Phenotype #0000327876

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00437969
Associated disease	WITKOS
Diagnosis/Initial	-
Diagnosis/Definite	WITKOS
Phenotype details	see paper; ..., ; no intellectual disability; mild receptive > expressive; ; neurological hypotonia; epilepsy; MRI brain normal; mild downslanted pf; high and broad forehead; prominent chin;
Inheritance	Isolated (sporadic)
Age/Examination	-
Age/Diagnosis	-
Age/Onset	10y
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2023-10-17 21:19:59 +02:00 (CEST)
Date last edited	N/A

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