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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
Orpha Number: 2732
Olivopontocerebellar atrophy-deafness syndrome is characterised by infancy- onset olivopontocerebellar atrophy, sensorineural deafness and speech impairment. It has been described in less than 15 children. Most cases were sporadic, but autosomal recessive inheritance was suggested in three cases.
Visit the Orphanet disease page for more resources.
Source: GARD Last updated on 05-01-20
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