Notably, mutations in humans that impair the phosphatase activity of INPP5K lead to congenital muscular dystrophy with additional clinical manifestations, including intellectual impairments, suggesting that INPP5K plays an important role in the nervous system to maintain proper function of neurons (Osborn et al, 2017; Wiessner et al, 2017). The gene discussed is INPP5K; the disease is Cognitive impairment.