ICD-10: E71.541

chromosome 3q13.31 deletion syndrome chromosome 4q21 deletion syndrome chromosome 5q12 deletion syndrome lysinuric protein intolerance Desbuquois dysplasia MEDNIK syndrome EAST syndrome Warsaw breakage syndrome Barber-Say syndrome lethal congenital contracture syndrome 2 Char syndrome Ritscher-Schinzel syndrome 2 3MC syndrome 3 ethylmalonic encephalopathy lethal congenital contracture syndrome 4 autosomal recessive Robinow syndrome congenital diarrhea adult-onset autosomal dominant demyelinating leukodystrophy Prieto syndrome syndromic X-linked intellectual disability 7 syndromic X-linked intellectual disability Siderius type Wilson-Turner syndrome Miles-Carpenter syndrome syndromic X-linked intellectual disability Abidi type X-linked intellectual disability-psychosis-macroorchidism syndrome obsolete Brooks-Wisniewski-Brown syndrome Griscelli syndrome type 1 obsolete complex genetic disease obsolete genetic disorder obsolete peripheral dysostosis bradyopsia hypophosphatemia Farber lipogranulomatosis Donohue syndrome Carney complex Netherton syndrome posterior polar cataract visceral heterotaxy obsolete Saldino-Noonan syndrome proteasome-associated autoinflammatory syndrome 1 obsolete infantile onset spinocerebellar ataxia D-2-hydroxyglutaric aciduria glycogen storage disease XV congenital generalized lipodystrophy ABCD syndrome ADULT syndrome triple-A syndrome Allan-Herndon-Dudley syndrome anauxetic dysplasia 1 arterial calcification of infancy atransferrinemia Baller-Gerold syndrome Dent disease electroclinical syndrome neonatal period electroclinical syndrome infancy electroclinical syndrome aceruloplasminemia COX deficiency, infantile mitochondrial myopathy vitamin metabolic disorder cerebral folate receptor alpha deficiency serine deficiency PSAT deficiency PSPH deficiency congenital intrinsic factor deficiency X-linked monogenic disease autosomal recessive disease Y-linked monogenic disease autosomal genetic disease Qazi Markouizos syndrome cerebellar ataxia ARC syndrome midface dysplasia mitochondrial complex V (ATP synthase) deficiency nuclear type 1 rapadilino syndrome non-syndromic X-linked intellectual disability obsolete Opitz-GBBB syndrome Ogden syndrome cone dystrophy peroxisomal acyl-CoA oxidase deficiency cerebral creatine deficiency syndrome Kahrizi syndrome urofacial syndrome Perrault syndrome obsolete Jensen syndrome pancreatic agenesis triosephosphate isomerase deficiency spastic ataxia 5 autosomal dominant hypophosphatemic rickets spinocerebellar ataxia type 8 spinocerebellar ataxia type 17 spinocerebellar ataxia type 21 spinocerebellar ataxia type 23 autosomal recessive spinocerebellar ataxia 10 recombinase activating gene 2 deficiency CD40 ligand deficiency immunoglobulin beta deficiency specific developmental disorder obsolete neurological disorder delta chain disease acquired metabolic disease gamma-amino butyric acid metabolism disorder homocarnosinosis Cogan-Reese syndrome acrofrontofacionasal dysostosis Baraitser-Winter syndrome Van Maldergem syndrome MASA syndrome sclerosteosis pontocerebellar hypoplasia type 2A pontocerebellar hypoplasia type 3 autosomal recessive intellectual developmental disorder syndromic X-linked intellectual disability mitochondrial complex V (ATP synthase) deficiency nuclear type 3 mitochondrial complex V (ATP synthase) deficiency nuclear type 4 CEDNIK syndrome acrorenal syndrome microcephaly with or without chorioretinopathy, lymphedema, or mental retardation Stormorken syndrome glycerol kinase deficiency Galloway-Mowat syndrome 1 orofaciodigital syndrome IV orofaciodigital syndrome XI chromosomal deletion syndrome chromosome 10q23 deletion syndrome chromosome 15q25 deletion syndrome chromosome 19q13.11 deletion syndrome chromosome 2p12-p11.2 deletion syndrome