Creative Commons Attribution 4.0 International CC-BY-4.0 https://creativecommons.org/licenses/by/4.0/legalcode 162508 Orphanet classification of rare neurological diseases 98006 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98006 Rare neurologic disease Category 603699 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=603699 Recessive KLHL7-related disorder Clinical group 603684 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=603684 KLHL7-related Bohring-Opitz-like and Crisponi/Cold-induced sweating-like overlap syndrome Malformation syndrome 603689 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=603689 KLHL7-related Bohring-Opitz-like syndrome Malformation syndrome 603694 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=603694 KLHL7-related Crisponi/cold-induced sweating-like syndrome Disease 90058 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90058 Spinal cord injury Particular clinical situation in a disease or syndrome 481665 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=481665 Pseudo-TORCH syndrome type 2 Disease 90056 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90056 Moderate and severe traumatic brain injury Particular clinical situation in a disease or syndrome 363746 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363746 Balint syndrome Clinical syndrome 398147 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=398147 Persistent idiopathic facial pain Disease 423662 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423662 Rare autonomic nervous system disorder Category 581271 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=581271 Cramp-fasciculation syndrome Disease 661 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=661 Congenital central hypoventilation syndrome Disease 441 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=441 Pure autonomic failure Disease 396 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=396 Chronic hiccup Disease 99803 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99803 Haddad syndrome Malformation syndrome 199282 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199282 Harlequin syndrome Disease 443084 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443084 Baroreflex failure Clinical syndrome 101998 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101998 Rare epilepsy Category 166463 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166463 Epilepsy syndrome Category 98259 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98259 Childhood-onset epilepsy syndrome Category 2382 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2382 Lennox-Gastaut syndrome Disease 1942 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1942 Epilepsy with myoclonic-atonic seizures Disease 309 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309 Familial partial epilepsy Clinical group 36387 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=36387 Genetic epilepsy with febrile seizure plus Disease 79137 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79137 Generalized epilepsy-paroxysmal dyskinesia syndrome Disease 98819 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98819 Familial temporal lobe epilepsy Disease 99701 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99701 Mesial temporal lobe epilepsy with hippocampal sclerosis Disease 163717 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163717 Familial mesial temporal lobe epilepsy Disease 725 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=725 Developmental and epileptic encephalopathy with spike-wave activation in sleep Disease 25968 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=25968 Self-limited childhood occipital epilepsy Disease 98815 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98815 Self-limited epilepsy with autonomic seizures Clinical subtype 98816 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98816 Childhood occipital visual epilepsy Clinical subtype 86911 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86911 Epilepsy with myoclonic absences Disease 98818 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98818 Landau-Kleffner syndrome Disease 139426 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139426 Perioral myoclonia with absences Disease 139431 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139431 Epilepsy with eyelid myoclonia Disease 163708 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163708 Cryptogenic late-onset epileptic spasms Disease 163721 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163721 Rolandic epilepsy-speech dyspraxia syndrome Disease 163727 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163727 Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome Disease 289266 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289266 Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation Disease 363567 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363567 Acute encephalopathy with inflammation-mediated status epilepticus Clinical group 163703 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163703 Febrile infection-related epilepsy syndrome Disease 363549 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363549 Acute encephalopathy with biphasic seizures and late reduced diffusion Disease 363558 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363558 New-onset refractory status epilepticus Disease 1945 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1945 Self-limited epilepsy with centrotemporal spikes Disease 64280 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=64280 Childhood absence epilepsy Disease 86908 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86908 Hemiconvulsion-hemiplegia-epilepsy syndrome Disease 98260 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98260 Adolescent-onset epilepsy syndrome Category 309 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309 Familial partial epilepsy Clinical group 36387 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=36387 Genetic epilepsy with febrile seizure plus Disease 79137 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79137 Generalized epilepsy-paroxysmal dyskinesia syndrome Disease 98819 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98819 Familial temporal lobe epilepsy Disease 99701 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99701 Mesial temporal lobe epilepsy with hippocampal sclerosis Disease 163717 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163717 Familial mesial temporal lobe epilepsy Disease 1544 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1544 Benign focal seizures of adolescence Disease 86814 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86814 Familial adult myoclonic epilepsy Disease 363558 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363558 New-onset refractory status epilepticus Disease 693802 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=693802 Neonatal-infantile onset epilepsy syndrome Clinical group 166308 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166308 Benign infantile focal epilepsy with midline spikes and waves during sleep Disease 163681 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163681 CNTNAP2-related developmental and epileptic encephalopathy Disease 599373 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=599373 STXBP1-related encephalopathy Disease 697160 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=697160 Infantile epileptic spasms syndrome Disease 505652 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=505652 CDKL5-deficiency disorder Disease 1943 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1943 Early-onset progressive encephalopathy with migrant continuous myoclonus Disease 1934 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1934 Early infantile developmental and epileptic encephalopathy Clinical syndrome 1949 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1949 Self-limited neonatal epilepsy Disease 209370 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209370 MECP2-related severe neonatal encephalopathy Disease 293181 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293181 Epilepsy of infancy with migrating focal seizures Disease 33069 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33069 Dravet syndrome Disease 36387 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=36387 Genetic epilepsy with febrile seizure plus Disease 86909 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86909 Myoclonic epilepsy of infancy Disease 544254 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=544254 SYNGAP1-related developmental and epileptic encephalopathy Disease 71277 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71277 Classic glucose transporter type 1 deficiency syndrome Disease 3205 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3205 Sturge-Weber syndrome Malformation syndrome 3006 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3006 Pyridoxine-dependent-developmental and epileptic encephalopathy Disease 79096 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79096 Pyridoxamine-5-phosphate deficiency-developmental and epileptic encephalopathy Disease 86906 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86906 Gelastic seizures with hypothalamic hamartoma Disease 439218 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=439218 KCNQ2-related developmental and epileptic encephalopathy Disease 306 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306 Self-limited infantile epilepsy Disease 140927 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140927 Self-limited neonatal-infantile epilepsy Disease 699645 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699645 Variable age-onset epilepsy syndrome Clinical group 86913 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86913 Myoclonic epilepsy in non-progressive encephalopathies Malformation syndrome 698005 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=698005 Epilepsy with generalized tonic-clonic seizures alone Disease 98784 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98784 Sleep-related hypermotor epilepsy Disease 1941 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1941 Juvenile absence epilepsy Disease 307 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=307 Juvenile myoclonic epilepsy Disease 98820 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98820 Familial focal epilepsy with variable foci Disease 101046 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101046 Epilepsy with auditory features Disease 310 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=310 Reflex epilepsy Clinical group 166409 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166409 Photosensitive occipital lobe epilepsy Disease 166412 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166412 Hot water reflex epilepsy Disease 166415 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166415 Audiogenic epilepsy Disease 166418 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166418 Eating reflex epilepsy Disease 166421 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166421 Orgasm-induced epilepsy Disease 166424 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166424 Thinking epilepsy Disease 166427 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166427 Startle epilepsy Disease 166430 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166430 Micturition-induced epilepsy Disease 166433 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166433 Epilepsy with reading-induced seizures Disease 98261 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98261 Progressive myoclonic epilepsy Clinical group 551 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=551 MERRF Disease 501 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=501 Lafora disease Disease 308 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308 Progressive myoclonic epilepsy type 1 Disease 228346 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228346 CLN3 disease Disease 699780 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699780 Juvenile CLN3 disease Clinical subtype 699796 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699796 Protracted juvenile CLN3 disease Clinical subtype 228343 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228343 CLN4 disease Disease 228360 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228360 CLN5 disease Disease 699802 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699802 Late infantile CLN5 disease Clinical subtype 699807 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699807 Juvenile CLN5 disease Clinical subtype 699812 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699812 Adult CLN5 disease Clinical subtype 85110 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85110 Familial encephalopathy with neuroserpin inclusion bodies Disease 530303 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=530303 Progressive dementia with neuroserpin inclusion bodies Clinical subtype 530298 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=530298 Progressive myoclonic epilepsy with neuroserpin inclusion bodies Clinical subtype 228329 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228329 CLN1 disease Disease 699718 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699718 Infantile CLN1 disease Clinical subtype 699739 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699739 Juvenile CLN1 disease Clinical subtype 699745 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699745 Adult CLN1 disease Clinical subtype 699734 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699734 Late infantile CLN1 disease Clinical subtype 228349 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228349 CLN2 disease Disease 699751 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699751 Infantile CLN2 disease Clinical subtype 699769 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699769 Juvenile CLN2 disease Clinical subtype 699761 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699761 Late infantile CLN2 disease Clinical subtype 280620 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280620 Progressive myoclonic epilepsy type 6 Disease 324290 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324290 PRDM8-related progressive myoclonus epilepsy Disease 402082 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=402082 Progressive myoclonic epilepsy type 5 Disease 424027 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=424027 Progressive myoclonic epilepsy type 8 Disease 435438 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=435438 Progressive myoclonic epilepsy type 7 Disease 228363 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228363 CLN6 disease Disease 700477 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700477 Adult CLN6 disease Clinical subtype 700467 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700467 Late infantile CLN6 disease Clinical subtype 700472 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700472 Juvenile CLN6 disease Clinical subtype 228366 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228366 CLN7 disease Disease 228354 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228354 CLN8 disease Disease 700484 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700484 Late infantile CLN8 disease Clinical subtype 1947 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1947 Northern epilepsy Clinical subtype 228337 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228337 CLN10 disease Disease 700487 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700487 Congenital CLN10 disease Clinical subtype 700492 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700492 Late infantile CLN10 disease Clinical subtype 700497 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700497 Juvenile CLN10 disease Clinical subtype 352709 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352709 CLN13 disease Disease 263516 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263516 Progressive myoclonic epilepsy type 3 Disease 457265 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457265 Progressive myoclonic epilepsy type 9 Disease 314629 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314629 CLN11 disease Disease 2590 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2590 Spinal muscular atrophy-progressive myoclonic epilepsy syndrome Disease 166466 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166466 Neurocutaneous syndrome with epilepsy Category 100 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100 Ataxia-telangiectasia Disease 636 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=636 Neurofibromatosis type 1 Disease 97685 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97685 17q11 microdeletion syndrome Clinical subtype 363700 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363700 Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion Etiological subtype 464 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=464 Incontinentia pigmenti Malformation syndrome 744 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=744 Proteus syndrome Malformation syndrome 3205 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3205 Sturge-Weber syndrome Malformation syndrome 805 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=805 Tuberous sclerosis complex Disease 33445 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33445 Neuroectodermal melanolysosomal disease Malformation syndrome 166469 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166469 Chromosomal anomaly with epilepsy as a major feature Category 72 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=72 Angelman syndrome Malformation syndrome 98794 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98794 Angelman syndrome due to maternal 15q11q13 deletion Etiological subtype 98795 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98795 Angelman syndrome due to paternal uniparental disomy of chromosome 15 Etiological subtype 411511 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=411511 Angelman syndrome due to a point mutation Etiological subtype 411515 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=411515 Angelman syndrome due to imprinting defect in 15q11-q13 Etiological subtype 908 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=908 Fragile X syndrome Malformation syndrome 280 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280 Wolf-Hirschhorn syndrome Malformation syndrome 884 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=884 Pallister-Killian syndrome Malformation syndrome 1444 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1444 Ring chromosome 20 syndrome Malformation syndrome 3306 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3306 Inverted duplicated chromosome 15 syndrome Malformation syndrome 1440 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1440 Ring chromosome 14 syndrome Malformation syndrome 1606 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1606 1p36 deletion syndrome Malformation syndrome 531 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=531 Miller-Dieker syndrome Malformation syndrome 96147 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96147 Kleefstra syndrome due to 9q34 microdeletion Etiological subtype 199318 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199318 15q13.3 microdeletion syndrome Malformation syndrome 261537 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261537 Mowat-Wilson syndrome due to monosomy 2q22 Etiological subtype 217377 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217377 Microduplication Xp11.22p11.23 syndrome Malformation syndrome 495818 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=495818 9q33.3q34.11 microdeletion syndrome Malformation syndrome 228384 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228384 5q14.3 microdeletion syndrome Etiological subtype 228402 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228402 2q23.1 microdeletion syndrome Malformation syndrome 166472 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166472 Monogenic disease with epilepsy Category 589515 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589515 PUM1-associated developmental disability-ataxia-seizure syndrome Disease 428 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=428 Autosomal dominant hypocalcemia Clinical subtype 3173 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3173 Infantile spasms-broad thumbs syndrome Disease 1951 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1951 Epilepsy-telangiectasia syndrome Disease 99807 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99807 PEHO-like syndrome Disease 99989 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99989 Intermediate DEND syndrome Disease 778 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=778 Rett syndrome Disease 1947 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1947 Northern epilepsy Clinical subtype 2076 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2076 X-linked intellectual disability-epilepsy syndrome Clinical group 93952 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93952 X-linked intellectual disability, Hedera type Disease 163985 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163985 Hyperekplexia-epilepsy syndrome Disease 3095 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3095 Atypical Rett syndrome Disease 85279 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85279 KDM5C-related syndromic X-linked intellectual disability Malformation syndrome 85294 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85294 X-linked epilepsy-learning disabilities-behavior disorders syndrome Disease 182079 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=182079 ARX-related epileptic encephalopathy Clinical group 1934 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1934 Early infantile developmental and epileptic encephalopathy Clinical syndrome 3175 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3175 X-linked spasticity-intellectual disability-epilepsy syndrome Disease 94083 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94083 Partington syndrome Malformation syndrome 364063 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=364063 Infantile epileptic-dyskinetic encephalopathy Disease 423655 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423655 ARX-related encephalopathy-brain malformation spectrum Clinical group 2508 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2508 Corpus callosum agenesis-abnormal genitalia syndrome Malformation syndrome 452 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=452 X-linked lissencephaly with abnormal genitalia Malformation syndrome 182083 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=182083 Channelopathy with epilepsy Category 309 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309 Familial partial epilepsy Clinical group 36387 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=36387 Genetic epilepsy with febrile seizure plus Disease 79137 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79137 Generalized epilepsy-paroxysmal dyskinesia syndrome Disease 98819 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98819 Familial temporal lobe epilepsy Disease 99701 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99701 Mesial temporal lobe epilepsy with hippocampal sclerosis Disease 163717 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163717 Familial mesial temporal lobe epilepsy Disease 33069 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33069 Dravet syndrome Disease 199343 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199343 EAST syndrome Disease 293181 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293181 Epilepsy of infancy with migrating focal seizures Disease 1934 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1934 Early infantile developmental and epileptic encephalopathy Clinical syndrome 199348 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199348 Thiamine-responsive encephalopathy Disease 209370 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209370 MECP2-related severe neonatal encephalopathy Disease 352582 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352582 Familial infantile myoclonic epilepsy Disease 352587 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352587 Focal epilepsy-intellectual disability-cerebro-cerebellar malformation Disease 352596 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352596 Progressive myoclonic epilepsy with dystonia Disease 127 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=127 Borjeson-Forssman-Lehmann syndrome Malformation syndrome 391316 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391316 Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression Disease 404481 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404481 Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome Clinical group 284282 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284282 Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency Disease 404493 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404493 Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency Disease 404499 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404499 Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency Disease 411986 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=411986 Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome Malformation syndrome 435845 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=435845 Lethal neonatal spasticity-epileptic encephalopathy syndrome Malformation syndrome 442835 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=442835 Non-specific early-onset epileptic encephalopathy Disease 544503 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=544503 RNF13-related severe early-onset epileptic encephalopathy Disease 565858 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=565858 Craniosynostosis-microretrognathia-severe intellectual disability syndrome Malformation syndrome 561854 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=561854 FOXG1 syndrome Disease 598164 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=598164 FOXG1 syndrome due to intragenic alteration Clinical subtype 261144 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261144 FOXG1 syndrome due to 14q12 microdeletion Clinical subtype 564178 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=564178 Primary hypomagnesemia-refractory seizures-intellectual disability syndrome Disease 464282 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=464282 Spastic paraplegia-severe developmental delay-epilepsy syndrome Disease 496641 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=496641 Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome Malformation syndrome 500545 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=500545 Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract Disease 500533 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=500533 Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome Disease 505237 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=505237 Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome Malformation syndrome 37612 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=37612 Episodic ataxia type 1 Disease 488613 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488613 Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome Malformation syndrome 2836 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2836 PEHO syndrome Disease 163696 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163696 Action myoclonus-renal failure syndrome Disease 2152 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2152 Mowat-Wilson syndrome Malformation syndrome 261537 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261537 Mowat-Wilson syndrome due to monosomy 2q22 Etiological subtype 261552 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261552 Mowat-Wilson syndrome due to a ZEB2 point mutation Etiological subtype 2896 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2896 Pitt-Hopkins syndrome Malformation syndrome 397933 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397933 Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome Disease 101685 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101685 Rare non-syndromic intellectual disability Disease 777 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=777 X-linked non-syndromic intellectual disability Etiological subtype 88616 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88616 Autosomal recessive non-syndromic intellectual disability Etiological subtype 178469 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178469 Autosomal dominant non-syndromic intellectual disability Etiological subtype 592564 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=592564 GNAO1-related developmental delay-seizures-movement disorder spectrum Disease 684232 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=684232 Intellectual disability-epilepsy-dental anomalies-facial dysmorphism syndrome Malformation syndrome 684240 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=684240 Neurodevelopmental disorder-spasticity-movement disorder-epileptic syndrome Malformation syndrome 662367 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=662367 NESCAV syndrome Disease 684216 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=684216 Intellectual disability-facial dysmorphism-joint hypermobility-hearing loss syndrome Malformation syndrome 689397 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=689397 Poirier-Bienvenu neurodevelopmental syndrome Malformation syndrome 694922 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=694922 Childhood-onset stress-induced neurodegenerative ataxia-seizure syndrome Disease 166475 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166475 Idiopathic or cryptogenic familial epilepsy syndrome with identified loci/genes Category 309 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309 Familial partial epilepsy Clinical group 36387 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=36387 Genetic epilepsy with febrile seizure plus Disease 79137 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79137 Generalized epilepsy-paroxysmal dyskinesia syndrome Disease 98819 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98819 Familial temporal lobe epilepsy Disease 99701 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99701 Mesial temporal lobe epilepsy with hippocampal sclerosis Disease 163717 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163717 Familial mesial temporal lobe epilepsy Disease 306 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306 Self-limited infantile epilepsy Disease 140927 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140927 Self-limited neonatal-infantile epilepsy Disease 166478 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166478 Cerebral malformation with epilepsy Category 1647 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1647 Oculocerebrocutaneous syndrome Malformation syndrome 50 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=50 Aicardi syndrome Disease 2162 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2162 Holoprosencephaly Malformation syndrome 93924 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93924 Lobar holoprosencephaly Clinical subtype 93925 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93925 Alobar holoprosencephaly Clinical subtype 93926 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93926 Midline interhemispheric variant of holoprosencephaly Clinical subtype 220386 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=220386 Semilobar holoprosencephaly Clinical subtype 280195 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280195 Septopreoptic holoprosencephaly Clinical subtype 799 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=799 Schizencephaly Disease 481986 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=481986 Familial schizencephaly Etiological subtype 485275 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=485275 Acquired schizencephaly Etiological subtype 2940 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2940 Porencephaly Disease 99810 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99810 Familial porencephaly Etiological subtype 314697 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314697 Acquired porencephaly Etiological subtype 48471 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=48471 Lissencephaly Category 1083 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1083 Microlissencephaly Morphological anomaly 89844 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=89844 Lissencephaly syndrome, Norman-Roberts type Clinical subtype 51577 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=51577 Cobblestone lissencephaly Clinical group 352682 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352682 Cobblestone lissencephaly without muscular or ocular involvement Disease 352687 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352687 Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies Clinical group 272 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=272 Congenital muscular dystrophy, Fukuyama type Malformation syndrome 899 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=899 Walker-Warburg syndrome Disease 588 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=588 Muscle-eye-brain disease Malformation syndrome 370997 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370997 Muscle-eye-brain disease with bilateral multicystic leucodystrophy Disease 86823 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86823 Lissencephaly with cerebellar hypoplasia Clinical group 100011 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100011 Lissencephaly with cerebellar hypoplasia type A Malformation syndrome 100012 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100012 Lissencephaly with cerebellar hypoplasia type B Malformation syndrome 100013 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100013 Lissencephaly with cerebellar hypoplasia type C Malformation syndrome 100014 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100014 Lissencephaly with cerebellar hypoplasia type D Malformation syndrome 100015 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100015 Lissencephaly with cerebellar hypoplasia type E Malformation syndrome 100016 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100016 Lissencephaly with cerebellar hypoplasia type F Malformation syndrome 102009 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=102009 Classic lissencephaly Clinical group 572013 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=572013 Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome Malformation syndrome 2148 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2148 Lissencephaly type 1 due to doublecortin gene mutation Disease 531 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=531 Miller-Dieker syndrome Malformation syndrome 1084 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1084 Isolated lissencephaly type 1 without known genetic defects Disease 95232 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95232 Lissencephaly due to LIS1 mutation Disease 102010 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=102010 Other syndrome with lissencephaly as a major feature Category 1528 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1528 Craniotelencephalic dysplasia Malformation syndrome 2510 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2510 Micro syndrome Malformation syndrome 2995 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2995 Baraitser-Winter cerebrofrontofacial syndrome Malformation syndrome 452 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=452 X-linked lissencephaly with abnormal genitalia Malformation syndrome 102011 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=102011 Lissencephaly type 3 Clinical group 2671 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2671 Neu-Laxova syndrome Malformation syndrome 583602 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=583602 Neu-Laxova syndrome due to phosphoserine aminotransferase deficiency Etiological subtype 583607 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=583607 Neu-Laxova syndrome due to 3-phosphoglycerate dehydrogenase deficiency Etiological subtype 583612 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=583612 Neu-Laxova syndrome due to 3-phosphoserine phosphatase deficiency Etiological subtype 86821 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86821 Lissencephaly type 3-familial fetal akinesia sequence syndrome Malformation syndrome 86822 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86822 Lissencephaly type 3-metacarpal bone dysplasia syndrome Malformation syndrome 171680 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171680 Lissencephaly due to TUBA1A mutation Malformation syndrome 50810 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=50810 Microlissencephaly-micromelia syndrome Malformation syndrome 86906 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86906 Gelastic seizures with hypothalamic hamartoma Disease 99802 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99802 Hemimegalencephaly Malformation syndrome 163209 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163209 Non-syndromic cerebral malformation due to abnormal neuronal migration Category 2149 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2149 Nodular neuronal heterotopia Morphological anomaly 98892 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98892 Periventricular nodular heterotopia Clinical subtype 101029 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101029 Sub-cortical nodular heterotopia Clinical subtype 101030 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101030 Subependymal nodular heterotopia Clinical subtype 35981 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35981 Polymicrogyria Clinical group 268940 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268940 Bilateral polymicrogyria Morphological anomaly 98889 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98889 Bilateral perisylvian polymicrogyria Clinical subtype 101070 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101070 Bilateral frontoparietal polymicrogyria Clinical subtype 208441 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=208441 Bilateral parasagittal parieto-occipital polymicrogyria Clinical subtype 208444 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=208444 Bilateral frontal polymicrogyria Clinical subtype 208447 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=208447 Bilateral generalized polymicrogyria Clinical subtype 268943 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268943 Unilateral polymicrogyria Morphological anomaly 101071 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101071 Unilateral hemispheric polymicrogyria Clinical subtype 268947 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268947 Unilateral focal polymicrogyria Clinical subtype 99796 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99796 Subcortical band heterotopia Morphological anomaly 268950 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268950 Cerebral cortical dysplasia Clinical group 65683 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65683 Isolated focal cortical dysplasia Disease 268961 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268961 Isolated focal cortical dysplasia type I Clinical subtype 268973 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268973 Isolated focal cortical dysplasia type Ia Histopathological subtype 268980 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268980 Isolated focal cortical dysplasia type Ib Histopathological subtype 268987 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268987 Isolated focal cortical dysplasia type Ic Histopathological subtype 268994 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268994 Isolated focal cortical dysplasia type II Clinical subtype 269001 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=269001 Isolated focal cortical dysplasia type IIa Histopathological subtype 269008 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=269008 Isolated focal cortical dysplasia type IIb Histopathological subtype 280640 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280640 Occipital pachygyria and polymicrogyria Malformation syndrome 300570 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300570 Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation Disease 329329 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329329 Autosomal recessive frontotemporal pachygyria Malformation syndrome 2798 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2798 Pachygyria-intellectual disability-epilepsy syndrome Malformation syndrome 250972 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=250972 Polymicrogyria with optic nerve hypoplasia Malformation syndrome 306558 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306558 Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome Disease 352587 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352587 Focal epilepsy-intellectual disability-cerebro-cerebellar malformation Disease 401959 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401959 Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome Malformation syndrome 404437 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404437 Diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndrome Malformation syndrome 137831 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137831 X-linked intellectual disability-cerebellar hypoplasia syndrome Disease 85278 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85278 Christianson syndrome Malformation syndrome 98523 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98523 Non-syndromic pontocerebellar hypoplasia Clinical group 2524 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2524 Pontocerebellar hypoplasia type 2 Malformation syndrome 2254 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2254 Pontocerebellar hypoplasia type 1 Malformation syndrome 97249 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97249 Pontocerebellar hypoplasia type 3 Malformation syndrome 166063 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166063 Pontocerebellar hypoplasia type 4 Malformation syndrome 166073 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166073 Pontocerebellar hypoplasia type 6 Malformation syndrome 284339 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284339 Pontocerebellar hypoplasia type 7 Malformation syndrome 324569 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324569 Pontocerebellar hypoplasia type 8 Malformation syndrome 369920 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369920 Pontocerebellar hypoplasia type 9 Malformation syndrome 411493 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=411493 Pontocerebellar hypoplasia type 10 Malformation syndrome 611256 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=611256 Pontocerebellar hypoplasia type 12 Malformation syndrome 611247 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=611247 Pontocerebellar hypoplasia type 11 Malformation syndrome 613267 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=613267 Pontocerebellar hypoplasia type 13 Malformation syndrome 613274 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=613274 Pontocerebellar hypoplasia type 14 Malformation syndrome 166481 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166481 Metabolic diseases with epilepsy Category 79134 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79134 DEND syndrome Disease 225681 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=225681 Lysosomal disease with epilepsy Category 93 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93 Aspartylglucosaminuria Disease 578 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=578 Mucolipidosis type IV Disease 834 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=834 Free sialic acid storage disease Disease 309324 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309324 Free sialic acid storage disease, infantile form Clinical subtype 309331 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309331 Intermediate severe Salla disease Clinical subtype 309334 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309334 Salla disease Clinical subtype 216 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216 Neuronal ceroid lipofuscinosis Clinical group 228329 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228329 CLN1 disease Disease 699718 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699718 Infantile CLN1 disease Clinical subtype 699739 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699739 Juvenile CLN1 disease Clinical subtype 699745 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699745 Adult CLN1 disease Clinical subtype 699734 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699734 Late infantile CLN1 disease Clinical subtype 228349 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228349 CLN2 disease Disease 699751 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699751 Infantile CLN2 disease Clinical subtype 699769 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699769 Juvenile CLN2 disease Clinical subtype 699761 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699761 Late infantile CLN2 disease Clinical subtype 228346 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228346 CLN3 disease Disease 699780 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699780 Juvenile CLN3 disease Clinical subtype 699796 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699796 Protracted juvenile CLN3 disease Clinical subtype 228343 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228343 CLN4 disease Disease 314632 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314632 CLN12 disease Disease 314629 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314629 CLN11 disease Disease 699708 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699708 CLN14 disease Disease 228360 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228360 CLN5 disease Disease 699802 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699802 Late infantile CLN5 disease Clinical subtype 699807 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699807 Juvenile CLN5 disease Clinical subtype 699812 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699812 Adult CLN5 disease Clinical subtype 228363 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228363 CLN6 disease Disease 700477 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700477 Adult CLN6 disease Clinical subtype 700467 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700467 Late infantile CLN6 disease Clinical subtype 700472 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700472 Juvenile CLN6 disease Clinical subtype 228366 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228366 CLN7 disease Disease 228354 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228354 CLN8 disease Disease 700484 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700484 Late infantile CLN8 disease Clinical subtype 1947 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1947 Northern epilepsy Clinical subtype 352709 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352709 CLN13 disease Disease 228337 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228337 CLN10 disease Disease 700487 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700487 Congenital CLN10 disease Clinical subtype 700492 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700492 Late infantile CLN10 disease Clinical subtype 700497 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700497 Juvenile CLN10 disease Clinical subtype 581 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=581 Mucopolysaccharidosis type 3 Disease 79269 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79269 Sanfilippo syndrome type A Etiological subtype 79270 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79270 Sanfilippo syndrome type B Etiological subtype 79271 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79271 Sanfilippo syndrome type C Etiological subtype 79272 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79272 Sanfilippo syndrome type D Etiological subtype 3137 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3137 Alpha-N-acetylgalactosaminidase deficiency Disease 79279 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79279 Alpha-N-acetylgalactosaminidase deficiency type 1 Clinical subtype 79280 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79280 Alpha-N-acetylgalactosaminidase deficiency type 2 Clinical subtype 79281 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79281 Alpha-N-acetylgalactosaminidase deficiency type 3 Clinical subtype 371442 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=371442 Sphingolipidosis with epilepsy Category 618891 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=618891 Chronic neurovisceral acid sphingomyelinase deficiency Disease 585 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=585 Multiple sulfatase deficiency Disease 333 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=333 Farber disease Disease 487 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=487 Krabbe disease Disease 206443 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206443 Late-infantile/juvenile Krabbe disease Clinical subtype 206448 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206448 Adult Krabbe disease Clinical subtype 206436 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206436 Infantile Krabbe disease Clinical subtype 324 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324 Fabry disease Disease 512 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=512 Metachromatic leukodystrophy Disease 309256 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309256 Metachromatic leukodystrophy, late infantile form Clinical subtype 309263 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309263 Metachromatic leukodystrophy, juvenile form Clinical subtype 309271 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309271 Metachromatic leukodystrophy, adult form Clinical subtype 646 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=646 Niemann-Pick disease type C Disease 216972 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216972 Niemann-Pick disease type C, severe perinatal form Clinical subtype 216975 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216975 Niemann-Pick disease type C, severe early infantile neurologic onset Clinical subtype 216978 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216978 Niemann-Pick disease type C, late infantile neurologic onset Clinical subtype 216981 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216981 Niemann-Pick disease type C, juvenile neurologic onset Clinical subtype 216986 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216986 Niemann-Pick disease type C, adult neurologic onset Clinical subtype 77260 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77260 Gaucher disease type 2 Clinical subtype 77261 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77261 Gaucher disease type 3 Clinical subtype 77292 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77292 Infantile neurovisceral acid sphingomyelinase deficiency Disease 139406 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139406 Encephalopathy due to prosaposin deficiency Disease 309144 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309144 Gangliosidosis Category 354 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=354 GM1 gangliosidosis Disease 79255 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79255 GM1 gangliosidosis type 1 Clinical subtype 79256 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79256 GM1 gangliosidosis type 2 Clinical subtype 79257 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79257 GM1 gangliosidosis type 3 Clinical subtype 309152 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309152 GM2 gangliosidosis Clinical group 796 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=796 Sandhoff disease Disease 309155 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309155 Sandhoff disease, infantile form Clinical subtype 309162 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309162 Sandhoff disease, juvenile form Clinical subtype 309169 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309169 Sandhoff disease, adult form Clinical subtype 845 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=845 Tay-Sachs disease Disease 309178 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309178 Tay-Sachs disease, infantile form Clinical subtype 309185 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309185 Tay-Sachs disease, juvenile form Clinical subtype 309192 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309192 Tay-Sachs disease, adult form Clinical subtype 309246 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309246 GM2 gangliosidosis, AB variant Disease 225686 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=225686 Peroxisomal disease with epilepsy Category 912 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=912 Zellweger syndrome Disease 44 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=44 Neonatal adrenoleukodystrophy Disease 2971 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2971 Peroxisomal acyl-CoA oxidase deficiency Disease 43 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=43 X-linked adrenoleukodystrophy Disease 139396 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139396 X-linked cerebral adrenoleukodystrophy Clinical subtype 139399 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139399 Adrenomyeloneuropathy Clinical subtype 177 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=177 Rhizomelic chondrodysplasia punctata Disease 309803 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309803 Rhizomelic chondrodysplasia punctata type 3 Etiological subtype 309789 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309789 Rhizomelic chondrodysplasia punctata type 1 Etiological subtype 309796 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309796 Rhizomelic chondrodysplasia punctata type 2 Etiological subtype 468717 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=468717 Rhizomelic chondrodysplasia punctata type 5 Etiological subtype 772 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=772 Infantile Refsum disease Disease 438178 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=438178 Fatty acyl-CoA reductase 1 deficiency Disease 225689 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=225689 Amino acid or protein metabolism disease with epilepsy Category 141 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141 Canavan disease Disease 314911 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314911 Severe Canavan disease Clinical subtype 314918 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314918 Mild Canavan disease Clinical subtype 394 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=394 Homocystinuria due to cystathionine beta-synthase deficiency Disease 833 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=833 Encephalopathy due to sulfite oxidase deficiency Disease 99731 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99731 Isolated sulfite oxidase deficiency Clinical subtype 99732 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99732 Sulfite oxidase deficiency due to molybdenum cofactor deficiency Clinical subtype 308386 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308386 Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A Etiological subtype 308393 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308393 Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B Etiological subtype 308400 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308400 Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C Etiological subtype 716 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=716 Phenylketonuria Disease 293284 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293284 Tetrahydrobiopterin-responsive phenylketonuria Clinical subtype 708895 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=708895 Tetrahydrobiopterin-unresponsive phenylketonuria Clinical subtype 19 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=19 2-hydroxyglutaric aciduria Clinical group 79314 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79314 L-2-hydroxyglutaric aciduria Disease 79315 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79315 D-2-hydroxyglutaric aciduria Disease 356978 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=356978 D,L-2-hydroxyglutaric aciduria Disease 407 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=407 Glycine encephalopathy Disease 289857 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289857 Neonatal glycine encephalopathy Clinical subtype 289860 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289860 Infantile glycine encephalopathy Clinical subtype 289863 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289863 Atypical glycine encephalopathy Clinical subtype 419 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=419 Hyperprolinemia type 1 Disease 79101 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79101 Hyperprolinemia type 2 Disease 79157 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79157 2-methylbutyryl-CoA dehydrogenase deficiency Disease 308410 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308410 Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency Disease 309147 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309147 Hyper-beta-alaninemia Disease 557064 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=557064 Neonatal epileptic encephalopathy due to glutaminase deficiency Disease 505216 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=505216 3-methylglutaconic aciduria type 9 Disease 225692 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=225692 Metal transport or utilization disorder with epilepsy Category 905 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=905 Wilson disease Disease 565 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=565 Menkes disease Disease 225696 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=225696 Energy metabolism disorder with epilepsy Category 868 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=868 Triose phosphate-isomerase deficiency Disease 35706 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35706 Glutaric acidemia type 3 Disease 71212 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71212 Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency Disease 79172 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79172 Creatine deficiency syndrome Clinical group 382 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=382 Guanidinoacetate methyltransferase deficiency Disease 35704 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35704 L-Arginine:glycine amidinotransferase deficiency Disease 52503 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52503 X-linked creatine transporter deficiency Disease 225700 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=225700 Mitochondrial disease with epilepsy Category 353217 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=353217 Epileptic encephalopathy with global cerebral demyelination Disease 480 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480 Kearns-Sayre syndrome Disease 550 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=550 MELAS Disease 551 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=551 MERRF Disease 644 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=644 NARP syndrome Disease 765 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=765 Pyruvate dehydrogenase deficiency Disease 2394 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2394 Pyruvate dehydrogenase E3 deficiency Clinical subtype 79243 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79243 Pyruvate dehydrogenase E1-alpha deficiency Clinical subtype 79244 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79244 Pyruvate dehydrogenase E2 deficiency Clinical subtype 79246 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79246 Pyruvate dehydrogenase phosphatase deficiency Clinical subtype 255138 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=255138 Pyruvate dehydrogenase E1-beta deficiency Clinical subtype 255182 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=255182 Pyruvate dehydrogenase E3-binding protein deficiency Clinical subtype 31 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=31 Oxoglutaric aciduria Disease 726 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=726 Alpers-Huttenlocher syndrome Disease 24 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=24 Fumaric aciduria Disease 298 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=298 Mitochondrial neurogastrointestinal encephalomyopathy Disease 35656 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35656 Coenzyme Q10 deficiency Clinical group 139485 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139485 Autosomal recessive ataxia due to ubiquinone deficiency Disease 254898 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254898 Deafness-encephaloneuropathy-obesity-valvulopathy syndrome Disease 280406 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280406 Familial steroid-resistant nephrotic syndrome with sensorineural deafness Disease 319678 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319678 Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome Disease 457185 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457185 Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome Disease 658778 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=658778 COQ7-related distal hereditary motor neuropathy Disease 70595 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=70595 Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome Disease 85282 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85282 MEHMO syndrome Malformation syndrome 70472 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=70472 Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type Disease 447795 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447795 Lipoyl transferase 2 deficiency Biological anomaly 506 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=506 Leigh syndrome Disease 401859 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401859 Lipoic acid synthetase deficiency Disease 2609 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2609 Isolated complex I deficiency Disease 225707 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=225707 Metabolic neurotransmission anomaly with epilepsy Category 675775 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=675775 Severe congenital myelofibrosis-pancytopenia-intellectual disability-neurologic and ophthalmic abnormalities syndrome Disease 22 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=22 Succinic semialdehyde dehydrogenase deficiency Disease 3006 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3006 Pyridoxine-dependent-developmental and epileptic encephalopathy Disease 2066 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2066 Gamma-aminobutyric acid transaminase deficiency Disease 65287 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65287 Beta-ureidopropionase deficiency Disease 79096 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79096 Pyridoxamine-5-phosphate deficiency-developmental and epileptic encephalopathy Disease 79219 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79219 Metabolic disease involving other neurotransmitter deficiency Category 3197 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3197 Hereditary hyperekplexia Disease 79097 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79097 Folinic acid-responsive seizures Disease 132 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=132 Hereditary butyrylcholinesterase deficiency Disease 225710 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=225710 Sterol metabolism disorder with epilepsy Category 909 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=909 Cerebrotendinous xanthomatosis Disease 225713 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=225713 Other metabolic disease with epilepsy Category 2388 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2388 Choreoacanthocytosis Disease 59306 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=59306 McLeod neuroacanthocytosis syndrome Disease 71277 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71277 Classic glucose transporter type 1 deficiency syndrome Disease 319651 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319651 Constitutional megaloblastic anemia with severe neurologic disease Disease 46 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=46 Adenylosuccinate lyase deficiency Disease 480864 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480864 Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome Disease 457375 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457375 ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement Disease 395 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=395 Homocystinuria due to methylene tetrahydrofolate reductase deficiency Disease 217382 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217382 Neurodegenerative syndrome due to cerebral folate transport deficiency Disease 597874 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=597874 MTHFS-related developmental delay-microcephaly-short stature-epilepsy syndrome Disease 371071 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=371071 Congenital disorder of glycosylation with epilepsy as a major feature Category 79322 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79322 DPM1-CDG Disease 79323 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79323 MPDU1-CDG Disease 79326 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79326 ALG2-CDG Disease 79327 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79327 ALG1-CDG Disease 79328 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79328 ALG9-CDG Disease 79330 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79330 MOGS-CDG Disease 79333 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79333 COG7-CDG Disease 83639 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83639 Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency Disease 86309 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86309 DPAGT1-CDG Disease 95428 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95428 COG8-CDG Disease 99843 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99843 Leukocyte adhesion deficiency type II Clinical subtype 238459 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238459 SLC35A1-CDG Disease 244310 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=244310 RFT1-CDG Disease 263501 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263501 COG4-CDG Disease 280071 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280071 ALG11-CDG Disease 280633 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280633 Multiple congenital anomalies-hypotonia-seizures syndrome Malformation syndrome 300496 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300496 Multiple congenital anomalies-hypotonia-seizures syndrome type 2 Malformation syndrome 324422 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324422 ALG13-CDG Disease 329178 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329178 Congenital muscular dystrophy with intellectual disability and severe epilepsy Disease 356961 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=356961 SLC35A2-CDG Disease 357058 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=357058 Autosomal recessive cutis laxa type 2A Disease 2834 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2834 Wrinkly skin syndrome Clinical subtype 357074 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=357074 Autosomal recessive cutis laxa type 2, classic type Clinical subtype 370921 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370921 STT3A-CDG Disease 370924 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370924 STT3B-CDG Disease 370927 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370927 SSR4-CDG Disease 370933 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370933 GM3 synthase deficiency Disease 370943 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370943 Autism spectrum disorder-epilepsy-arthrogryposis syndrome Disease 3474 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3474 CHIME syndrome Malformation syndrome 272 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=272 Congenital muscular dystrophy, Fukuyama type Malformation syndrome 899 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=899 Walker-Warburg syndrome Disease 588 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=588 Muscle-eye-brain disease Malformation syndrome 79318 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79318 PMM2-CDG Disease 79320 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79320 ALG6-CDG Disease 79321 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79321 ALG3-CDG Disease 488635 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488635 Early-onset epilepsy-intellectual disability-brain anomalies syndrome Disease 466926 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466926 Seizures-scoliosis-macrocephaly syndrome Disease 166484 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166484 Inflammatory and autoimmune disease with epilepsy Category 117 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=117 Behçet disease Disease 797 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=797 Sarcoidosis Disease 900 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=900 Granulomatosis with polyangiitis Disease 1214 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1214 Progressive hemifacial atrophy Disease 1459 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1459 Celiac disease-epilepsy-cerebral calcification syndrome Disease 1929 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1929 Rasmussen subacute encephalitis Disease 83467 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83467 Morvan syndrome Disease 93552 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93552 Pediatric systemic lupus erythematosus Disease 363567 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363567 Acute encephalopathy with inflammation-mediated status epilepticus Clinical group 163703 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163703 Febrile infection-related epilepsy syndrome Disease 363549 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363549 Acute encephalopathy with biphasic seizures and late reduced diffusion Disease 363558 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363558 New-onset refractory status epilepticus Disease 624166 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=624166 Non-specific autoimmune supratentorial encephalitis with characteristic antibodies Disease 624178 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=624178 Non-specific autoimmune supratentorial encephalitis without characteristic antibodies Disease 166487 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166487 Cerebral diseases of vascular origin with epilepsy Category 692271 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=692271 Cerebral proliferative angiopathy Disease 3205 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3205 Sturge-Weber syndrome Malformation syndrome 1062 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1062 Hereditary neurocutaneous malformation Disease 166490 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166490 Infectious disease with epilepsy Category 290 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=290 Congenital rubella syndrome Disease 858 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=858 Congenital toxoplasmosis Disease 2806 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2806 Subacute sclerosing leukoencephalitis Disease 294 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294 Fetal cytomegalovirus syndrome Disease 1930 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1930 Herpes simplex virus encephalitis Disease 297 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=297 Tick-borne encephalitis Disease 33475 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33475 Meningococcal meningitis Disease 55655 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=55655 Pneumococcal meningitis Disease 79139 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79139 Japanese encephalitis Disease 83476 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83476 West-Nile encephalitis Disease 83482 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83482 Mycoplasma encephalitis Disease 83483 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83483 La Crosse encephalitis Disease 83484 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83484 St. Louis encephalitis Disease 83593 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83593 Western equine encephalitis Disease 83594 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83594 Eastern equine encephalitis Disease 83595 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83595 Colorado tick fever Disease 83597 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83597 Acute disseminated encephalomyelitis Disease 592894 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=592894 Acute disseminated encephalomyelitis with anti-MOG antibodies Clinical subtype 592900 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=592900 Acute disseminated encephalomyelitis without anti-MOG antibodies Clinical subtype 83600 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83600 Encephalitis lethargica Disease 83616 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83616 Rubella panencephalitis Disease 637051 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=637051 Borna virus encephalitis Disease 102000 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=102000 Medullar disease Category 623801 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=623801 Acute flaccid myelitis Disease 2285 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2285 Primary basilar invagination Morphological anomaly 2585 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2585 Ataxia-pancytopenia syndrome Malformation syndrome 3280 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3280 Syringomyelia Clinical group 99856 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99856 Primary syringomyelia Morphological anomaly 99858 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99858 Idiopathic syringomyelia Clinical subtype 370034 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370034 Familial syringomyelia Clinical subtype 99857 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99857 Secondary syringomyelia Disease 831 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=831 Congenital cervical spinal stenosis Disease 90021 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90021 Radiation myelitis Disease 139417 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139417 Acute transverse myelitis Disease 592873 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=592873 Acute transverse myelitis with anti-MOG antibodies Clinical subtype 139423 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139423 Idiopathic acute transverse myelitis Clinical subtype 102002 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=102002 Rare ataxia Category 183518 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183518 Hereditary ataxia Category 502423 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=502423 Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome Disease 99 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99 Autosomal dominant cerebellar ataxia Category 94145 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94145 Autosomal dominant cerebellar ataxia type I Clinical group 98772 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98772 Spinocerebellar ataxia type 19/22 Disease 98773 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98773 Spinocerebellar ataxia type 21 Disease 101108 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101108 Spinocerebellar ataxia type 23 Disease 101109 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101109 Spinocerebellar ataxia type 28 Disease 101110 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101110 Spinocerebellar ataxia type 20 Disease 101111 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101111 Spinocerebellar ataxia type 25 Disease 208513 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=208513 Spinocerebellar ataxia type 29 Disease 276183 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276183 Spinocerebellar ataxia type 32 Disease 276193 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276193 Spinocerebellar ataxia type 35 Disease 276198 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276198 Spinocerebellar ataxia type 36 Disease 314404 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314404 Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome Disease 314647 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314647 Non-progressive cerebellar ataxia with intellectual disability Disease 363710 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363710 Spinocerebellar ataxia type 37 Disease 423275 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423275 Spinocerebellar ataxia type 40 Disease 1955 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1955 Spinocerebellar ataxia type 34 Disease 1171 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1171 Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome Disease 98755 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98755 Spinocerebellar ataxia type 1 Disease 98756 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98756 Spinocerebellar ataxia type 2 Disease 98757 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98757 Spinocerebellar ataxia type 3 Disease 276238 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276238 Machado-Joseph disease type 1 Clinical subtype 276241 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276241 Machado-Joseph disease type 2 Clinical subtype 276244 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276244 Machado-Joseph disease type 3 Clinical subtype 98759 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98759 Spinocerebellar ataxia type 17 Disease 98760 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98760 Spinocerebellar ataxia type 8 Disease 98762 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98762 Spinocerebellar ataxia type 12 Disease 98763 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98763 Spinocerebellar ataxia type 14 Disease 98764 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98764 Spinocerebellar ataxia type 27A Disease 98765 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98765 Spinocerebellar ataxia type 4 Disease 98768 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98768 Spinocerebellar ataxia type 13 Disease 98769 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98769 Spinocerebellar ataxia type 15/16 Disease 98771 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98771 Spinocerebellar ataxia type 18 Disease 497764 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=497764 Spinocerebellar ataxia type 43 Disease 589515 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589515 PUM1-associated developmental disability-ataxia-seizure syndrome Disease 589522 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589522 Spinocerebellar ataxia type 46 Disease 631103 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=631103 Spinocerebellar ataxia type 48 Disease 675216 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=675216 Spinocerebellar ataxia type 27B Disease 631106 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=631106 Spinocerebellar ataxia type 49 Disease 94148 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94148 Autosomal dominant cerebellar ataxia type III Clinical group 589527 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589527 Spinocerebellar ataxia type 45 Disease 631095 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=631095 Spinocerebellar ataxia type 44 Disease 98758 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98758 Spinocerebellar ataxia type 6 Disease 98766 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98766 Spinocerebellar ataxia type 5 Disease 98767 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98767 Spinocerebellar ataxia type 11 Disease 101112 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101112 Spinocerebellar ataxia type 26 Disease 211017 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=211017 Spinocerebellar ataxia type 30 Disease 217012 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217012 Spinocerebellar ataxia type 31 Disease 423296 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423296 Spinocerebellar ataxia type 38 Disease 458798 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=458798 Spinocerebellar ataxia type 41 Disease 458803 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=458803 Spinocerebellar ataxia type 42 Disease 94149 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94149 Autosomal dominant cerebellar ataxia type IV Clinical group 101 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101 Dentatorubral pallidoluysian atrophy Disease 98761 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98761 Spinocerebellar ataxia type 10 Disease 208508 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=208508 Autosomal dominant cerebellar ataxia type II Clinical group 94147 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94147 Spinocerebellar ataxia type 7 Disease 642747 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=642747 PUM1-related cerebellar ataxia Disease 1178 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1178 Ataxia-tapetoretinal degeneration syndrome Disease 1173 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1173 Cerebellar ataxia-hypogonadism syndrome Disease 1180 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1180 Ataxia-hypogonadism-choroidal