Global Variome shared LOVD

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Phenotype #0000229985 Individual ID 00302907 Associated disease NBIA Phenotype details see paper; ..., 3m-epileptic spasm bilateral eye gazing toward right or left with head deviation, followed by generalized tonic-clonic seizures lasting several minutes occurring in clusters of 2-4 per day with approximately four spams per cluster Diagnosis/Initial epileptic spasm Inheritance Isolated (sporadic) Diagnosis/Definite NBIA5 Age/Examination 00y09m (9 months) Age/Onset 00y03m Phenotype/Onset epileptic spasm Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2020-06-03 17:21:01 +02:00 (CEST) Date last edited N/A

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