These include Pallister‐Hall syndrome (PHS), as well as HPE9 and Culler‐Jones syndrome (CJS), due to dominant mutations in the GLI3 and GLI2 genes, respectively, and hydrolethalus syndrome related to recessive mutations in HYLS1 and KIF7 (Kruszka & Muenke, 2018). Here, HYLS1 is linked to Hydrolethalus.