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Metadata
ID	DOID:0112367
Name	Coffin-Siris syndrome 8
Definition	A Coffin-Siris syndrome characterized by variable degrees of impaired intellectual development including speech impairment, hypotonia, feeding difficulties, and behavioral abnormalities and variable occurence of other dysmophic features that has_material_basis_in heterozygous mutation in the SMARCC2 gene on chromosome 12q13. https://pubmed.ncbi.nlm.nih.gov/30580808/
Xrefs	MIM:618362
Synonyms	CSS8 [EXACT]
Parent Relationships	is_a Coffin-Siris syndrome