Global Variome shared LOVD

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Phenotype #0000292489 Individual ID 00399378 Associated disease EPM Phenotype details see paper ..., progressive myoclonus epilepsy; 2y-mild gait ataxia, transient episodes omotor deterioration triggered by infection and fever; 14y-generalized action myoclonus, epilepsy; heterozygous carrier brother suffers from typical cervical dystonia Diagnosis/Initial progressive myoclonus epilepsy Inheritance Familial, autosomal recessive Diagnosis/Definite EPM6 Age/Examination 61y (61 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2022-01-20 11:46:44 +01:00 (CET) Date last edited N/A

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