orofaciodigital syndrome XX

Term ID

DOID:0060962

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. https://pubmed.ncbi.nlm.nih.gov/37384395/

References

• MIM:620718

Ontology

Human Disease   ( DOID:0060962 )