Global Variome shared LOVD

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

Phenotype #0000332015 Individual ID 00442668 Associated disease NMD Diagnosis/Initial Myotonia, elbow and hipcontractures, cardiomyopathy Diagnosis/Definite - Phenotype details Myotonia, elbow and hipcontractures, facial weakness, cardiomyopathy, dysmorphic features; EMG: myotonic discharges; CK slightly increased Inheritance Familial, autosomal recessive Age/Examination 15y (15 years) Age/Diagnosis - Age/Onset 2y Phenotype/Onset - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2023-11-23 18:48:51 +01:00 (CET) Date last edited N/A

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