Global Variome shared LOVD

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Phenotype #0000170808 Individual ID 00225702 Associated disease ? Diagnosis/Initial neurogenetic disorder Diagnosis/Definite - Phenotype details see paper; …, neurodegeneration with marked white matter changes with high lactate peak in the brain, consistent with mitochondrial encephalopathy Inheritance Familial, autosomal recessive Age/Examination - Age/Diagnosis - Age/Onset - 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 2019-02-22 18:37:24 +01:00 (CET) Date last edited N/A

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