peroxisome biogenesis disorder 12A (Zellweger)
MONDO:0013951Mondo
Findings
No curated finding names peroxisome biogenesis disorder 12A (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
23 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.
- Atrial septal defectHPOHP:0001631
- 1 of 1 reported patient
- Brisk reflexesHPOHP:0001348
- 1 of 1 reported patient
- Cerebral atrophyHPOHP:0002059
- 1 of 1 reported patient
- Cranial asymmetryHPOHP:0000267
- 1 of 1 reported patient
- Decreased fetal movementHPOHP:0001558
- 1 of 1 reported patient
- Elevated circulating hepatic transaminase concentrationHPOHP:0002910
- 1 of 1 reported patient
- Elevated circulating long chain fatty acid concentrationHPOHP:0003455
- 1 of 1 reported patient
- EpicanthusHPOHP:0000286
- 1 of 1 reported patient
- Global developmental delayHPOHP:0001263
- 1 of 1 reported patient
- Hepatic failureHPOHP:0001399
- 1 of 1 reported patient
- HyperbilirubinemiaHPOHP:0002904
- 1 of 1 reported patient
- HypotoniaHPOHP:0001252
- 1 of 1 reported patient
Show the remaining 11
- Patent ductus arteriosusHPOHP:0001643
- 1 of 1 reported patient
- Periorbital fullnessHPOHP:0000629
- 1 of 1 reported patient
- Poor suckHPOHP:0002033
- 1 of 1 reported patient
- Prominence of the premaxillaHPOHP:0010759
- 1 of 1 reported patient
- Prominent noseHPOHP:0000448
- 1 of 1 reported patient
- SeizureHPOHP:0001250
- 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.
- PEX19HGNC:9713
- Definitive · G2P · Autosomal recessive · 2015
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
- Moderate · Ambry Genetics · Autosomal recessive · 2022