In the 13 subjects with congenital hypopituitarism in our study, rare variants that are predicted to be pathogenic were found in 10 genes implicated in pituitary development including 8 genes (ARID1B, CDON, CHD7, LHX3, LHX4, PAX6, SIX6, and SOX3) reported to be associated with pituitary hormone deficiencies in humans. Here, PAX6 is linked to hypopituitarism.