Global Variome shared LOVD

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Phenotype #0000346296 Individual ID 00457848 Associated disease ALXDRD Phenotype details see paper; ..., 1.2y-deceased; progressive megalencephaly, OFC SD+3; 3m-psychomotor degradation; occasional seizures; MRI rostrocaudal gradient abnormal white matter signal; Rosenthal fibers; feeding difficulties; respiratory difficulties; neuropathology Diagnosis/Initial infantile disease Alexander disease Inheritance Isolated (sporadic) Diagnosis/Definite ALXDRD Age/Examination 1.2y Age/Diagnosis - Age/Onset 3m 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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