Term Name:	cerebrooculofacioskeletal syndrome 2
Synonyms:
Definition:	A cerebrooculofacioskeletal syndrome that has_material_basis_in compound heterozygous mutation in the DNA repair gene XPD (ERCC2) on chromosome 19q13.
Ontology:	Human Disease [DOID:0080912]   ( DOID:0080912 )