Oculocerebrorenal syndrome of Lowe

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Oculocerebrorenal syndrome of Lowe

Synonyms: Lowe disease | Lowe oculo-cerebro-renal dystrophy | Lowe oculo-cerebro-renal syndrome | Lowe oculocerebrorenal dystrophy | Lowe syndrome | OCRL | Phosphatidylinositol 4,5-biphosphate 5-phosphatase deficiency

A rare multisystem disorder characterized by congenital cataracts glaucoma intellectual disabilities seizures postnatal growth retardation and renal tubular dysfunction with chronic renal failure.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version December 2023

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Oculocerebrorenal syndrome of Lowe?

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Advocacy Organizations

Mississippi Metabolics Foundation

Mississippi Metabolics Foundation (MMF) was founded to raise awareness, educate, and provide support to those living or caring for someone with genetic metabolic disorders/inborn errors of metabolism (IEM).

Clinical Trials

For a list of clinical trials in this disease area, please click here.