Global Variome shared LOVD

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Phenotype #0000346398 Individual ID 00457948 Associated disease ALXDRD Phenotype details see paper; ..., 38d deceased (prolonged seizures, respiratory failure); 1d-poor feeding; 5d-emesis, poor feeding Diagnosis/Initial infantile Alexander disease Inheritance Unknown Diagnosis/Definite ALXDRD Age/Examination 00y00m38d (38 days) Age/Diagnosis - Age/Onset - 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 2024-11-21 19:41:36 +01:00 (CET) Date last edited N/A

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