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Senior-Loken syndrome 4

Summary

Senior-Loken syndrome-4 (SLSN4) is an autosomal recessive disorder characterized by the association of the cystic renal disorder nephronophthisis with early-onset retinitis pigmentosa (Polak et al., 1983; Schuermann et al., 2002; Otto et al., 2002). For a general phenotypic description and a discussion of genetic heterogeneity of Senior-Loken syndrome, see 266900. [from OMIM]

Available tests

41 tests are in the database for this condition.

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Clinical tests (41 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: POC10, SLSN4, NPHP4
    Summary: nephrocystin 4

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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