progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
Findings
No curated finding names progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any autosomal recessive progressive external ophthalmoplegia in which the cause of the disease is a mutation in the POLG gene.
Definition from the Mondo Disease Ontology (MONDO:0009783), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Middle age onset · Young adult onset
HPO, annotations 2026-09-02
Features
29 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.
- Babinski signHPOHP:0003487
- 1 of 1 reported patient
- Bilateral ptosisHPOHP:0001488
- 2 of 2 reported patients
- Cerebellar atrophyHPOHP:0001272
- 1 of 1 reported patient
- Cytochrome C oxidase-negative muscle fibersHPOHP:0003688
- 1 of 1 reported patient
- Difficulty climbing stairsHPOHP:0003551
- 1 of 1 reported patient
- DiplopiaHPOHP:0000651
- 1 of 1 reported patient
- Distal muscle weaknessHPOHP:0002460
Show the remaining 17
- Gait ataxiaHPOHP:0002066
- 1 of 1 reported patient
- Increased variability in muscle fiber diameterHPOHP:0003557
- 2 of 2 reported patients
- Intention tremorHPOHP:0002080
- 1 of 1 reported patient
- Multiple mitochondrial DNA deletionsHPOHP:0003689
- 1 of 1 reported patient
- Muscle fiber atrophyHPOHP:0100295
- 1 of 1 reported patient
- Progressive external ophthalmoplegiaHPOHP:0000590
- 3 of 3 reported patients
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.
- POLGHGNC:9179
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
Other names
3 names
Resolves to: progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
- Also called
- autosomal recessive progressive external ophthalmoplegia caused by mutation in POLGPOLG autosomal recessive progressive external ophthalmoplegiaprogressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive type 1