Term Name: Coffin-Siris syndrome 4
Synonyms: autosomal dominant mental retardation 16, CSS4, MRD16
Definition: A Coffin-Siris syndrome that has_material_basis_in an autosomal dominant mutation of the SMARCA4 gene on chromosome 19p13.2.
Ontology: Human Disease [DOID:0070046]   ( DOID:0070046 )

Relationships
is a type of: Coffin-Siris syndrome