Rare Zebra

Rare disease search prototype built on Orphanet data

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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