Human variants in the GLI3 gene are known to cause Pallister-Hall Syndrome (PHS; OMIM: 146510) and Greig cephalopolysyndactyly syndrome (GCPS; OMIM: 175700), and non-syndromic postaxial polydactyly types A1 and B (PAPA1/PAPB; OMIM: 174200) and preaxial polydactyly type IV (PPD-IV; OMIM: 174700). Here, GLI3 is linked to Pallister-Hall syndrome.