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GTR Home > Conditions/Phenotypes > Retinitis pigmentosa 12

Retinitis pigmentosa 12

Synonyms
RETINITIS PIGMENTOSA WITH OR WITHOUT PARAARTERIOLAR PRESERVATION OF RETINAL PIGMENT EPITHELIUM; RP 12; RP WITH OR WITHOUT PPRPE; RP WITH OR WITHOUT PRESERVED PARAARTERIOLE RETINAL PIGMENT EPITHELIUM

Summary

Any retinitis pigmentosa in which the cause of the disease is a mutation in the CRB1 gene. [from MONDO]

Available tests

47 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (47 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CRB1-A, CRB1-B, CRB1-C, LCA8, RP12, CRB1
    Summary: crumbs cell polarity complex component 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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