Guillouet-Gordon syndrome

Term ID

DOID:0070794

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. https://pubmed.ncbi.nlm.nih.gov/40081376/

References

• MIM:621220
• UMLS_CUI:C6012729

Ontology

Human Disease   ( DOID:0070794 )