Phenotype #0000351795

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00466432
Associated disease	seizures
Diagnosis/Initial	seizures
Diagnosis/Definite	EPEO2
Phenotype details	see paper; ..., born at term; 2d-paroxysmal seizures (blinking, staring, foaming, twisting at mouth), 2-3x per day facial cyanosis averaging; MRI brain normal; normal development
Inheritance	Familial, autosomal dominant
Age/Examination	01y03m (1 year, 3 months)
Age/Diagnosis	-
Age/Onset	00y00m02d
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2025-09-04 18:13:10 +02:00 (CEST)
Date last edited	2025-09-04 18:18:23 +02:00 (CEST)

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