Disease-gene associations mined from literature

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 ...