Disease‐causing variants in GLI2 have been associated with a spectrum of phenotypes, ranging from isolated pituitary hormone deficiencies to classic HPE and CJS, which is characterized by the triad of postaxial polydactyly, hypopituitarism, and craniofacial anomalies (Roessler et al. 2003). This evidence concerns the gene GLI2 and holoprosencephaly.