Autosomal recessive nonsyndromic hearing loss 68

Synonyms: Deafness, autosomal recessive 68

Summary

Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the S1PR2 gene. [from MONDO]

Available tests

9 tests are in the database for this condition.

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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.

S1PR2
Also known as: AGR16, DFNB68, EDG-5, EDG5, Gpcr13, H218, LPB2, S1P2, S1PR2
Summary: sphingosine-1-phosphate receptor 2

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

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