ICD-10: E71.111

Hirata disease obsolete carbohydrate metabolism disease monogenic disease obsolete complex genetic disease obsolete genetic disorder obsolete peripheral dysostosis Danon disease Frasier syndrome Usher syndrome Farber lipogranulomatosis Donohue syndrome Alstrom syndrome Netherton syndrome Liddle syndrome Gamstorp-Wohlfart syndrome obsolete Majewski syndrome proteasome-associated autoinflammatory syndrome 1 congenital disorder of glycosylation type II cranioectodermal dysplasia glycogen storage disease XV ABCD syndrome triple-A syndrome Aland Island eye disease Finnish type amyloidosis anauxetic dysplasia 1 Baller-Gerold syndrome Bamforth-Lazarus syndrome Birk-Barel syndrome Boomerang dysplasia Borjeson-Forssman-Lehmann syndrome Bowen-Conradi syndrome Brown-Vialetto-Van Laere syndrome Dent disease electroclinical syndrome infancy electroclinical syndrome childhood electroclinical syndrome variable age at onset electroclinical syndrome AGAT deficiency methylmalonic aciduria and homocystinuria type cblF vitamin metabolic disorder PHGDH deficiency PSAT deficiency PSPH deficiency tyrosinemia type II tyrosinemia type III congenital intrinsic factor deficiency autosomal dominant disease Y-linked monogenic disease autosomal genetic disease Qazi Markouizos syndrome cerebellar ataxia ataxia with oculomotor apraxia type 1 obsolete CLN3 disease ARC syndrome spastic ataxia 1 rapadilino syndrome non-syndromic X-linked intellectual disability Meckel syndrome obsolete Opitz-GBBB syndrome Ogden syndrome achalasia microcephaly syndrome peroxisomal acyl-CoA oxidase deficiency cerebral creatine deficiency syndrome cerebral creatine deficiency syndrome 1 Kahrizi syndrome temtamy preaxial brachydactyly syndrome urofacial syndrome orotic aciduria Perrault syndrome Koolen de Vries syndrome IMAGe syndrome Townes-Brocks syndrome non-syndromic intellectual disability spastic ataxia 2 spastic ataxia 4 spastic ataxia 7 spinocerebellar ataxia type 14 spinocerebellar ataxia type 15 obsolete spinocerebellar ataxia type 16 spinocerebellar ataxia type 18 spinocerebellar ataxia type 19/22 spinocerebellar ataxia type 21 spinocerebellar ataxia type 23 spinocerebellar ataxia type 28 spinocerebellar ataxia type 29 spinocerebellar ataxia type 31 spinocerebellar ataxia type 35 spinocerebellar ataxia type 37 spinocerebellar ataxia type 40 hypomyelinating leukoencephalopathy episodic ataxia type 4 episodic ataxia type 7 episodic ataxia type 8 cerebellar ataxia, mental retardation and dysequlibrium syndrome autosomal recessive spinocerebellar ataxia 10 janus kinase-3 deficiency recombinase activating gene 1 deficiency recombinase activating gene 2 deficiency reticular dysgenesis lambda 5 deficiency Pearson syndrome akinetopsia organic acidemia Kennedy's disease GABA aminotransferase deficiency succinic semialdehyde dehydrogenase deficiency gamma-amino butyric acid metabolism disorder Cogan-Reese syndrome Baraitser-Winter syndrome Warburg micro syndrome Van Maldergem syndrome MASA syndrome Smith-McCort dysplasia rippling muscle disease 2 renal-hepatic-pancreatic dysplasia pontocerebellar hypoplasia type 1B pontocerebellar hypoplasia type 2A pontocerebellar hypoplasia type 2B pontocerebellar hypoplasia type 3 pontocerebellar hypoplasia type 6 pontocerebellar hypoplasia type 10 omodysplasia Ohdo syndrome Ohdo syndrome, SBBYS variant Meier-Gorlin syndrome autosomal recessive intellectual developmental disorder Rapp-Hodgkin syndrome mitochondrial complex V (ATP synthase) deficiency nuclear type 3 autosomal dominant sideroblastic anemia 4 3-methylglutaconic aciduria CEDNIK syndrome ciliopathy acrorenal syndrome adenine phosphoribosyltransferase deficiency mitochondrial complex III deficiency nuclear type 2 Stormorken syndrome Vici syndrome punctate palmoplantar keratoderma type III Galloway-Mowat syndrome 1 Hennekam syndrome orofaciodigital syndrome III Joubert syndrome with orofaciodigital defect orofaciodigital syndrome VII orofaciodigital syndrome XI orofaciodigital syndrome IX chromosomal deletion syndrome chromosome 16p12.1 deletion syndrome chromosome 18p deletion syndrome chromosome 5q12 deletion syndrome chromosome 19p13.13 deletion syndrome chromosome 17q21.31 duplication syndrome Cole-Carpenter syndrome lysinuric protein intolerance stromal dystrophy Desbuquois dysplasia salt and pepper syndrome MEDNIK syndrome EAST syndrome Schimke immuno-osseous dysplasia Warsaw breakage syndrome mitochondrial complex I deficiency Barber-Say syndrome Kufor-Rakeb syndrome ataxia with oculomotor apraxia type 3 lethal congenital contracture syndrome 2 Char syndrome Holzgreve-Wagner-Rehder Syndrome 3MC syndrome 1 3MC syndrome 2 3MC syndrome 3 Yunis-Varon syndrome XFE progeroid syndrome WHIM syndrome 1 Nance-Horan syndrome alpha-methylacyl-CoA racemase deficiency ethylmalonic encephalopathy Muenke Syndrome congenital diarrhea EEC syndrome hypomyelinating leukodystrophy 12 syndromic X-linked intellectual disability Lubs type syndromic X-linked intellectual disability 5 MEHMO syndrome Prieto syndrome syndromic X-linked intellectual disability Hedera type syndromic X-linked intellectual disability 7 syndromic X-linked intellectual disability Siderius type Wilson-Turner syndrome Miles-Carpenter syndrome syndromic X-linked intellectual disability 34 syndromic X-linked intellectual disability 14 Christianson syndrome Griscelli syndrome type 1 Griscelli syndrome type 2 Griscelli syndrome type 3 Pierson syndrome Potocki-Lupski syndrome 3-methylglutaconic aciduria type 8 3-methylglutaconic aciduria type 9 3-methylglutaconic aciduria type 5 3-methylglutaconic aciduria type 1 3-methylglutaconic aciduria type 3 3-methylglutaconic aciduria type 4