Global Variome shared LOVD

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Phenotype #0000325518 Individual ID 00435322 Associated disease IDDM2 Phenotype details Neonatal insulin-dependent diabetes mellitus, Insulin-resistant diabetes mellitus, Small for gestational age, Motor delay, Absent speech, Intellectual disability, Abnormality of movement, Short stature, Increased serum lactate, Elevated circulating creatine kinase concentration, Rhabdomyolysis, Involuntary movements, Dystonia, Hypertonia, Restlessness Diagnosis/Initial - Inheritance Isolated (sporadic) Diagnosis/Definite - Age/Examination 13y (13 years) Age/Diagnosis - Age/Onset 00y Phenotype/Onset - Protein - Owner name Andreas Laner Database submission license Creative Commons Attribution 4.0 International Created by Andreas Laner Date created 2023-07-03 16:51:17 +02:00 (CEST) Date last edited 2023-07-07 15:00:14 +02:00 (CEST)

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