oculopharyngodistal myopathy 3
MONDO:0023671Mondo
Findings
No curated finding names oculopharyngodistal myopathy 3 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Infantile onset · Middle age onset · Young adult onset
HPO, annotations 2026-09-02
Features
24 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.
- DysarthriaHPOHP:0001260
- 7 of 7 reported patients
- HyporeflexiaHPOHP:0001265
- 7 of 7 reported patients
- Increased CSF protein concentrationHPOHP:0002922
- 5 of 5 reported patients
- Increased endomysial connective tissueHPOHP:0100297
- 7 of 7 reported patients
- Increased variability in muscle fiber diameterHPOHP:0003557
- 7 of 7 reported patients
- Limb muscle weaknessHPOHP:0003690
- 7 of 7 reported patients
- OphthalmoplegiaHPOHP:0000602
- 7 of 7 reported patients
- PtosisHPOHP:0000508
- 7 of 7 reported patients
- Rimmed vacuolesHPOHP:0003805
- 7 of 7 reported patients
- DysphagiaHPOHP:0002015
- 5 of 7 reported patients
- Elevated circulating creatine kinase activityHPOHP:0003236
- 5 of 7 reported patients
- Weakness of facial musculatureHPOHP:0030319
- 5 of 7 reported patients
Show the remaining 12
- AtaxiaHPOHP:0001251
- 3 of 6 reported patients
- LeukoencephalopathyHPOHP:0002352
- 3 of 6 reported patients
- Distal amyotrophyHPOHP:0003693
- 3 of 7 reported patients
- Neck muscle weaknessHPOHP:0000467
- 3 of 7 reported patients
- Generalized amyotrophyHPOHP:0003700
- 2 of 7 reported patients
- Pigmentary retinopathyHPOHP:0000580
- 2 of 7 reported patients
Where it sits
- A kind of
Other names
1 name
Resolves to: oculopharyngodistal myopathy 3
- Also called
- OPDM3