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Spinocerebellar ataxia-dysmorphism syndrome
A rare hereditary ataxia characterized by unusual facies (i. e. gross, rough and abundant hair, mild palpebral ptosis, thick lips, and down-curved corners of the mouth), dysarthria, delayed psychomotor development, scoliosis, foot deformities, and ataxia. There have been no further descriptions in the literature since 1985.
ORPHA:1185Classification level: Disorder
A summary on this disease is available in Deutsch (2006) Italiano (2006) Español (2020) Français (2020) Nederlands (2020)
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