Term Name: | Coffin-Siris syndrome 8 |
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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 ) |