Olivopontocerebellar atrophy-deafness syndrome

Orpha code: 2732OMIM code:

Definicja

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
Klasyfikacja

Malformation syndrome

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

No additional description.

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