Global Variome shared LOVD

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Phenotype #0000229894 Individual ID 00302812 Associated disease NBIA Phenotype details see paper; ... Diagnosis/Initial early-onset epileptic encephalopathy Inheritance Isolated (sporadic) Diagnosis/Definite NBIA5 Age/Examination 00y19m (19 months) Age/Onset - Phenotype/Onset epileptic spasms associated with focal seizures Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2020-06-01 13:28:40 +02:00 (CEST) Date last edited N/A

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