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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:0002421 | Poor head control |
| HP:0001283 | Bulbar palsy |
| HP:0003324 | Generalized muscle weakness |
| HP:0001618 | Dysphonia |
| HP:0003473 | Fatigable weakness |
| HP:0001558 | Decreased fetal movement |
| HP:0002870 | Obstructive sleep apnea |
| HP:0001251 | Ataxia |
| HP:0002033 | Poor suck |
| HP:0000651 | Diplopia |
