Global Variome shared LOVD

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

Phenotype #0000117281 Individual ID 00144541 Associated disease MD Phenotype details mild severity; contractures (HP:0001371) muscle; calf hypertrophy (HP:0008981); macroglossia (HP:0000158); 16y-onset respiratory involvement (HP:0002086); 20y-onset cardiac problems (HP:0001627); 25y-loss ability to walk (HP:0006957) Diagnosis/Initial dystrophy, muscular Inheritance Unknown Diagnosis/Definite - Age/Examination 34y (34 years) Age/Diagnosis - Age/Onset 4y 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 2017-12-17 21:23:37 +01:00 (CET) Date last edited N/A

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