Global Variome shared LOVD

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Phenotype #0000345926 Individual ID 00457462 Associated disease MTPD Phenotype details see paper; ..., 36w-birth, weight 2600 g (25-50th), length 48.5 cm (50-75th ), OFC 33 cm (50th); 1d-chest retractions with grunting sound, severe metabolic acidosis; hypotension, oliguric renal failure Diagnosis/Initial mitochondrial trifunctional protein deficiency Inheritance Familial, autosomal recessive Diagnosis/Definite MTPD2 Age/Examination - 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 09:41:35 +01:00 (CET) Date last edited N/A

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