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olivopontocerebellar atrophy-deafness syndrome

Disease Summary
Associated Targets ()

Mondo Description 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.
Mondo Term and Equivalent IDs
MONDO:0017135:  olivopontocerebellar atrophy-deafness syndrome
GARD:0004070: 
Orphanet:2732: 
UMLS:CN202542: