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GTR Home > Conditions/Phenotypes > Bardet-Biedl syndrome 20

Bardet-Biedl syndrome 20

Summary

Bardet-Biedl syndrome-20 (BBS20), a rare autosomal recessive disorder associated with ciliary dysfunction, is characterized by rod-cone dystrophy, postaxial polydactyly, truncal obesity, renal anomalies, and learning disability, as well as hypogonadism in males and genital abnormalities in females (Saida et al., 2014). For a general phenotypic description and discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (209900). [from OMIM]

Available tests

10 tests are in the database for this condition.

Clinical tests (10 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: BBS20, NPHP17, RP71, SLB, SRTD10, osm-1, wim, IFT172
    Summary: intraflagellar transport 172

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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