Global Variome shared LOVD

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Phenotype #0000346034 Individual ID 00457570 Associated disease ? Diagnosis/Initial newborn screening Diagnosis/Definite MTPD1 Phenotype details newborn screening; family history of sibling who died (49d) of lactic acidemia during neonatal period Inheritance Familial, autosomal recessive Age/Examination - Age/Diagnosis 26d Age/Onset - Phenotype/Onset - Protein - Tumor/MSI - Diagnosis/Criteria - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2024-11-14 16:02:37 +01:00 (CET) Date last edited N/A

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