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Coffin-Siris syndrome 4
Summary
- Synonym
-
- CSS4
- MRD16
- autosomal dominant mental retardation 16
- Definition
- A Coffin-Siris syndrome that has_material_basis_in an autosomal dominant mutation of the SMARCA4 gene on chromosome 19p13.2.
- Super Class
- Coffin-Siris syndrome
External Links
- Disease Ontology
- DOID:0070046
- Mondo Disease Ontology
- OMIM
Related Genes
