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GTR Home > Conditions/Phenotypes > Hearing loss, autosomal recessive 109

Hearing loss, autosomal recessive 109

Synonyms
Deafness, autosomal recessive 109

Summary

DFNB109 is characterized by bilateral congenital severe to profound sensorineural hearing loss. In addition, affected individuals exhibit vestibular dysplasia on CT scan, although they do not manifest problems with balance or movement (Rohacek et al., 2017). [from OMIM]

Available tests

3 tests are in the database for this condition.

Clinical tests (3 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: DFNB109, RBM35A, RMB35A, ESRP1
    Summary: epithelial splicing regulatory protein 1

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

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