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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:0001611 | Hypernasal speech |
| HP:0002882 | Sudden episodic apnea |
| HP:0001265 | Hyporeflexia |
| HP:0002355 | Difficulty walking |
| HP:0001249 | Intellectual disability |
| HP:0002751 | Kyphoscoliosis |
| HP:0001374 | Congenital hip dislocation |
| HP:0003388 | Easy fatigability |
| HP:0002015 | Dysphagia |
| HP:0000768 | Pectus carinatum |
