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
25 tests
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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