Autosomal dominant nonsyndromic hearing loss 51

Synonyms: CHROMOSOME 9q21.11 DUPLICATION SYNDROME; Deafness, autosomal dominant 51

Summary

An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset in the fourth decade of life with high frequency progressive hearing loss and has material basis in a 269-kb duplication of chromosome 9q21.11 involving the TJP2 and FAM189A2 genes. [from MONDO]

Available tests

5 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (5 available)

Molecular Genetics Tests

C Clinical test, R Research test, O OMIM, G GeneReviews

Imported from Human Phenotype Ontology (HPO)

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Ear malformation
- Hearing impairment
  Hearing impairment
  - MedGen UID: 235586
  - Concept ID: C1384666
  - Finding: Disease or Syndrome
  Ear malformation
  See: Feature record | Search on this feature

Reviews

Clinical resources

Molecular resources

Coriell Institute for Medical Research

Consumer resources

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