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hearing loss, autosomal recessive 99 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

hearing loss, autosomal recessive 99

MONDO:0032776

Also known as:DFNB99deafness, autosomal recessive 99

Overview

GeneticsAutosomal recessive · TMEM132E (chr 17)

ResearchLimited published research (5 articles)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Abnormal vestibular function and Inner ear hearing loss (sensorineural hearing impairment).

Organ System	Phenotype Count	Example Features
Ears	2	Abnormal vestibular function, Inner ear hearing loss (sensorineural hearing impairment)

Explore clinical features

Genetic Landscape

TMEM132E function has not been fully characterized.

Hearing loss, autosomal recessive 99 is associated with mutations in the TMEM132E gene on chromosome 17.

Diagnosis

Genetic testing for TMEM132E is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for hearing loss, autosomal recessive 99 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 2 always present 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 hearing loss, autosomal recessive 99.

5 publications have been identified in PubMed for hearing loss, autosomal recessive 99. Research spans Diagnostic / Biomarker (20%), Review / Meta-Analysis (20%), and Clinical Trial Publication (20%).

Recent Publications

Wu L (2026). [PMID: 41895920](https://pubmed.ncbi.nlm.nih.gov/41895920/). *J Mol Diagn*. [Clinical Trial Publication]
Zhou J (2026). [PMID: 41700296](https://pubmed.ncbi.nlm.nih.gov/41700296/). *Front Genet*. [Review / Meta-Analysis]
Cromar ZJ (2025). [PMID: 40533831](https://pubmed.ncbi.nlm.nih.gov/40533831/). *Hum Genomics*. [Diagnostic / Biomarker]
Gombojav B (2024). [PMID: 39336818](https://pubmed.ncbi.nlm.nih.gov/39336818/). *Genes (Basel)*. [Basic Science / Preclinical]
Antunes LN (2024). [PMID: 39498320](https://pubmed.ncbi.nlm.nih.gov/39498320/). *Front Genet*. [Epidemiology / Natural History]

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 5:00 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:618481

GARD

Genetic and Rare Diseases Info Center

GARD:22663

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 99

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