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  • An extremely rare autosomal recessive hereditary cerebellar ataxia disorder with characteristics of early onset of progressive, mild to moderate gait and limb ataxia, moderate to severe dysarthria and nystagmus or saccadic pursuit, frequently associated with epilepsy, moderate intellectual disability, delayed speech acquisition and hyporeflexia in the upper extremities. Hyperreflexia in the lower extremities may also be associated.
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