ORPHA:772
Infantile Refsum disease
Also called IRD, Mild PBD-ZSD, Mild peroxisome biogenesis disorder-Zellweger spectrum disorder
- Body system
- Inborn errors of metabolism
- Inheritance pattern
- Autosomal recessive
- Typical age of onset
- All ages
- Estimated prevalence
- Unknown (Worldwide)
- Rarity class
- Unknown
ORPHA:772 is classified under "Inborn errors of metabolism" in the Orphanet nomenclature.
Common signs
- Visual impairment
- Rod-cone dystrophy
- Nyctalopia
- Constriction of peripheral visual field
- Global developmental delay
- Failure to thrive