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congenital myasthenic syndrome 18
Summary
- Synonym
-
- CMS18
- Definition
- A congenital myasthenic syndrome characterized by autosomal dominant inheritance of presynaptic neuromuscular junction defects, early-onset muscle weakness, easy fatigability, delayed psychomotor development and ataxia that has_material_basis_in heterozygous mutation in the SNAP25 gene on chromosome 20p11.
- Super Class
- autosomal dominant disease congenital myasthenic syndrome
External Links
- Disease Ontology
- DOID:0110683
- Mondo Disease Ontology
- OMIM
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 |
