Autosomal recessive nonsyndromic hearing loss 102

Synonyms: Deafness, autosomal recessive 102

Summary

Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the EPS8 gene. [from MONDO]

Available tests

9 tests are in the database for this condition.

Clinical tests (9 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

Associated genes Help
Genes reported to contribute to the condition.

EPS8
24 tests
Also known as: DFNB102, EPS8
Summary: EGFR pathway substrate 8, signaling adaptor

Imported from Human Phenotype Ontology (HPO)

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Ear malformation
- Profound hearing impairment
  Profound hearing impairment
  - MedGen UID: 868362
  - Concept ID: C4022756
  - Finding: Disease or Syndrome
  Ear malformation
  See: Feature record | Search on this feature

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Clinical resources

Molecular resources

Consumer resources

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