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GTR Home > Conditions/Phenotypes > Hearing loss, autosomal dominant 87

Hearing loss, autosomal dominant 87

Synonyms
Deafness, autosomal dominant 87

Summary

Autosomal dominant deafness-87 (DFNA87) is characterized by nonsyndromic prelingual profound sensorineural hearing loss with inner ear anomalies, including cochlear maldevelopment, absence of the osseous spiral lamina, and/or an enlarged vestibular aqueduct (Su et al., 2020). [from OMIM]

Available tests

1 test is in the database for this condition.

Clinical tests (1 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: DFNA87, NPIK, PI4K-BETA, PI4K92, PI4KBETA, PI4KIII, PI4KIIIBETA, PIK4CB, PI4KB
    Summary: phosphatidylinositol 4-kinase beta

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

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