Further pleiotropy is evidenced from screening of 37 families with pituitary stalk interruption syndrome using whole exome sequencing, which identified three patients with CHH who harboured two different predicted pathogenic missense variants in WDR11 (NM_018117: c.T109G, p.Y37D and c.G3571A, p.G1191S) and one with a predicted essential splice site loss of function variant (NM_018117: c.199–9T>C) [58]. Here, WDR11 is linked to pituitary stalk interruption syndrome.