Global Variome shared LOVD

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Phenotype #0000361370 Individual ID 00476696 Associated disease mitochondrial Diagnosis/Initial mitochondrial disease Diagnosis/Definite PEOB1 Phenotype details see paper; ..., no cardiomyopathy; no gastrointestinal anomalies; elevated lactic level acid; elevated creatine kinase level; ragged red fibers; mitochondrial myopathy; cranial MRI normal Inheritance Familial, autosomal recessive Age/Examination 17y (17 years) Age/Diagnosis - Age/Onset 5y 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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