dystrophy syndrome Disease 1185 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1185 Spinocerebellar ataxia-dysmorphism syndrome Disease 1368 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1368 Cataract-ataxia-deafness syndrome Disease 1399 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1399 Richards-Rundle syndrome Malformation syndrome 2274 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2274 Ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome Disease 2579 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2579 Muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome Disease 2589 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2589 Myoclonus-cerebellar ataxia-deafness syndrome Malformation syndrome 3177 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3177 Spinocerebellar degeneration-corneal dystrophy syndrome Malformation syndrome 1172 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1172 Autosomal recessive cerebellar ataxia Clinical group 88644 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88644 Autosomal recessive ataxia, Beauce type Disease 98095 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98095 Autosomal recessive congenital cerebellar ataxia Category 1170 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1170 Autosomal recessive cerebelloparenchymal disorder type 3 Disease 1766 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1766 Dysequilibrium syndrome Disease 83472 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83472 CAMOS syndrome Malformation syndrome 94122 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94122 Cerebellar ataxia, Cayman type Disease 140874 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140874 Joubert syndrome and related disorders Category 2318 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2318 Joubert syndrome with oculorenal defect Malformation syndrome 475 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=475 Isolated Joubert syndrome Malformation syndrome 1454 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1454 Joubert syndrome with hepatic defect Disease 2754 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2754 Orofaciodigital syndrome type 6 Malformation syndrome 220493 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=220493 Joubert syndrome with ocular defect Malformation syndrome 220497 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=220497 Joubert syndrome with renal defect Malformation syndrome 397715 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397715 Joubert syndrome with Jeune asphyxiating thoracic dystrophy Malformation syndrome 453521 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=453521 Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency Disease 512260 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=512260 Congenital cerebellar ataxia due to RNU12 mutation Disease 98096 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98096 Autosomal recessive metabolic cerebellar ataxia Category 642965 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=642965 Autosomal recessive ataxia due to PEX2 deficiency Disease 96 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96 Ataxia with vitamin E deficiency Disease 14 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=14 Abetalipoproteinemia Disease 773 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=773 Adult Refsum disease Disease 909 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=909 Cerebrotendinous xanthomatosis Disease 772 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=772 Infantile Refsum disease Disease 94125 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94125 Recessive mitochondrial ataxia syndrome Disease 247815 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247815 Autosomal recessive ataxia due to PEX10 deficiency Disease 352641 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352641 Autosomal recessive cerebellar ataxia with late-onset spasticity Disease 363429 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363429 Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome Disease 324262 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324262 Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency Clinical subtype 363432 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363432 Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency Clinical subtype 95433 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95433 Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome Disease 642954 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=642954 Autosomal recessive ataxia due to PEX16 deficiency Disease 98097 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98097 Autosomal recessive cerebellar ataxia due to a DNA repair defect Category 100 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100 Ataxia-telangiectasia Disease 1168 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1168 Ataxia-oculomotor apraxia type 1 Disease 64753 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=64753 Spinocerebellar ataxia with axonal neuropathy type 2 Disease 94124 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94124 Spinocerebellar ataxia with axonal neuropathy type 1 Disease 220295 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=220295 Xeroderma pigmentosum-Cockayne syndrome complex Disease 251347 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251347 Ataxia-telangiectasia-like disorder Disease 910 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=910 Xeroderma pigmentosum Disease 420741 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=420741 RIDDLE syndrome Malformation syndrome 98098 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98098 Autosomal recessive degenerative and progressive cerebellar ataxia Category 95 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95 Friedreich ataxia Disease 1177 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1177 Early-onset cerebellar ataxia with retained tendon reflexes Disease 1186 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1186 Infantile-onset spinocerebellar ataxia Disease 559 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=559 Marinesco-Sjögren syndrome Disease 48431 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=48431 Congenital cataracts-facial dysmorphism-neuropathy syndrome Malformation syndrome 88628 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88628 Posterior column ataxia-retinitis pigmentosa syndrome Disease 694922 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=694922 Childhood-onset stress-induced neurodegenerative ataxia-seizure syndrome Disease 496756 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=496756 Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome Disease 98099 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98099 Autosomal recessive syndromic cerebellar ataxia Category 95434 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95434 Autosomal recessive cerebellar ataxia-movement disorder syndrome Disease 284271 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284271 Autosomal recessive cerebellar ataxia-psychomotor delay syndrome Disease 459033 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=459033 Ataxia-oculomotor apraxia type 4 Disease 2074 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2074 Gemignani syndrome Malformation syndrome 504476 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=504476 Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome Disease 466794 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466794 Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome Disease 139485 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139485 Autosomal recessive ataxia due to ubiquinone deficiency Disease 284289 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284289 Adult-onset autosomal recessive cerebellar ataxia Disease 284324 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284324 Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia Disease 284332 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284332 Infantile-onset autosomal recessive nonprogressive cerebellar ataxia Disease 352403 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352403 Spectrin-associated autosomal recessive cerebellar ataxia Disease 404481 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404481 Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome Clinical group 284282 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284282 Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency Disease 404493 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404493 Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency Disease 404499 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404499 Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency Disease 412057 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=412057 Autosomal recessive cerebellar ataxia due to STUB1 deficiency Disease 99013 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99013 Spastic paraplegia type 7 Disease 199343 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199343 EAST syndrome Disease 211062 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=211062 Hereditary episodic ataxia Category 97 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97 Familial paroxysmal ataxia Disease 37612 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=37612 Episodic ataxia type 1 Disease 79135 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79135 Episodic ataxia type 3 Disease 79136 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79136 Episodic ataxia type 4 Disease 209967 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209967 Episodic ataxia type 6 Disease 209970 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209970 Episodic ataxia type 7 Disease 211067 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=211067 Episodic ataxia type 5 Disease 401953 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401953 Episodic ataxia with slurred speech Disease 247765 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247765 X-linked cerebellar ataxia Category 1175 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1175 X-linked progressive cerebellar ataxia Disease 1187 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1187 Lethal ataxia with deafness and optic atrophy Disease 1188 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1188 Ataxia-deafness-intellectual disability syndrome Malformation syndrome 2802 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2802 X-linked sideroblastic anemia and spinocerebellar ataxia Disease 85278 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85278 Christianson syndrome Malformation syndrome 85292 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85292 X-linked spinocerebellar ataxia type 4 Disease 85297 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85297 X-linked spinocerebellar ataxia type 3 Malformation syndrome 85338 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85338 X-linked intellectual disability-ataxia-apraxia syndrome Disease 93256 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93256 Fragile X-associated tremor/ataxia syndrome Malformation syndrome 314978 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314978 X-linked non progressive cerebellar ataxia Disease 316226 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=316226 Spastic ataxia Clinical group 316235 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=316235 Autosomal dominant spastic ataxia Category 1182 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1182 Spastic ataxia with congenital miosis Disease 251282 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251282 Autosomal dominant spastic ataxia type 1 Disease 316240 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=316240 Autosomal recessive spastic ataxia Category 98 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98 Autosomal recessive spastic ataxia of Charlevoix-Saguenay Disease 2572 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2572 Spastic ataxia-corneal dystrophy syndrome Disease 254343 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254343 Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome Disease 313772 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=313772 Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome Disease 314603 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314603 Autosomal recessive spastic ataxia with leukoencephalopathy Disease 557056 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=557056 Spastic ataxia-dysarthria due to glutaminase deficiency Disease 527497 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=527497 NKX6-2-related autosomal recessive hypomyelinating leukodystrophy Disease 401866 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401866 Childhood-onset spasticity with hyperglycinemia Disease 445062 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=445062 Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome Disease 2672 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2672 Neuhauser-Eichner-Opitz syndrome Malformation syndrome 1184 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1184 Ataxia-photosensitivity-short stature syndrome Malformation syndrome 1236 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1236 Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome Malformation syndrome 447896 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447896 Tremor-ataxia-central hypomyelination syndrome Clinical subtype 599376 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=599376 Hypomyelination of early myelinating structures Disease 572543 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=572543 RFVT2-related riboflavin transporter deficiency Clinical subtype 247239 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247239 Non-hereditary degenerative ataxia Category 227510 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=227510 Multiple system atrophy, cerebellar type Clinical subtype 247234 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247234 Sporadic adult-onset ataxia of unknown etiology Disease 247242 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247242 Acquired ataxia Category 623638 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=623638 Immune-mediated cerebellar ataxia Clinical group 624268 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=624268 Non-specific autoimmune cerebellar ataxia without characteristic antibodies Disease 623626 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=623626 Paraneoplastic cerebellar degeneration Disease 624244 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=624244 Postinfectious cerebellitis Disease 624259 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=624259 Non-specific autoimmune cerebellar ataxia with characteristic antibodies Disease 83601 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83601 Steroid-responsive encephalopathy associated with autoimmune thyroiditis Disease 247245 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247245 Superficial siderosis Disease 102003 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=102003 Rare movement disorder Category 3198 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3198 Stiff person spectrum disorder Disease 438266 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=438266 Progressive encephalomyelitis with rigidity and myoclonus Clinical subtype 443192 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443192 Classic stiff person syndrome Clinical subtype 443804 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443804 Focal stiff limb syndrome Clinical subtype 68402 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=68402 Rare parkinsonian disorder Category 71517 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71517 Rapid-onset dystonia-parkinsonism Disease 306666 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306666 Rare parkinsonian syndrome due to neurodegenerative disease Category 2828 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2828 Young-onset Parkinson disease Disease 2379 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2379 Early-onset parkinsonism-intellectual disability syndrome Disease 53351 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53351 X-linked dystonia-parkinsonism Disease 75567 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75567 Primary progressive freezing gait Clinical syndrome 83600 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83600 Encephalitis lethargica Disease 97349 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97349 Postencephalitic parkinsonism Disease 97355 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97355 Caribbean parkinsonism Disease 98933 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98933 Multiple system atrophy, parkinsonian type Clinical subtype 171695 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171695 Parkinsonian-pyramidal syndrome Disease 178509 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178509 Perry syndrome Disease 199351 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199351 Adult-onset dystonia-parkinsonism Disease 210571 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=210571 Dystonia 16 Disease 228169 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228169 Autosomal dominant striatal neurodegeneration Disease 238455 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238455 Infantile dystonia-parkinsonism Disease 306669 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306669 Hemiparkinsonism-hemiatrophy syndrome Disease 309854 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309854 Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome Disease 514980 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=514980 ATP13A2-related parkinsonism Clinical group 314632 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314632 CLN12 disease Disease 306674 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306674 Kufor-Rakeb syndrome Disease 363654 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363654 X-linked parkinsonism-spasticity syndrome Disease 391411 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391411 Atypical juvenile parkinsonism Disease 411602 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=411602 Hereditary late-onset Parkinson disease Disease 1980 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1980 Bilateral striopallidodentate calcinosis Disease 240085 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=240085 Progressive supranuclear palsy-predominant parkinsonism syndrome Clinical subtype 611237 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=611237 Parkinsonism with polyneuropathy Disease 454887 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=454887 Corticobasal syndrome Disease 306679 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306679 Rare parkinsonian syndrome due to intoxication Category 306682 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306682 Manganese poisoning Disease 306686 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306686 Delayed encephalopathy due to carbon monoxide poisoning Disease 306692 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306692 Cyanide-induced parkinsonism-dystonia Disease 391655 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391655 Off-periods in Parkinson disease not responding to oral treatment Particular clinical situation in a disease or syndrome 71519 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71519 Psychogenic movement disorders Clinical syndrome 238722 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238722 Familial congenital mirror movements Disease 306695 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306695 Miscellaneous movement disorder due to neurodegenerative disease Category 385 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=385 Neurodegeneration with brain iron accumulation Clinical group 3464 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3464 Woodhouse-Sakati syndrome Disease 48818 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=48818 Aceruloplasminemia Disease 157846 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157846 Neuroferritinopathy Disease 157850 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157850 Pantothenate kinase-associated neurodegeneration Disease 216866 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216866 Classic pantothenate kinase-associated neurodegeneration Clinical subtype 216873 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216873 Atypical pantothenate kinase-associated neurodegeneration Clinical subtype 289560 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289560 Mitochondrial membrane protein-associated neurodegeneration Disease 306674 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306674 Kufor-Rakeb syndrome Disease 329284 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329284 Beta-propeller protein-associated neurodegeneration Disease 329303 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329303 PLA2G6-associated neurodegeneration Clinical group 35069 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35069 Infantile neuroaxonal dystrophy Disease 199351 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199351 Adult-onset dystonia-parkinsonism Disease 329308 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329308 Fatty acid hydroxylase-associated neurodegeneration Disease 397725 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397725 COASY protein-associated neurodegeneration Disease 496756 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=496756 Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome Disease 204 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=204 Sporadic Creutzfeldt-Jakob disease Disease 1576 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1576 Infantile bilateral striatal necrosis Clinical group 225147 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=225147 Sporadic infantile bilateral striatal necrosis Disease 225154 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=225154 Familial infantile bilateral striatal necrosis Disease 102 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=102 Multiple system atrophy Disease 98933 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98933 Multiple system atrophy, parkinsonian type Clinical subtype 227510 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=227510 Multiple system atrophy, cerebellar type Clinical subtype 98759 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98759 Spinocerebellar ataxia type 17 Disease 157946 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157946 Huntington disease-like 3 Disease 263440 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263440 Neuroacanthocytosis Clinical group 2388 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2388 Choreoacanthocytosis Disease 59306 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=59306 McLeod neuroacanthocytosis syndrome Disease 98934 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98934 Huntington disease-like 2 Disease 157850 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157850 Pantothenate kinase-associated neurodegeneration Disease 216866 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216866 Classic pantothenate kinase-associated neurodegeneration Clinical subtype 216873 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216873 Atypical pantothenate kinase-associated neurodegeneration Clinical subtype 282166 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=282166 Inherited Creutzfeldt-Jakob disease Disease 306708 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306708 Frontotemporal neurodegeneration with movement disorder Category 683 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=683 Progressive supranuclear palsy Disease 99750 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99750 Atypical progressive supranuclear palsy syndrome Clinical subtype 240085 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=240085 Progressive supranuclear palsy-predominant parkinsonism syndrome Clinical subtype 240094 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=240094 Progressive supranuclear palsy-pure akinesia with gait freezing syndrome Clinical subtype 240103 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=240103 Progressive supranuclear palsy-corticobasal syndrome Clinical subtype 240112 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=240112 Progressive supranuclear palsy-progressive non-fluent aphasia syndrome Clinical subtype 240071 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=240071 Classic progressive supranuclear palsy syndrome Clinical subtype 454887 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=454887 Corticobasal syndrome Disease 100070 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100070 Progressive non-fluent aphasia Disease 275864 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=275864 Behavioral variant of frontotemporal dementia Disease 275872 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=275872 Frontotemporal dementia with motor neuron disease Disease 401768 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401768 Proximal myopathy with extrapyramidal signs Disease 454700 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=454700 Acquired Creutzfeldt-Jakob disease Clinical group 576370 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=576370 Variant Creutzfeldt-Jakob disease Disease 576379 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=576379 Iatrogenic Creutzfeldt-Jakob disease Disease 454745 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=454745 Kuru Disease 454742 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=454742 Variably protease-sensitive prionopathy Disease 500180 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=500180 Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder Disease 306768 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306768 Rare paroxysmal movement disorder Category 1179 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1179 Benign paroxysmal tonic upgaze of childhood with ataxia Disease 71272 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71272 Sandifer syndrome Disease 200037 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=200037 Paroxysmal dystonia Clinical group 1431 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1431 Paroxysmal dyskinesia Clinical group 98809 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98809 Paroxysmal kinesigenic dyskinesia Disease 98810 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98810 Paroxysmal non-kinesigenic dyskinesia Disease 98811 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98811 Paroxysmal exertion-induced dyskinesia Disease 53583 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53583 Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity Disease 71518 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71518 Benign paroxysmal torticollis of infancy Disease 324588 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324588 Familial dyskinesia and facial myokymia Disease 306773 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306773 Hyperekplexia Clinical group 3197 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3197 Hereditary hyperekplexia Disease 163985 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163985 Hyperekplexia-epilepsy syndrome Disease 306776 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306776 Sporadic hyperekplexia Disease 617440 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=617440 Painful legs and moving toes syndrome Clinical syndrome 494457 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=494457 Rare hyperkinetic movement disorder Category 68363 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=68363 Rare dystonia Category 98203 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98203 Combined dystonia Category 200037 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=200037 Paroxysmal dystonia Clinical group 1431 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1431 Paroxysmal dyskinesia Clinical group 98809 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98809 Paroxysmal kinesigenic dyskinesia Disease 98810 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98810 Paroxysmal non-kinesigenic dyskinesia Disease 98811 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98811 Paroxysmal exertion-induced dyskinesia Disease 53583 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53583 Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity Disease 71518 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71518 Benign paroxysmal torticollis of infancy Disease 391711 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391711 Persistent combined dystonia Clinical group 521406 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=521406 Dystonia-parkinsonism-hypermanganesemia syndrome Disease 255 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=255 Dopa-responsive dystonia Clinical group 101150 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101150 Autosomal recessive dopa-responsive dystonia Disease 70594 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=70594 Dopa-responsive dystonia due to sepiapterin reductase deficiency Disease 98808 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98808 Autosomal dominant dopa-responsive dystonia Disease 36899 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=36899 Myoclonus-dystonia syndrome Disease 53351 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53351 X-linked dystonia-parkinsonism Disease 71517 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71517 Rapid-onset dystonia-parkinsonism Disease 199351 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199351 Adult-onset dystonia-parkinsonism Disease 210571 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=210571 Dystonia 16 Disease 238455 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238455 Infantile dystonia-parkinsonism Disease 352649 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352649 Brain dopamine-serotonin vesicular transport disease Disease 364063 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=364063 Infantile epileptic-dyskinetic encephalopathy Disease 370109 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370109 Ataxia-telangiectasia variant Disease 412217 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=412217 Dystonia-aphonia syndrome Disease 508093 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=508093 MEPAN syndrome Malformation syndrome 508523 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=508523 Hyperphenylalaninemia due to DNAJC12 deficiency Disease 589618 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589618 Dystonia 28 Disease 156159 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=156159 Isolated dystonia Category 1866 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1866 Focal, segmental or multifocal dystonia Category 93958 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93958 Oromandibular dystonia Disease 93964 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93964 Blepharospasm-oromandibular dystonia syndrome Disease 98805 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98805 Primary dystonia, DYT4 type Disease 98807 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98807 Primary dystonia, DYT13 type Disease 99657 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99657 Primary dystonia, DYT2 type Disease 329466 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329466 Autosomal dominant focal dystonia, DYT25 type Disease 370103 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370103 Primary dystonia, DYT17 type Disease 420485 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=420485 Cranio-cervical dystonia with laryngeal and upper-limb involvement Disease 420492 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=420492 Adult-onset cervical dystonia, DYT23 type Disease 464440 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=464440 Primary dystonia, DYT27 type Disease 494526 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=494526 Infantile-onset generalized dyskinesia with orofacial involvement Disease 376724 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=376724 Generalized isolated dystonia Category 256 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=256 Early-onset generalized limb-onset dystonia Disease 98806 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98806 Primary dystonia, DYT6 type Disease 306734 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306734 Primary dystonia, DYT21 type Disease 306741 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306741 Hemidystonia-hemiatrophy syndrome Disease 370106 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370106 Rare disorder with dystonia and other neurologic or systemic manifestation Category 905 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=905 Wilson disease Disease 3464 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3464 Woodhouse-Sakati syndrome Disease 79107 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79107 Developmental malformations-deafness-dystonia syndrome Malformation syndrome 369939 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369939 Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome Malformation syndrome 497906 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=497906 Childhood-onset basal ganglia degeneration syndrome Disease 459033 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=459033 Ataxia-oculomotor apraxia type 4 Disease 597623 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=597623 IRF2BPL-related regressive neurodevelopmental disorder-dystonia-seizures syndrome Disease 660017 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=660017 Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome Disease 1617 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1617 Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to 2q24 microdeletion Etiological subtype 660012 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=660012 Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to a NR4A2 point mutation Etiological subtype 306712 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306712 Rare tremor disorder Category 905 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=905 Wilson disease Disease 3350 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3350 Tremor-nystagmus-duodenal ulcer syndrome Disease 53372 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53372 Hereditary geniospasm Disease 66633 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=66633 Sensorineural hearing loss-early graying-essential tremor syndrome Disease 93256 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93256 Fragile X-associated tremor/ataxia syndrome Malformation syndrome 238606 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238606 Primary orthostatic tremor Disease 457212 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457212 Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome Disease 306715 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306715 Rare choreic movement disorder Category 306719 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306719 Neurodegenerative disease with chorea Category 494541 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=494541 Childhood-onset benign chorea with striatal involvement Disease 399 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=399 Huntington disease Disease 1429 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1429 Benign hereditary chorea Disease 157941 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157941 Huntington disease-like 1 Disease 209905 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209905 Brain-lung-thyroid syndrome Disease 248111 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=248111 Juvenile Huntington disease Disease 401901 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401901 Huntington disease-like syndrome due to C9ORF72 expansions Disease 306727 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306727 Postinfectious autoimmune disease with chorea Category 66624 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=66624 PANDAS Disease 306731 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306731 Sydenham chorea Particular clinical situation in a disease or syndrome 369847 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369847 Intellectual disability-hyperkinetic movement-truncal ataxia syndrome Disease 306747 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306747 Rare myoclonus Category 306750 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306750 Primary myoclonus Category 36899 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=36899 Myoclonus-dystonia syndrome Disease 86814 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86814 Familial adult myoclonic epilepsy Disease 319189 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319189 Familial cortical myoclonus Disease 221083 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=221083 Hemifacial spasm Disease 306753 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306753 Rare disease with myoclonus as a major feature Category 3452 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3452 Whipple disease Disease 1183 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1183 Opsoclonus-myoclonus syndrome Disease 306756 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306756 Epilepsy and/or ataxia with myoclonus as a major feature Category 306759 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306759 Non progressive epilepsy and/or ataxia with myoclonus as a major feature Category 307 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=307 Juvenile myoclonic epilepsy Disease 86911 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86911 Epilepsy with myoclonic absences Disease 98261 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98261 Progressive myoclonic epilepsy Clinical group 551 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=551 MERRF Disease 501 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=501 Lafora disease Disease 308 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308 Progressive myoclonic epilepsy type 1 Disease 228346 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228346 CLN3 disease Disease 699780 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699780 Juvenile CLN3 disease Clinical subtype 699796 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699796 Protracted juvenile CLN3 disease Clinical subtype 228343 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228343 CLN4 disease Disease 228360 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228360 CLN5 disease Disease 699802 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699802 Late infantile CLN5 disease Clinical subtype 699807 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699807 Juvenile CLN5 disease Clinical subtype 699812 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699812 Adult CLN5 disease Clinical subtype 85110 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85110 Familial encephalopathy with neuroserpin inclusion bodies Disease 530303 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=530303 Progressive dementia with neuroserpin inclusion bodies Clinical subtype 530298 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=530298 Progressive myoclonic epilepsy with neuroserpin inclusion bodies Clinical subtype 228329 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228329 CLN1 disease Disease 699718 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699718 Infantile CLN1 disease Clinical subtype 699739 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699739 Juvenile CLN1 disease Clinical subtype 699745 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699745 Adult CLN1 disease Clinical subtype 699734 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699734 Late infantile CLN1 disease Clinical subtype 228349 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228349 CLN2 disease Disease 699751 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699751 Infantile CLN2 disease Clinical subtype 699769 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699769 Juvenile CLN2 disease Clinical subtype 699761 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699761 Late infantile CLN2 disease Clinical subtype 280620 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280620 Progressive myoclonic epilepsy type 6 Disease 324290 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324290 PRDM8-related progressive myoclonus epilepsy Disease 402082 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=402082 Progressive myoclonic epilepsy type 5 Disease 424027 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=424027 Progressive myoclonic epilepsy type 8 Disease 435438 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=435438 Progressive myoclonic epilepsy type 7 Disease 228363 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228363 CLN6 disease Disease 700477 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700477 Adult CLN6 disease Clinical subtype 700467 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700467 Late infantile CLN6 disease Clinical subtype 700472 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700472 Juvenile CLN6 disease Clinical subtype 228366 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228366 CLN7 disease Disease 228354 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228354 CLN8 disease Disease 700484 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700484 Late infantile CLN8 disease Clinical subtype 1947 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1947 Northern epilepsy Clinical subtype 228337 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228337 CLN10 disease Disease 700487 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700487 Congenital CLN10 disease Clinical subtype 700492 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700492 Late infantile CLN10 disease Clinical subtype 700497 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700497 Juvenile CLN10 disease Clinical subtype 352709 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352709 CLN13 disease Disease 263516 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263516 Progressive myoclonic epilepsy type 3 Disease 457265 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457265 Progressive myoclonic epilepsy type 9 Disease 314629 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314629 CLN11 disease Disease 2590 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2590 Spinal muscular atrophy-progressive myoclonic epilepsy syndrome Disease 306765 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306765 Motor stereotypies Category 561854 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=561854 FOXG1 syndrome Disease 598164 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=598164 FOXG1 syndrome due to intragenic alteration Clinical subtype 261144 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261144 FOXG1 syndrome due to 14q12 microdeletion Clinical subtype 505652 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=505652 CDKL5-deficiency disorder Disease 778 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=778 Rett syndrome Disease 908 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=908 Fragile X syndrome Malformation syndrome 904 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=904 Williams syndrome Malformation syndrome 3095 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3095 Atypical Rett syndrome Disease 522077 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=522077 Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome Disease 592564 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=592564 GNAO1-related developmental delay-seizures-movement disorder spectrum Disease 684240 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=684240 Neurodevelopmental disorder-spasticity-movement disorder-epileptic syndrome Malformation syndrome 137817 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137817 Arachnoiditis Disease 137929 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137929 Neonatal brainstem dysfunction Disease 178506 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178506 Interstitial lung disease-brain calcification syndrome Disease 182064 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=182064 Rare neuroinflammatory or neuroimmunological disease Category 499096 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=499096 Isolated optic neuritis Disease 499085 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=499085 Chronic relapsing inflammatory optic neuritis Clinical subtype 659634 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=659634 Relapsing isolated optic neuritis Clinical subtype 659626 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=659626 Single isolated optic neuritis Clinical subtype 2103 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2103 Guillain-Barré syndrome Clinical group 98916 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98916 Acute inflammatory demyelinating polyradiculoneuropathy Disease 98917 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98917 Acute motor and sensory axonal neuropathy Disease 98918 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98918 Acute motor axonal neuropathy Disease 231413 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231413 Variant of Guillain-Barré syndrome Category 231416 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231416 Regional variant of Guillain-Barré syndrome Clinical group 79138 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79138 Bickerstaff brainstem encephalitis Disease 98919 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98919 Miller Fisher syndrome Disease 231426 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231426 Pharyngeal-cervical-brachial variant of Guillain-Barré syndrome Disease 480701 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480701 Facial diplegia with paresthesias Disease 231419 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231419 Functional variant of Guillain-Barré syndrome Clinical group 231445 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231445 Paraparetic variant of Guillain-Barré syndrome Disease 231450 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231450 Acute pure sensory neuropathy Disease 231457 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231457 Acute pandysautonomia Disease 231466 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231466 Acute sensory ataxic neuropathy Disease 3198 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3198 Stiff person spectrum disorder Disease 438266 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=438266 Progressive encephalomyelitis with rigidity and myoclonus Clinical subtype 443192 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443192 Classic stiff person syndrome Clinical subtype 443804 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443804 Focal stiff limb syndrome Clinical subtype 2932 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2932 Chronic inflammatory demyelinating polyneuropathy Disease 48162 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=48162 Lewis-Sumner syndrome Clinical subtype 3437 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3437 Vogt-Koyanagi-Harada disease Disease 71279 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71279 CANOMAD syndrome Disease 102005 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=102005 Brain inflammatory disease Category 540 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=540 Familial hemophagocytic lymphohistiocytosis Disease 1214 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1214 Progressive hemifacial atrophy Disease 1183 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1183 Opsoclonus-myoclonus syndrome Disease 79476 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79476 Griscelli syndrome type 1 Clinical subtype 97275 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97275 Encephalitis Category 622014 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=622014 Autoimmune encephalitis Clinical group 624190 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=624190 Paraneoplastic isolated brainstem encephalitis Disease 217253 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217253 NMDA receptor encephalitis Disease 79138 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79138 Bickerstaff brainstem encephalitis Disease 83597 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83597 Acute disseminated encephalomyelitis Disease 592894 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=592894 Acute disseminated encephalomyelitis with anti-MOG antibodies Clinical subtype 592900 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=592900 Acute disseminated encephalomyelitis without anti-MOG antibodies Clinical subtype 83601 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83601 Steroid-responsive encephalopathy associated with autoimmune thyroiditis Disease 623615 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=623615 Autoimmune limbic encephalitis Disease 623638 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=623638 Immune-mediated cerebellar ataxia Clinical group 624268 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=624268 Non-specific autoimmune cerebellar ataxia without characteristic antibodies Disease 623626 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=623626 Paraneoplastic cerebellar degeneration Disease 624244 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=624244 Postinfectious cerebellitis Disease 624259 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=624259 Non-specific autoimmune cerebellar ataxia with characteristic antibodies Disease 624166 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=624166 Non-specific autoimmune supratentorial encephalitis with characteristic antibodies Disease 624178 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=624178 Non-specific autoimmune supratentorial encephalitis without characteristic antibodies Disease 624199 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=624199 Non-specific autoimmune brainstem encephalitis with characteristic antibodies Disease 624216 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=624216 Non-specific autoimmune brainstem encephalitis without characteristic antibodies Disease 163921 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163921 Posttransplant acute limbic encephalitis Particular clinical situation in a disease or syndrome 98252 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98252 Infectious encephalitis Category 324625 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324625 Chikungunya Disease 1930 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1930 Herpes simplex virus encephalitis Disease 297 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=297 Tick-borne encephalitis Disease 79139 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79139 Japanese encephalitis Disease 83476 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83476 West-Nile encephalitis Disease 83482 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83482 Mycoplasma encephalitis Disease 83483 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83483 La Crosse encephalitis Disease 83484 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83484 St. Louis encephalitis Disease 83593 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83593 Western equine encephalitis Disease 83594 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83594 Eastern equine encephalitis Disease 83595 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83595 Colorado tick fever Disease 83616 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83616 Rubella panencephalitis Disease 99825 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99825 Nipah virus disease Disease 217260 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217260 Progressive multifocal leukoencephalopathy Disease 263524 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263524 Acute necrotizing encephalopathy of childhood Disease 324632 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324632 Hendra virus infection Disease 637051 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=637051 Borna virus encephalitis Disease 98255 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98255 Chronic encephalitis Category 1929 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1929 Rasmussen subacute encephalitis Disease 83600 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83600 Encephalitis lethargica Disease 2806 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2806 Subacute sclerosing leukoencephalitis Disease 83616 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83616 Rubella panencephalitis Disease 391343 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391343 Fatal post-viral neurodegenerative disorder Disease 48435 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=48435 Postinfectious vasculitis Disease 449427 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=449427 IgG4-related pachymeningitis Clinical subtype 228145 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228145 Multiple sclerosis variant Category 59298 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=59298 Schilder disease Disease 71211 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71211 Neuromyelitis optica spectrum disorder Disease 592850 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=592850 Neuromyelitis optica spectrum disorder with anti-AQP4 antibodies Clinical subtype 592869 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=592869 Neuromyelitis optica spectrum disorder without anti-MOG and without anti-AQP4 antibodies Clinical subtype 592856 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=592856 Neuromyelitis optica spectrum disorder with anti-MOG antibodies Clinical subtype 83597 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83597 Acute disseminated encephalomyelitis Disease 592894 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=592894 Acute disseminated encephalomyelitis with anti-MOG antibodies Clinical subtype 592900 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=592900 Acute disseminated encephalomyelitis without anti-MOG antibodies Clinical subtype 228157 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228157 Marburg acute multiple sclerosis Disease 228165 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228165 Baló concentric sclerosis Disease 477738 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=477738 Pediatric multiple sclerosis Disease 284448 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284448 CLIPPERS Disease 182070 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=182070 Rare neurodegenerative disease Category 556985 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=556985 Early-onset calcifying leukoencephalopathy-skeletal dysplasia Disease 610573 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=610573 CLCN6-related childhood-onset progressive neurodegeneration-peripheral neuropathy syndrome Disease 569274 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=569274 Multiple mitochondrial dysfunctions syndrome type 5 Disease 684290 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=684290 Hypertrophic olivary degeneration Disease 621758 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=621758 Fibrosis-neurodegeneration-cerebral angiomatosis syndrome Disease 569290 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=569290 Multiple mitochondrial dysfunctions syndrome type 6 Disease 496641 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=496641 Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome Malformation syndrome 480864 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480864 Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome Disease 478029 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=478029 Combined oxidative phosphorylation defect type 29 Disease 58 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=58 Alexander disease Disease 363717 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363717 Alexander disease type I Clinical subtype 363722 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363722 Alexander disease type II Clinical subtype 141 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141 Canavan disease Disease 314911 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314911 Severe Canavan disease Clinical subtype 314918 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314918 Mild Canavan disease Clinical subtype 487 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=487 Krabbe disease Disease 206443 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206443 Late-infantile/juvenile Krabbe disease Clinical subtype 206448 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206448 Adult Krabbe disease Clinical subtype 206436 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206436 Infantile Krabbe disease Clinical subtype 803 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=803 Amyotrophic lateral sclerosis Disease 481 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=481 Kennedy disease Disease 167 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=167 Chédiak-Higashi syndrome Disease 191 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=191 Cockayne syndrome Disease 1466 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1466 COFS syndrome Clinical subtype 90321 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90321 Cockayne syndrome type 1 Clinical subtype 90322 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90322 Cockayne syndrome type 2 Clinical subtype 90324 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90324 Cockayne syndrome type 3 Clinical subtype 216 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216 Neuronal ceroid lipofuscinosis Clinical group 228329 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228329 CLN1 disease Disease 699718 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699718 Infantile CLN1 disease Clinical subtype 699739 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699739 Juvenile CLN1 disease Clinical subtype 699745 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699745 Adult CLN1 disease Clinical subtype 699734 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699734 Late infantile CLN1 disease Clinical subtype 228349 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228349 CLN2 disease Disease 699751 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699751 Infantile CLN2 disease Clinical subtype 699769 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699769 Juvenile CLN2 disease Clinical subtype 699761 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699761 Late infantile CLN2 disease Clinical subtype 228346 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228346 CLN3 disease Disease 699780 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699780 Juvenile CLN3 disease Clinical subtype 699796 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699796 Protracted juvenile CLN3 disease Clinical subtype 228343 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228343 CLN4 disease Disease 314632 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314632 CLN12 disease Disease 314629 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314629 CLN11 disease Disease 699708 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699708 CLN14 disease Disease 228360 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228360 CLN5 disease Disease 699802 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699802 Late infantile CLN5 disease Clinical subtype 699807 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699807 Juvenile CLN5 disease Clinical subtype 699812 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699812 Adult CLN5 disease Clinical subtype 228363 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228363 CLN6 disease Disease 700477 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700477 Adult CLN6 disease Clinical subtype 700467 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700467 Late infantile CLN6 disease Clinical subtype 700472 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700472 Juvenile CLN6 disease Clinical subtype 228366 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228366 CLN7 disease Disease 228354 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228354 CLN8 disease Disease 700484 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700484 Late infantile CLN8 disease Clinical subtype 1947 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1947 Northern epilepsy Clinical subtype 352709 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352709 CLN13 disease Disease 228337 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228337 CLN10 disease Disease 700487 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700487 Congenital CLN10 disease Clinical subtype 700492 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700492 Late infantile CLN10 disease Clinical subtype 700497 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700497 Juvenile CLN10 disease Clinical subtype 685 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=685 Hereditary spastic paraplegia Clinical group 102012 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=102012 Pure hereditary spastic paraplegia Clinical group 100980 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100980 Autosomal dominant pure spastic paraplegia Clinical group 100993 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100993 Autosomal dominant spastic paraplegia type 12 Disease 100999 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100999 Autosomal dominant spastic paraplegia type 19 Disease 171612 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171612 Autosomal dominant spastic paraplegia type 37 Disease 171863 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171863 Autosomal dominant spastic paraplegia type 42 Disease 320355 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=320355 Autosomal dominant spastic paraplegia type 41 Disease 401849 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401849 Autosomal spastic paraplegia type 72 Disease 444099 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=444099 Autosomal dominant spastic paraplegia type 73 Disease 689231 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=689231 IFIH1-related hereditary spastic paraplegia Disease 694356 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=694356 ADAR-related hereditary spastic paraplegia Disease 631068 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=631068 Autosomal dominant spastic paraplegia type 80 Disease 100982 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100982 Autosomal recessive pure spastic paraplegia Clinical group 101004 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101004 Autosomal recessive spastic paraplegia type 24 Disease 101008 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101008 Autosomal recessive spastic paraplegia type 28 Disease 401785 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401785 Autosomal recessive spastic paraplegia type 62 Disease 401840 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401840 Autosomal recessive spastic paraplegia type 71 Disease 401849 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401849 Autosomal spastic paraplegia type 72 Disease 631076 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=631076 Autosomal recessive spastic paraplegia type 83 Disease 689234 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=689234 RNASEH2B-related hereditary spastic paraplegia Disease 320332 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=320332 X-linked pure spastic paraplegia Clinical group 171607 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171607 X-linked spastic paraplegia type 34 Disease 102013 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=102013 Complex hereditary spastic paraplegia Clinical group 98888 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98888 X-linked complex spastic paraplegia Clinical group 2466 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2466 MASA syndrome Clinical subtype 100979 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100979 Autosomal dominant complex spastic paraplegia Clinical group 521390 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=521390 Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome Malformation syndrome 447753 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447753 Autosomal dominant spastic paraplegia type 9A Disease 2819 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2819 Spastic paraplegia-facial-cutaneous lesions syndrome Malformation syndrome 2820 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2820 Spastic paraplegia-nephritis-deafness syndrome Clinical syndrome 2821 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2821 Spastic paraplegia-neuropathy-poikiloderma syndrome Disease 2826 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2826 Spastic paraplegia-precocious puberty syndrome Disease 100998 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100998 Autosomal dominant spastic paraplegia type 17 Disease 101009 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101009 Autosomal dominant spastic paraplegia type 29 Disease 171617 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171617 Autosomal dominant spastic paraplegia type 38 Disease 320365 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=320365 Autosomal dominant spastic paraplegia type 36 Disease 329475 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329475 Spastic paraplegia-Paget disease of bone syndrome Disease 615938 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=615938 Spastic paraparesis-cataracts-speech delay syndrome Clinical syndrome 100981 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100981 Autosomal recessive complex spastic paraplegia Clinical group 464282 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=464282 Spastic paraplegia-severe developmental delay-epilepsy syndrome Disease 459056 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=459056 Autosomal recessive spastic paraplegia type 75 Disease 477673 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=477673 Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome Disease 2818 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2818 Spastic paraplegia-glaucoma-intellectual disability syndrome Disease 100996 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100996 Kjellin syndrome Disease 101000 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101000 Autosomal recessive spastic paraplegia type 20 Disease 101003 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101003 Autosomal recessive spastic paraplegia type 23 Disease 101005 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101005 Autosomal recessive spastic paraplegia type 25 Disease 101006 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101006 Autosomal recessive spastic paraplegia type 26 Disease 139480 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139480 Autosomal recessive spastic paraplegia type 39 Disease 139578 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139578 Mutilating hereditary sensory neuropathy with spastic paraplegia Disease 171622 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171622 Autosomal recessive spastic paraplegia type 32 Disease 280763 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280763 Severe intellectual disability and progressive spastic paraplegia Disease 319199 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319199 Autosomal recessive spastic paraplegia type 53 Disease 320370 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=320370 Autosomal recessive spastic paraplegia type 43 Disease 320380 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=320380 Autosomal recessive spastic paraplegia type 54 Disease 320385 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=320385 Hereditary sensory and autonomic neuropathy due to TECPR2 mutation Disease 320391 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=320391 Autosomal recessive spastic paraplegia type 46 Disease 320401 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=320401 Autosomal recessive spastic paraplegia type 44 Disease 397946 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397946 Autosomal spastic paraplegia type 58 Disease 401780 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401780 Autosomal recessive spastic paraplegia type 61 Disease 401795 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401795 Autosomal recessive spastic paraplegia type 59 Disease 401800 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401800 Autosomal recessive spastic paraplegia type 60 Disease 401805 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401805 Autosomal recessive spastic paraplegia type 63 Disease 401810 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401810 Autosomal recessive spastic paraplegia type 64 Disease 401815 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401815 Autosomal recessive spastic paraplegia type 66 Disease 401820 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401820 Autosomal recessive spastic paraplegia type 67 Disease 401830 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401830 Autosomal recessive spastic paraplegia type 69 Disease 401835 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401835 Autosomal recessive spastic paraplegia type 70 Disease 431320 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=431320 Spastic paraplegia-optic atrophy-neuropathy and spastic paraplegia-optic atrophy-neuropathy-related disorder Clinical group 320406 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=320406 Spastic paraplegia-optic atrophy-neuropathy syndrome Disease 431329 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=431329 Autosomal recessive spastic paraplegia type 57 Disease 468661 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=468661 Autosomal recessive spastic paraplegia type 74 Disease 320375 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=320375 Autosomal recessive spastic paraplegia type 55 Disease 447760 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447760 Autosomal recessive spastic paraplegia type 9B Disease 506353 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=506353 Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction Disease 101001 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101001 Autosomal recessive spastic paraplegia type 21 Disease 171629 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171629 Autosomal recessive spastic paraplegia type 35 Disease 329308 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329308 Fatty acid hydroxylase-associated neurodegeneration Disease 496689 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=496689 Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome Disease 488594 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488594 Autosomal recessive spastic paraplegia type 76 Disease 631073 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=631073 Autosomal recessive spastic paraplegia type 82 Disease 631079 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=631079 Autosomal recessive spastic paraplegia type 84 Disease 513436 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=513436 Autosomal recessive spastic paraplegia type 78 Disease 631082 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=631082 Autosomal recessive spastic paraplegia type 85 Disease 631085 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=631085 Autosomal recessive spastic paraplegia type 86 Disease 320360 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=320360 MT-ATP6-related mitochondrial spastic paraplegia Disease 320335 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=320335 Pure or complex hereditary spastic paraplegia Clinical group 320342 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=320342 Pure or complex autosomal dominant spastic paraplegia Clinical group 101010 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101010 Autosomal spastic paraplegia type 30 Disease 209951 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209951 Autosomal spastic paraplegia type 18 Disease 100984 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100984 Autosomal dominant spastic paraplegia type 3 Disease 100985 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100985 Autosomal dominant spastic paraplegia type 4 Disease 100988 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100988 Autosomal dominant spastic paraplegia type 6 Disease 100991 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100991 Autosomal dominant spastic paraplegia type 10 Disease 100994 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100994 Autosomal dominant spastic paraplegia type 13 Disease 101011 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101011 Autosomal dominant spastic paraplegia type 31 Disease 447757 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447757 Autosomal dominant spastic paraplegia type 9B Disease 100989 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100989 Autosomal dominant spastic paraplegia type 8 Disease 99013 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99013 Spastic paraplegia type 7 Disease 320346 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=320346 Pure or complex autosomal recessive spastic paraplegia Clinical group 631088 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=631088 Autosomal recessive spastic paraplegia type 87 Disease 2429 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2429 Macrocephaly-spastic paraplegia-dysmorphism syndrome Malformation syndrome 2822 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2822 Autosomal recessive spastic paraplegia type 11 Disease 99013 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99013 Spastic paraplegia type 7 Disease 100986 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100986 Autosomal recessive spastic paraplegia type 5A Disease 100995 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100995 Autosomal recessive spastic paraplegia type 14 Disease 101010 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101010 Autosomal spastic paraplegia type 30 Disease 320396 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=320396 Autosomal recessive spastic paraplegia type 45 Disease 306511 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306511 Autosomal recessive spastic paraplegia type 48 Disease 320411 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=320411 Autosomal recessive spastic paraplegia type 56 Disease 466722 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466722 Autosomal recessive spastic paraplegia type 77 Disease 101007 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101007 Autosomal recessive spastic paraplegia type 27 Disease 320350 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=320350 Pure or complex X-linked spastic paraplegia Clinical group 59 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=59 Allan-Herndon-Dudley syndrome Disease 99015 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99015 Spastic paraplegia type 2 Disease 100997 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100997 X-linked spastic paraplegia type 16 Disease 702 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=702 Pelizaeus-Merzbacher disease Disease 280210 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280210 Pelizaeus-Merzbacher disease, connatal form Clinical subtype 280219 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280219 Pelizaeus-Merzbacher disease, classic form Clinical subtype 280224 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280224 Pelizaeus-Merzbacher disease, transitional form Clinical subtype 280229 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280229 Pelizaeus-Merzbacher disease in female carriers Clinical subtype 280234 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280234 Null syndrome Clinical subtype 43 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=43 X-linked adrenoleukodystrophy Disease 139396 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139396 X-linked cerebral adrenoleukodystrophy Clinical subtype 139399 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139399 Adrenomyeloneuropathy Clinical subtype 646 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=646 Niemann-Pick disease type C Disease 216972 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216972 Niemann-Pick disease type C, severe perinatal form Clinical subtype 216975 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216975 Niemann-Pick disease type C, severe early infantile neurologic onset Clinical subtype 216978 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216978 Niemann-Pick disease type C, late infantile neurologic onset Clinical subtype 216981 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216981 Niemann-Pick disease type C, juvenile neurologic onset Clinical subtype 216986 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216986 Niemann-Pick disease type C, adult neurologic onset Clinical subtype 726 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=726 Alpers-Huttenlocher syndrome Disease 2836 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2836 PEHO syndrome Disease 35689 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35689 Primary lateral sclerosis Disease 52368 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52368 Mohr-Tranebjaerg syndrome Disease 77299 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77299 Microphthalmia-brain atrophy syndrome Malformation syndrome 83629 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83629 Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome Disease 85162 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85162 Facial onset sensory and motor neuronopathy Disease 85334 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85334 X-linked neurodegenerative syndrome, Bertini type Disease 85336 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85336 X-linked neurodegenerative syndrome, Hamel type Disease 98534 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98534 Neurodegenerative disease with dementia Category 2289 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2289 Neuronal intranuclear inclusion disease Disease 54247 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=54247 Posterior cortical atrophy Disease 399 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=399 Huntington disease Disease 1020 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1020 Early-onset autosomal dominant Alzheimer disease Disease 90020 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90020 Parkinson-dementia complex of Guam Disease 95432 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95432 Primary progressive aphasia Clinical group 100069 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100069 Semantic dementia Disease 100070 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100070 Progressive non-fluent aphasia Disease 250831 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=250831 Logopenic progressive aphasia Disease 98535 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98535 Frontotemporal degeneration with dementia Clinical group 683 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=683 Progressive supranuclear palsy Disease 99750 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99750 Atypical progressive supranuclear palsy syndrome Clinical subtype 240085 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=240085 Progressive supranuclear palsy-predominant parkinsonism syndrome Clinical subtype 240094 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=240094 Progressive supranuclear palsy-pure akinesia with gait freezing syndrome Clinical subtype 240103 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=240103 Progressive supranuclear palsy-corticobasal syndrome Clinical subtype 240112 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=240112 Progressive supranuclear palsy-progressive non-fluent aphasia syndrome Clinical subtype 240071 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=240071 Classic progressive supranuclear palsy syndrome Clinical subtype 282 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=282 Frontotemporal dementia Clinical group 100069 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100069 Semantic dementia Disease 100070 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100070 Progressive non-fluent aphasia Disease 275864 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=275864 Behavioral variant of frontotemporal dementia Disease 52430 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52430 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia Disease 275872 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=275872 Frontotemporal dementia with motor neuron disease Disease 454887 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=454887 Corticobasal syndrome Disease 98538 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98538 Ataxia with dementia Category 98539 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98539 Early-onset ataxia with dementia Category 1172 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1172 Autosomal recessive cerebellar ataxia Clinical group 88644 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88644 Autosomal recessive ataxia, Beauce type Disease 98095 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98095 Autosomal recessive congenital cerebellar ataxia Category 1170 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1170 Autosomal recessive cerebelloparenchymal disorder type 3 Disease 1766 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1766 Dysequilibrium syndrome Disease 83472 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83472 CAMOS syndrome Malformation syndrome 94122 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94122 Cerebellar ataxia, Cayman type Disease 140874 