Christianson syndrome Disease Ontology Browser

Disease Ontology Browser

Christianson syndrome (DOID:0060825)
Alliance: disease page
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, South African type; X-linked intellectual disability-craniofacial dysmorphism-epilepsy-ophthalmoplegia-cerebellar atrophy syndrome
Alt IDs: OMIM:300243, MESH:C537450, ORDO:85278, UMLS_CUI:C1846130
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.

Disease References using Mouse Models (3)

Allelic Composition	Genetic Background	Reference	Phenotypes
Slc9a6tm1Dgen/Slc9a6tm1Dgen	B6.129P2-Slc9a6^tm1Dgen/J	J:241124	View
Slc9a6tm1Dgen/Slc9a6+	B6.129P2-Slc9a6^tm1Dgen/J	J:229166	View
Slc9a6tm1Dgen/Y	B6.129P2-Slc9a6^tm1Dgen/J	J:241124, J:229166, J:262453	View

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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