ICD-10: E72.03

Miles-Carpenter syndrome syndromic X-linked intellectual disability 34 syndromic X-linked intellectual disability Abidi type syndromic X-linked intellectual disability Chudley-Schwartz type syndromic X-linked intellectual disability 14 Christianson syndrome X-linked intellectual disability-psychosis-macroorchidism syndrome X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome obsolete Brooks-Wisniewski-Brown syndrome Norrie disease osteoporosis-pseudoglioma syndrome septooptic dysplasia oculocerebrorenal syndrome monogenic disease obsolete genetic disorder obsolete peripheral dysostosis lacrimoauriculodentodigital syndrome 1 hypophosphatemia complement factor I deficiency periventricular nodular heterotopia Gamstorp-Wohlfart syndrome obsolete SC phocomelia syndrome posterior polar cataract obsolete Saldino-Noonan syndrome obsolete Majewski syndrome X-linked sideroblastic anemia with ataxia obsolete infantile onset spinocerebellar ataxia Walker-Warburg syndrome spondylocostal dysostosis congenital disorder of glycosylation type I congenital disorder of glycosylation type II 2-hydroxyglutaric aciduria L-2-hydroxyglutaric aciduria D-2-hydroxyglutaric aciduria cranioectodermal dysplasia ABCD syndrome acheiropody acrocapitofemoral dysplasia Allan-Herndon-Dudley syndrome anauxetic dysplasia 1 arterial calcification of infancy Baller-Gerold syndrome Bamforth-Lazarus syndrome bestrophinopathy Bjornstad syndrome Borjeson-Forssman-Lehmann syndrome Athabaskan brainstem dysgenesis syndrome brachyolmia Brody myopathy funisitis electroclinical syndrome neonatal period electroclinical syndrome infancy electroclinical syndrome childhood electroclinical syndrome variable age at onset electroclinical syndrome AGAT deficiency COX deficiency, infantile mitochondrial myopathy cerebral folate receptor alpha deficiency ornithine translocase deficiency serine deficiency PHGDH deficiency PSAT deficiency PSPH deficiency glycogen metabolism disorder X-linked monogenic disease autosomal dominant disease autosomal recessive disease Y-linked monogenic disease autosomal genetic disease Qazi Markouizos syndrome ataxia with oculomotor apraxia type 1 deafness-dystonia-optic neuronopathy syndrome X-linked myopathy with excessive autophagy adenylosuccinase lyase deficiency ARC syndrome midface dysplasia mitochondrial complex V (ATP synthase) deficiency nuclear type 1 spastic ataxia 1 rapadilino syndrome schneckenbecken dysplasia non-syndromic X-linked intellectual disability obsolete Opitz-GBBB syndrome Ogden syndrome iridogoniodysgenesis syndrome achalasia microcephaly syndrome peroxisomal acyl-CoA oxidase deficiency cerebral creatine deficiency syndrome guanidinoacetate methyltransferase deficiency cerebral creatine deficiency syndrome 1 Kahrizi syndrome temtamy preaxial brachydactyly syndrome urofacial syndrome familial encephalopathy with neuroserpin inclusion bodies pyrimidine metabolic disorder orotic aciduria Perrault syndrome infantile cerebellar-retinal degeneration triosephosphate isomerase deficiency IMAGe syndrome syndromic intellectual disability non-syndromic intellectual disability spastic ataxia 2 spastic ataxia 4 spastic ataxia 5 autosomal recessive cerebellar ataxia spastic ataxia X-linked hereditary ataxia hypomyelinating leukoencephalopathy cerebellar ataxia, mental retardation and dysequlibrium syndrome nonprogressive cerebellar ataxia with mental retardation janus kinase-3 deficiency recombinase activating gene 1 deficiency recombinase activating gene 2 deficiency coronin-1A deficiency lambda 5 deficiency obsolete neurological disorder Pearson syndrome akinetopsia organic acidemia GABA aminotransferase deficiency homocarnosinosis acrofrontofacionasal dysostosis Baraitser-Winter syndrome Warburg micro syndrome Van Maldergem syndrome MASA syndrome Smith-McCort dysplasia renal-hepatic-pancreatic dysplasia pontocerebellar hypoplasia pontocerebellar hypoplasia type 1B pontocerebellar hypoplasia type 2A pontocerebellar hypoplasia type 2B pontocerebellar hypoplasia type 2C pontocerebellar hypoplasia type 2E pontocerebellar hypoplasia type 3 pontocerebellar hypoplasia type 4 pontocerebellar hypoplasia type 6 pontocerebellar hypoplasia type 10 combined oxidative phosphorylation deficiency omodysplasia Ohdo syndrome Ohdo syndrome, SBBYS variant oculodentodigital dysplasia autosomal dominant intellectual developmental disorder autosomal recessive intellectual developmental disorder syndromic X-linked intellectual disability mitochondrial complex V (ATP synthase) deficiency nuclear type 2 mitochondrial complex V (ATP synthase) deficiency nuclear type 3 mitochondrial complex V (ATP synthase) deficiency nuclear type 4 ciliopathy acrorenal syndrome hypoparathyroidism-retardation-dysmorphism syndrome microcephaly with or without chorioretinopathy, lymphedema, or mental retardation adenine phosphoribosyltransferase deficiency Vici syndrome glycerol kinase deficiency orofaciodigital syndrome III orofaciodigital syndrome IV orofaciodigital syndrome V orofaciodigital syndrome VII orofaciodigital syndrome VIII orofaciodigital syndrome XI orofaciodigital syndrome IX chromosomal deletion syndrome chromosome 14q11-q22 deletion syndrome chromosome 15q25 deletion syndrome chromosome 16p11.2 deletion syndrome, 220-kb chromosome 16p12.1 deletion syndrome chromosome 16q22 deletion syndrome chromosome 17p13.1 deletion syndrome chromosome 18p deletion syndrome chromosome 1p36 deletion syndrome chromosome 2p12-p11.2 deletion syndrome chromosome 2q31.2 deletion syndrome chromosome 3q13.31 deletion syndrome chromosome 3q29 microdeletion syndrome chromosome 5q12 deletion syndrome chromosome 6q11-q14 deletion syndrome chromosome 6q24-q25 deletion syndrome chromosomal duplication syndrome chromosome 16p13.3 duplication syndrome epithelial-stromal TGFBI dystrophy stromal dystrophy Desbuquois dysplasia MEDNIK syndrome EAST syndrome Schimke immuno-osseous dysplasia Warsaw breakage syndrome mitochondrial complex I deficiency Barber-Say syndrome ablepharon macrostomia syndrome Holzgreve-Wagner-Rehder Syndrome 3MC syndrome 1 3MC syndrome 2 3MC syndrome 3 Yunis-Varon syndrome Nance-Horan syndrome obsolete hereditary motor and sensory neuropathy with agenesis of the corpus callosum alpha-methylacyl-CoA racemase deficiency obsolete anterior segment mesenchymal dysgenesis ethylmalonic encephalopathy chondrodysplasia-pseudohermaphroditism syndrome fetal encasement syndrome dicarboxylic aminoaciduria congenital diarrhea ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 1 hypomyelinating leukodystrophy syndromic X-linked intellectual disability Lubs type syndromic X-linked intellectual disability 5 syndromic X-linked intellectual disability 17 syndromic X-linked intellectual disability Hedera type syndromic X-linked intellectual disability 7 syndromic X-linked intellectual disability Siderius type