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congenital myasthenic syndrome 19
Summary
- Synonym
-
- CMS19
- Definition
- A congenital myasthenic syndrome characterized by autosomal recessive inheritance of defects in the neuromuscular junction resulting in generalized muscle weakness, exercise intolerance, and respiratory insufficiency that has_material_basis_in homozygous mutation in the COL13A1 gene on chromosome 10q22.
- Super Class
- autosomal recessive disease congenital myasthenic syndrome
External Links
- Disease Ontology
- DOID:0110673
- Mondo Disease Ontology
- OMIM
- MGI genotype (from TogoID)
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000496 | Abnormality of eye movement |
| HP:0002091 | Restrictive ventilatory defect |
| HP:0002792 | Reduced vital capacity |
| HP:0003202 | Skeletal muscle atrophy |
| HP:0001446 | Abnormality of the musculature of the upper limbs |
| HP:0003443 | Decreased size of nerve terminals |
| HP:0002650 | Scoliosis |
| HP:0003484 | Upper limb muscle weakness |
| HP:0001315 | Reduced tendon reflexes |
| HP:0002875 | Exertional dyspnea |