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140874 Joubert syndrome and related disorders Category 2318 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2318 Joubert syndrome with oculorenal defect Malformation syndrome 475 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=475 Isolated Joubert syndrome Malformation syndrome 1454 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1454 Joubert syndrome with hepatic defect Disease 2754 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2754 Orofaciodigital syndrome type 6 Malformation syndrome 220493 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=220493 Joubert syndrome with ocular defect Malformation syndrome 220497 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=220497 Joubert syndrome with renal defect Malformation syndrome 397715 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397715 Joubert syndrome with Jeune asphyxiating thoracic dystrophy Malformation syndrome 453521 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=453521 Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency Disease 512260 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=512260 Congenital cerebellar ataxia due to RNU12 mutation Disease 98096 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98096 Autosomal recessive metabolic cerebellar ataxia Category 642965 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=642965 Autosomal recessive ataxia due to PEX2 deficiency Disease 96 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96 Ataxia with vitamin E deficiency Disease 14 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=14 Abetalipoproteinemia Disease 773 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=773 Adult Refsum disease Disease 909 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=909 Cerebrotendinous xanthomatosis Disease 772 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=772 Infantile Refsum disease Disease 94125 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94125 Recessive mitochondrial ataxia syndrome Disease 247815 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247815 Autosomal recessive ataxia due to PEX10 deficiency Disease 352641 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352641 Autosomal recessive cerebellar ataxia with late-onset spasticity Disease 363429 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363429 Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome Disease 324262 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324262 Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency Clinical subtype 363432 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363432 Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency Clinical subtype 95433 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95433 Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome Disease 642954 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=642954 Autosomal recessive ataxia due to PEX16 deficiency Disease 98097 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98097 Autosomal recessive cerebellar ataxia due to a DNA repair defect Category 100 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100 Ataxia-telangiectasia Disease 1168 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1168 Ataxia-oculomotor apraxia type 1 Disease 64753 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=64753 Spinocerebellar ataxia with axonal neuropathy type 2 Disease 94124 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94124 Spinocerebellar ataxia with axonal neuropathy type 1 Disease 220295 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=220295 Xeroderma pigmentosum-Cockayne syndrome complex Disease 251347 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251347 Ataxia-telangiectasia-like disorder Disease 910 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=910 Xeroderma pigmentosum Disease 420741 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=420741 RIDDLE syndrome Malformation syndrome 98098 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98098 Autosomal recessive degenerative and progressive cerebellar ataxia Category 95 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95 Friedreich ataxia Disease 1177 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1177 Early-onset cerebellar ataxia with retained tendon reflexes Disease 1186 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1186 Infantile-onset spinocerebellar ataxia Disease 559 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=559 Marinesco-Sjögren syndrome Disease 48431 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=48431 Congenital cataracts-facial dysmorphism-neuropathy syndrome Malformation syndrome 88628 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88628 Posterior column ataxia-retinitis pigmentosa syndrome Disease 694922 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=694922 Childhood-onset stress-induced neurodegenerative ataxia-seizure syndrome Disease 496756 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=496756 Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome Disease 98099 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98099 Autosomal recessive syndromic cerebellar ataxia Category 95434 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95434 Autosomal recessive cerebellar ataxia-movement disorder syndrome Disease 284271 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284271 Autosomal recessive cerebellar ataxia-psychomotor delay syndrome Disease 459033 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=459033 Ataxia-oculomotor apraxia type 4 Disease 2074 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2074 Gemignani syndrome Malformation syndrome 504476 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=504476 Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome Disease 466794 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466794 Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome Disease 139485 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139485 Autosomal recessive ataxia due to ubiquinone deficiency Disease 284289 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284289 Adult-onset autosomal recessive cerebellar ataxia Disease 284324 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284324 Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia Disease 284332 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284332 Infantile-onset autosomal recessive nonprogressive cerebellar ataxia Disease 352403 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352403 Spectrin-associated autosomal recessive cerebellar ataxia Disease 404481 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404481 Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome Clinical group 284282 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284282 Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency Disease 404493 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404493 Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency Disease 404499 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404499 Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency Disease 412057 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=412057 Autosomal recessive cerebellar ataxia due to STUB1 deficiency Disease 98540 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98540 Late-onset ataxia with dementia Category 99 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99 Autosomal dominant cerebellar ataxia Category 94145 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94145 Autosomal dominant cerebellar ataxia type I Clinical group 98772 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98772 Spinocerebellar ataxia type 19/22 Disease 98773 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98773 Spinocerebellar ataxia type 21 Disease 101108 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101108 Spinocerebellar ataxia type 23 Disease 101109 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101109 Spinocerebellar ataxia type 28 Disease 101110 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101110 Spinocerebellar ataxia type 20 Disease 101111 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101111 Spinocerebellar ataxia type 25 Disease 208513 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=208513 Spinocerebellar ataxia type 29 Disease 276183 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276183 Spinocerebellar ataxia type 32 Disease 276193 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276193 Spinocerebellar ataxia type 35 Disease 276198 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276198 Spinocerebellar ataxia type 36 Disease 314404 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314404 Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome Disease 314647 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314647 Non-progressive cerebellar ataxia with intellectual disability Disease 363710 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363710 Spinocerebellar ataxia type 37 Disease 423275 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423275 Spinocerebellar ataxia type 40 Disease 1955 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1955 Spinocerebellar ataxia type 34 Disease 1171 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1171 Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome Disease 98755 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98755 Spinocerebellar ataxia type 1 Disease 98756 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98756 Spinocerebellar ataxia type 2 Disease 98757 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98757 Spinocerebellar ataxia type 3 Disease 276238 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276238 Machado-Joseph disease type 1 Clinical subtype 276241 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276241 Machado-Joseph disease type 2 Clinical subtype 276244 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276244 Machado-Joseph disease type 3 Clinical subtype 98759 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98759 Spinocerebellar ataxia type 17 Disease 98760 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98760 Spinocerebellar ataxia type 8 Disease 98762 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98762 Spinocerebellar ataxia type 12 Disease 98763 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98763 Spinocerebellar ataxia type 14 Disease 98764 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98764 Spinocerebellar ataxia type 27A Disease 98765 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98765 Spinocerebellar ataxia type 4 Disease 98768 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98768 Spinocerebellar ataxia type 13 Disease 98769 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98769 Spinocerebellar ataxia type 15/16 Disease 98771 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98771 Spinocerebellar ataxia type 18 Disease 497764 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=497764 Spinocerebellar ataxia type 43 Disease 589515 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589515 PUM1-associated developmental disability-ataxia-seizure syndrome Disease 589522 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589522 Spinocerebellar ataxia type 46 Disease 631103 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=631103 Spinocerebellar ataxia type 48 Disease 675216 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=675216 Spinocerebellar ataxia type 27B Disease 631106 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=631106 Spinocerebellar ataxia type 49 Disease 94148 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94148 Autosomal dominant cerebellar ataxia type III Clinical group 589527 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589527 Spinocerebellar ataxia type 45 Disease 631095 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=631095 Spinocerebellar ataxia type 44 Disease 98758 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98758 Spinocerebellar ataxia type 6 Disease 98766 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98766 Spinocerebellar ataxia type 5 Disease 98767 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98767 Spinocerebellar ataxia type 11 Disease 101112 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101112 Spinocerebellar ataxia type 26 Disease 211017 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=211017 Spinocerebellar ataxia type 30 Disease 217012 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217012 Spinocerebellar ataxia type 31 Disease 423296 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423296 Spinocerebellar ataxia type 38 Disease 458798 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=458798 Spinocerebellar ataxia type 41 Disease 458803 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=458803 Spinocerebellar ataxia type 42 Disease 94149 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94149 Autosomal dominant cerebellar ataxia type IV Clinical group 101 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101 Dentatorubral pallidoluysian atrophy Disease 98761 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98761 Spinocerebellar ataxia type 10 Disease 208508 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=208508 Autosomal dominant cerebellar ataxia type II Clinical group 94147 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94147 Spinocerebellar ataxia type 7 Disease 642747 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=642747 PUM1-related cerebellar ataxia Disease 248111 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=248111 Juvenile Huntington disease Disease 401901 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401901 Huntington disease-like syndrome due to C9ORF72 expansions Disease 412066 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=412066 PRKAR1B-related neurodegenerative dementia with intermediate filaments Disease 439254 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=439254 ITM2B amyloidosis Disease 97345 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97345 ABri amyloidosis Clinical subtype 97346 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97346 ADan amyloidosis Clinical subtype 2770 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2770 Nasu-Hakola disease Malformation syndrome 56970 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=56970 Human prion disease Category 280400 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280400 Inherited human prion disease Category 356 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=356 Gerstmann-Straussler-Scheinker syndrome Disease 466 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466 Fatal familial insomnia Disease 157941 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157941 Huntington disease-like 1 Disease 280397 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280397 Familial Alzheimer-like prion disease Disease 282166 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=282166 Inherited Creutzfeldt-Jakob disease Disease 397606 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397606 PrP systemic amyloidosis Disease 576356 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=576356 Sporadic human prion disease Category 204 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=204 Sporadic Creutzfeldt-Jakob disease Disease 454742 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=454742 Variably protease-sensitive prionopathy Disease 586130 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=586130 Sporadic fatal insomnia Disease 576360 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=576360 Acquired human prion disease Category 454745 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=454745 Kuru Disease 454700 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=454700 Acquired Creutzfeldt-Jakob disease Clinical group 576370 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=576370 Variant Creutzfeldt-Jakob disease Disease 576379 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=576379 Iatrogenic Creutzfeldt-Jakob disease Disease 385 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=385 Neurodegeneration with brain iron accumulation Clinical group 3464 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3464 Woodhouse-Sakati syndrome Disease 48818 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=48818 Aceruloplasminemia Disease 157846 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157846 Neuroferritinopathy Disease 157850 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157850 Pantothenate kinase-associated neurodegeneration Disease 216866 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216866 Classic pantothenate kinase-associated neurodegeneration Clinical subtype 216873 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216873 Atypical pantothenate kinase-associated neurodegeneration Clinical subtype 289560 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289560 Mitochondrial membrane protein-associated neurodegeneration Disease 306674 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306674 Kufor-Rakeb syndrome Disease 329284 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329284 Beta-propeller protein-associated neurodegeneration Disease 329303 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329303 PLA2G6-associated neurodegeneration Clinical group 35069 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35069 Infantile neuroaxonal dystrophy Disease 199351 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199351 Adult-onset dystonia-parkinsonism Disease 329308 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329308 Fatty acid hydroxylase-associated neurodegeneration Disease 397725 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397725 COASY protein-associated neurodegeneration Disease 496756 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=496756 Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome Disease 411602 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=411602 Hereditary late-onset Parkinson disease Disease 456318 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=456318 Hereditary sensory neuropathy-deafness-dementia syndrome Disease 313808 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=313808 Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia Disease 263440 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263440 Neuroacanthocytosis Clinical group 2388 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2388 Choreoacanthocytosis Disease 59306 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=59306 McLeod neuroacanthocytosis syndrome Disease 98934 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98934 Huntington disease-like 2 Disease 157850 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157850 Pantothenate kinase-associated neurodegeneration Disease 216866 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216866 Classic pantothenate kinase-associated neurodegeneration Clinical subtype 216873 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216873 Atypical pantothenate kinase-associated neurodegeneration Clinical subtype 217382 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217382 Neurodegenerative syndrome due to cerebral folate transport deficiency Disease 221074 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=221074 Marchiafava-Bignami disease Disease 309152 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309152 GM2 gangliosidosis Clinical group 796 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=796 Sandhoff disease Disease 309155 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309155 Sandhoff disease, infantile form Clinical subtype 309162 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309162 Sandhoff disease, juvenile form Clinical subtype 309169 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309169 Sandhoff disease, adult form Clinical subtype 845 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=845 Tay-Sachs disease Disease 309178 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309178 Tay-Sachs disease, infantile form Clinical subtype 309185 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309185 Tay-Sachs disease, juvenile form Clinical subtype 309192 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309192 Tay-Sachs disease, adult form Clinical subtype 309246 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309246 GM2 gangliosidosis, AB variant Disease 313850 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=313850 Infantile cerebellar-retinal degeneration Disease 314566 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314566 Primary progressive apraxia of speech Disease 352654 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352654 Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome Disease 352723 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352723 Attenuated Chédiak-Higashi syndrome Disease 357043 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=357043 Amyotrophic lateral sclerosis type 4 Disease 363400 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363400 Progressive encephalopathy-severe neurodegeneration-lipodystrophy syndrome Disease 363969 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363969 Autosomal recessive cerebral atrophy Disease 371364 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=371364 Hypotonia-speech impairment-severe cognitive delay syndrome Disease 700333 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700333 Hypotonia-speech impairment-severe cognitive delay syndrome due to UNC80 deficiency Clinical subtype 700336 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700336 Hypotonia-speech impairment-severe cognitive delay syndrome due to NALCN deficiency Clinical subtype 391343 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391343 Fatal post-viral neurodegenerative disorder Disease 397922 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397922 Ferro-cerebro-cutaneous syndrome Disease 438134 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=438134 PCNA-related progressive neurodegenerative photosensitivity syndrome Disease 505242 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=505242 Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome Disease 508093 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=508093 MEPAN syndrome Malformation syndrome 555402 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=555402 NAD(P)HX dehydratase deficiency Disease 555407 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=555407 NAD(P)HX epimerase deficiency Disease 457406 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457406 Multiple mitochondrial dysfunctions syndrome type 4 Disease 457205 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457205 Infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome Disease 457375 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457375 ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement Disease 497906 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=497906 Childhood-onset basal ganglia degeneration syndrome Disease 500180 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=500180 Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder Disease 1576 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1576 Infantile bilateral striatal necrosis Clinical group 225147 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=225147 Sporadic infantile bilateral striatal necrosis Disease 225154 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=225154 Familial infantile bilateral striatal necrosis Disease 157946 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157946 Huntington disease-like 3 Disease 102 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=102 Multiple system atrophy Disease 98933 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98933 Multiple system atrophy, parkinsonian type Clinical subtype 227510 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=227510 Multiple system atrophy, cerebellar type Clinical subtype 454706 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=454706 Progressive muscular atrophy Disease 401768 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401768 Proximal myopathy with extrapyramidal signs Disease 209978 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209978 Alternating hemiplegia Clinical group 2131 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2131 Alternating hemiplegia of childhood Disease 209973 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209973 Benign nocturnal alternating hemiplegia of childhood Disease 210141 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=210141 Inherited congenital spastic tetraplegia Disease 211047 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=211047 Specific learning disability Clinical group 211053 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=211053 Specific language disorder Clinical group 1799 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1799 Familial developmental dysphasia Clinical syndrome 209908 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209908 Isolated childhood apraxia of speech Disease 436151 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=436151 Intellectual disability-expressive aphasia-facial dysmorphism syndrome Malformation syndrome 221117 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=221117 Gerstmann syndrome Disease 238624 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238624 Idiopathic intracranial hypertension Disease 252190 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=252190 Inherited nervous system cancer-predisposing syndrome Category 892 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=892 Von Hippel-Lindau disease Disease 100 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100 Ataxia-telangiectasia Disease 783 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=783 Rubinstein-Taybi syndrome Malformation syndrome 353277 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=353277 Rubinstein-Taybi syndrome due to CREBBP mutations Etiological subtype 353281 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=353281 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion Etiological subtype 353284 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency Etiological subtype 524 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=524 Li-Fraumeni syndrome Disease 377 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=377 Gorlin syndrome Malformation syndrome 805 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=805 Tuberous sclerosis complex Disease 2481 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2481 Neurocutaneous melanocytosis Disease 251347 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251347 Ataxia-telangiectasia-like disorder Disease 252202 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=252202 Constitutional mismatch repair deficiency syndrome Disease 252206 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=252206 Melanoma and neural system tumor syndrome Disease 443101 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443101 Hypothalamic adipsic hypernatraemia syndrome Disease 634518 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=634518 Neurofibromatosis/schwannomatosis Category 93921 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93921 Full schwannomatosis Disease 634461 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=634461 Mosaic neurofibromatosis type 1 Disease 634475 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=634475 Mosaic NF2-related schwannomatosis Disease 634492 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=634492 Mosaic schwannomatosis Disease 636 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=636 Neurofibromatosis type 1 Disease 97685 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97685 17q11 microdeletion syndrome Clinical subtype 363700 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363700 Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion Etiological subtype 637 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=637 Full NF2-related schwannomatosis Disease 276174 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276174 Idiopathic recurrent stupor Disease 3465 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3465 Worster-Drought syndrome Disease 29822 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=29822 Spontaneous periodic hypothermia Disease 36388 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=36388 Paraneoplastic neurologic syndrome Category 1183 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1183 Opsoclonus-myoclonus syndrome Disease 43393 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=43393 Lambert-Eaton myasthenic syndrome Disease 71505 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71505 Cancer-associated retinopathy Disease 208999 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=208999 Paraneoplastic sensory ganglionopathy Disease 624190 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=624190 Paraneoplastic isolated brainstem encephalitis Disease 623626 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=623626 Paraneoplastic cerebellar degeneration Disease 624166 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=624166 Non-specific autoimmune supratentorial encephalitis with characteristic antibodies Disease 624178 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=624178 Non-specific autoimmune supratentorial encephalitis without characteristic antibodies Disease 623615 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=623615 Autoimmune limbic encephalitis Disease 68354 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=68354 Rare sleep disorder Category 2085 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2085 Glaucoma-sleep apnea syndrome Disease 33208 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33208 Idiopathic hypersomnia Disease 33543 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33543 Kleine-Levin syndrome Disease 73267 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=73267 Non-24-hour sleep-wake syndrome Disease 164736 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=164736 Familial advanced sleep-phase syndrome Disease 314404 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314404 Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome Disease 420789 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=420789 Autoimmune encephalopathy with parasomnia and obstructive sleep apnea Disease 619284 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=619284 Narcolepsy Clinical group 2073 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2073 Narcolepsy type 1 Disease 83465 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83465 Narcolepsy type 2 Disease 600663 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=600663 NRXN1-related severe neurodevelopmental disorder-motor stereotypies-chronic constipation-sleep-wake cycle disturbance Malformation syndrome 68356 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=68356 Leukodystrophy Category 83629 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83629 Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome Disease 457406 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457406 Multiple mitochondrial dysfunctions syndrome type 4 Disease 1659 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1659 Dermatoleukodystrophy Disease 495844 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=495844 C11ORF73-related autosomal recessive hypomyelinating leukodystrophy Disease 466934 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466934 VPS11-related autosomal recessive hypomyelinating leukodystrophy Disease 58 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=58 Alexander disease Disease 363717 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363717 Alexander disease type I Clinical subtype 363722 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363722 Alexander disease type II Clinical subtype 141 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141 Canavan disease Disease 314911 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314911 Severe Canavan disease Clinical subtype 314918 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314918 Mild Canavan disease Clinical subtype 487 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=487 Krabbe disease Disease 206443 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206443 Late-infantile/juvenile Krabbe disease Clinical subtype 206448 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206448 Adult Krabbe disease Clinical subtype 206436 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206436 Infantile Krabbe disease Clinical subtype 512 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=512 Metachromatic leukodystrophy Disease 309256 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309256 Metachromatic leukodystrophy, late infantile form Clinical subtype 309263 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309263 Metachromatic leukodystrophy, juvenile form Clinical subtype 309271 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309271 Metachromatic leukodystrophy, adult form Clinical subtype 773 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=773 Adult Refsum disease Disease 909 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=909 Cerebrotendinous xanthomatosis Disease 702 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=702 Pelizaeus-Merzbacher disease Disease 280210 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280210 Pelizaeus-Merzbacher disease, connatal form Clinical subtype 280219 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280219 Pelizaeus-Merzbacher disease, classic form Clinical subtype 280224 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280224 Pelizaeus-Merzbacher disease, transitional form Clinical subtype 280229 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280229 Pelizaeus-Merzbacher disease in female carriers Clinical subtype 280234 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280234 Null syndrome Clinical subtype 43 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=43 X-linked adrenoleukodystrophy Disease 139396 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139396 X-linked cerebral adrenoleukodystrophy Clinical subtype 139399 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139399 Adrenomyeloneuropathy Clinical subtype 51 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=51 Aicardi-Goutières syndrome Disease 2770 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2770 Nasu-Hakola disease Malformation syndrome 135 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=135 CACH syndrome Disease 99853 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99853 Ovarioleukodystrophy Clinical subtype 99854 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99854 Cree leukoencephalopathy Clinical subtype 157713 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157713 Congenital or early infantile CACH syndrome Clinical subtype 157716 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157716 Late infantile CACH syndrome Clinical subtype 157719 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157719 Juvenile or adult CACH syndrome Clinical subtype 2478 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2478 Megalencephalic leukoencephalopathy with subcortical cysts Disease 79189 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79189 Peroxisome biogenesis disorder Clinical group 912 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=912 Zellweger syndrome Disease 44 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=44 Neonatal adrenoleukodystrophy Disease 772 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=772 Infantile Refsum disease Disease 85136 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85136 Cystic leukoencephalopathy without megalencephaly Disease 85163 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85163 Hypomyelination-congenital cataract syndrome Malformation syndrome 99015 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99015 Spastic paraplegia type 2 Disease 99027 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99027 Adult-onset autosomal dominant leukodystrophy Disease 99852 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99852 Ravine syndrome Disease 137898 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137898 Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome Disease 139441 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139441 Hypomyelination with atrophy of basal ganglia and cerebellum Disease 139444 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139444 Leukoencephalopathy with bilateral anterior temporal lobe cysts Disease 139447 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139447 Progressive cavitating leukoencephalopathy Disease 163684 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163684 Leukoencephalopathy-dystonia-motor neuropathy syndrome Disease 163746 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163746 Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease Disease 280270 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280270 Pelizaeus-Merzbacher-like disease Disease 280282 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280282 Pelizaeus-Merzbacher-like disease due to GJC2 mutation Clinical subtype 280288 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280288 Pelizaeus-Merzbacher-like disease due to HSPD1 mutation Clinical subtype 280293 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280293 Pelizaeus-Merzbacher-like disease due to AIMP1 mutation Clinical subtype 289494 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289494 4H leukodystrophy Disease 77295 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77295 Odontoleukodystrophy Clinical subtype 88637 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88637 Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome Clinical subtype 137639 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137639 Hypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination syndrome Clinical subtype 447896 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447896 Tremor-ataxia-central hypomyelination syndrome Clinical subtype 447893 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447893 Hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome Clinical subtype 313808 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=313808 Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia Disease 314051 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314051 Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome Disease 363412 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363412 Hypomyelination with brain stem and spinal cord involvement and leg spasticity Disease 363540 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363540 Leukoencephalopathy with mild cerebellar ataxia and white matter edema Disease 369942 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369942 CADDS Disease 431361 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=431361 Progressive encephalopathy with leukodystrophy due to DECR deficiency Disease 436271 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=436271 Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy Disease 438114 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=438114 RARS-related autosomal recessive hypomyelinating leukodystrophy Disease 440706 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=440706 Ribose-5-P isomerase deficiency Disease 597874 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=597874 MTHFS-related developmental delay-microcephaly-short stature-epilepsy syndrome Disease 556985 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=556985 Early-onset calcifying leukoencephalopathy-skeletal dysplasia Disease 502444 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=502444 Alkaline ceramidase 3 deficiency Disease 527497 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=527497 NKX6-2-related autosomal recessive hypomyelinating leukodystrophy Disease 611207 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=611207 Spondyloepiphyseal dysplasia-sensorineural hearing loss-intellectual disability-Leber congenital amaurosis syndrome Clinical syndrome 599376 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=599376 Hypomyelination of early myelinating structures Disease 662229 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=662229 Episodic memory defect leukoencephalopathy Disease 652532 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=652532 Adult-onset progressive leukoencephalopathy-early-onset deafness Disease 68381 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=68381 Neuromuscular disease Category 71864 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71864 Muscular channelopathy Category 98750 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98750 Autoimmune neurological channelopathy Category 43393 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=43393 Lambert-Eaton myasthenic syndrome Disease 83467 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83467 Morvan syndrome Disease 84142 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=84142 Isaacs syndrome Disease 581271 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=581271 Cramp-fasciculation syndrome Disease 98737 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98737 Genetic neurological muscular channelopathy Category 98738 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98738 Neurological muscular channelopathy due to a genetic sodium channel defect Category 684 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=684 Paramyotonia congenita of Von Eulenburg Disease 681 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=681 Hypokalemic periodic paralysis Disease 682 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=682 Hyperkalemic periodic paralysis Disease 612 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=612 Potassium-aggravated myotonia Clinical group 99734 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99734 Myotonia fluctuans Disease 99735 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99735 Myotonia permanens Disease 99736 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99736 Acetazolamide-responsive myotonia Disease 98913 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98913 Postsynaptic congenital myasthenic syndrome Etiological subtype 716742 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=716742 Congenital myasthenic syndrome with kinetic defect Etiological subtype 716758 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=716758 Fast-channel congenital myasthenic syndrome Etiological subtype 716765 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=716765 Slow-channel congenital myasthenic syndrome Etiological subtype 716772 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=716772 Congenital myasthenic syndrome with kinetic defect due to reduced ion channel conductance Etiological subtype 716816 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=716816 Congenital myasthenic syndrome with primary acetylcholine receptor deficiency Etiological subtype 716881 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=716881 Congenital myasthenic syndrome due to a sodium channel 1.4 defect Etiological subtype 716825 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=716825 Congenital myasthenic syndrome due to defects in endplate development and maintenance Etiological subtype 562528 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=562528 Congenital limbs-face contractures-hypotonia-developmental delay syndrome Malformation syndrome 1146 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1146 Distal arthrogryposis type 1 Malformation syndrome 2053 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2053 Freeman-Sheldon syndrome Malformation syndrome 371364 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=371364 Hypotonia-speech impairment-severe cognitive delay syndrome Disease 700333 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700333 Hypotonia-speech impairment-severe cognitive delay syndrome due to UNC80 deficiency Clinical subtype 700336 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700336 Hypotonia-speech impairment-severe cognitive delay syndrome due to NALCN deficiency Clinical subtype 1147 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1147 Sheldon-Hall syndrome Malformation syndrome 98739 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98739 Neurological muscular channelopathy due to a genetic chloride channel defect Category 614 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=614 Thomsen and Becker disease Disease 98740 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98740 Neurological muscular channelopathy due to a genetic calcium channel defect Category 681 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=681 Hypokalemic periodic paralysis Disease 397755 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397755 Periodic paralysis with transient compartment-like syndrome Disease 98741 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98741 Neurological muscular channelopathy due to a genetic potassium channel defect Category 681 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=681 Hypokalemic periodic paralysis Disease 37553 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=37553 Andersen-Tawil syndrome Disease 36899 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=36899 Myoclonus-dystonia syndrome Disease 972 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=972 Hereditary continuous muscle fiber activity Disease 98742 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98742 Neurological muscular channelopathy due to a genetic ryanodine receptor defect Category 597 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=597 Central core disease Disease 423 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423 Malignant hyperthermia of anesthesia Disease 169186 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169186 Autosomal recessive centronuclear myopathy Disease 324581 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324581 Benign Samaritan congenital myopathy Disease 98905 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98905 Congenital multicore myopathy with external ophthalmoplegia Clinical subtype 424107 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=424107 Congenital myopathy with myasthenic-like onset Disease 99741 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99741 King-Denborough syndrome Malformation syndrome 178145 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178145 Moderate multiminicore disease with hand involvement Clinical subtype 98472 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98472 Skeletal muscle disease Category 206634 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206634 Genetic skeletal muscle disease Category 2674 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2674 Cyprus facial-neuromusculoskeletal syndrome Malformation syndrome 3292 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3292 Tel Hashomer camptodactyly syndrome Malformation syndrome 3454 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3454 Wieacker-Wolff syndrome Malformation syndrome 599 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=599 Distal myopathy Category 206650 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206650 Autosomal dominant distal myopathy Category 98897 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98897 Oculopharyngodistal myopathy Disease 603 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=603 Distal myopathy, Welander type Disease 609 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=609 Tibial muscular dystrophy Disease 600 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=600 Vocal cord and pharyngeal distal myopathy Disease 59135 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=59135 Laing distal myopathy Disease 63273 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=63273 FLNC-related handgrip and calf weakness-distal myopathy Disease 98909 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98909 Desminopathy Disease 98911 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98911 Distal myotilinopathy Disease 98912 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98912 Late-onset distal myopathy, Markesbery-Griggs type Disease 329478 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329478 Adult-onset distal myopathy due to VCP mutation Disease 397744 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397744 MYH14-related peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome Disease 399058 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=399058 Alpha-B crystallin-related late-onset myopathy Disease 399081 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=399081 KLHL9-related early-onset distal myopathy Disease 399086 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=399086 HNRNPA1-related adult-onset distal myopathy Disease 696063 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=696063 PLIN4-related distal myopathy Disease 700154 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700154 TARDBP-related predominantly upper-limb distal myopathy Disease 700170 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700170 DNAJB4-related distal myopathy Disease 700188 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700188 Calf-predominant weakness-gastrocnemius medialis atrophy-distal myopathy Disease 488650 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488650 Distal myopathy, Tateyama type Disease 206653 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206653 Autosomal recessive distal myopathy Category 602 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=602 GNE myopathy Disease 45448 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=45448 Miyoshi myopathy Disease 178400 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178400 Distal myopathy with anterior tibial onset Disease 399096 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=399096 Distal anoctaminopathy Disease 399103 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=399103 Autosomal recessive distal nebulin myopathy Disease 98897 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98897 Oculopharyngodistal myopathy Disease 689021 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=689021 Asymptomatic hyperCKemia-myalgia-rhabdomyolysis syndrome Disease 482601 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=482601 Adenylosuccinate synthetase-like 1-related distal myopathy Disease 700143 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700143 X-linked distal myopathy Category 700163 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700163 SMPX-related distal myopathy Disease 88635 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88635 Vacuolar myopathy with sarcoplasmic reticulum protein aggregates Disease 98473 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98473 Muscular dystrophy Category 97242 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97242 Congenital muscular dystrophy Category 258 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=258 Laminin subunit alpha 2-related congenital muscular dystrophy Malformation syndrome 1875 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1875 Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome Disease 34520 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=34520 Congenital muscular dystrophy with integrin alpha-7 deficiency Disease 97244 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97244 Rigid spine syndrome Disease 98893 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98893 Congenital muscular dystrophy type 1B Disease 157973 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157973 Congenital muscular dystrophy due to LMNA mutation Disease 199329 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199329 Congenital myopathy, Paradas type Disease 280671 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280671 Megaconial congenital muscular dystrophy Disease 319332 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319332 Autosomal recessive myogenic arthrogryposis multiplex congenita Disease 370953 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370953 Congenital muscular dystrophy due to dystroglycanopathy Category 263494 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263494 DPM3-CDG Disease 329178 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329178 Congenital muscular dystrophy with intellectual disability and severe epilepsy Disease 352687 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352687 Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies Clinical group 272 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=272 Congenital muscular dystrophy, Fukuyama type Malformation syndrome 899 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=899 Walker-Warburg syndrome Disease 588 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=588 Muscle-eye-brain disease Malformation syndrome 370997 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370997 Muscle-eye-brain disease with bilateral multicystic leucodystrophy Disease 370959 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370959 Congenital muscular dystrophy with cerebellar involvement Disease 370968 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370968 Congenital muscular dystrophy with intellectual disability Disease 370980 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370980 Congenital muscular dystrophy without intellectual disability Disease 371007 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=371007 Congenital muscular dystrophy with hyperlaxity Disease 486815 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=486815 Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome Disease 646098 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=646098 Collagen VI-related congenital muscular dystrophy Clinical group 610 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=610 Bethlem muscular dystrophy Disease 75840 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75840 Ullrich congenital muscular dystrophy Disease 646113 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=646113 Intermediate collagen VI-related muscular dystrophy Disease 662184 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=662184 Congenital muscular dystrophy-cataract-intellectual disability syndrome Disease 536516 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=536516 Myopathic Ehlers-Danlos syndrome Disease 206644 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206644 Progressive muscular dystrophy Category 257 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=257 Epidermolysis bullosa simplex with muscular dystrophy Disease 262 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262 Duchenne and Becker muscular dystrophy Clinical group 98895 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98895 Becker muscular dystrophy Disease 98896 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98896 Duchenne muscular dystrophy Disease 206546 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206546 Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers Disease 261 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261 Emery-Dreifuss muscular dystrophy Disease 98853 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98853 Autosomal dominant Emery-Dreifuss muscular dystrophy Etiological subtype 98855 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98855 Autosomal recessive Emery-Dreifuss muscular dystrophy Etiological subtype 98863 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98863 X-linked Emery-Dreifuss muscular dystrophy Etiological subtype 269 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=269 Facioscapulohumeral dystrophy Disease 800 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=800 Schwartz-Jampel syndrome Disease 610 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=610 Bethlem muscular dystrophy Disease 270 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=270 Oculopharyngeal muscular dystrophy Disease 263 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263 Limb-girdle muscular dystrophy Clinical group 102014 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=102014 Autosomal dominant limb-girdle muscular dystrophy Category 565909 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=565909 Calpain-3-related limb-girdle muscular dystrophy D4 Disease 34516 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=34516 DNAJB6-related limb-girdle muscular dystrophy D1 Disease 55595 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=55595 TNP03-related limb-girdle muscular dystrophy D2 Disease 55596 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=55596 HNRNPDL-related limb-girdle muscular dystrophy D3 Disease 102015 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=102015 Autosomal recessive limb-girdle muscular dystrophy Category 565837 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=565837 Laminin subunit alpha 2-related limb-girdle muscular dystrophy R23 Disease 480682 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480682 POGLUT1-related limb-girdle muscular dystrophy R21 Disease 62 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=62 Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3 Disease 267 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=267 Calpain-3-related limb-girdle muscular dystrophy R1 Disease 1878 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1878 TRIM32-related limb-girdle muscular dystrophy R8 Disease 119 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=119 Beta-sarcoglycan-related limb-girdle muscular dystrophy R4 Disease 353 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=353 Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5 Disease 219 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=219 Delta-sarcoglycan-related limb-girdle muscular dystrophy R6 Disease 268 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268 Dysferlin-related limb-girdle muscular dystrophy R2 Disease 34514 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=34514 Telethonin-related limb-girdle muscular dystrophy R7 Disease 34515 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=34515 FKRP-related limb-girdle muscular dystrophy R9 Disease 86812 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86812 POMT1-related limb-girdle muscular dystrophy R11 Disease 140922 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140922 Titin-related limb-girdle muscular dystrophy R10 Disease 206549 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206549 Anoctamin-5-related limb-girdle muscular dystrophy R12 Disease 206554 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206554 Fukutin-related limb-girdle muscular dystrophy R13 Disease 206559 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206559 POMT2-related limb-girdle muscular dystrophy R14 Disease 206564 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206564 POMGNT1-related limb-girdle muscular dystrophy R15 Disease 254361 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254361 Plectin-related limb-girdle muscular dystrophy R17 Disease 280333 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280333 Alpha-dystroglycan-related limb-girdle muscular dystrophy R16 Disease 352479 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352479 ISPD-related limb-girdle muscular dystrophy R20 Disease 363623 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363623 GMPPB-related limb-girdle muscular dystrophy R19 Disease 369840 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369840 TRAPPC11-related limb-girdle muscular dystrophy R18 Disease 424261 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=424261 TOR1AIP1-related limb-girdle muscular dystrophy Disease 445110 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=445110 Limb-girdle muscular dystrophy due to POMK deficiency Disease 476084 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=476084 BVES-related limb-girdle muscular dystrophy Disease 653725 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=653725 Autosomal recessive limb-girdle muscular dystrophy, type 28 Disease 565899 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=565899 POMGNT2-related limb-girdle muscular dystrophy R24 Disease 25980 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=25980 X-linked myopathy with excessive autophagy Disease 45358 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=45358 Congenital fibrosis of extraocular muscles Disease 98897 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98897 Oculopharyngodistal myopathy Disease 178461 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178461 X-linked myopathy with postural muscle atrophy Disease 178464 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178464 Hereditary myopathy with early respiratory failure Disease 206647 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206647 Myotonic dystrophy Clinical group 273 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=273 Steinert myotonic dystrophy Disease 589824 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589824 Childhood-onset Steinert myotonic dystrophy Clinical subtype 589827 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589827 Juvenile-onset Steinert myotonic dystrophy Clinical subtype 589830 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589830 Adult-onset Steinert myotonic dystrophy Clinical subtype 589833 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589833 Late-onset Steinert myotonic dystrophy Clinical subtype 589821 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589821 Congenital-onset Steinert myotonic dystrophy Clinical subtype 606 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=606 Proximal myotonic myopathy Disease 431263 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=431263 Late-onset scapuloperoneal muscular dystrophy with hyaline bodies Clinical group 431272 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=431272 X-linked scapuloperoneal muscular dystrophy Disease 466921 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466921 Childhood-onset progressive contractures-limb-girdle weakness-muscle dystrophy syndrome Disease 447977 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447977 Progressive scapulohumeroperoneal distal myopathy Disease 206656 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206656 Non-dystrophic myopathy Category 521305 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=521305 Proximal myopathy with focal depletion of mitochondria Disease 593 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=593 Myofibrillar myopathy Category 98909 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98909 Desminopathy Disease 98910 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98910 Alpha-crystallinopathy Clinical group 280553 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280553 Fatal infantile hypertonic myofibrillar myopathy Disease 399058 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=399058 Alpha-B crystallin-related late-onset myopathy Disease 209224 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209224 Myotilinopathy Category 268129 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268129 Spheroid body myopathy Disease 98911 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98911 Distal myotilinopathy Disease 98912 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98912 Late-onset distal myopathy, Markesbery-Griggs type Disease 171445 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171445 Muscle filaminopathy Disease 199340 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199340 BAG3-related myofibrillar myopathy Disease 476403 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=476403 Hypercontractile muscle stiffness syndrome Clinical group 476406 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=476406 Congenital generalized hypercontractile muscle stiffness syndrome Disease 280553 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280553 Fatal infantile hypertonic myofibrillar myopathy Disease 700170 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700170 DNAJB4-related distal myopathy Disease 496686 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=496686 Kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome Disease 476093 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=476093 HSPB8-related autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome Disease 972 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=972 Hereditary continuous muscle fiber activity Disease 53347 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53347 Brody myopathy Disease 97238 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97238 Rippling muscle disease Disease 97245 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97245 Congenital myopathy Category 3010 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3010 Qazi-Markouizos syndrome Disease 1358 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1358 Carey-Fineman-Ziter syndrome Malformation syndrome 2020 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2020 Congenital fiber-type disproportion myopathy Disease 2593 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2593 Tubular aggregate myopathy Disease 3068 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3068 Intellectual disability-myopathy-short stature-endocrine defect syndrome Disease 595 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=595 Centronuclear myopathy Clinical group 596 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=596 X-linked centronuclear myopathy Disease 169186 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169186 Autosomal recessive centronuclear myopathy Disease 169189 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169189 Autosomal dominant centronuclear myopathy Disease 456328 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=456328 X-linked myotubular myopathy-abnormal genitalia syndrome Disease 604680 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=604680 Symptomatic form of X-linked centronuclear myopathy in female carriers Disease 319160 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319160 Congenital myopathy with internal nuclei and atypical cores Disease 53698 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53698 Myosin storage myopathy Disease 636965 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=636965 Autosomal dominant myosin storage myopathy Clinical subtype 636970 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=636970 Autosomal recessive myosin storage myopathy Clinical subtype 97232 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97232 Fingerprint body myopathy Disease 97239 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97239 Reducing body myopathy Disease 97240 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97240 Zebra body myopathy Disease 98904 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98904 Congenital myopathy with excess of thin filaments Disease 99741 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99741 King-Denborough syndrome Malformation syndrome 168572 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168572 Native American myopathy Malformation syndrome 171881 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171881 Cap myopathy Disease 171886 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171886 Cylindrical spirals myopathy Disease 171889 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171889 Myopathy with hexagonally cross-linked tubular arrays Disease 172976 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=172976 Congenital myopathy with cores Clinical group 597 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=597 Central core disease Disease 598 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=598 Multiminicore myopathy Disease 98905 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98905 Congenital multicore myopathy with external ophthalmoplegia Clinical subtype 178145 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178145 Moderate multiminicore disease with hand involvement Clinical subtype 178148 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178148 Antenatal multiminicore disease with arthrogryposis multiplex congenita Clinical subtype 324604 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324604 Classic multiminicore myopathy Clinical subtype 319160 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319160 Congenital myopathy with internal nuclei and atypical cores Disease 210163 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=210163 Congenital lethal myopathy, Compton-North type Disease 324581 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324581 Benign Samaritan congenital myopathy Disease 363409 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363409 Fetal akinesia-cerebral and retinal hemorrhage syndrome Disease 424107 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=424107 Congenital myopathy with myasthenic-like onset Disease 439212 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=439212 Early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome Disease 544602 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=544602 Congenital myopathy with reduced type 2 muscle fibers Disease 447974 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447974 Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome Malformation syndrome 467176 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=467176 Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome Disease 457074 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457074 Congenital nemaline myopathy Clinical group 98902 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98902 Amish nemaline myopathy Disease 171430 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171430 Severe congenital nemaline myopathy Disease 171433 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171433 Intermediate nemaline myopathy Disease 171436 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171436 Typical nemaline myopathy Disease 98486 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98486 Metabolic myopathy Category 206966 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206966 Mitochondrial myopathy Category 502423 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=502423 Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome Disease 480 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480 Kearns-Sayre syndrome Disease 550 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=550 MELAS Disease 551 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=551 MERRF Disease 2609 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2609 Isolated complex I deficiency Disease 45 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=45 Adenosine monophosphate deaminase deficiency Disease 111 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=111 Barth syndrome Disease 2597 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2597 Mitochondrial myopathy-lactic acidosis-deafness syndrome Disease 2598 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2598 Mitochondrial myopathy and sideroblastic anemia Disease 746 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=746 Mitochondrial trifunctional protein deficiency Disease 3208 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3208 Isolated succinate-CoQ reductase deficiency Disease 663 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=663 Mitochondrial DNA-related progressive external ophthalmoplegia Disease 298 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=298 Mitochondrial neurogastrointestinal encephalomyopathy Disease 70595 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=70595 Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome Disease 329314 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329314 Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency Disease 329336 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329336 Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy Disease 330054 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=330054 Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome Disease 352470 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352470 DNA2-related mitochondrial DNA deletion syndrome Disease 254875 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254875 Mitochondrial DNA depletion syndrome, myopathic form Disease 352447 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352447 Progressive external ophthalmoplegia-myopathy-emaciation syndrome Disease 457050 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457050 Autosomal dominant mitochondrial myopathy with exercise intolerance Disease 43115 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=43115 Hereditary myopathy with lactic acidosis due to ISCU deficiency Disease 171690 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171690 Metabolic myopathy due to lactate transporter defect Disease 206953 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206953 Muscular lipidosis Category 157 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157 Carnitine palmitoyltransferase II deficiency Disease 228302 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228302 Carnitine palmitoyl transferase II deficiency, myopathic form Clinical subtype 228305 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228305 Carnitine palmitoyl transferase II deficiency, severe infantile form Clinical subtype 228308 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228308 Carnitine palmitoyl transferase II deficiency, neonatal form Clinical subtype 165 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=165 Neutral lipid storage disease Clinical group 98907 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98907 Neutral lipid storage disease with ichthyosis Disease 98908 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98908 Neutral lipid storage disease with myopathy Disease 692305 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=692305 Triglyceride deposit cardiomyovasculopathy Disease 692296 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=692296 Idiopathic triglyceride deposit cardiomyovasculopathy Etiological subtype 565612 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=565612 Primary triglyceride deposit cardiomyovasculopathy Etiological subtype 158 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158 Systemic primary carnitine deficiency Disease 2596 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2596 Myopathy and diabetes mellitus Disease 26791 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=26791 Multiple acyl-CoA dehydrogenase deficiency Disease 394529 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=394529 Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type Clinical subtype 394532 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=394532 Multiple acyl-CoA dehydrogenase deficiency, mild type Clinical subtype 26792 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=26792 Short chain acyl-CoA dehydrogenase deficiency Disease 26793 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=26793 Very long chain acyl-CoA dehydrogenase deficiency Disease 99845 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99845 Genetic recurrent myoglobinuria Disease 99846 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99846 Autosomal dominant myoglobinuria Disease 206959 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206959 Muscular glycogenosis Clinical group 365 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=365 Glycogen storage disease due to acid maltase deficiency Disease 308552 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308552 Glycogen storage disease due to acid maltase deficiency, infantile onset Clinical subtype 420429 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=420429 Glycogen storage disease due to acid maltase deficiency, late-onset Clinical subtype 366 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=366 Glycogen storage disease due to glycogen debranching enzyme deficiency Disease 367 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=367 Glycogen storage disease due to glycogen branching enzyme deficiency Disease 206583 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206583 Adult polyglucosan body disease Clinical subtype 308621 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308621 Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form Clinical subtype 308638 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308638 Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form Clinical subtype 308655 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308655 Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form Clinical subtype 308670 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308670 Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form Clinical subtype 308684 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308684 Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form Clinical subtype 308698 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308698 Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form Clinical subtype 308712 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308712 Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form Clinical subtype 368 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=368 Glycogen storage disease due to muscle glycogen phosphorylase deficiency Disease 371 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=371 Glycogen storage disease due to muscle phosphofructokinase deficiency Disease 715 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=715 Glycogen storage disease due to muscle phosphorylase kinase deficiency Disease 713 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=713 Glycogen storage disease due to phosphoglycerate kinase 1 deficiency Disease 34587 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=34587 Danon disease Disease 79240 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79240 Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency Disease 97234 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97234 Glycogen storage disease due to phosphoglycerate mutase deficiency Disease 99849 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99849 Glycogen storage disease due to muscle beta-enolase deficiency Disease 263297 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263297 Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency Disease 284426 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284426 Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency Clinical subtype 397937 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397937 Polyglucosan body myopathy type 1 Disease 456369 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=456369 Polyglucosan body myopathy type 2 Disease 289380 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289380 Myosclerosis Disease 206662 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206662 Inclusion myopathy Category 602 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=602 GNE myopathy Disease 25980 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=25980 X-linked myopathy with excessive autophagy Disease 52430 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52430 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia Disease 79091 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79091 Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome Disease 84132 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=84132 Desmin-related myopathy with Mallory body-like inclusions Disease 98909 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98909 Desminopathy Disease 178464 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178464 Hereditary myopathy with early respiratory failure Disease 324381 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324381 Hereditary inclusion body myopathy type 4 Disease 363677 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363677 Childhood-onset autosomal recessive myopathy with external ophthalmoplegia Disease 289377 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289377 Early-onset myopathy with fatal cardiomyopathy Disease 401768 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401768 Proximal myopathy with extrapyramidal signs Disease 607 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=607 Nemaline myopathy Clinical group 98902 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98902 Amish nemaline myopathy Disease 171430 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171430 Severe congenital nemaline myopathy Disease 171433 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171433 Intermediate nemaline myopathy Disease 171436 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171436 Typical nemaline myopathy Disease 171439 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171439 Childhood-onset nemaline myopathy Disease 171442 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171442 Adult-onset nemaline myopathy Disease 221043 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=221043 Hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome Disease 206970 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206970 Myotonic syndrome Category 684 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=684 Paramyotonia congenita of Von Eulenburg Disease 612 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=612 Potassium-aggravated myotonia Clinical group 99734 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99734 Myotonia fluctuans Disease 99735 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99735 Myotonia permanens Disease 99736 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99736 Acetazolamide-responsive myotonia Disease 206647 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206647 Myotonic dystrophy Clinical group 273 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=273 Steinert myotonic dystrophy Disease 589824 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589824 Childhood-onset Steinert myotonic dystrophy Clinical subtype 589827 