Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000352722 Individual ID 00467515 Associated disease BMD/DMD Diagnosis/Initial BMD/DMD Diagnosis/Definite DMD Phenotype details motor milestone delay, frequent falls, progressive weakness, Gowers' sign; CK level 11,000; no cardiac anomalies Inheritance Familial, X-linked recessive Age/Examination 14y (14 years) Age/Diagnosis - Age/Onset 3y Phenotype/Onset - Protein - Owner name Marcela Elizabeth Orozco Orozco Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2025-10-14 10:44:05 +02:00 (CEST) Date last edited N/A

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