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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
USP18 deficiency
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
529864
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=529864
Secondary erythromelalgia
Disease
363746
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363746
Balint syndrome
Disease
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
656273
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=656273
Hypotonia-hypoventilation-intellectual disability-dysautonomia-epilepsy-eye abnormalities syndrome
Clinical syndrome
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
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
1647
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1647
Oculocerebrocutaneous syndrome
Malformation syndrome
2574
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2574
Moynahan syndrome
Malformation syndrome
2804
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2804
W syndrome
Malformation syndrome
2836
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2836
PEHO syndrome
Disease
1192
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1192
Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome
Malformation syndrome
79134
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79134
DEND syndrome
Disease
98257
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98257
Neonatal epilepsy syndrome
Category
1934
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1934
Early infantile epileptic encephalopathy
Clinical syndrome
1935
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1935
Early myoclonic encephalopathy
Clinical syndrome
1949
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1949
Benign familial neonatal epilepsy
Disease
64545
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=64545
Benign idiopathic neonatal seizures
Disease
209370
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209370
Severe neonatal-onset encephalopathy with microcephaly
Disease
293181
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293181
Malignant migrating focal seizures of infancy
Disease
353217
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=353217
Epileptic encephalopathy with global cerebral demyelination
Disease
442835
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=442835
Non-specific early-onset epileptic encephalopathy
Disease
98258
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98258
Infantile epilepsy syndrome
Category
1943
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1943
Early-onset progressive encephalopathy with migrant continuous myoclonus
Disease
3451
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3451
Infantile spasms syndrome
Clinical syndrome
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
Generalized epilepsy with febrile seizures-plus
Disease
86908
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86908
Idiopathic hemiconvulsion-hemiplegia syndrome
Disease
86909
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86909
Myoclonic epilepsy of infancy
Disease
86913
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86913
Myoclonic epilepsy in non-progressive encephalopathies
Malformation syndrome
166311
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166311
Benign partial infantile seizures
Clinical group
569
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=569
Familial or sporadic hemiplegic migraine
Disease
306
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306
Benign familial infantile epilepsy
Disease
31709
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=31709
Infantile convulsions and choreoathetosis
Disease
140927
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140927
Benign familial neonatal-infantile seizures
Disease
166295
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166295
Benign non-familial infantile seizures
Clinical group
166299
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166299
Benign partial epilepsy of infancy with complex partial seizures
Disease
166302
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166302
Benign partial epilepsy with secondarily generalized seizures in infancy
Disease
166305
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166305
Benign infantile seizures associated with mild gastroenteritis
Disease
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
352582
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352582
Familial infantile myoclonic epilepsy
Disease
352596
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352596
Progressive myoclonic epilepsy with dystonia
Disease
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
442835
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=442835
Non-specific early-onset epileptic encephalopathy
Disease
544254
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=544254
SYNGAP1-related developmental and epileptic encephalopathy
Disease
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
Myoclonic-astatic epilepsy
Disease
309
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309
Familial partial epilepsy
Clinical group
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
1945
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1945
Rolandic epilepsy
Disease
36387
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=36387
Generalized epilepsy with febrile seizures-plus
Disease
64280
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=64280
Childhood absence epilepsy
Disease
79137
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79137
Generalized epilepsy-paroxysmal dyskinesia syndrome
Disease
98784
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98784
Autosomal dominant nocturnal frontal lobe epilepsy
Disease
98819
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98819
Familial temporal lobe epilepsy
Disease
98820
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98820
Familial focal epilepsy with variable foci
Disease
99701
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99701
Mesial temporal lobe epilepsy with hippocampal sclerosis
Disease
101046
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101046
Autosomal dominant epilepsy with auditory features
Disease
163717
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163717
Benign familial mesial temporal lobe epilepsy
Disease
165805
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=165805
Familial mesial temporal lobe epilepsy with febrile seizures
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 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 seizures
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 seizures
Disease
166424
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166424
Thinking seizures
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
Micturation-induced seizures
Disease
166433
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166433
Reading seizures
Disease
725
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=725
Continuous spikes and waves during sleep
Disease
25968
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=25968
Benign occipital epilepsy
Disease
98815
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98815
Benign childhood occipital epilepsy, Panayiotopoulos type
Clinical subtype
98816
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98816
Benign childhood occipital epilepsy, Gastaut type
Clinical subtype
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
Malformation syndrome
1947
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1947
Progressive epilepsy-intellectual disability syndrome, Finnish type
Disease
79262
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79262
Adult neuronal ceroid lipofuscinosis
Disease
79263
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79263
Infantile neuronal ceroid lipofuscinosis
Disease
263516
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263516
Progressive myoclonic epilepsy type 3
Clinical subtype
79264
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79264
Juvenile neuronal ceroid lipofuscinosis
Disease
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
168486
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168486
Congenital neuronal ceroid lipofuscinosis
Disease
168491
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168491
Late infantile neuronal ceroid lipofuscinosis
Disease
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
Early-onset Lafora body disease
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
457265
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457265
Progressive myoclonic epilepsy type 9
Disease
2590
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2590
Spinal muscular atrophy-progressive myoclonic epilepsy syndrome
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
86908
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86908
Idiopathic hemiconvulsion-hemiplegia syndrome
Disease
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
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
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
1945
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1945
Rolandic epilepsy
Disease
36387
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=36387
