Global Variome shared LOVD

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Phenotype #0000337689 Individual ID 00448512 Associated disease NEDEPH Diagnosis/Initial - Diagnosis/Definite - Phenotype details Delayed gross motor development, Neurodevelopmental delay, Abnormal visual fixation, Focal-onset seizure, Febrile status epilepticus, Esodeviation, Large for gestational age, EEG abnormality, Hypomethioninemia Inheritance Isolated (sporadic) Age/Examination 01y (1 year) Age/Diagnosis - Age/Onset - Phenotype/Onset - Owner name Andreas Laner Database submission license Creative Commons Attribution 4.0 International Created by Andreas Laner Date created 2024-03-18 16:38:37 +01:00 (CET) Date last edited 2024-03-18 22:31:42 +01:00 (CET)

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