orofaciodigital syndrome IV (DOID:0060374)
Alliance: disease page
Synonyms: Baraitser-Burn syndrome; OFD4
Alt IDs: OMIM:258860, MESH:C537133, ORDO:2753, UMLS_CUI:C0406727
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.