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

Disease definition

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.

ORPHA:284282

Classification level: Disorder
  • Synonym(s):
    • Autosomal recessive spinocerebellar ataxia type 12
    • SCAR12
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: G11.1
  • OMIM: 614322
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -

Detailed information

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