Genetic analysis of 282 patients with congenital hypopituitarism with and without eye defects revealed two heterozygous OTX2 variants: the previously reported c.295C>T, p.Q99* (13, 22) in an extended family with variable phenotypes (Fig. 2), and a rare variant of unknown significance, c.689A>T, p.H230L, that our studies have now shown to be most likely not causative of the patient phenotype (Supplementary Fig. 1, see section on supplementary materials given at the end of this article). The gene discussed is OTX2; the disease is non-acquired combined pituitary hormone deficiency.