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GTR Home > Conditions/Phenotypes > Bardet-Biedl syndrome 11

Bardet-Biedl syndrome 11

Summary

Bardet-Biedl syndrome-11 (BBS11) is a pleiotropic autosomal recessive disorder characterized by obesity, pigmentary retinopathy, polydactyly, renal abnormalities, learning disabilities, and hypogenitalism (Chiang et al., 2006). For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (209900). [from OMIM]

Available tests

66 tests are in the database for this condition.

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Clinical tests (66 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: BBS11, HT2A, LGMD2H, LGMDR8, TATIP, TRIM32
    Summary: tripartite motif containing 32

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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