Peroxisome biogenesis disorder due to PEX7 defect

Any peroxisome biogenesis disorder in which the cause of the disease is a mutation in the PEX7 gene.

Also known as: PEX7 related peroxisome biogenesis disorder, adult refsum disease due to PEX7 defect (formerly), rhizomelic chondrodysplasia punctata type 1 (formerly)

9 clinical trials for this condition and its sub-types.