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Key Fact

Lowe syndrome is a rare genetic syndrome, affecting 1 in 500,000 people. 

History and Prevalence of Lowe Syndrome

Lowe syndrome was first described in 1952 by Dr. Charles Lowe and colleagues.

 

Lowe syndrome is a rare genetic syndrome. It has an estimated prevalence of 1 in 500,000 people.

 

Lowe Syndrome is nearly exclusively present in males, but exceptionally rare cases have been documented in females.

 

Other names for Lowe syndrome include: cerebrooculorenal syndrome, Lowe oculocerebrorenal syndrome, oculocerebrorenal syndrome, oculocerebrorenal syndrome of Lowe, phosphatidylinositol-4,5-bisphosphate-5-phosphatase deficiency and OCRL1 syndrome.

 

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