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Coffin-Siris syndrome 11
Summary
- Synonym
-
- CSS11
- Definition
- A Coffin-Siris syndrome characterized by global developmental delay and impaired intellectual development associated with hypotonia, feeding difficulties, and variable dysmorphic features that has_material_basis_in heterozygous mutation in the SMARCD1 gene on chromosome 12q13.12.
- Super Class
- Coffin-Siris syndrome
External Links
- Disease Ontology
- DOID:0112372
- Mondo Disease Ontology
- OMIM
Related Genes
