Global Variome shared LOVD

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Phenotype #0000229912 Individual ID 00302830 Associated disease NBIA Phenotype details see paper; ..., global developmental delay Diagnosis/Initial global developmental delay Inheritance Isolated (sporadic) Diagnosis/Definite NBIA5 Age/Examination 34y (34 years) Age/Onset 02y Phenotype/Onset - 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 20:33:33 +02:00 (CEST) Date last edited N/A

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