| Term Name: | Cornelia de Lange syndrome 2 |
|---|---|
| Synonyms: | |
| Definition: | A Cornelia de Lange syndrome that has_material_basis_in a mutation in the SMC1A gene, which encodes a subunit of the cohesin complex, on chromosome Xp11. |
| Ontology: | Human Disease [DOID:0080506] ( DOID:0080506 ) |