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Olivopontocerebellar atrophy-deafness syndrome
rareOlivopontocerebellar atrophy-deafness syndrome is characterized 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.
- Identifiers
- MONDO:0017135 Orphanet:2732
- Part of
- Syndromic disease
- Also known as
- Olivopontocerebellar Atrophy · olivopontocerebellar atrophy deafness
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