About   Help   FAQ
Disease Ontology Browser
Billuart-type X-linked syndromic intellectual developmental disorder (DOID:0080311)
Alliance: disease page
Synonyms: X-linked mental retardation with cerebellar hypoplasia and distinctive facial appearance
Alt IDs: OMIM:300486
Definition: A syndromic X-linked intellectual disability characterized by moderately to severely impaired intellectual development, cerebellar hypoplasia, and seizures that has_material_basis_in mutation in the oligophrenin-1 gene on chromosome Xq12.

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
03/25/2025
MGI 6.24 		The Jackson Laboratory