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GTR Home > Conditions/Phenotypes > Bardet-Biedl syndrome 17

Bardet-Biedl syndrome 17

Summary

Bardet-Biedl syndrome-17 (BBS17) is an autosomal recessive ciliopathy characterized by retinitis pigmentosa, cognitive impairment, obesity, renal dysfunction, and hypogenitalism. Polydactyly, most often postaxial, is also a primary feature of BBS; in BBS17, mesoaxial polydactyly, with fused or Y-shaped metacarpals, is a distinct manifestation (Deffert et al., 2007; Schaefer 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

36 tests are in the database for this condition.

Clinical tests (36 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: BBS17, LZTFL1
    Summary: leucine zipper transcription factor like 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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