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Human Disease

syndromic X-linked intellectual disability Najm type

Term ID
DOID:0060807
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 )
Relationships
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Genes Involved
Zebrafish Models