Global Variome shared LOVD

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Phenotype #0000346179 Individual ID 00457730 Associated disease MTPD Phenotype details see paper; ..., progressive dyspnoea, difficulty swallowing preceede 6d by fever, abdominal pain, vomiting, diarrhoea, increased muscle weakness Diagnosis/Initial mitochondrial trifunctional protein deficiency Inheritance Familial, autosomal recessive Diagnosis/Definite MTPD2 Age/Examination 20y (20 years) Age/Diagnosis - Age/Onset - Phenotype/Onset progressive dyspnoea, difficulty swallowing Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2024-11-16 17:28:04 +01:00 (CET) Date last edited N/A

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