Peroxisome Biogenesis Disorder 7B

**Semantic type:** Disease or Syndrome

**Definition:** An autosomal recessive condition caused by mutation(s) in the PEX26 gene, encoding peroxisome assembly protein 26. Peroxisome biogenesis disorder 7B is characterized by overlapping phenotypes of neonatal adrenoleukodystrophy and infantile Refsum disease.

**Synonyms:** - PBD7B