Generalized epilepsy with febrile seizures-plus
Disease
64280
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=64280
Childhood absence epilepsy
Disease
79137
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79137
Generalized epilepsy-paroxysmal dyskinesia syndrome
Disease
98784
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98784
Autosomal dominant nocturnal frontal lobe epilepsy
Disease
98819
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98819
Familial temporal lobe epilepsy
Disease
98820
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98820
Familial focal epilepsy with variable foci
Disease
99701
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99701
Mesial temporal lobe epilepsy with hippocampal sclerosis
Disease
101046
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101046
Autosomal dominant epilepsy with auditory features
Disease
163717
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163717
Benign familial mesial temporal lobe epilepsy
Disease
165805
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=165805
Familial mesial temporal lobe epilepsy with febrile seizures
Disease
1544
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1544
Benign focal seizures of adolescence
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 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 seizures
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 seizures
Disease
166424
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166424
Thinking seizures
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
Micturation-induced seizures
Disease
166433
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166433
Reading seizures
Disease
86814
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86814
Benign adult familial myoclonic epilepsy
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
Malformation syndrome
1947
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1947
Progressive epilepsy-intellectual disability syndrome, Finnish type
Disease
79262
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79262
Adult neuronal ceroid lipofuscinosis
Disease
79263
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79263
Infantile neuronal ceroid lipofuscinosis
Disease
263516
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263516
Progressive myoclonic epilepsy type 3
Clinical subtype
79264
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79264
Juvenile neuronal ceroid lipofuscinosis
Disease
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
168486
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168486
Congenital neuronal ceroid lipofuscinosis
Disease
168491
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168491
Late infantile neuronal ceroid lipofuscinosis
Disease
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
Early-onset Lafora body disease
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
457265
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457265
Progressive myoclonic epilepsy type 9
Disease
2590
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2590
Spinal muscular atrophy-progressive myoclonic epilepsy syndrome
Disease
363558
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363558
New-onset refractory status epilepticus
Disease
99807
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99807
PEHO-like syndrome
Disease
163681
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163681
CNTNAP2-related developmental and epileptic encephalopathy
Disease
163696
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163696
Action myoclonus-renal failure syndrome
Disease
99989
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99989
Intermediate DEND syndrome
Disease
599373
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=599373
STXBP1-related encephalopathy
Disease
166466
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166466
Neurocutaneous syndrome with epilepsy
Category
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
Tetrasomy 12p
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
Malformation syndrome
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
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
Progressive epilepsy-intellectual disability syndrome, Finnish type
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
101039
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101039
Female restricted epilepsy with intellectual disability
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 epileptic encephalopathy
Clinical syndrome
3451
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3451
Infantile spasms syndrome
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
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
1945
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1945
Rolandic epilepsy
Disease
36387
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=36387
Generalized epilepsy with febrile seizures-plus
Disease
64280
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=64280
Childhood absence epilepsy
Disease
79137
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79137
Generalized epilepsy-paroxysmal dyskinesia syndrome
Disease
98784
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98784
Autosomal dominant nocturnal frontal lobe epilepsy
Disease
98819
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98819
Familial temporal lobe epilepsy
Disease
98820
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98820
Familial focal epilepsy with variable foci
Disease
99701
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99701
Mesial temporal lobe epilepsy with hippocampal sclerosis
Disease
101046
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101046
Autosomal dominant epilepsy with auditory features
Disease
163717
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163717
Benign familial mesial temporal lobe epilepsy
Disease
165805
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=165805
Familial mesial temporal lobe epilepsy with febrile seizures
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
Malignant migrating focal seizures of infancy
Disease
1934
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1934
Early infantile 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
Severe neonatal-onset encephalopathy with microcephaly
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
439218
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=439218
KCNQ2-related 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
505652
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=505652
CDKL5-deficiency disorder
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
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
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
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
1945
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1945
Rolandic epilepsy
Disease
36387
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=36387
Generalized epilepsy with febrile seizures-plus
Disease
64280
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=64280
Childhood absence epilepsy
Disease
79137
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79137
Generalized epilepsy-paroxysmal dyskinesia syndrome
Disease
98784
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98784
Autosomal dominant nocturnal frontal lobe epilepsy
Disease
98819
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98819
Familial temporal lobe epilepsy
Disease
98820
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98820
Familial focal epilepsy with variable foci
Disease
99701
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99701
Mesial temporal lobe epilepsy with hippocampal sclerosis
Disease
101046
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101046
Autosomal dominant epilepsy with auditory features
Disease
163717
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163717
Benign familial mesial temporal lobe epilepsy
Disease
165805
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=165805
Familial mesial temporal lobe epilepsy with febrile seizures
Disease
306
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306
Benign familial infantile epilepsy
Disease
140927
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140927
Benign familial neonatal-infantile seizures
Disease
166478
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166478
Cerebral malformation with epilepsy
Category
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
Hypothalamic hamartomas with gelastic seizures
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
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
1947
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1947
Progressive epilepsy-intellectual disability syndrome, Finnish type
Disease
79262
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79262
Adult neuronal ceroid lipofuscinosis
Disease
79263
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79263
Infantile neuronal ceroid lipofuscinosis
Disease
263516
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263516
Progressive myoclonic epilepsy type 3
Clinical subtype
79264
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79264
