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autosomal recessive nonsyndromic hearing loss 6 (DFNB6) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

autosomal recessive nonsyndromic hearing loss 6

MONDO:0010965

Also known as:DFNB6TMIE autosomal recessive nonsyndromic deafnessautosomal recessive deafness 6

Overview

Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the TMIE gene.

GeneticsAutosomal recessive · TMIE (chr 3)

OnsetCONGENITAL

Clinical Presentation

Features include always present findings: Hearing loss (hearing impairment).

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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 6.

55 publications have been identified in PubMed for autosomal recessive nonsyndromic hearing loss 6. Research spans Case Report / Case Series (24%), Basic Science / Preclinical (24%), and Epidemiology / Natural History (20%).

Research Type	Count	% of Total
Patient case studies	13	24%
Laboratory research	13	24%
Disease patterns and progression	11	20%
Clinical study results	7	13%
New treatment approaches	6	11%
Testing and diagnosis research	4	7%
Research summaries	1	2%

Recent Publications

Balatková Z (2026). [PMID: 41884524](https://pubmed.ncbi.nlm.nih.gov/41884524/). *Otol Neurotol Open*. [Epidemiology / Natural History]
Hoang NC (2026). [PMID: 41955303](https://pubmed.ncbi.nlm.nih.gov/41955303/). *Hum Mol Genet*. [Basic Science / Preclinical]
Jiang L (2026). [PMID: 42020731](https://pubmed.ncbi.nlm.nih.gov/42020731/). *Nature*. [Gene Therapy / Novel Therapeutics]
Porowski M (2026). [PMID: 41761595](https://pubmed.ncbi.nlm.nih.gov/41761595/). *The American journal of case reports*. [Diagnostic / Biomarker]
Chan KH (2026). [PMID: 41623227](https://pubmed.ncbi.nlm.nih.gov/41623227/). *The Laryngoscope*. [Case Report / Case Series]
Wang A (2026). [PMID: 41776480](https://pubmed.ncbi.nlm.nih.gov/41776480/). *BMC Ophthalmol*. [Case Report / Case Series]
Ahmadkhani A (2026). [PMID: 41486137](https://pubmed.ncbi.nlm.nih.gov/41486137/). *Journal of medical case reports*. [Case Report / Case Series]
Gao AM (2025). [PMID: 40837343](https://pubmed.ncbi.nlm.nih.gov/40837343/). *World journal of diabetes*. [Case Report / Case Series]
Papageorgiou E (2025). [PMID: 40527387](https://pubmed.ncbi.nlm.nih.gov/40527387/). *Diabetes & metabolism*. [Case Report / Case Series]
Yan A (2025). [PMID: 40930722](https://pubmed.ncbi.nlm.nih.gov/40930722/). *Practical neurology*. [Case Report / Case Series]

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autosomal recessive nonsyndromic hearing loss 6

Overview

Clinical Presentation

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Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

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External Resources

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Questions for Your Care Team

Questions for Your Care Team

autosomal recessive nonsyndromic hearing loss 6

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team