Global Variome shared LOVD

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Phenotype #0000321849 Individual ID 00431244 Associated disease ? Diagnosis/Initial mitochondrial disease Diagnosis/Definite COXPD48 Phenotype details 3m-combined developmental disability, microcephaly, failure to thrive, recurrent increased lactate levels in plasma, muscular weakness, proximal accentuated, external ophthalmoplegia, convergence nystagmus, combined OXPHOS deficiency skeletal muscle Inheritance Familial, autosomal recessive Age/Examination 00y03m (3 months) 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 2023-02-04 22:10:31 +01:00 (CET) Date last edited N/A

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