Global Variome shared LOVD

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Phenotype #0000208048 Individual ID 00271440 Associated disease FAME Diagnosis/Initial familial adult myoclonic epilepsy Diagnosis/Definite FAME2 Phenotype details mean age onset 17.7y (12-23y); myoclonus/cortical tremor 3/3, tonic-clonic seizures 1/3, focal seizures 0/3; intellectual disability 0/3; dementia 0/3; drug resistant epilepsy 0/3; ataxia 0/3 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 13:57:03 +01:00 (CET) Date last edited 2019-12-19 15:56:31 +01:00 (CET)

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