Human genes for orofaciodigital syndrome IV
Orofaciodigital syndrome IV [DOID:0060374]
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.
Synonyms: orofaciodigital syndrome IV, DOID:0060374, orofaciodigital syndrome IVs, Baraitser-Burn syndrome, OFD4 ...