peroxisome biogenesis disorder 7A (Zellweger)
MONDO:0013938Mondo
Findings
No curated finding names peroxisome biogenesis disorder 7A (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
- Death in infancy · Congenital onset
HPO, annotations 2026-09-02
Features
17 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.
- CataractHPOHP:0000518
- 1 of 1 reported patient
- Elevated circulating hexacosanoic acid concentrationHPOHP:0034298
- 1 of 1 reported patient
- Elevated circulating tetracosanoic acid concentrationHPOHP:0034297
- 1 of 1 reported patient
- Flat faceHPOHP:0012368
- 1 of 1 reported patient
- Flat occiputHPOHP:0005469
- 1 of 1 reported patient
- High foreheadHPOHP:0000348
- 1 of 1 reported patient
- High palateHPOHP:0000218
- 1 of 1 reported patient
- JaundiceHPOHP:0000952
- 1 of 1 reported patient
- Large posterior fontanelleHPOHP:0004491
- 1 of 1 reported patient
- Long philtrumHPOHP:0000343
- 1 of 1 reported patient
- Low-set earsHPOHP:0000369
- 1 of 1 reported patient
- NystagmusHPOHP:0000639
- 1 of 1 reported patient
Show the remaining 5
- PolymicrogyriaHPOHP:0002126
- 1 of 1 reported patient
- Posteriorly rotated earsHPOHP:0000358
- 1 of 1 reported patient
- Severe muscular hypotoniaHPOHP:0006829
- 1 of 1 reported patient
- Talipes equinovarusHPOHP:0001762
- 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.
- PEX26HGNC:22965
- Definitive · G2P · Autosomal recessive · 2025
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020