Term Name: | syndromic X-linked intellectual disability Najm type |
---|---|
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. |
Ontology: | Human Disease [DOID:0060807] ( DOID:0060807 ) |