peroxisome biogenesis disorder 9B
MONDO:0013945Mondo
Findings
No curated finding names peroxisome biogenesis disorder 9B 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
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.
- CardiomyopathyHPOHP:0001638
- 1 of 1 reported patient · Adult onset
- Constriction of peripheral visual fieldHPOHP:0001133
- 1 of 1 reported patient
- Distal muscle weaknessHPOHP:0002460
- 1 of 1 reported patient
- Elevated circulating phytanic acid concentrationHPOHP:0010571
- 1 of 1 reported patient
- NyctalopiaHPOHP:0000662
- 1 of 1 reported patient
- PolyneuropathyHPOHP:0001271
- 1 of 1 reported patient
- Reduced visual acuityHPOHP:0007663
- 1 of 1 reported patient
- Rod-cone dystrophyHPOHP:0000510
- 1 of 1 reported patient
- Sensorineural hearing impairmentHPOHP:0000407
- 1 of 1 reported patient
- Total anosmiaHPOHP:0010632
- 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.
- PEX7HGNC:8860
- Definitive · G2P · Autosomal recessive · 2017
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
- Moderate · Ambry Genetics · Autosomal recessive · 2018
Where it sits
- A kind of
Other names
1 name
Resolves to: peroxisome biogenesis disorder 9B
- Also called
- peroxisome biogenesis disorder type 9B