Global Variome shared LOVD

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Phenotype #0000208040 Individual ID 00271432 Associated disease FAME Diagnosis/Initial familial adult myoclonic epilepsy Diagnosis/Definite FAME2 Phenotype details mean age onset 26.6y (5-40y); myoclonus/cortical tremor 25/25, tonic-clonic seizures 10/25, focal seizures 0/25; intellectual disability 1/16; dementia 1/16 (58y); drug resistant epilepsy 0/16; ataxia 1/16migraine/headache: 4/16; psychiatric disorders (depression and/or anxiety with panic attacks) 6/16 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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