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C155754Level 8

Peroxisome Biogenesis Disorder 4A

**Semantic type:** Disease or Syndrome

**Definition:** An autosomal recessive condition caused by mutation(s) in the PEX6 gene, peroxisome assembly factor 2. Peroxisome biogenesis disorder 4A manifests phenotypically as Zellweger syndrome.

**Synonyms:** - PBD4A

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