Global Variome shared LOVD

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Phenotype #0000208033 Individual ID 00271426 Associated disease FAME Diagnosis/Initial autosomal dominant cortical myoclonus and epilepsy Diagnosis/Definite FAME2 Phenotype details mean age onset 22.3y (12-50y); myoclonus/cortical tremor 11/11, tonic-clonic seizures 11/11, focal seizures 3/11; intellectual disability mild 3/11, moderate 1/11; dementia 0/11; drug resistant epilepsy 2/11; ataxia 0/11 Inheritance Familial, autosomal dominant Age/Examination - 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 2019-12-19 12:59:43 +01:00 (CET) Date last edited 2019-12-19 14:47:49 +01:00 (CET)

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