Phenotype #0000070612

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00092276
Associated disease	EPM1A
Inheritance	Familial, autosomal recessive
Phenotype details	neurodegenerative phenotype, neurotransmitter abnormalities; seizures responded to Levocarbidopa and 5OH-tryptophan
Diagnosis/Initial	-
Age/Examination	-
Diagnosis/Definite	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2016-12-16 20:09:31 +01:00 (CET)
Date last edited	N/A

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