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589827 Juvenile-onset Steinert myotonic dystrophy Clinical subtype 589830 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589830 Adult-onset Steinert myotonic dystrophy Clinical subtype 589833 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589833 Late-onset Steinert myotonic dystrophy Clinical subtype 589821 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589821 Congenital-onset Steinert myotonic dystrophy Clinical subtype 606 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=606 Proximal myotonic myopathy Disease 206973 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206973 Congenital myotonia Clinical group 614 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=614 Thomsen and Becker disease Disease 800 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=800 Schwartz-Jampel syndrome Disease 3101 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3101 Richieri Costa-da Silva syndrome Malformation syndrome 206976 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206976 Periodic paralysis Clinical group 681 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=681 Hypokalemic periodic paralysis Disease 682 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=682 Hyperkalemic periodic paralysis Disease 37553 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=37553 Andersen-Tawil syndrome Disease 79102 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79102 Thyrotoxic periodic paralysis Disease 397750 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397750 Periodic paralysis with later-onset distal motor neuropathy Disease 397755 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397755 Periodic paralysis with transient compartment-like syndrome Disease 206638 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206638 Acquired skeletal muscle disease Category 1320 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1320 Idiopathic camptocormia Morphological anomaly 592 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=592 Macrophagic myofasciitis Disease 98482 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98482 Idiopathic inflammatory myopathy Category 611 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=611 Inclusion body myositis Disease 732 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=732 Polymyositis Disease 221 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=221 Dermatomyositis Disease 645617 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645617 Amyopathic dermatomyositis Clinical subtype 645626 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645626 Adermatopathic dermatomyositis Clinical subtype 645613 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645613 Classical dermatomyositis Clinical subtype 3165 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3165 Eosinophilic fasciitis Disease 81 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=81 Antisynthetase syndrome Disease 48918 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=48918 Focal myositis Disease 206569 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206569 Immune-mediated necrotizing myopathy Disease 206572 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206572 Overlap myositis Disease 247718 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247718 Inflammatory myopathy with abundant macrophages Disease 247724 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247724 Idiopathic eosinophilic myositis Disease 329888 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329888 Juvenile idiopathic inflammatory myopathy Category 93568 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93568 Juvenile polymyositis Disease 93672 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93672 Juvenile dermatomyositis Disease 329894 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329894 Juvenile overlap myositis Disease 206982 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206982 Muscular tumor Category 780 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=780 Rhabdomyosarcoma Disease 99756 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99756 Alveolar rhabdomyosarcoma Clinical subtype 293199 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293199 Pleomorphic rhabdomyosarcoma Clinical subtype 99757 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99757 Embryonal rhabdomyosarcoma Clinical subtype 2591 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2591 Infantile myofibromatosis Disease 79105 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79105 Myxofibrosarcoma Disease 206988 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206988 Infectious, fungal or parasitic myopathy Category 206991 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206991 Viral myositis Disease 206994 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206994 Bacterial myositis Disease 206997 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206997 Parasitic myositis Category 863 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=863 Trichinellosis Disease 207000 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=207000 Fungal myositis Disease 447881 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447881 Idiopathic dropped head syndrome Clinical syndrome 98491 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98491 Neuromuscular junction disease Category 98494 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98494 Acquired neuromuscular junction disease Category 1267 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1267 Botulism Disease 228371 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228371 Foodborne botulism Clinical subtype 230800 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=230800 Toxin-mediated infectious botulism Clinical subtype 178475 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178475 Wound botulism Etiological subtype 178481 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178481 Intestinal botulism Clinical subtype 178478 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178478 Infant botulism Clinical subtype 178487 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178487 Adult intestinal botulism Clinical subtype 254504 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254504 Inhalational botulism Clinical subtype 254509 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254509 Iatrogenic botulism Clinical subtype 464764 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=464764 Immune-mediated acquired neuromuscular junction disease Clinical group 589 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589 Myasthenia gravis Disease 391490 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391490 Adult-onset myasthenia gravis Clinical subtype 391497 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391497 Juvenile myasthenia gravis Clinical subtype 391504 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391504 Transient neonatal myasthenia gravis Clinical subtype 43393 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=43393 Lambert-Eaton myasthenic syndrome Disease 206575 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206575 Rippling muscle disease with myasthenia gravis Disease 98495 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98495 Genetic neuromuscular junction disease Category 590 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=590 Congenital myasthenic syndrome Disease 98913 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98913 Postsynaptic congenital myasthenic syndrome Etiological subtype 716742 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=716742 Congenital myasthenic syndrome with kinetic defect Etiological subtype 716758 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=716758 Fast-channel congenital myasthenic syndrome Etiological subtype 716765 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=716765 Slow-channel congenital myasthenic syndrome Etiological subtype 716772 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=716772 Congenital myasthenic syndrome with kinetic defect due to reduced ion channel conductance Etiological subtype 716816 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=716816 Congenital myasthenic syndrome with primary acetylcholine receptor deficiency Etiological subtype 716881 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=716881 Congenital myasthenic syndrome due to a sodium channel 1.4 defect Etiological subtype 716825 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=716825 Congenital myasthenic syndrome due to defects in endplate development and maintenance Etiological subtype 98914 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98914 Presynaptic congenital myasthenic syndromes Etiological subtype 716893 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=716893 Congenital myasthenic syndrome due to defective synthesis or recycling of acetylcholine Etiological subtype 716899 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=716899 Congenital myasthenic syndrome due to defective synaptic vesicles exocytosis Etiological subtype 716908 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=716908 Autosomal dominant congenital myasthenic syndromes due to defective synaptic vesicles exocytosis Etiological subtype 716903 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=716903 Autosomal recessive congenital myasthenic syndrome due to defective synaptic vesicles exocytosis Etiological subtype 716889 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=716889 Congenital myasthenic syndromes due to defective axonal transport Etiological subtype 98915 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98915 Synaptic congenital myasthenic syndrome Etiological subtype 716913 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=716913 Ubiquitously expressed proteins associated congenital myasthenic syndrome Etiological subtype 353327 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=353327 Congenital myasthenic syndrome with glycosylation defect Etiological subtype 716917 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=716917 Congenital myasthenic syndrome with mitochondrial defect Etiological subtype 98503 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98503 Motor neuron disease Category 803 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=803 Amyotrophic lateral sclerosis Disease 35689 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35689 Primary lateral sclerosis Disease 98505 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98505 Genetic motor neuron disease Category 53739 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53739 Distal hereditary motor neuropathy Clinical group 140465 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140465 Autosomal dominant distal hereditary motor neuropathy Category 1216 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1216 Autosomal dominant congenital benign spinal muscular atrophy Disease 100998 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100998 Autosomal dominant spastic paraplegia type 17 Disease 139518 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139518 Distal hereditary motor neuropathy type 1 Disease 139525 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139525 Distal hereditary motor neuropathy type 2 Disease 139536 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139536 Distal hereditary motor neuropathy type 5 Disease 139589 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139589 Distal hereditary motor neuropathy type 7 Disease 397744 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397744 MYH14-related peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome Disease 476093 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=476093 HSPB8-related autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome Disease 140468 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140468 Autosomal recessive distal hereditary motor neuropathy Category 496756 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=496756 Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome Disease 98920 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98920 Spinal muscular atrophy with respiratory distress type 1 Disease 139547 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139547 Distal spinal muscular atrophy type 3 Disease 139552 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139552 Distal hereditary motor neuropathy, Jerash type Disease 314485 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314485 Young adult-onset distal hereditary motor neuropathy Disease 658778 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=658778 COQ7-related distal hereditary motor neuropathy Disease 404538 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404538 X-linked distal hereditary motor neuropathy Category 1145 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1145 Infantile-onset X-linked spinal muscular atrophy Disease 139557 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139557 X-linked distal spinal muscular atrophy type 3 Disease 404521 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404521 Spinal muscular atrophy with respiratory distress type 2 Disease 85146 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85146 Neurogenic scapuloperoneal syndrome, Kaeser type Disease 137867 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137867 Madras motor neuron disease Disease 206701 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206701 Bulbospinal muscular atrophy Category 206704 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206704 Bulbospinal muscular atrophy of childhood Clinical group 97229 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97229 Riboflavin transporter deficiency Malformation syndrome 572543 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=572543 RFVT2-related riboflavin transporter deficiency Clinical subtype 572550 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=572550 RFVT3-related riboflavin transporter deficiency Clinical subtype 206707 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206707 Bulbospinal muscular atrophy of adult Clinical group 481 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=481 Kennedy disease Disease 206710 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206710 Generalized bulbospinal muscular atrophy Clinical group 1217 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1217 Spinal atrophy-ophthalmoplegia-pyramidal syndrome Disease 206580 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206580 Autosomal recessive lower motor neuron disease with childhood onset Disease 207012 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=207012 Spinal muscular atrophy associated with central nervous system anomaly Clinical group 1496 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1496 Corpus callosum agenesis-neuronopathy syndrome Disease 2524 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2524 Pontocerebellar hypoplasia type 2 Malformation syndrome 2254 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2254 Pontocerebellar hypoplasia type 1 Malformation syndrome 73245 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=73245 Spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome Malformation syndrome 211037 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=211037 Autosomal dominant proximal spinal muscular atrophy Clinical group 209335 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209335 Autosomal dominant adult-onset proximal spinal muscular atrophy Disease 276435 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276435 Lower motor neuron syndrome with late-adult onset Disease 363447 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363447 Autosomal dominant childhood-onset proximal spinal muscular atrophy Disease 209341 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209341 DYNC1H1-related autosomal dominant childhood-onset proximal spinal muscular atrophy Etiological subtype 363454 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363454 BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy Etiological subtype 247604 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247604 Juvenile primary lateral sclerosis Disease 293168 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293168 Infantile-onset ascending hereditary spastic paralysis Disease 300605 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300605 Juvenile amyotrophic lateral sclerosis Disease 357043 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=357043 Amyotrophic lateral sclerosis type 4 Disease 431255 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=431255 Scapuloperoneal spinal muscular atrophy Disease 70 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=70 Proximal spinal muscular atrophy Disease 83330 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83330 Proximal spinal muscular atrophy type 1 Clinical subtype 83418 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83418 Proximal spinal muscular atrophy type 2 Clinical subtype 83419 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83419 Proximal spinal muscular atrophy type 3 Clinical subtype 83420 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83420 Proximal spinal muscular atrophy type 4 Clinical subtype 486811 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=486811 Prenatal-onset spinal muscular atrophy with congenital bone fractures Disease 2590 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2590 Spinal muscular atrophy-progressive myoclonic epilepsy syndrome Disease 98506 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98506 Acquired motor neuron disease Category 2912 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2912 Poliomyelitis Disease 2942 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2942 Postpoliomyelitis syndrome Disease 65684 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65684 Monomelic amyotrophy Disease 94091 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94091 Mills syndrome Disease 99965 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99965 O'Sullivan-McLeod syndrome Disease 454706 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=454706 Progressive muscular atrophy Disease 68385 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=68385 Neurometabolic disease Category 615964 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=615964 Acute reversible leukoencephalopathy with increased urinary alpha-ketoglutarate Disease 254875 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254875 Mitochondrial DNA depletion syndrome, myopathic form Disease 254892 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254892 Autosomal dominant progressive external ophthalmoplegia Disease 254886 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254886 Autosomal recessive progressive external ophthalmoplegia Disease 663 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=663 Mitochondrial DNA-related progressive external ophthalmoplegia Disease 352447 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352447 Progressive external ophthalmoplegia-myopathy-emaciation syndrome Disease 615938 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=615938 Spastic paraparesis-cataracts-speech delay syndrome Clinical syndrome 61 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=61 Alpha-mannosidosis Disease 309288 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309288 Alpha-mannosidosis, adult form Clinical subtype 309282 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309282 Alpha-mannosidosis, infantile form Clinical subtype 93 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93 Aspartylglucosaminuria Disease 585 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=585 Multiple sulfatase deficiency Disease 141 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141 Canavan disease Disease 314911 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314911 Severe Canavan disease Clinical subtype 314918 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314918 Mild Canavan disease Clinical subtype 333 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=333 Farber disease Disease 487 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=487 Krabbe disease Disease 206443 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206443 Late-infantile/juvenile Krabbe disease Clinical subtype 206448 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206448 Adult Krabbe disease Clinical subtype 206436 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206436 Infantile Krabbe disease Clinical subtype 812 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=812 Sialidosis type 1 Disease 95 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95 Friedreich ataxia Disease 480 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480 Kearns-Sayre syndrome Disease 550 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=550 MELAS Disease 551 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=551 MERRF Disease 512 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=512 Metachromatic leukodystrophy Disease 309256 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309256 Metachromatic leukodystrophy, late infantile form Clinical subtype 309263 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309263 Metachromatic leukodystrophy, juvenile form Clinical subtype 309271 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309271 Metachromatic leukodystrophy, adult form Clinical subtype 580 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=580 Mucopolysaccharidosis type 2 Disease 217085 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217085 Mucopolysaccharidosis type 2, severe form Clinical subtype 217093 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217093 Mucopolysaccharidosis type 2, attenuated form Clinical subtype 579 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=579 Mucopolysaccharidosis type 1 Disease 93473 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93473 Hurler syndrome Clinical subtype 93474 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93474 Scheie syndrome Clinical subtype 93476 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93476 Hurler-Scheie syndrome Clinical subtype 905 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=905 Wilson disease Disease 96 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96 Ataxia with vitamin E deficiency Disease 394 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=394 Homocystinuria due to cystathionine beta-synthase deficiency Disease 644 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=644 NARP syndrome Disease 14 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=14 Abetalipoproteinemia Disease 565 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=565 Menkes disease Disease 868 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=868 Triose phosphate-isomerase deficiency Disease 385 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=385 Neurodegeneration with brain iron accumulation Clinical group 3464 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3464 Woodhouse-Sakati syndrome Disease 48818 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=48818 Aceruloplasminemia Disease 157846 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157846 Neuroferritinopathy Disease 157850 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157850 Pantothenate kinase-associated neurodegeneration Disease 216866 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216866 Classic pantothenate kinase-associated neurodegeneration Clinical subtype 216873 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216873 Atypical pantothenate kinase-associated neurodegeneration Clinical subtype 289560 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289560 Mitochondrial membrane protein-associated neurodegeneration Disease 306674 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306674 Kufor-Rakeb syndrome Disease 329284 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329284 Beta-propeller protein-associated neurodegeneration Disease 329303 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329303 PLA2G6-associated neurodegeneration Clinical group 35069 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35069 Infantile neuroaxonal dystrophy Disease 199351 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199351 Adult-onset dystonia-parkinsonism Disease 329308 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329308 Fatty acid hydroxylase-associated neurodegeneration Disease 397725 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397725 COASY protein-associated neurodegeneration Disease 496756 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=496756 Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome Disease 2609 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2609 Isolated complex I deficiency Disease 773 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=773 Adult Refsum disease Disease 22 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=22 Succinic semialdehyde dehydrogenase deficiency Disease 833 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=833 Encephalopathy due to sulfite oxidase deficiency Disease 99731 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99731 Isolated sulfite oxidase deficiency Clinical subtype 99732 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99732 Sulfite oxidase deficiency due to molybdenum cofactor deficiency Clinical subtype 308386 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308386 Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A Etiological subtype 308393 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308393 Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B Etiological subtype 308400 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308400 Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C Etiological subtype 557056 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=557056 Spastic ataxia-dysarthria due to glutaminase deficiency Disease 544488 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=544488 Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome Disease 555402 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=555402 NAD(P)HX dehydratase deficiency Disease 555407 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=555407 NAD(P)HX epimerase deficiency Disease 656279 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=656279 1p36.33 duplication syndrome Disease 642965 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=642965 Autosomal recessive ataxia due to PEX2 deficiency Disease 309819 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309819 Disorder of pterin metabolism Category 255 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=255 Dopa-responsive dystonia Clinical group 101150 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101150 Autosomal recessive dopa-responsive dystonia Disease 70594 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=70594 Dopa-responsive dystonia due to sepiapterin reductase deficiency Disease 98808 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98808 Autosomal dominant dopa-responsive dystonia Disease 238583 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238583 Hyperphenylalaninemia due to tetrahydrobiopterin deficiency Disease 226 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=226 Dihydropteridine reductase deficiency Clinical subtype 13 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=13 6-pyruvoyl-tetrahydropterin synthase deficiency Clinical subtype 2102 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2102 GTP cyclohydrolase I deficiency Clinical subtype 1578 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1578 Pterin-4 alpha-carbinolamine dehydratase deficiency Clinical subtype 508523 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=508523 Hyperphenylalaninemia due to DNAJC12 deficiency Disease 70472 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=70472 Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type Disease 447795 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447795 Lipoyl transferase 2 deficiency Biological anomaly 289573 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289573 Multiple mitochondrial dysfunctions syndrome Clinical group 569274 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=569274 Multiple mitochondrial dysfunctions syndrome type 5 Disease 569290 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=569290 Multiple mitochondrial dysfunctions syndrome type 6 Disease 401869 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401869 Multiple mitochondrial dysfunctions syndrome type 1 Disease 401874 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401874 Multiple mitochondrial dysfunctions syndrome type 2 Disease 363424 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363424 Multiple mitochondrial dysfunctions syndrome type 3 Disease 457406 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457406 Multiple mitochondrial dysfunctions syndrome type 4 Disease 351 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=351 Galactosialidosis Disease 2116 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2116 Hartnup disease Disease 506 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=506 Leigh syndrome Disease 834 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=834 Free sialic acid storage disease Disease 309324 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309324 Free sialic acid storage disease, infantile form Clinical subtype 309331 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309331 Intermediate severe Salla disease Clinical subtype 309334 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309334 Salla disease Clinical subtype 816 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=816 Sjögren-Larsson syndrome Disease 909 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=909 Cerebrotendinous xanthomatosis Disease 716 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=716 Phenylketonuria Disease 293284 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293284 Tetrahydrobiopterin-responsive phenylketonuria Clinical subtype 708895 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=708895 Tetrahydrobiopterin-unresponsive phenylketonuria Clinical subtype 354 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=354 GM1 gangliosidosis Disease 79255 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79255 GM1 gangliosidosis type 1 Clinical subtype 79256 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79256 GM1 gangliosidosis type 2 Clinical subtype 79257 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79257 GM1 gangliosidosis type 3 Clinical subtype 216 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216 Neuronal ceroid lipofuscinosis Clinical group 228329 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228329 CLN1 disease Disease 699718 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699718 Infantile CLN1 disease Clinical subtype 699739 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699739 Juvenile CLN1 disease Clinical subtype 699745 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699745 Adult CLN1 disease Clinical subtype 699734 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699734 Late infantile CLN1 disease Clinical subtype 228349 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228349 CLN2 disease Disease 699751 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699751 Infantile CLN2 disease Clinical subtype 699769 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699769 Juvenile CLN2 disease Clinical subtype 699761 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699761 Late infantile CLN2 disease Clinical subtype 228346 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228346 CLN3 disease Disease 699780 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699780 Juvenile CLN3 disease Clinical subtype 699796 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699796 Protracted juvenile CLN3 disease Clinical subtype 228343 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228343 CLN4 disease Disease 314632 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314632 CLN12 disease Disease 314629 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314629 CLN11 disease Disease 699708 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699708 CLN14 disease Disease 228360 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228360 CLN5 disease Disease 699802 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699802 Late infantile CLN5 disease Clinical subtype 699807 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699807 Juvenile CLN5 disease Clinical subtype 699812 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699812 Adult CLN5 disease Clinical subtype 228363 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228363 CLN6 disease Disease 700477 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700477 Adult CLN6 disease Clinical subtype 700467 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700467 Late infantile CLN6 disease Clinical subtype 700472 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700472 Juvenile CLN6 disease Clinical subtype 228366 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228366 CLN7 disease Disease 228354 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228354 CLN8 disease Disease 700484 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700484 Late infantile CLN8 disease Clinical subtype 1947 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1947 Northern epilepsy Clinical subtype 352709 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352709 CLN13 disease Disease 228337 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228337 CLN10 disease Disease 700487 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700487 Congenital CLN10 disease Clinical subtype 700492 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700492 Late infantile CLN10 disease Clinical subtype 700497 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700497 Juvenile CLN10 disease Clinical subtype 581 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=581 Mucopolysaccharidosis type 3 Disease 79269 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79269 Sanfilippo syndrome type A Etiological subtype 79270 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79270 Sanfilippo syndrome type B Etiological subtype 79271 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79271 Sanfilippo syndrome type C Etiological subtype 79272 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79272 Sanfilippo syndrome type D Etiological subtype 3137 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3137 Alpha-N-acetylgalactosaminidase deficiency Disease 79279 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79279 Alpha-N-acetylgalactosaminidase deficiency type 1 Clinical subtype 79280 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79280 Alpha-N-acetylgalactosaminidase deficiency type 2 Clinical subtype 79281 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79281 Alpha-N-acetylgalactosaminidase deficiency type 3 Clinical subtype 43 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=43 X-linked adrenoleukodystrophy Disease 139396 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139396 X-linked cerebral adrenoleukodystrophy Clinical subtype 139399 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139399 Adrenomyeloneuropathy Clinical subtype 646 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=646 Niemann-Pick disease type C Disease 216972 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216972 Niemann-Pick disease type C, severe perinatal form Clinical subtype 216975 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216975 Niemann-Pick disease type C, severe early infantile neurologic onset Clinical subtype 216978 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216978 Niemann-Pick disease type C, late infantile neurologic onset Clinical subtype 216981 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216981 Niemann-Pick disease type C, juvenile neurologic onset Clinical subtype 216986 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216986 Niemann-Pick disease type C, adult neurologic onset Clinical subtype 3006 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3006 Pyridoxine-dependent-developmental and epileptic encephalopathy Disease 31 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=31 Oxoglutaric aciduria Disease 382 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=382 Guanidinoacetate methyltransferase deficiency Disease 726 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=726 Alpers-Huttenlocher syndrome Disease 2388 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2388 Choreoacanthocytosis Disease 2962 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2962 De Barsy syndrome Disease 35664 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35664 ALDH18A1-related De Barsy syndrome Etiological subtype 293633 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293633 PYCR1-related De Barsy syndrome Etiological subtype 3057 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3057 Monoamine oxidase A deficiency Disease 3197 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3197 Hereditary hyperekplexia Disease 19 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=19 2-hydroxyglutaric aciduria Clinical group 79314 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79314 L-2-hydroxyglutaric aciduria Disease 79315 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79315 D-2-hydroxyglutaric aciduria Disease 356978 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=356978 D,L-2-hydroxyglutaric aciduria Disease 622 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=622 Homocystinuria without methylmalonic aciduria Disease 2169 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2169 Methylcobalamin deficiency type cblE Clinical subtype 2170 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2170 Methylcobalamin deficiency type cblG Clinical subtype 308380 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308380 Methylcobalamin deficiency type cblDv1 Clinical subtype 24 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=24 Fumaric aciduria Disease 407 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=407 Glycine encephalopathy Disease 289857 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289857 Neonatal glycine encephalopathy Clinical subtype 289860 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289860 Infantile glycine encephalopathy Clinical subtype 289863 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289863 Atypical glycine encephalopathy Clinical subtype 25 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=25 Glutaryl-CoA dehydrogenase deficiency Disease 177 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=177 Rhizomelic chondrodysplasia punctata Disease 309803 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309803 Rhizomelic chondrodysplasia punctata type 3 Etiological subtype 309789 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309789 Rhizomelic chondrodysplasia punctata type 1 Etiological subtype 309796 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309796 Rhizomelic chondrodysplasia punctata type 2 Etiological subtype 468717 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=468717 Rhizomelic chondrodysplasia punctata type 5 Etiological subtype 2066 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2066 Gamma-aminobutyric acid transaminase deficiency Disease 419 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=419 Hyperprolinemia type 1 Disease 230 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=230 Dopamine beta-hydroxylase deficiency Disease 31150 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=31150 Tangier disease Disease 35656 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35656 Coenzyme Q10 deficiency Clinical group 139485 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139485 Autosomal recessive ataxia due to ubiquinone deficiency Disease 254898 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254898 Deafness-encephaloneuropathy-obesity-valvulopathy syndrome Disease 280406 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280406 Familial steroid-resistant nephrotic syndrome with sensorineural deafness Disease 319678 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319678 Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome Disease 457185 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457185 Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome Disease 658778 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=658778 COQ7-related distal hereditary motor neuropathy Disease 35704 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35704 L-Arginine:glycine amidinotransferase deficiency Disease 35705 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35705 Neurometabolic disorder due to serine deficiency Category 2671 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2671 Neu-Laxova syndrome Malformation syndrome 583602 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=583602 Neu-Laxova syndrome due to phosphoserine aminotransferase deficiency Etiological subtype 583607 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=583607 Neu-Laxova syndrome due to 3-phosphoglycerate dehydrogenase deficiency Etiological subtype 583612 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=583612 Neu-Laxova syndrome due to 3-phosphoserine phosphatase deficiency Etiological subtype 447997 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447997 Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome Disease 583595 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=583595 Serine biosynthesis pathway deficiency, infantile/juvenile form Disease 79351 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79351 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form Etiological subtype 79350 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79350 3-phosphoserine phosphatase deficiency, infantile/juvenile form Etiological subtype 284417 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284417 Phosphoserine aminotransferase deficiency, infantile/juvenile form Etiological subtype 35708 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35708 Aromatic L-amino acid decarboxylase deficiency Disease 52503 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52503 X-linked creatine transporter deficiency Disease 59306 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=59306 McLeod neuroacanthocytosis syndrome Disease 65284 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65284 Biotin-thiamine-responsive basal ganglia disease Disease 65287 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65287 Beta-ureidopropionase deficiency Disease 71212 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71212 Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency Disease 71277 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71277 Classic glucose transporter type 1 deficiency syndrome Disease 71278 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71278 Congenital brain dysgenesis due to glutamine synthetase deficiency Disease 77260 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77260 Gaucher disease type 2 Clinical subtype 77261 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77261 Gaucher disease type 3 Clinical subtype 77292 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77292 Infantile neurovisceral acid sphingomyelinase deficiency Disease 79096 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79096 Pyridoxamine-5-phosphate deficiency-developmental and epileptic encephalopathy Disease 79097 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79097 Folinic acid-responsive seizures Disease 79101 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79101 Hyperprolinemia type 2 Disease 79155 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79155 Hydroxykynureninuria Disease 79157 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79157 2-methylbutyryl-CoA dehydrogenase deficiency Disease 79189 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79189 Peroxisome biogenesis disorder Clinical group 912 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=912 Zellweger syndrome Disease 44 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=44 Neonatal adrenoleukodystrophy Disease 772 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=772 Infantile Refsum disease Disease 88639 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88639 Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency Disease 137754 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137754 Aminoacylase 1 deficiency Disease 139406 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139406 Encephalopathy due to prosaposin deficiency Disease 166105 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166105 FASTKD2-related infantile mitochondrial encephalomyopathy Disease 168598 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168598 Methionine adenosyltransferase I/III deficiency Disease 206428 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206428 Hypoxanthine-guanine phosphoribosyltransferase deficiency Clinical group 510 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=510 Lesch-Nyhan syndrome Disease 79233 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79233 Hypoxanthine guanine phosphoribosyltransferase partial deficiency Disease 210128 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=210128 Urocanic aciduria Disease 238329 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238329 Severe X-linked mitochondrial encephalomyopathy Disease 254803 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254803 Mitochondrial DNA depletion syndrome, encephalomyopathic form Clinical group 1933 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1933 Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria Disease 17 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=17 Fatal infantile lactic acidosis with methylmalonic aciduria Disease 255235 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=255235 Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy Disease 369897 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369897 Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies Disease 255210 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=255210 Mitochondrial DNA-associated Leigh syndrome Disease 289290 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289290 Hypermethioninemia encephalopathy due to adenosine kinase deficiency Disease 300313 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300313 Congenital cataract-hearing loss-severe developmental delay syndrome Disease 309152 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309152 GM2 gangliosidosis Clinical group 796 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=796 Sandhoff disease Disease 309155 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309155 Sandhoff disease, infantile form Clinical subtype 309162 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309162 Sandhoff disease, juvenile form Clinical subtype 309169 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309169 Sandhoff disease, adult form Clinical subtype 845 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=845 Tay-Sachs disease Disease 309178 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309178 Tay-Sachs disease, infantile form Clinical subtype 309185 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309185 Tay-Sachs disease, juvenile form Clinical subtype 309192 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309192 Tay-Sachs disease, adult form Clinical subtype 309246 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309246 GM2 gangliosidosis, AB variant Disease 313850 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=313850 Infantile cerebellar-retinal degeneration Disease 324535 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324535 Combined oxidative phosphorylation defect type 11 Disease 329336 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329336 Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy Disease 79156 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79156 Seizures-intellectual disability due to hydroxylysinuria syndrome Disease 352328 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352328 MEGDEL syndrome Disease 352333 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352333 Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome Disease 742 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=742 Prolidase deficiency Disease 363534 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363534 Mitochondrial DNA depletion syndrome, hepatocerebrorenal form Disease 369942 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369942 CADDS Disease 371047 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=371047 Congenital disorder of glycosylation with neurological involvement Category 464443 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=464443 COG6-CGD Disease 692790 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=692790 ATP6AP1-CDG Disease 565899 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=565899 POMGNT2-related limb-girdle muscular dystrophy R24 Disease 2953 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2953 Musculocontractural Ehlers-Danlos syndrome Disease 602 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=602 GNE myopathy Disease 34515 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=34515 FKRP-related limb-girdle muscular dystrophy R9 Disease 79324 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79324 ALG12-CDG Disease 79332 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79332 B4GALT1-CDG Disease 206554 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206554 Fukutin-related limb-girdle muscular dystrophy R13 Disease 206564 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206564 POMGNT1-related limb-girdle muscular dystrophy R15 Disease 263494 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263494 DPM3-CDG Disease 263516 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263516 Progressive myoclonic epilepsy type 3 Disease 300536 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300536 DDOST-CDG Disease 314667 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314667 TMEM165-CDG Disease 353327 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=353327 Congenital myasthenic syndrome with glycosylation defect Etiological subtype 370980 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370980 Congenital muscular dystrophy without intellectual disability Disease 371071 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=371071 Congenital disorder of glycosylation with epilepsy as a major feature Category 79322 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79322 DPM1-CDG Disease 79323 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79323 MPDU1-CDG Disease 79326 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79326 ALG2-CDG Disease 79327 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79327 ALG1-CDG Disease 79328 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79328 ALG9-CDG Disease 79330 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79330 MOGS-CDG Disease 79333 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79333 COG7-CDG Disease 83639 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83639 Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency Disease 86309 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86309 DPAGT1-CDG Disease 95428 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95428 COG8-CDG Disease 99843 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99843 Leukocyte adhesion deficiency type II Clinical subtype 238459 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238459 SLC35A1-CDG Disease 244310 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=244310 RFT1-CDG Disease 263501 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263501 COG4-CDG Disease 280071 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280071 ALG11-CDG Disease 280633 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280633 Multiple congenital anomalies-hypotonia-seizures syndrome Malformation syndrome 300496 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300496 Multiple congenital anomalies-hypotonia-seizures syndrome type 2 Malformation syndrome 324422 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324422 ALG13-CDG Disease 329178 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329178 Congenital muscular dystrophy with intellectual disability and severe epilepsy Disease 356961 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=356961 SLC35A2-CDG Disease 357058 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=357058 Autosomal recessive cutis laxa type 2A Disease 2834 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2834 Wrinkly skin syndrome Clinical subtype 357074 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=357074 Autosomal recessive cutis laxa type 2, classic type Clinical subtype 370921 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370921 STT3A-CDG Disease 370924 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370924 STT3B-CDG Disease 370927 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370927 SSR4-CDG Disease 370933 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370933 GM3 synthase deficiency Disease 370943 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370943 Autism spectrum disorder-epilepsy-arthrogryposis syndrome Disease 3474 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3474 CHIME syndrome Malformation syndrome 272 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=272 Congenital muscular dystrophy, Fukuyama type Malformation syndrome 899 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=899 Walker-Warburg syndrome Disease 588 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=588 Muscle-eye-brain disease Malformation syndrome 79318 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79318 PMM2-CDG Disease 79320 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79320 ALG6-CDG Disease 79321 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79321 ALG3-CDG Disease 488635 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488635 Early-onset epilepsy-intellectual disability-brain anomalies syndrome Disease 466926 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466926 Seizures-scoliosis-macrocephaly syndrome Disease 435934 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=435934 COG2-CDG Disease 263487 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263487 COG5-CDG Disease 370930 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370930 XYLT1-CDG Disease 370959 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370959 Congenital muscular dystrophy with cerebellar involvement Disease 370968 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370968 Congenital muscular dystrophy with intellectual disability Disease 86812 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86812 POMT1-related limb-girdle muscular dystrophy R11 Disease 324737 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324737 SRD5A3-CDG Disease 363623 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363623 GMPPB-related limb-girdle muscular dystrophy R19 Disease 280333 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280333 Alpha-dystroglycan-related limb-girdle muscular dystrophy R16 Disease 397941 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397941 MAN1B1-CDG Disease 79329 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79329 MGAT2-CDG Disease 709 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=709 Peters plus syndrome Malformation syndrome 263508 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263508 COG1-CDG Disease 363417 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363417 Temtamy preaxial brachydactyly syndrome Malformation syndrome 352479 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352479 ISPD-related limb-girdle muscular dystrophy R20 Disease 79325 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79325 ALG8-CDG Disease 206559 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206559 POMT2-related limb-girdle muscular dystrophy R14 Disease 391348 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391348 Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome Disease 391376 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391376 Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome Disease 391417 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391417 HSD10 disease Disease 85295 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85295 HSD10 disease, atypical type Clinical subtype 391428 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391428 HSD10 disease, infantile type Clinical subtype 391457 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391457 HSD10 disease, neonatal type Clinical subtype 415286 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=415286 Bilirubin encephalopathy Clinical group 529799 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=529799 Acute bilirubin encephalopathy Clinical syndrome 529808 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=529808 Chronic bilirubin encephalopathy Clinical syndrome 420728 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=420728 Combined oxidative phosphorylation defect type 20 Disease 420733 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=420733 Combined oxidative phosphorylation defect type 21 Disease 423479 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423479 X-linked intellectual disability-limb spasticity-retinal dystrophy-arginine vasopressin deficiency Disease 431361 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=431361 Progressive encephalopathy with leukodystrophy due to DECR deficiency Disease 436271 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=436271 Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy Disease 438178 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=438178 Fatty acyl-CoA reductase 1 deficiency Disease 444013 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=444013 Combined oxidative phosphorylation defect type 23 Disease 445038 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=445038 3-methylglutaconic aciduria-neonatal cataract-neurologic involvement-congenital neutropenia syndrome Disease 445110 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=445110 Limb-girdle muscular dystrophy due to POMK deficiency Disease 447784 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447784 Mitochondrial pyruvate carrier deficiency Disease 505208 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=505208 3-methylglutaconic aciduria type 8 Disease 505216 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=505216 3-methylglutaconic aciduria type 9 Disease 508093 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=508093 MEPAN syndrome Malformation syndrome 478049 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=478049 Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome Disease 477774 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=477774 Combined oxidative phosphorylation defect type 27 Disease 457050 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457050 Autosomal dominant mitochondrial myopathy with exercise intolerance Disease 457375 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457375 ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement Disease 497623 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=497623 C12ORF65-related combined oxidative phosphorylation defect Clinical group 254930 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254930 Combined oxidative phosphorylation defect type 7 Disease 320375 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=320375 Autosomal recessive spastic paraplegia type 55 Disease 502444 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=502444 Alkaline ceramidase 3 deficiency Disease 401859 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401859 Lipoic acid synthetase deficiency Disease 436174 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=436174 Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome Disease 45 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=45 Adenosine monophosphate deaminase deficiency Disease 306511 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306511 Autosomal recessive spastic paraplegia type 48 Disease 466722 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466722 Autosomal recessive spastic paraplegia type 77 Disease 95433 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95433 Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome Disease 217396 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217396 Progressive polyneuropathy with bilateral striatal necrosis Disease 662216 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=662216 Mucopolysaccharidosis type 10 Disease 447954 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447954 Combined oxidative phosphorylation defect type 25 Disease 456369 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=456369 Polyglucosan body myopathy type 2 Disease 397937 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397937 Polyglucosan body myopathy type 1 Disease 401866 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401866 Childhood-onset spasticity with hyperglycinemia Disease 478042 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=478042 Combined oxidative phosphorylation defect type 30 Disease 642954 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=642954 Autosomal recessive ataxia due to PEX16 deficiency Disease 247815 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247815 Autosomal recessive ataxia due to PEX10 deficiency Disease 527276 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=527276 Encephalopathy due to mitochondrial and peroxisomal fission defect Disease 330050 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=330050 DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect Etiological subtype 485421 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=485421 MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect Etiological subtype 542585 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=542585 Auditory neuropathy-optic atrophy syndrome Disease 557064 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=557064 Neonatal epileptic encephalopathy due to glutaminase deficiency Disease 543470 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=543470 Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome Disease 565624 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=565624 Combined oxidative phosphorylation defect type 39 Disease 597874 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=597874 MTHFS-related developmental delay-microcephaly-short stature-epilepsy syndrome Disease 572798 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=572798 WARS2-related combined oxidative phosphorylation defect Disease 618891 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=618891 Chronic neurovisceral acid sphingomyelinase deficiency Disease 619979 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=619979 Developmental delay-immunodeficiency-leukoencephalopathy-hypohomocysteinemia syndrome Disease 217382 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217382 Neurodegenerative syndrome due to cerebral folate transport deficiency Disease 46348 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=46348 Paroxysmal extreme pain disorder Disease 69739 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69739 Athabaskan brainstem dysgenesis syndrome Disease 71281 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71281 Rare central nervous system and retinal vascular disease Category 477754 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=477754 Genetic cerebral small vessel disease Category 621758 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=621758 Fibrosis-neurodegeneration-cerebral angiomatosis syndrome Disease 247691 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247691 Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations Disease 314572 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314572 Autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome Disease 85458 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85458 Hereditary cerebral amyloid angiopathy Disease 100006 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100006 ABeta amyloidosis, Dutch type Clinical subtype 100008 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100008 ACys amyloidosis Clinical subtype 324703 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324703 ABetaL34V amyloidosis Clinical subtype 324708 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324708 ABeta amyloidosis, Iowa type Clinical subtype 324713 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324713 ABeta amyloidosis, Italian type Clinical subtype 324718 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324718 ABetaA21G amyloidosis Clinical subtype 324723 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324723 ABeta amyloidosis, Arctic type Clinical subtype 313838 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=313838 Coats plus syndrome Disease 477759 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=477759 COL4A1 or COL4A2-related cerebral small vessel disease Category 477765 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=477765 COL4A1 or COL4A2-related cerebral small vessel disease with hemorrhagic tendency Clinical group 36383 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=36383 COL4A1/2-related familial vascular leukoencephalopathy Disease 73229 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=73229 HANAC syndrome Disease 75326 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75326 Familial isolated retinal arteriolar tortuosity Disease 99810 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99810 Familial porencephaly Etiological subtype 481986 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=481986 Familial schizencephaly Etiological subtype 477762 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=477762 COL4A1 or COL4A2-related cerebral small vessel disease with ischemic tendency Clinical group 477749 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=477749 Pontine autosomal dominant microangiopathy with leukoencephalopathy Disease 136 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=136 Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy Disease 482072 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=482072 HTRA1-related cerebral small vessel disease Clinical group 199354 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199354 Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy Disease 482077 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=482077 HTRA1-related autosomal dominant cerebral small vessel disease Disease 542310 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=542310 Leukoencephalopathy with calcifications and cysts Disease 575553 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=575553 Cathepsin A-related arteriopathy-strokes-leukoencephalopathy Disease 689001 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=689001 Isolated spontaneous cervical artery dissection Disease 482092 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=482092 Rare idiopathic macular telangiectasia Category 353344 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=353344 Idiopathic macular telangiectasia type 1 Disease 353351 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=353351 Idiopathic macular telangiectasia type 3 Disease 758 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=758 Pseudoxanthoma elasticum Disease 820 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=820 Sneddon syndrome Disease 891 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=891 Familial exudative vitreoretinopathy Disease 838 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=838 Susac syndrome Disease 284247 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284247 Familial retinal arterial macroaneurysm Malformation syndrome 90065 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90065 Acquired aneurysmal subarachnoid hemorrhage Particular clinical situation in a disease or syndrome 102006 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=102006 Neurovascular malformation Category 774 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=774 Hereditary hemorrhagic telangiectasia Disease 3205 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3205 Sturge-Weber syndrome Malformation syndrome 1053 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1053 Vein of Galen malformation Morphological anomaly 1062 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1062 Hereditary neurocutaneous malformation Disease 42775 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=42775 PHACE syndrome Malformation syndrome 46724 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=46724 Brain arteriovenous malformation Morphological anomaly 53721 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53721 Spinal arteriovenous metameric syndrome Malformation syndrome 97339 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97339 Dural sinus malformation with arteriovenous shunt Morphological anomaly 141189 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141189 Cerebrofacial arteriovenous metameric syndrome Malformation syndrome 83454 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83454 Glomuvenous malformation Malformation syndrome 231160 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231160 Familial cerebral saccular aneurysm Disease 221061 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=221061 Familial cerebral cavernous malformation Malformation syndrome 71213 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71213 Retinal capillary malformation Disease 981 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=981 Internal carotid absence Morphological anomaly 353334 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=353334 Congenital retinal arteriovenous communication Morphological anomaly 521445 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=521445 Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome Malformation syndrome 140989 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140989 Primary angiitis of the central nervous system Disease 209943 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209943 IRVAN syndrome Disease 329217 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329217 Cerebral sinovenous thrombosis Disease 353356 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=353356 Vasoproliferative tumor of the retina Disease 404463 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404463 Multisystemic smooth muscle dysfunction syndrome Disease 439175 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=439175 Pediatric arterial ischemic stroke Clinical syndrome 447788 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447788 Cerebral visual impairment Clinical syndrome 477768 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=477768 Moyamoya angiopathy Clinical group 477771 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=477771 Rare disorder with a moyamoya angiopathy Category 280679 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280679 Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome Disease 401945 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401945 Moyamoya disease with early-onset achalasia Disease 636 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=636 Neurofibromatosis type 1 Disease 97685 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97685 17q11 microdeletion syndrome Clinical subtype 363700 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363700 Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion Etiological subtype 648 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=648 Noonan syndrome Malformation syndrome 3071 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3071 Costello syndrome Malformation syndrome 232 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=232 Sickle cell anemia Disease 51 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=51 Aicardi-Goutières syndrome Disease 481662 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=481662 Familial Chilblain lupus Disease 2637 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2637 Microcephalic osteodysplastic primordial dwarfism type II Malformation syndrome 870 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=870 Down syndrome Malformation syndrome 881 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=881 Turner syndrome Malformation syndrome 99413 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99413 Turner syndrome due to structural X chromosome anomalies Etiological subtype 99226 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99226 Monosomy X syndrome Etiological subtype 99228 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99228 Mosaic monosomy X syndrome Etiological subtype 42775 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=42775 PHACE syndrome Malformation syndrome 363972 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363972 Noonan syndrome-like disorder with juvenile myelomonocytic leukemia Malformation syndrome 2573 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2573 Moyamoya disease Disease 190 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=190 Coats disease Disease 892 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=892 Von Hippel-Lindau disease Disease 569 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=569 Familial or sporadic hemiplegic migraine Disease 137577 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137577 Neonatal hypoxic and ischemic brain injury Particular clinical situation in a disease or syndrome 83452 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83452 Complex regional pain syndrome Disease 99994 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99994 Complex regional pain syndrome type 2 Clinical subtype 99995 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99995 Complex regional pain syndrome type 1 Clinical subtype 87277 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=87277 Rare intellectual disability Category 101685 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101685 Rare non-syndromic intellectual disability Disease 777 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=777 X-linked non-syndromic intellectual disability Etiological subtype 88616 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88616 Autosomal recessive non-syndromic intellectual disability Etiological subtype 178469 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178469 Autosomal dominant non-syndromic intellectual disability Etiological subtype 102369 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=102369 Rare syndromic intellectual disability Category 611314 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=611314 Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome Category 3253 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3253 Cleft lip/palate-ectodermal dysplasia syndrome Malformation syndrome 61 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=61 Alpha-mannosidosis Disease 309288 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309288 Alpha-mannosidosis, adult form Clinical subtype 309282 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309282 Alpha-mannosidosis, infantile form Clinical subtype 726 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=726 Alpers-Huttenlocher syndrome Disease 494433 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=494433 MIRAGE syndrome Disease 494526 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=494526 Infantile-onset generalized dyskinesia with orofacial involvement Disease 168566 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168566 Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 Disease 59 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=59 Allan-Herndon-Dudley syndrome Disease 1175 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1175 X-linked progressive cerebellar ataxia Disease 1187 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1187 Lethal ataxia with deafness and optic atrophy Disease 3057 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3057 Monoamine oxidase A deficiency Disease 166108 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166108 Birk-Barel syndrome Disease 168577 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168577 Hereditary cryohydrocytosis with reduced stomatin Disease 171851 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171851 MEDNIK syndrome Disease 199343 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199343 EAST syndrome Disease 488613 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488613 Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome Malformation syndrome 488635 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488635 Early-onset epilepsy-intellectual disability-brain anomalies syndrome Disease 496756 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=496756 Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome Disease 496790 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=496790 Ocular anomalies-axonal neuropathy-developmental delay syndrome Disease 497623 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=497623 C12ORF65-related combined oxidative phosphorylation defect Clinical group 254930 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254930 Combined oxidative phosphorylation defect type 7 Disease 320375 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=320375 Autosomal recessive spastic paraplegia type 55 Disease 500180 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=500180 Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder Disease 500545 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=500545 Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract Disease 505216 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=505216 3-methylglutaconic aciduria type 9 Disease 505652 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=505652 CDKL5-deficiency disorder Disease 506353 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=506353 Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction Disease 512260 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=512260 Congenital cerebellar ataxia due to RNU12 mutation Disease 521390 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=521390 Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome Malformation syndrome 521406 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=521406 Dystonia-parkinsonism-hypermanganesemia syndrome Disease 522077 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=522077 Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome Disease 527276 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=527276 Encephalopathy due to mitochondrial and peroxisomal fission defect Disease 330050 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=330050 DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect Etiological subtype 485421 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=485421 MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect Etiological subtype 527497 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=527497 NKX6-2-related autosomal recessive hypomyelinating leukodystrophy Disease 531151 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=531151 9q21.13 microdeletion syndrome Malformation syndrome 536467 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=536467 B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome Clinical subtype 541423 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=541423 Growth delay-intellectual disability-hepatopathy syndrome Disease 542306 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=542306 GNB5-related intellectual disability-cardiac arrhythmia syndrome Disease 543470 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=543470 Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome Disease 544254 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=544254 SYNGAP1-related developmental and epileptic encephalopathy Disease 561854 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=561854 FOXG1 syndrome Disease 598164 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=598164 FOXG1 syndrome due to intragenic alteration Clinical subtype 261144 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261144 FOXG1 syndrome due to 14q12 microdeletion Clinical subtype 564178 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=564178 Primary hypomagnesemia-refractory seizures-intellectual disability syndrome Disease 565624 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=565624 Combined oxidative phosphorylation defect type 39 Disease 565788 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=565788 Infantile inflammatory bowel disease with neurological involvement Disease 565899 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=565899 POMGNT2-related limb-girdle muscular dystrophy R24 Disease 572798 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=572798 WARS2-related combined oxidative phosphorylation defect Disease 583595 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=583595 Serine biosynthesis pathway deficiency, infantile/juvenile form Disease 79351 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79351 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form Etiological subtype 79350 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79350 3-phosphoserine phosphatase deficiency, infantile/juvenile form Etiological subtype 284417 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284417 Phosphoserine aminotransferase deficiency, infantile/juvenile form Etiological subtype 589515 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589515 PUM1-associated developmental disability-ataxia-seizure syndrome Disease 589547 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589547 GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder Disease 589618 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589618 Dystonia 28 Disease 589821 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589821 