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GTR Home > Conditions/Phenotypes > Bardet-Biedl syndrome 10

Bardet-Biedl syndrome 10

Summary

BBS10 is characterized by progressive retinal dystrophy, obesity, polydactyly, cognitive impairment, and renal dysplasia (Stoetzel et al., 2006). BBS10 represents a major locus for BBS, with mutations in the BBS10 gene accounting for approximately 20% of BBS patients (Stoetzel et al., 2006; 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

75 tests are in the database for this condition.

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Clinical tests (75 available)

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  • Also known as: C12orf58, BBS10
    Summary: Bardet-Biedl syndrome 10

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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