| Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WW domain containing oxidoreductase deficiency (disorder) | | Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WWOX deficiency | | Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WWOX (WW domain containing oxidoreductase) deficiency
Autosomal recessive spinocerebellar ataxia type 12
Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WW domain containing oxidoreductase deficiency
| | 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. | | syndroom van autosomaal recessieve cerebellaire ataxie, epilepsie en verstandelijke beperking door WWOX-deficiëntie | | syndroom van autosomaal recessieve cerebellaire ataxie, epilepsie en mentale retardatie door WWOX-deficiëntie
autosomaal recessieve spinocerebellaire ataxie type 12
syndroom van autosomaal recessieve cerebellaire ataxie, epilepsie en verstandelijke handicap door WWOX-deficiëntie
syndroom van autosomaal recessieve cerebellaire ataxie, epilepsie en verstandelijke beperking door deficiëntie van 'WW domain-containing oxidoreductase'
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| | Id | 770898002 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| ICD-10 complex map reference set | | Target | G11.1 | | Rule | TRUE | | Advice | ALWAYS G11.1 | | Correlation | SNOMED CT source code to target map code correlation not specified |
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