Congenital-onset Steinert myotonic dystrophy Clinical subtype 589824 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589824 Childhood-onset Steinert myotonic dystrophy Clinical subtype 589827 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589827 Juvenile-onset Steinert myotonic dystrophy Clinical subtype 589830 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589830 Adult-onset Steinert myotonic dystrophy Clinical subtype 592564 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=592564 GNAO1-related developmental delay-seizures-movement disorder spectrum Disease 597874 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=597874 MTHFS-related developmental delay-microcephaly-short stature-epilepsy syndrome Disease 599373 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=599373 STXBP1-related encephalopathy Disease 599376 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=599376 Hypomyelination of early myelinating structures Disease 600663 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=600663 NRXN1-related severe neurodevelopmental disorder-motor stereotypies-chronic constipation-sleep-wake cycle disturbance Malformation syndrome 610573 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=610573 CLCN6-related childhood-onset progressive neurodegeneration-peripheral neuropathy syndrome Disease 611216 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=611216 Aplastic anemia-intellectual disability-dwarfism syndrome Disease 502423 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=502423 Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome Disease 314603 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314603 Autosomal recessive spastic ataxia with leukoencephalopathy Disease 397725 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397725 COASY protein-associated neurodegeneration Disease 505208 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=505208 3-methylglutaconic aciduria type 8 Disease 168598 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168598 Methionine adenosyltransferase I/III deficiency Disease 620363 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=620363 Primary hypomagnesemia-generalized seizures-intellectual disability-obesity syndrome Disease 2169 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2169 Methylcobalamin deficiency type cblE Clinical subtype 486815 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=486815 Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome Disease 2255 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2255 Pancreatic hypoplasia-diabetes-congenital heart disease syndrome Disease 1980 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1980 Bilateral striopallidodentate calcinosis Disease 71278 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71278 Congenital brain dysgenesis due to glutamine synthetase deficiency Disease 354 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=354 GM1 gangliosidosis Disease 79255 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79255 GM1 gangliosidosis type 1 Clinical subtype 79256 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79256 GM1 gangliosidosis type 2 Clinical subtype 79257 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79257 GM1 gangliosidosis type 3 Clinical subtype 88639 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88639 Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency Disease 79319 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79319 MPI-CDG Disease 36387 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=36387 Genetic epilepsy with febrile seizure plus Disease 90045 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90045 Hereditary folate malabsorption Disease 420741 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=420741 RIDDLE syndrome Malformation syndrome 73273 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=73273 Growth delay due to insulin-like growth factor I resistance Disease 123 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=123 Björnstad syndrome Disease 88644 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88644 Autosomal recessive ataxia, Beauce type Disease 93 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93 Aspartylglucosaminuria Disease 349 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=349 Fucosidosis Disease 118 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=118 Beta-mannosidosis Disease 812 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=812 Sialidosis type 1 Disease 333 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=333 Farber disease Disease 320391 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=320391 Autosomal recessive spastic paraplegia type 46 Disease 33 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33 Isovaleric acidemia Disease 98773 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98773 Spinocerebellar ataxia type 21 Disease 261 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261 Emery-Dreifuss muscular dystrophy Disease 98853 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98853 Autosomal dominant Emery-Dreifuss muscular dystrophy Etiological subtype 98855 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98855 Autosomal recessive Emery-Dreifuss muscular dystrophy Etiological subtype 98863 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98863 X-linked Emery-Dreifuss muscular dystrophy Etiological subtype 412057 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=412057 Autosomal recessive cerebellar ataxia due to STUB1 deficiency Disease 2971 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2971 Peroxisomal acyl-CoA oxidase deficiency Disease 816 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=816 Sjögren-Larsson syndrome Disease 791 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=791 Retinitis pigmentosa Disease 3204 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3204 Stormorken-Sjaastad-Langslet syndrome Disease 1194 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1194 TMEM70-related mitochondrial encephalo-cardio-myopathy Disease 94122 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94122 Cerebellar ataxia, Cayman type Disease 79096 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79096 Pyridoxamine-5-phosphate deficiency-developmental and epileptic encephalopathy Disease 298 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=298 Mitochondrial neurogastrointestinal encephalomyopathy Disease 584 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=584 Mucopolysaccharidosis type 7 Disease 578 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=578 Mucolipidosis type IV Disease 3205 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3205 Sturge-Weber syndrome Malformation syndrome 834 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=834 Free sialic acid storage disease Disease 309324 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309324 Free sialic acid storage disease, infantile form Clinical subtype 309331 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309331 Intermediate severe Salla disease Clinical subtype 309334 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309334 Salla disease Clinical subtype 581 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=581 Mucopolysaccharidosis type 3 Disease 79269 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79269 Sanfilippo syndrome type A Etiological subtype 79270 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79270 Sanfilippo syndrome type B Etiological subtype 79271 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79271 Sanfilippo syndrome type C Etiological subtype 79272 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79272 Sanfilippo syndrome type D Etiological subtype 32 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=32 Glutathione synthetase deficiency Disease 289846 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289846 Glutathione synthetase deficiency with 5-oxoprolinuria Clinical subtype 289849 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289849 Glutathione synthetase deficiency without 5-oxoprolinuria Clinical subtype 125 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=125 Bloom syndrome Disease 550 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=550 MELAS Disease 3008 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3008 Pyruvate carboxylase deficiency Disease 353308 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=353308 Pyruvate carboxylase deficiency, infantile type Clinical subtype 353314 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=353314 Pyruvate carboxylase deficiency, severe neonatal type Clinical subtype 353320 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=353320 Pyruvate carboxylase deficiency, benign type Clinical subtype 641361 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=641361 Neurodevelopmental delay-hypotonia-cerebellar ataxia-cardiac conduction defects syndrome Disease 633014 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=633014 SLC12A2-related developmental delay-intellectual disability-sensorineural deafness syndrome Disease 633021 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=633021 SLC12A2-related autosomal recessive neonatal-developmental delay-intellectual disability-feeding difficulty-sensorineural deafness syndrome Clinical subtype 633024 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=633024 SLC12A2-related autosomal dominant infantile-developmental delay-intellectual disability-sensorineural deafness syndrome Clinical subtype 643549 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=643549 Hao-Fountain syndrome Disease 643538 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=643538 Hao-Fountain syndrome due to USP7 mutation Etiological subtype 500055 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=500055 Hao-Fountain syndrome due to 16p13.2 microdeletion Etiological subtype 647788 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=647788 Neurodevelopmental delay-intellectual disability-ataxia-feeding difficulty syndrome Disease 647799 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=647799 MYT1L-related developmental delay-intellectual disability-obesity syndrome Disease 660017 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=660017 Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome Disease 1617 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1617 Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to 2q24 microdeletion Etiological subtype 660012 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=660012 Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to a NR4A2 point mutation Etiological subtype 662184 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=662184 Congenital muscular dystrophy-cataract-intellectual disability syndrome Disease 674653 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=674653 Actinomyopathy-associated syndromic thrombocytopenia Disease 675767 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=675767 Severe congenital neutropenia-developmental delay syndrome due to SRP54 deficiency Disease 662216 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=662216 Mucopolysaccharidosis type 10 Disease 662367 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=662367 NESCAV syndrome Disease 664511 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=664511 Early-onset severe Hermansky-Pudlak syndrome with hearing loss, due to AP3D1 deficiency Clinical subtype 684240 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=684240 Neurodevelopmental disorder-spasticity-movement disorder-epileptic syndrome Malformation syndrome 686999 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=686999 Lipodystrophy-demyelinating peripheral sensory-motor neuropathy syndrome Disease 692173 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=692173 Marbach-Schaaf neurodevelopmental syndrome Disease 300313 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300313 Congenital cataract-hearing loss-severe developmental delay syndrome Disease 695110 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=695110 MAN2B2-CDG Disease 695783 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=695783 EDEM3-CDG Disease 100974 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100974 FRAXF syndrome Disease 699850 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699850 2p25.3 microduplication syndrome Malformation syndrome 3464 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3464 Woodhouse-Sakati syndrome Disease 3240 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3240 Early-onset progressive leukoencephalopathy-central nervous system calcification-deafness-visual impairment syndrome Disease 1576 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1576 Infantile bilateral striatal necrosis Clinical group 225147 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=225147 Sporadic infantile bilateral striatal necrosis Disease 225154 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=225154 Familial infantile bilateral striatal necrosis Disease 66631 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=66631 CEDNIK syndrome Disease 73272 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=73272 Growth delay due to insulin-like growth factor type 1 deficiency Disease 75858 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75858 MORM syndrome Disease 85163 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85163 Hypomyelination-congenital cataract syndrome Malformation syndrome 90103 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90103 Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome Malformation syndrome 93607 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93607 Autosomal recessive proximal renal tubular acidosis Clinical subtype 778 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=778 Rett syndrome Disease 649 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=649 Norrie disease Malformation syndrome 50 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=50 Aicardi syndrome Disease 464 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=464 Incontinentia pigmenti Malformation syndrome 596 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=596 X-linked centronuclear myopathy Disease 2609 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2609 Isolated complex I deficiency Disease 2076 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2076 X-linked intellectual disability-epilepsy syndrome Clinical group 93952 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93952 X-linked intellectual disability, Hedera type Disease 163985 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163985 Hyperekplexia-epilepsy syndrome Disease 3095 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3095 Atypical Rett syndrome Disease 52368 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52368 Mohr-Tranebjaerg syndrome Disease 64747 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=64747 X-linked Charcot-Marie-Tooth disease Clinical group 99014 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99014 X-linked Charcot-Marie-Tooth disease type 5 Disease 101075 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101075 X-linked Charcot-Marie-Tooth disease type 1 Disease 101076 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101076 X-linked Charcot-Marie-Tooth disease type 2 Disease 101077 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101077 X-linked Charcot-Marie-Tooth disease type 3 Disease 101078 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101078 X-linked Charcot-Marie-Tooth disease type 4 Disease 352675 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352675 X-linked Charcot-Marie-Tooth disease type 6 Disease 67045 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=67045 X-linked intellectual disability with isolated growth hormone deficiency Clinical subtype 85277 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85277 X-linked intellectual disability, Cantagrel type Malformation syndrome 85290 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85290 X-linked intellectual disability, Wilson type Malformation syndrome 85292 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85292 X-linked spinocerebellar ataxia type 4 Disease 85294 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85294 X-linked epilepsy-learning disabilities-behavior disorders syndrome Disease 85332 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85332 X-linked intellectual disability-retinitis pigmentosa syndrome Disease 85334 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85334 X-linked neurodegenerative syndrome, Bertini type Disease 85336 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85336 X-linked neurodegenerative syndrome, Hamel type Disease 85338 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85338 X-linked intellectual disability-ataxia-apraxia syndrome Disease 94083 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94083 Partington syndrome Malformation syndrome 98890 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98890 Early-onset X-linked optic atrophy Disease 100973 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100973 FRAXE intellectual disability Disease 163721 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163721 Rolandic epilepsy-speech dyspraxia syndrome Disease 534 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=534 Oculocerebrorenal syndrome of Lowe Malformation syndrome 580 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=580 Mucopolysaccharidosis type 2 Disease 217085 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217085 Mucopolysaccharidosis type 2, severe form Clinical subtype 217093 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217093 Mucopolysaccharidosis type 2, attenuated form Clinical subtype 664 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=664 Ornithine transcarbamylase deficiency Disease 565 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=565 Menkes disease Disease 34587 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=34587 Danon disease Disease 139396 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139396 X-linked cerebral adrenoleukodystrophy Clinical subtype 206428 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206428 Hypoxanthine-guanine phosphoribosyltransferase deficiency Clinical group 510 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=510 Lesch-Nyhan syndrome Disease 79233 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79233 Hypoxanthine guanine phosphoribosyltransferase partial deficiency Disease 356961 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=356961 SLC35A2-CDG Disease 423479 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423479 X-linked intellectual disability-limb spasticity-retinal dystrophy-arginine vasopressin deficiency Disease 251383 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251383 CK syndrome Malformation syndrome 275543 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=275543 L1 syndrome Malformation syndrome 2182 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2182 Hydrocephalus with stenosis of the aqueduct of Sylvius Clinical subtype 2466 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2466 MASA syndrome Clinical subtype 1497 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1497 X-linked complicated corpus callosum dysgenesis Clinical subtype 306617 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306617 X-linked complicated spastic paraplegia type 1 Clinical subtype 324410 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324410 X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome Disease 391417 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391417 HSD10 disease Disease 85295 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85295 HSD10 disease, atypical type Clinical subtype 391428 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391428 HSD10 disease, infantile type Clinical subtype 391457 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391457 HSD10 disease, neonatal type Clinical subtype 397933 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397933 Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome Disease 456328 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=456328 X-linked myotubular myopathy-abnormal genitalia syndrome Disease 457260 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457260 X-linked intellectual disability-hypotonia-movement disorder syndrome Disease 485350 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=485350 CLCN4-related X-linked intellectual disability syndrome Disease 98791 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98791 Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16 Malformation syndrome 157954 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157954 ANE syndrome Disease 50812 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=50812 Zellweger-like syndrome without peroxisomal anomalies Disease 137898 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137898 Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome Disease 79318 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79318 PMM2-CDG Disease 79321 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79321 ALG3-CDG Disease 79323 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79323 MPDU1-CDG Disease 79325 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79325 ALG8-CDG Disease 79326 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79326 ALG2-CDG Disease 79327 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79327 ALG1-CDG Disease 79329 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79329 MGAT2-CDG Disease 86309 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86309 DPAGT1-CDG Disease 86812 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86812 POMT1-related limb-girdle muscular dystrophy R11 Disease 95428 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95428 COG8-CDG Disease 99843 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99843 Leukocyte adhesion deficiency type II Clinical subtype 206559 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206559 POMT2-related limb-girdle muscular dystrophy R14 Disease 238459 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238459 SLC35A1-CDG Disease 244310 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=244310 RFT1-CDG Disease 263487 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263487 COG5-CDG Disease 263501 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263501 COG4-CDG Disease 280071 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280071 ALG11-CDG Disease 280333 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280333 Alpha-dystroglycan-related limb-girdle muscular dystrophy R16 Disease 324737 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324737 SRD5A3-CDG Disease 329178 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329178 Congenital muscular dystrophy with intellectual disability and severe epilepsy Disease 352479 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352479 ISPD-related limb-girdle muscular dystrophy R20 Disease 357058 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=357058 Autosomal recessive cutis laxa type 2A Disease 2834 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2834 Wrinkly skin syndrome Clinical subtype 357074 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=357074 Autosomal recessive cutis laxa type 2, classic type Clinical subtype 363417 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363417 Temtamy preaxial brachydactyly syndrome Malformation syndrome 363623 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363623 GMPPB-related limb-girdle muscular dystrophy R19 Disease 370921 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370921 STT3A-CDG Disease 370924 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370924 STT3B-CDG Disease 370933 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370933 GM3 synthase deficiency Disease 370943 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370943 Autism spectrum disorder-epilepsy-arthrogryposis syndrome Disease 370959 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370959 Congenital muscular dystrophy with cerebellar involvement Disease 370968 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370968 Congenital muscular dystrophy with intellectual disability Disease 397941 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397941 MAN1B1-CDG Disease 443811 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443811 PGM3-CDG Disease 445038 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=445038 3-methylglutaconic aciduria-neonatal cataract-neurologic involvement-congenital neutropenia syndrome Disease 477774 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=477774 Combined oxidative phosphorylation defect type 27 Disease 209905 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209905 Brain-lung-thyroid syndrome Disease 220295 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=220295 Xeroderma pigmentosum-Cockayne syndrome complex Disease 231556 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231556 Late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome Disease 263410 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263410 Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome Disease 276183 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276183 Spinocerebellar ataxia type 32 Disease 280384 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280384 Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome Disease 280763 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280763 Severe intellectual disability and progressive spastic paraplegia Disease 289266 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289266 Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation Disease 289483 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289483 Intellectual disability-alacrima-achalasia syndrome Disease 293939 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293939 Distal Xq28 microduplication syndrome Malformation syndrome 293948 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293948 1p21.3 microdeletion syndrome Malformation syndrome 294023 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294023 Neonatal erythroderma-autoinflammation-inflammatory bowel disease syndrome Disease 314647 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314647 Non-progressive cerebellar ataxia with intellectual disability Disease 352333 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352333 Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome Disease 356996 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=356996 ANK3-related intellectual disability-sleep disturbance syndrome Disease 357225 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=357225 Primary non-essential cutis verticis gyrata Disease 363523 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363523 Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome Disease 369847 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369847 Intellectual disability-hyperkinetic movement-truncal ataxia syndrome Disease 98907 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98907 Neutral lipid storage disease with ichthyosis Disease 289504 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289504 Combined malonic and methylmalonic acidemia Disease 139485 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139485 Autosomal recessive ataxia due to ubiquinone deficiency Disease 238329 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238329 Severe X-linked mitochondrial encephalomyopathy Disease 22 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=22 Succinic semialdehyde dehydrogenase deficiency Disease 79324 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79324 ALG12-CDG Disease 79320 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79320 ALG6-CDG Disease 79328 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79328 ALG9-CDG Disease 284289 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284289 Adult-onset autosomal recessive cerebellar ataxia Disease 67046 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=67046 3-methylglutaconic aciduria type 1 Disease 794 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=794 Saethre-Chotzen syndrome Malformation syndrome 621 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=621 Autosomal recessive methemoglobinemia Disease 320380 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=320380 Autosomal recessive spastic paraplegia type 54 Disease 98896 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98896 Duchenne muscular dystrophy Disease 66634 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=66634 Dilated cardiomyopathy with ataxia Disease 79322 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79322 DPM1-CDG Disease 209951 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209951 Autosomal spastic paraplegia type 18 Disease 51188 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=51188 Ethylmalonic encephalopathy Disease 79239 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79239 Classic galactosemia Disease 324262 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324262 Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency Clinical subtype 263516 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263516 Progressive myoclonic epilepsy type 3 Disease 79314 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79314 L-2-hydroxyglutaric aciduria Disease 258 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=258 Laminin subunit alpha 2-related congenital muscular dystrophy Malformation syndrome 644 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=644 NARP syndrome Disease 88637 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88637 Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome Clinical subtype 33069 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33069 Dravet syndrome Disease 98811 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98811 Paroxysmal exertion-induced dyskinesia Disease 284271 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284271 Autosomal recessive cerebellar ataxia-psychomotor delay syndrome Disease 28378 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=28378 Tyrosinemia type 2 Disease 352582 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352582 Familial infantile myoclonic epilepsy Disease 100996 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100996 Kjellin syndrome Disease 324422 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324422 ALG13-CDG Disease 101006 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101006 Autosomal recessive spastic paraplegia type 26 Disease 352447 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352447 Progressive external ophthalmoplegia-myopathy-emaciation syndrome Disease 401768 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401768 Proximal myopathy with extrapyramidal signs Disease 98763 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98763 Spinocerebellar ataxia type 14 Disease 101150 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101150 Autosomal recessive dopa-responsive dystonia Disease 329284 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329284 Beta-propeller protein-associated neurodegeneration Disease 101000 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101000 Autosomal recessive spastic paraplegia type 20 Disease 320385 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=320385 Hereditary sensory and autonomic neuropathy due to TECPR2 mutation Disease 308 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308 Progressive myoclonic epilepsy type 1 Disease 300536 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300536 DDOST-CDG Disease 137754 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137754 Aminoacylase 1 deficiency Disease 238455 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238455 Infantile dystonia-parkinsonism Disease 88628 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88628 Posterior column ataxia-retinitis pigmentosa syndrome Disease 263494 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263494 DPM3-CDG Disease 319199 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319199 Autosomal recessive spastic paraplegia type 53 Disease 250977 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=250977 AICA-ribosiduria Disease 773 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=773 Adult Refsum disease Disease 35099 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35099 Non-syndromic bicoronal craniosynostosis Morphological anomaly 77293 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77293 Chronic visceral acid sphingomyelinase deficiency Disease 79644 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79644 Autosomal recessive hyperinsulinism due to Kir6.2 deficiency Disease 394 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=394 Homocystinuria due to cystathionine beta-synthase deficiency Disease 79443 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79443 Pseudohypoparathyroidism type 1A Disease 33364 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33364 Trichothiodystrophy Disease 29 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=29 Mevalonic aciduria Clinical subtype 100 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100 Ataxia-telangiectasia Disease 98914 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98914 Presynaptic congenital myasthenic syndromes Etiological subtype 716893 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=716893 Congenital myasthenic syndrome due to defective synthesis or recycling of acetylcholine Etiological subtype 716899 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=716899 Congenital myasthenic syndrome due to defective synaptic vesicles exocytosis Etiological subtype 716908 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=716908 Autosomal dominant congenital myasthenic syndromes due to defective synaptic vesicles exocytosis Etiological subtype 716903 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=716903 Autosomal recessive congenital myasthenic syndrome due to defective synaptic vesicles exocytosis Etiological subtype 716889 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=716889 Congenital myasthenic syndromes due to defective axonal transport Etiological subtype 330054 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=330054 Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome Disease 99704 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99704 Early-onset obesity-hyperphagia-severe developmental delay syndrome Disease 95496 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95496 Pituitary stalk interruption syndrome Morphological anomaly 98808 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98808 Autosomal dominant dopa-responsive dystonia Disease 99885 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99885 Isolated permanent neonatal diabetes mellitus Disease 100991 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100991 Autosomal dominant spastic paraplegia type 10 Disease 163681 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163681 CNTNAP2-related developmental and epileptic encephalopathy Disease 163746 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163746 Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease Disease 419 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=419 Hyperprolinemia type 1 Disease 65283 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65283 Timothy syndrome Malformation syndrome 595098 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=595098 Timothy syndrome type 1 Clinical subtype 595105 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=595105 Timothy syndrome type 2 Clinical subtype 595109 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=595109 Atypical Timothy syndrome Clinical subtype 177 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=177 Rhizomelic chondrodysplasia punctata Disease 309803 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309803 Rhizomelic chondrodysplasia punctata type 3 Etiological subtype 309789 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309789 Rhizomelic chondrodysplasia punctata type 1 Etiological subtype 309796 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309796 Rhizomelic chondrodysplasia punctata type 2 Etiological subtype 468717 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=468717 Rhizomelic chondrodysplasia punctata type 5 Etiological subtype 77292 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77292 Infantile neurovisceral acid sphingomyelinase deficiency Disease 254905 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254905 Isolated cytochrome C oxidase deficiency Disease 477814 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=477814 Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome Malformation syndrome 407 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=407 Glycine encephalopathy Disease 289857 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289857 Neonatal glycine encephalopathy Clinical subtype 289860 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289860 Infantile glycine encephalopathy Clinical subtype 289863 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289863 Atypical glycine encephalopathy Clinical subtype 579 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=579 Mucopolysaccharidosis type 1 Disease 93473 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93473 Hurler syndrome Clinical subtype 93474 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93474 Scheie syndrome Clinical subtype 93476 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93476 Hurler-Scheie syndrome Clinical subtype 137605 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137605 Legius syndrome Malformation syndrome 255235 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=255235 Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy Disease 79330 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79330 MOGS-CDG Disease 652487 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=652487 Developmental delay-overweight-facial dysmorphism-behavioral abnormalities syndrome Malformation syndrome 833 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=833 Encephalopathy due to sulfite oxidase deficiency Disease 99731 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99731 Isolated sulfite oxidase deficiency Clinical subtype 99732 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99732 Sulfite oxidase deficiency due to molybdenum cofactor deficiency Clinical subtype 308386 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308386 Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A Etiological subtype 308393 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308393 Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B Etiological subtype 308400 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308400 Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C Etiological subtype 1571 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1571 Knobloch syndrome Malformation syndrome 641353 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=641353 Infantile neurodegeneration-progressive spasticity-intellectual disability-white matter lesions syndrome Disease 2785 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2785 Osteopetrosis with renal tubular acidosis Disease 1451 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1451 CINCA syndrome Disease 910 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=910 Xeroderma pigmentosum Disease 713 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=713 Glycogen storage disease due to phosphoglycerate kinase 1 deficiency Disease 46 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=46 Adenylosuccinate lyase deficiency Disease 435638 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=435638 3p25.3 microdeletion syndrome Malformation syndrome 438114 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=438114 RARS-related autosomal recessive hypomyelinating leukodystrophy Disease 438134 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=438134 PCNA-related progressive neurodegenerative photosensitivity syndrome Disease 438178 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=438178 Fatty acyl-CoA reductase 1 deficiency Disease 444013 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=444013 Combined oxidative phosphorylation defect type 23 Disease 457351 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457351 Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome Malformation syndrome 466926 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466926 Seizures-scoliosis-macrocephaly syndrome Disease 466934 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466934 VPS11-related autosomal recessive hypomyelinating leukodystrophy Disease 468620 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=468620 Intellectual disability-epilepsy-extrapyramidal syndrome Disease 477673 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=477673 Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome Disease 436151 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=436151 Intellectual disability-expressive aphasia-facial dysmorphism syndrome Malformation syndrome 1934 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1934 Early infantile developmental and epileptic encephalopathy Clinical syndrome 415 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=415 Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome Disease 401810 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401810 Autosomal recessive spastic paraplegia type 64 Disease 2382 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2382 Lennox-Gastaut syndrome Disease 439218 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=439218 KCNQ2-related developmental and epileptic encephalopathy Disease 442835 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=442835 Non-specific early-onset epileptic encephalopathy Disease 1942 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1942 Epilepsy with myoclonic-atonic seizures Disease 466794 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466794 Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome Disease 459056 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=459056 Autosomal recessive spastic paraplegia type 75 Disease 95716 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95716 Familial thyroid dyshormonogenesis Disease 3006 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3006 Pyridoxine-dependent-developmental and epileptic encephalopathy Disease 927 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=927 Hyperammonemia due to N-acetylglutamate synthase deficiency Disease 159 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=159 Carnitine-acylcarnitine translocase deficiency Disease 3208 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3208 Isolated succinate-CoQ reductase deficiency Disease 88619 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88619 Familial acute necrotizing encephalopathy Disease 1933 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1933 Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria Disease 361 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=361 Familial glucocorticoid deficiency Disease 251347 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251347 Ataxia-telangiectasia-like disorder Disease 320396 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=320396 Autosomal recessive spastic paraplegia type 45 Disease 320411 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=320411 Autosomal recessive spastic paraplegia type 56 Disease 352403 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352403 Spectrin-associated autosomal recessive cerebellar ataxia Disease 352649 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352649 Brain dopamine-serotonin vesicular transport disease Disease 65 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65 Leber congenital amaurosis Disease 2116 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2116 Hartnup disease Disease 27 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=27 Vitamin B12-unresponsive methylmalonic acidemia Disease 79312 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79312 Vitamin B12-unresponsive methylmalonic acidemia type mut- Clinical subtype 289916 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289916 Vitamin B12-unresponsive methylmalonic acidemia type mut0 Clinical subtype 1561 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1561 Fatal infantile cytochrome C oxidase deficiency Disease 381 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=381 Griscelli syndrome Disease 79476 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79476 Griscelli syndrome type 1 Clinical subtype 79477 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79477 Griscelli syndrome type 2 Clinical subtype 79478 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79478 Griscelli syndrome type 3 Clinical subtype 511 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=511 Maple syrup urine disease Disease 268145 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268145 Classic maple syrup urine disease Clinical subtype 268162 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268162 Intermediate maple syrup urine disease Clinical subtype 268173 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268173 Intermittent maple syrup urine disease Clinical subtype 268184 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268184 Thiamine-responsive maple syrup urine disease Clinical subtype 1460 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1460 Isolated complex III deficiency Disease 909 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=909 Cerebrotendinous xanthomatosis Disease 1775 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1775 Dyskeratosis congenita Disease 702 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=702 Pelizaeus-Merzbacher disease Disease 280210 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280210 Pelizaeus-Merzbacher disease, connatal form Clinical subtype 280219 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280219 Pelizaeus-Merzbacher disease, classic form Clinical subtype 280224 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280224 Pelizaeus-Merzbacher disease, transitional form Clinical subtype 280229 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280229 Pelizaeus-Merzbacher disease in female carriers Clinical subtype 280234 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280234 Null syndrome Clinical subtype 2375 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2375 Laryngeal abductor paralysis-intellectual disability syndrome Malformation syndrome 2379 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2379 Early-onset parkinsonism-intellectual disability syndrome Disease 447760 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447760 Autosomal recessive spastic paraplegia type 9B Disease 447997 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447997 Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome Disease 453510 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=453510 Congenital insensitivity to pain with severe intellectual disability Disease 453521 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=453521 Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency Disease 453533 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=453533 Polyendocrine-polyneuropathy syndrome Disease 480864 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480864 Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome Disease 1065 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1065 Aniridia-cerebellar ataxia-intellectual disability syndrome Malformation syndrome 805 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=805 Tuberous sclerosis complex Disease 51 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=51 Aicardi-Goutières syndrome Disease 1008 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1008 Alopecia-epilepsy-pyorrhea-intellectual disability syndrome Disease 1188 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1188 Ataxia-deafness-intellectual disability syndrome Malformation syndrome 1313 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1313 Infantile choroidocerebral calcification syndrome Disease 1375 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1375 Cataract-hypertrichosis-intellectual disability syndrome Malformation syndrome 742 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=742 Prolidase deficiency Disease 1766 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1766 Dysequilibrium syndrome Disease 2269 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2269 Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome Disease 2435 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2435 Hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome Disease 2818 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2818 Spastic paraplegia-glaucoma-intellectual disability syndrome Disease 2822 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2822 Autosomal recessive spastic paraplegia type 11 Disease 2850 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2850 Alopecia-intellectual disability syndrome Disease 2885 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2885 Piebald trait-neurologic defects syndrome Malformation syndrome 3011 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3011 Spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome Disease 3068 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3068 Intellectual disability-myopathy-short stature-endocrine defect syndrome Disease 23 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=23 Argininosuccinic aciduria Disease 2268 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2268 ICF syndrome Malformation syndrome 642 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=642 Hereditary sensory and autonomic neuropathy type 4 Disease 760 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=760 Purine nucleoside phosphorylase deficiency Disease 2598 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2598 Mitochondrial myopathy and sideroblastic anemia Disease 1170 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1170 Autosomal recessive cerebelloparenchymal disorder type 3 Disease 643 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=643 Giant axonal neuropathy Disease 238722 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238722 Familial congenital mirror movements Disease 30 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=30 Hereditary orotic aciduria Disease 70594 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=70594 Dopa-responsive dystonia due to sepiapterin reductase deficiency Disease 363432 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363432 Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency Clinical subtype 134 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=134 Beta-ketothiolase deficiency Disease 2505 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2505 Multiple benign circumferential skin creases on limbs Disease 2526 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2526 Microcephaly-lymphedema-chorioretinopathy syndrome Malformation syndrome 1946 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1946 Amelocerebrohypohidrotic syndrome Malformation syndrome 559 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=559 Marinesco-Sjögren syndrome Disease 869 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=869 Triple A syndrome Disease 64 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=64 Alström syndrome Disease 124 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=124 Diamond-Blackfan anemia Disease 2500 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2500 Acrogeria Malformation syndrome 2573 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2573 Moyamoya disease Disease 2780 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2780 Osteopathia striata-cranial sclerosis syndrome Malformation syndrome 3137 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3137 Alpha-N-acetylgalactosaminidase deficiency Disease 79279 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79279 Alpha-N-acetylgalactosaminidase deficiency type 1 Clinical subtype 79280 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79280 Alpha-N-acetylgalactosaminidase deficiency type 2 Clinical subtype 79281 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79281 Alpha-N-acetylgalactosaminidase deficiency type 3 Clinical subtype 26 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=26 Methylmalonic acidemia with homocystinuria Disease 79282 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79282 Methylmalonic acidemia with homocystinuria, type cblC Clinical subtype 79283 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79283 Methylmalonic acidemia with homocystinuria, type cblD Clinical subtype 79284 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79284 Methylmalonic acidemia with homocystinuria type cblF Clinical subtype 369955 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369955 Methylmalonic acidemia with homocystinuria, type cblJ Clinical subtype 369962 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369962 Methylmalonic acidemia with homocystinuria, type cblX Clinical subtype 1867 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1867 Hereditary bullous dystrophy, macular type Disease 3077 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3077 X-linked intellectual disability-psychosis-macroorchidism syndrome Malformation syndrome 3175 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3175 X-linked spasticity-intellectual disability-epilepsy syndrome Disease 3322 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3322 Hoyeraal-Hreidarsson syndrome Disease 765 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=765 Pyruvate dehydrogenase deficiency Disease 2394 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2394 Pyruvate dehydrogenase E3 deficiency Clinical subtype 79243 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79243 Pyruvate dehydrogenase E1-alpha deficiency Clinical subtype 79244 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79244 Pyruvate dehydrogenase E2 deficiency Clinical subtype 79246 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79246 Pyruvate dehydrogenase phosphatase deficiency Clinical subtype 255138 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=255138 Pyruvate dehydrogenase E1-beta deficiency Clinical subtype 255182 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=255182 Pyruvate dehydrogenase E3-binding protein deficiency Clinical subtype 3222 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3222 Phosphoribosylpyrophosphate synthetase superactivity Disease 411536 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=411536 Mild phosphoribosylpyrophosphate synthetase superactivity Clinical subtype 411543 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=411543 Severe phosphoribosylpyrophosphate synthetase superactivity Clinical subtype 382 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=382 Guanidinoacetate methyltransferase deficiency Disease 370022 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370022 Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome Disease 370079 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370079 Proximal 16p11.2 microduplication syndrome Malformation syndrome 401777 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401777 Optic atrophy-intellectual disability syndrome Disease 404454 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404454 Alacrimia-choreoathetosis-liver dysfunction syndrome Disease 404481 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404481 Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome Clinical group 284282 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284282 Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency Disease 404493 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404493 Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency Disease 404499 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404499 Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency Disease 412069 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=412069 AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome Malformation syndrome 3157 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3157 Septo-optic dysplasia spectrum Malformation syndrome 3197 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3197 Hereditary hyperekplexia Disease 102283 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=102283 Multiple congenital anomalies/dysmorphic syndrome-intellectual disability Category 85325 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85325 X-linked intellectual disability, Stevenson type Malformation syndrome 85326 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85326 X-linked intellectual disability, Stoll type Malformation syndrome 85327 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85327 X-linked intellectual disability-acromegaly-hyperactivity syndrome Disease 85329 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85329 X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome Malformation syndrome 85335 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85335 Fried syndrome Malformation syndrome 86818 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86818 Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome Disease 90650 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90650 Otopalatodigital syndrome type 1 Malformation syndrome 90652 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90652 Otopalatodigital syndrome type 2 Malformation syndrome 137831 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137831 X-linked intellectual disability-cerebellar hypoplasia syndrome Disease 163937 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163937 X-linked intellectual disability, Najm type Disease 163956 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163956 X-linked intellectual disability, Nascimento type Disease 163961 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163961 X-linked cerebral-cerebellar-coloboma syndrome Disease 163966 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163966 X-linked dominant chondrodysplasia, Chassaing-Lacombe type Disease 163971 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163971 X-linked intellectual disability, Cilliers type Disease 163976 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163976 X-linked intellectual disability, Van Esch type Malformation syndrome 163979 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163979 X-linked intellectual disability-craniofacioskeletal syndrome Disease 52503 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52503 X-linked creatine transporter deficiency Disease 276630 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276630 Symptomatic form of Coffin-Lowry syndrome in female carriers Malformation syndrome 300496 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300496 Multiple congenital anomalies-hypotonia-seizures syndrome type 2 Malformation syndrome 364028 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=364028 X-linked intellectual disability due to GRIA3 mutations Disease 370927 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370927 SSR4-CDG Disease 431140 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=431140 X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome Malformation syndrome 435938 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=435938 X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome Malformation syndrome 99329 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99329 48,XYYY syndrome Malformation syndrome 139474 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139474 17q11.2 microduplication syndrome Malformation syndrome 141333 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141333 Biemond syndrome type 2 Disease 163649 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163649 Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome Disease 163665 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163665 Spondyloepiphyseal dysplasia tarda, Kohn type Disease 818 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=818 Smith-Lemli-Opitz syndrome Malformation syndrome 87876 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=87876 Sialidosis type 2 Disease 93399 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93399 Juvenile sialidosis type 2 Clinical subtype 93400 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93400 Congenital sialidosis type 2 Clinical subtype 3474 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3474 CHIME syndrome Malformation syndrome 280633 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280633 Multiple congenital anomalies-hypotonia-seizures syndrome Malformation syndrome 370930 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370930 XYLT1-CDG Disease 199318 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199318 15q13.3 microdeletion syndrome Malformation syndrome 210548 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=210548 Macrocephaly-intellectual disability-autism syndrome Disease 217017 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217017 Zechi-Ceide syndrome Malformation syndrome 217340 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217340 17q21.31 microduplication syndrome Malformation syndrome 217346 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217346 19q13.11 microdeletion syndrome Malformation syndrome 217377 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217377 Microduplication Xp11.22p11.23 syndrome Malformation syndrome 217385 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217385 17p13.3 microduplication syndrome Malformation syndrome 221120 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=221120 Pseudoaminopterin syndrome Malformation syndrome 228426 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228426 Syndromic multisystem autoimmune disease due to Itch deficiency Disease 247262 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247262 Hyperphosphatasia-intellectual disability syndrome Disease 250972 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=250972 Polymicrogyria with optic nerve hypoplasia Malformation syndrome 254516 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254516 Temple syndrome Malformation syndrome 96184 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96184 Temple syndrome due to maternal uniparental disomy of chromosome 14 Etiological subtype 254525 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254525 Temple syndrome due to paternal 14q32.2 microdeletion Etiological subtype 254531 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254531 Temple syndrome due to paternal 14q32.2 hypomethylation Etiological subtype 254519 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254519 Kagami-Ogata syndrome Malformation syndrome 96334 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 Etiological subtype 254528 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254528 Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion Etiological subtype 254534 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254534 Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation Etiological subtype 261494 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261494 Kleefstra syndrome Malformation syndrome 96147 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96147 Kleefstra syndrome due to 9q34 microdeletion Etiological subtype 261652 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261652 Kleefstra syndrome due to a point mutation Etiological subtype 284160 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284160 8q21.11 microdeletion syndrome Malformation syndrome 284180 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284180 Xp22.13p22.2 duplication syndrome Malformation syndrome 289522 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289522 Microtriplication 11q24.1 syndrome Malformation syndrome 293642 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293642 Blepharophimosis-intellectual disability syndrome Clinical group 1620 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1620 Distal deletion 3p syndrome Malformation syndrome 2728 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2728 Blepharophimosis-intellectual disability syndrome, Ohdo type Malformation syndrome 3047 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3047 Blepharophimosis-intellectual disability syndrome, SBBYS type Malformation syndrome 293707 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293707 Blepharophimosis-intellectual disability syndrome, MKB type Malformation syndrome 293725 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293725 Blepharophimosis-intellectual disability syndrome, Verloes type Malformation syndrome 700160 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700160 ADNP-related blepharophimosis-intellectual disability syndrome Disease 637013 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=637013 SMARCA2-related blepharophimosis-intellectual disability syndrome Malformation syndrome 293843 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293843 3MC syndrome Malformation syndrome 300305 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300305 11p15.4 microduplication syndrome Malformation syndrome 313781 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=313781 20p13 microdeletion syndrome Malformation syndrome 313795 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=313795 Jawad syndrome Malformation syndrome 313947 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=313947 2q23.1 microduplication syndrome Malformation syndrome 314034 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314034 7p22.1 microduplication syndrome Malformation syndrome 314575 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314575 Intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome Malformation syndrome 314585 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314585 15q overgrowth syndrome Malformation syndrome 1707 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1707 Distal duplication 15q syndrome Etiological subtype 314588 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314588 Distal triplication 15q syndrome Etiological subtype 314679 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314679 Cerebrofacioarticular syndrome Malformation syndrome 319171 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319171 Distal 17p13.1 microdeletion syndrome Malformation syndrome 319182 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319182 Wiedemann-Steiner syndrome Malformation syndrome 324313 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324313 9p13 microdeletion syndrome Malformation syndrome 324416 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324416 Muscular hypertrophy-hepatomegaly-polyhydramnios syndrome Malformation syndrome 324540 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324540 Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome Malformation syndrome 324761 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324761 Microcephalic primordial dwarfism Clinical group 808 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=808 Seckel syndrome Malformation syndrome 2554 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2554 Ear-patella-short stature syndrome Malformation syndrome 2643 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2643 Microcephalic primordial dwarfism, Toriello type Malformation syndrome 2636 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2636 Microcephalic osteodysplastic primordial dwarfism types I and III Malformation syndrome 2637 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2637 Microcephalic osteodysplastic primordial dwarfism type II Malformation syndrome 85172 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85172 Microcephalic osteodysplastic dysplasia, Saul-Wilson type Disease 319671 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319671 Alazami syndrome Malformation syndrome 319675 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319675 Microcephalic primordial dwarfism, Dauber type Malformation syndrome 329228 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329228 Microcephalic primordial dwarfism due to ZNF335 deficiency Malformation syndrome 468631 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=468631 Microcephalic cortical malformations-short stature due to RTTN deficiency Malformation syndrome 658595 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=658595 DNMT3A-related microcephalic dwarfism Malformation syndrome 572761 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=572761 DONSON-related microcephaly-short stature-limb abnormalities spectrum Malformation syndrome 572768 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=572768 Microcephaly-micromelia syndrome Clinical subtype 572773 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=572773 Microcephaly-short stature-limb abnormalities syndrome Clinical subtype 329224 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329224 Schuurs-Hoeijmakers syndrome Malformation syndrome 329332 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329332 Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome Malformation syndrome 329802 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329802 5p13 microduplication syndrome Malformation syndrome 352490 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352490 Autism spectrum disorder due to AUTS2 deficiency Disease 352530 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352530 Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome Disease 352577 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352577 Bainbridge-Ropers syndrome Disease 357001 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=357001 19p13.13 microdeletion syndrome Malformation syndrome 357175 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=357175 Short ulna-dysmorphism-hypotonia-intellectual disability syndrome Malformation syndrome 363444 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363444 THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome Malformation syndrome 363528 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363528 Intellectual disability-strabismus syndrome Disease 363611 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363611 CTCF-related neurodevelopmental disorder Disease 363659 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363659 20q11.2 microduplication syndrome Malformation syndrome 363680 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363680 2p13.2 microdeletion syndrome Malformation syndrome 363686 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363686 Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome Disease 363705 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363705 Craniofaciofrontodigital syndrome Disease 363741 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363741 Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome Disease 364577 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=364577 Intellectual disability-brachydactyly-Pierre Robin syndrome Malformation syndrome 369837 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369837 Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome Malformation syndrome 369891 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369891 Developmental delay-facial dysmorphism syndrome due to MED13L deficiency Malformation syndrome 369939 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369939 Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome Malformation syndrome 369950 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369950 Intellectual disability-seizures-macrocephaly-obesity syndrome Disease 370010 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370010 Intellectual disability-facial dysmorphism-hand anomalies syndrome Malformation syndrome 371364 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=371364 Hypotonia-speech impairment-severe cognitive delay syndrome Disease 700333 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700333 Hypotonia-speech impairment-severe cognitive delay syndrome due to UNC80 deficiency Clinical subtype 700336 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700336 Hypotonia-speech impairment-severe cognitive delay syndrome due to NALCN deficiency Clinical subtype 391307 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391307 Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome Malformation syndrome 391372 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391372 FOXP1 Syndrome Malformation syndrome 391408 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391408 Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome Disease 397612 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397612 Macrocephaly-developmental delay syndrome Malformation syndrome 397709 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397709 Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome Malformation syndrome 397951 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397951 Microcephaly-thin corpus callosum-intellectual disability syndrome Disease 397973 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397973 Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome Disease 401923 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401923 9q31.1q31.3 microdeletion syndrome Malformation syndrome 401935 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401935 14q24.1q24.3 microdeletion syndrome Malformation syndrome 401973 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401973 MEND syndrome Malformation syndrome 404443 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404443 Tatton-Brown-Rahman syndrome Malformation syndrome 404448 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404448 Helsmoortel-Van der Aa syndrome Malformation syndrome 404451 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404451 FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome Malformation syndrome 404473 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404473 Intellectual disability-eye abnormalities-microcephaly-peripheral spasticity syndrome Malformation syndrome 411986 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=411986 Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome Malformation syndrome 412035 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=412035 13q12.3 microdeletion syndrome Malformation syndrome 420561 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=420561 Temple-Baraitser syndrome Disease 420794 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=420794 Cono-spondylar dysplasia Malformation syndrome 423306 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423306 Microcephaly-short stature-intellectual disability-facial dysmorphism syndrome Malformation syndrome 434179 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=434179 Orofaciodigital syndrome type 14 Malformation syndrome 435628 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=435628 Keppen-Lubinsky syndrome Malformation syndrome 436141 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=436141 HIDEA syndrome Malformation syndrome 261584 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261584 5q22 microdeletion syndrome Disease 436245 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=436245 Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome Disease 438213 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=438213 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome Disease 314655 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314655 Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion Etiological subtype 438216 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=438216 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation Etiological subtype 439822 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=439822 PDE4D haploinsufficiency syndrome Malformation syndrome 444002 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=444002 11q22.2q22.3 microdeletion syndrome Malformation syndrome 444051 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=444051 20q11.2 microdeletion syndrome Malformation syndrome 444072 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=444072 Cerebellar-facial-dental syndrome Malformation syndrome 444077 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=444077 Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome Malformation syndrome 481152 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=481152 PYCR2-related microcephaly-progressive leukoencephalopathy Malformation syndrome 496641 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=496641 Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome Malformation syndrome 99812 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99812 LIG4 syndrome Disease 198 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=198 Occipital horn syndrome Disease 42775 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=42775 PHACE syndrome Malformation syndrome 46627 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=46627 Char syndrome Malformation syndrome 50815 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=50815 Branchiogenic deafness syndrome Malformation syndrome 52022 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52022 Potocki-Shaffer syndrome Malformation syndrome 65759 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65759 Carpenter syndrome Malformation syndrome 69737 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69737 Bosley-Salih-Alorainy syndrome Malformation syndrome 77298 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77298 Anophthalmia/microphthalmia-esophageal atresia syndrome Malformation syndrome 97360 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97360 Robinow syndrome Malformation syndrome 1507 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1507 Autosomal recessive Robinow syndrome Clinical subtype 3107 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3107 Autosomal dominant Robinow syndrome Clinical subtype 99741 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99741 King-Denborough syndrome Malformation syndrome 221139 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=221139 Combined immunodeficiency with facio-oculo-skeletal anomalies Disease 280679 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280679 Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome Disease 289553 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289553 Dysmorphism-conductive hearing loss-heart defect syndrome Malformation syndrome 398073 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=398073 Prader-Willi-like syndrome Clinical group 633028 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=633028 CPE-related Prader-Willi-like syndrome Disease 171829 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171829 6q16 microdeletion syndrome Disease 398079 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=398079 SIM1-related Prader-Willi-like syndrome Disease 398069 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=398069 Schaaf-Yang syndrome Disease 401986 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401986 1p31p32 microdeletion syndrome Malformation syndrome 420179 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=420179 Malan overgrowth syndrome Malformation syndrome 436003 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=436003 Contractures-developmental delay-Pierre Robin syndrome Malformation syndrome 496693 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=496693 Omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome Malformation syndrome 263508 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263508 COG1-CDG Disease 314555 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314555 Facial dysmorphism-ocular anomalies-osteopenia-intellectual disability-dental anomalies syndrome Malformation syndrome 220493 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=220493 Joubert syndrome with ocular defect Malformation syndrome 53271 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53271 Muenke syndrome Malformation syndrome 276432 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276432 Ogden syndrome Malformation syndrome 220497 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=220497 Joubert syndrome with renal defect Malformation syndrome 251019 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251019 2q32q33 deletion syndrome Malformation syndrome 46059 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=46059 Lathosterolosis Disease 411493 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=411493 Pontocerebellar hypoplasia type 10 Malformation syndrome 139471 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139471 Microphthalmia with brain and digit anomalies Malformation syndrome 284339 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284339 Pontocerebellar hypoplasia type 7 Malformation syndrome 300570 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300570 Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation Disease 217335 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217335 RIN2 syndrome Malformation syndrome 228390 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228390 Frontonasal dysplasia-alopecia-genital anomalies syndrome Malformation syndrome 423655 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423655 ARX-related encephalopathy-brain malformation spectrum Clinical group 2508 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2508 Corpus callosum agenesis-abnormal genitalia syndrome Malformation syndrome 452 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=452 X-linked lissencephaly with abnormal genitalia Malformation syndrome 35107 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35107 Desmosterolosis Disease 137634 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137634 Overgrowth-macrocephaly-facial dysmorphism syndrome Malformation syndrome 811 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=811 Shwachman-Diamond