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Oculocerebrorenal syndrome

Synonym(s) Lowe disease
Lowe oculo-cerebro-renal syndrome
Lowe syndrome
Oculo-cerebro-renal dystrophy
Oculo-cerebro-renal syndrome
Oculocerebrorenal dystrophy
Phosphatidylinositol 4,5-biphosphate 5-phosphatase deficiency
Prevalence 1-9 / 1 000 000
Inheritance X-linked recessive
Age of onset Neonatal
  • E72.0
  • C0028860
  • D009800
  • 10051707


Oculocerebrorenal syndrome of Lowe (OCRL) is a multisystem disorder characterized by congenital cataracts, glaucoma, intellectual disabilities, growth retardation and renal tubular dysfunction.

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Review article
Guidance for genetic testing
Article for general public
Clinical genetics review
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