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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
Orpha Number: 2047
A rare neuroectodermal disorder involving the nervous, cutaneous, skeletal, and glandular systems. Clinical manifestations include eye abnormalities (cataracts, retinitis pigmentosa, and myopia), sensorineural deafness, ataxia, peripheral neuritis, epilepsy, dementia, skin atrophy and striking dental caries. Patients also present with muscle wasting, joint stiffness and bone cysts.
Visit the Orphanet disease page for more resources.
Source: GARD Last updated on 05-01-20
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