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Coffin-Siris syndrome 8
Summary
- Synonym
-
- 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.
- Super Class
- Coffin-Siris syndrome
External Links
- Disease Ontology
- DOID:0112367
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q8TAQ2 | SWI/SNF complex subunit SMARCC2 |
