Global Variome shared LOVD

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Phenotype #0000222673 Individual ID 00289039 Associated disease ? Diagnosis/Initial - Diagnosis/Definite GKD, AHC, DMD Phenotype details see paper; ..., 36d-difficulty to feed, vomiting, weight loss; similarly affected brother died at 7m Inheritance Familial, autosomal recessive Age/Examination - Age/Diagnosis - 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 2020-02-25 21:38:13 +01:00 (CET) Date last edited N/A

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