Global Variome shared LOVD

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Phenotype #0000257412 Individual ID 00334917 Associated disease SCA6 Phenotype details Progressive ataxia from 30 years of age (possible childhood onset) associated with myoclonus, on a background of mild intellectual impairment and sensorineural hearing impairment. MRI showing cerebellar atrophy and EEG findings of diffuse paroxysmal abnormalities consistent with encephalopathy. No migraine. Family history of epilepsy and possible ataxia affecting father and brother (now deceased). Diagnosis/Initial late onset progressive myoclonus epilepsy Inheritance Familial, autosomal dominant Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license No license selected Created by Johan den Dunnen Date created 2021-04-14 09:14:49 +02:00 (CEST) Date last edited N/A

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