# congenital myasthenic syndrome 21

> congenital myasthenic syndrome characterized by autosomal recessive inheritance of hypotonia, apneas, and feeding difficulties that has material basis in homozygous or compound heterozygous mutation in the SLC18A3 gene on chromosome 10q11

**Wikidata**: [Q32140070](https://www.wikidata.org/wiki/Q32140070)  
**Source**: https://4ort.xyz/entity/congenital-myasthenic-syndrome-21


## References

1. Disease Ontology
2. UniProt
3. Variants in SLC18A3, vesicular acetylcholine transporter, cause congenital myasthenic syndrome.
4. [Identifiers.org](https://registry.identifiers.org/registry/doid)
5. Monarch Disease Ontology release 2018-06-29