ICD-10: E71.54

Mowat-Wilson syndrome Pitt-Hopkins syndrome Schimke immuno-osseous dysplasia Warsaw breakage syndrome Barber-Say syndrome Kufor-Rakeb syndrome Char syndrome 3MC syndrome 1 XFE progeroid syndrome Nance-Horan syndrome ethylmalonic encephalopathy chondrodysplasia-pseudohermaphroditism syndrome lethal congenital contracture syndrome 3 Muenke Syndrome syndromic X-linked intellectual disability 17 Prieto syndrome syndromic X-linked intellectual disability Hedera type Wilson-Turner syndrome Miles-Carpenter syndrome Christianson syndrome Griscelli syndrome type 1 Norrie disease Potocki-Lupski syndrome cerebral creatine deficiency syndrome 1 Kahrizi syndrome Stargardt disease Caroli disease Koolen de Vries syndrome infantile cerebellar-retinal degeneration spastic ataxia 4 spastic ataxia 5 spinocerebellar ataxia type 13 spinocerebellar ataxia type 25 spinocerebellar ataxia type 26 spinocerebellar ataxia type 27 Pearson syndrome delta chain disease Kennedy's disease Cogan-Reese syndrome Van Maldergem syndrome Smith-McCort dysplasia sclerosteosis rippling muscle disease 2 pontocerebellar hypoplasia pontocerebellar hypoplasia type 1A pontocerebellar hypoplasia type 1B pontocerebellar hypoplasia type 2A pontocerebellar hypoplasia type 2C Kartagener syndrome monogenic disease obsolete genetic disorder mulibrey nanism Danon disease Frasier syndrome familial partial lipodystrophy pachyonychia congenita Farber lipogranulomatosis Alstrom syndrome Netherton syndrome obsolete acroosteolysis Gamstorp-Wohlfart syndrome Charcot-Marie-Tooth disease type 4 Charcot-Marie-Tooth disease type X obsolete Majewski syndrome obsolete Verma-Naumoff syndrome obsolete infantile onset spinocerebellar ataxia Ullrich congenital muscular dystrophy congenital disorder of glycosylation type II glycogen storage disease XV ABCD syndrome triple-A syndrome Allan-Herndon-Dudley syndrome atransferrinemia Bamforth-Lazarus syndrome Bietti crystalline corneoretinal dystrophy Birk-Barel syndrome Bjornstad syndrome Borjeson-Forssman-Lehmann syndrome Bothnia retinal dystrophy Bowen-Conradi syndrome Brown-Vialetto-Van Laere syndrome Dent disease childhood electroclinical syndrome aceruloplasminemia ornithine translocase deficiency tyrosinemia type II Chanarin-Dorfman syndrome Joubert syndrome with orofaciodigital defect orofaciodigital syndrome VII orofaciodigital syndrome XI chondrodysplasia Blomstrand type chromosome 4q21 deletion syndrome Cole-Carpenter syndrome Schnyder corneal dystrophy Desbuquois dysplasia fibrochondrogenesis Goldberg-Shprintzen syndrome EAST syndrome Qazi Markouizos syndrome obsolete CLN3 disease X-linked myopathy with excessive autophagy choreaacanthocytosis rapadilino syndrome Meckel syndrome Ogden syndrome iridogoniodysgenesis syndrome peroxisomal acyl-CoA oxidase deficiency cerebral creatine deficiency syndrome guanidinoacetate methyltransferase deficiency pontocerebellar hypoplasia type 2E pontocerebellar hypoplasia type 5 pontocerebellar hypoplasia type 6 pontocerebellar hypoplasia type 10 Ohdo syndrome dyschromatosis universalis hereditaria autosomal recessive intellectual developmental disorder syndromic X-linked intellectual disability Rapp-Hodgkin syndrome Stormorken syndrome Vici syndrome Galloway-Mowat syndrome 1 orofaciodigital syndrome III orofaciodigital syndrome IV