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GTR Home > Conditions/Phenotypes > Bardet-Biedl syndrome 2

Bardet-Biedl syndrome 2

Summary

BBS2 is an autosomal recessive ciliopathy characterized by retinal degeneration, polydactyly, renal disease, hypogonadism, obesity, dysmorphic features, and variable degrees of cognitive impairment (Innes et al., 2010). Mutation in the BBS2 gene is the third most frequent cause of BBS, accounting for approximately 8% of cases (Zaghloul and Katsanis, 2009). For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (209900). [from OMIM]

Available tests

77 tests are in the database for this condition.

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Clinical tests (77 available)

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  • Also known as: BBS, RP74, BBS2
    Summary: Bardet-Biedl syndrome 2

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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