Global Variome shared LOVD

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Phenotype #0000346287 Individual ID 00457839 Associated disease ALXDRD Phenotype details see paper; ..., OFC SD+0.5; 6m-delayed psychomotor development; occasional seizures; MRI abnormalities suggestive of Alexander disease Diagnosis/Initial infantile disease Alexander disease Inheritance Isolated (sporadic) Diagnosis/Definite ALXDRD Age/Examination 4.7y Age/Diagnosis - Age/Onset 6m 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 2024-11-20 12:59:57 +01:00 (CET) Date last edited N/A

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