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Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the SYNE4 gene.
Features include always present findings: Progressive sensorineural hearing impairment.
Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 3:09 PM UTC
Online Mendelian Inheritance in Man
Genetic and Rare Diseases Info Center
Phenotype Count |
|---|
Example Features |
|---|
Ears | 1 | Progressive sensorineural hearing impairment |
SYNE4 function has not been fully characterized.
Autosomal recessive nonsyndromic hearing loss 76 is associated with mutations in the SYNE4 gene on chromosome 19.
Genetic testing for SYNE4 is available. Testing is considered confirmatory for diagnosis.
Phenotype severity distribution: 1 always present feature.
No clinical trials have been registered for autosomal recessive nonsyndromic hearing loss 76.
4 publications have been identified in PubMed for autosomal recessive nonsyndromic hearing loss 76. Research spans Review / Meta-Analysis (50%) and Epidemiology / Natural History (50%).
AlQudairy H (2025). [PMID: 40781329](https://pubmed.ncbi.nlm.nih.gov/40781329/). *Orphanet journal of rare diseases*. [Epidemiology / Natural History]
Wu F (2025). [PMID: 40538303](https://pubmed.ncbi.nlm.nih.gov/40538303/). *Advanced science (Weinheim, Baden-Wurttemberg, Germany)*. [Review / Meta-Analysis]
Uwibambe E (2025). [PMID: 40149409](https://pubmed.ncbi.nlm.nih.gov/40149409/). *Genes*. [Epidemiology / Natural History]
Fazeli-Jezei R (2025). [PMID: 40122168](https://pubmed.ncbi.nlm.nih.gov/40122168/). *Acta otorrinolaringologica espanola*. [Review / Meta-Analysis]