Orphanet: Zellweger syndrome

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Zellweger syndrome

Disease 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.


Classification level: Disorder

Detailed information

Article for general public


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