Global Variome shared LOVD

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

Phenotype #0000358398 Individual ID 00473603 Associated disease MD Phenotype details onset in late childhood; Increased serum creatine kinase; Joint contractures; Rigid spine; Limited range of neck, thoracic and lumbar motion Diagnosis/Initial muscular dystrophy Inheritance Familial, X-linked Diagnosis/Definite - Age/Examination 11y (11 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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