# autosomal dominant nonsyndromic deafness 2A

> autosomal dominant nonsyndromic deafness that is characterized by high frequency progressive hearing loss and has material basis in mutation in the KCNQ4 gene on chromosome 1p34.2

**Wikidata**: [Q28024686](https://www.wikidata.org/wiki/Q28024686)  
**Source**: https://4ort.xyz/entity/autosomal-dominant-nonsyndromic-deafness-2a


## References

1. Monarch Disease Ontology release 2018-06-29
2. Disease Ontology
3. UniProt
4. KCNQ4, a novel potassium channel expressed in sensory outer hair cells, is mutated in dominant deafness
5. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000117013/MONDO_0010817)
6. [Identifiers.org](https://registry.identifiers.org/registry/doid)