A sex-linked recessive disorder affecting multiple systems including the EYE, the NERVOUS SYSTEM, and the KIDNEY. Clinical features include congenital CATARACT; MENTAL RETARDATION; and renal tubular dysfunction (FANCONI SYNDROME; RENAL TUBULAR ACIDOSIS; X-LINKED HYPOPHOSPHATEMIA or vitamin-D-resistant rickets) and SCOLIOSIS. This condition is due to a deficiency of phosphatidylinositol 4,5-bisphosphate-5-phosphatase leading to defects in PHOSPHATIDYLINOSITOL metabolism and INOSITOL signaling pathway. (from Menkes, Textbook of Child Neurology, 5th ed, p60; Am J Hum Genet 1997 Jun;60(6):1384-8)

Synonyms: Renal Oculocerebrodystrophy, Lowe Syndrome, Lowe-Bickel Syndrome, Cerebrooculorenal Syndrome, Lowe Disease, Cerebro-Oculo-Renal Syndrome, Deficiency, Phosphatidylinositol-4,5-Bisphosphate-5-Phosphatase, Phosphatidylinositol 4,5 Bisphosphate 5 Phosphatase Deficiency, Lowe-Terrey-MacLachlan Syndrome, Oculocerebrorenal Syndrome of Lowe, Dystrophy, Oculocerebrorenal, Oculocerebrorenal Syndrome, Cerebro Oculo Renal Syndrome, Phosphatidylinositol 4,5-Bisphosphate 5-Phosphatase Deficiency, Lowe Terrey MacLachlan Syndrome, Lowe Bickel Syndrome, Renal-Oculocerebrodystrophy, Lowe Oculocerebrorenal Syndrome, Phosphatidylinositol-4,5-Bisphosphate-5-Phosphatase Deficiency, Oculocerebrorenal Dystrophy