Global Variome shared LOVD

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Phenotype #0000346175 Individual ID 00457726 Associated disease MTPD Phenotype details see paper; ..., 6d-deceased; no hypoparathyroidism; no peripheral neuropathy; maternal pregnancy no complications Diagnosis/Initial mitochondrial trifunctional protein deficiency Inheritance Familial, autosomal recessive Diagnosis/Definite MTPD1 Age/Examination - Age/Diagnosis - Age/Onset 2d Phenotype/Onset hypotonia, coma 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 17:08:42 +01:00 (CET) Date last edited N/A

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