Peroxisome Biogenesis Disorder 3B

**Semantic type:** Disease or Syndrome

**Definition:** An autosomal recessive condition caused by mutation(s) in the PEX12 gene, encoding peroxisome assembly protein 12. Peroxisome biogenesis disorder 3B is characterized by overlapping phenotypes of neonatal adrenoleukodystrophy and infantile Refsum disease.

**Synonyms:** - PBD3B