Global Variome shared LOVD

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Phenotype #0000346299 Individual ID 00457851 Associated disease ALXDRD Phenotype details see paper; ..., 40w-birth, weight 2550g (−1.6SD), length 46cm (−2.0SD), OFC 31cm (−1.8SD); developmental milestones slightly delayed, 5m-head control, 12m-stand, 20m-walk, 24m-first speech; 5y-first seizure Diagnosis/Initial infantile-juvenile form Alexander disease Inheritance Unknown Diagnosis/Definite ALXDRD Age/Examination 06y (6 years) 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 2024-11-20 14:26:54 +01:00 (CET) Date last edited N/A

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