Mutations that decrease the enzymatic activity of INPP5K are associated with an autosomal recessive human disorder characterized by congenital muscular dystrophy with hypoglycosylation of dystroglycan in combination with cataracts, intellectual disability, and short stature (Osborn et al., 2017; Wiessner et al., 2017), while some polymorphisms in INPP5K have been associated with Parkinson's disease (Zhu et al., 2018). The gene discussed is INPP5K; the disease is congenital muscular dystrophy due to LMNA mutation.