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congenital myasthenic syndrome 17
Summary
- Synonym
-
- CMS17
- Definition
- A congenital myasthenic syndrome that has_material_basis_in compound heterozygous mutation in the LRP4 gene on chromosome 11p11.
- Super Class
- autosomal recessive disease congenital myasthenic syndrome
External Links
- Disease Ontology
- DOID:0110674
- Mondo Disease Ontology
- OMIM
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002878 | Respiratory failure |
| HP:0001324 | Muscle weakness |
| HP:0003547 | Shoulder girdle muscle weakness |
| HP:0000597 | Ophthalmoparesis |
| HP:0003403 | EMG: decremental response of compound muscle action potential to repetitive nerve stimulation |
| HP:0002329 | Drowsiness |
| HP:0000496 | Abnormality of eye movement |
| HP:0003388 | Easy fatigability |
| HP:0002091 | Restrictive ventilatory defect |
| HP:0003458 | EMG: myopathic abnormalities |
