Zellweger syndrome
ORPHA:912· ICD-10 Q87.8
Definition
A rare peroxisome biogenesis disorder (the most severe variant of Peroxisome biogenesis disorder spectrum) characterized by neuronal migration defects in the brain, dysmorphic craniofacial features, profound hypotonia, neonatal seizures, and liver dysfunction.
- Prevalence
- Unknown
- Inheritance
- Autosomal recessive
- Age of onset
- Neonatal