Phenotype #0000347529

Individual ID 00459455
Associated disease NDD
Diagnosis/Initial neurodevelopmental delay, epilepsy
Diagnosis/Definite -
Phenotype details see paper; ..., 11m-onset seizures; complex partial seizure, and generalized tonic-clonic seizures 2-3 times per year (occasionally fever-induced), twice SE; treated seizure-free 2y; EEG generalized 2-4 Hz slow activity; MRI brain normal; mild intellectual disability
Inheritance Familial, autosomal recessive
Age/Examination 6y (6 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons 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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