Joubert Syndrome Type 2

Also known as Cerebelloculorenal Syndrome

This disorder is characterized by decreased muscle tone, difficulty with coordination, abnormal eye movements, abnormal breathing patterns in infancy and cognitive impairment often due to brain malformations. There are also physical deformities such as eye malformations, extra fingers and toes and genital differences. Kidney and liver diseases may develop. Seizures may also occur. Shortened life expectancy. Cognitive impairment. Physical impairment.

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