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Human Disease

Christianson syndrome

Term ID
DOID:0060825
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. (3)
References
Ontology
Human Disease   ( DOID:0060825 )
Relationships
is a type of
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Genes Involved
Zebrafish Models