maternally-inherited progressive external ophthalmoplegia
MONDO:0019016Mondo
Findings
No curated finding names maternally-inherited progressive external ophthalmoplegia yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Features
17 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.
- Muscle abnormality related to mitochondrial dysfunctionHPOHP:0003800
- Very frequent (80% to 99% of cases)
- Progressive external ophthalmoplegiaHPOHP:0000590
- Very frequent (80% to 99% of cases)
- Abnormal mitochondria in muscle tissueHPOHP:0008316
- Frequent (30% to 79% of cases)
- Axial muscle weaknessHPOHP:0003327
- Frequent (30% to 79% of cases)
- Brisk reflexesHPOHP:0001348
- Frequent (30% to 79% of cases)
- EMG abnormalityHPOHP:0003457
- Frequent (30% to 79% of cases)
- HypothyroidismHPOHP:0000821
- Frequent (30% to 79% of cases)
- Increased circulating lactate concentrationHPOHP:0002151
- Frequent (30% to 79% of cases)
- Mildly elevated creatine kinaseHPOHP:0008180
- Frequent (30% to 79% of cases)
- Progressive proximal muscle weaknessHPOHP:0009073
- Frequent (30% to 79% of cases)
- PtosisHPOHP:0000508
- Frequent (30% to 79% of cases)
- Ragged-red muscle fibersHPOHP:0003200
- Frequent (30% to 79% of cases)
Reported absent (1)
- DiplopiaHPOHP:0000651
Show the remaining 5
- Respiratory insufficiency due to muscle weaknessHPOHP:0002747
- Frequent (30% to 79% of cases)
- Restrictive ventilatory defectHPOHP:0002091
- Frequent (30% to 79% of cases)
- DepressionHPOHP:0000716
- Occasional (5% to 29% of cases)
- Mild intellectual disabilityHPOHP:0001256
- Occasional (5% to 29% of cases)
- StrabismusMondoHP:0000486
Where it sits
Other names
2 names
Resolves to: maternally-inherited progressive external ophthalmoplegia
- Also called
- maternally-inherited chronic progressive external ophthalmoplegiamaternally-inherited CPEO