Joubert syndrome is a disorder of brain development that may affect many parts of the body. It is characterized by the absence or underdevelopment of the cerebellar vermis (a part of the brain that controls balance and coordination) and a malformed brain stem (connection between the brain and spinal cord). Together, these cause the characteristic appearance of a molar tooth sign on MRI. Signs and symptoms can vary but commonly include hypotonia; abnormal breathing patterns; abnormal eye movements; ataxia; distinctive facial features; and intellectual disability. Various other abnormalities may also be present. It is inherited following an autosomal recessive pattern, but rarely it may be X-linked. The DBGen Joubert Syndrome Panel analyzes the coding region of 42 genes and 4 deep intronic mutations.