Defects such as neurodevelopmental delay, cataract, and hypotonia are features of the oculocerebrorenal syndrome of Lowe (Hoopes et al. 2005), reflecting the broader expression of OCRL (kidney, eye, and brain) vis-à-vis ClC-5, which is mainly expressed in the kidney (Fisher et al. 1994; Olivos-Glander et al. 1995). The gene discussed is OCRL; the disease is oculocerebrorenal syndrome.