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oculocerebrorenal syndrome
oculocerebrorenal syndrome Oculocerebrorenal syndrome is an X-linked recessive disorder that affects several body systems, especially the eyes, nervous system, and kidneys.
Oculocerebrorenal syndrome is an X-linked recessive disorder that affects several body systems, especially the eyes, nervous system, and kidneys. It is marked by congenital cataracts, intellectual impairment, kidney tubular problems such as Fanconi syndrome or renal tubular acidosis, and sometimes scoliosis, and is linked to a deficiency that disrupts phosphatidylinositol metabolism and inositol signaling.