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congenital myopathy 4A
Summary
- Synonym
-
- CFTD
- congenital fiber-type disproportion
- Definition
- A congenital myopathy that is characterized by skeletal muscle weakness, particularly in the muscles of the shoulders, upper arms, hips, and thighs.
- Super Class
- autosomal dominant disease congenital myopathy physical disorder
External Links
- Disease Ontology
- DOID:0080102
- Mondo Disease Ontology
- OMIM
Related Genes
Related Glycoprotein
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002751 | Kyphoscoliosis |
| HP:0002878 | Respiratory failure |
| HP:0002987 | Elbow flexion contracture |
| HP:0003273 | Hip contracture |
| HP:0003307 | Hyperlordosis |
| HP:0003323 | Progressive muscle weakness |
| HP:0003324 | Generalized muscle weakness |
| HP:0003388 | Easy fatigability |
| HP:0003547 | Shoulder girdle muscle weakness |
| HP:0003749 | Pelvic girdle muscle weakness |
