Term Name:	Coffin-Siris syndrome 5
Synonyms:	CSS5
Definition:	A Coffin-Siris syndrome characterized by delayed psychomotor development, intellectual disability, coarse facial features, and hypoplasia of the distal phalanges, particularly the fifth digit that has_material_basis_in heterozygous mutation in the SMARCE1 gene on chromosome 17q21.2.
Ontology:	Human Disease [DOID:0112368]   ( DOID:0112368 )