Phenotype #0000208043

Individual ID 00271435
Associated disease FAME
Diagnosis/Initial familial adult myoclonic epilepsy
Diagnosis/Definite FAME2
Phenotype details mean age onset 18.5y (17-20y); myoclonus/cortical tremor 6/6, tonic-clonic seizures 4/6, focal seizures 0/6; intellectual disability 0/6; dementia 1/6 (onset >70y); drug resistant epilepsy 0/6; ataxia 0/6
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 InternationalCreative Commons License
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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