Global Variome shared LOVD

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Phenotype #0000326674 Individual ID 00436496 Associated disease ? Diagnosis/Initial encephalomyopathy Diagnosis/Definite COXPD50 Phenotype details see paper; ..., dyskinetic cerebral palsy, partial agenesis of the corpus callosum, signs of mitochondrial myopathy Inheritance Familial, autosomal recessive Age/Examination 25y (25 years) 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 2023-09-18 22:23:37 +02:00 (CEST) Date last edited N/A

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