Term Name:	orofaciodigital syndrome XX
Synonyms:
Definition:	An orofaciodigital syndrome that is characterized by bilateral oral clefting, polydactyly/syndactyly, cerebral malformations, cardiac defects, anorectal anomalies, and shortening of the long bones that has_material_basis_in homozygous or compound heterozygous mutation in the RAB34 gene on chromosome 17q11.
Ontology:	Human Disease [DOID:0060962]   ( DOID:0060962 )