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.