Phenotype #0000208070

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00271481
Associated disease	FAME
Diagnosis/Initial	familial cortical myoclonic tremor with epilepsy
Diagnosis/Definite	FAME1
Phenotype details	30y-onset myoclonic tremor; 30y-onset seizures; generalized seizures, 2 seizures/month; EEG frequent burst of generalized spike and wave complexes or generalized polyspike and wave complexes
Inheritance	Familial, autosomal dominant
Age/Examination	45y (45 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2019-12-19 19:40:57 +01:00 (CET)
Date last edited	N/A

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