peroxisome biogenesis disorder 4A (Zellweger)
MONDO:0013930Mondo
Findings
No curated finding names peroxisome biogenesis disorder 4A (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 · Neonatal 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.
- Absence of peroxisomesHPOHP:0034553
- 1 of 1 reported patient
- Depressed nasal bridgeHPOHP:0005280
- 1 of 1 reported patient
- Epicanthus inversusHPOHP:0000537
- 1 of 1 reported patient
- Epiphyseal stipplingHPOHP:0010655
- 1 of 1 reported patient
- Generalized hypotoniaHPOHP:0001290
- 1 of 1 reported patient
- HepatomegalyHPOHP:0002240
- 1 of 1 reported patient
- HypertelorismHPOHP:0000316
- 1 of 1 reported patient
- Increased circulating very long-chain fatty acid concentrationHPOHP:0033643
- 1 of 1 reported patient
- Respiratory failureHPOHP:0002878
- 1 of 1 reported patient
- Upslanted palpebral fissureHPOHP:0000582
- 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.
- PEX6HGNC:8859
- Definitive · Myriad Women's Health · Autosomal recessive · 2018
- Definitive · G2P · Autosomal recessive · 2015
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
Where it sits
Other names
1 name
Resolves to: peroxisome biogenesis disorder 4A (Zellweger)
- Also called
- classic peroxisome biogenesis disorder