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orofaciodigital syndrome IV
Summary
- Synonym
-
- Baraitser-Burn syndrome
- OFD4
- Definition
- An orofaciodigital syndrome that is characterized by dysmorphic facies, the development of harmartomas of the tongue, polydactyly and limb dysplasia, has_material_basis_in autosomal recessive inheritance of mutations in the TCTN3 gene.
- Super Class
- autosomal recessive disease orofaciodigital syndrome
External Links
- Disease Ontology
- DOID:0060374
- Mondo Disease Ontology
- MeSH
- UMLS
- ORDO
- OMIM
