Term Name: Coffin-Siris syndrome 1
Synonyms: autosomal dominant mental retardation 12, CSS1, fifth digit syndrome, MRD12
Definition: A Coffin-Siris syndrome that has_material_basis_in an autosomal dominant mutation of the ARID1B gene on chromosome 6q25.3.
Ontology: Human Disease [DOID:0070042]   ( DOID:0070042 )

Relationships
is a type of: Coffin-Siris syndrome