Term Name: Cornelia de Lange syndrome 3
Synonyms: CDLS3, Cornelia De Lange syndrome 3 with or without midline brain defects
Definition: A Cornelia de Lange syndrome that has_material_basis_in heterozygous mutation in the SMC3 gene on chromosome 10q25.2.
Ontology: Human Disease [DOID:0080507]   ( DOID:0080507 )

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