Global Variome shared LOVD

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Phenotype #0000229973 Individual ID 00302895 Associated disease NBIA Phenotype details see paper; ..., 13m-seizures associated with fever and urinary tract infections Diagnosis/Initial Rett-like syndrome Inheritance Isolated (sporadic) Diagnosis/Definite NBIA5 Age/Examination 29y (29 years) Age/Onset 00y13m Phenotype/Onset 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 2020-06-03 15:24:02 +02:00 (CEST) Date last edited 2020-06-03 15:25:48 +02:00 (CEST)

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