oculopharyngeal muscular dystrophy 2
MONDO:0958195Mondo
Findings
No curated finding names oculopharyngeal muscular dystrophy 2 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 · Juvenile onset · Young adult onset · Childhood onset
HPO, annotations 2026-09-02
Features
15 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.
- Ankle contractureHPOHP:0034677
- 1 of 1 reported patient
- AstheniaHPOHP:0025406
- 7 of 7 reported patients
- Axial muscle weaknessHPOHP:0003327
- 3 of 3 reported patients
- DysphagiaHPOHP:0002015
- 9 of 9 reported patients
- DysphoniaHPOHP:0001618
- 5 of 5 reported patients
- Feeding difficultiesHPOHP:0011968
- 1 of 1 reported patient
- Limb muscle weaknessHPOHP:0003690
- 1 of 1 reported patient
- Loss of ambulationHPOHP:0002505
- 1 of 1 reported patient
- Motor delayHPOHP:0001270
- 1 of 1 reported patient
- Muscle weaknessHPOHP:0001324
- 1 of 1 reported patient
- OphthalmoplegiaHPOHP:0000602
- 11 of 11 reported patients
- Proximal lower limb muscle weaknessHPOHP:0008994
- 1 of 1 reported patient
Show the remaining 3
- Proximal muscle weaknessHPOHP:0003701
- 1 of 1 reported patient
- PtosisHPOHP:0000508
- 11 of 11 reported patients
- Respiratory insufficiencyHPOHP:0002093
- 9 of 9 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.
- HNRNPA2B1HGNC:5033
- Strong · G2P · Autosomal dominant · 2025
Where it sits
- A kind of