Joubert Syndrome 30 (JBTS30)

Joubert Syndrome 30, also known as jbts30, is related to hydrolethalus syndrome 1 and orofaciodigital syndrome i. An important gene associated with Joubert Syndrome 30 is ARMC9 (Armadillo Repeat Containing 9), and among its related pathways/superpathways are Organelle biogenesis and maintenance and Rab regulation of trafficking. Affiliated tissues include liver and brain, and related phenotypes are intellectual disability and global developmental delay