Pathogenic variants in different domains of the gene underlie several congenital diseases including GCPS (MIM ID#175700), PHS (MIM ID #146510), preaxial polydactyly type IV (MIM ID #174700), and postaxial polydactyly types A1 and B (MIM ID #174200), Acrocallosal Syndrome (MIM ID #200990), trigonocephaly with craniosynostosis and polydactyly, and some types of oral-facial-digital syndromes [14]. Here, GLI3 is linked to postaxial polydactyly type B.