Global Variome shared LOVD

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Phenotype #0000346356 Individual ID 00457906 Associated disease ALXDRD Phenotype details no macrocephaly; no seizures; no spasticity; no bulbar/pseudobulbar signs; ataxia; cognitive defect; MRI brain typical with additional increased signal intensity bilaterally within cerebral peduncles, crossing fibers pons, dentate nuclei Diagnosis/Initial Alexander disease, juvenile Inheritance Unknown Diagnosis/Definite ALXDRD Age/Examination 13y9m (13 years, 9 months) Age/Diagnosis - Age/Onset 9y 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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