Juvenile neuronal ceroid lipofuscinosis
Disease
168486
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168486
Congenital neuronal ceroid lipofuscinosis
Disease
168491
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168491
Late infantile neuronal ceroid lipofuscinosis
Disease
314632
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314632
ATP13A2-related juvenile neuronal ceroid lipofuscinosis
Disease
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
79253
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79253
Mild phenylketonuria
Clinical subtype
79254
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79254
Classic phenylketonuria
Clinical subtype
79651
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79651
Mild hyperphenylalaninemia
Clinical subtype
293284
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293284
Tetrahydrobiopterin-responsive hyperphenylalaninemia/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
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
1168
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1168
Ataxia-oculomotor apraxia type 1
Disease
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
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 epilepsy
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
Pyridoxal phosphate-responsive seizures
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
86908
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86908
Idiopathic hemiconvulsion-hemiplegia syndrome
Disease
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
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
157823
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157823
Klüver-Bucy syndrome
Clinical syndrome
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 27
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
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
Category
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
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
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
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
ATP13A2-related juvenile neuronal ceroid lipofuscinosis
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-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
2289
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2289
Neuronal intranuclear inclusion 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-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
31709
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=31709
Infantile convulsions and choreoathetosis
Disease
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
31709
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=31709
Infantile convulsions and choreoathetosis
Disease
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
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
Benign adult familial 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
Malformation syndrome
1947
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1947
Progressive epilepsy-intellectual disability syndrome, Finnish type
Disease
79262
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79262
Adult neuronal ceroid lipofuscinosis
Disease
79263
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79263
Infantile neuronal ceroid lipofuscinosis
Disease
263516
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263516
Progressive myoclonic epilepsy type 3
Clinical subtype
79264
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79264
Juvenile neuronal ceroid lipofuscinosis
Disease
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
168486
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168486
Congenital neuronal ceroid lipofuscinosis
Disease
168491
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168491
Late infantile neuronal ceroid lipofuscinosis
Disease
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
Early-onset Lafora body disease
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
457265
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457265
Progressive myoclonic epilepsy type 9
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
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
Brain calcification, Rajab type
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
592885
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=592885
Isolated optic neuritis without anti-MOG antibodies
Clinical subtype
592888
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=592888
Isolated optic neuritis with anti-MOG antibodies
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
639
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=639
Polyneuropathy associated with IgM monoclonal gammopathy with anti-MAG
Disease
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
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
157823
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157823
Klüver-Bucy syndrome
Clinical syndrome
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
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
1947
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1947
Progressive epilepsy-intellectual disability syndrome, Finnish type
Disease
79262
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79262
Adult neuronal ceroid lipofuscinosis
Disease
79263
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79263
Infantile neuronal ceroid lipofuscinosis
Disease
263516
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263516
Progressive myoclonic epilepsy type 3
Clinical subtype
79264
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79264
Juvenile neuronal ceroid lipofuscinosis
Disease
168486
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168486
Congenital neuronal ceroid lipofuscinosis
Disease
168491
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168491
Late infantile neuronal ceroid lipofuscinosis
Disease
314632
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314632
ATP13A2-related juvenile neuronal ceroid lipofuscinosis
Disease
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
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
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
Autosomal recessive spastic paraplegia type 15
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
2289
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2289
Neuronal intranuclear inclusion disease
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
54247
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=54247
Posterior cortical atrophy
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
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-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
Category
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
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
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
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 27
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
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
Hereditary diffuse 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
Severe neurodegenerative syndrome with lipodystrophy
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
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
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
99818
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99818
Turcot syndrome with polyposis
Clinical subtype
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
Malformation syndrome
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
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
Hereditary diffuse 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
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 syndromes
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
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
Intellectual disability-developmental delay-contractures 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 early-onset distal myopathy
Disease
63273
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=63273
Distal myopathy with posterior leg and anterior hand involvement
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
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
Finnish upper limb-onset 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
Distal nebulin myopathy
Disease
98897
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98897
Oculopharyngodistal myopathy
Disease
482601
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=482601
Adenylosuccinate synthetase-like 1-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
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
266
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=266
Autosomal dominant limb-girdle muscular dystrophy type 1A
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
Muscular dystrophy, Selcen type
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
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
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 myopathy
Disease
565612
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=565612
Primary triglyceride deposit cardiomyovasculopathy
Disease
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
