Furthermore, mutations or dysregulation of GLI2 are linked to multiple human developmental diseases, such as Culler-Jones syndrome (OMIM #615849), characterized by hypopituitarism, abnormalities of the external genitalia, and postaxial polydactyly (86) and holoprosencephaly 9 (HPE9, OMIM #610829) (87). Here, GLI2 is linked to holoprosencephaly 9.