ICD-10: E74.820

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 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 Griscelli syndrome type 1 Griscelli syndrome type 2 Griscelli syndrome type 3 hereditary neuropathy with liability to pressure palsies Norrie disease osteoporosis-pseudoglioma syndrome Pierson syndrome autosomal recessive pseudohypoaldosteronism type 1 autosomal dominant pseudohypoaldosteronism type 1 patterned macular dystrophy 2 Hirata disease autoimmune polyendocrine syndrome type 2 obsolete genetic disorder lacrimoauriculodentodigital syndrome 1 Andersen-Tawil syndrome mulibrey nanism Danon disease Frasier syndrome Usher syndrome familial partial lipodystrophy pachyonychia congenita Gitelman syndrome hyperphosphatemia Farber lipogranulomatosis erythrokeratodermia variabilis Donohue syndrome Carney complex Alstrom syndrome Netherton syndrome Liddle syndrome Gamstorp-Wohlfart syndrome nonphotosensitive trichothiodystrophy 4 Charcot-Marie-Tooth disease type 2 Charcot-Marie-Tooth disease type 3 Charcot-Marie-Tooth disease type 4 Charcot-Marie-Tooth disease type X hypermethioninemia visceral heterotaxy obsolete Majewski syndrome X-linked sideroblastic anemia with ataxia Ullrich congenital muscular dystrophy Fukuyama congenital muscular dystrophy West syndrome nonsyndromic deafness spondylocostal dysostosis congenital disorder of glycosylation type I 2-hydroxyglutaric aciduria D-2-hydroxyglutaric aciduria cranioectodermal dysplasia glycogen storage disease XV brachydactyly congenital generalized lipodystrophy glycogen storage disease IX ABCD syndrome triple-A syndrome acrodermatitis enteropathica Allan-Herndon-Dudley syndrome anauxetic dysplasia 1 distal arthrogryposis Bamforth-Lazarus syndrome Bart-Pumphrey syndrome biotin-responsive basal ganglia disease bestrophinopathy Bethlem myopathy Birk-Barel syndrome Bjornstad syndrome Boomerang dysplasia Borjeson-Forssman-Lehmann syndrome Bowen-Conradi syndrome brachydactyly-syndactyly syndrome brachyolmia branchiooculofacial syndrome Brody myopathy Brown-Vialetto-Van Laere syndrome neonatal period electroclinical syndrome infancy electroclinical syndrome childhood electroclinical syndrome variable age at onset electroclinical syndrome obsolete nonsyndromic epilepsy early onset absence epilepsy AGAT deficiency COX deficiency, infantile mitochondrial myopathy vitamin metabolic disorder serine deficiency PHGDH deficiency PSAT deficiency PSPH deficiency tyrosinemia type II tyrosinemia type III Chanarin-Dorfman syndrome congenital intrinsic factor deficiency X-linked monogenic disease autosomal dominant disease autosomal recessive disease Y-linked monogenic disease autosomal genetic disease Qazi Markouizos syndrome cerebellar ataxia ataxia with oculomotor apraxia type 1 deafness-dystonia-optic neuronopathy syndrome X-linked myopathy with excessive autophagy adenylosuccinase lyase deficiency ARC syndrome neuroacanthocytosis choreaacanthocytosis midface dysplasia rapadilino syndrome non-syndromic X-linked intellectual disability Meckel syndrome Ogden syndrome pontocerebellar hypoplasia type 5 pontocerebellar hypoplasia type 6 pontocerebellar hypoplasia type 10 peeling skin syndrome combined oxidative phosphorylation deficiency omodysplasia Ohdo syndrome Ohdo syndrome, SBBYS variant oculodentodigital dysplasia cold-induced sweating syndrome congenital secretory chloride diarrhea 1 dyschromatosis universalis hereditaria Meier-Gorlin syndrome autosomal dominant intellectual developmental disorder autosomal recessive intellectual developmental disorder syndromic X-linked intellectual disability autosomal dominant sideroblastic anemia 4 CEDNIK syndrome ciliopathy acrorenal syndrome mitochondrial complex III deficiency nuclear type 2 Stormorken syndrome amyotrophic lateral sclerosis type 22 punctate palmoplantar keratoderma punctate palmoplantar keratoderma type III glycerol kinase deficiency Galloway-Mowat syndrome 1 Hennekam syndrome 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 10q23 deletion syndrome chromosome 15q25 deletion syndrome chromosome 16q22 deletion syndrome chromosome 17p13.1 deletion syndrome chromosome 2p12-p11.2 deletion syndrome chromosome 2q31.2 deletion syndrome chromosome 6q11-q14 deletion syndrome chromosomal duplication syndrome chromosome 16p13.3 duplication syndrome Cole-Carpenter syndrome lysinuric protein intolerance stromal dystrophy chromosome 5p13 duplication syndrome salt and pepper syndrome Goldberg-Shprintzen syndrome MEDNIK syndrome EAST syndrome