ICD-10: E71.50

Vici syndrome Hennekam syndrome orofaciodigital syndrome VIII orofaciodigital syndrome XI chromosome 10q23 deletion syndrome chromosome 16q22 deletion syndrome Kindler syndrome MEDNIK syndrome Pitt-Hopkins syndrome Kufor-Rakeb syndrome ataxia with oculomotor apraxia type 3 lethal congenital contracture syndrome 1 Char syndrome hypertrichotic osteochondrodysplasia Cantu type Ritscher-Schinzel syndrome 2 Yunis-Varon syndrome ethylmalonic encephalopathy syndromic X-linked intellectual disability 17 Prieto syndrome syndromic X-linked intellectual disability Chudley-Schwartz type obsolete Brooks-Wisniewski-Brown syndrome Griscelli syndrome type 3 Hirata disease obsolete genetic disorder Danon disease Donohue syndrome obsolete Verma-Naumoff syndrome cranioectodermal dysplasia glycogen storage disease XV ABCD syndrome ADULT syndrome triple-A syndrome acrocapitofemoral dysplasia anauxetic dysplasia 1 Baller-Gerold syndrome Borjeson-Forssman-Lehmann syndrome neonatal period electroclinical syndrome childhood electroclinical syndrome methylmalonic aciduria and homocystinuria type cblF ornithine translocase deficiency PSPH deficiency tyrosinemia type II Y-linked monogenic disease Qazi Markouizos syndrome ARC syndrome rapadilino syndrome Meckel syndrome obsolete Opitz-GBBB syndrome Ogden syndrome peroxisomal acyl-CoA oxidase deficiency cerebral creatine deficiency syndrome guanidinoacetate methyltransferase deficiency cerebral creatine deficiency syndrome 1 Kahrizi syndrome Perrault syndrome spastic ataxia 2 spastic ataxia 3 spastic ataxia 5 spastic ataxia 7 spinocerebellar ataxia type 7 spinocerebellar ataxia type 17 spinocerebellar ataxia type 28 spinocerebellar ataxia type 31 Kennedy's disease Cogan-Reese syndrome Carpenter syndrome Van Maldergem syndrome Smith-McCort dysplasia pontocerebellar hypoplasia type 4 pontocerebellar hypoplasia type 6 omodysplasia Ohdo syndrome CEDNIK syndrome mitochondrial complex III deficiency nuclear type 2