Oculocerebrorenal syndrome of Lowe
ORPHA:534· ICD-10 E72.0
Definition
A rare multisystem disorder characterized by congenital cataracts, glaucoma, intellectual disabilities, seizures, postnatal growth retardation and renal tubular dysfunction with chronic renal failure.
- Prevalence
- 1-9 / 1 000 000
- Inheritance
- X-linked recessive
- Age of onset
- Antenatal, Neonatal