Joubert Syndrome 22 (JBTS22)

Joubert Syndrome 22, also known as jbts22, is related to joubert syndrome 1 and polydactyly. An important gene associated with Joubert Syndrome 22 is PDE6D (Phosphodiesterase 6D), and among its related pathways/superpathways are Organelle biogenesis and maintenance and Bardet-Biedl syndrome. Affiliated tissues include liver and brain, and related phenotypes are postaxial hand polydactyly and postaxial foot polydactyly