A Bardet-Biedl syndrome that has material basis in homozygous mutation in the CEP290 gene on chromosome 12q21.
Comprehensive, easy-to-understand information about this condition
Checking for content...
Gene data from MyGene.info • Click to view on NCBI Gene
Bardet-Biedl syndrome 1
MONDO:0008854
Bardet-Biedl syndrome 3
MONDO:0010832
Bardet-Biedl syndrome 6
MONDO:0011523
Joubert syndrome 5
MONDO:0012432
Senior-Loken syndrome 6
MONDO:0012433
Meckel syndrome, type 4
MONDO:0012626