Bardet-Biedl Syndrome 14 (BBS14)

Bardet-Biedl Syndrome 14, also known as bbs14, is related to joubert syndrome 6 and joubert syndrome 2. An important gene associated with Bardet-Biedl Syndrome 14 is CEP290 (Centrosomal Protein 290), and among its related pathways/superpathways are Organelle biogenesis and maintenance and Ciliary landscape. Affiliated tissues include heart, and related phenotypes are intellectual disability and nystagmus