Global Variome shared LOVD

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

Phenotype #0000358502 Individual ID 00473707 Associated disease MD Phenotype details Difficulty rising from seated position, climbing stairs & running; Prominent forehead; Muscle weakness, proximal, leg>arm; Lordosis, mild; Flat feet; Abnormal gait, mild; Prominent calves, mild. Elevated serum CK and EMG-NCV findings were compatible with irritable myopathic process at proximal and distal muscles Diagnosis/Initial muscular dystrophy Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 4y (4 years) 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 2026-03-06 17:24:40 +01:00 (CET) Date last edited N/A

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