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Metadata
ID	DOID:0112368
Name	Coffin-Siris syndrome 5
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. https://pubmed.ncbi.nlm.nih.gov/22426308/, https://pubmed.ncbi.nlm.nih.gov/23906836/
Xrefs	MIM:616938
Synonyms	CSS5 [EXACT]
Parent Relationships	is_a Coffin-Siris syndrome
Subclass Logical Relationships	has material basis in some autosomal dominant inheritance