peroxisome biogenesis disorder 13A (Zellweger)
MONDO:0013952Mondo
Findings
No curated finding names peroxisome biogenesis disorder 13A (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 · Infantile onset · Neonatal death
HPO, annotations 2026-09-02
Features
26 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
- Axial hypotoniaHPOHP:0008936
- 1 of 1 reported patient
- Conjugated hyperbilirubinemiaHPOHP:0002908
- 1 of 1 reported patient
- Depressed nasal bridgeHPOHP:0005280
- 1 of 1 reported patient
- DolichocephalyHPOHP:0000268
- 1 of 1 reported patient
- Elevated circulating alanine aminotransferase concentrationHPOHP:0031964
- 1 of 1 reported patient
- Elevated circulating aspartate aminotransferase concentrationHPOHP:0031956
- 1 of 1 reported patient
- Elevated urinary dicarboxylic acid levelHPOHP:0003215
- 1 of 1 reported patient
- Feeding difficultiesHPOHP:0011968
- 1 of 1 reported patient
- Flat occiputHPOHP:0005469
- 1 of 1 reported patient
- Generalized hypotoniaHPOHP:0001290
- 1 of 1 reported patient
- Gray matter heterotopiaHPOHP:0002282
- 1 of 1 reported patient
Show the remaining 14
- HepatomegalyHPOHP:0002240
- 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
- Intrahepatic cholestasisHPOHP:0001406
- 1 of 1 reported patient
- JaundiceHPOHP:0000952
- 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.
- PEX14HGNC:8856
- Definitive · G2P · Autosomal recessive · 2025
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2018