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Senior-Loken syndrome 6

Summary

Senior-Loken syndrome-6 (SLSN6) is an autosomal recessive disorder characterized by the association of nephronophthisis resulting in end-stage renal disease in the second decade of life with retinal degeneration (Sayer et al., 2006). For a phenotypic description and a discussion of genetic heterogeneity of Senior-Loken syndrome, see 266900. [from OMIM]

Available tests

98 tests are in the database for this condition.

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Clinical tests (98 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: 3H11Ag, BBS14, CT87, JBTS5, LCA10, MKS4, NPHP6, POC3, SLSN6, rd16, CEP290
    Summary: centrosomal protein 290

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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