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GTR Home > Conditions/Phenotypes > Hearing loss, autosomal dominant 80

Hearing loss, autosomal dominant 80

Synonyms
Deafness, autosomal dominant 80

Summary

DFNA80 is characterized by nonsyndromic congenital deafness associated with absent or malformed cochleae and eighth cranial nerves (Schrauwen et al., 2018; Schrauwen et al., 2020). [from OMIM]

Available tests

4 tests are in the database for this condition.

Clinical tests (4 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: C18orf6, DFNA80, KIAA1772, RHDA3, GREB1L
    Summary: GREB1 like retinoic acid receptor coactivator

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

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