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  • A rare autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome characterised by early-childhood onset of cerebellar ataxia associated with generalised tonic-clonic epilepsy and psychomotor development delay, dysarthria, gaze-evoked nystagmus and learning disability. Other features in some patients include upper motor neuron signs with leg spasticity and extensor plantar responses, and mild cerebellar atrophy on brain MRI. Caused by homozygous mutation in the WWOX gene on chromosome 16q23.
  • A rare autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome characterized by early-childhood onset of cerebellar ataxia associated with generalized tonic-clonic epilepsy and psychomotor development delay, dysarthria, gaze-evoked nystagmus and learning disability. Other features in some patients include upper motor neuron signs with leg spasticity and extensor plantar responses, and mild cerebellar atrophy on brain MRI. Caused by homozygous mutation in the WWOX gene on chromosome 16q23.
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