Term Name: | orofaciodigital syndrome IV |
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Synonyms: | 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. |
Ontology: | Human Disease [DOID:0060374] ( DOID:0060374 ) |