Global Variome shared LOVD

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Phenotype #0000351867 Individual ID 00466504 Associated disease seizures Diagnosis/Initial neonatal onset seizures Diagnosis/Definite EIEE66 Phenotype details see paper; ..., neonatal onset seizures, mild dysmorphic features, developmental delay; birth cesarean delivery, hypotonic, high arched palate, micrognathia, muscular cardiac ventricle septal defect, micropenis; poor suck, difficulty with latching, required feeding tube; 5d-seizures, EEG abnormal, focal seizures Inheritance Isolated (sporadic) Age/Examination 03y (3 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2025-09-08 21:15:56 +02:00 (CEST) Date last edited N/A

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