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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:0001824 | Weight loss |
| HP:0002015 | Dysphagia |
| HP:0002058 | Myopathic facies |
| HP:0002086 | Abnormality of the respiratory system |
| HP:0002205 | Recurrent respiratory infections |
| HP:0002315 | Headache |
| HP:0002360 | Sleep abnormality |
| HP:0002421 | Poor head control |
| HP:0002650 | Scoliosis |
| HP:0002747 | Respiratory insufficiency due to muscle weakness |
