syndromic X-linked intellectual disability Najm type (DOID:0060807)
Alliance: disease page
Synonyms: mental retardation and microcephaly with pontine and cerebellar hypoplasia; MICPCH; X-linked intellectual disability-microcephaly-pontocerebellar hypoplasia syndrome
Alt IDs: OMIM:300749, ICD10CM:Q04.3, ORDO:163937
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.