Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000346332 Individual ID 00457882 Associated disease ALXDRD Phenotype details 8y-deceased; no macrocephaly; seizures; no spasticity; bulbar and/or pseudobulbar signs; ataxia; cognitive defect; MRI brain typical Diagnosis/Initial Alexander disease, infantile Inheritance Isolated (sporadic) Diagnosis/Definite ALXDRD Age/Examination 8y (8 years) Age/Diagnosis - Age/Onset 1y6m 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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