Global Variome shared LOVD

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Phenotype #0000345922 Individual ID 00457458 Associated disease MTPD Phenotype details see paper; ..., hepatic, coma, convulsion, developmental delay; lactic acidemia, liver dysfunction; developmental delay Diagnosis/Initial mitochondrial trifunctional protein deficiency Inheritance Familial, autosomal recessive Diagnosis/Definite MTPD2 Age/Examination - Age/Diagnosis - Age/Onset 00y09m Phenotype/Onset seizure, lactic acidosis Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2024-11-12 21:26:12 +01:00 (CET) Date last edited 2024-11-16 16:33:06 +01:00 (CET)

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