Global Variome shared LOVD

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Phenotype #0000346304 Individual ID 00457856 Associated disease ALXDRD Phenotype details see paper; ..., 10y-deceased, leukoencephalopathy, macrocephaly, seizures, psychomotor retardation Diagnosis/Initial Alexander disease Inheritance Isolated (sporadic) Diagnosis/Definite ALXDRD Age/Examination 10y (10 years) Age/Diagnosis - Age/Onset <1y 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 14:57:20 +01:00 (CET) Date last edited N/A

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