Biallelic variants in DDRGK1, PANK2, and SLC4A11 cause variable clinical conditions (Supporting Information Results), whereas AVP (MIM# 192340) and SLC4A11 (MIM# 610206) haploinsufficiency is associated with autosomal dominant neurohypophyseal diabetes insipidus (MIM# 125700) and corneal dystrophy (Fuchs endothelial, type 4; MIM# 613268) (Christensen et al., 2004; Vithana et al., 2008). Here, DDRGK1 is linked to corneal dystrophy.