Peroxisome Biogenesis Disorder 1B

**Semantic type:** Disease or Syndrome

**Definition:** An autosomal recessive condition caused by mutation(s) in the PEX1 gene, encoding peroxisome biogenesis factor 1. Peroxisome biogenesis disorder 1B is characterized by overlapping phenotypes of neonatal adrenoleukodystrophy and infantile Refsum disease.

**Synonyms:** - PBD1B