Global Variome shared LOVD

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Phenotype #0000325484 Individual ID 00435287 Associated disease MD Phenotype details elevated CK/CK-MB level; hypertrophy gastrocnemius; cognitive disorder Diagnosis/Initial muscular dystrophy Inheritance Familial, X-linked recessive Diagnosis/Definite - Age/Examination 2y (2 years) Age/Diagnosis - Age/Onset 2y 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 2023-06-28 09:19:17 +02:00 (CEST) Date last edited N/A

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