Autosomal dominant nonsyndromic hearing loss 3A

Synonyms: Deafness, autosomal dominant 3a; GJB2-Related DFNA 3 Nonsyndromic Hearing Loss and Deafness

Summary

Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the GJB2 gene. [from MONDO]

Available tests

66 tests are in the database for this condition.

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Clinical tests (66 available)

Molecular Genetics Tests

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Associated genes Help
Genes reported to contribute to the condition.

GJB2
211 tests
Also known as: BAPS, CX26, DFNA3, DFNA3A, DFNB1, DFNB1A, HID, KID, NSRD1, PPK, GJB2
Summary: gap junction protein beta 2

Imported from Human Phenotype Ontology (HPO)

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Ear malformation
- Sensorineural hearing loss disorder
  Sensorineural hearing loss disorder
  - MedGen UID: 9164
  - Concept ID: C0018784
  - Finding: Disease or Syndrome
  Ear malformation
  See: Feature record | Search on this feature

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