[MIM 614 322]

(Autosomal recessive cerebellar ataxia syndrome - epilepsy-intellectual disability due to WWOX deficiency) .

Extremely rare: a few described cases. Autosomal recessive transmission of a mutation of the WWOX gene (16q23.1-q23.2). Association of cerebellar ataxia, generalized convulsions appearing in childhood with delayed psychomotor development, mental retardation, and spasticity.

Anesthetic implications:

epilepsy, mental retardation

References :

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Updated: December 2021