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Senior-Loken syndrome 9

Summary

Senior-Loken syndrome-9 is an autosomal recessive disorder characterized by early-onset nephronophthisis and pigmentary retinopathy. Additional more variable features can include liver defects, skeletal anomalies, and obesity (summary by Bizet et al., 2015). For a phenotypic description and a discussion of genetic heterogeneity of Senior-Loken syndrome, see 266900. [from OMIM]

Available tests

23 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (23 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CFAP116, FAP116, IFT54, MIP-T3, MIPT3, SLSN9, TRAF3IP1
    Summary: TRAF3 interacting protein 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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