Summary Literature (0)

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: MRXSCH, X-linked Angelman-like syndrome, X-linked intellectual disability, South African type, X-linked intellectual disability-craniofacial dysmorphism-epilepsy-ophthalmoplegia-cerebellar atrophy syndrome, mental retardation, X-linked syndromic, Christianson type, mental retardation, microcephaly, epilepsy, and ataxia syndrome,

Echinobase Genes :


OMIM:

MIM:300243 - mental retardation, x-linked, syndromic, christianson type; mrxsch

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee