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Metadata
ID	DOID:0060962
Name	orofaciodigital syndrome XX
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. https://pubmed.ncbi.nlm.nih.gov/37384395/
Xrefs	MIM:620718
Parent Relationships	is_a orofaciodigital syndrome is_a autosomal recessive disease
Subclass Logical Relationships	has material basis in some autosomal recessive inheritance