Global Variome shared LOVD

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Phenotype #0000302523 Individual ID 00410418 Associated disease ? Diagnosis/Initial suspected mitochondriopathy Diagnosis/Definite COXPD23 Phenotype details see paper; ..., hypertrophic cardiomyopathy, mild intellectual disability, fatigability, limited vision, lactic acidosis Inheritance Familial, autosomal recessive Age/Examination 14y (14 years) Age/Diagnosis - Age/Onset 10y 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 2022-05-26 09:28:08 +02:00 (CEST) Date last edited N/A

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