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hearing loss, autosomal recessive 122 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

hearing loss, autosomal recessive 122

MONDO:0958228

Also known as:deafness, autosomal recessive 122

Overview

GeneticsAutosomal recessive · TMTC4 (chr 13)

ResearchLimited published research (3 articles)

Clinical Presentation

Features include always present findings: Inner ear hearing loss (sensorineural hearing impairment).

Organ System	Phenotype Count	Example Features
Ears	1	Inner ear hearing loss (sensorineural hearing impairment)

Explore clinical features

Genetic Landscape

TMTC4 function has not been fully characterized.

Hearing loss, autosomal recessive 122 is associated with mutations in the TMTC4 gene on chromosome 13.

Diagnosis

Genetic testing for TMTC4 is available. Testing is considered confirmatory for diagnosis.

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 hearing loss, autosomal recessive 122.

3 publications have been identified in PubMed for hearing loss, autosomal recessive 122. Research spans Epidemiology / Natural History (67%) and Review / Meta-Analysis (33%).

Recent Publications

Elbagoury NM (2025). [PMID: 40858759](https://pubmed.ncbi.nlm.nih.gov/40858759/). *Eur J Pediatr*. [Review / Meta-Analysis]
Riahi Z (2025). [PMID: 41359850](https://pubmed.ncbi.nlm.nih.gov/41359850/). *Proc Natl Acad Sci U S A*. [Epidemiology / Natural History]
Uwibambe E (2025). [PMID: 40149409](https://pubmed.ncbi.nlm.nih.gov/40149409/). *Genes (Basel)*. [Epidemiology / Natural History]

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 1:47 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:620714

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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hearing loss, autosomal recessive 122

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

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Questions for Your Care Team

Questions for Your Care Team