| Term Name: | Guillouet-Gordon syndrome |
|---|---|
| Synonyms: | GGNS |
| 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. |
| Ontology: | Human Disease [DOID:0070794] ( DOID:0070794 ) |