Olivopontocerebellar atrophy-deafness syndrome

Orpha code: 2732OMIM code:

Definition

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.

Disease data
Classification

Malformation syndrome

Synonyms
Olivopontocerebellar atrophy-hearing loss syndrome
ORPHA code
2732
OMIM code
-
ICD10 code
Q04.8
ICD11 code
LD2H.Y

No additional description.

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