Global Variome shared LOVD

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Phenotype #0000346325 Individual ID 00457875 Associated disease ALXDRD Phenotype details 33y-deceased; no macrocephaly; no seizures; no spasticity; bulbar and/or pseudobulbar signs; ataxia; no cognitive defect; pathology from autopsy; MRI brain atypical Diagnosis/Initial Alexander disease, adult Inheritance Unknown Diagnosis/Definite ALXDRD Age/Examination 33y (33 years) Age/Diagnosis - Age/Onset 24y 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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