| Metadata | |
|---|---|
| ID | DOID:0112372 |
| Name | Coffin-Siris syndrome 11 |
| 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. https://pubmed.ncbi.nlm.nih.gov/30879640/ |
| Xrefs | |
| Synonyms |
CSS11 [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |