Term Name: Cornelia de Lange syndrome 2
Synonyms:
Definition: A Cornelia de Lange syndrome that has_material_basis_in a mutation in the SMC1A gene, which encodes a subunit of the cohesin complex, on chromosome Xp11.
Ontology: Human Disease [DOID:0080506]   ( DOID:0080506 )

Relationships
is a type of: Cornelia de Lange syndrome X-linked dominant disease