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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

In OMIM:
OMIM:300243 - MENTAL RETARDATION, X-LINKED, SYNDROMIC, CHRISTIANSON TYPE; MRXSCH

In Mondo Disease Ontology:
MONDO:0010278 - Christianson syndrome

Human Disease Resources: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Xenbase Genes : slc9a6

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Parent(s): syndromic X-linked intellectual disability (is_a)