Hearing loss, autosomal dominant 83

Synonyms: Deafness, autosomal dominant 83

Summary

Autosomal dominant deafness-83 (DFNA83) is characterized by the onset of progressive sensorineural hearing loss at an average age of 24 years. A notable finding is a normal distortion product otoacoustic emissions (DPOAE) test, implicating dysfunction of spiral ganglia neurons rather than outer hair cells as a disease mechanism (Cui et al., 2020). [from OMIM]

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Associated genes Help
Genes reported to contribute to the condition.

MAP1B
4 tests
Also known as: DFNA83, FUTSCH, MAP5, PPP1R102, PVNH9, MAP1B
Summary: microtubule associated protein 1B

Imported from Human Phenotype Ontology (HPO)

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Ear malformation
- Bilateral sensorineural hearing impairment
  Bilateral sensorineural hearing impairment
  - MedGen UID: 96788
  - Concept ID: C0452138
  - Finding: Disease or Syndrome
  Ear malformation
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