Bardet-Biedl syndrome/BBS6
Jump to navigation
Jump to search
Genetics
- mutations in the MKKS gene on chromosome 20p12
- mutation in same gene causes McKusick-Kaufman syndrome
More general terms
Additional terms
- Bardet-Biedl syndrome 6 protein; McKusick-Kaufman/Bardet-Biedl syndromes putative chaperonin (MKKS, BBS6)
- McKusick-Kaufman syndrome (hydrometrocolpos syndrome, hydrometrocolpos, postaxial polydactyly, & congenital heart malformation)