http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=218452 Galliera Genetic Bank 2 Biobanks 1 Registry or biobank 1 on-line 131072 Terminated IT ITALY Regional 2023-06-13 00:00:00.0 881 Turner syndrome 586 Cystic fibrosis 848 Beta-thalassemia 273 Steinert myotonic dystrophy 72 Angelman syndrome 778 Rett syndrome 100 Ataxia-telangiectasia 733 Familial adenomatous polyposis 138 CHARGE syndrome 870 Down syndrome 908 Fragile X syndrome 567 22q11.2 deletion syndrome 905 Wilson disease 904 Williams syndrome 280 Wolf-Hirschhorn syndrome 783 Rubinstein-Taybi syndrome 281 Monosomy 5p syndrome 648 Noonan syndrome 377 Gorlin syndrome 107 BOR syndrome 192 Coffin-Lowry syndrome 195 Cat-eye syndrome 52 Alagille syndrome 87 Apert syndrome 308 Progressive myoclonic epilepsy type 1 199 Cornelia de Lange syndrome 218 Darier disease 464 Incontinentia pigmenti 819 Smith-Magenis syndrome 22 Succinic semialdehyde dehydrogenase deficiency 1775 Dyskeratosis congenita 2053 Freeman-Sheldon syndrome 705 Pendred syndrome 3447 Weaver syndrome 716 Phenylketonuria 1020 Early-onset autosomal dominant Alzheimer disease 84 Fanconi anemia 191 Cockayne syndrome 666 Osteogenesis imperfecta 886 Usher syndrome 611 Inclusion body myositis 187 Citrullinemia 2929 Juvenile polyposis syndrome 627 Nance-Horan syndrome 140 Campomelic dysplasia 634 Netherton syndrome 475 Isolated Joubert syndrome 932 Achondrogenesis 1023 Congenital generalized hypertrichosis, Ambras type 109 Bannayan-Riley-Ruvalcaba syndrome 1297 Branchio-oculo-facial syndrome 1860 Thanatophoric dysplasia type 1 1986 Gollop-Wolfgang complex 380 Greig cephalopolysyndactyly syndrome 3047 Blepharophimosis-intellectual disability syndrome, SBBYS type 2909 Rothmund-Thomson syndrome 144 Lynch syndrome 2841 Hailey-Hailey disease 306 Self-limited infantile epilepsy 503 Larsen syndrome 531 Miller-Dieker syndrome 1048 Isolated anencephaly/exencephaly 211 Familial cylindromatosis 29073 Multiple myeloma 37042 Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome 52430 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia 79399 Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form 85287 X-linked intellectual disability, Siderius type 86814 Familial adult myoclonic epilepsy 90658 Charcot-Marie-Tooth disease type 1E 93256 Fragile X-associated tremor/ataxia syndrome 96253 Cushing disease 98791 Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16 98895 Becker muscular dystrophy 98896 Duchenne muscular dystrophy 141132 Oculo-auriculo-vertebral spectrum