| Term Name: | Cornelia de Lange syndrome 6 |
|---|---|
| Synonyms: | |
| Definition: | A Cornelia de Lange syndrome characterized by malformations affecting multiple systems that has_material_basis_in heterozygous mutation in the BRD4 gene on chromosome 19p13. |
| Ontology: | Human Disease [DOID:0060970] ( DOID:0060970 ) |