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Bardet-Biedl syndrome 3

Summary

Bardet-Biedl syndrome-3 (BBS3) is a rare autosomal recessive disorder characterized by retinal dystrophy, polydactyly, renal structural abnormalities, and history of obesity. Although mental retardation has been considered part of the BBS phenotype, several patients with BBS3 and normal intelligence have been reported. Additionally, the obesity in several BBS3 patients has been reversible with caloric restriction and exercise (Young et al., 1998; Ghadami et al., 2000). For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (209900). [from OMIM]

Available tests

52 tests are in the database for this condition.

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Clinical tests (52 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: BBS3, RP55, ARL6
    Summary: ADP ribosylation factor like GTPase 6

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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