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GTR Home > Conditions/Phenotypes > Bardet-Biedl syndrome 8

Bardet-Biedl syndrome 8

Summary

BBS8 is an autosomal recessive disorder characterized by retinitis pigmentosa, obesity, postaxial polydactyly, hypogonadism, and developmental delay (Ansley et al., 2003). For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (209900). [from OMIM]

Available tests

45 tests are in the database for this condition.

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Clinical tests (45 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: BBS8, RP51, TTC8
    Summary: tetratricopeptide repeat domain 8

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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