Term Name: Cornelia de Lange syndrome 4
Synonyms: CDLS4, Cornelia De Lange syndrome 4 with or without midline brain defects
Definition: A Cornelia de Lange syndrome that has_material_basis_in heterozygous mutation in the RAD21 gene, which encodes a component of the cohesin complex, on chromosome 8q24.
Ontology: Human Disease [DOID:0080508]   ( DOID:0080508 )

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