congenital myasthenic syndrome 18
Information
- Disease name
- congenital myasthenic syndrome 18
- Disease ID
- DOID:0110683
- Description
- "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." [url:https\://www.ncbi.nlm.nih.gov/pubmed/25381298]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
- Disase is a (Disease Ontology)
- DOID:3635
- Cross Reference ID (Disease Ontology)
- MIM:616330
- Exact Synonym (Disease Ontology)
- CMS18