peroxisome biogenesis disorder 8B

Findings

No curated finding names peroxisome biogenesis disorder 8B yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.

Definition

Inheritance

Autosomal recessive inheritance

Onset and course

Infantile onset · Progressive · Childhood onset

HPO, annotations 2026-09-02

What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.

Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.

Where it sits

A kind of

• peroxisome biogenesis disorder due to PEX16 defect

Resolves to: peroxisome biogenesis disorder 8B

Also called

peroxisome biogenesis disorder type 8B