Global Variome shared LOVD

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Phenotype #0000346328 Individual ID 00457878 Associated disease ALXDRD Phenotype details macrocephaly; seizures; spasticity; bulbar and/or pseudobulbar signs; ataxia; cognitive defect; MRI brain typical Diagnosis/Initial Alexander disease, juvenile Inheritance Isolated (sporadic) Diagnosis/Definite ALXDRD Age/Examination 12y (12 years) Age/Diagnosis - Age/Onset 2y6m 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 19:58:24 +01:00 (CET) Date last edited N/A

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