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GTR Home > Conditions/Phenotypes > Bardet-Biedl syndrome 16

Bardet-Biedl syndrome 16

Summary

Bardet-Biedl syndrome-16 (BBS16) is an autosomal recessive ciliopathy characterized by retinal degeneration, obesity, renal disease, and cognitive impairment. Although polydactyly is considered a primary feature of BBS overall, it has not been reported in any BBS16 patient (Billingsley et al., 2012). For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (209900). [from OMIM]

Available tests

43 tests are in the database for this condition.

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Clinical tests (43 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: BBS16, CCCAP, CCCAP SLSN7, HSPC085, NPHP10, NY-CO-8, SLSN7, hCCCAP, SDCCAG8
    Summary: SHH signaling and ciliogenesis regulator SDCCAG8

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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