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.
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Oculocerebrorenal syndrome
Oculocerebrorenal syndrome (also called Lowe syndrome) is a rare X-linked recessive disorder characterized by congenital cataracts, hypotonia, intellectual disability, proximal tubular acidosis, aminoaciduria and low-molecular-weight proteinuria. Lowe syndrome can be considered a cause of Fanconi syndrome (bicarbonaturia, renal tubular acidosis, potassium loss and sodium loss).
Background only. Canonical identity remains MONDO; clinical-trial relationships come from ClinicalTrials.gov.Clinical trials
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Disease identity and terminology: MONDO. Trial relationships: ClinicalTrials.gov.