About The Medical Condition Cerebrooculorenal Syndromes

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Find the definition of the medical term Cerebrooculorenal Syndromes. Cerebrooculorenal Syndromes defined and explained for easy understanding at the Medical Conditions from ClusterMed.info.

Cerebrooculorenal Syndromes

Cerebrooculorenal Syndromes Medical Condition Defined & Explained
Cerebrooculorenal Syndromes Medical Condition

What's The Definition Of The Medical Condition Cerebrooculorenal Syndromes?

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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