INPP5K and Intellectual disability: In humans, homozygous or compound heterozygous mutations in INPP5K have been causally linked to a form of muscular dystrophy with cataracts and intellectual disability (MIM: 617404) also associated with short stature, and microcephaly with considerable variability in the age of onset and clinical presentation (Osborn et al. 2017; Wiessner et al. 2017; Yousaf et al. 2017; D’Amico et al. 2020; Hathazi et al. 2021).