Peroxisome biogenesis disorder due to PEX5 defect in the PEX7-binding domain

Definition

Any peroxisome biogenesis disorder due to PEX5 in which the cause of the disease is a mutation in the PEX7-binding domain of the PEX5 gene.

Also known as peroxisome biogenesis disorder due to PEX5 defect in the PEX7-binding domain — per MONDO