Cornelia de Lange syndrome 6

Term ID

DOID:0060970

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. https://pubmed.ncbi.nlm.nih.gov/16604071/

References

• MIM:620568

Ontology

Human Disease   ( DOID:0060970 )