Hearing loss, autosomal recessive 117

Synonyms: Deafness, autosomal recessive 117

Summary

Autosomal recessive deafness-117 (DFNB117) is characterized by nonsyndromic bilateral moderate-to-profound sensorineural deafness, with onset in early childhood (Vona et al., 2021). [from OMIM]

Available tests

2 tests are in the database for this condition.

Clinical tests (2 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

Associated genes Help
Genes reported to contribute to the condition.

CLRN2
3 tests
Also known as: DFNB117, CLRN2
Summary: clarin 2

Imported from Human Phenotype Ontology (HPO)

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Ear malformation
- Abnormal vestibular function
  Abnormal vestibular function
  - MedGen UID: 334848
  - Concept ID: C1843865
  - Finding: Finding
  Ear malformation
  See: Feature record | Search on this feature
- 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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Clinical resources

Molecular resources

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