Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.

Keyword - Bardet-Biedl syndrome (KW-0083)

Keywords navigation



Protein which, if defective, causes Bardet-Biedl syndrome (BBS), a genetically heterogeneous, autosomal recessive disorder. It is characterized by pigmentary retinopathy, obesity, polydactyly, hypogenitalism, renal malformation and mental retardation. Secondary features include diabetes mellitus, hypertension and congenital heart disease.


  • BBS




CiliopathyBardet-Biedl syndromeDisease
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

We'd like to inform you that we have updated our Privacy Notice to comply with Europe’s new General Data Protection Regulation (GDPR) that applies since 25 May 2018.

Do not show this banner again