# hyperekplexia 1

> hyperekplexia that has material basis in heterozygous, homozygous, or compound heterozygous mutation in the GLRA1 gene on chromosome 5q32

**Wikidata**: [Q28024514](https://www.wikidata.org/wiki/Q28024514)  
**Source**: https://4ort.xyz/entity/hyperekplexia-1


## References

1. Disease Ontology
2. Human Phenotype Ontology release 2018-03-08
3. [Identifiers.org](https://registry.identifiers.org/registry/doid)