He was diagnosed with DENT2 after genetic testing, whereas the other was a maternally inherited missense variant (p.H660Y) in patient N232, who presented with hematuria, proteinuria, and extrarenal symptoms of congenital cataract, short stature, and intellectual disability that were consistent with the Lowe oculocerebrorenal syndrome (OCRL). The gene discussed is OCRL; the disease is Intellectual disability.