Joubert syndrome (JBTS) is an inherited disorder that affects multiple systems in the body. One of the key features of JBTS is an abnormality in the brain called molar tooth sign, which can be seen on brain imaging studies such as magnetic resonance imaging (MRI). Other symptoms of JBTS may include weak muscle tone in infancy with later development into uncoordinated muscle control, abnormal breathing in infancy, eye abnormalities, kidney disease, liver disease, skeletal abnormalities, hormone problems, and characteristic facial features. Most affected children have developmental delay and intellectual disability, which can range from mild to severe. The life expectancy of individuals with JBTS may be affected because of the specific manifestations of the disorder. There is no cure for JBTS but medical surveillance and care may help to improve some symptoms and overall condition of life. One of the causes of JBTS is pathogenic variants in the TMEM216 gene.