Global Variome shared LOVD

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Phenotype #0000357303 Individual ID 00472493 Associated disease MD Phenotype details see paper; ..., uneventful pregnancy, normal delivery, 3m-head control, 5m-rolling over; 8m-regression head control/roll over, decreased spontaneous limb movements and reduced muscle tone; 10m-elevated creatine kinase level (5091 U/L), EMG myopathic Diagnosis/Initial muscular dystrophy Inheritance Familial, X-linked recessive Diagnosis/Definite DMD;SMA Age/Examination 01y07m (1 year, 7 months) 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 2026-02-18 14:44:13 +01:00 (CET) Date last edited 2026-02-20 15:13:48 +01:00 (CET)

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