X-linked Emery-Dreifuss muscular dystrophy
MONDO:0010680Mondo
Findings
No curated finding names X-linked Emery-Dreifuss muscular dystrophy yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
X-linked form of Emery-Dreifuss muscular dystrophy.
Definition from the Mondo Disease Ontology (MONDO:0010680), read 2026-09-29. CC BY 4.0.
Features
43 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.
- Diminished deep tendon reflexHPOHP:0001315
- Very frequent (80% to 99% of cases)
- Elevated circulating creatine kinase activityHPOHP:0003236
- Very frequent (80% to 99% of cases)
- Joint stiffnessHPOHP:0001387
- Very frequent (80% to 99% of cases)
- Limb-girdle muscular dystrophyHPOHP:0006785
- Very frequent (80% to 99% of cases)
- MyopathyHPOHP:0003198
- Very frequent (80% to 99% of cases)
- MyotoniaHPOHP:0002486
- Very frequent (80% to 99% of cases)
- Pectus excavatumHPOHP:0000767
- Very frequent (80% to 99% of cases)
- Absent muscle fiber emerinHPOHP:0030117
- Frequent (30% to 79% of cases)
- Back painHPOHP:0003418
- Frequent (30% to 79% of cases)
- Decreased cervical spine flexion due to contractures of posterior cervical musclesHPOHP:0004631
- Frequent (30% to 79% of cases)
- Elevated circulating LDL-C concentrationHPOHP:0003141
- Frequent (30% to 79% of cases)
- EMG: myopathic abnormalitiesHPOHP:0003458
- Frequent (30% to 79% of cases)
Reported absent (1)
- Intellectual disabilityHPOHP:0001249
Show the remaining 31
- Gait disturbanceHPOHP:0001288
- Frequent (30% to 79% of cases)
- HypertriglyceridemiaHPOHP:0002155
- Frequent (30% to 79% of cases)
- Hypertrophic cardiomyopathyHPOHP:0001639
- Frequent (30% to 79% of cases)
- Proximal lower limb amyotrophyHPOHP:0008956
- Frequent (30% to 79% of cases)
- Proximal lower limb muscle weaknessHPOHP:0008994
- Frequent (30% to 79% of cases)
- Proximal upper limb amyotrophyHPOHP:0008948
- Frequent (30% to 79% of cases)
Genes
2 genes
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.
Where it sits
Other names
2 names
Resolves to: X-linked Emery-Dreifuss muscular dystrophy
- Also called
- EmerinopathyEmery-Dreifuss muscular dystrophy, X-linked