facioscapulohumeral muscular dystrophy 3, digenic
MONDO:0030354Mondo
Findings
No curated finding names facioscapulohumeral muscular dystrophy 3, digenic yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Digenic inheritance
- Onset and course
- Middle age onset
HPO, annotations 2026-09-02
Features
9 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.
- Angulated muscle fibersHPOHP:0034045
- 1 of 1 reported patient
- Aspiration pneumoniaHPOHP:0011951
- 1 of 1 reported patient
- Difficulty climbing stairsHPOHP:0003551
- 1 of 1 reported patient
- FatigueHPOHP:0012378
- 1 of 1 reported patient
- Neck muscle weaknessHPOHP:0000467
- 1 of 1 reported patient
- Proximal muscle weaknessHPOHP:0003701
- 1 of 1 reported patient
- Scapular wingingHPOHP:0003691
- 1 of 1 reported patient
- Shoulder girdle muscle weaknessHPOHP:0003547
- 1 of 1 reported patient
- Weakness of facial musculatureHPOHP:0030319
- 1 of 1 reported patient
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.
- LRIF1HGNC:30299
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2021
Where it sits
Other names
1 name
Resolves to: facioscapulohumeral muscular dystrophy 3, digenic
- Also called
- FSHD3