ICD-10: G40.42

Ritscher-Schinzel syndrome 2 3MC syndrome 1 3MC syndrome 2 3MC syndrome 3 Yunis-Varon syndrome XFE progeroid syndrome WHIM syndrome 1 Nance-Horan syndrome permanent neonatal diabetes mellitus ethylmalonic encephalopathy lethal congenital contracture syndrome 3 autosomal dominant nocturnal frontal lobe epilepsy 5 Muenke Syndrome familial chronic myelocytic leukemia-like syndrome autosomal recessive Robinow syndrome autosomal dominant Robinow syndrome 2 autosomal dominant Robinow syndrome 3 hypomyelinating leukodystrophy 10 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 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-cardiomegaly-congestive heart failure syndrome Griscelli syndrome type 1 Griscelli syndrome type 2 Griscelli syndrome type 3 Norrie disease Leri-Weill dyschondrosteosis osteoporosis-pseudoglioma syndrome Pierson syndrome Potocki-Lupski syndrome autosomal recessive pseudohypoaldosteronism type 1 autosomal dominant pseudohypoaldosteronism type 1 Barber-Say syndrome Kufor-Rakeb syndrome ataxia with oculomotor apraxia type 3 lethal congenital contracture syndrome 1 lethal congenital contracture syndrome 2 Char syndrome Ritscher-Schinzel syndrome 1 autoimmune polyendocrine syndrome type 2 monogenic disease obsolete genetic disorder lacrimoauriculodentodigital syndrome 1 nonpapillary renal cell carcinoma Andersen-Tawil syndrome mulibrey nanism Danon disease Usher syndrome pachyonychia congenita Costello syndrome Donohue syndrome Carney complex Netherton syndrome nonphotosensitive trichothiodystrophy 4 Charcot-Marie-Tooth disease type 3 Charcot-Marie-Tooth disease type X obsolete Saldino-Noonan syndrome obsolete infantile onset spinocerebellar ataxia cranioectodermal dysplasia brachydactyly primary congenital glaucoma glycogen storage disease IX ABCD syndrome acrodermatitis enteropathica Askin's tumor Allan-Herndon-Dudley syndrome anauxetic dysplasia 1 Bart-Pumphrey syndrome Birt-Hogg-Dube syndrome Bjornstad syndrome Borjeson-Forssman-Lehmann syndrome Athabaskan brainstem dysgenesis syndrome Bowen-Conradi syndrome organ system cancer Brooke-Spiegler syndrome Brown-Vialetto-Van Laere syndrome Dent disease early onset absence epilepsy early infantile epileptic encephalopathy AGAT deficiency serine deficiency PHGDH deficiency PSAT deficiency PSPH deficiency tyrosinemia type III X-linked monogenic disease Y-linked monogenic disease cerebellar ataxia spinocerebellar ataxia with axonal neuropathy 2 obsolete CLN3 disease X-linked myopathy with excessive autophagy ARC syndrome neuroacanthocytosis choreaacanthocytosis rapadilino syndrome obsolete Opitz-GBBB syndrome Ogden syndrome iridogoniodysgenesis syndrome juvenile polyposis syndrome proximal symphalangism multiple synostoses syndrome achalasia microcephaly syndrome Kahrizi syndrome temtamy preaxial brachydactyly syndrome urofacial syndrome orotic aciduria CHARGE syndrome Perrault syndrome Marshall-Smith syndrome spinocerebellar ataxia type 5 IMAGe syndrome Townes-Brocks syndrome striated muscle rhabdoid tumor spastic ataxia 2 spastic ataxia 3 spastic ataxia 4 spastic ataxia 5 spastic ataxia 7 autosomal dominant hypophosphatemic rickets autosomal recessive hypophosphatemic rickets spastic ataxia X-linked hereditary ataxia spinocerebellar ataxia type 6 spinocerebellar ataxia type 11 spinocerebellar ataxia type 14 spinocerebellar ataxia type 15 spinocerebellar ataxia type 18 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 30 spinocerebellar ataxia type 31 spinocerebellar ataxia type 34 spinocerebellar ataxia type 35 spinocerebellar ataxia type 36 spinocerebellar ataxia type 37 spinocerebellar ataxia type 40 episodic ataxia type 1 episodic ataxia type 3 episodic ataxia type 4 episodic ataxia type 5 episodic ataxia type 6 episodic ataxia type 7 episodic ataxia type 8 autosomal recessive spinocerebellar ataxia 10 janus kinase-3 deficiency CD45 deficiency CD3delta deficiency CD3gamma deficiency lambda 5 deficiency Good syndrome familial juvenile hyperuricemic nephropathy Pearson syndrome vulvar benign neoplasm akinetopsia juvenile absence epilepsy Adams-Oliver syndrome Carpenter syndrome Warburg micro syndrome Van Maldergem syndrome MASA syndrome Simpson-Golabi-Behmel syndrome type 1 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 5 pontocerebellar hypoplasia type 6 pontocerebellar hypoplasia type 10 omodysplasia Ohdo syndrome Ohdo syndrome, SBBYS variant Meier-Gorlin syndrome autosomal dominant intellectual developmental disorder autosomal recessive intellectual developmental disorder syndromic X-linked intellectual disability Rapp-Hodgkin syndrome CEDNIK syndrome hypoparathyroidism-retardation-dysmorphism syndrome Stormorken syndrome Vici syndrome punctate palmoplantar keratoderma type III 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 14q11-q22 deletion syndrome chromosome 15q11.2 deletion syndrome chromosome 15q25 deletion syndrome chromosome 16p11.2 deletion syndrome, 220-kb chromosome 16q22 deletion syndrome chromosome 17p13.1 deletion syndrome chromosome 18p deletion syndrome chromosome 19q13.11 deletion syndrome chromosome 2p12-p11.2 deletion syndrome chromosome 2q31.2 deletion syndrome chromosome 3q13.31 deletion syndrome chromosome 3q29 microdeletion syndrome chromosome 4q21 deletion syndrome chromosome 5q12 deletion syndrome chromosome 6q24-q25 deletion syndrome chromosomal duplication syndrome chromosome 16p13.3 duplication syndrome chromosome 17q12 duplication syndrome stromal dystrophy chromosome 2q31.1 duplication syndrome chromosome 3q29 microduplication syndrome gingival fibromatosis Kindler syndrome Kabuki syndrome Goldberg-Shprintzen syndrome MEDNIK syndrome EAST syndrome Mowat-Wilson syndrome Perry syndrome Pitt-Hopkins syndrome Schimke immuno-osseous dysplasia