OBO ID: DOID:0060825
Term Name: Christianson syndrome Search Ontology:
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 )
OTHER Christianson syndrome PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
SLC9A6 Intellectual developmental disorder, X-linked syndromic, Christianson type 300243
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None