peroxisome biogenesis disorder 3A (Zellweger)
MONDO:0013927Mondo
Findings
No curated finding names peroxisome biogenesis disorder 3A (Zellweger) 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
- Congenital onset
HPO, annotations 2026-09-02
Features
10 features
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.
- AreflexiaHPOHP:0001284
- 1 of 1 reported patient
- Flat faceHPOHP:0012368
- 1 of 1 reported patient
- High foreheadHPOHP:0000348
- 1 of 1 reported patient
- HypotoniaHPOHP:0001252
- 1 of 1 reported patient
- Increased circulating very long-chain fatty acid concentrationHPOHP:0033643
- 1 of 1 reported patient
- Low-set earsHPOHP:0000369
- 1 of 1 reported patient
- Polycystic kidney dysplasiaHPOHP:0000113
- 1 of 1 reported patient
- Poor suckHPOHP:0002033
- 1 of 1 reported patient
- SeizureHPOHP:0001250
- 1 of 1 reported patient
- Wide anterior fontanelHPOHP:0000260
- 1 of 1 reported patient
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.
- PEX12HGNC:8854
- Definitive · Myriad Women's Health · Autosomal recessive · 2018
- Definitive · G2P · Autosomal recessive · 2015
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020