Olivopontocerebellar atrophy-deafness syndrome
Synonyms: Olivopontocerebellar atrophy-hearing loss syndrome
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.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version September 2023.
Newly diagnosed with
Olivopontocerebellar atrophy-deafness syndrome?
Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
For a list of clinical trials in this disease area, please click here.