Phenotype #0000294249

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00401206
Associated disease	EPM
Phenotype details	birth-hypotonia; 13m-walk on toes and needed support during walking; 4y-gait disorder, motoric skill impairment; ataxia; 5-6y-myoclonus; 8y-seizures; scoliosis; wheelchair bound
Diagnosis/Initial	progressive myoclonus epilepsy
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	EPM6
Age/Examination	41y (41 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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