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Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency is 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.
Features include always present findings: Hyporeflexia, Bilateral tonic-clonic seizure, Gaze-evoked nystagmus, and EEG abnormality and others; and common findings: Babinski sign and Lower limb spasticity. 19 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Brain and nerves | 11 | Hyporeflexia, Bilateral tonic-clonic seizure, Babinski sign |
Eyes | 3 | Gaze-evoked nystagmus, Retinal degeneration, Damage to the optic nerve (optic atrophy) |
Muscles | 3 | Shrinkage of the cerebellum (cerebellar atrophy), Damage to the optic nerve (optic atrophy), Cerebellar vermis atrophy |
Arms and legs | 2 | Lower limb spasticity, Limb ataxia |
Head and neck | 1 | Microcephaly |
Growth and development | 1 | Growth delay |
Age of onset: infancy.
WWOX function has not been fully characterized.
Autosomal recessive spinocerebellar ataxia 12 is associated with mutations in the WWOX gene on chromosome 16.
Genetic testing for WWOX is available. Testing is considered confirmatory for diagnosis.
Phenotype severity distribution: 11 always present features, 2 common features.
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
No clinical trials have been registered for autosomal recessive spinocerebellar ataxia 12.
2 publications have been identified in PubMed for autosomal recessive spinocerebellar ataxia 12. Research spans Case Report / Case Series (100%).
Sapuppo A (2026). [PMID: 42193054](https://pubmed.ncbi.nlm.nih.gov/42193054/). *Curr Issues Mol Biol*. [Case Report / Case Series]
Teplyshova A (2024). [PMID: 39507621](https://pubmed.ncbi.nlm.nih.gov/39507621/). *Front Genet*. [Case Report / Case Series]
Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 5:37 PM UTC
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center