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GTR Home > Conditions/Phenotypes > Retinitis pigmentosa 89

Retinitis pigmentosa 89

Summary

Retinitis pigmentosa-89 (RP89) is characterized by classic features of RP as well as features of ciliopathy, including postaxial polydactyly and renal and hepatic disease. Onset of symptoms is within the first decade of life (Cogne et al., 2020). For a general phenotypic description and discussion of genetic heterogeneity of RP, see 268000. [from OMIM]

Available tests

2 tests are in the database for this condition.

Clinical tests (2 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: FLA8, HH0048, KLP-11, OTSC12, RP89, KIF3B
    Summary: kinesin family member 3B

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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