# congenital myasthenic syndrome 16

> congenital myasthenic syndrome that has material basis in heterozygous or homozygous mutation in the SCN4A gene on chromosome 17q23

**Wikidata**: [Q32140200](https://www.wikidata.org/wiki/Q32140200)  
**Source**: https://4ort.xyz/entity/congenital-myasthenic-syndrome-16


## References

1. Disease Ontology
2. Monarch Disease Ontology release 2018-06-29
3. UniProt
4. Myasthenic syndrome caused by mutation of the SCN4A sodium channel
5. [Identifiers.org](https://registry.identifiers.org/registry/doid)