Global Variome shared LOVD

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Phenotype #0000328642 Individual ID 00438744 Associated disease DEE Diagnosis/Initial global developmental delay Diagnosis/Definite MRD56 Phenotype details see paper; ..., global developmental delay; no seizures; EEG normal; MRI brain normal; mild ataxia, possible myoclonus Inheritance Isolated (sporadic) Age/Examination 03y02m (3 years, 2 months) Age/Diagnosis - Age/Onset - Phenotype/Onset - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2023-10-23 14:02:24 +02:00 (CEST) Date last edited N/A

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