peroxisome biogenesis disorder 14B
MONDO:0013967Mondo
Findings
No curated finding names peroxisome biogenesis disorder 14B 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
- Juvenile onset
HPO, annotations 2026-09-02
Features
15 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.
- Areflexia of lower limbsHPOHP:0002522
- 1 of 1 reported patient
- Chiari type I malformationHPOHP:0007099
- 1 of 1 reported patient
- Developmental cataractHPOHP:0000519
- 2 of 2 reported patients
- HypertoniaHPOHP:0001276
- 1 of 1 reported patient
- Intellectual disabilityHPOHP:0001249
- 1 of 1 reported patient
- Loss of ambulationHPOHP:0002505
- 1 of 1 reported patient
- MigraineHPOHP:0002076
- 1 of 1 reported patient
- Mild intellectual disabilityHPOHP:0001256
- 1 of 1 reported patient
- MyopiaHPOHP:0000545
- 1 of 1 reported patient
- NystagmusHPOHP:0000639
- 1 of 1 reported patient
- Progressive hearing impairmentHPOHP:0001730
- 1 of 1 reported patient
- Rotary nystagmusHPOHP:0001583
- 1 of 1 reported patient
Show the remaining 3
- StrabismusHPOHP:0000486
- 1 of 1 reported patient
- EEG abnormalityHPOHP:0002353
- 0 of 1 reported patient
- PolyneuropathyHPOHP:0001271
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.
- PEX11BHGNC:8853
- Definitive · G2P · Autosomal recessive · 2017
- Strong · Ambry Genetics · Autosomal recessive · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
Other names
2 names
Resolves to: peroxisome biogenesis disorder 14B
- Also called
- peroxisome biogenesis disorder type 14BPEX11B peroxisome biogenesis disorder