ICD-10: E71.53

Hennekam syndrome orofaciodigital syndrome IV orofaciodigital syndrome IX chromosome 16p12.1 deletion syndrome Cole-Carpenter syndrome lysinuric protein intolerance stromal dystrophy Desbuquois dysplasia fibrochondrogenesis MEDNIK syndrome EAST syndrome Mowat-Wilson syndrome Schimke immuno-osseous dysplasia Barber-Say syndrome lethal congenital contracture syndrome 1 lethal congenital contracture syndrome 2 Ritscher-Schinzel syndrome 1 Ritscher-Schinzel syndrome 2 3MC syndrome 3 Yunis-Varon syndrome XFE progeroid syndrome Nance-Horan syndrome ethylmalonic encephalopathy dicarboxylic aminoaciduria lethal congenital contracture syndrome 3 Muenke Syndrome hypomyelinating leukodystrophy 10 syndromic X-linked intellectual disability 5 Prieto syndrome syndromic X-linked intellectual disability 7 Miles-Carpenter syndrome Christianson syndrome Griscelli syndrome type 2 Potocki-Lupski syndrome glycerol kinase deficiency Galloway-Mowat syndrome 1 Kartagener syndrome mesocestoidiasis obsolete genetic disorder obsolete peripheral dysostosis Danon disease Frasier syndrome Donohue syndrome Alstrom syndrome Netherton syndrome obsolete acroosteolysis Gamstorp-Wohlfart syndrome Charcot-Marie-Tooth disease type 3 Charcot-Marie-Tooth disease type 4 visceral heterotaxy obsolete Saldino-Noonan syndrome obsolete Majewski syndrome congenital disorder of glycosylation type I D-2-hydroxyglutaric aciduria cranioectodermal dysplasia glycogen storage disease IX triple-A syndrome acrodermatitis enteropathica Aland Island eye disease anauxetic dysplasia 1 obsolete anonychia congenita atelosteogenesis Bart-Pumphrey syndrome biotin-responsive basal ganglia disease Bietti crystalline corneoretinal dystrophy Birk-Barel syndrome Bjornstad syndrome Bowen-Conradi syndrome Brody myopathy Brown-Vialetto-Van Laere syndrome neonatal period electroclinical syndrome variable age at onset electroclinical syndrome 3-methylcrotonyl-CoA carboxylase deficiency PSPH deficiency tyrosinemia type II tyrosinemia type III glycogen metabolism disorder deafness-dystonia-optic neuronopathy syndrome choreaacanthocytosis spastic ataxia 1 rapadilino syndrome schneckenbecken dysplasia obsolete Opitz-GBBB syndrome Ogden syndrome proximal symphalangism cone dystrophy peroxisomal acyl-CoA oxidase deficiency cerebral creatine deficiency syndrome guanidinoacetate methyltransferase deficiency cerebral creatine deficiency syndrome 1 temtamy preaxial brachydactyly syndrome urofacial syndrome orotic aciduria Perrault syndrome Caroli disease infantile cerebellar-retinal degeneration Townes-Brocks syndrome spastic ataxia 2 spastic ataxia 4 spastic ataxia 5 autosomal recessive cerebellar ataxia spastic ataxia spinocerebellar ataxia type 2 spinocerebellar ataxia type 8 spinocerebellar ataxia type 13 spinocerebellar ataxia type 17 spinocerebellar ataxia type 21 spinocerebellar ataxia type 25 spinocerebellar ataxia type 30 spinocerebellar ataxia type 31 spinocerebellar ataxia type 35 GRID2-related spinocerebellar ataxia lambda 5 deficiency Kennedy's disease GABA aminotransferase deficiency succinic semialdehyde dehydrogenase deficiency Cogan-Reese syndrome Baraitser-Winter syndrome Simpson-Golabi-Behmel syndrome type 1 rippling muscle disease 2 pontocerebellar hypoplasia type 2C pontocerebellar hypoplasia type 2E pontocerebellar hypoplasia type 3 pontocerebellar hypoplasia type 5 pontocerebellar hypoplasia type 6 combined oxidative phosphorylation deficiency oculodentodigital dysplasia dyschromatosis universalis hereditaria autosomal recessive intellectual developmental disorder Rapp-Hodgkin syndrome CEDNIK syndrome Native American myopathy acrorenal syndrome Vici syndrome