Kisho

Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy

autosomal recessive nonsyndromic hearing loss 45 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

autosomal recessive nonsyndromic hearing loss 45

MONDO:0012903

Also known as:DFNB45autosomal recessive deafness 45autosomal recessive nonsyndromic deafness 45

Overview

An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 1q43-q44.

GeneticsAutosomal recessive

ResearchLimited published research (4 articles)

Clinical Presentation

Features include always present findings: Prelingual sensorineural hearing impairment. 2 total HPO annotations.

Organ System	Phenotype Count	Example Features
Ears	2	Abnormal vestibular function, Prelingual sensorineural hearing impairment

Explore clinical features

Prognosis

Phenotype severity distribution: 1 always present feature.

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for autosomal recessive nonsyndromic hearing loss 45.

4 publications have been identified in PubMed for autosomal recessive nonsyndromic hearing loss 45. Research spans Epidemiology / Natural History (50%), Case Report / Case Series (25%), and Clinical Trial Publication (25%).

Recent Publications

Bernardinelli E (2025). [PMID: 40121402](https://pubmed.ncbi.nlm.nih.gov/40121402/). *Mol Med*. [Epidemiology / Natural History]
Yan D (2025). [PMID: 39182490](https://pubmed.ncbi.nlm.nih.gov/39182490/). *Audiol Neurootol*. [Epidemiology / Natural History]
Peer S (2024). [PMID: 38291196](https://pubmed.ncbi.nlm.nih.gov/38291196/). *Neurol Sci*. [Case Report / Case Series]
Lv J (2024). [PMID: 38280389](https://pubmed.ncbi.nlm.nih.gov/38280389/). *Lancet*. [Clinical Trial Publication]

Data assembled from 4 of 12 sources · Last updated Sep 18, 2026, 9:43 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:612433

GARD

Genetic and Rare Diseases Info Center

GARD:22628

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

← Back to All Diseases

autosomal recessive nonsyndromic hearing loss 45

Overview

Clinical Presentation

Explore clinical features

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team