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DOID:0060825 - Christianson syndrome
Disease Ontology Definition:A syndromic X-linked intellectual disability characterized by microcephaly, impaired ocular movements, progressive severe global developmental delay, developmental regression, hypotonia, abnormal movements, and early-onset seizures of variable types that has_material_basis_in mutation in hemizygous mutation in the SLC9A6 gene on chromosome Xq26.
Synonyms: Christianson type of X-linked syndromic intellectual developmental disorder, mental retardation, microcephaly, epilepsy, and ataxia syndrome, mental retardation, X-linked syndromic, Christianson type, MRXSCH, X-linked Angelman-like syndrome, X-linked intellectual disability-craniofacial dysmorphism-epilepsy-ophthalmoplegia-cerebellar atrophy syndrome, X-linked intellectual disability, South African type
Xenbase Genes
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slc9a6
| MONDO:0010278 - Christianson syndrome |
| MIM:300243 - INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, CHRISTIANSON TYPE; MRXSCH |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee