Global Variome shared LOVD

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Phenotype #0000359920 Individual ID 00475206 Associated disease ? Diagnosis/Initial hypomyelinating leukodystrophy, epileptic encephalopathy Diagnosis/Definite - Phenotype details see paper; ..., terminated pregnancy Inheritance Familial, autosomal recessive Age/Examination - Age/Diagnosis - Age/Onset <0d Phenotype/Onset - Protein - Tumor/MSI - Diagnosis/Criteria - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2026-04-03 18:19:38 +02:00 (CEST) Date last edited N/A

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