# congenital myasthenic syndrome 18

> human disease

**Wikidata**: [Q32140212](https://www.wikidata.org/wiki/Q32140212)  
**Source**: https://4ort.xyz/entity/congenital-myasthenic-syndrome-18


## References

1. Disease Ontology
2. Monarch Disease Ontology release 2018-06-29
3. UniProt
4. Mutant SNAP25B causes myasthenia, cortical hyperexcitability, ataxia, and intellectual disability
5. [Identifiers.org](https://registry.identifiers.org/registry/doid)