# hyperekplexia 2

> hyperekplexia that has material basis in compound heterozygous or homozygous mutation in the GLRB gene on chromosome 4q32

**Wikidata**: [Q28024515](https://www.wikidata.org/wiki/Q28024515)  
**Source**: https://4ort.xyz/entity/hyperekplexia-2


## References

1. Disease Ontology
2. Monarch Disease Ontology release 2018-06-29
3. UniProt
4. Hyperekplexia associated with compound heterozygote mutations in the beta-subunit of the human inhibitory glycine receptor (GLRB)
5. [Identifiers.org](https://registry.identifiers.org/registry/doid)