# congenital myasthenic syndrome 6

> Congenital myasthenic syndrome caused by mutation(s) in the CHAT gene, encoding choline O-acetyltransferase. It is inherited in an autosomal recessive manner.

**Wikidata**: [Q32140059](https://www.wikidata.org/wiki/Q32140059)  
**Source**: https://4ort.xyz/entity/congenital-myasthenic-syndrome-6


## References

1. Disease Ontology
2. Monarch Disease Ontology release 2018-06-29
3. UniProt
4. Choline acetyltransferase mutations cause myasthenic syndrome associated with episodic apnea in humans
5. [Identifiers.org](https://registry.identifiers.org/registry/doid)