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hearing loss, autosomal recessive 115 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

hearing loss, autosomal recessive 115

MONDO:0032762

Also known as:DFNB115deafness, autosomal recessive 115

Overview

GeneticsAutosomal recessive · SPNS2 (chr 17)

ResearchLimited published research (2 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

SPNS2 function has not been fully characterized.

Hearing loss, autosomal recessive 115 is associated with mutations in the SPNS2 gene on chromosome 17.

Diagnosis

Genetic testing for SPNS2 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 115.

2 publications have been identified in PubMed for hearing loss, autosomal recessive 115. Research spans Case Report / Case Series (50%) and Epidemiology / Natural History (50%).

Recent Publications

Samara P (2026). [PMID: 41594276](https://pubmed.ncbi.nlm.nih.gov/41594276/). *Diagnostics (Basel)*. [Case Report / Case Series]
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 19, 2026, 1:11 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:618457

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 115

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Related Diseases

Questions for Your Care Team

Questions for Your Care Team