Global Variome shared LOVD

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Phenotype #0000345962 Individual ID 00457498 Associated disease MTPD Phenotype details see paper; ..., 3y-deceased (fever half a day; sleepiness, diminished speech, progressive disturbance of consciousness for 1 day; respiratory weakness for 30 min); 39w+2-birth, weight 3,990 g; weakness in both lower limbs, poor swallowing function Diagnosis/Initial mitochondrial trifunctional protein deficiency Inheritance Familial, autosomal recessive Diagnosis/Definite MTPD1 Age/Examination 03y (3 years) 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 17:08:38 +01:00 (CET) Date last edited N/A

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