Bardet-Biedl syndrome/BBS14

Genetics

• associated with defects in CEP290

More general terms

• Bardet-Biedl syndrome

Additional terms

• centrosomal protein of 290 kD; Cep290; Bardet-Biedl syndrome 14 protein; cancer/testis antigen 87; CT87; nephrocystin-6; tumor antigen se2-2 (CEP290, BBS14, KIAA0373, NPHP6)

Database

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