progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5
MONDO:0020845Mondo
Findings
No curated finding names progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5 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
- Late onset
HPO, annotations 2026-09-02
Features
18 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.
- ArrhythmiaHPOHP:0011675
- 1 of 1 reported patient
- AtaxiaHPOHP:0001251
- 1 of 1 reported patient
- Broad-based gaitHPOHP:0002136
- 1 of 1 reported patient
- Cerebellar atrophyHPOHP:0001272
- 1 of 1 reported patient
- DiplopiaHPOHP:0000651
- 1 of 1 reported patient
- DysarthriaHPOHP:0001260
- 1 of 1 reported patient
- DysmetriaHPOHP:0001310
- 1 of 1 reported patient
- DysphagiaHPOHP:0002015
- 1 of 1 reported patient
- Elevated circulating creatine kinase activityHPOHP:0003236
- 1 of 1 reported patient
- Exercise intoleranceHPOHP:0003546
- 1 of 1 reported patient
- Mildly reduced left ventricular ejection fractionHPOHP:0012663
- 1 of 1 reported patient
- Nasal regurgitationHPOHP:0011469
- 1 of 1 reported patient
Show the remaining 6
- Neck flexor weaknessHPOHP:0003722
- 1 of 1 reported patient
- Progressive external ophthalmoplegiaHPOHP:0000590
- 1 of 1 reported patient
- Proximal muscle weaknessHPOHP:0003701
- 1 of 1 reported patient
- PtosisHPOHP:0000508
- 1 of 1 reported patient
- Sensorineural hearing impairmentHPOHP:0000407
- 1 of 1 reported patient
- Sensory neuropathyHPOHP:0000763
- 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.
- TOP3AHGNC:11992
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Limited · PanelApp Australia · Autosomal recessive · 2025
Where it sits
Other names
2 names
Resolves to: progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5
- Also called
- PEOB5progressive external ophthalmoplegia, autosomal recessive 5