ICD-10: E71.548

Desbuquois dysplasia Goldberg-Shprintzen syndrome MEDNIK syndrome Pitt-Hopkins syndrome Schimke immuno-osseous dysplasia Kufor-Rakeb syndrome lethal congenital contracture syndrome 2 Holzgreve-Wagner-Rehder Syndrome hypertrichotic osteochondrodysplasia Cantu type Ritscher-Schinzel syndrome 1 3MC syndrome 1 3MC syndrome 3 Yunis-Varon syndrome WHIM syndrome 1 Nance-Horan syndrome lethal congenital contracture syndrome 3 lethal congenital contracture syndrome 4 Muenke Syndrome autosomal recessive Robinow syndrome hypomyelinating leukodystrophy 10 hypomyelinating leukodystrophy 12 syndromic X-linked intellectual disability 7 syndromic X-linked intellectual disability Siderius type Wilson-Turner syndrome Miles-Carpenter syndrome syndromic X-linked intellectual disability 14 obsolete Brooks-Wisniewski-Brown syndrome Griscelli syndrome type 2 Norrie disease Pierson syndrome Hirata disease autoimmune polyendocrine syndrome type 1 autoimmune polyendocrine syndrome type 2 lacrimoauriculodentodigital syndrome 1 mulibrey nanism Frasier syndrome familial partial lipodystrophy Costello syndrome Donohue syndrome Alstrom syndrome Netherton syndrome obsolete acroosteolysis nonphotosensitive trichothiodystrophy 4 Charcot-Marie-Tooth disease type X obsolete Saldino-Noonan syndrome obsolete Majewski syndrome obsolete Verma-Naumoff syndrome Ullrich congenital muscular dystrophy congenital disorder of glycosylation type I glycogen storage disease XV Aland Island eye disease anauxetic dysplasia 1 obsolete anonychia congenita Baller-Gerold syndrome Bamforth-Lazarus syndrome biotin-responsive basal ganglia disease Birk-Barel syndrome blue cone monochromacy Boomerang dysplasia Borjeson-Forssman-Lehmann syndrome brachyolmia Dent disease 3-methylcrotonyl-CoA carboxylase deficiency methylmalonic aciduria and homocystinuria type cblD PSPH deficiency tyrosinemia type II glycogen metabolism disorder Chanarin-Dorfman syndrome methylmalonic aciduria and homocystinuria type cblG Qazi Markouizos syndrome obsolete CLN3 disease ARC syndrome choreaacanthocytosis rapadilino syndrome Meckel syndrome obsolete Opitz-GBBB syndrome iridogoniodysgenesis syndrome peroxisomal acyl-CoA oxidase deficiency cerebral creatine deficiency syndrome cerebral creatine deficiency syndrome 1 Kahrizi syndrome urofacial syndrome infantile cerebellar-retinal degeneration spastic ataxia 3 spastic ataxia 4 spastic ataxia 5 spastic ataxia 7 Charlevoix-Saguenay spastic ataxia spinocerebellar ataxia type 21 spinocerebellar ataxia type 25 spinocerebellar ataxia type 28 spinocerebellar ataxia type 30 spinocerebellar ataxia type 35 spinocerebellar ataxia type 37 autosomal recessive spinocerebellar ataxia 10 janus kinase-3 deficiency Pearson syndrome organic acidemia Kennedy's disease homocarnosinosis Carpenter syndrome Van Maldergem syndrome rippling muscle disease 2 dyschromatosis symmetrica hereditaria pontocerebellar hypoplasia pontocerebellar hypoplasia type 1A pontocerebellar hypoplasia type 1B pontocerebellar hypoplasia type 2A pontocerebellar hypoplasia type 2C pontocerebellar hypoplasia type 2E pontocerebellar hypoplasia type 4 pontocerebellar hypoplasia type 6 pontocerebellar hypoplasia type 10 Ohdo syndrome Ohdo syndrome, SBBYS variant oculodentodigital dysplasia Rapp-Hodgkin syndrome CEDNIK syndrome ciliopathy Native American myopathy acrorenal syndrome Stormorken syndrome Vici syndrome Hennekam syndrome orofaciodigital syndrome III orofaciodigital syndrome IV orofaciodigital syndrome V orofaciodigital syndrome VIII orofaciodigital syndrome XI chromosome 16q22 deletion syndrome