syndrome Disease 1246 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1246 Brachydactyly-nystagmus-cerebellar ataxia syndrome Malformation syndrome 1048 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1048 Isolated anencephaly/exencephaly Morphological anomaly 563609 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=563609 Isolated anencephaly Clinical subtype 563612 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=563612 Isolated exencephaly Clinical subtype 35981 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35981 Polymicrogyria Clinical group 268940 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268940 Bilateral polymicrogyria Morphological anomaly 98889 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98889 Bilateral perisylvian polymicrogyria Clinical subtype 101070 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101070 Bilateral frontoparietal polymicrogyria Clinical subtype 208441 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=208441 Bilateral parasagittal parieto-occipital polymicrogyria Clinical subtype 208444 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=208444 Bilateral frontal polymicrogyria Clinical subtype 208447 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=208447 Bilateral generalized polymicrogyria Clinical subtype 268943 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268943 Unilateral polymicrogyria Morphological anomaly 101071 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101071 Unilateral hemispheric polymicrogyria Clinical subtype 268947 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268947 Unilateral focal polymicrogyria Clinical subtype 48431 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=48431 Congenital cataracts-facial dysmorphism-neuropathy syndrome Malformation syndrome 36367 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=36367 Distal deletion 1q syndrome Malformation syndrome 60040 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=60040 Megalencephaly-capillary malformation-polymicrogyria syndrome Malformation syndrome 48471 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=48471 Lissencephaly Category 1083 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1083 Microlissencephaly Morphological anomaly 89844 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=89844 Lissencephaly syndrome, Norman-Roberts type Clinical subtype 51577 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=51577 Cobblestone lissencephaly Clinical group 352682 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352682 Cobblestone lissencephaly without muscular or ocular involvement Disease 352687 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352687 Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies Clinical group 272 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=272 Congenital muscular dystrophy, Fukuyama type Malformation syndrome 899 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=899 Walker-Warburg syndrome Disease 588 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=588 Muscle-eye-brain disease Malformation syndrome 370997 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370997 Muscle-eye-brain disease with bilateral multicystic leucodystrophy Disease 86823 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86823 Lissencephaly with cerebellar hypoplasia Clinical group 100011 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100011 Lissencephaly with cerebellar hypoplasia type A Malformation syndrome 100012 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100012 Lissencephaly with cerebellar hypoplasia type B Malformation syndrome 100013 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100013 Lissencephaly with cerebellar hypoplasia type C Malformation syndrome 100014 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100014 Lissencephaly with cerebellar hypoplasia type D Malformation syndrome 100015 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100015 Lissencephaly with cerebellar hypoplasia type E Malformation syndrome 100016 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100016 Lissencephaly with cerebellar hypoplasia type F Malformation syndrome 102009 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=102009 Classic lissencephaly Clinical group 572013 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=572013 Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome Malformation syndrome 2148 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2148 Lissencephaly type 1 due to doublecortin gene mutation Disease 531 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=531 Miller-Dieker syndrome Malformation syndrome 1084 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1084 Isolated lissencephaly type 1 without known genetic defects Disease 95232 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95232 Lissencephaly due to LIS1 mutation Disease 102010 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=102010 Other syndrome with lissencephaly as a major feature Category 1528 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1528 Craniotelencephalic dysplasia Malformation syndrome 2510 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2510 Micro syndrome Malformation syndrome 2995 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2995 Baraitser-Winter cerebrofrontofacial syndrome Malformation syndrome 452 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=452 X-linked lissencephaly with abnormal genitalia Malformation syndrome 102011 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=102011 Lissencephaly type 3 Clinical group 2671 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2671 Neu-Laxova syndrome Malformation syndrome 583602 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=583602 Neu-Laxova syndrome due to phosphoserine aminotransferase deficiency Etiological subtype 583607 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=583607 Neu-Laxova syndrome due to 3-phosphoglycerate dehydrogenase deficiency Etiological subtype 583612 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=583612 Neu-Laxova syndrome due to 3-phosphoserine phosphatase deficiency Etiological subtype 86821 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86821 Lissencephaly type 3-familial fetal akinesia sequence syndrome Malformation syndrome 86822 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86822 Lissencephaly type 3-metacarpal bone dysplasia syndrome Malformation syndrome 171680 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171680 Lissencephaly due to TUBA1A mutation Malformation syndrome 48652 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=48652 Phelan-McDermid syndrome Malformation syndrome 662172 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=662172 Phelan-McDermid syndrome due to SHANK3 mutation Etiological subtype 662169 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=662169 Phelan-McDermid syndrome due to 22q13.3 deletion Etiological subtype 50810 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=50810 Microlissencephaly-micromelia syndrome Malformation syndrome 50811 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=50811 Lipodystrophy-intellectual disability-deafness syndrome Disease 56304 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=56304 Atelosteogenesis type II Malformation syndrome 56305 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=56305 Atelosteogenesis type III Malformation syndrome 66625 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=66625 Cerebrooculonasal syndrome Malformation syndrome 66629 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=66629 Goldberg-Shprintzen megacolon syndrome Malformation syndrome 73246 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=73246 Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome Malformation syndrome 75389 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75389 Brain malformation-congenital heart disease-postaxial polydactyly syndrome Malformation syndrome 75496 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75496 B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome Clinical subtype 77299 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77299 Microphthalmia-brain atrophy syndrome Malformation syndrome 79094 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79094 Grange syndrome Malformation syndrome 79113 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79113 Mandibulofacial dysostosis-microcephaly syndrome Malformation syndrome 79156 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79156 Seizures-intellectual disability due to hydroxylysinuria syndrome Disease 83472 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83472 CAMOS syndrome Malformation syndrome 83617 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83617 Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome Malformation syndrome 85202 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85202 Keutel syndrome Malformation syndrome 88618 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88618 S-adenosylhomocysteine hydrolase deficiency Disease 94066 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94066 Severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia Malformation syndrome 96125 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96125 Distal deletion 6p syndrome Malformation syndrome 96169 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96169 Koolen-De Vries syndrome Malformation syndrome 363965 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363965 Koolen-De Vries syndrome due to a point mutation Etiological subtype 363958 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363958 17q21.31 microdeletion syndrome Etiological subtype 96263 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96263 48,XXXY syndrome Malformation syndrome 96264 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96264 49,XXXXY syndrome Malformation syndrome 97297 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97297 Bohring-Opitz syndrome Malformation syndrome 52055 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52055 Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome Malformation syndrome 85273 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85273 X-linked intellectual disability, Abidi type Malformation syndrome 85274 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85274 Syndromic X-linked intellectual disability 7 Malformation syndrome 85275 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85275 Microphthalmia-ankyloblepharon-intellectual disability syndrome Malformation syndrome 85276 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85276 X-linked intellectual disability, Armfield type Malformation syndrome 85278 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85278 Christianson syndrome Malformation syndrome 85279 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85279 KDM5C-related syndromic X-linked intellectual disability Malformation syndrome 85280 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85280 X-linked intellectual disability-cubitus valgus-dysmorphism syndrome Malformation syndrome 85282 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85282 MEHMO syndrome Malformation syndrome 85284 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85284 BRESEK syndrome Malformation syndrome 85285 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85285 X-linked intellectual disability, Schimke type Malformation syndrome 85286 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85286 X-linked intellectual disability, Shashi type Malformation syndrome 85287 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85287 X-linked intellectual disability, Siderius type Malformation syndrome 83473 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83473 Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome Malformation syndrome 79333 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79333 COG7-CDG Disease 85288 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85288 X-linked intellectual disability, Stocco Dos Santos type Malformation syndrome 85293 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85293 X-linked intellectual disability, Cabezas type Malformation syndrome 85297 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85297 X-linked spinocerebellar ataxia type 3 Malformation syndrome 85317 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85317 X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome Malformation syndrome 85319 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85319 X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome Malformation syndrome 85320 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85320 X-linked intellectual disability-macrocephaly-macroorchidism syndrome Malformation syndrome 85321 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85321 Deafness-intellectual disability syndrome, Martin-Probst type Malformation syndrome 85322 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85322 X-linked intellectual disability, Pai type Malformation syndrome 85323 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85323 X-linked intellectual disability, Seemanova type Disease 85324 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85324 X-linked intellectual disability, Shrimpton type Malformation syndrome 93473 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93473 Hurler syndrome Clinical subtype 85194 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85194 Spondylo-ocular syndrome Malformation syndrome 589442 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589442 Short stature-skeletal dysplasia-retinal degeneration-intellectual disability-sensorineural hearing loss syndrome Malformation syndrome 589856 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589856 Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome Malformation syndrome 1662 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1662 Restrictive dermopathy Disease 3338 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3338 Toriello-Carey syndrome Malformation syndrome 529962 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=529962 17q24.2 microdeletion syndrome Malformation syndrome 500159 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=500159 Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom Malformation syndrome 557003 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=557003 Oculoskeletodental syndrome Disease 500163 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=500163 Witteveen-Kolk syndrome Malformation syndrome 94065 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94065 15q24 microdeletion syndrome Etiological subtype 500166 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=500166 SIN3-related intellectual disability syndrome due to a point mutation Etiological subtype 500533 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=500533 Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome Disease 502430 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=502430 Weiss-Kruszka Syndrome Malformation syndrome 1236 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1236 Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome Malformation syndrome 1239 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1239 Behr syndrome Malformation syndrome 1964 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1964 Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome Malformation syndrome 2896 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2896 Pitt-Hopkins syndrome Malformation syndrome 2919 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2919 Orofaciodigital syndrome type 5 Malformation syndrome 502434 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=502434 STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome Malformation syndrome 2479 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2479 Megalocornea-intellectual disability syndrome Malformation syndrome 464306 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=464306 DYRK1A-related intellectual disability syndrome Malformation syndrome 268261 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268261 DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion Etiological subtype 464311 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=464311 Intellectual disability syndrome due to a DYRK1A point mutation Etiological subtype 464738 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=464738 Basel-Vanagaite-Smirin-Yosef syndrome Malformation syndrome 528 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=528 Congenital generalized lipodystrophy Disease 696289 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=696289 Congenital generalized lipodystrophy type 2 Clinical subtype 696242 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=696242 PPARG-associated congenital generalized lipodystrophy Clinical subtype 696206 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=696206 Congenital generalized lipodystrophy type 3 Clinical subtype 696189 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=696189 Congenital generalized lipodystrophy type 1 Clinical subtype 228429 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228429 Congenital generalized lipodystrophy type 4 Clinical subtype 475 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=475 Isolated Joubert syndrome Malformation syndrome 2512 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2512 Autosomal recessive primary microcephaly Etiological subtype 84 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=84 Fanconi anemia Malformation syndrome 2052 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2052 Fraser syndrome Malformation syndrome 1005 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1005 Alopecia-contractures-dwarfism-intellectual disability syndrome Malformation syndrome 72 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=72 Angelman syndrome Malformation syndrome 98794 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98794 Angelman syndrome due to maternal 15q11q13 deletion Etiological subtype 98795 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98795 Angelman syndrome due to paternal uniparental disomy of chromosome 15 Etiological subtype 411511 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=411511 Angelman syndrome due to a point mutation Etiological subtype 411515 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=411515 Angelman syndrome due to imprinting defect in 15q11-q13 Etiological subtype 904 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=904 Williams syndrome Malformation syndrome 576 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=576 Mucolipidosis type II Disease 783 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=783 Rubinstein-Taybi syndrome Malformation syndrome 353277 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=353277 Rubinstein-Taybi syndrome due to CREBBP mutations Etiological subtype 353281 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=353281 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion Etiological subtype 353284 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency Etiological subtype 199 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199 Cornelia de Lange syndrome Malformation syndrome 2162 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2162 Holoprosencephaly Malformation syndrome 93924 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93924 Lobar holoprosencephaly Clinical subtype 93925 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93925 Alobar holoprosencephaly Clinical subtype 93926 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93926 Midline interhemispheric variant of holoprosencephaly Clinical subtype 220386 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=220386 Semilobar holoprosencephaly Clinical subtype 280195 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280195 Septopreoptic holoprosencephaly Clinical subtype 1465 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1465 Coffin-Siris syndrome Malformation syndrome 819 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=819 Smith-Magenis syndrome Malformation syndrome 36 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=36 Acrocallosal syndrome Malformation syndrome 193 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=193 Cohen syndrome Malformation syndrome 235 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=235 Dubowitz syndrome Malformation syndrome 337 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=337 Fibrodysplasia ossificans progressiva Disease 502 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=502 Trichorhinophalangeal syndrome type 2 Malformation syndrome 239 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=239 Dyggve-Melchior-Clausen disease Disease 2377 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2377 Laurence-Moon syndrome Malformation syndrome 2983 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2983 Difference of sex development-intellectual disability syndrome Disease 3071 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3071 Costello syndrome Malformation syndrome 191 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=191 Cockayne syndrome Disease 1466 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1466 COFS syndrome Clinical subtype 90321 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90321 Cockayne syndrome type 1 Clinical subtype 90322 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90322 Cockayne syndrome type 2 Clinical subtype 90324 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90324 Cockayne syndrome type 3 Clinical subtype 1473 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1473 Uveal coloboma-cleft lip and palate-intellectual disability Malformation syndrome 10 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=10 48,XXYY syndrome Malformation syndrome 1308 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1308 C syndrome Malformation syndrome 1438 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1438 Ring chromosome 10 syndrome Malformation syndrome 1713 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1713 17p11.2 microduplication syndrome Malformation syndrome 1948 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1948 Epilepsy-microcephaly-skeletal dysplasia syndrome Malformation syndrome 1951 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1951 Epilepsy-telangiectasia syndrome Disease 7 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=7 3C syndrome Malformation syndrome 990 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=990 Agnathia-holoprosencephaly-situs inversus syndrome Malformation syndrome 1001 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1001 2q37 microdeletion syndrome Malformation syndrome 1184 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1184 Ataxia-photosensitivity-short stature syndrome Malformation syndrome 447980 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447980 19p13.3 microduplication syndrome Malformation syndrome 572333 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=572333 Blepharophimosis-ptosis-epicanthus inversus syndrome plus Malformation syndrome 576278 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=576278 SATB2-associated syndrome Malformation syndrome 251028 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251028 SATB2-associated syndrome due to a chromosomal rearrangement Etiological subtype 576283 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=576283 SATB2-associated syndrome due to a pathogenic variant Etiological subtype 3101 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3101 Richieri Costa-da Silva syndrome Malformation syndrome 466791 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466791 Macrocephaly-intellectual disability-left ventricular non compaction syndrome Malformation syndrome 2318 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2318 Joubert syndrome with oculorenal defect Malformation syndrome 2233 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2233 Hypogonadism-mitral valve prolapse-intellectual disability syndrome Disease 459061 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=459061 Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome Malformation syndrome 459070 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=459070 X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome Malformation syndrome 642763 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=642763 Autosomal dominant intellectual disability-craniofacial dysmorphism-macrocephaly-hypotonia syndrome due to H1-4 mutation Malformation syndrome 521258 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=521258 Xq25 microduplication syndrome Malformation syndrome 488434 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488434 Camptodactyly syndrome, Guadalajara type 3 Malformation syndrome 488618 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488618 Transketolase deficiency Malformation syndrome 488627 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488627 Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome Malformation syndrome 488632 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488632 TBCK-related encephalopathy-severe hypotonia-craniofacial dysmorphism syndrome Malformation syndrome 488642 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488642 TELO2-related intellectual disability-neurodevelopmental disorder Malformation syndrome 508488 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=508488 8q24.3 microdeletion syndrome Malformation syndrome 508498 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=508498 Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome Malformation syndrome 521426 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=521426 PLAA-associated neurodevelopmental disorder Malformation syndrome 1321 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1321 Camptodactyly-fibrous tissue hyperplasia-skeletal anomalies syndrome Malformation syndrome 2101 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2101 Grubben-de Cock-Borghgraef syndrome Malformation syndrome 166035 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166035 Brachydactyly-short stature-retinitis pigmentosa syndrome Malformation syndrome 494344 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=494344 RERE-related neurodevelopmental syndrome Malformation syndrome 3010 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3010 Qazi-Markouizos syndrome Disease 87 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=87 Apert syndrome Malformation syndrome 2523 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2523 Microcephaly-brain defect-spasticity-hypernatremia syndrome Malformation syndrome 192 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=192 Coffin-Lowry syndrome Malformation syndrome 568 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=568 Microphthalmia, Lenz type Malformation syndrome 3019 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3019 Ramon syndrome Malformation syndrome 1667 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1667 Wolcott-Rallison syndrome Disease 2514 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2514 Autosomal dominant primary microcephaly Etiological subtype 2701 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2701 Noonan syndrome-like disorder with loose anagen hair Malformation syndrome 1458 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1458 CODAS syndrome Malformation syndrome 1052 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1052 Mosaic variegated aneuploidy syndrome Malformation syndrome 3103 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3103 Roberts syndrome Malformation syndrome 3472 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3472 Yunis-Varon syndrome Malformation syndrome 2470 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2470 Matthew-Wood syndrome Malformation syndrome 2209 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2209 Maternal phenylketonuria syndrome Malformation syndrome 2792 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2792 Otofaciocervical syndrome Malformation syndrome 2662 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2662 Keipert syndrome Malformation syndrome 1947 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1947 Northern epilepsy Clinical subtype 2773 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2773 Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome Malformation syndrome 3085 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3085 Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome Malformation syndrome 1014 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1014 Alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome Disease 1110 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1110 Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome Malformation syndrome 1305 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1305 Feingold syndrome Malformation syndrome 391641 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391641 Feingold syndrome type 1 Clinical subtype 391646 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391646 Feingold syndrome type 2 Clinical subtype 1514 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1514 Craniodigital-intellectual disability syndrome Malformation syndrome 1532 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1532 Gómez-López-Hernández syndrome Malformation syndrome 1788 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1788 Acrofacial dysostosis, Rodríguez type Malformation syndrome 1809 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1809 Hidrotic ectodermal dysplasia, Halal type Malformation syndrome 1891 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1891 Intellectual disability-spasticity-ectrodactyly syndrome Malformation syndrome 1970 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1970 Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome Malformation syndrome 2136 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2136 Hennekam syndrome Malformation syndrome 2172 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2172 Microcephaly-glomerulonephritis-marfanoid habitus syndrome Malformation syndrome 2282 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2282 Dysmorphism-short stature-deafness-difference of sex development syndrome Malformation syndrome 2409 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2409 Lowry-MacLean syndrome Malformation syndrome 2429 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2429 Macrocephaly-spastic paraplegia-dysmorphism syndrome Malformation syndrome 2471 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2471 McDonough syndrome Malformation syndrome 2518 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2518 Autosomal recessive chorioretinopathy-microcephaly syndrome Malformation syndrome 2658 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2658 Lenz-Majewski hyperostotic dysplasia Malformation syndrome 3199 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3199 Stimmler syndrome Malformation syndrome 3433 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3433 Microcephaly-brachydactyly-kyphoscoliosis syndrome Malformation syndrome 3434 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3434 MMEP syndrome Malformation syndrome 3074 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3074 Intellectual disability-short stature-hypertelorism syndrome Malformation syndrome 373 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=373 Simpson-Golabi-Behmel syndrome Malformation syndrome 627 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=627 Nance-Horan syndrome Malformation syndrome 1520 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1520 Craniofrontonasal dysplasia Malformation syndrome 1812 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1812 Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome Malformation syndrome 353298 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=353298 Roifman syndrome Disease 709 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=709 Peters plus syndrome Malformation syndrome 468699 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=468699 SLC39A8-CDG Disease 352587 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352587 Focal epilepsy-intellectual disability-cerebro-cerebellar malformation Disease 456312 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=456312 Infantile multisystem neurologic-endocrine-pancreatic disease Disease 508542 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=508542 Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome Disease 562559 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=562559 Anterior maxillary protrusion-strabismus-intellectual disability syndrome Malformation syndrome 2135 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2135 Cutaneous mastocytosis-deafness-microtia syndrome Malformation syndrome 140 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140 Campomelic dysplasia Malformation syndrome 1358 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1358 Carey-Fineman-Ziter syndrome Malformation syndrome 1307 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1307 Distal limb deficiencies-micrognathia syndrome Malformation syndrome 1318 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1318 Campomelia, Cumming type Malformation syndrome 1517 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1517 Cantú syndrome Malformation syndrome 870 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=870 Down syndrome Malformation syndrome 2059 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2059 Fryns syndrome Malformation syndrome 2065 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2065 Galloway-Mowat syndrome Malformation syndrome 2166 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2166 Holoprosencephaly-postaxial polydactyly syndrome Malformation syndrome 2249 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2249 Ulna hypoplasia-intellectual disability syndrome Malformation syndrome 2315 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2315 Johanson-Blizzard syndrome Malformation syndrome 2323 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2323 Sanjad-Sakati syndrome Malformation syndrome 2324 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2324 Osteopenia-intellectual disability-sparse hair syndrome Malformation syndrome 2328 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2328 Kapur-Toriello syndrome Malformation syndrome 2463 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2463 Marfanoid habitus-autosomal recessive intellectual disability syndrome Malformation syndrome 2736 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2736 Lethal omphalocele-cleft palate syndrome Malformation syndrome 2865 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2865 Short stature-webbed neck-heart disease syndrome Malformation syndrome 2871 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2871 Pfeiffer-Palm-Teller syndrome Malformation syndrome 3186 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3186 Holoprosencephaly-radial heart renal anomalies syndrome Malformation syndrome 1272 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1272 Aymé-Gripp syndrome Malformation syndrome 71267 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71267 Dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome Malformation syndrome 73223 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=73223 Global developmental delay-osteopenia-ectodermal defect syndrome Malformation syndrome 73230 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=73230 Ossification anomalies-psychomotor developmental delay syndrome Disease 915 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=915 Aarskog-Scott syndrome Malformation syndrome 776 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=776 Lujan-Fryns syndrome Malformation syndrome 3121 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3121 Ruvalcaba syndrome Malformation syndrome 2898 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2898 X-linked intellectual disability-plagiocephaly syndrome Malformation syndrome 168624 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168624 Familial scaphocephaly syndrome, McGillivray type Malformation syndrome 171703 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171703 Microcephaly-polymicrogyria-corpus callosum agenesis syndrome Malformation syndrome 453499 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=453499 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome Malformation syndrome 352665 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352665 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion Etiological subtype 453504 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=453504 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation Etiological subtype 457284 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457284 Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome Malformation syndrome 464282 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=464282 Spastic paraplegia-severe developmental delay-epilepsy syndrome Disease 477817 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=477817 PMP22-RAI1 contiguous gene duplication syndrome Malformation syndrome 477993 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=477993 Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome Malformation syndrome 495818 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=495818 9q33.3q34.11 microdeletion syndrome Malformation syndrome 513456 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=513456 Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome Disease 589905 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589905 PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome Disease 1393 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1393 Cerebrocostomandibular syndrome Malformation syndrome 1296 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1296 Lambert syndrome Malformation syndrome 1495 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1495 Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome Malformation syndrome 1786 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1786 Acrofacial dysostosis, Catania type Malformation syndrome 2008 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2008 Acrocardiofacial syndrome Malformation syndrome 2031 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2031 Hepatic fibrosis-renal cysts-intellectual disability syndrome Malformation syndrome 2044 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2044 Floating-Harbor syndrome Malformation syndrome 2083 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2083 Prominent glabella-microcephaly-hypogenitalism syndrome Malformation syndrome 2090 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2090 GMS syndrome Malformation syndrome 2278 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2278 Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome Malformation syndrome 2515 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2515 Microcephaly-cardiomyopathy syndrome Malformation syndrome 2608 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2608 N syndrome Malformation syndrome 2673 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2673 Neurofaciodigitorenal syndrome Malformation syndrome 2743 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2743 Ophthalmoplegia-intellectual disability-lingua scrotalis syndrome Malformation syndrome 2751 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2751 Orofaciodigital syndrome type 2 Malformation syndrome 2753 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2753 Orofaciodigital syndrome type 4 Malformation syndrome 2754 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2754 Orofaciodigital syndrome type 6 Malformation syndrome 2776 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2776 Autosomal recessive distal osteolysis syndrome Malformation syndrome 2788 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2788 Osteoporosis-pseudoglioma syndrome Disease 2798 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2798 Pachygyria-intellectual disability-epilepsy syndrome Malformation syndrome 3219 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3219 Fountain syndrome Malformation syndrome 3404 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3404 Ulbright-Hodes syndrome Malformation syndrome 3455 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3455 Wiedemann-Rautenstrauch syndrome Malformation syndrome 2519 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2519 Microcephaly-seizures-intellectual disability-heart disease syndrome Malformation syndrome 1383 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1383 Cataract-deafness-hypogonadism syndrome Malformation syndrome 1826 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1826 Frontometaphyseal dysplasia Disease 2092 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2092 Focal dermal hypoplasia Malformation syndrome 2712 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2712 Oculofaciocardiodental syndrome Malformation syndrome 2750 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2750 Orofaciodigital syndrome type 1 Malformation syndrome 3055 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3055 X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome Malformation syndrome 3063 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3063 X-linked intellectual disability, Snyder type Disease 3412 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3412 VACTERL with hydrocephalus Malformation syndrome 3459 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3459 Wilson-Turner syndrome Malformation syndrome 300573 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300573 Polymicrogyria due to TUBB2B mutation Malformation syndrome 457279 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457279 Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome Malformation syndrome 457365 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457365 Intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome Malformation syndrome 457485 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457485 Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome Malformation syndrome 476126 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=476126 Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome Malformation syndrome 529965 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=529965 Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome Malformation syndrome 530983 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=530983 Lamb-Shaffer syndrome Disease 313892 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=313892 Developmental and speech delay due to SOX5 deficiency Clinical subtype 313884 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=313884 12p12.1 microdeletion syndrome Clinical subtype 544469 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=544469 PRUNE1-related neurological syndrome Malformation syndrome 544488 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=544488 Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome Disease 562569 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=562569 TMEM94-associated congenital heart defect-facial dysmorphism-developmental delay syndrome Malformation syndrome 592574 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=592574 Menke-Hennekam syndrome Malformation syndrome 597743 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=597743 SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome Malformation syndrome 603684 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=603684 KLHL7-related Bohring-Opitz-like and Crisponi/Cold-induced sweating-like overlap syndrome Malformation syndrome 813 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=813 Silver-Russell syndrome Disease 231137 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231137 Silver-Russell syndrome due to 7p11.2p13 microduplication Etiological subtype 231147 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231147 Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11 Etiological subtype 231140 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231140 Silver-Russell syndrome due to an imprinting defect of 11p15 Etiological subtype 96182 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96182 Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 Etiological subtype 397590 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397590 Silver-Russell syndrome due to a point mutation Etiological subtype 231144 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231144 Silver-Russell syndrome due to 11p15 microduplication Etiological subtype 821 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=821 Sotos syndrome Disease 1790 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1790 Hypomandibular faciocranial dysostosis Malformation syndrome 2180 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2180 Hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome Malformation syndrome 2306 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2306 Isotretinoin-like syndrome Malformation syndrome 561 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=561 Marshall-Smith syndrome Malformation syndrome 494439 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=494439 Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome Malformation syndrome 598603 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=598603 Facial dysmorphism-hypertrichosis-epilepsy-intellectual disability/developmental delay-gingival overgrowth syndrome Malformation syndrome 603689 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=603689 KLHL7-related Bohring-Opitz-like syndrome Malformation syndrome 611247 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=611247 Pontocerebellar hypoplasia type 11 Malformation syndrome 611207 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=611207 Spondyloepiphyseal dysplasia-sensorineural hearing loss-intellectual disability-Leber congenital amaurosis syndrome Clinical syndrome 611201 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=611201 Oculogastrointestinal-neurodevelopmental syndrome Malformation syndrome 610569 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=610569 KIAA1109-related early lethal congenital brain malformations-arthrogryposis syndrome Disease 280 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280 Wolf-Hirschhorn syndrome Malformation syndrome 893 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=893 WAGR syndrome Malformation syndrome 3078 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3078 Severe X-linked intellectual disability, Gustavson type Malformation syndrome 480880 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480880 X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability Malformation syndrome 459074 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=459074 Corpus callosum agenesis-macrocephaly-hypertelorism syndrome Malformation syndrome 464288 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=464288 Short stature-brachydactyly-obesity-global developmental delay syndrome Malformation syndrome 466688 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466688 Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome Malformation syndrome 487796 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=487796 Takenouchi-Kosaki syndrome Malformation syndrome 500095 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=500095 Tall stature-intellectual disability-renal anomalies syndrome Malformation syndrome 506307 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=506307 Stromme syndrome Malformation syndrome 565858 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=565858 Craniosynostosis-microretrognathia-severe intellectual disability syndrome Malformation syndrome 2710 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2710 Oculodentodigital dysplasia Malformation syndrome 2326 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2326 Kallmann syndrome-heart disease syndrome Malformation syndrome 502437 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=502437 4q25 proximal deletion syndrome Malformation syndrome 1252 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1252 Blepharonasofacial malformation syndrome Malformation syndrome 1394 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1394 Cerebrofaciothoracic dysplasia Malformation syndrome 1548 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1548 Cryptorchidism-arachnodactyly-intellectual disability syndrome Malformation syndrome 2117 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2117 Hartsfield syndrome Malformation syndrome 1051 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1051 Ramos-Arroyo syndrome Malformation syndrome 2528 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2528 Microcephaly-microcornea syndrome, Seemanova type Malformation syndrome 3044 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3044 Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome Malformation syndrome 3079 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3079 Intellectual disability, Buenos-Aires type Malformation syndrome 3363 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3363 Trichomegaly-retina pigmentary degeneration-dwarfism syndrome Malformation syndrome 3409 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3409 Urban-Rogers-Meyer syndrome Malformation syndrome 3473 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3473 Zimmermann-Laband syndrome Malformation syndrome 1130 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1130 Arachnodactyly-intellectual disability-dysmorphism syndrome Malformation syndrome 1762 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1762 Proximal Xq28 duplication syndrome Malformation syndrome 1568 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1568 X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome Malformation syndrome 2804 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2804 W syndrome Malformation syndrome 3052 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3052 X-linked intellectual disability-seizures-psoriasis syndrome Disease 3242 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3242 Renpenning syndrome Malformation syndrome 93945 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93945 X-linked intellectual disability, Porteous type Clinical subtype 93946 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93946 Hamel cerebro-palato-cardiac syndrome Clinical subtype 93947 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93947 X-linked intellectual disability, Golabi-Ito-Hall type Clinical subtype 93950 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93950 X-linked intellectual disability, Sutherland-Haan type Clinical subtype 3369 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3369 Trigonocephaly-short stature-developmental delay syndrome Malformation syndrome 228402 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228402 2q23.1 microdeletion syndrome Malformation syndrome 261323 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261323 21q22.11q22.12 microdeletion syndrome Malformation syndrome 457359 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457359 Megalencephaly-severe kyphoscoliosis-overgrowth syndrome Malformation syndrome 480898 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480898 Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome Disease 505248 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=505248 Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders Malformation syndrome 506358 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=506358 Gabriele-de Vries syndrome Malformation syndrome 556955 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=556955 Pancreatic agenesis-holoprosencephaly syndrome Disease 580940 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=580940 QRICH1-related intellectual disability-chondrodysplasia syndrome Malformation syndrome 589435 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589435 Spondylometaphyseal dysplasia-corneal dystrophy syndrome Malformation syndrome 1553 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1553 Curry-Jones syndrome Malformation syndrome 672 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=672 Pallister-Hall syndrome Malformation syndrome 2863 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2863 Short stature-wormian bones-dextrocardia syndrome Malformation syndrome 228410 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228410 Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome Malformation syndrome 664404 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=664404 6q25.1 microdeletion syndrome Etiological subtype 664401 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=664401 Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome due to TAB2 mutation Etiological subtype 1340 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1340 Cardiofaciocutaneous syndrome Malformation syndrome 1388 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1388 Catel-Manzke syndrome Malformation syndrome 1512 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1512 Crane-Heise syndrome Malformation syndrome 1825 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1825 Epiphyseal dysplasia-hearing loss-dysmorphism syndrome Malformation syndrome 1858 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1858 Skeletal dysplasia-epilepsy-short stature syndrome Malformation syndrome 1816 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1816 Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome Malformation syndrome 2067 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2067 GAPO syndrome Malformation syndrome 2234 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2234 Male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome Malformation syndrome 2521 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2521 Microcephaly-cleft palate-abnormal retinal pigmentation syndrome Malformation syndrome 2707 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2707 Oculocerebrofacial syndrome, Kaufman type Malformation syndrome 2719 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2719 Oculocerebral hypopigmentation syndrome, Cross type Malformation syndrome 2920 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2920 Oliver syndrome Malformation syndrome 2985 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2985 Pseudoprogeria syndrome Malformation syndrome 3255 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3255 Filippi syndrome Malformation syndrome 3270 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3270 Radioulnar synostosis-developmental delay-hypotonia syndrome Malformation syndrome 1277 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1277 Brachydactyly-mesomelia-intellectual disability-heart defects syndrome Malformation syndrome 3082 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3082 Intellectual disability-polydactyly-uncombable hair syndrome Malformation syndrome 847 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=847 X-linked alpha-thalassemia-intellectual disability syndrome Malformation syndrome 127 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=127 Borjeson-Forssman-Lehmann syndrome Malformation syndrome 2745 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2745 Opitz GBBB syndrome Malformation syndrome 480907 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480907 X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome Malformation syndrome 457193 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457193 KAT6-related intellectual disability-craniofacial anomalies-cardiac defects syndrome Malformation syndrome 457205 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457205 Infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome Disease 457212 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457212 Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome Disease 487825 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=487825 Pierpont syndrome Malformation syndrome 500144 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=500144 Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome Malformation syndrome 597749 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=597749 KAT6B-related multiple congenital anomalies syndrome Clinical group 3047 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3047 Blepharophimosis-intellectual disability syndrome, SBBYS type Malformation syndrome 85201 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85201 Genitopatellar syndrome Malformation syndrome 597746 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=597746 Blepharophimosis-intellectual disability syndrome/genitopatellar overlap syndrome Malformation syndrome 600668 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=600668 CCNK-related neurodevelopmental disorder-severe intellectual disability-facial dysmorphism syndrome Disease 648 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=648 Noonan syndrome Malformation syndrome 1292 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1292 Brachymorphism-onychodysplasia-dysphalangism syndrome Malformation syndrome 110 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=110 Bardet-Biedl syndrome Disease 1493 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1493 Vici syndrome Malformation syndrome 912 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=912 Zellweger syndrome Disease 1827 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1827 Acromelic frontonasal dysplasia Malformation syndrome 647 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=647 Nijmegen breakage syndrome Malformation syndrome 2886 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2886 TARP syndrome Malformation syndrome 1496 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1496 Corpus callosum agenesis-neuronopathy syndrome Disease 974 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=974 Adams-Oliver syndrome Malformation syndrome 684216 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=684216 Intellectual disability-facial dysmorphism-joint hypermobility-hearing loss syndrome Malformation syndrome 684742 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=684742 2q13 microdeletion syndrome Malformation syndrome 613267 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=613267 Pontocerebellar hypoplasia type 13 Malformation syndrome 613274 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=613274 Pontocerebellar hypoplasia type 14 Malformation syndrome 684226 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=684226 Intellectual disability-hypotonia-facial dysmorphism-macrocephaly syndrome Malformation syndrome 687695 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=687695 10p13-p14 deletion syndrome Malformation syndrome 694937 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=694937 Intellectual disability-peripheral neuropathy-corpus callosum abnormalities syndrome due to nudix hydrolase 2 deficiency Malformation syndrome 686482 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=686482 BPTF-related intellectual disability-facial dysmorphism-skeletal anomalies syndrome Malformation syndrome 686488 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=686488 RNU4-2-related autosomal dominant neurodevelopmental disorder Malformation syndrome 686495 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=686495 MADD-related developmental delay-endocrine dysfunction-hypohemoglobinemia syndrome Disease 685017 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=685017 Combined immunodeficiency due to TBX1 deficiency Disease 688642 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=688642 Turnpenny-Fry syndrome Malformation syndrome 689422 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=689422 Okur-Chung neurodevelopmental syndrome Malformation syndrome 689397 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=689397 Poirier-Bienvenu neurodevelopmental syndrome Malformation syndrome 689829 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=689829 Microphthalmia-motor delay-language delay-brain anomalies-diaphragmatic hernia syndrome Disease 689408 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=689408 Shashi-Pena syndrome Malformation syndrome 695611 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=695611 3q26q28 deletion syndrome Malformation syndrome 692193 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=692193 CHAMP1-related intellectual disability-facial dysmorphism-behavioral abnormalities syndrome Malformation syndrome 694304 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=694304 ZMYND11-related developmental delay-speech delay-seizures-behavioral abnormalities-craniofacial dysmorphism syndrome Disease 687424 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=687424 ZMYND11-related developmental delay-speech delay-seizures-behavioral abnormalities-craniofacial dysmorphism syndrome due to 10p15.3 microdeletion Etiological subtype 694308 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=694308 ZMYND11-related developmental delay-speech delay-seizures-behavioral abnormalities-craniofacial dysmorphism syndrome due to a point mutation Etiological subtype 693549 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=693549 Facial dysmorphism-Intellectual disability-rhombencephalosynapsis syndrome Malformation syndrome 694956 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=694956 Intellectual disability-lymphoid hypertrophy-macrocephaly syndrome Malformation syndrome 694946 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=694946 Alazami-Yuan syndrome Malformation syndrome 697760 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=697760 Intellectual disability-nasal speech-craniofacial dysmorphism syndrome Malformation syndrome 289513 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289513 12q15q21 microdeletion syndrome Etiological subtype 697764 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=697764 Intellectual disability-nasal speech-craniofacial dysmorphism syndrome due to CNOT2 mutation Etiological subtype 697067 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=697067 Global developmental delay-intellectual disability-microcephaly-short stature-brain iron accumulation syndrome Malformation syndrome 698085 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=698085 Global developmental delay-intellectual disability-facial dysmorphism-pseudo-Pelger-Huët anomaly syndrome Malformation syndrome 698090 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=698090 Ophthalmological abnormalities-facial dysmorphism-intellectual disability syndrome Malformation syndrome 699835 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699835 Cataract-combined malonic and methylmalonic aciduria-intellectual disability syndrome Malformation syndrome 699844 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699844 Microcephaly-corpus callosum hypoplasia-simplified gyral pattern-intellectual disability syndrome Malformation syndrome 700325 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700325 NKAP-related intellectual disability-facial dysmorphism-marfanoid habitus-scoliosis syndrome Malformation syndrome 697356 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=697356 Congenital scalp aplasia cutis-enamel hypoplasia-developmental delay-intellectual disability syndrome Malformation syndrome 619233 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=619233 Hereditary persistence of fetal hemoglobin-intellectual disability syndrome Disease 659975 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=659975 Sensorineural hearing loss-spastic quadriplegia-intellectual disability syndrome Malformation syndrome 659904 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=659904 Multiple congenital anomalies-neurodevelopmental delay-ocular abnormalities syndrome Malformation syndrome 660021 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=660021 Orofacial clefting-cardiac anomalies-facial dysmorphism syndrome Malformation syndrome 662762 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=662762 Motor delay-microcephaly-speech impairment-ocular abnormalities syndrome Malformation syndrome 662175 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=662175 Macrocephaly-congenital heart disease-facial dysmorphism-intellectual disability syndrome Malformation syndrome 662179 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=662179 Microcephaly-hearing loss-facial dysmorphism-intellectual disability syndrome Malformation syndrome 675775 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=675775 Severe congenital myelofibrosis-pancytopenia-intellectual disability-neurologic and ophthalmic abnormalities syndrome Disease 675782 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=675782 Progressive hypotonia-intellectual disability-facial dysmorphism syndrome due to FYVE-defective RBSN Disease 664410 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=664410 Brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome Malformation syndrome 228384 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228384 5q14.3 microdeletion syndrome Etiological subtype 664416 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=664416 Brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome due to MEF2C mutation Etiological subtype 664438 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=664438 Gingival fibromatosis-aortic root dilatation-facial dysmorphism-intellectual disability syndrome Malformation syndrome 664430 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=664430 Neurodevelopmental disorder-slit-like lateral ventricles-intellectual disability syndrome Malformation syndrome 664923 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=664923 Congenital arthrogryposis-microcephaly-facial dysmorphism-severe neurodevelopmental delay syndrome Malformation syndrome 646278 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=646278 CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome Disease 633004 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=633004 KDM3B-related intellectual disability-facial dysmorphism-short stature syndrome Disease 633035 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=633035 Intellectual disability-early-onset cataract-microcephaly syndrome Malformation syndrome 632603 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=632603 Mesomelic dysplasia-digital anomalies-intellectual disability syndrome Malformation syndrome 662829 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=662829 Intellectual disability-speech delay-dysmorphic features-T cell abnormalities syndrome Disease 642675 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=642675 CHD8 overgrowth syndrome Disease 652519 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=652519 Cleft palate-congenital heart defect-intellectual disability syndrome Disease 652514 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=652514 Cleft palate-congenital heart defect-intellectual disability syndrome due to MEIS2 mutation Clinical subtype 261190 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261190 Cleft palate-congenital heart defect-intellectual disability syndrome due to 15q14 microdeletion Clinical subtype 653712 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=653712 CHD4-related neurodevelopmental disorder Disease 653767 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=653767 Jansen-de Vries syndrome Disease 656135 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=656135 Intellectual disability-cupped ears syndrome Disease 656130 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=656130 PBX1-related congenital anomalies of kidney-urinary tract syndrome Disease 658540 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=658540 16q22 deletion syndrome Malformation syndrome 658843 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=658843 Developmental delay-ataxia-hypotonia-facial dysmorphism syndrome Malformation syndrome 659702 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=659702 Intrauterine growth retardation-micrognathia-short stature-facial dysmorphism-rhizomelic shortening syndrome Malformation syndrome 662189 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=662189 Neurodevelopmental disorder-brain malformation-facial dysmorphism-brachydactyly syndrome Malformation syndrome 662198 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=662198 Neurodevelopmental delay-intellectual disability-skeletal defects syndrome Malformation syndrome 662207 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=662207 Neurodevelopmental delay-brain malformations-skeletal defects-intellectual disability syndrome Malformation syndrome 662234 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=662234 Neurodevelopmental delay-congenital heart defects-intellectual disability syndrome Malformation syndrome 659387 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=659387 PRC-2 complex-related overgrowth spectrum Clinical group 659396 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=659396 Cohen-Gibson syndrome Malformation syndrome 3447 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3447 Weaver syndrome Malformation syndrome 659463 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=659463 Imagawa-Matsumoto syndrome Malformation syndrome 659642 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=659642 Rauch-Steindl syndrome Malformation syndrome 659609 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=659609 Facial dysmorphism-global developmental delay-hypotonia-polymicrogyria syndrome Malformation syndrome 684305 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=684305 Neurooculocardiogenitourinary syndrome Disease 684232 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=684232 Intellectual disability-epilepsy-dental anomalies-facial dysmorphism syndrome Malformation syndrome 950 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=950 Acrodysostosis Malformation syndrome 1064 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1064 Aniridia-renal agenesis-psychomotor retardation syndrome Malformation syndrome 1067 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1067 Aniridia-ptosis-intellectual disability-familial obesity syndrome Malformation syndrome 1068 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1068 Aniridia-intellectual disability syndrome Malformation syndrome 1229 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1229 Pseudo-TORCH syndrome type 1 Malformation syndrome 1299 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1299 Branchioskeletogenital syndrome Malformation syndrome 1399 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1399 Richards-Rundle syndrome Malformation syndrome 1484 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1484 Contractures-ectodermal dysplasia-cleft lip/palate syndrome Malformation syndrome 2152 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2152 Mowat-Wilson syndrome Malformation syndrome 261537 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261537 Mowat-Wilson syndrome due to monosomy 2q22 Etiological subtype 261552 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261552 Mowat-Wilson syndrome due to a ZEB2 point mutation Etiological subtype 2617 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2617 Microcephalic primordial dwarfism, Montreal type Malformation syndrome 2872 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2872 Cardiocranial syndrome, Pfeiffer type Malformation syndrome 3041 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3041 Intellectual disability-balding-patella luxation-acromicria syndrome Malformation syndrome 3042 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3042 Intellectual disability-cataracts-calcified pinnae-myopathy syndrome Malformation syndrome 3293 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3293 Telecanthus-hypertelorism-strabismus-pes cavus syndrome Malformation syndrome 2015 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2015 Cleft palate-short stature-vertebral anomalies syndrome Malformation syndrome 2427 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2427 Macrocephaly-short stature-paraplegia syndrome Malformation syndrome 3207 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3207 White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome Malformation syndrome 94063 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94063 12q14 microdeletion syndrome Malformation syndrome 908 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=908 Fragile X syndrome Malformation syndrome 1131 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1131 X-linked mandibulofacial dysostosis Malformation syndrome 1436 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1436 X-linked skeletal dysplasia-intellectual disability syndrome Malformation syndrome 2988 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2988 Pterygium colli-intellectual disability-digital anomalies syndrome Malformation syndrome 3080 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3080 Intellectual disability, Wolff type Malformation syndrome 798 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=798 Schinzel-Giedion syndrome Malformation syndrome 3164 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3164 Omphalocele syndrome, Shprintzen-Goldberg type Malformation syndrome 3177 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3177 Spinocerebellar degeneration-corneal dystrophy syndrome Malformation syndrome 3304 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3304 Fallot complex-intellectual disability-growth delay syndrome Malformation syndrome 3448 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3448 Weaver-Williams syndrome Malformation syndrome 2058 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2058 Fryns-Smeets-Thiry syndrome Malformation syndrome 3051 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3051 Nicolaides-Baraitser syndrome Malformation syndrome 1123 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1123 Caudal appendage-deafness syndrome Malformation syndrome 1193 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1193 Atkin-Flaitz syndrome Malformation syndrome 3454 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3454 Wieacker-Wolff syndrome Malformation syndrome 457240 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457240 X-linked intellectual disability-short stature-overweight syndrome Malformation syndrome 456298 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=456298 1p35.2 microdeletion syndrome Malformation syndrome 457395 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457395 Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome Malformation syndrome 466943 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466943 WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome Malformation syndrome 284169 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284169 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion Clinical subtype 466950 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466950 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation Clinical subtype 468678 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=468678 White-Sutton syndrome Disease 485405 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=485405 16p12.1p12.3 triplication syndrome Malformation syndrome 505237 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=505237 Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome Malformation syndrome 508533 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=508533 Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome Disease 529665 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=529665 Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome Malformation syndrome 597738 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=597738 Luscan-Lumish syndrome Malformation syndrome 600731 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=600731 Clark-Baraitser syndrome Malformation syndrome 603448 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=603448 Cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome Malformation syndrome 138 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=138 CHARGE syndrome Malformation syndrome 567 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=567 22q11.2 deletion syndrome Malformation syndrome 739 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=739 Prader-Willi syndrome Disease 98754 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98754 Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 Etiological subtype 98793 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98793 Prader-Willi syndrome due to paternal 15q11q13 deletion Etiological subtype 177901 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=177901 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 Etiological subtype 177904 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=177904 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 Etiological subtype 177907 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=177907 Prader-Willi syndrome due to translocation Etiological subtype 177910 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=177910 Prader-Willi syndrome due to imprinting mutation Etiological subtype 570 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=570 Moebius syndrome Disease 920 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=920 Ablepharon macrostomia syndrome Malformation syndrome 989 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=989 Hypoglossia-hypodactyly syndrome Malformation syndrome 1300 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1300 Autosomal dominant popliteal pterygium syndrome Malformation syndrome 1454 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1454 Joubert syndrome with hepatic defect Disease 2143 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2143 Donnai-Barrow syndrome Malformation syndrome 2557 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2557 Mietens syndrome Malformation syndrome 3138 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3138 Ulnar-mammary syndrome Malformation syndrome 3163 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3163 SHORT syndrome Malformation syndrome 2538 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2538 Microgastria-limb reduction defect syndrome Malformation syndrome 1261 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1261 Bonnemann-Meinecke-Reich syndrome Malformation syndrome 1389 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1389 Cortical blindness-intellectual disability-polydactyly syndrome Malformation syndrome 1777 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1777 Temtamy syndrome Malformation syndrome 1973 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1973 Faciocardiorenal syndrome Malformation syndrome 2107 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2107 Hall-Riggs syndrome Malformation syndrome 2108 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2108 Hallermann-Streiff syndrome Malformation syndrome 2109 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2109 Hallermann-Streiff-like syndrome Malformation syndrome 2261 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2261 Hypospadias-intellectual disability, Goldblatt type syndrome Malformation syndrome 2266 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2266 Hypotrichosis-intellectual disability, Lopes type Disease 2316 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2316 Johnson neuroectodermal syndrome Malformation syndrome 2461 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2461 Marden-Walker syndrome Malformation syndrome 2522 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2522 Microcephaly-cervical spine fusion anomalies syndrome Malformation syndrome 2533 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2533 Microcephaly-deafness-intellectual disability syndrome Malformation syndrome 1488 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1488 Cooper-Jabs syndrome Malformation syndrome 1078 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1078 Thumb stiffness-brachydactyly-intellectual disability syndrome Malformation syndrome 109 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=109 Bannayan-Riley-Ruvalcaba syndrome Clinical subtype 1270 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1270 Bowen-Conradi syndrome Malformation syndrome 1355 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1355 Congenital heart defect-round face-developmental delay syndrome Malformation syndrome 1387 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1387 Cataract-intellectual disability-hypogonadism syndrome Malformation syndrome 2115 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2115 Harrod syndrome Malformation syndrome 2139 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2139 Hernández-Aguirre Negrete syndrome Malformation syndrome 2149 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2149 Nodular neuronal heterotopia Morphological anomaly 98892 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98892 Periventricular nodular heterotopia Clinical subtype 101029 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101029 Sub-cortical nodular heterotopia Clinical subtype 101030 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101030 Subependymal nodular heterotopia Clinical subtype 2213 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2213 Hypertelorism-microtia-facial clefting syndrome Malformation syndrome 2322 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2322 Kabuki syndrome Malformation syndrome 2332 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2332 KBG syndrome Malformation syndrome 2462 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2462 Shprintzen-Goldberg syndrome Malformation syndrome 2489 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2489 Upper limb defect-eye and ear abnormalities syndrome Malformation syndrome 2502 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2502 Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome Malformation syndrome 2511 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2511 Microbrachycephaly-ptosis-cleft lip syndrome Malformation syndrome 2588 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2588 Myhre syndrome Malformation syndrome 2714 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2714 Oculo-palato-cerebral syndrome Malformation syndrome 2715 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2715 Severe oculo-renal-cerebellar syndrome Malformation syndrome 2720 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2720 Oculocerebral hypopigmentation syndrome, Preus type Malformation syndrome 2921 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2921 Preaxial polydactyly-colobomata-intellectual disability syndrome Malformation syndrome 2928 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2928 Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome Malformation syndrome 2962 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2962 De Barsy syndrome Disease 35664 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35664 ALDH18A1-related De Barsy syndrome Etiological subtype 293633 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293633 PYCR1-related De Barsy syndrome Etiological subtype 3038 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3038 Delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome Malformation syndrome 3132 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3132 Say-Barber-Miller syndrome Malformation syndrome 3224 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3224 Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome Malformation syndrome 3231 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3231 Deafness-onychodystrophy syndrome Clinical group 79499 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79499 Autosomal dominant deafness-onychodystrophy syndrome Malformation syndrome 79500 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79500 DOORS syndrome Malformation syndrome 1778 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1778 Facial dysmorphism-shawl scrotum-joint laxity syndrome Malformation syndrome 1129 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1129 Arachnodactyly-abnormal ossification-intellectual disability syndrome Malformation syndrome 2824 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2824 Paraplegia-intellectual disability-hyperkeratosis syndrome Malformation syndrome 2339 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2339 Keratosis follicularis-dwarfism-cerebral atrophy syndrome Malformation syndrome 2556 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2556 Microphthalmia with linear skin defects syndrome Malformation syndrome 2958 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2958 X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome Malformation syndrome 3134 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3134 SCARF syndrome Malformation syndrome 93932 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93932 FG syndrome type 1 Disease 495875 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=495875 Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome Malformation syndrome 500150 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=500150 ZTTK syndrome Malformation syndrome 544503 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=544503 RNF13-related severe early-onset epileptic encephalopathy Disease 562528 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=562528 Congenital limbs-face contractures-hypotonia-developmental delay syndrome Malformation syndrome 592570 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=592570 TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome Malformation syndrome 599082 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=599082 CHD3-related developmental delay-speech delay-intellectual disability-abnormalities of vision-facial dysmorphism syndrome Malformation syndrome 1106 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1106 Microphthalmia with limb anomalies Malformation syndrome 83 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83 Antley-Bixler syndrome Malformation syndrome 596008 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=596008 Antley-Bixler syndrome without genital anomaly or disorder of steroidogenesis Clinical subtype 63269 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=63269 Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis Clinical subtype 528084 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=528084 Non-specific syndromic intellectual disability Disease 98010 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98010 Infectious disease of the nervous system Category 2912 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2912 Poliomyelitis Disease 3299 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3299 Tetanus Disease 770 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=770 Rabies Disease 33475 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33475 Meningococcal meningitis Disease 55655 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=55655 Pneumococcal meningitis Disease 98252 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98252 Infectious encephalitis Category 324625 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324625 Chikungunya Disease 1930 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1930 Herpes simplex virus encephalitis Disease 297 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=297 Tick-borne encephalitis Disease 79139 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79139 Japanese encephalitis Disease 83476 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83476 West-Nile encephalitis Disease 83482 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83482 Mycoplasma encephalitis Disease 83483 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83483 La Crosse encephalitis Disease 83484 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83484 St. Louis encephalitis Disease 83593 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83593 Western equine encephalitis Disease 83594 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83594 Eastern equine encephalitis Disease 83595 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83595 Colorado tick fever Disease 83616 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83616 Rubella panencephalitis Disease 99825 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99825 Nipah virus disease Disease 217260 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217260 Progressive multifocal leukoencephalopathy Disease 263524 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263524 Acute necrotizing encephalopathy of childhood Disease 324632 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324632 Hendra virus infection Disease 637051 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=637051 Borna virus encephalitis Disease 98255 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98255 Chronic encephalitis Category 1929 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1929 Rasmussen subacute encephalitis Disease 83600 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83600 Encephalitis lethargica Disease 2806 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2806 Subacute sclerosing leukoencephalitis Disease 83616 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83616 Rubella panencephalitis Disease 289326 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289326 Tropical spastic paraparesis Disease 641396 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=641396 Central nervous system tuberculosis Disease 98022 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98022 Rare headache Category 569 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=569 Familial or sporadic hemiplegic migraine Disease 157843 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157843 Trigeminal autonomic cephalalgia Clinical group 57145 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=57145 SUNCT syndrome Disease 157835 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157835 Paroxysmal hemicrania Disease 443070 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443070 Hemicrania continua Disease 276429 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276429 Hypnic headache Disease 284388 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284388 Reversible cerebral vasoconstriction syndrome Clinical syndrome 443180 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443180 Spontaneous intracranial hypotension Disease 692271 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=692271 Cerebral proliferative angiopathy Disease 353253 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=353253 Burning mouth syndrome Disease 98033 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98033 Rare neurologic disease with psychiatric involvement Category 273 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=273 Steinert myotonic dystrophy Disease 589824 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589824 Childhood-onset Steinert myotonic dystrophy Clinical subtype 589827 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589827 Juvenile-onset Steinert myotonic dystrophy Clinical subtype 589830 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589830 Adult-onset Steinert myotonic dystrophy Clinical subtype 589833 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589833 Late-onset Steinert myotonic dystrophy Clinical subtype 589821 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589821 Congenital-onset Steinert myotonic dystrophy Clinical subtype 72 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=72 Angelman syndrome Malformation syndrome 98794 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98794 Angelman syndrome due to maternal 15q11q13 deletion Etiological subtype 98795 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98795 Angelman syndrome due to paternal uniparental disomy of chromosome 15 Etiological subtype 411511 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=411511 Angelman syndrome due to a point mutation Etiological subtype 411515 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=411515 Angelman syndrome due to imprinting defect in 15q11-q13 Etiological subtype 567 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=567 22q11.2 deletion syndrome Malformation syndrome 905 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=905 Wilson disease Disease 739 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=739 Prader-Willi syndrome Disease 98754 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98754 Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 Etiological subtype 98793 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98793 Prader-Willi syndrome due to paternal 15q11q13 deletion Etiological subtype 177901 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=177901 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 Etiological subtype 177904 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=177904 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 Etiological subtype 177907 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=177907 Prader-Willi syndrome due to translocation Etiological subtype 177910 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=177910 Prader-Willi syndrome due to imprinting mutation Etiological subtype 904 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=904 Williams syndrome Malformation syndrome 89043 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=89043 Rare dementia Category 1980 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1980 Bilateral striopallidodentate calcinosis Disease 85292 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85292 X-linked spinocerebellar ataxia type 4 Disease 97353 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97353 Dementia pugilistica Disease 97355 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97355 Caribbean parkinsonism Disease 98534 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98534 Neurodegenerative disease with dementia Category 2289 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2289 Neuronal intranuclear inclusion disease Disease 54247 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=54247 Posterior cortical atrophy Disease 399 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=399 Huntington disease Disease 1020 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1020 Early-onset autosomal dominant Alzheimer disease Disease 90020 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90020 Parkinson-dementia complex of Guam Disease 95432 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95432 Primary progressive aphasia Clinical group 100069 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100069 Semantic dementia Disease 100070 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100070 Progressive non-fluent aphasia Disease 250831 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=250831 Logopenic progressive aphasia Disease 98535 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98535 Frontotemporal degeneration with dementia Clinical group 683 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=683 Progressive supranuclear palsy Disease 99750 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99750 Atypical progressive supranuclear palsy syndrome Clinical subtype 240085 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=240085 Progressive supranuclear palsy-predominant parkinsonism syndrome Clinical subtype 240094 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=240094 Progressive supranuclear palsy-pure akinesia with gait freezing syndrome Clinical subtype 240103 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=240103 Progressive supranuclear palsy-corticobasal syndrome Clinical subtype 240112 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=240112 Progressive supranuclear palsy-progressive non-fluent aphasia syndrome Clinical subtype 240071 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=240071 Classic progressive supranuclear palsy syndrome Clinical subtype 282 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=282 Frontotemporal dementia Clinical group 100069 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100069 Semantic dementia Disease 100070 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100070 Progressive non-fluent aphasia Disease 275864 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=275864 Behavioral variant of frontotemporal dementia Disease 52430 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52430 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia Disease 275872 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=275872 Frontotemporal dementia with motor neuron disease Disease 454887 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=454887 Corticobasal syndrome Disease 98538 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98538 Ataxia with dementia Category 98539 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98539 Early-onset ataxia with dementia Category 1172 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1172 Autosomal recessive cerebellar ataxia Clinical group 88644 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88644 Autosomal recessive ataxia, Beauce type Disease 98095 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98095 Autosomal recessive congenital cerebellar ataxia Category 1170 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1170 Autosomal recessive cerebelloparenchymal disorder type 3 Disease 1766 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1766 Dysequilibrium syndrome Disease 83472 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83472 CAMOS syndrome Malformation syndrome 94122 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94122 Cerebellar ataxia, Cayman type Disease 140874 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140874 Joubert syndrome and related disorders Category 2318 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2318 Joubert syndrome with oculorenal defect Malformation syndrome 475 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=475 Isolated Joubert syndrome Malformation syndrome 1454 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1454 Joubert syndrome with hepatic defect Disease 2754 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2754 Orofaciodigital syndrome type 6 Malformation syndrome 220493 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=220493 Joubert syndrome with ocular defect Malformation syndrome 220497 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=220497 Joubert syndrome with renal defect Malformation syndrome 397715 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397715 Joubert syndrome with Jeune asphyxiating thoracic dystrophy Malformation syndrome 453521 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=453521 Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency Disease 512260 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=512260 Congenital cerebellar ataxia due to RNU12 mutation Disease 98096 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98096 Autosomal recessive metabolic cerebellar ataxia Category 642965 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=642965 Autosomal recessive ataxia due to PEX2 deficiency Disease 96 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96 Ataxia with vitamin E deficiency Disease 14 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=14 Abetalipoproteinemia Disease 773 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=773 Adult Refsum disease Disease 909 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=909 Cerebrotendinous xanthomatosis Disease 772 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=772 Infantile Refsum disease Disease 94125 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94125 Recessive mitochondrial ataxia syndrome Disease 247815 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247815 Autosomal recessive ataxia due to PEX10 deficiency Disease 352641 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352641 Autosomal recessive cerebellar ataxia with late-onset spasticity Disease 363429 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363429 Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome Disease 324262 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324262 Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency Clinical subtype 363432 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363432 Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency Clinical subtype 95433 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95433 Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome Disease 642954 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=642954 Autosomal recessive ataxia due to PEX16 deficiency Disease 98097 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98097 Autosomal recessive cerebellar ataxia due to a DNA repair defect Category 100 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100 Ataxia-telangiectasia Disease 1168 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1168 Ataxia-oculomotor apraxia type 1 Disease 64753 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=64753 Spinocerebellar ataxia with axonal neuropathy type 2 Disease 94124 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94124 Spinocerebellar ataxia with axonal neuropathy type 1 Disease 220295 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=220295 Xeroderma pigmentosum-Cockayne syndrome complex Disease 251347 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251347 Ataxia-telangiectasia-like disorder Disease 910 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=910 Xeroderma pigmentosum Disease 420741 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=420741 RIDDLE syndrome Malformation syndrome 98098 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98098 Autosomal recessive degenerative and progressive cerebellar ataxia Category 95 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95 Friedreich ataxia Disease 1177 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1177 Early-onset cerebellar ataxia with retained tendon reflexes Disease 1186 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1186 Infantile-onset spinocerebellar ataxia Disease 559 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=559 Marinesco-Sjögren syndrome Disease 48431 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=48431 Congenital cataracts-facial dysmorphism-neuropathy syndrome Malformation syndrome 88628 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88628 Posterior column ataxia-retinitis pigmentosa syndrome Disease 694922 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=694922 Childhood-onset stress-induced neurodegenerative ataxia-seizure syndrome Disease 496756 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=496756 Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome Disease 98099 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98099 Autosomal recessive syndromic cerebellar ataxia Category 95434 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95434 Autosomal recessive cerebellar ataxia-movement disorder syndrome Disease 284271 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284271 Autosomal recessive cerebellar ataxia-psychomotor delay syndrome Disease 459033 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=459033 Ataxia-oculomotor apraxia type 4 Disease 2074 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2074 Gemignani syndrome Malformation syndrome 504476 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=504476 Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome Disease 466794 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466794 Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome Disease 139485 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139485 Autosomal recessive ataxia due to ubiquinone deficiency Disease 284289 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284289 Adult-onset autosomal recessive cerebellar ataxia Disease 284324 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284324 Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia Disease 284332 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284332 Infantile-onset autosomal recessive nonprogressive cerebellar ataxia Disease 352403 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352403 Spectrin-associated autosomal recessive cerebellar ataxia Disease 404481 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404481 Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome Clinical group 284282 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284282 Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency Disease 404493 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404493 Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency Disease 404499 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404499 Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency Disease 412057 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=412057 Autosomal recessive cerebellar ataxia due to STUB1 deficiency Disease 98540 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98540 Late-onset ataxia with dementia Category 99 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99 Autosomal dominant cerebellar ataxia Category 94145 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94145 Autosomal dominant cerebellar ataxia type I Clinical group 98772 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98772 Spinocerebellar ataxia type 19/22 Disease 98773 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98773 Spinocerebellar ataxia type 21 Disease 101108 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101108 Spinocerebellar ataxia type 23 Disease 101109 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101109 Spinocerebellar ataxia type 28 Disease 101110 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101110 Spinocerebellar ataxia type 20 Disease 101111 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101111 Spinocerebellar ataxia type 25 Disease 208513 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=208513 Spinocerebellar ataxia type 29 Disease 276183 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276183 Spinocerebellar ataxia type 32 Disease 276193 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276193 Spinocerebellar ataxia type 35 Disease 276198 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276198 Spinocerebellar ataxia type 36 Disease 314404 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314404 Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome Disease 314647 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314647 Non-progressive cerebellar ataxia with intellectual disability Disease 363710 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363710 Spinocerebellar ataxia type 37 Disease 423275 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423275 Spinocerebellar ataxia type 40 Disease 1955 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1955 Spinocerebellar ataxia type 34 Disease 1171 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1171 Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome Disease 98755 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98755 Spinocerebellar ataxia type 1 Disease 98756 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98756 Spinocerebellar ataxia type 2 Disease 98757 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98757 Spinocerebellar ataxia type 3 Disease 276238 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276238 Machado-Joseph disease type 1 Clinical subtype 276241 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276241 Machado-Joseph disease type 2 Clinical subtype 276244 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276244 Machado-Joseph disease type 3 Clinical subtype 98759 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98759 Spinocerebellar ataxia type 17 Disease 98760 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98760 Spinocerebellar ataxia type 8 Disease 98762 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98762 Spinocerebellar ataxia type 12 Disease 98763 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98763 Spinocerebellar ataxia type 14 Disease 98764 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98764 Spinocerebellar ataxia type 27A Disease 98765 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98765 Spinocerebellar ataxia type 4 Disease 98768 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98768 Spinocerebellar ataxia type 13 Disease 98769 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98769 Spinocerebellar ataxia type 15/16 Disease 98771 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98771 Spinocerebellar ataxia type 18 Disease 497764 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=497764 Spinocerebellar ataxia type 43 Disease 589515 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589515 PUM1-associated developmental disability-ataxia-seizure syndrome Disease 589522 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589522 Spinocerebellar ataxia type 46 Disease 631103 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=631103 Spinocerebellar ataxia type 48 Disease 675216 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=675216 Spinocerebellar ataxia type 27B Disease 631106 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=631106 Spinocerebellar ataxia type 49 Disease 94148 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94148 Autosomal dominant cerebellar ataxia type III Clinical group 589527 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589527 Spinocerebellar ataxia type 45 Disease 631095 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=631095 Spinocerebellar ataxia type 44 Disease 98758 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98758 Spinocerebellar ataxia type 6 Disease 98766 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98766 Spinocerebellar ataxia type 5 Disease 98767 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98767 Spinocerebellar ataxia type 11 Disease 101112 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101112 Spinocerebellar ataxia type 26 Disease 211017 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=211017 Spinocerebellar ataxia type 30 Disease 217012 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217012 Spinocerebellar ataxia type 31 Disease 423296 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423296 Spinocerebellar ataxia type 38 Disease 458798 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=458798 Spinocerebellar ataxia type 41 Disease 458803 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=458803 Spinocerebellar ataxia type 42 Disease 94149 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94149 Autosomal dominant cerebellar ataxia type IV Clinical group 101 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101 Dentatorubral pallidoluysian atrophy Disease 98761 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98761 Spinocerebellar ataxia type 10 Disease 208508 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=208508 Autosomal dominant cerebellar ataxia type II Clinical group 94147 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94147 Spinocerebellar ataxia type 7 Disease 642747 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=642747 PUM1-related cerebellar ataxia Disease 248111 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=248111 Juvenile Huntington disease Disease 401901 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401901 Huntington disease-like syndrome due to C9ORF72 expansions Disease 412066 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=412066 PRKAR1B-related neurodegenerative dementia with intermediate filaments Disease 439254 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=439254 ITM2B amyloidosis Disease 97345 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97345 ABri amyloidosis Clinical subtype 97346 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97346 ADan amyloidosis Clinical subtype 2770 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2770 Nasu-Hakola disease Malformation syndrome 56970 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=56970 Human prion disease Category 280400 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280400 Inherited human prion disease Category 356 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=356 Gerstmann-Straussler-Scheinker syndrome Disease 466 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466 Fatal familial insomnia Disease 157941 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157941 Huntington disease-like 1 Disease 280397 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280397 Familial Alzheimer-like prion disease Disease 282166 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=282166 Inherited Creutzfeldt-Jakob disease Disease 397606 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397606 PrP systemic amyloidosis Disease 576356 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=576356 Sporadic human prion disease Category 204 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=204 Sporadic Creutzfeldt-Jakob disease Disease 454742 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=454742 Variably protease-sensitive prionopathy Disease 586130 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=586130 Sporadic fatal insomnia Disease 576360 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=576360 Acquired human prion disease Category 454745 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=454745 Kuru Disease 454700 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=454700 Acquired Creutzfeldt-Jakob disease Clinical group 576370 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=576370 Variant Creutzfeldt-Jakob disease Disease 576379 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=576379 Iatrogenic Creutzfeldt-Jakob disease Disease 385 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=385 Neurodegeneration with brain iron accumulation Clinical group 3464 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3464 Woodhouse-Sakati syndrome Disease 48818 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=48818 Aceruloplasminemia Disease 157846 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157846 Neuroferritinopathy Disease 157850 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157850 Pantothenate kinase-associated neurodegeneration Disease 216866 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216866 Classic pantothenate kinase-associated neurodegeneration Clinical subtype 216873 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216873 Atypical pantothenate kinase-associated neurodegeneration Clinical subtype 289560 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289560 Mitochondrial membrane protein-associated neurodegeneration Disease 306674 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306674 Kufor-Rakeb syndrome Disease 329284 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329284 Beta-propeller protein-associated neurodegeneration Disease 329303 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329303 PLA2G6-associated neurodegeneration Clinical group 35069 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35069 Infantile neuroaxonal dystrophy Disease 199351 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199351 Adult-onset dystonia-parkinsonism Disease 329308 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329308 Fatty acid hydroxylase-associated neurodegeneration Disease 397725 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397725 COASY protein-associated neurodegeneration Disease 496756 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=496756 Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome Disease 411602 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=411602 Hereditary late-onset Parkinson disease Disease 456318 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=456318 Hereditary sensory neuropathy-deafness-dementia syndrome Disease 313808 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=313808 Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia Disease 263440 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263440 Neuroacanthocytosis Clinical group 2388 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2388 Choreoacanthocytosis Disease 59306 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=59306 McLeod neuroacanthocytosis syndrome Disease 98934 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98934 Huntington disease-like 2 Disease 157850 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157850 Pantothenate kinase-associated neurodegeneration Disease 216866 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216866 Classic pantothenate kinase-associated neurodegeneration Clinical subtype 216873 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216873 Atypical pantothenate kinase-associated neurodegeneration Clinical subtype 98542 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98542 Infectious disease with dementia Category 1930 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1930 Herpes simplex virus encephalitis Disease 97349 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97349 Postencephalitic parkinsonism Disease 98543 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98543 Metabolic disease with dementia Category 512 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=512 Metachromatic leukodystrophy Disease 309256 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309256 Metachromatic leukodystrophy, late infantile form Clinical subtype 309263 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309263 Metachromatic leukodystrophy, juvenile form Clinical subtype 309271 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309271 Metachromatic leukodystrophy, adult form Clinical subtype 43 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=43 X-linked adrenoleukodystrophy Disease 139396 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139396 X-linked cerebral adrenoleukodystrophy Clinical subtype 139399 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139399 Adrenomyeloneuropathy Clinical subtype 98544 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98544 Cerebral lipidosis with dementia Category 796 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=796 Sandhoff disease Disease 309155 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309155 Sandhoff disease, infantile form Clinical subtype 309162 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309162 Sandhoff disease, juvenile form Clinical subtype 309169 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309169 Sandhoff disease, adult form Clinical subtype 909 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=909 Cerebrotendinous xanthomatosis Disease 646 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=646 Niemann-Pick disease type C Disease 216972 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216972 Niemann-Pick disease type C, severe perinatal form Clinical subtype 216975 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216975 Niemann-Pick disease type C, severe early infantile neurologic onset Clinical subtype 216978 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216978 Niemann-Pick disease type C, late infantile neurologic onset Clinical subtype 216981 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216981 Niemann-Pick disease type C, juvenile neurologic onset Clinical subtype 216986 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216986 Niemann-Pick disease type C, adult neurologic onset Clinical subtype 845 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=845 Tay-Sachs disease Disease 309178 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309178 Tay-Sachs disease, infantile form Clinical subtype 309185 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309185 Tay-Sachs disease, juvenile form Clinical subtype 309192 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309192 Tay-Sachs disease, adult form Clinical subtype 77259 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77259 Gaucher disease type 1 Clinical subtype 77260 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77260 Gaucher disease type 2 Clinical subtype 77261 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77261 Gaucher disease type 3 Clinical subtype 206448 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206448 Adult Krabbe disease Clinical subtype 216 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216 Neuronal ceroid lipofuscinosis Clinical group 228329 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228329 CLN1 disease Disease 699718 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699718 Infantile CLN1 disease Clinical subtype 699739 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699739 Juvenile CLN1 disease Clinical subtype 699745 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699745 Adult CLN1 disease Clinical subtype 699734 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699734 Late infantile CLN1 disease Clinical subtype 228349 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228349 CLN2 disease Disease 699751 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699751 Infantile CLN2 disease Clinical subtype 699769 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699769 Juvenile CLN2 disease Clinical subtype 699761 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699761 Late infantile CLN2 disease Clinical subtype 228346 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228346 CLN3 disease Disease 699780 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699780 Juvenile CLN3 disease Clinical subtype 699796 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699796 Protracted juvenile CLN3 disease Clinical subtype 228343 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228343 CLN4 disease Disease 314632 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314632 CLN12 disease Disease 314629 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314629 CLN11 disease Disease 699708 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699708 CLN14 disease Disease 228360 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228360 CLN5 disease Disease 699802 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699802 Late infantile CLN5 disease Clinical subtype 699807 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699807 Juvenile CLN5 disease Clinical subtype 699812 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699812 Adult CLN5 disease Clinical subtype 228363 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228363 CLN6 disease Disease 700477 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700477 Adult CLN6 disease Clinical subtype 700467 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700467 Late infantile CLN6 disease Clinical subtype 700472 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700472 Juvenile CLN6 disease Clinical subtype 228366 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228366 CLN7 disease Disease 228354 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228354 CLN8 disease Disease 700484 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700484 Late infantile CLN8 disease Clinical subtype 1947 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1947 Northern epilepsy Clinical subtype 352709 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352709 CLN13 disease Disease 228337 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228337 CLN10 disease Disease 700487 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700487 Congenital CLN10 disease Clinical subtype 700492 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700492 Late infantile CLN10 disease Clinical subtype 700497 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700497 Juvenile CLN10 disease Clinical subtype 98549 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98549 Rare cerebrovascular dementia Category 136 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=136 Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy Disease 85458 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85458 Hereditary cerebral amyloid angiopathy Disease 100006 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100006 ABeta amyloidosis, Dutch type Clinical subtype 100008 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100008 ACys amyloidosis Clinical subtype 324703 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324703 ABetaL34V amyloidosis Clinical subtype 324708 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324708 ABeta amyloidosis, Iowa type Clinical subtype 324713 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324713 ABeta amyloidosis, Italian type Clinical subtype 324718 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324718 ABetaA21G amyloidosis Clinical subtype 324723 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324723 ABeta amyloidosis, Arctic type Clinical subtype 575553 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=575553 Cathepsin A-related arteriopathy-strokes-leukoencephalopathy Disease 158266 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158266 Huntington disease-like syndrome Clinical group 101 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101 Dentatorubral pallidoluysian atrophy Disease 1429 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1429 Benign hereditary chorea Disease 98755 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98755 Spinocerebellar ataxia type 1 Disease 98756 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98756 Spinocerebellar ataxia type 2 Disease 98757 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98757 Spinocerebellar ataxia type 3 Disease 276238 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276238 Machado-Joseph disease type 1 Clinical subtype 276241 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276241 Machado-Joseph disease type 2 Clinical subtype 276244 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276244 Machado-Joseph disease type 3 Clinical subtype 98759 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98759 Spinocerebellar ataxia type 17 Disease 157846 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157846 Neuroferritinopathy Disease 157946 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157946 Huntington disease-like 3 Disease 263440 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263440 Neuroacanthocytosis Clinical group 2388 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2388 Choreoacanthocytosis Disease 59306 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=59306 McLeod neuroacanthocytosis syndrome Disease 98934 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98934 Huntington disease-like 2 Disease 157850 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157850 Pantothenate kinase-associated neurodegeneration Disease 216866 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216866 Classic pantothenate kinase-associated neurodegeneration Clinical subtype 216873 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216873 Atypical pantothenate kinase-associated neurodegeneration Clinical subtype 494541 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=494541 Childhood-onset benign chorea with striatal involvement Disease 482072 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=482072 HTRA1-related cerebral small vessel disease Clinical group 199354 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199354 Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy Disease 482077 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=482077 HTRA1-related autosomal dominant cerebral small vessel disease Disease 168778 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168778 Rare pervasive developmental disorder Category 778 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=778 Rett syndrome Disease 3095 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3095 Atypical Rett syndrome Disease 168782 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168782 Childhood disintegrative disorder Disease 180772 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180772 Rare disease with autism Category 65283 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65283 Timothy syndrome Malformation syndrome 595098 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=595098 Timothy syndrome type 1 Clinical subtype 595105 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=595105 Timothy syndrome type 2 Clinical subtype 595109 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=595109 Atypical Timothy syndrome Clinical subtype 314389 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314389 Xq12-q13.3 duplication syndrome Malformation syndrome 329195 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329195 Developmental delay with autism spectrum disorder and gait instability Disease 908 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=908 Fragile X syndrome Malformation syndrome 819 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=819 Smith-Magenis syndrome Malformation syndrome 805 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=805 Tuberous sclerosis complex Disease 46 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=46 Adenylosuccinate lyase deficiency Disease 3306 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3306 Inverted duplicated chromosome 15 syndrome Malformation syndrome 210548 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=210548 Macrocephaly-intellectual disability-autism syndrome Disease 293948 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293948 1p21.3 microdeletion syndrome Malformation syndrome 352490 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352490 Autism spectrum disorder due to AUTS2 deficiency Disease 370943 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370943 Autism spectrum disorder-epilepsy-arthrogryposis syndrome Disease 99704 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99704 Early-onset obesity-hyperphagia-severe developmental delay syndrome Disease 500545 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=500545 Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract Disease 589547 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589547 GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder Disease 199627 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199627 Atypical autism Disease 600663 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=600663 NRXN1-related severe neurodevelopmental disorder-motor stereotypies-chronic constipation-sleep-wake cycle disturbance Malformation syndrome 561854 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=561854 FOXG1 syndrome Disease 598164 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=598164 FOXG1 syndrome due to intragenic alteration Clinical subtype 261144 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261144 FOXG1 syndrome due to 14q12 microdeletion Clinical subtype 505652 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=505652 CDKL5-deficiency disorder Disease 199318 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199318 15q13.3 microdeletion syndrome Malformation syndrome 398073 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=398073 Prader-Willi-like syndrome Clinical group 633028 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=633028 CPE-related Prader-Willi-like syndrome Disease 171829 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171829 6q16 microdeletion syndrome Disease 398079 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=398079 SIM1-related Prader-Willi-like syndrome Disease 398069 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=398069 Schaaf-Yang syndrome Disease 157823 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157823 Klüver-Bucy syndrome Clinical syndrome 420789 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=420789 Autoimmune encephalopathy with parasomnia and obstructive sleep apnea Disease 83601 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83601 Steroid-responsive encephalopathy associated with autoimmune thyroiditis Disease 648919 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=648919 Idiopathic catatonia Disease 647799 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=647799 MYT1L-related developmental delay-intellectual disability-obesity syndrome Disease 525738 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=525738 Prepubertal anorexia nervosa Disease 443173 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443173 Postpartum psychosis Disease 623789 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=623789 Body integrity dysphoria Disease 589905 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589905 PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome Disease 641496 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=641496 Childhood-onset schizophrenia Disease 98044 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98044 Central nervous system malformation Category 108989 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=108989 Non-syndromic central nervous system malformation Category 2185 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2185 Congenital hydrocephalus Malformation syndrome 269505 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=269505 Congenital communicating hydrocephalus Clinical subtype 269510 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=269510 Congenital non-communicating hydrocephalus Clinical subtype 3388 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3388 Neural tube defect Category 268357 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268357 Neural tube closure defect Category 823 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=823 Spina bifida and other spinal dysraphisms Category 268369 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268369 Open spinal dysraphism Clinical group 645270 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645270 Open spinal dysraphism with a posterior meningocele Clinical group 645378 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645378 Myelic limited dorsal malformation Morphological anomaly 93969 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93969 Open spinal dysraphism with a myelomeningocele Morphological anomaly 645383 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645383 True myelomeningocele Clinical subtype 645388 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645388 Hemi-myelomeningocele Clinical subtype 645398 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645398 Myeloschisis Morphological anomaly 645401 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645401 True myeloschisis Clinical subtype 645393 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645393 Hemi-myeloschisis Clinical subtype 268744 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268744 Spinal dysraphism with a posterior meningocele Clinical group 268810 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268810 Isolated posterior meningocele Morphological anomaly 268813 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268813 Myelocystocele Clinical group 645337 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645337 Terminal myelocystocele Morphological anomaly 645340 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645340 Non-terminal myelocystocele Morphological anomaly 645319 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645319 Saccular spinal dysraphism with a stalk to the dome Clinical group 645354 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645354 Saccular limited dorsal myeloschisis Morphological anomaly 645378 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645378 Myelic limited dorsal malformation Morphological anomaly 645337 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645337 Terminal myelocystocele Morphological anomaly 645270 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645270 Open spinal dysraphism with a posterior meningocele Clinical group 645378 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645378 Myelic limited dorsal malformation Morphological anomaly 93969 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93969 Open spinal dysraphism with a myelomeningocele Morphological anomaly 645383 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645383 True myelomeningocele Clinical subtype 645388 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645388 Hemi-myelomeningocele Clinical subtype 645202 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645202 Closed spinal dysraphism Clinical group 573278 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=573278 Split cord malformation Clinical group 573253 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=573253 Split cord malformation type II Morphological anomaly 1671 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1671 Split cord malformation type I Morphological anomaly 633076 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=633076 Split cord malformation, composite type Morphological anomaly 268810 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268810 Isolated posterior meningocele Morphological anomaly 268813 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268813 Myelocystocele Clinical group 645337 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645337 Terminal myelocystocele Morphological anomaly 645340 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645340 Non-terminal myelocystocele Morphological anomaly 656126 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=656126 Segmental spinal dysgenesis Disease 645273 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645273 Dysraphic spinal cord lipoma Clinical group 645362 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645362 Dorsal spinal cord lipoma Morphological anomaly 645367 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645367 Conus spinal cord lipoma Clinical group 645285 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645285 Chaotic conus spinal cord lipoma Morphological anomaly 645297 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645297 Extramedullary conus spinal cord lipoma Morphological anomaly 645291 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645291 Transitional extramedullary conus spinal cord lipoma Clinical subtype 645288 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645288 Terminal extramedullary conus spinal cord lipoma Clinical subtype 645294 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645294 Posterior extramedullary conus spinal cord lipoma Clinical subtype 3027 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3027 Caudal regression syndrome Malformation syndrome 645193 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645193 Dysraphism with stalk Clinical group 645334 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645334 Retained medullary cord Morphological anomaly 645188 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645188 Spinal dermal sinus Morphological anomaly 645196 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645196 Limited dorsal myeloschisis Clinical group 645343 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645343 Non-saccular limited dorsal myeloschisis Morphological anomaly 645310 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645310 Fibroneural non-saccular limited dorsal myeloschisis Histopathological subtype 645300 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645300 Lipomatous non-saccular limited dorsal myeloschisis Histopathological subtype 645319 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645319 Saccular spinal dysraphism with a stalk to the dome Clinical group 645354 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645354 Saccular limited dorsal myeloschisis Morphological anomaly 645378 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645378 Myelic limited dorsal malformation Morphological anomaly 645337 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645337 Terminal myelocystocele Morphological anomaly 645282 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645282 Anomaly of the filum Clinical group 645279 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645279 Fibrolipomatous filum anomaly Clinical group 645325 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645325 Isolated filum lipoma Morphological anomaly 645322 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645322 Isolated transitional filum lipoma Morphological anomaly 645334 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645334 Retained medullary cord Morphological anomaly 645276 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645276 Spinal cord lipoma Clinical group 645359 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645359 Intramedullary non-dysraphic spinal cord lipoma Morphological anomaly 645273 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645273 Dysraphic spinal cord lipoma Clinical group 645362 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645362 Dorsal spinal cord lipoma Morphological anomaly 645367 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645367 Conus spinal cord lipoma Clinical group 645285 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645285 Chaotic conus spinal cord lipoma Morphological anomaly 645297 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645297 Extramedullary conus spinal cord lipoma Morphological anomaly 645291 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645291 Transitional extramedullary conus spinal cord lipoma Clinical subtype 645288 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645288 Terminal extramedullary conus spinal cord lipoma Clinical subtype 645294 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645294 Posterior extramedullary conus spinal cord lipoma Clinical subtype 268843 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268843 Malformation of the neurenteric canal, spinal cord and column Category 63260 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=63260 Craniorachischisis Morphological anomaly 1048 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1048 Isolated anencephaly/exencephaly Morphological anomaly 563609 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=563609 Isolated anencephaly Clinical subtype 563612 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=563612 Isolated exencephaly Clinical subtype 63259 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=63259 Iniencephaly Morphological anomaly 268363 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268363 Open iniencephaly Clinical subtype 268366 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268366 Closed iniencephaly Clinical subtype 268817 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268817 Cephalocele Clinical group 199647 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199647 Isolated encephalocele Morphological anomaly 268823 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268823 Occipital encephalocele Clinical subtype 268826 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268826 Parietal encephalocele Clinical subtype 268829 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268829 Basal encephalocele Clinical subtype 1931 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1931 Frontal encephalocele Clinical subtype 141118 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141118 Nasal encephalocele Clinical subtype 268820 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268820 Cranial meningocele Morphological anomaly 3027 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3027 Caudal regression syndrome Malformation syndrome 573278 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=573278 Split cord malformation Clinical group 573253 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=573253 Split cord malformation type II Morphological anomaly 1671 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1671 Split cord malformation type I Morphological anomaly 633076 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=633076 Split cord malformation, composite type Morphological anomaly 656126 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=656126 Segmental spinal dysgenesis Disease 2789 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2789 Lateral meningocele syndrome Malformation syndrome 99856 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99856 Primary syringomyelia Morphological anomaly 99858 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99858 Idiopathic syringomyelia Clinical subtype 370034 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370034 Familial syringomyelia Clinical subtype 268861 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268861 Primary tethered cord syndrome Morphological anomaly 268865 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268865 Neurenteric cyst Morphological anomaly 268868 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268868 Isolated amyelia Morphological anomaly 268882 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268882 Arnold-Chiari malformation type I Morphological anomaly 397927 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397927 Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome Malformation syndrome 98518 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98518 Cranial nerve and nuclear aplasia Category 570 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=570 Moebius syndrome Disease 233 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=233 Duane retraction syndrome Malformation syndrome 306527 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306527 Isolated hereditary congenital facial paralysis Morphological anomaly 306530 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306530 Congenital hereditary facial paralysis-variable hearing loss syndrome Morphological anomaly 324353 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324353 Congenital achiasma Morphological anomaly 98519 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98519 Posterior fossa malformation Category 98523 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98523 Non-syndromic pontocerebellar hypoplasia Clinical group 2524 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2524 Pontocerebellar hypoplasia type 2 Malformation syndrome 2254 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2254 Pontocerebellar hypoplasia type 1 Malformation syndrome 97249 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97249 Pontocerebellar hypoplasia type 3 Malformation syndrome 166063 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166063 Pontocerebellar hypoplasia type 4 Malformation syndrome 166073 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166073 Pontocerebellar hypoplasia type 6 Malformation syndrome 284339 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284339 Pontocerebellar hypoplasia type 7 Malformation syndrome 324569 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324569 Pontocerebellar hypoplasia type 8 Malformation syndrome 369920 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369920 Pontocerebellar hypoplasia type 9 Malformation syndrome 411493 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=411493 Pontocerebellar hypoplasia type 10 Malformation syndrome 611256 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=611256 Pontocerebellar hypoplasia type 12 Malformation syndrome 611247 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=611247 Pontocerebellar hypoplasia type 11 Malformation syndrome 613267 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=613267 Pontocerebellar hypoplasia type 13 Malformation syndrome 613274 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=613274 Pontocerebellar hypoplasia type 14 Malformation syndrome 182061 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=182061 Cerebellar malformation Category 59315 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=59315 Rhombencephalosynapsis Malformation syndrome 98514 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98514 Malformation of the cerebellar vermis Category 475 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=475 Isolated Joubert syndrome Malformation syndrome 199630 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199630 Isolated cerebellar vermis hypoplasia Morphological anomaly 269203 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=269203 Isolated cerebellar vermis agenesis Morphological anomaly 269206 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=269206 Isolated total cerebellar vermis agenesis Clinical subtype 269209 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=269209 Isolated partial cerebellar vermis agenesis Clinical subtype 98516 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98516 Malformation of the cerebellar hemispheres Category 269218 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=269218 Isolated unilateral hemispheric cerebellar hypoplasia Morphological anomaly 269221 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=269221 Isolated bilateral hemispheric cerebellar hypoplasia Morphological anomaly 269224 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=269224 Global cerebellar malformation Category 1397 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1397 Hydrocephaly-cerebellar agenesis syndrome Malformation syndrome 1398 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1398 Isolated cerebellar agenesis Morphological anomaly 269229 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=269229 Pontine tegmental cap dysplasia Morphological anomaly 217 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217 Isolated Dandy-Walker malformation Morphological anomaly 269212 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=269212 Isolated Dandy-Walker malformation with hydrocephalus Clinical subtype 269215 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=269215 Isolated Dandy-Walker malformation without hydrocephalus Clinical subtype 97252 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97252 Mega-cisterna magna Morphological anomaly 98922 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98922 Blake pouch cyst Morphological anomaly 199633 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199633 Non-syndromic cerebral malformation Category 1665 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1665 Sporadic fetal brain disruption sequence Malformation syndrome 2477 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2477 Isolated megalencephaly Malformation syndrome 99802 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99802 Hemimegalencephaly Malformation syndrome 163209 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163209 Non-syndromic cerebral malformation due to abnormal neuronal migration Category 2149 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2149 Nodular neuronal heterotopia Morphological anomaly 98892 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98892 Periventricular nodular heterotopia Clinical subtype 101029 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101029 Sub-cortical nodular heterotopia Clinical subtype 101030 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101030 Subependymal nodular heterotopia Clinical subtype 35981 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35981 Polymicrogyria Clinical group 268940 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268940 Bilateral polymicrogyria Morphological anomaly 98889 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98889 Bilateral perisylvian polymicrogyria Clinical subtype 101070 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101070 Bilateral frontoparietal polymicrogyria Clinical subtype 208441 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=208441 Bilateral parasagittal parieto-occipital polymicrogyria Clinical subtype 208444 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=208444 Bilateral frontal polymicrogyria Clinical subtype 208447 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=208447 Bilateral generalized polymicrogyria Clinical subtype 268943 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268943 Unilateral polymicrogyria Morphological anomaly 101071 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101071 Unilateral hemispheric polymicrogyria Clinical subtype 268947 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268947 Unilateral focal polymicrogyria Clinical subtype 99796 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99796 Subcortical band heterotopia Morphological anomaly 268950 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268950 Cerebral cortical dysplasia Clinical group 65683 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65683 Isolated focal cortical dysplasia Disease 268961 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268961 Isolated focal cortical dysplasia type I Clinical subtype 268973 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268973 Isolated focal cortical dysplasia type Ia Histopathological subtype 268980 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268980 Isolated focal cortical dysplasia type Ib Histopathological subtype 268987 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268987 Isolated focal cortical dysplasia type Ic Histopathological subtype 268994 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268994 Isolated focal cortical dysplasia type II Clinical subtype 269001 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=269001 Isolated focal cortical dysplasia type IIa Histopathological subtype 269008 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=269008 Isolated focal cortical dysplasia type IIb Histopathological subtype 280640 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280640 Occipital pachygyria and polymicrogyria Malformation syndrome 300570 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300570 Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation Disease 329329 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329329 Autosomal recessive frontotemporal pachygyria Malformation syndrome 2798 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2798 Pachygyria-intellectual disability-epilepsy syndrome Malformation syndrome 199642 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199642 Isolated congenital microcephaly Malformation syndrome 2512 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2512 Autosomal recessive primary microcephaly Etiological subtype 2514 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2514 Autosomal dominant primary microcephaly Etiological subtype 268926 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268926 Midline cerebral malformation Category 2162 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2162 Holoprosencephaly Malformation syndrome 93924 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93924 Lobar holoprosencephaly Clinical subtype 93925 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93925 Alobar holoprosencephaly Clinical subtype 93926 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93926 Midline interhemispheric variant of holoprosencephaly Clinical subtype 220386 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=220386 Semilobar holoprosencephaly Clinical subtype 280195 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280195 Septopreoptic holoprosencephaly Clinical subtype 1126 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1126 Aprosencephaly cerebellar dysgenesis Malformation syndrome 314621 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314621 Duplication of the pituitary gland Morphological anomaly 280200 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280200 Microform holoprosencephaly Malformation syndrome 566847 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=566847 Aprosencephaly/atelencephaly spectrum Morphological anomaly 566852 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=566852 Atelencephaly Clinical subtype 566857 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=566857 Aprosencephaly Clinical subtype 268936 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268936 Isolated arhinencephaly Morphological anomaly 269190 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=269190 Encephaloclastic disorder Clinical group 799 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=799 Schizencephaly Disease 481986 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=481986 Familial schizencephaly Etiological subtype 485275 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=485275 Acquired schizencephaly Etiological subtype 2177 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2177 Hydranencephaly Malformation syndrome 2940 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2940 Porencephaly Disease 99810 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99810 Familial porencephaly Etiological subtype 314697 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314697 Acquired porencephaly Etiological subtype 319192 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319192 Diencephalic-mesencephalic junction dysplasia Morphological anomaly 200 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=200 Isolated corpus callosum agenesis Morphological anomaly 269194 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=269194 Central nervous system cystic malformation Category 2356 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2356 Arachnoid cyst Morphological anomaly 269197 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=269197 Glioependymal/ependymal cyst Morphological anomaly 530033 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=530033 Dermoid or epidermoid cyst of the central nervous system Morphological anomaly 108991 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=108991 Syndrome with a central nervous system malformation as a major feature Category 48471 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=48471 Lissencephaly Category 1083 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1083 Microlissencephaly Morphological anomaly 89844 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=89844 Lissencephaly syndrome, Norman-Roberts type Clinical subtype 51577 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=51577 Cobblestone lissencephaly Clinical group 352682 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352682 Cobblestone lissencephaly without muscular or ocular involvement Disease 352687 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352687 Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies Clinical group 272 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=272 Congenital muscular dystrophy, Fukuyama type Malformation syndrome 899 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=899 Walker-Warburg syndrome Disease 588 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=588 Muscle-eye-brain disease Malformation syndrome 370997 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370997 Muscle-eye-brain disease with bilateral multicystic leucodystrophy Disease 86823 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86823 Lissencephaly with cerebellar hypoplasia Clinical group 100011 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100011 Lissencephaly with cerebellar hypoplasia type A Malformation syndrome 100012 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100012 Lissencephaly with cerebellar hypoplasia type B Malformation syndrome 100013 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100013 Lissencephaly with cerebellar hypoplasia type C Malformation syndrome 100014 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100014 Lissencephaly with cerebellar hypoplasia type D Malformation syndrome 100015 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100015 Lissencephaly with cerebellar hypoplasia type E Malformation syndrome 100016 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100016 Lissencephaly with cerebellar hypoplasia type F Malformation syndrome 102009 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=102009 Classic lissencephaly Clinical group 572013 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=572013 Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome Malformation syndrome 2148 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2148 Lissencephaly type 1 due to doublecortin gene mutation Disease 531 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=531 Miller-Dieker syndrome Malformation syndrome 1084 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1084 Isolated lissencephaly type 1 without known genetic defects Disease 95232 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95232 Lissencephaly due to LIS1 mutation Disease 102010 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=102010 Other syndrome with lissencephaly as a major feature Category 1528 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1528 Craniotelencephalic dysplasia Malformation syndrome 2510 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2510 Micro syndrome Malformation syndrome 2995 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2995 Baraitser-Winter cerebrofrontofacial syndrome Malformation syndrome 452 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=452 X-linked lissencephaly with abnormal genitalia Malformation syndrome 102011 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=102011 Lissencephaly type 3 Clinical group 2671 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2671 Neu-Laxova syndrome Malformation syndrome 583602 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=583602 Neu-Laxova syndrome due to phosphoserine aminotransferase deficiency Etiological subtype 583607 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=583607 Neu-Laxova syndrome due to 3-phosphoglycerate dehydrogenase deficiency Etiological subtype 583612 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=583612 Neu-Laxova syndrome due to 3-phosphoserine phosphatase deficiency Etiological subtype 86821 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86821 Lissencephaly type 3-familial fetal akinesia sequence syndrome Malformation syndrome 86822 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86822 Lissencephaly type 3-metacarpal bone dysplasia syndrome Malformation syndrome 171680 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171680 Lissencephaly due to TUBA1A mutation Malformation syndrome 199639 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199639 Syndrome with corpus callosum agenesis/dysgenesis as a major feature Category 1083 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1083 Microlissencephaly Morphological anomaly 89844 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=89844 Lissencephaly syndrome, Norman-Roberts type Clinical subtype 50 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=50 Aicardi syndrome Disease 36 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=36 Acrocallosal syndrome Malformation syndrome 1496 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1496 Corpus callosum agenesis-neuronopathy syndrome Disease 1493 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1493 Vici syndrome Malformation syndrome 1495 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1495 Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome Malformation syndrome 1553 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1553 Curry-Jones syndrome Malformation syndrome 1777 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1777 Temtamy syndrome Malformation syndrome 3338 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3338 Toriello-Carey syndrome Malformation syndrome 2510 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2510 Micro syndrome Malformation syndrome 3207 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3207 White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome Malformation syndrome 52055 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52055 Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome Malformation syndrome 171703 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171703 Microcephaly-polymicrogyria-corpus callosum agenesis syndrome Malformation syndrome 275543 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=275543 L1 syndrome Malformation syndrome 2182 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2182 Hydrocephalus with stenosis of the aqueduct of Sylvius Clinical subtype 2466 