Term Name: Coffin-Siris syndrome 8
Synonyms: CSS8
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.
Ontology: Human Disease [DOID:0112367]   ( DOID:0112367 )

Relationships
is a type of: Coffin-Siris syndrome