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en:onset usually at birth
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en:breech presentation
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en:onset in early infancy
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en:four unrelated patients have been reported (last curated june 2014)
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en:clinically 'silent' nystagmus evident on eye movement recording in carrier females
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en:associated with iron deficiency anemia
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en:broad-based gait
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en:incidence of 1 in 10,000 live births
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en:increased incidence in asian countries (e.g., 1.46 per 10,000 live births in taiwan)
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en:all reported mutations have occurred de novo
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