Biallelic variants impairing catalytic activity of INPP5K have causally been associated with a form of congenital muscular dystrophy characterized by cataracts, cerebellar atrophy, epilepsy, intellectual disability, and short stature (Osborn et al., 2017; Wiessner et al., 2017). Here, INPP5K is linked to congenital muscular dystrophy.