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GTR Home > Conditions/Phenotypes > Bardet-Biedl syndrome 13

Bardet-Biedl syndrome 13

Summary

BBS13 is an autosomal recessive ciliopathy with features of obesity, polydactyly, and retinitis pigmentosa (Leitch et al., 2008; Xing 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

73 tests are in the database for this condition.

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Clinical tests (73 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: BBS13, JBTS28, MES, MKS, POC12, MKS1
    Summary: MKS transition zone complex subunit 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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