About   Help   FAQ
Disease Ontology Browser
Gabriele-de Vries syndrome (DOID:0070802)
Alliance: disease page
Alt IDs: OMIM:617557, ICD10CM:Q87.8, NCI:C165531, ORDO:506358, UMLS_CUI:C4479652
Definition: An autosomal dominant intellectual developmental disorder characterized by delayed psychomotor development, variable cognitive impairment, often with behavioral problems, feeding problems, some movement abnormalities, and dysmorphic facial features that has_material_basis_in heterozygous mutation in the YY1 gene on chromosome 14q32.

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
09/01/2026
MGI 6.24 		The Jackson Laboratory