Summary Literature (0)

DOID:0060807 - syndromic X-linked intellectual disability Najm type

Disease Ontology 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.

Synonyms: mental retardation and microcephaly with pontine and cerebellar hypoplasia, MICPCH, X-linked intellectual disability-microcephaly-pontocerebellar hypoplasia syndrome

Xenbase Genes : cask

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0010417 - syndromic X-linked intellectual disability Najm type

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee