| Metadata | |
|---|---|
| ID | DOID:0080506 |
| Name | Cornelia de Lange syndrome 2 |
| 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. https://www.ncbi.nlm.nih.gov/pubmed/22106055 |
| Xrefs | |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some X-linked dominant inheritance |