Global Variome shared LOVD

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Phenotype #0000346395 Individual ID 00457945 Associated disease ALXDRD Phenotype details see paper; ..., 13y-slowly progressive motor/mental deterioration, slurred nasal voice, elevation αB-crystallin/HSP27 in CSF, characteristic neuroimaging findings (frontal dominant leukodystrophy with cyst formation, prominent involvement arcuate fibers, diffuse symmetric lesions basal nuclei, subependymal stripes around ateral ventricle); 8y-generalized febrile convulsion with bilateral frontal spikes, school performance declined, motor function worsened; 21y-walk short distances independently, speak slowly in simple sentences, play video games Diagnosis/Initial juvenile Alexander disease Inheritance Isolated (sporadic) Diagnosis/Definite ALXDRD Age/Examination 21y (21 years) Age/Diagnosis - Age/Onset - 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 2024-11-21 19:12:57 +01:00 (CET) Date last edited N/A

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