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

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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: -

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

ORPHA:284282

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