Global Variome shared LOVD

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Phenotype #0000345963 Individual ID 00457499 Associated disease MTPD Phenotype details see paper; ..., 7m-deceased (sudden death fever,diarrhea); 38w+3-birth,weight 3,070 g; autopsy upper respiratory tract infection, liver/cardiac cell fat modification Diagnosis/Initial mitochondrial trifunctional protein deficiency Inheritance Familial, autosomal recessive Diagnosis/Definite MTPD1 Age/Examination 00y07m (7 months) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2024-11-13 17:15:25 +01:00 (CET) Date last edited N/A

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