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GTR Home > Conditions/Phenotypes > Bardet-Biedl syndrome 4

Bardet-Biedl syndrome 4

Summary

BBS4 is a rare multisystemic disorder characterized primarily by retinal dystrophy, obesity, polydactyly, and renal dysfunction that accounts for less than 3% of BBS (Katsanis et al., 2002). Anosmia has been described in patients with BBS4 (Iannaccone et al., 2005), as well as polydactyly confined to the hands (Carmi et al., 1995). For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (209900). [from OMIM]

Available tests

61 tests are in the database for this condition.

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Clinical tests (61 available)

Molecular Genetics Tests

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  • Also known as: , BBS4
    Summary: Bardet-Biedl syndrome 4

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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