Variants located in different GLI3 structural domains can lead to different congenital disorders, including Greig cephalopolysyndactyly syndrome (GCPS; MIM 175700), Pallister–Hall syndrome (PHS; MIM 146510), non-syndromic PAP (PAP-A/B; MIM 174200), and PPD type IV (PPD-IV; MIM 174700) (Al-Qattan et al., 2017). This evidence concerns the gene GLI3 and pulmonary alveolar proteinosis.