|
DOID:0060825 - Christianson syndrome
Disease Ontology Definition:A syndromic X-linked intellectual disability characterized by severe developmental delay, intellectual disability, microcephaly, impaired speech, ataxia, hypotonia and early-onset seizures that has_material_basis_in mutation in the SLC9A6 gene on chromosome Xq26.
Synonyms: 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
:
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