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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
Orpha Number: 2572
Spastic ataxia-corneal dystrophy syndrome is a rare, hereditary ataxia disorder characterized by the presence of spastic ataxia in association with bilateral congenital cataract, macular corneal dystrophy (stromal with deposition of mucoid material) and nonaxial myopia. Patients present normal intellectual development. There have been no further descriptions in the literature since 1986.
Visit the Orphanet disease page for more resources.
Source: GARD Last updated on 05-01-20
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