Phenotype #0000347531

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00459457
Associated disease	NDD
Diagnosis/Initial	neurodevelopmental delay, epilepsy
Diagnosis/Definite	-
Phenotype details	see paper; ..., 3m-onset seizures; generalized and focal seizures; EEG multifocal spike and spike-slow waves; MRI brain delayed myelination; global developmental delay, intellectual disability, speech delay, motor delay
Inheritance	Familial, autosomal recessive
Age/Examination	5m
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

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