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GTR Home > Conditions/Phenotypes > Retinitis pigmentosa 20

Retinitis pigmentosa 20

Synonyms
RP 20

Summary

Any retinitis pigmentosa in which the cause of the disease is a mutation in the RPE65 gene. [from MONDO]

Available tests

50 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (50 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: BCO3, LCA2, RP20, mRPE65, p63, rd12, sRPE65, RPE65
    Summary: retinoid isomerohydrolase RPE65

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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