RHYNS syndrome
ORPHA:140976· ICD-10 Q87.8
Definition
A rare genetic, syndromic retinal disorder characterized by the association of retinitis pigmentosa, hypopituitarism, nephronophthisis, and skeletal dysplasia.
- Prevalence
- <1 / 1 000 000
- Inheritance
- Autosomal recessive
- Age of onset
- Antenatal, Infancy, Neonatal