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vertebral hypersegmentation and orofacial anomalies
Summary
- Synonym
-
- VHO
- Definition
- A syndrome characterized by supernumerary cervical, thoracic, and/or lumbar vertebrae, in association with supernumerary ribs that has_material_basis_in heterozygous mutation in the GDF11 gene on chromosome 12q13.
- Super Class
- autosomal dominant disease syndrome
External Links
- Disease Ontology
- DOID:0070418
- Mondo Disease Ontology
- OMIM
Related Genes
