Bardet-Biedl syndrome/BBS8

Genetics

• mutations in the TTC8 gene on chromosome 4q32.11

More general terms

• Bardet-Biedl syndrome

Additional terms

• tetratricopeptide repeat protein 8; TPR repeat protein 8; Bardet-Biedl syndrome 8 protein (TTC8, BBS8)

Database

• OMIM: https://mirror.omim.org/entry/209900
• OMIM: https://mirror.omim.org/entry/608132