peroxisome biogenesis disorder 11B
MONDO:0013950Mondo
Findings
No curated finding names peroxisome biogenesis disorder 11B 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
- Childhood onset
HPO, annotations 2026-09-02
Features
6 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.
- Feeding difficultiesHPOHP:0011968
- 1 of 1 reported patient
- Hearing impairmentHPOHP:0000365
- 1 of 1 reported patient
- HypotoniaHPOHP:0001252
- 1 of 1 reported patient
- Muscle weaknessHPOHP:0001324
- 1 of 1 reported patient
- Visual lossHPOHP:0000572
- 1 of 1 reported patient
- HepatosplenomegalyHPOHP:0001433
- 0 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.
- PEX13HGNC:8855
- Definitive · G2P · Autosomal recessive · 2017
Where it sits
Other names
1 name
Resolves to: peroxisome biogenesis disorder 11B
- Also called
- peroxisome biogenesis disorder type 11B