Emery-Dreifuss muscular dystrophy 1, X-linked
MONDO:0100531Mondo
Findings
No curated finding names Emery-Dreifuss muscular dystrophy 1, X-linked yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Onset and course
- Slowly progressive
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.
- Absent P waveHPOHP:0033122
- 1 of 1 reported patient
- Achilles tendon contractureHPOHP:0001771
- 1 of 1 reported patient
- Elbow flexion contractureHPOHP:0002987
- 1 of 1 reported patient
- Elevated circulating creatine kinase activityHPOHP:0003236
- 1 of 1 reported patient
- First degree atrioventricular blockHPOHP:0011705
- 1 of 1 reported patient
- Knee flexion contractureHPOHP:0006380
- 1 of 1 reported patient
- Loss of ambulationHPOHP:0002505
- 1 of 1 reported patient
- PalpitationsHPOHP:0001962
- 1 of 1 reported patient
- Skeletal muscle atrophyHPOHP:0003202
- 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.
- EMDHGNC:3331
- Strong · PanelApp Australia · X-linked · 2025
Where it sits
Other names
2 names
Resolves to: Emery-Dreifuss muscular dystrophy 1, X-linked
- Also called
- EDMD1EMD1