Global Variome shared LOVD

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Phenotype #0000346324 Individual ID 00457874 Associated disease ALXDRD Phenotype details <11y6m-chronic bed-wetting; 11y6m-scoliosis; no macrocephaly; no seizures; spasticity; no bulbar/pseudobulbar signs; no ataxia; no cognitive defect; MRI brain atypical Diagnosis/Initial Alexander disease, juvenile Inheritance Isolated (sporadic) Diagnosis/Definite ALXDRD Age/Examination 16y (16 years) Age/Diagnosis - Age/Onset 11y6m 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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