Phenotype #0000341657

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00453013
Associated disease	GCE
Inheritance	Familial, autosomal recessive
Diagnosis/Initial	epilepsy
Age/Examination	00y00m27d (27 days)
Diagnosis/Definite	phenotype individual after molecular testing
Age/Diagnosis	00y01m
Age/Onset	00y00m03d
Phenotype/Onset	lethargy, myoclonic and seizures
Phenotype details	MRI:Extracerebral space and bilateral ventricles;Alive at 3 year 2 months, seizures, choreiform movement disorders
Protein	-
Owner name	Zhizi Zhou
Database submission license	No license selected
Created by	Zhizi Zhou
Date created	2024-08-13 05:08:51 +02:00 (CEST)
Date last edited	2024-08-16 09:33:41 +02:00 (CEST)

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