| Synonyms: |
Christianson type of X-linked syndromic intellectual developmental disorder,
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
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| Definition: |
A syndromic X-linked intellectual disability characterized by microcephaly, impaired ocular movements, progressive severe global developmental delay, developmental regression, hypotonia, abnormal movements, and early-onset seizures of variable types that has_material_basis_in mutation in hemizygous mutation in the SLC9A6 gene on chromosome Xq26. |