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GTR Home > Conditions/Phenotypes > Autosomal recessive nonsyndromic hearing loss 12

Autosomal recessive nonsyndromic hearing loss 12

Synonyms
DFNB12 Nonsyndromic Hearing Loss and Deafness; Deafness, autosomal recessive 12

Summary

An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has material basis in mutation in the CDH23 gene on chromosome 10q22. [from MONDO]

Available tests

50 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (50 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: DFNA82, PMCA2, PMCA2a, PMCA2i, ATP2B2
    Summary: ATPase plasma membrane Ca2+ transporting 2

  • Also known as: CDHR23, PITA5, USH1D, CDH23
    Summary: cadherin related 23

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

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