Term Name: | Christianson syndrome |
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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 |
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. |
Ontology: | Human Disease [DOID:0060825] ( DOID:0060825 ) |