Phenotype #0000257420

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00334875
Associated disease	DD
Phenotype details	Onset age 7 slowly progressive myoclonus, ataxia on a background of developmental delay. Absence with eyelid myoclonia from age 9. No TCS. Moderate cognitive impairment.
Diagnosis/Initial	progressive myoclonus epilepsy , developmental delay
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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