Biallelic point variants that impair the phosphatase activity of INPP5K, giving rise to excess PtdIns(4,5)P2 in affected individuals’ cells, have been related to congenital muscular dystrophy with additional clinical manifestations, including cataracts, intellectual impairments, and short stature (Osborn et al., 2017; Wiessner et al., 2017). The gene discussed is INPP5K; the disease is congenital muscular dystrophy due to LMNA mutation.