Oculocerebrorenal syndrome
Oculocerebrorenal syndrome
Definition
Oculocerebrorenal syndrome of Lowe (OCRL) is a multisystem disorder characterized by congenital cataracts, glaucoma, intellectual disabilities, postnatal growth retardation and renal tubular dysfunction with chronic renal failure.
Also known as Lowe disease, Lowe oculo-cerebro-renal syndrome, Lowe oculocerebrorenal syndrome, Lowe syndrome, Lowe syndrome, X-linked recessive, OCR, OCRL, oculo-cerebro-renal dystrophy, oculo-cerebro-renal syndrome, oculocerebrorenal dystrophy, oculocerebrorenal syndrome, oculocerebrorenal syndrome of Lowe, phosphatidylinositol 4,5-biphosphate 5-phosphatase deficiency — per MONDO