INPP5K and muscular dystrophy, congenital, with cataracts and intellectual disability: Mutations in INPP5K, the enzyme with 5-phosphatase activity toward PIs (Ijuin et al., 2000; Vandeput et al., 2006), were reported in patients suffering from congenital muscular dystrophy with cataracts and intellectual disability (MDCCAID) and short stature (Osborn et al., 2017; Wiessner et al., 2017).