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Bardet-Biedl syndrome 14

Summary

Bardet-Biedl syndrome-14 (BBS14) is an autosomal recessive ciliopathy with features of retinitis pigmentosa, obesity, mental retardation, and renal disease (Leitch et al., 2008). For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (209900). [from OMIM]

Available tests

82 tests are in the database for this condition.

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Clinical tests (82 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: 3H11Ag, BBS14, CT87, JBTS5, LCA10, MKS4, NPHP6, POC3, SLSN6, rd16, CEP290
    Summary: centrosomal protein 290

  • Also known as: JBTS6, MECKELIN, MKS3, NPHP11, TNEM67, TMEM67
    Summary: transmembrane protein 67

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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