Term Name: Coffin-Siris syndrome 3
Synonyms: autosomal dominant mental retardation 15, CSS3, MRD15
Definition: A Coffin-Siris syndrome that has_material_basis_in an autosomal dominant mutation of the SMARCB1 gene on chromosome 22q11.23.
Ontology: Human Disease [DOID:0070045]   ( DOID:0070045 )

Relationships
is a type of: Coffin-Siris syndrome