MEGF10-related myopathy
Findings
No curated finding names MEGF10-related myopathy yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A congenital myopathy caused by mutations in the multiple epidermal growth factor-like domains 10 (MEGF10) gene, which causes early-onset myopathy characterized by severe weakness, scoliosis, joint contractures, areflexia, respiratory distress, and dysphagia, and a milder phenotype of minicore myopathy.
Definition from the Mondo Disease Ontology (MONDO:0013731), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset · Fetal onset
HPO, annotations 2026-09-02
Features
22 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.
- DysphagiaHPOHP:0002015
- 10 of 10 reported patients
- HypotoniaHPOHP:0001252
- 10 of 10 reported patients
- Poor head controlHPOHP:0002421
- 6 of 6 reported patients
- Respiratory distressHPOHP:0002098
- 10 of 10 reported patients
- ScoliosisHPOHP:0002650
- 8 of 9 reported patients
- EMG: myopathic abnormalitiesHPOHP:0003458
- 6 of 7 reported patients
- Increased variability in muscle fiber diameterHPOHP:0003557
Show the remaining 10
- High palateHPOHP:0000218
- 3 of 7 reported patients
- Gastroesophageal refluxHPOHP:0002020
- 3 of 10 reported patients
- SeizureHPOHP:0001250
- 2 of 10 reported patients
- Cleft palateHPOHP:0000175
- 1 of 7 reported patients
- Muscle fiber necrosisHPOHP:0003713
- 1 of 7 reported patients
- Tongue fasciculationsHPOHP:0001308
- 1 of 8 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.
- MEGF10HGNC:29634
- Definitive · ClinGen · Autosomal recessive · 2020
- Definitive · G2P · Autosomal recessive · 2015
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
2 names
Resolves to: MEGF10-related myopathy
- Also called
- congenital myopathy 10A, severe variantMEGF10 myopathy