Global Variome shared LOVD

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Phenotype #0000346316 Individual ID 00457866 Associated disease ALXDRD Phenotype details 10y7m-deceased; no macrocephaly; seizures; spasticity; bulbar and/or pseudobulbar signs; cognitive defect; pathology from autopsy; MRI brain typical Diagnosis/Initial Alexander disease, infantile Inheritance Isolated (sporadic) Diagnosis/Definite ALXDRD Age/Examination 10y7m (10 years, 7 months) Age/Diagnosis - Age/Onset 5m 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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