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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:0004885 | Episodic respiratory distress |
| HP:0011469 | Nasal regurgitation |
| HP:0003701 | Proximal muscle weakness |
| HP:0010307 | Stridor |
| HP:0012801 | Narrow jaw |
| HP:0005943 | Respiratory arrest |
| HP:0003693 | Distal amyotrophy |
| HP:0009053 | Distal lower limb muscle weakness |
| HP:0011968 | Feeding difficulties |
| HP:0004889 | Intermittent episodes of respiratory insufficiency due to muscle weakness |
