Term Name: | Coffin-Siris syndrome 11 |
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Synonyms: | 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. |
Ontology: | Human Disease [DOID:0112372] ( DOID:0112372 ) |