Peroxisome biogenesis disorder due to PEX1 defect

Peroxisome biogenesis disorder due to PEX1 defect

Definition

Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX1 gene.

Also known as peroxisome biogenesis disorder due to PEX1 defect, PEX1 related Zellweger spectrum disorder — per MONDO

Also identified as