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DO Term : syndromic X-linked intellectual disability Najm type [DOID:0060807] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  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.
  • synonyms:
  • MICPCH,
  • ICD10CM:Q04.3,
  • X-linked intellectual disability-microcephaly-pontocerebellar hypoplasia syndrome,
  • ORDO:163937,
  • GARD:12669,
  • 300749,
  • mental retardation and microcephaly with pontine and cerebellar hypoplasia,
  • OMIM:300749
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