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GTR Home > Conditions/Phenotypes > Bardet-Biedl syndrome 18

Bardet-Biedl syndrome 18

Summary

BBS18 is an autosomal recessive ciliopathy characterized by retinitis pigmentosa, obesity, kidney failure, and cognitive disability (Scheidecker et al., 2014). For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (209900). [from OMIM]

Available tests

24 tests are in the database for this condition.

Clinical tests (24 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: BBIP10, BBS18, NCRNA00081, bA348N5.3, BBIP1
    Summary: BBSome interacting protein 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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