Knobloch syndrome
ORPHA:1571· ICD-10 Q15.8
Definition
A rare systemic disorder characterized by vitreoretinal and macular degeneration, as well as occipital encephalocele.
- Prevalence
- <1 / 1 000 000
- Inheritance
- Autosomal recessive
- Age of onset
- Antenatal, Infancy, Neonatal