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Oculocerebrorenal syndrome

MONDO:0010645

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

4 clinical trials for this condition and its sub-types.

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Broader categories

Disease (680) Metabolic disease (233) Kidney disorder (214) Hereditary disease (176) Eye disorder (102) Urinary system disorder (66) Inborn errors of metabolism (45) Syndromic disease (25) Human disease (14) Inborn disorder of amino acid metabolism (4)
Trials to join now! 2 Not yet recruiting 1 Completed 1
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  • Scientists investigate why lowe syndrome patients bleed more

    Knowledge-focused Completed

    This study looked at why people with Lowe syndrome, a rare genetic disorder, may have unusual bleeding. Researchers took blood samples from 30 patients to test how well their platelets work. The goal was to confirm and understand any platelet problems that could cause bleeding ev…

    Phase: NA • Sponsor: Assistance Publique - Hôpitaux de Paris • Aim: Knowledge-focused

    Last updated Jun 27, 2026 07:59 UTC

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