Zellweger syndrome

Orpha code: 912OMIM code: 614887

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.

Disease data
Classification

Disease

Synonyms
Cerebrohepatorenal syndrome
Zespół mózgowo-wątrobowo-nerkowy
ZS
Severe PBD-ZSD
Severe peroxisome biogenesis disorder-Zellweger spectrum disorder
ZS
ORPHA code
912
OMIM code
614887
ICD10 code
Q87.8
ICD11 code
5C57.0

No additional description.

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