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Joubert syndrome is characterized by the presence of a midbrain and hindbrain abnormality called a molar tooth sign, which results from cerebellar hypoplasia, thickened superior cerebellar peduncles, and a deepened interpeduncular fossa. Individuals with Joubert syndrome typically exhibit hypotonia, developmental delay, and variable cognitive impairment, sometimes also associated with breathing abnormalities and oculomotor apraxia. Variant forms of this disorder can also include retinal dystrophy, renal disease, occipital encephalocele, polydactyly, hepatic fibrosis, or other abnormalities.