Term Name: Cornelia de Lange syndrome 5
Synonyms:
Definition: A Cornelia de Lange syndrome that has_material_basis_in by mutation in the HDAC8 gene on chromosome Xq13.
Ontology: Human Disease [DOID:0080509]   ( DOID:0080509 )

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