Phenotype #0000229685

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
Register as submitter | Log in

Individual ID	00276083
Associated disease	PVNH
Diagnosis/Initial	periventricular nodular heterotopia
Diagnosis/Definite	PVNH7
Phenotype details	severe neurodevelopmental delay, refractory seizures, bilateral periventricular nodular heterotopia, perisylvian polymicrogyria
Inheritance	Familial, autosomal dominant
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 13:12:00 +02:00 (CEST)
Date last edited	N/A

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.