Kisho

Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy

autosomal recessive nonsyndromic hearing loss 104 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

autosomal recessive nonsyndromic hearing loss 104

MONDO:0014675

Also known as:DFNB104RIPOR2 autosomal recessive nonsyndromic deafnessautosomal recessive deafness 104

Overview

Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the RIPOR2 gene.

GeneticsAutosomal recessive · RIPOR2 (chr 6)

OnsetCONGENITAL

ResearchLimited published research (3 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: Absent brainstem auditory responses and Prelingual sensorineural hearing impairment. 6 total HPO annotations.

Organ System	Phenotype Count	Example Features
Ears	2	Abnormal vestibular function, Prelingual sensorineural hearing impairment

Genetic Landscape

RIPOR2 function has not been fully characterized.

Autosomal recessive nonsyndromic hearing loss 104 is associated with mutations in the RIPOR2 gene on chromosome 6.

Diagnosis

Drawn from GeneReviews diagnostic guidelines, newborn screening panel status (RUSP), and ClinGen gene-disease validity classifications. Reflects current clinical evidence and consensus where available.

Genetic testing for RIPOR2 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for autosomal recessive nonsyndromic hearing loss 104 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 autosomal recessive nonsyndromic hearing loss 104.

3 publications have been identified in PubMed for autosomal recessive nonsyndromic hearing loss 104. Research spans Diagnostic / Biomarker (33%), Case Report / Case Series (33%), and Epidemiology / Natural History (33%).

Recent Publications

Al-Bustanji R (2025). [PMID: 41305774](https://pubmed.ncbi.nlm.nih.gov/41305774/). *Medicine (Baltimore)*. [Case Report / Case Series]
Yan D (2025). [PMID: 39182490](https://pubmed.ncbi.nlm.nih.gov/39182490/). *Audiol Neurootol*. [Epidemiology / Natural History]
Hou W (2024). [PMID: 38977330](https://pubmed.ncbi.nlm.nih.gov/38977330/). *Nan Fang Yi Ke Da Xue Xue Bao*. [Diagnostic / Biomarker]

Data assembled from 5 of 12 sources · Last updated Sep 18, 2026, 9:44 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:616515

GARD

Genetic and Rare Diseases Info Center

GARD:22654

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?

← Back to All Diseases

autosomal recessive nonsyndromic hearing loss 104

Overview

Clinical Presentation

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

Explore clinical features