Phenotype #0000170594

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00225479
Associated disease	seizures
Diagnosis/Initial	seizures
Diagnosis/Definite	-
Phenotype details	see paper; …, monthly seizures, severe hypomagnesemia, renal magnesium wasting, global developmental delay, suspected autism spectrum disorder
Inheritance	Isolated (sporadic)
Age/Examination	10y (10 years)
Age/Diagnosis	-
Age/Onset	2m
Phenotype/Onset	generalized seizures
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2019-02-17 10:33:52 +01:00 (CET)
Date last edited	N/A

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