Global Variome shared LOVD

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Phenotype #0000258083 Individual ID 00362713 Associated disease MLYCDD Phenotype details see paper; ..., respiratory distress, metabolic acidosis, hypoglycemia, hypotonia, seizures Diagnosis/Initial MLYCDD Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination - Age/Diagnosis 8d 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 2021-04-23 09:47:05 +02:00 (CEST) Date last edited N/A

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