Mowat-Wilson syndrome Perry syndrome Pitt-Hopkins syndrome Schimke immuno-osseous dysplasia mitochondrial complex I deficiency Barber-Say syndrome ablepharon macrostomia syndrome ataxia with oculomotor apraxia type 3 lethal congenital contracture syndrome 1 lethal congenital contracture syndrome 2 Char syndrome Holzgreve-Wagner-Rehder Syndrome hypertrichotic osteochondrodysplasia Cantu type Ritscher-Schinzel syndrome 1 Ritscher-Schinzel syndrome 2 3MC syndrome 1 3MC syndrome 2 3MC syndrome 3 Yunis-Varon syndrome WHIM syndrome 1 Nance-Horan syndrome ulnar-mammary syndrome ethylmalonic encephalopathy chondrodysplasia-pseudohermaphroditism syndrome dicarboxylic aminoaciduria lethal congenital contracture syndrome 3 lethal congenital contracture syndrome 4 autosomal dominant nocturnal frontal lobe epilepsy 1 autosomal dominant nocturnal frontal lobe epilepsy 2 autosomal dominant nocturnal frontal lobe epilepsy 3 autosomal dominant nocturnal frontal lobe epilepsy 4 autosomal dominant nocturnal frontal lobe epilepsy 5 Muenke Syndrome familial temporal lobe epilepsy 1 familial temporal lobe epilepsy 7 familial temporal lobe epilepsy 5 congenital diarrhea adult-onset autosomal dominant demyelinating leukodystrophy hypomyelinating leukodystrophy hypomyelinating leukodystrophy 10 hypomyelinating leukodystrophy 13 hypomyelinating leukodystrophy 12 syndromic X-linked intellectual disability Lubs type syndromic X-linked intellectual disability 5 syndromic X-linked intellectual disability 17 Prieto syndrome syndromic X-linked intellectual disability Hedera type cone dystrophy achalasia microcephaly syndrome cerebral creatine deficiency syndrome guanidinoacetate methyltransferase deficiency cerebral creatine deficiency syndrome 1 Kahrizi syndrome temtamy preaxial brachydactyly syndrome orotic aciduria CHARGE syndrome segmental dystonia hemidystonia Perrault syndrome Marshall-Smith syndrome Koolen de Vries syndrome spinocerebellar ataxia type 5 infantile cerebellar-retinal degeneration IMAGe syndrome Townes-Brocks syndrome syndromic intellectual disability non-syndromic intellectual disability spastic ataxia 2 spastic ataxia 3 spastic ataxia 4 spastic ataxia 5 spastic ataxia 7 Charlevoix-Saguenay spastic ataxia hereditary hypophosphatemic rickets with hypercalciuria autosomal dominant hypophosphatemic rickets autosomal recessive hypophosphatemic rickets autosomal recessive cerebellar ataxia spastic ataxia spinocerebellar ataxia type 4 spinocerebellar ataxia type 7 spinocerebellar ataxia type 11 spinocerebellar ataxia type 12 spinocerebellar ataxia type 13 spinocerebellar ataxia type 14 spinocerebellar ataxia type 15 obsolete spinocerebellar ataxia type 16 spinocerebellar ataxia type 17 spinocerebellar ataxia type 18 spinocerebellar ataxia type 19/22 spinocerebellar ataxia type 20 spinocerebellar ataxia type 21 spinocerebellar ataxia type 23 spinocerebellar ataxia type 25 spinocerebellar ataxia type 27 spinocerebellar ataxia type 28 spinocerebellar ataxia type 29 spinocerebellar ataxia type 31 spinocerebellar ataxia type 34 spinocerebellar ataxia type 35 spinocerebellar ataxia type 36 spinocerebellar ataxia type 37 spinocerebellar ataxia type 38 spinocerebellar ataxia type 40 episodic ataxia type 1 episodic ataxia type 2 episodic ataxia type 3 episodic ataxia type 4 episodic ataxia type 5 episodic ataxia type 7 episodic ataxia type 8 cerebellar ataxia, mental retardation and dysequlibrium syndrome nonprogressive cerebellar ataxia with mental retardation autosomal recessive spinocerebellar ataxia 10 recombinase activating gene 2 deficiency reticular dysgenesis lambda 5 deficiency specific developmental disorder popliteal pterygium syndrome familial juvenile hyperuricemic nephropathy organic acidemia Kennedy's disease benign familial infantile epilepsy homocarnosinosis amyotrophic lateral sclerosis type 13 amyotrophic lateral sclerosis type 21 Cogan-Reese syndrome Adams-Oliver syndrome Baraitser-Winter syndrome Carpenter syndrome Warburg micro syndrome Van Maldergem syndrome MASA syndrome Smith-McCort dysplasia Simpson-Golabi-Behmel syndrome type 1 scapuloperoneal myopathy rippling muscle disease 2 Dowling-Degos disease dyschromatosis symmetrica hereditaria renal-hepatic-pancreatic dysplasia pontocerebellar hypoplasia pontocerebellar hypoplasia type 1A pontocerebellar hypoplasia type 1B pontocerebellar hypoplasia type 2A pontocerebellar hypoplasia type 2B pontocerebellar hypoplasia type 2C pontocerebellar hypoplasia type 3 pontocerebellar hypoplasia type 4