This disease is caused by mutations in oculocerebrorenal syndrome of Lowe (OCRL), inositol 5-phosphatase (62) which preferentially acts on PI(4,5)P2 and phosphatidylinositol 3,4,5-trisphosphate [PI(3,4,5)P3]. This evidence concerns the gene OCRL and oculocerebrorenal syndrome.