About   Help   FAQ
Disease Ontology Browser
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.

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support. 		last database update
11/12/2024
MGI 6.24 		The Jackson Laboratory