Phenotype #0000257425

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00334938
Associated disease	HMN8
Phenotype details	Onset age 12 of multifocal action and rest myoclonus. Frequent TCS and absence seizures refractory to medication from 22 years of age. No ataxia, normal cognition. Moderate dysarthria.
Diagnosis/Initial	late onset Unverricht-Lundborg disease like
Inheritance	Isolated (sporadic)
Diagnosis/Definite	-
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license	No license selected
Created by	Johan den Dunnen
Date created	2021-04-14 09:14:49 +02:00 (CEST)
Date last edited	N/A

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