Global Variome shared LOVD

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Phenotype #0000361376 Individual ID 00476702 Associated disease mitochondrial Diagnosis/Initial mitochondrial disease Diagnosis/Definite ECHS1D Phenotype details see paper; ..., no cardiomyopathy; no gastrointestinal anomalies; normal lactic level acid; normal creatine kinase level; cranial MRI T2-weighted hyperintensities in the putamen and caudate nucleus Inheritance Familial, autosomal recessive Age/Examination 10y (10 years) Age/Diagnosis - Age/Onset 0.3y Phenotype/Onset - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2026-04-16 19:04:47 +02:00 (CEST) Date last edited N/A

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