Peroxisome Biogenesis Disorder 4B

**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 4B is characterized by overlapping phenotypes of neonatal adrenoleukodystrophy and infantile Refsum disease.

**Synonyms:** - PBD4B