Phenotype #0000328649

Individual ID	00438751
Associated disease	DEE
Diagnosis/Initial	developmental and epileptic encephalopathy
Diagnosis/Definite	MRD56
Phenotype details	see paper; ..., global developmental delay, severe intellectual disability; 3y-seizure; EEG multifocal spike-wave, bi-frontal predominance; MRI brain thin corpus calloum T2 hypersignal in white matter, enlarged lateral ventricles; acquired microcephaly, severe hypotonia, ataxia, oral and motor apraxia, intractable seizures
Inheritance	Isolated (sporadic)
Age/Examination	07y06m (7 years, 6 months)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2023-10-23 14:28:04 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD