Global Variome shared LOVD

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Phenotype #0000359944 Individual ID 00475231 Associated disease diabetes Phenotype details see paper; ..., 12y-deceased; birth weight Z−3.04; 61w-diabetes; recurrent infections, myelodysplastic syndrome; microcephaly; developmental delay; triple X syndrome, insulin resistance, muscle weakness, dysmorphic features, growth retardation, diabetic nephropathy Diagnosis/Initial autoimmune diabetes Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 12y (12 years) 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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