C155762Level 8
Peroxisome Biogenesis Disorder 8A
**Semantic type:** Disease or Syndrome
**Definition:** An autosomal recessive condition caused by mutation(s) in the PEX16 gene, encoding peroxisomal membrane protein PEX16. Peroxisome biogenesis disorder 8A manifests phenotypically as Zellweger syndrome.
**Synonyms:** - PBD8A
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