OBO ID: DOID:0060807
Term Name: syndromic X-linked intellectual disability Najm type Search Ontology:
Synonyms:
  • mental retardation and microcephaly with pontine and cerebellar hypoplasia
  • MICPCH
  • X-linked intellectual disability-microcephaly-pontocerebellar hypoplasia syndrome
Definition: A syndromic X-linked intellectual disability characterized by severe intellectual disability, microcephaly with pontine and cerebellar hypoplasia that has_material_basis_in heterozygous mutation or deletion in the CASK gene on chromosome Xp11. (2)
References:
Ontology: Human Disease   ( DOID:0060807 )
OTHER syndromic X-linked intellectual disability Najm type PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
CASK Intellectual developmental disorder and microcephaly with pontine and cerebellar hypoplasia 300749
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None