“…However, the phenotype associated with mutations in INPP5E is quite distinct, and includes cerebellar vermis hypodysplasia, coloboma, hypotonia, ataxia, and neonatal breathing dysregulation (Travaglini et al, 2013). In contrast, the phenotypes associated with Lowe's syndrome share many of the same features with PIK3C2A deficiency including congenital cataracts, secondary glaucoma, kidney defects, skeletal abnormalities, developmental delay, and short stature (Bökenkamp and Ludwig, 2016;Staiano et al, 2015). The enzyme defective in Lowe's syndrome, OCRL, is functionally similar to PIK3C2A as well, as it is also required for membrane trafficking and ciliogenesis (Mehta et al, 2014).…”