Global Variome shared LOVD

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Phenotype #0000346283 Individual ID 00457835 Associated disease ALXDRD Phenotype details see paper; ..., 5.4y-deceased; progressive megalencephaly, OFC SD+3; 4m-psychomotor degradation; recurrent seizures; MRI rostrocaudal gradient abnormal white matter signal; biopsy Rosenthal fibers; feeding difficulties; respiratory difficulties; neuropathology Diagnosis/Initial infantile disease Alexander disease Inheritance Unknown Diagnosis/Definite ALXDRD Age/Examination 5.4y Age/Diagnosis - Age/Onset 4m 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 12:59:57 +01:00 (CET) Date last edited N/A

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