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Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the OTOGL gene.
Features include always present findings: Inner ear hearing loss (sensorineural hearing impairment); and sometimes findings: Vestibular hyporeflexia.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Ears | 2 | Inner ear hearing loss (sensorineural hearing impairment), Vestibular hyporeflexia |
Brain and nerves | 1 | Vestibular hyporeflexia |
OTOGL encodes otogelin like (2,353 aa). Highest expression in Heart Atrial Appendage (4.2 TPM) and Pituitary (1.6 TPM).
Autosomal recessive nonsyndromic hearing loss 84B is associated with mutations in the OTOGL gene on chromosome 12.
OTOGL is classified as a druggable target with score 0.0.
Genetic testing for OTOGL 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 84B.
1 publication has been identified in PubMed for autosomal recessive nonsyndromic hearing loss 84B. Research spans Epidemiology / Natural History (100%).
Maekawa K (2025). [PMID: 40004452](https://pubmed.ncbi.nlm.nih.gov/40004452/). *Genes (Basel)*. [Epidemiology / Natural History]
Data assembled from 5 of 12 sources · Last updated Sep 17, 2026, 9:58 PM UTC
Online Mendelian Inheritance in Man
Genetic and Rare Diseases Info Center