Phenotype #0000229684

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00276082
Associated disease	PVNH
Diagnosis/Initial	periventricular nodular heterotopia
Diagnosis/Definite	PVNH7
Phenotype details	severe neurodevelopmental delay, seizures, hypospadias, MRI revealed bilateral periventricular nodular heterotopia and perisylvian polymicrogyria
Inheritance	Isolated (sporadic)
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license	No license selected
Created by	Johan den Dunnen
Date created	2020-05-26 13:08:43 +02:00 (CEST)
Date last edited	2020-05-26 13:14:55 +02:00 (CEST)

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