Hearing loss, autosomal recessive 115

Synonyms: Deafness, autosomal recessive 115

Summary

DFNB115 is characterized by severe sensorineural hearing impairment in early childhood (Ingham et al., 2019). [from OMIM]

Available tests

3 tests are in the database for this condition.

Clinical tests (3 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

Associated genes Help
Genes reported to contribute to the condition.

SPNS2
6 tests
Also known as: DFNB115, SLC62A2, SLC63A2, SPNS2
Summary: SPNS lysolipid transporter 2, sphingosine-1-phosphate

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

Reviews

Clinical resources

Molecular resources

Consumer resources

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