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autosomal recessive nonsyndromic hearing loss 38 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

autosomal recessive nonsyndromic hearing loss 38

MONDO:0011991

Also known as:DFNB38autosomal recessive deafness 38autosomal recessive nonsyndromic deafness 38

Overview

An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 6q26-q27.

GeneticsAutosomal recessive

ResearchLimited published research (9 articles)

Clinical Presentation

Features include: Prelingual sensorineural hearing impairment.

Organ System	Phenotype Count	Example Features
Ears	1	Prelingual sensorineural hearing impairment

Explore clinical features

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 38.

9 publications have been identified in PubMed for autosomal recessive nonsyndromic hearing loss 38. Research spans Epidemiology / Natural History (33%), Case Report / Case Series (22%), and Clinical Trial Publication (22%).

Recent Publications

Abati E (2026). [PMID: 42089726](https://pubmed.ncbi.nlm.nih.gov/42089726/). *J Neuromuscul Dis*. [Review / Meta-Analysis]
Meisel M (2025). [PMID: 40491524](https://pubmed.ncbi.nlm.nih.gov/40491524/). *Am J Ophthalmol Case Rep*. [Case Report / Case Series]
Uwibambe E (2025). [PMID: 40149409](https://pubmed.ncbi.nlm.nih.gov/40149409/). *Genes (Basel)*. [Epidemiology / Natural History]
Birch DG (2025). [PMID: 40792671](https://pubmed.ncbi.nlm.nih.gov/40792671/). *Invest Ophthalmol Vis Sci*. [Clinical Trial Publication]
Leoncio JC (2025). [PMID: 40801940](https://pubmed.ncbi.nlm.nih.gov/40801940/). *Hum Genet*. [Basic Science / Preclinical]

Data assembled from 4 of 12 sources · Last updated Sep 19, 2026, 4:33 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:608219

GARD

Genetic and Rare Diseases Info Center

GARD:22606

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?

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autosomal recessive nonsyndromic hearing loss 38

Overview

Clinical Presentation

Explore clinical features

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team