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 )

Relationships
is a type of: autosomal recessive disease syndrome