facioscapulohumeral muscular dystrophy 1
MONDO:0008030Mondo
Findings
No curated finding names facioscapulohumeral muscular dystrophy 1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Features
3 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.
- Inability to protrude lipsHPOHP:6001010
- Inability to puff cheeksHPOHP:6001102
- Transverse smileHPOHP:6000864
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.
- HGNC:50800HGNC:50800
- Limited · PanelApp Australia · Autosomal dominant · 2025
Where it sits
Other names
7 names
Resolves to: facioscapulohumeral muscular dystrophy 1
- Also called
- facioscapulohumeral muscular dystrophy 1Afacioscapulohumeral muscular dystrophy type 1FSHDFSHD1FSHD1ALandouzy-Dejerine muscular dystrophymuscular dystrophy, facioscapulohumeral, type 1A