Term Name: | Cornelia de Lange syndrome 6 |
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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 ) |