RPGRIP1L and pituitary stalk interruption syndrome: In addition, whole exome sequencing of a patient with pituitary stalk interruption syndrome identified a pathogenic variant in CC2D2A, which is associated with absent corpus callosum [78], and a patient with Joubert syndrome, nephronophthisis, and pituitary agenesis has a splice acceptor site variant in RPGRIP1L [79].