" /> Zellweger syndrome - CISMeF





Preferred Label : Zellweger syndrome;

ICD-11 definition : Zellweger syndrome is a rare peroxisomal metabolic-dysplasia disorder characterized by dysmorphic craniofacial features, profound hypotonia, seizures, and liver and renal dysfunction.;

ICD-11 synonym : Zellweger spectrum disorder, severe form; Cerebrohepatorenal syndrome;

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Zellweger syndrome is a rare peroxisomal metabolic-dysplasia disorder characterized by dysmorphic craniofacial features, profound hypotonia, seizures, and liver and renal dysfunction.

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31/07/2025


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