OCRL and Dent disease: Lowe syndrome (OMIM phenotype number 309000) is an XLR condition resulting from inactivating variants in OCRL. The presentation resembles that of Dent disease 2 but also involves other systemic symptoms of hydrophthalmia, cataracts, severely impaired intellectual development, vitamin D-resistant rickets, and proximal RTA (Claverie-Martín et al., 2011).