ORPHA:912
Zellweger syndrome
Also called Cerebrohepatorenal syndrome, Severe PBD-ZSD, Severe peroxisome biogenesis disorder-Zellweger spectrum disorder, ZS
- Body system
- Inborn errors of metabolism
- Inheritance pattern
- Autosomal recessive
- Typical age of onset
- Neonatal
- Estimated prevalence
- Unknown (Worldwide)
- Rarity class
- Unknown
ORPHA:912 is classified under "Inborn errors of metabolism" in the Orphanet nomenclature.
Common signs
- Abnormal pinna morphology
- Death in infancy
- Respiratory insufficiency
- Hepatomegaly
- EEG abnormality
- Skeletal dysplasia