Coffin-Siris syndrome 8 (DOID:0112367)
Alliance: disease page
Synonyms: CSS8
Alt IDs: OMIM:618362
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.