Norrie disease
ORPHA:649· ICD-10 H35.5
Definition
A rare developmental defect during embryogenesis characterized by abnormal retinal development with congenital blindness. Common associated manifestations include sensorineural hearing loss and developmental delay, intellectual disability and/or behavioral disorders.
- Prevalence
- <1 / 1 000 000
- Inheritance
- X-linked recessive
- Age of onset
- Antenatal, Neonatal