Global Variome shared LOVD

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Phenotype #0000342323 Individual ID 00453666 Associated disease metabolic syndrome Phenotype details see paper; ..., newborn screening tandem mass spectrometry dried blood spots Diagnosis/Initial inborn error of metabolism Inheritance Familial, autosomal recessive Diagnosis/Definite HHYRPRO1 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 2024-09-11 15:27:41 +02:00 (CEST) Date last edited N/A

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