Glycogen storage disease due to LAMP-2 deficiency
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 syndromes
Etiological subtype
98914
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98914
Presynaptic congenital myasthenic syndromes
Etiological subtype
98915
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98915
Synaptic congenital myasthenic syndromes
Etiological subtype
353327
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=353327
Congenital myasthenic syndromes with glycosylation 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
Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome
Disease
476093
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=476093
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
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
79253
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79253
Mild phenylketonuria
Clinical subtype
79254
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79254
Classic phenylketonuria
Clinical subtype
79651
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79651
Mild hyperphenylalaninemia
Clinical subtype
293284
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293284
Tetrahydrobiopterin-responsive hyperphenylalaninemia/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
1947
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1947
Progressive epilepsy-intellectual disability syndrome, Finnish type
Disease
79262
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79262
Adult neuronal ceroid lipofuscinosis
Disease
79263
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79263
Infantile neuronal ceroid lipofuscinosis
Disease
263516
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263516
Progressive myoclonic epilepsy type 3
Clinical subtype
79264
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79264
Juvenile neuronal ceroid lipofuscinosis
Disease
168486
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168486
Congenital neuronal ceroid lipofuscinosis
Disease
168491
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168491
Late infantile neuronal ceroid lipofuscinosis
Disease
314632
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314632
ATP13A2-related juvenile neuronal ceroid lipofuscinosis
Disease
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 epilepsy
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
1168
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1168
Ataxia-oculomotor apraxia type 1
Disease
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
Pyridoxal phosphate-responsive seizures
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
Neurological conditions associated with 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
289877
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289877
Transient hyperammonemia of the newborn
Particular clinical situation in a disease or syndrome
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
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
Clinical subtype
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 syndromes 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-diabetes insipidus syndrome
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 type 7
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
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
65250
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65250
Perineural cyst
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 hemorrhage with amyloidosis
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 tendancy
Clinical group
36383
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=36383
COL4A1-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
Retinal arterial 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 tendancy
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
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
36382
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=36382
Familial cervical artery dissection
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 aneurysmal 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
Cerebral 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
79093
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79093
Foix-Alajouanine syndrome
Malformation syndrome
97339
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97339
Dural sinus malformation
Morphological anomaly
141189
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141189
Cerebrofacial arteriovenous metameric syndrome
Clinical group
53719
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53719
Wyburn-Mason syndrome
Malformation syndrome
141194
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141194
Cerebrofacial arteriovenous metameric syndrome type 1
Malformation syndrome
141199
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141199
Cerebrofacial arteriovenous metameric syndrome type 3
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
Etiological subtype
99228
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99228
Mosaic monosomy X
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
Intellectual disability, Birk-Barel type
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
Generalized epilepsy with febrile seizures-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
Pyridoxal phosphate-responsive seizures
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
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
101039
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101039
Female restricted epilepsy with intellectual disability
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
Glycogen storage disease due to LAMP-2 deficiency
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-diabetes insipidus syndrome
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
263508
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263508
COG1-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 type 7
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 inflammatory skin and bowel disease
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
Hereditary 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
Clinical subtype
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
Autosomal recessive spastic paraplegia type 15
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
Malformation syndrome
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
Neurological conditions associated with 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
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
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
656273
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=656273
Hypotonia-hypoventilation-intellectual disability-dysautonomia-epilepsy-eye abnormalities syndrome
Clinical syndrome
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
1934
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1934
Early infantile 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 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
Myoclonic-astatic epilepsy
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 epilepsy
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
3451
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3451
Infantile spasms syndrome
Clinical syndrome
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
2574
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2574
Moynahan syndrome
Malformation syndrome
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
228384
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228384
5q14.3 microdeletion 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
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
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
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
Etiological subtype
314588
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314588
Distal triplication 15q
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
Intellectual disability-craniofacial dysmorphism-cryptorchidism 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
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
397695
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397695
3q27.3 microdeletion syndrome
Disease
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
404440
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404440
Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
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
ADNP 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
Severe intellectual disability-progressive spastic diplegia 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
Severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome
Malformation syndrome
436151
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=436151
Intellectual disability-expressive aphasia-facial dysmorphism 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
MAGEL2-related Prader-Willi-like 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
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 microdeletion 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
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
Monosomy 22q13.3
Malformation syndrome
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
