Global Variome shared LOVD

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Phenotype #0000319158 Individual ID 00428247 Associated disease DD Phenotype details see paper; ..., died 1y9m; global growth delay, persistent vomiting; hyperkalemia, hyponatremia, high level of creatine kinase, adrenal cortical hyperplasia Diagnosis/Initial global growth delay Inheritance Familial, autosomal recessive Diagnosis/Definite DMD;GKD;AHC Age/Examination 01y09m (1 year, 9 months) Age/Diagnosis 00y00m48d 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 2022-12-25 11:49:26 +01:00 (CET) Date last edited N/A

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