Phenotype #0000328646

Individual ID	00438748
Associated disease	ID
Diagnosis/Initial	developmental and epileptic encephalopathy
Diagnosis/Definite	MRD56
Inheritance	Isolated (sporadic)
Phenotype details	see paper; ..., severe intellectual disability; 1y-seizure; EEG non-specific irritative pattern, no foci; MRI brain thin/short corpus callosum with hypoplasia posterior part, wide Virchow-Robin spaces; neonatal-onset hypotonia, no speech, acquired microcephaly, severe gastroinstestinal reflux, no seizures under VPA
Age/Examination	16y (16 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2023-10-23 14:13:02 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD