Joubert Syndrome

Joubert syndrome, a rare genetic disorder characterized by partial or complete absence of a certain area of the brain (cerebellar vermis), diminished muscle tone (hypotonia), intellectual disability, psychomotor retardation, abnormal eye movements, and respiratory abnormalities including episodes of abnormally rapid breathing. Although rare, several hundred individuals with Joubert syndrome have been reported in the medical literature. Mutations in at least 35 genes cause Joubert syndrome.(NORD)

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