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GTR Home > Conditions/Phenotypes > Bardet-Biedl syndrome 22

Bardet-Biedl syndrome 22

Summary

Bardet-Biedl syndrome-22 (BBS22) is an autosomal recessive ciliopathy described in a single patient and characterized by retinitis pigmentosa, obesity, polydactyly, hypogonadism, and intellectual disability (Lindstrand et al., 2016). For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (209900). [from OMIM]

Available tests

11 tests are in the database for this condition.

Clinical tests (11 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: BBS22, CCDC2, CMG-1, CMG1, JBTS40, SPGF58, IFT74
    Summary: intraflagellar transport 74

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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