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2466 MASA syndrome Clinical subtype 1497 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1497 X-linked complicated corpus callosum dysgenesis Clinical subtype 306617 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306617 X-linked complicated spastic paraplegia type 1 Clinical subtype 423655 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423655 ARX-related encephalopathy-brain malformation spectrum Clinical group 2508 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2508 Corpus callosum agenesis-abnormal genitalia syndrome Malformation syndrome 452 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=452 X-linked lissencephaly with abnormal genitalia Malformation syndrome 83473 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83473 Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome Malformation syndrome 459074 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=459074 Corpus callosum agenesis-macrocephaly-hypertelorism syndrome Malformation syndrome 457284 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457284 Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome Malformation syndrome 467166 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=467166 Tubulinopathy-associated dysgyria Disease 466688 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466688 Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome Malformation syndrome 694937 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=694937 Intellectual disability-peripheral neuropathy-corpus callosum abnormalities syndrome due to nudix hydrolase 2 deficiency Malformation syndrome 500159 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=500159 Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom Malformation syndrome 447893 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447893 Hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome Clinical subtype 269523 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=269523 Syndrome with a cerebellar malformation as a major feature Category 459070 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=459070 X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome Malformation syndrome 466688 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466688 Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome Malformation syndrome 468699 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=468699 SLC39A8-CDG Disease 314597 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314597 Chudley-McCullough syndrome Malformation syndrome 1493 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1493 Vici syndrome Malformation syndrome 397709 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397709 Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome Malformation syndrome 443162 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443162 NDE1-related microhydranencephaly Malformation syndrome 2318 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2318 Joubert syndrome with oculorenal defect Malformation syndrome 1454 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1454 Joubert syndrome with hepatic defect Disease 1532 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1532 Gómez-López-Hernández syndrome Malformation syndrome 2246 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2246 Cerebellar hypoplasia-tapetoretinal degeneration syndrome Malformation syndrome 2754 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2754 Orofaciodigital syndrome type 6 Malformation syndrome 2941 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2941 Porencephaly-cerebellar hypoplasia-internal malformations syndrome Malformation syndrome 3322 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3322 Hoyeraal-Hreidarsson syndrome Disease 3469 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3469 XK aprosencephaly syndrome Malformation syndrome 42775 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=42775 PHACE syndrome Malformation syndrome 65285 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65285 Lhermitte-Duclos disease Clinical subtype 65288 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65288 Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome Malformation syndrome 85186 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85186 Endosteal sclerosis-cerebellar hypoplasia syndrome Malformation syndrome 137831 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137831 X-linked intellectual disability-cerebellar hypoplasia syndrome Disease 163937 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163937 X-linked intellectual disability, Najm type Disease 163961 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163961 X-linked cerebral-cerebellar-coloboma syndrome Disease 220493 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=220493 Joubert syndrome with ocular defect Malformation syndrome 220497 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=220497 Joubert syndrome with renal defect Malformation syndrome 269546 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=269546 Syndrome with a Dandy-Walker malformation as a major feature Category 1538 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1538 Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome Malformation syndrome 7 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=7 3C syndrome Malformation syndrome 916 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=916 Aase-Smith syndrome type 1 Malformation syndrome 1568 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1568 X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome Malformation syndrome 1970 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1970 Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome Malformation syndrome 2218 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2218 Cervical hypertrichosis-peripheral neuropathy syndrome Disease 3032 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3032 NPHP3-related Meckel-like syndrome Malformation syndrome 2427 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2427 Macrocephaly-short stature-paraplegia syndrome Malformation syndrome 73245 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=73245 Spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome Malformation syndrome 79332 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79332 B4GALT1-CDG Disease 1566 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1566 Dandy-Walker malformation-postaxial polydactyly syndrome Malformation syndrome 370022 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370022 Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome Disease 401959 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401959 Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome Malformation syndrome 439897 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=439897 Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome Malformation syndrome 444072 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=444072 Cerebellar-facial-dental syndrome Malformation syndrome 300573 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300573 Polymicrogyria due to TUBB2B mutation Malformation syndrome 467166 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=467166 Tubulinopathy-associated dysgyria Disease 480898 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480898 Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome Disease 495875 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=495875 Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome Malformation syndrome 529665 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=529665 Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome Malformation syndrome 2703 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2703 Port-wine nevi-mega cisterna magna-hydrocephalus syndrome Malformation syndrome 580933 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=580933 Lethal brain and heart developmental defects Malformation syndrome 611223 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=611223 EN1-related dorsoventral syndrome Malformation syndrome 615954 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=615954 Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome Clinical syndrome 615983 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=615983 Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to a point mutation Etiological subtype 615986 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=615986 Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to biallelic deletions in the ATAD3 gene cluster Etiological subtype 693549 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=693549 Facial dysmorphism-Intellectual disability-rhombencephalosynapsis syndrome Malformation syndrome 269528 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=269528 Syndrome with microcephaly as a major feature Category 572333 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=572333 Blepharophimosis-ptosis-epicanthus inversus syndrome plus Malformation syndrome 481152 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=481152 PYCR2-related microcephaly-progressive leukoencephalopathy Malformation syndrome 2510 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2510 Micro syndrome Malformation syndrome 3433 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3433 Microcephaly-brachydactyly-kyphoscoliosis syndrome Malformation syndrome 1270 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1270 Bowen-Conradi syndrome Malformation syndrome 2515 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2515 Microcephaly-cardiomyopathy syndrome Malformation syndrome 2522 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2522 Microcephaly-cervical spine fusion anomalies syndrome Malformation syndrome 2523 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2523 Microcephaly-brain defect-spasticity-hypernatremia syndrome Malformation syndrome 2526 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2526 Microcephaly-lymphedema-chorioretinopathy syndrome Malformation syndrome 2528 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2528 Microcephaly-microcornea syndrome, Seemanova type Malformation syndrome 99742 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99742 Amish lethal microcephaly Malformation syndrome 293967 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293967 Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome Malformation syndrome 294016 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294016 Microcephaly-capillary malformation syndrome Malformation syndrome 306558 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306558 Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome Disease 313795 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=313795 Jawad syndrome Malformation syndrome 324761 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324761 Microcephalic primordial dwarfism Clinical group 808 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=808 Seckel syndrome Malformation syndrome 2554 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2554 Ear-patella-short stature syndrome Malformation syndrome 2643 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2643 Microcephalic primordial dwarfism, Toriello type Malformation syndrome 2636 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2636 Microcephalic osteodysplastic primordial dwarfism types I and III Malformation syndrome 2637 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2637 Microcephalic osteodysplastic primordial dwarfism type II Malformation syndrome 85172 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85172 Microcephalic osteodysplastic dysplasia, Saul-Wilson type Disease 319671 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319671 Alazami syndrome Malformation syndrome 319675 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319675 Microcephalic primordial dwarfism, Dauber type Malformation syndrome 329228 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329228 Microcephalic primordial dwarfism due to ZNF335 deficiency Malformation syndrome 468631 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=468631 Microcephalic cortical malformations-short stature due to RTTN deficiency Malformation syndrome 658595 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=658595 DNMT3A-related microcephalic dwarfism Malformation syndrome 572761 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=572761 DONSON-related microcephaly-short stature-limb abnormalities spectrum Malformation syndrome 572768 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=572768 Microcephaly-micromelia syndrome Clinical subtype 572773 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=572773 Microcephaly-short stature-limb abnormalities syndrome Clinical subtype 329332 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329332 Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome Malformation syndrome 391408 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391408 Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome Disease 402364 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=402364 Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly Malformation syndrome 404437 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404437 Diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndrome Malformation syndrome 434179 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=434179 Orofaciodigital syndrome type 14 Malformation syndrome 439897 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=439897 Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome Malformation syndrome 443162 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443162 NDE1-related microhydranencephaly Malformation syndrome 477814 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=477814 Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome Malformation syndrome 597743 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=597743 SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome Malformation syndrome 662762 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=662762 Motor delay-microcephaly-speech impairment-ocular abnormalities syndrome Malformation syndrome 662179 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=662179 Microcephaly-hearing loss-facial dysmorphism-intellectual disability syndrome Malformation syndrome 664923 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=664923 Congenital arthrogryposis-microcephaly-facial dysmorphism-severe neurodevelopmental delay syndrome Malformation syndrome 659642 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=659642 Rauch-Steindl syndrome Malformation syndrome 684240 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=684240 Neurodevelopmental disorder-spasticity-movement disorder-epileptic syndrome Malformation syndrome 699844 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699844 Microcephaly-corpus callosum hypoplasia-simplified gyral pattern-intellectual disability syndrome Malformation syndrome 633035 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=633035 Intellectual disability-early-onset cataract-microcephaly syndrome Malformation syndrome 269531 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=269531 Other syndrome with a central nervous system malformation as a major feature Category 529574 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=529574 Duane retraction syndrome with congenital deafness Malformation syndrome 443162 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443162 NDE1-related microhydranencephaly Malformation syndrome 300573 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300573 Polymicrogyria due to TUBB2B mutation Malformation syndrome 314597 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314597 Chudley-McCullough syndrome Malformation syndrome 480528 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480528 Lethal hydranencephaly-diaphragmatic hernia syndrome Malformation syndrome 93932 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93932 FG syndrome type 1 Disease 564 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=564 Meckel syndrome Malformation syndrome 2744 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2744 Horizontal gaze palsy with progressive scoliosis Disease 3176 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3176 Spina bifida-hypospadias syndrome Malformation syndrome 1647 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1647 Oculocerebrocutaneous syndrome Malformation syndrome 1756 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1756 Caudal duplication Malformation syndrome 2065 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2065 Galloway-Mowat syndrome Malformation syndrome 2184 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2184 Hydrocephaly-low insertion umbilicus syndrome Malformation syndrome 2163 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2163 Holoprosencephaly-craniosynostosis syndrome Malformation syndrome 2165 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2165 Holoprosencephaly-caudal dysgenesis syndrome Malformation syndrome 2189 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2189 Hydrolethalus Malformation syndrome 2351 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2351 Kousseff syndrome Malformation syndrome 2570 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2570 Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome Malformation syndrome 3157 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3157 Septo-optic dysplasia spectrum Malformation syndrome 1768 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1768 Familial caudal dysgenesis Malformation syndrome 63862 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=63862 Schisis association Malformation syndrome 66625 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=66625 Cerebrooculonasal syndrome Malformation syndrome 83628 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83628 LUMBAR syndrome Malformation syndrome 171839 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171839 Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome Malformation syndrome 210548 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=210548 Macrocephaly-intellectual disability-autism syndrome Disease 221126 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=221126 Fowler vasculopathy Malformation syndrome 247198 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247198 Progressive cerebello-cerebral atrophy Disease 250972 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=250972 Polymicrogyria with optic nerve hypoplasia Malformation syndrome 251383 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251383 CK syndrome Malformation syndrome 306547 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306547 Porencephaly-microcephaly-bilateral congenital cataract syndrome Malformation syndrome 314993 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314993 Cataract-congenital heart disease-neural tube defect syndrome Malformation syndrome 356961 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=356961 SLC35A2-CDG Disease 443988 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443988 Ventriculomegaly-cystic kidney disease Disease 444069 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=444069 Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome Malformation syndrome 500135 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=500135 Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome Malformation syndrome 2117 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2117 Hartsfield syndrome Malformation syndrome 500144 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=500144 Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome Malformation syndrome 500150 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=500150 ZTTK syndrome Malformation syndrome 556955 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=556955 Pancreatic agenesis-holoprosencephaly syndrome Disease 1861 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1861 Thoracic dysplasia-hydrocephalus syndrome Malformation syndrome 544469 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=544469 PRUNE1-related neurological syndrome Malformation syndrome 592570 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=592570 TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome Malformation syndrome 610569 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=610569 KIAA1109-related early lethal congenital brain malformations-arthrogryposis syndrome Disease 664410 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=664410 Brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome Malformation syndrome 228384 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228384 5q14.3 microdeletion syndrome Etiological subtype 664416 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=664416 Brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome due to MEF2C mutation Etiological subtype 662189 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=662189 Neurodevelopmental disorder-brain malformation-facial dysmorphism-brachydactyly syndrome Malformation syndrome 662207 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=662207 Neurodevelopmental delay-brain malformations-skeletal defects-intellectual disability syndrome Malformation syndrome 659609 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=659609 Facial dysmorphism-global developmental delay-hypotonia-polymicrogyria syndrome Malformation syndrome 603448 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=603448 Cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome Malformation syndrome 688642 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=688642 Turnpenny-Fry syndrome Malformation syndrome 98062 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98062 Rare nervous system tumor Category 46135 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=46135 Primary central nervous system lymphoma Disease 54595 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=54595 Craniopharyngioma Disease 251558 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251558 Rare tumor of neuroepithelial tissue Category 182067 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=182067 Glial tumor Clinical group 301 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=301 Ependymal tumor Clinical group 530792 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=530792 RELA fusion-positive ependymoma Disease 251646 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251646 Anaplastic ependymoma Disease 251636 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251636 Ependymoma Disease 251639 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251639 Subependymoma Disease 251643 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251643 Myxopapillary ependymoma Disease 94 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94 Astrocytoma Clinical group 251561 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251561 High-grade astrocytoma Clinical group 695136 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=695136 Infant-type hemispheric glioma Disease 715694 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=715694 Infant-type hemispheric glioma NTRK-altered Etiological subtype 715697 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=715697 Infant-type hemispheric glioma ALK-altered Etiological subtype 715701 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=715701 Infant-type hemispheric glioma ROS1-altered Etiological subtype 715704 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=715704 Infant-type hemispheric glioma MET-altered Etiological subtype 715721 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=715721 High-grade astrocytoma with piloid features Disease 715724 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=715724 Diffuse pediatric-type high-grade glioma-H3-wildtype-IDH-wildtype Disease 715950 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=715950 Diffuse hemispheric glioma-H3 G34-mutant Disease 497188 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=497188 Diffuse intrinsic pontine glioma Disease 360 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=360 Glioblastoma Disease 251576 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251576 Gliosarcoma Histopathological subtype 251579 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251579 Giant cell glioblastoma Histopathological subtype 251582 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251582 Gliomatosis cerebri Disease 251589 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251589 Anaplastic astrocytoma Disease 251592 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251592 Low-grade astrocytoma Clinical group 251595 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251595 Diffuse astrocytoma Disease 251598 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251598 Protoplasmic astrocytoma Histopathological subtype 251601 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251601 Fibrillary astrocytoma Histopathological subtype 251604 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251604 Gemistocytic astrocytoma Histopathological subtype 251607 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251607 Pleomorphic xanthoastrocytoma Disease 251612 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251612 Pilocytic astrocytoma Disease 673585 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=673585 Pilocytic astrocytoma with histological features of anaplasia Clinical subtype 673580 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=673580 Classic pilocytic astrocytoma Clinical subtype 251615 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251615 Pilomyxoid astrocytoma Histopathological subtype 251618 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251618 Subependymal giant cell astrocytoma Disease 251623 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251623 Pituicytoma Disease 717268 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=717268 Circumscribed astrocytic glioma Category 46484 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=46484 Oligodendroglial tumor Clinical group 251627 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251627 Oligodendroglioma Disease 251630 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251630 Anaplastic oligodendroglioma Disease 251651 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251651 Oligoastrocytic tumor Clinical group 251656 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251656 Oligoastrocytoma Disease 251663 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251663 Anaplastic oligoastrocytoma Disease 251668 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251668 Glial tumor of neuroepithelial tissue with unknown origin Clinical group 251671 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251671 Angiocentric glioma Disease 251674 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251674 Chordoid glioma Disease 251679 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251679 Astroblastoma Disease 251852 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251852 Embryonal tumor of neuroepithelial tissue Category 616 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=616 Medulloblastoma Disease 251855 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251855 Anaplastic/large cell medulloblastoma Histopathological subtype 251858 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251858 Medulloblastoma with extensive nodularity Histopathological subtype 251863 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251863 Desmoplastic/nodular medulloblastoma Histopathological subtype 251867 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251867 Classic medulloblastoma Histopathological subtype 99966 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99966 Atypical teratoid rhabdoid tumor Disease 251870 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251870 Central nervous system embryonal tumor Clinical group 635 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=635 Neuroblastoma Disease 1957 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1957 Esthesioneuroblastoma Disease 251877 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251877 Ganglioneuroblastoma Disease 656417 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=656417 Embryonal tumor with multilayered rosettes Disease 251896 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251896 Choroid plexus tumor Clinical group 2807 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2807 Papilloma of choroid plexus Disease 251899 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251899 Choroid plexus carcinoma Disease 251902 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251902 Atypical papilloma of choroid plexus Disease 251905 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251905 Pineal tumor of neuroepithelial tissue Clinical group 251909 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251909 Pineoblastoma Disease 251912 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251912 Pineocytoma Disease 251915 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251915 Papillary tumor of the pineal region Disease 251919 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251919 Pineal parenchymal tumor of intermediate differentiation Disease 251924 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251924 Neuronal tumor Clinical group 73256 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=73256 Central neurocytoma Disease 251927 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251927 Extraventricular neurocytoma Disease 251931 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251931 Cerebellar liponeurocytoma Disease 251934 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251934 Mixed neuronal-glial tumor Clinical group 65285 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65285 Lhermitte-Duclos disease Clinical subtype 251937 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251937 Gangliocytoma Disease 251940 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251940 Desmoplastic infantile astrocytoma/ganglioglioma Disease 251946 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251946 Dysembryoplastic neuroepithelial tumor Disease 251949 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251949 Ganglioglioma Disease 251957 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251957 Anaplastic ganglioglioma Disease 251962 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251962 Papillary glioneuronal tumor Disease 251975 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251975 Rosette-forming glioneuronal tumor Disease 251992 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251992 Ganglioneuroma Disease 251995 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251995 Primary germ cell tumor of central nervous system Category 48736 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=48736 Embryonal carcinoma of the central nervous system Clinical subtype 91352 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91352 Germinoma of the central nervous system Clinical subtype 252006 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=252006 Yolk sac tumor of central nervous system Clinical subtype 252015 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=252015 Choriocarcinoma of the central nervous system Disease 252018 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=252018 Teratoma of the central nervous system Clinical subtype 252021 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=252021 Mixed germ cell tumor of central nervous system Clinical subtype 252025 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=252025 Tumor of meninges Category 2495 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2495 Meningioma Disease 252028 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=252028 Primary melanocytic tumor of central nervous system Category 252031 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=252031 Diffuse leptomeningeal melanocytosis Disease 252046 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=252046 Meningeal melanocytoma Disease 252050 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=252050 Primary melanoma of the central nervous system Disease 263662 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263662 Familial multiple meningioma Disease 252054 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=252054 Hemangioblastoma Disease 252057 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=252057 Tumor of cranial and spinal nerves Category 2086 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2086 Optic pathway glioma Disease 3148 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3148 Malignant peripheral nerve sheath tumor Disease 252212 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=252212 Malignant triton tumor Histopathological subtype 252128 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=252128 Malignant peripheral nerve sheath tumor with perineurial differentiation Histopathological subtype 85102 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85102 Perineurioma Clinical group 100002 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100002 Extraneural perineurioma Disease 100000 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100000 Reticular perineurioma Clinical subtype 100001 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100001 Sclerosing perineurioma Clinical subtype 100003 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100003 Intraneural perineurioma Disease 252131 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=252131 Benign peripheral nerve sheath tumor Category 252164 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=252164 Benign schwannoma Disease 252175 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=252175 Vestibular schwannoma Clinical subtype 252183 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=252183 Neurofibroma Disease 300501 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300501 Painful orbital and systemic neurofibromas-marfanoid habitus syndrome Malformation syndrome 590539 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=590539 Isolated melanotic schwannoma Disease 279897 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=279897 Primary oculocerebral lymphoma Disease 98496 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98496 Rare peripheral neuropathy Category 98497 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98497 Genetic peripheral neuropathy Category 459033 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=459033 Ataxia-oculomotor apraxia type 4 Disease 643 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=643 Giant axonal neuropathy Disease 2809 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2809 Familial recurrent peripheral facial palsy Disease 35069 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35069 Infantile neuroaxonal dystrophy Disease 53739 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53739 Distal hereditary motor neuropathy Clinical group 140465 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140465 Autosomal dominant distal hereditary motor neuropathy Category 1216 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1216 Autosomal dominant congenital benign spinal muscular atrophy Disease 100998 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100998 Autosomal dominant spastic paraplegia type 17 Disease 139518 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139518 Distal hereditary motor neuropathy type 1 Disease 139525 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139525 Distal hereditary motor neuropathy type 2 Disease 139536 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139536 Distal hereditary motor neuropathy type 5 Disease 139589 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139589 Distal hereditary motor neuropathy type 7 Disease 397744 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397744 MYH14-related peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome Disease 476093 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=476093 HSPB8-related autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome Disease 140468 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140468 Autosomal recessive distal hereditary motor neuropathy Category 496756 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=496756 Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome Disease 98920 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98920 Spinal muscular atrophy with respiratory distress type 1 Disease 139547 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139547 Distal spinal muscular atrophy type 3 Disease 139552 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139552 Distal hereditary motor neuropathy, Jerash type Disease 314485 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314485 Young adult-onset distal hereditary motor neuropathy Disease 658778 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=658778 COQ7-related distal hereditary motor neuropathy Disease 404538 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404538 X-linked distal hereditary motor neuropathy Category 1145 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1145 Infantile-onset X-linked spinal muscular atrophy Disease 139557 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139557 X-linked distal spinal muscular atrophy type 3 Disease 404521 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404521 Spinal muscular atrophy with respiratory distress type 2 Disease 64753 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=64753 Spinocerebellar ataxia with axonal neuropathy type 2 Disease 94124 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94124 Spinocerebellar ataxia with axonal neuropathy type 1 Disease 140471 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140471 Hereditary sensory and autonomic neuropathy Clinical group 139583 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139583 X-linked hereditary sensory and autonomic neuropathy with deafness Disease 140474 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140474 Autosomal dominant hereditary sensory and autonomic neuropathy Category 36386 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=36386 Hereditary sensory and autonomic neuropathy type 1 Disease 90026 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90026 Primary erythromelalgia Disease 139564 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139564 Hereditary sensory and autonomic neuropathy type 1B Disease 391397 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391397 Hereditary sensory and autonomic neuropathy type 7 Disease 397606 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397606 PrP systemic amyloidosis Disease 456318 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=456318 Hereditary sensory neuropathy-deafness-dementia syndrome Disease 653728 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=653728 Congenital insensitivity to pain syndrome, Marsili type Disease 140477 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140477 Autosomal recessive hereditary sensory and autonomic neuropathy Category 1764 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1764 Familial dysautonomia Disease 642 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=642 Hereditary sensory and autonomic neuropathy type 4 Disease 970 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=970 Hereditary sensory and autonomic neuropathy type 2 Disease 64752 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=64752 Hereditary sensory and autonomic neuropathy type 5 Disease 88642 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88642 Congenital insensitivity to pain-anosmia-neuropathic arthropathy Disease 139573 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139573 Hereditary sensory and autonomic neuropathy with deafness and global delay Disease 139578 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139578 Mutilating hereditary sensory neuropathy with spastic paraplegia Disease 314381 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314381 Hereditary sensory and autonomic neuropathy type 6 Disease 401993 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401993 Cold-induced sweating syndrome-hyperthermia spectrum Clinical group 1545 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1545 Crisponi syndrome Malformation syndrome 157820 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157820 Cold-induced sweating syndrome Disease 603694 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=603694 KLHL7-related Crisponi/cold-induced sweating-like syndrome Disease 603684 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=603684 KLHL7-related Bohring-Opitz-like and Crisponi/Cold-induced sweating-like overlap syndrome Malformation syndrome 320385 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=320385 Hereditary sensory and autonomic neuropathy due to TECPR2 mutation Disease 478664 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=478664 Hereditary sensory and autonomic neuropathy type 8 Disease 653728 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=653728 Congenital insensitivity to pain syndrome, Marsili type Disease 453510 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=453510 Congenital insensitivity to pain with severe intellectual disability Disease 217399 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217399 Congenital insensitivity to pain-hyperhidrosis-absence of cutaneous sensory innervation Disease 163746 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163746 Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease Disease 169464 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169464 Primary CD59 deficiency Disease 207015 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=207015 Rare hereditary disease with peripheral neuropathy Category 167 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=167 Chédiak-Higashi syndrome Disease 869 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=869 Triple A syndrome Disease 171848 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171848 Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome Disease 207018 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=207018 Rare hereditary metabolic disease with peripheral neuropathy Category 118 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=118 Beta-mannosidosis Disease 796 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=796 Sandhoff disease Disease 309155 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309155 Sandhoff disease, infantile form Clinical subtype 309162 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309162 Sandhoff disease, juvenile form Clinical subtype 309169 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309169 Sandhoff disease, adult form Clinical subtype 324 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324 Fabry disease Disease 512 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=512 Metachromatic leukodystrophy Disease 309256 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309256 Metachromatic leukodystrophy, late infantile form Clinical subtype 309263 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309263 Metachromatic leukodystrophy, juvenile form Clinical subtype 309271 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309271 Metachromatic leukodystrophy, adult form Clinical subtype 905 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=905 Wilson disease Disease 96 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96 Ataxia with vitamin E deficiency Disease 14 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=14 Abetalipoproteinemia Disease 773 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=773 Adult Refsum disease Disease 395 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=395 Homocystinuria due to methylene tetrahydrofolate reductase deficiency Disease 909 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=909 Cerebrotendinous xanthomatosis Disease 845 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=845 Tay-Sachs disease Disease 309178 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309178 Tay-Sachs disease, infantile form Clinical subtype 309185 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309185 Tay-Sachs disease, juvenile form Clinical subtype 309192 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309192 Tay-Sachs disease, adult form Clinical subtype 2388 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2388 Choreoacanthocytosis Disease 2962 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2962 De Barsy syndrome Disease 35664 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35664 ALDH18A1-related De Barsy syndrome Etiological subtype 293633 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293633 PYCR1-related De Barsy syndrome Etiological subtype 746 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=746 Mitochondrial trifunctional protein deficiency Disease 414 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=414 Gyrate atrophy of choroid and retina Disease 882 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=882 Tyrosinemia type 1 Disease 5 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=5 Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency Disease 31150 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=31150 Tangier disease Disease 77293 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77293 Chronic visceral acid sphingomyelinase deficiency Disease 79095 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79095 Congenital bile acid synthesis defect type 4 Disease 79189 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79189 Peroxisome biogenesis disorder Clinical group 912 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=912 Zellweger syndrome Disease 44 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=44 Neonatal adrenoleukodystrophy Disease 772 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=772 Infantile Refsum disease Disease 79241 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79241 Biotinidase deficiency Disease 79282 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79282 Methylmalonic acidemia with homocystinuria, type cblC Clinical subtype 95157 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95157 Acute hepatic porphyria Clinical group 79273 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79273 Hereditary coproporphyria Disease 79276 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79276 Acute intermittent porphyria Disease 79473 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79473 Variegate porphyria Disease 100924 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100924 Porphyria due to ALA dehydratase deficiency Disease 139399 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139399 Adrenomyeloneuropathy Clinical subtype 206583 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206583 Adult polyglucosan body disease Clinical subtype 225703 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=225703 Mitochondrial disease with peripheral neuropathy Category 480 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480 Kearns-Sayre syndrome Disease 550 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=550 MELAS Disease 551 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=551 MERRF Disease 644 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=644 NARP syndrome Disease 765 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=765 Pyruvate dehydrogenase deficiency Disease 2394 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2394 Pyruvate dehydrogenase E3 deficiency Clinical subtype 79243 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79243 Pyruvate dehydrogenase E1-alpha deficiency Clinical subtype 79244 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79244 Pyruvate dehydrogenase E2 deficiency Clinical subtype 79246 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79246 Pyruvate dehydrogenase phosphatase deficiency Clinical subtype 255138 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=255138 Pyruvate dehydrogenase E1-beta deficiency Clinical subtype 255182 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=255182 Pyruvate dehydrogenase E3-binding protein deficiency Clinical subtype 506 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=506 Leigh syndrome Disease 31 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=31 Oxoglutaric aciduria Disease 726 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=726 Alpers-Huttenlocher syndrome Disease 24 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=24 Fumaric aciduria Disease 298 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=298 Mitochondrial neurogastrointestinal encephalomyopathy Disease 35656 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35656 Coenzyme Q10 deficiency Clinical group 139485 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139485 Autosomal recessive ataxia due to ubiquinone deficiency Disease 254898 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254898 Deafness-encephaloneuropathy-obesity-valvulopathy syndrome Disease 280406 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280406 Familial steroid-resistant nephrotic syndrome with sensorineural deafness Disease 319678 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319678 Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome Disease 457185 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457185 Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome Disease 658778 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=658778 COQ7-related distal hereditary motor neuropathy Disease 70595 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=70595 Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome Disease 85282 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85282 MEHMO syndrome Malformation syndrome 70472 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=70472 Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type Disease 436174 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=436174 Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome Disease 436271 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=436271 Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy Disease 543470 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=543470 Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome Disease 611237 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=611237 Parkinsonism with polyneuropathy Disease 496790 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=496790 Ocular anomalies-axonal neuropathy-developmental delay syndrome Disease 521268 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=521268 Sodium-dependent multivitamin transporter deficiency Disease 527276 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=527276 Encephalopathy due to mitochondrial and peroxisomal fission defect Disease 330050 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=330050 DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect Etiological subtype 485421 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=485421 MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect Etiological subtype 207021 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=207021 Rare hereditary systemic disease with peripheral neuropathy Category 31150 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=31150 Tangier disease Disease 85447 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85447 ATTRV30M amyloidosis Clinical subtype 85448 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85448 AGel amyloidosis Disease 485418 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=485418 EMILIN-1-related connective tissue disease Disease 207025 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=207025 Rare hereditary neurologic disease with peripheral neuropathy Category 207028 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=207028 Cerebellar ataxia with peripheral neuropathy Category 95 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95 Friedreich ataxia Disease 559 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=559 Marinesco-Sjögren syndrome Disease 48431 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=48431 Congenital cataracts-facial dysmorphism-neuropathy syndrome Malformation syndrome 504476 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=504476 Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome Disease 694922 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=694922 Childhood-onset stress-induced neurodegenerative ataxia-seizure syndrome Disease 589522 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589522 Spinocerebellar ataxia type 46 Disease 610573 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=610573 CLCN6-related childhood-onset progressive neurodegeneration-peripheral neuropathy syndrome Disease 694937 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=694937 Intellectual disability-peripheral neuropathy-corpus callosum abnormalities syndrome due to nudix hydrolase 2 deficiency Malformation syndrome 1239 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1239 Behr syndrome Malformation syndrome 352723 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352723 Attenuated Chédiak-Higashi syndrome Disease 231013 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231013 Congenital trigeminal anesthesia Disease 306577 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306577 Hereditary sodium channelopathy-related small fibers neuropathy Disease 391384 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391384 Familial episodic pain syndrome Disease 391389 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391389 Familial episodic pain syndrome with predominantly upper body involvement Clinical subtype 391392 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391392 Familial episodic pain syndrome with predominantly lower limb involvement Clinical subtype 166 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166 Charcot-Marie-Tooth disease/Hereditary motor and sensory neuropathy Category 64747 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=64747 X-linked Charcot-Marie-Tooth disease Clinical group 99014 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99014 X-linked Charcot-Marie-Tooth disease type 5 Disease 101075 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101075 X-linked Charcot-Marie-Tooth disease type 1 Disease 101076 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101076 X-linked Charcot-Marie-Tooth disease type 2 Disease 101077 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101077 X-linked Charcot-Marie-Tooth disease type 3 Disease 101078 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101078 X-linked Charcot-Marie-Tooth disease type 4 Disease 352675 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352675 X-linked Charcot-Marie-Tooth disease type 6 Disease 2926 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2926 Digital extensor muscle aplasia-polyneuropathy Malformation syndrome 431320 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=431320 Spastic paraplegia-optic atrophy-neuropathy and spastic paraplegia-optic atrophy-neuropathy-related disorder Clinical group 320406 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=320406 Spastic paraplegia-optic atrophy-neuropathy syndrome Disease 431329 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=431329 Autosomal recessive spastic paraplegia type 57 Disease 468661 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=468661 Autosomal recessive spastic paraplegia type 74 Disease 320375 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=320375 Autosomal recessive spastic paraplegia type 55 Disease 476109 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=476109 Axonal hereditary motor and sensory neuropathy Clinical group 91024 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91024 Autosomal recessive axonal hereditary motor and sensory neuropathy Clinical group 466775 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466775 Autosomal recessive Charcot-Marie-Tooth disease type 2X Disease 466794 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466794 Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome Disease 101097 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101097 Autosomal recessive Charcot-Marie-Tooth disease with hoarseness Disease 101101 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101101 Charcot-Marie-Tooth disease type 2B2 Disease 101102 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101102 Charcot-Marie-Tooth disease type 2H Disease 228374 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228374 Charcot-Marie-Tooth disease type 2B5 Disease 300319 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300319 Charcot-Marie-Tooth disease type 2P Disease 324442 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324442 Autosomal recessive axonal neuropathy with neuromyotonia Disease 397968 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397968 Charcot-Marie-Tooth disease type 2R Disease 423894 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423894 Microcephaly-complex motor and sensory axonal neuropathy syndrome Disease 443073 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443073 Charcot-Marie-Tooth disease type 2S Disease 443950 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443950 DNAJB2-related Charcot-Marie-Tooth disease type 2 Disease 90118 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90118 Severe early-onset axonal neuropathy due to MFN2 deficiency Disease 90119 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90119 Hereditary motor and sensory neuropathy with acrodystrophy Disease 98856 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98856 Charcot-Marie-Tooth disease type 2B1 Disease 457205 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457205 Infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome Disease 90120 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90120 Hereditary motor and sensory neuropathy type 6 Disease 495274 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=495274 Charcot-Marie-Tooth disease type 2T Disease 538096 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=538096 Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy Disease 521411 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=521411 Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect Disease 700508 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700508 Distal muscle weakness-foot deformity-elevated sorbitol level-hereditary motor neuropathy Disease 538101 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=538101 Congenital axonal neuropathy with encephalopathy Disease 140456 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140456 Autosomal dominant hereditary axonal motor and sensory neuropathy Category 538574 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=538574 Palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome Disease 1215 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1215 Autosomal dominant optic atrophy plus syndrome Disease 64746 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=64746 Autosomal dominant Charcot-Marie-Tooth disease type 2 Clinical group 99936 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99936 Autosomal dominant Charcot-Marie-Tooth disease type 2B Disease 99937 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99937 Autosomal dominant Charcot-Marie-Tooth disease type 2C Disease 99938 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99938 Autosomal dominant Charcot-Marie-Tooth disease type 2D Disease 99939 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99939 Autosomal dominant Charcot-Marie-Tooth disease type 2E Disease 99940 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99940 Autosomal dominant Charcot-Marie-Tooth disease type 2F Disease 99942 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99942 Autosomal dominant Charcot-Marie-Tooth disease type 2I Disease 99943 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99943 Autosomal dominant Charcot-Marie-Tooth disease type 2J Disease 99944 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99944 Autosomal dominant Charcot-Marie-Tooth disease type 2K Disease 99945 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99945 Autosomal dominant Charcot-Marie-Tooth disease type 2L Disease 99946 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99946 Autosomal dominant Charcot-Marie-Tooth disease type 2A1 Disease 99947 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99947 Autosomal dominant Charcot-Marie-Tooth disease type 2A2 Disease 228174 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228174 Autosomal dominant Charcot-Marie-Tooth disease type 2N Disease 228179 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228179 Autosomal dominant Charcot-Marie-Tooth disease type 2M Disease 284232 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284232 Autosomal dominant Charcot-Marie-Tooth disease type 2O Disease 300319 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300319 Charcot-Marie-Tooth disease type 2P Disease 324611 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324611 Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation Disease 329258 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329258 Autosomal dominant Charcot-Marie-Tooth disease type 2Q Disease 397735 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397735 Autosomal dominant Charcot-Marie-Tooth disease type 2U Disease 401964 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401964 Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons Disease 435387 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=435387 Autosomal dominant Charcot-Marie-Tooth disease type 2Y Disease 435819 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=435819 Autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation Disease 447964 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447964 Autosomal dominant Charcot-Marie-Tooth disease type 2V Disease 466768 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466768 Autosomal dominant Charcot-Marie-Tooth disease type 2Z Disease 487814 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=487814 Autosomal dominant Charcot-Marie-Tooth disease type 2 due to DGAT2 mutation Disease 488333 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488333 Autosomal dominant Charcot-Marie-Tooth disease type 2W Disease 497757 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=497757 MME-related autosomal dominant Charcot Marie Tooth disease type 2 Disease 521414 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=521414 Autosomal dominant Charcot-Marie-Tooth disease type 2DD Disease 64751 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=64751 Hereditary motor and sensory neuropathy type 5 Disease 90117 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90117 Hereditary motor and sensory neuropathy, Okinawa type Disease 90120 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90120 Hereditary motor and sensory neuropathy type 6 Disease 476116 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=476116 Demyelinating hereditary motor and sensory neuropathy Clinical group 140453 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140453 Autosomal dominant hereditary demyelinating motor and sensory neuropathy Category 640 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=640 Hereditary neuropathy with liability to pressure palsies Malformation syndrome 3115 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3115 Roussy-Lévy syndrome Disease 65753 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65753 Charcot-Marie-Tooth disease type 1 Clinical group 90658 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90658 Charcot-Marie-Tooth disease type 1E Disease 101081 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101081 Charcot-Marie-Tooth disease type 1A Disease 101082 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101082 Charcot-Marie-Tooth disease type 1B Disease 101083 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101083 Charcot-Marie-Tooth disease type 1C Disease 101084 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101084 Charcot-Marie-Tooth disease type 1D Disease 101085 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101085 Charcot-Marie-Tooth disease type 1F Disease 84093 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=84093 Hereditary thermosensitive neuropathy Disease 139512 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139512 Neuropathy with hearing impairment Disease 140481 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140481 Autosomal dominant slowed nerve conduction velocity Disease 631248 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=631248 Mitchell Syndrome Disease 476394 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=476394 PMP2-related Charcot-Marie-Tooth disease type 1 Disease 280598 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280598 Hereditary sensorimotor neuropathy with hyperelastic skin Disease 64748 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=64748 Dejerine-Sottas syndrome Disease 477817 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=477817 PMP22-RAI1 contiguous gene duplication syndrome Malformation syndrome 140459 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140459 Autosomal recessive hereditary demyelinating motor and sensory neuropathy Category 48431 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=48431 Congenital cataracts-facial dysmorphism-neuropathy syndrome Malformation syndrome 64749 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=64749 Charcot-Marie-Tooth disease type 4 Clinical group 99948 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99948 Charcot-Marie-Tooth disease type 4A Disease 99949 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99949 Charcot-Marie-Tooth disease type 4C Disease 99950 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99950 Charcot-Marie-Tooth disease type 4D Disease 99951 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99951 Charcot-Marie-Tooth disease type 4E Disease 99952 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99952 Charcot-Marie-Tooth disease type 4F Disease 99953 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99953 Charcot-Marie-Tooth disease type 4G Disease 99954 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99954 Charcot-Marie-Tooth disease type 4H Disease 99955 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99955 Charcot-Marie-Tooth disease type 4B1 Disease 99956 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99956 Charcot-Marie-Tooth disease type 4B2 Disease 139515 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139515 Charcot-Marie-Tooth disease type 4J Disease 363981 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363981 Charcot-Marie-Tooth disease type 4B3 Disease 391351 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391351 SURF1-related Charcot-Marie-Tooth disease type 4 Disease 90103 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90103 Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome Malformation syndrome 64748 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=64748 Dejerine-Sottas syndrome Disease 453533 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=453533 Polyendocrine-polyneuropathy syndrome Disease 686999 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=686999 Lipodystrophy-demyelinating peripheral sensory-motor neuropathy syndrome Disease 456312 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=456312 Infantile multisystem neurologic-endocrine-pancreatic disease Disease 476123 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=476123 Intermediate Charcot-Marie-Tooth disease Clinical group 90114 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90114 Autosomal dominant intermediate Charcot-Marie-Tooth disease Clinical group 93114 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93114 Autosomal dominant intermediate Charcot-Marie-Tooth disease type E Disease 100043 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100043 Autosomal dominant intermediate Charcot-Marie-Tooth disease type A Disease 100044 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100044 Autosomal dominant intermediate Charcot-Marie-Tooth disease type B Disease 100045 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100045 Autosomal dominant intermediate Charcot-Marie-Tooth disease type C Disease 100046 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100046 Autosomal dominant intermediate Charcot-Marie-Tooth disease type D Disease 324585 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324585 Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain Disease 352670 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352670 Autosomal dominant intermediate Charcot-Marie-Tooth disease type F Disease 268337 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268337 Autosomal recessive intermediate Charcot-Marie-Tooth disease Clinical group 217055 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217055 Autosomal recessive intermediate Charcot-Marie-Tooth disease type A Disease 254334 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254334 Autosomal recessive intermediate Charcot-Marie-Tooth disease type B Disease 369867 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369867 Autosomal recessive intermediate Charcot-Marie-Tooth disease type C Disease 435998 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=435998 Autosomal recessive intermediate Charcot-Marie-Tooth disease type D Disease 182086 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=182086 Acquired peripheral neuropathy Category 2901 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2901 Neuralgic amyotrophy Disease 60039 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=60039 Pudendal nerve entrapment syndrome Disease 206613 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206613 Infectious disease with peripheral neuropathy Category 3020 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3020 Ramsay Hunt syndrome Disease 548 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=548 Leprosy Disease 91546 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91546 Lyme disease Disease 207038 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=207038 Acute and subacute inflammatory demyelinating polyneuropathy Category 2103 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2103 Guillain-Barré syndrome Clinical group 98916 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98916 Acute inflammatory demyelinating polyradiculoneuropathy Disease 98917 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98917 Acute motor and sensory axonal neuropathy Disease 98918 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98918 Acute motor axonal neuropathy Disease 231413 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231413 Variant of Guillain-Barré syndrome Category 231416 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231416 Regional variant of Guillain-Barré syndrome Clinical group 79138 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79138 Bickerstaff brainstem encephalitis Disease 98919 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98919 Miller Fisher syndrome Disease 231426 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231426 Pharyngeal-cervical-brachial variant of Guillain-Barré syndrome Disease 480701 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480701 Facial diplegia with paresthesias Disease 231419 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231419 Functional variant of Guillain-Barré syndrome Clinical group 231445 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231445 Paraparetic variant of Guillain-Barré syndrome Disease 231450 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231450 Acute pure sensory neuropathy Disease 231457 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231457 Acute pandysautonomia Disease 231466 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231466 Acute sensory ataxic neuropathy Disease 206594 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206594 Subacute inflammatory demyelinating polyneuropathy Disease 208974 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=208974 Chronic acquired demyelinating polyneuropathy Clinical group 2905 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2905 POEMS syndrome Disease 641 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=641 Multifocal motor neuropathy Disease 71279 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71279 CANOMAD syndrome Disease 208978 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=208978 Chronic polyradiculoneuropathy Clinical group 2932 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2932 Chronic inflammatory demyelinating polyneuropathy Disease 48162 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=48162 Lewis-Sumner syndrome Clinical subtype 208984 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=208984 Acquired sensory ganglionopathy Category 208989 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=208989 Non-paraneoplastic sensory ganglionopathy Disease 208999 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=208999 Paraneoplastic sensory ganglionopathy Disease 209007 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209007 Systemic inflammatory disease associated with an acquired peripheral neuropathy Category 797 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=797 Sarcoidosis Disease 183 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183 Eosinophilic granulomatosis with polyangiitis Disease 727 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=727 Microscopic polyangiitis Disease 900 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=900 Granulomatosis with polyangiitis Disease 767 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=767 Polyarteritis nodosa Disease 439737 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=439737 Primary polyarteritis nodosa Clinical subtype 439729 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=439729 Cutaneous polyarteritis nodosa Clinical subtype 439755 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=439755 Single-organ polyarteritis nodosa Clinical subtype 439762 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=439762 Systemic polyarteritis nodosa Clinical subtype 439746 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=439746 Secondary polyarteritis nodosa Clinical subtype 809 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=809 Mixed connective tissue disease Disease 91138 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91138 Cryoglobulinemic vasculitis Disease 93554 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93554 Mixed cryoglobulinemia type II Etiological subtype 93555 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93555 Mixed cryoglobulinemia type III Etiological subtype 209010 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209010 Peripheral neuropathy associated with monoclonal gammopathy Category 2905 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2905 POEMS syndrome Disease 71279 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71279 CANOMAD syndrome Disease 91139 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91139 Simple cryoglobulinemia Disease 209004 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209004 Polyneuropathy associated with IgM monoclonal gammopathy Disease 209013 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209013 Acquired amyloid peripheral neuropathy Category 85443 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85443 AL amyloidosis Disease 314701 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314701 Primary systemic amyloidosis Clinical subtype 314709 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314709 Primary localized amyloidosis Clinical subtype 85445 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85445 AA amyloidosis Disease 209016 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209016 Hematological disease associated with an acquired peripheral neuropathy Category 2905 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2905 POEMS syndrome Disease 29073 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=29073 Multiple myeloma Disease 86855 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86855 Plasmacytoma Disease 100021 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100021 Primary plasmacytoma of the bone Clinical subtype 100022 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100022 Extramedullary soft tissue plasmacytoma Clinical subtype 207046 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=207046 Malignant lymphoma with peripheral neuropathy Category 33226 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33226 Waldenström macroglobulinemia Disease 206586 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206586 Neurolymphomatosis Disease 209019 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209019 Solid tumor associated with an acquired peripheral neuropathy Category 221109 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=221109 Cranial neuralgia Clinical group 221078 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=221078 Combined hyperactive dysfunction syndrome of the cranial nerves Disease 221091 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=221091 Trigeminal neuralgia Disease 221098 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=221098 Glossopharyngeal neuralgia Disease 664901 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=664901 Trigeminal trophic syndrome Disease 221114 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=221114 Acquired peripheral movement disorder Category 83467 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83467 Morvan syndrome Disease 84142 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=84142 Isaacs syndrome Disease 439202 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=439202 Non-recovering obstetric brachial plexus lesion Disease 521123 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=521123 Radiation-induced plexopathy Disease 658549 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=658549 Idiopathic small fibers neuropathy Disease 662240 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=662240 Frey syndrome Clinical syndrome 100073 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100073 Neurogenic thoracic outlet syndrome Clinical subtype 137932 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137932 Congenital laryngeal palsy Malformation syndrome 51890 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=51890 Anterior cutaneous nerve entrapment syndrome Disease 2048 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2048 Foix-Chavany-Marie syndrome Malformation syndrome 2406 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2406 Locked-in syndrome Clinical syndrome 1314 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1314 Symmetrical thalamic calcifications Disease 2047 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2047 Flynn-Aird syndrome Disease 466658 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466658 Rare disease with malignant hyperthermia Category 598 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=598 Multiminicore myopathy Disease 98905 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98905 Congenital multicore myopathy with external ophthalmoplegia Clinical subtype 178145 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178145 Moderate multiminicore disease with hand involvement Clinical subtype 178148 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178148 Antenatal multiminicore disease with arthrogryposis multiplex congenita Clinical subtype 324604 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324604 Classic multiminicore myopathy Clinical subtype 94093 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94093 Neuroleptic malignant syndrome Disease 43116 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=43116 Serotonin syndrome Disease 423 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423 Malignant hyperthermia of anesthesia Disease 466650 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466650 Exercise-induced malignant hyperthermia Disease 99741 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99741 King-Denborough syndrome Malformation syndrome 2215 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2215 Multiple pterygium-malignant hyperthermia syndrome Malformation syndrome 168572 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168572 Native American myopathy Malformation syndrome 521236 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=521236 Primary orthostatic disorder Category 182058 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=182058 Primary orthostatic hypotension Clinical group 1764 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1764 Familial dysautonomia Disease 2828 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2828 Young-onset Parkinson disease Disease 2400 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2400 Peripheral motor neuropathy-dysautonomia syndrome Disease 441 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=441 Pure autonomic failure Disease 230 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=230 Dopamine beta-hydroxylase deficiency Disease 102 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=102 Multiple system atrophy Disease 98933 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98933 Multiple system atrophy, parkinsonian type Clinical subtype 227510 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=227510 Multiple system atrophy, cerebellar type Clinical subtype 411602 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=411602 Hereditary late-onset Parkinson disease Disease 443236 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443236 Postural orthostatic tachycardia syndrome due to NET deficiency Disease 686468 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=686468 Post 5-alpha-reductase inhibitors treatment syndrome Disease 686475 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=686475 Post-selective serotonin reuptake inhibitor sexual dysfunction Disease