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Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the WHRN gene.
Features include always present findings: Inner ear hearing loss (sensorineural hearing impairment). 2 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Ears | 2 | Inner ear hearing loss (sensorineural hearing impairment), Absent vestibular function |
Age of onset: at birth.
WHRN function has not been fully characterized.
Autosomal recessive nonsyndromic hearing loss 31 is associated with mutations in the WHRN gene on chromosome 9.
Genetic testing for WHRN is available. Testing is considered confirmatory for diagnosis.
Biomarker and diagnostic research for autosomal recessive nonsyndromic hearing loss 31 has been reported in the published literature.
Phenotype severity distribution: 1 always present feature.
No clinical trials have been registered for autosomal recessive nonsyndromic hearing loss 31.
15 publications have been identified in PubMed for autosomal recessive nonsyndromic hearing loss 31. Research spans Case Report / Case Series (33%), Basic Science / Preclinical (20%), and Review / Meta-Analysis (13%).
Research Type | Count | % of Total |
|---|---|---|
Patient case studies | 5 | 33% |
Laboratory research | 3 | 20% |
Research summaries | 2 | 13% |
Disease patterns and progression | 2 | 13% |
Other research | 1 | 7% |
Testing and diagnosis research | 1 | 7% |
Clinical study results | 1 | 7% |
Wang A (2026). [PMID: 41776480](https://pubmed.ncbi.nlm.nih.gov/41776480/). *BMC Ophthalmol*. [Case Report / Case Series]
Long X (2025). [PMID: 40410890](https://pubmed.ncbi.nlm.nih.gov/40410890/). *Hum Genomics*. [Basic Science / Preclinical]
Qi J (2025). [PMID: 40603731](https://pubmed.ncbi.nlm.nih.gov/40603731/). *Nat Med*. [Clinical Trial Publication]
Marucci A (2025). [PMID: 40603556](https://pubmed.ncbi.nlm.nih.gov/40603556/). *Diabetologia*. [Basic Science / Preclinical]
Levergood NR (2025). [PMID: 41411089](https://pubmed.ncbi.nlm.nih.gov/41411089/). *J Neuroophthalmol*. [Case Report / Case Series]
Cromar ZJ (2025). [PMID: 40533831](https://pubmed.ncbi.nlm.nih.gov/40533831/). *Hum Genomics*. [Diagnostic / Biomarker]
Liao B (2025). [PMID: 39777619](https://pubmed.ncbi.nlm.nih.gov/39777619/). *Genes Genomics*. [Basic Science / Preclinical]
Al-Bustanji R (2025). [PMID: 41305774](https://pubmed.ncbi.nlm.nih.gov/41305774/). *Medicine (Baltimore)*. [Case Report / Case Series]
Webb BD (2025). [PMID: 40662098](https://pubmed.ncbi.nlm.nih.gov/40662098/). *Genet Med Open*. [Review / Meta-Analysis]
Niehues T (2024). [PMID: 39381601](https://pubmed.ncbi.nlm.nih.gov/39381601/). *Allergol Select*. [Other]
Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 11:23 AM UTC
Online Mendelian Inheritance in Man
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