Global Variome shared LOVD

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

Phenotype #0000333307 Individual ID 00444050 Associated disease DMD Phenotype details no calf hypertrophy; Gower sign positive; normal CPK level; no feeding difficulties; toe walking; poor walking/running ability; no difficulty climbing stairs; no waddling feet/gait; no seizure; no muscle weakness; no skinny legs/arms; no intellectual disability; no delayed speech; not hyperactive Diagnosis/Initial DMD Inheritance Familial, autosomal recessive Diagnosis/Definite LGMDR6 Age/Examination 8y6m (8 years, 6 months) Age/Onset - Phenotype/Onset - Age/Diagnosis - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2023-12-11 17:21:28 +01:00 (CET) Date last edited N/A

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