Global Variome shared LOVD

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Phenotype #0000302529 Individual ID 00410424 Associated disease ? Diagnosis/Initial suspected mitochondriopathy Diagnosis/Definite COXPD23 Phenotype details see paper; ..., 5w-deceased, hypertrophic cardiomyopathy, failure to thrive, poor weight gain and feeding, concentric left ventricular hypertrophy, lactic acidosis Inheritance Familial, autosomal recessive Age/Examination 35d Age/Diagnosis - Age/Onset 28d 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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