About   Help   FAQ
Disease Ontology Browser
pontocerebellar hypoplasia type 11 (DOID:0112324)
Alliance: disease page
Synonyms: PCH11
Alt IDs: OMIM:617695, ORDO:611247
Definition: A pontocerebellar hypoplasia characterized by severely delayed psychomotor development with intellectual disability and poor speech, microcephaly, dysmorphic features, and pontocerebellar hypoplasia on brain imaging that has_material_basis_in homozygous or compound heterozygous mutation in the TBC1D23 gene on chromosome 3q12.1-q12.2.

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