Joubert syndrome 2 (JBTS2)

Joubert syndrome 2 (JBTS2) is an inherited disease characterized by brain malformations, developmental delay, low muscle tone, and breathing abnormalities. Signs and symptoms of JBTS2 are thought to be caused by the abnormal functioning of cilia, which are hair-like structures found on the surface of all cells of the body. JBTS2 is also known as cerebello-oculo-renal syndrome 2 (CORS2). View testing options