Global Variome shared LOVD

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Phenotype #0000350340 Individual ID 00464278 Associated disease MD Phenotype details see paper; ..., no hospitalisation neonatal pathology; delayed motor development; no large joint contractures; still ambulamt; no intellectual disability; creatine kinase level 1872 U/L; MRI brain periventricular leukopathy; Diagnosis/Initial muscular dystrophy Inheritance Familial, autosomal recessive Diagnosis/Definite LGMDR23 Age/Examination - Age/Diagnosis 13y Age/Onset 1d 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 2025-02-24 19:36:55 +01:00 (CET) Date last edited 2025-02-24 19:45:44 +01:00 (CET)

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