Peroxisome Biogenesis Disorder 6B

**Semantic type:** Disease or Syndrome

**Definition:** An autosomal recessive condition caused by mutation(s) in the PEX10 gene, encoding peroxisome biogenesis factor 10. Peroxisome biogenesis disorder 6B is characterized by overlapping phenotypes of neonatal adrenoleukodystrophy and infantile Refsum disease.

**Synonyms:** - PBD6B