Phenotype #0000294244

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00401201
Associated disease	EPM
Phenotype details	1-2y-delayed motor development (difficulties sitting without support, 22m-walk), gait disorder, frequently falling, clumsiness, hypotonia; 2y-ataxia; 5y-myoclonus; 7y-seizures; walks
Diagnosis/Initial	progressive myoclonus epilepsy
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	EPM6
Age/Examination	8y (8 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2022-01-28 17:16:23 +01:00 (CET)
Date last edited	N/A

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