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
85283
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85283
X-linked intellectual disability, Miles-Carpenter type
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
SIN3A-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
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
2756
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2756
Orofaciodigital syndrome type 10
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
475
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=475
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
3447
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3447
Weaver 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 intellectual disability 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
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
Progressive epilepsy-intellectual disability syndrome, Finnish type
Disease
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 dwarfism
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
Hennekam-Beemer 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
2752
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2752
Orofaciodigital syndrome type 3
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
2729
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2729
Okamoto 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
3417
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3417
Van den Bosch syndrome
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
Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly 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
1240
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1240
Metaphyseal acroscyphodysplasia
Disease
1252
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1252
Blepharonasofacial malformation syndrome
Malformation syndrome
1381
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1381
Cataract-intellectual disability-anal atresia-urinary defects 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
Polyvalvular heart disease syndrome
Malformation syndrome
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
Alpha-thalassemia-X-linked 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
Autosomal dominant 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
857
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=857
Townes-Brocks syndrome
Malformation syndrome
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
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
619233
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=619233
Hereditary persistence of fetal hemoglobin-intellectual disability syndrome
Disease
646278
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=646278
CDK13-related congenital heart defects-intellectual disability-facial dysmorphism 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
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 and urinary tract syndrome
Disease
658540
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=658540
16q22 deletion syndrome
Disease
658843
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=658843
Developmental delay-ataxia-hypotonia-facial dysmorphism syndrome
Disease
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
Congenital intrauterine infection-like syndrome
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
Intellectual disability-developmental delay-contractures 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
Malformation syndrome
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
Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability 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
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
157823
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157823
Klüver-Bucy syndrome
Clinical syndrome
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
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
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
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
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-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
Category
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
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
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
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 27
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
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
Hereditary diffuse 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
79262
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79262
Adult neuronal ceroid lipofuscinosis
Disease
79263
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79263
Infantile neuronal ceroid lipofuscinosis
Disease
263516
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263516
Progressive myoclonic epilepsy type 3
Clinical subtype
79264
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79264
Juvenile neuronal ceroid lipofuscinosis
Disease
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
1947
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1947
Progressive epilepsy-intellectual disability syndrome, Finnish type
Disease
79262
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79262
Adult neuronal ceroid lipofuscinosis
Disease
79263
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79263
Infantile neuronal ceroid lipofuscinosis
Disease
263516
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263516
Progressive myoclonic epilepsy type 3
Clinical subtype
79264
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79264
Juvenile neuronal ceroid lipofuscinosis
Disease
168486
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168486
Congenital neuronal ceroid lipofuscinosis
Disease
168491
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168491
Late infantile neuronal ceroid lipofuscinosis
Disease
314632
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314632
ATP13A2-related juvenile neuronal ceroid lipofuscinosis
Disease
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 hemorrhage with amyloidosis
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
MAGEL2-related Prader-Willi-like 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
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
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
Megalencephaly
Malformation syndrome
268920
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268920
Isolated megalencephaly
Clinical subtype
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
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
Disease
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
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
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
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
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
Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability 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
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
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
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
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
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
Disease
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
141115
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141115
Nasal ganglioglioma
Clinical subtype
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
Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome
Disease
476093
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=476093
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
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
Porphyria variegata
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
1168
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1168
Ataxia-oculomotor apraxia type 1
Disease
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
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
Disease
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
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
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
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
99941
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99941
Autosomal dominant Charcot-Marie-Tooth disease type 2G
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
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 neuralgia
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
639
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=639
Polyneuropathy associated with IgM monoclonal gammopathy with anti-MAG
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
639
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=639
Polyneuropathy associated with IgM monoclonal gammopathy with anti-MAG
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
Axonal polyneuropathy associated with IgG/IgM/IgA 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
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
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
Disease
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