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 )

Relationships
is a type of: syndromic X-linked intellectual disability