# congenital myasthenic syndrome 4B

> human disease

**Wikidata**: [Q32140138](https://www.wikidata.org/wiki/Q32140138)  
**Source**: https://4ort.xyz/entity/congenital-myasthenic-syndrome-4b


## References

1. Disease Ontology
2. Monarch Disease Ontology release 2018-06-29
3. UniProt
4. Congenital myasthenic syndrome caused by decreased agonist binding affinity due to a mutation in the acetylcholine receptor epsilon subunit
5. [Identifiers.org](https://registry.identifiers.org/registry/doid)