About The Medical Condition Cerebro-Oculo-Renal Syndrome
Find the definition of the medical term Cerebro-Oculo-Renal Syndrome. Cerebro-Oculo-Renal Syndrome defined and explained for easy understanding at the Medical Conditions from ClusterMed.info.
Cerebro-Oculo-Renal Syndrome
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What's The Definition Of The Medical Condition Cerebro-Oculo-Renal Syndrome?
A sex-linked recessive disorder of amino acid transport which affects the EYE; NERVOUS SYSTEM; and KIDNEY. Clinical manifestations include CATARACT; GLAUCOMA; developmental delay (which eventually leads to profound cognitive deficits); myopathy; peripheral neuropathy; and hypotonia. There is an associated generalized aminoaciduria of the FANCONI SYNDROME type; renal tubular acidosis (ADIDOSIS, RENAL TUBULAR); and hypophosphatemic RICKETS. This condition has been associated with deficient activity of the enzyme phosphatidylinositol 4,5-bisphosphate-5-phosphatase. (Menkes, Textbook of Child Neurology, 5th ed, p60; Am J Hum Genet 1997 Jun;60(6):1384-8)
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