/non-Zellweger spectrum disorder

non-Zellweger spectrum disorder

Rare Disease

MONDO:0100322

Also Known As

Definition

A peroxisome biogenesis disorder which is due to defect in PEX7 or PEX5. This includes rhizomelic chondrodysplasia punctata due to defect in PEX7 or PEX5, and adult Refsum Disease due to defects in PEX7.

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