Global Variome shared LOVD

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Phenotype #0000359947 Individual ID 00475234 Associated disease diabetes Phenotype details see paper; ..., birth weight Z−1.71; 21w-diabetes; raised immature granulocytes; developmental delay; muscle weakness, epilepsy, cholestasis and direct hyperbilirubinemia (resolved), atrial septal defect, congenital cataracts, sensorineural hearing loss Diagnosis/Initial autoimmune diabetes Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 8.7y 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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