Phenotype #0000347524

Individual ID	00459450
Associated disease	NDD
Diagnosis/Initial	neurodevelopmental delay, epilepsy
Diagnosis/Definite	-
Phenotype details	see paper; ..., 3m-onset seizures; generalized tonic-clonic seizures 3 times per month; treated seizure-free 6m; EEG spike-slow waves in bilateral frontal-central and right posterior-parietal temporal areas; MRI brain normal; mild global developmental delay, intellectual disability, motor delay
Inheritance	Familial, autosomal recessive
Age/Examination	2y (2 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2025-01-05 10:54:19 +01:00 (CET)
Date last edited	N/A

Global Variome shared LOVD