peroxisome biogenesis disorder 8A (Zellweger)
MONDO:0013942Mondo
Findings
No curated finding names peroxisome biogenesis disorder 8A (Zellweger) yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Features
1 feature
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.
- Ventricular septal defectHPOHP:0001629
Genes
1 gene
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.
- PEX16HGNC:8857
- Definitive · G2P · Autosomal recessive · 2015
- Moderate · Ambry Genetics · Autosomal recessive · 2018