Global Variome shared LOVD

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Phenotype #0000208042 Individual ID 00271434 Associated disease FAME Diagnosis/Initial familial adult myoclonic epilepsy Diagnosis/Definite FAME2 Phenotype details mean age onset 22.75y (10-36y); myoclonus/cortical tremor 4/4, tonic-clonic seizures 3/4, focal seizures 0/4; intellectual disability 0/4; drug resistant epilepsy 0/4psychiatric disorders 1/4 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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