ICD-10: Q93.3

autosomal recessive pseudohypoaldosteronism type 1 patterned macular dystrophy 2 patterned macular dystrophy 3 Hirata disease autoimmune polyendocrine syndrome type 2 monogenic disease obsolete genetic disorder Andersen-Tawil syndrome mulibrey nanism Frasier syndrome Usher syndrome Gitelman syndrome Wolf-Hirschhorn syndrome Antley-Bixler syndrome with disordered steroidogenesis campomelic dysplasia Muir-Torre syndrome Loeys-Dietz syndrome Costello syndrome Donohue syndrome Carney complex Netherton syndrome Liddle syndrome nonphotosensitive trichothiodystrophy 4 intermediate spinal muscular atrophy obsolete SC phocomelia syndrome Charcot-Marie-Tooth disease type 2 Charcot-Marie-Tooth disease type 3 Charcot-Marie-Tooth disease type X obsolete Saldino-Noonan syndrome obsolete Majewski syndrome obsolete Verma-Naumoff syndrome Fukuyama congenital muscular dystrophy cranioectodermal dysplasia ABCD syndrome anauxetic dysplasia 1 Baller-Gerold syndrome biotin-responsive basal ganglia disease Beare-Stevenson cutis gyrata syndrome Bethlem myopathy Birk-Barel syndrome Birt-Hogg-Dube syndrome Bjornstad syndrome blue cone monochromacy Borjeson-Forssman-Lehmann syndrome Athabaskan brainstem dysgenesis syndrome Bowen-Conradi syndrome brachydactyly-syndactyly syndrome brachyolmia branchiooculofacial syndrome Brody myopathy neonatal period electroclinical syndrome childhood electroclinical syndrome cerebral folate receptor alpha deficiency PSAT deficiency tyrosinemia type III autosomal dominant disease autosomal recessive disease Y-linked monogenic disease autosomal genetic disease Qazi Markouizos syndrome marginal zone lymphoma cerebellar ataxia ataxia with oculomotor apraxia type 1 deafness-dystonia-optic neuronopathy syndrome midface dysplasia rapadilino syndrome Meckel syndrome obsolete Opitz-GBBB syndrome proximal symphalangism achalasia microcephaly syndrome glioblastoma proneural subtype Kahrizi syndrome spondyloepimetaphyseal dysplasia, Pakistani type temtamy preaxial brachydactyly syndrome urofacial syndrome Perrault syndrome Marshall-Smith syndrome pancreatic agenesis infantile cerebellar-retinal degeneration IMAGe syndrome syndromic intellectual disability spastic ataxia 3 spastic ataxia 4 spastic ataxia 7 autosomal dominant hypophosphatemic rickets autosomal recessive hypophosphatemic rickets spinocerebellar ataxia type 1 spinocerebellar ataxia type 2 spinocerebellar ataxia type 6 spinocerebellar ataxia type 4 spinocerebellar ataxia type 7 spinocerebellar ataxia type 8 spinocerebellar ataxia type 10 spinocerebellar ataxia type 11 spinocerebellar ataxia type 15 autosomal dominant cerebellar ataxia, deafness and narcolepsy spinocerebellar ataxia type 20 spinocerebellar ataxia type 21 spinocerebellar ataxia type 23 spinocerebellar ataxia type 25 spinocerebellar ataxia type 28 spinocerebellar ataxia type 31 spinocerebellar ataxia type 34 syndromic X-linked intellectual disability 5 Prieto syndrome syndromic X-linked intellectual disability 7 Wilson-Turner syndrome 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 Griscelli syndrome type 1 Griscelli syndrome type 2 Griscelli syndrome type 3 Norrie disease Leri-Weill dyschondrosteosis Potocki-Lupski syndrome spinocerebellar ataxia type 37 spinocerebellar ataxia type 38 GRID2-related spinocerebellar ataxia episodic ataxia type 2 episodic ataxia type 3 episodic ataxia type 4 episodic ataxia type 6 episodic ataxia type 7 cerebellar ataxia, mental retardation and dysequlibrium syndrome autosomal recessive spinocerebellar ataxia 10 reticular dysgenesis popliteal pterygium syndrome Pearson syndrome mu chain disease amyotrophic lateral sclerosis type 21 acrofrontofacionasal dysostosis Baraitser-Winter syndrome Carpenter syndrome Warburg micro syndrome Van Maldergem syndrome synpolydactyly Simpson-Golabi-Behmel syndrome type 1 rippling muscle disease 2 dyschromatosis symmetrica hereditaria pontocerebellar hypoplasia type 1A pontocerebellar hypoplasia type 1B pontocerebellar hypoplasia type 2C pontocerebellar hypoplasia type 2E pontocerebellar hypoplasia type 3 pontocerebellar hypoplasia type 4 pontocerebellar hypoplasia type 5 oculodentodigital dysplasia dyschromatosis universalis hereditaria autosomal dominant intellectual developmental disorder autosomal recessive intellectual developmental disorder autosomal dominant sideroblastic anemia 4 CEDNIK syndrome acromelic frontonasal dysostosis Native American myopathy acrofacial dysostosis Cincinnati type amyotrophic lateral sclerosis type 22 Vici syndrome Galloway-Mowat syndrome 1 mandibulofacial dysostosis with alopecia orofaciodigital syndrome VIII acrofacial dysostosis orofaciodigital syndrome XI acrofacial dysostosis Rodriguez type acrofacial dysostosis, Catania type acrofacial dysostosis, Patagonia type chromosomal deletion syndrome chromosome 4q21 deletion syndrome Cole-Carpenter syndrome Kindler syndrome Kabuki syndrome Goldberg-Shprintzen syndrome MEDNIK syndrome EAST syndrome Mowat-Wilson syndrome Warsaw breakage syndrome Barber-Say syndrome Kufor-Rakeb syndrome ataxia with oculomotor apraxia type 3 Char syndrome Ritscher-Schinzel syndrome Holzgreve-Wagner-Rehder Syndrome hypertrichotic osteochondrodysplasia Cantu type Ritscher-Schinzel syndrome 1 3MC syndrome 1 XFE progeroid syndrome WHIM syndrome 1 obsolete anterior segment mesenchymal dysgenesis ulnar-mammary syndrome lethal congenital contracture syndrome 3 lethal congenital contracture syndrome 4 autosomal dominant nocturnal frontal lobe epilepsy 2 autosomal dominant nocturnal frontal lobe epilepsy 4 Muenke Syndrome autosomal recessive Robinow syndrome autosomal dominant Robinow syndrome 2 autosomal dominant Robinow syndrome 1 autosomal dominant Robinow syndrome 3 EEC syndrome hypomyelinating leukodystrophy 12 syndromic X-linked intellectual disability Lubs type