Phenotype #0000328636

Individual ID	00438738
Associated disease	DEE
Diagnosis/Initial	developmental and epileptic encephalopathy
Diagnosis/Definite	DEE92
Phenotype details	see paper; ..., global developmental delay, severe intellectual disability; 2y-seizure; EEG high-amplitude rhythmic slow waves; MRI brain 2y-mild increase in lateral ventricles, 3y-normal; acquired microcephaly, brisk reflexes, seizure control with lamotrigine
Inheritance	Isolated (sporadic)
Age/Examination	10y (10 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2023-10-23 13:31:00 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD