About   Help   FAQ
Disease Ontology Browser
Guillouet-Gordon syndrome (DOID:0070794)
Alliance: disease page
Synonyms: GGNS
Alt IDs: OMIM:621220, UMLS_CUI:C6012729
Definition: A syndrome characterized by intellectual disability, speech delay, and/or motor delay of variable severity associated with variable combinations of craniofacial defects, anomalies of the extremities, and heart defects that has_material_basis_in homozygous or compound heterozygous mutation in the MED16 gene on chromosome 19p13.

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
07/14/2026
MGI 6.24 		The Jackson Laboratory