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 )

Relationships
is a type of: autosomal dominant disease Cornelia de Lange syndrome