oculopharyngodistal myopathy 4
MONDO:0030712Mondo
Findings
No curated finding names oculopharyngodistal myopathy 4 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
- Young adult onset
HPO, annotations 2026-09-02
Features
19 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.
- AreflexiaHPOHP:0001284
- 2 of 2 reported patients
- Distal muscle weaknessHPOHP:0002460
- 10 of 10 reported patients
- EMG: myopathic abnormalitiesHPOHP:0003458
- 10 of 10 reported patients
- Postural tremorHPOHP:0002174
- 2 of 2 reported patients
- PtosisHPOHP:0000508
- 10 of 10 reported patients
- Rimmed vacuolesHPOHP:0003805
- 10 of 10 reported patients
- DysarthriaHPOHP:0001260
- 9 of 10 reported patients
- Weakness of facial musculatureHPOHP:0030319
- 9 of 10 reported patients
- DysphagiaHPOHP:0002015
- 8 of 10 reported patients
- External ophthalmoplegiaHPOHP:0000544
- 8 of 10 reported patients
- Autophagic vacuolesHPOHP:0003736
- 1 of 2 reported patients
- DiplopiaHPOHP:0000651
- 1 of 2 reported patients
Show the remaining 7
- Elevated circulating creatine kinase activityHPOHP:0003236
- 1 of 2 reported patients
- Fatty replacement of skeletal muscleHPOHP:0012548
- 1 of 2 reported patients
- High palateHPOHP:0000218
- 1 of 2 reported patients
- Hypernasal speechHPOHP:0001611
- 1 of 2 reported patients
- Increased variability in muscle fiber diameterHPOHP:0003557
- 1 of 2 reported patients
- Poor speechHPOHP:0002465
- 1 of 2 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.
- RILPL1HGNC:26814
- Limited · Ambry Genetics · Autosomal dominant · 2023
Where it sits
- A kind of
Other names
1 name
Resolves to: oculopharyngodistal myopathy 4
- Also called
- OPDM4