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GTR Home > Conditions/Phenotypes > Bardet-Biedl syndrome 7

Summary

Bardet-Biedl syndrome-7 (BBS7) is an autosomal recessive disorder characterized by retinitis pigmentosa, postaxial polydactyly, mental retardation, obesity, renal anomalies, and hypogenitalism (Harville et al., 2010). Zaghloul and Katsanis (2009) estimated the contribution of BBS7 gene mutations to the total BBS mutational load to be 1.50%. For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (209900). [from OMIM]

Available tests

59 tests are in the database for this condition.

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Genes See tests for all associated and related genes

  • Also known as: BBS2L1, BBS7
    Summary: Bardet-Biedl syndrome 7

Clinical features

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