Global Variome shared LOVD

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Phenotype #0000346132 Individual ID 00457673 Associated disease MTPD Phenotype details see paper; ..., lower limb weakness Diagnosis/Initial mitochondrial trifunctional protein deficiency Inheritance Familial, autosomal recessive Diagnosis/Definite MTPD2 Age/Examination - Age/Diagnosis - Age/Onset 08y Phenotype/Onset lower limb weakness Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2024-11-15 20:10:41 +01:00 (CET) Date last edited N/A

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