Global Variome shared LOVD

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Phenotype #0000359943 Individual ID 00475230 Associated disease diabetes Phenotype details see paper; ..., 6.8y-deceased; birth weight Z−3.07; 20w-diabetes; recurrent infections, IgA deficiency; microcephaly; developmental delay; hip dislocation, muscle weakness, respiratory failure, seizures Diagnosis/Initial autoimmune diabetes Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 6.8y 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 2026-04-04 16:15:37 +02:00 (CEST) Date last edited N/A

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