Bardet-Biedl syndrome/BBS1

Genetics

• mutations in the BBS1 gene on chromosome 11q13

Laboratory

• BBS1 gene mutation

More general terms

• Bardet-Biedl syndrome

Additional terms

• Bardet-Biedl syndrome 1 protein; BBS2-like protein 2 (BBS1, BBS2L2)

Database

• OMIM: https://mirror.omim.org/entry/209901