ORPHA:534
Oculocerebrorenal syndrome of Lowe
Also called Lowe disease, Lowe oculo-cerebro-renal dystrophy, Lowe oculo-cerebro-renal syndrome, Lowe oculocerebrorenal dystrophy, Lowe syndrome, OCRL
- Body system
- Inborn errors of metabolism
- Inheritance pattern
- X-linked recessive
- Typical age of onset
- Antenatal, Neonatal
- Estimated prevalence
- 1-9 / 1 000 000 (Worldwide)
- Rarity class
- 1-9 / 1 000 000
ORPHA:534 is classified under "Inborn errors of metabolism" in the Orphanet nomenclature.
Common signs
- Renal insufficiency
- Abnormal renal tubule morphology
- Proteinuria
- Cataract
- Abnormal pupil morphology
- Nystagmus