Global Variome shared LOVD

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

Phenotype #0000358721 Individual ID 00473926 Associated disease ? Diagnosis/Initial Isaac's syndrome Diagnosis/Definite - Phenotype details onset 11y with muscle cramps, stiffness and weakness, progressive; Delayed muscle relaxation; Myopia; Increased sweating; Mild muscle atrophy; Myokymia; EMG: neuromyotonia and myokymia. Inheritance Familial, autosomal recessive Age/Examination 16y (16 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Tumor/MSI - Diagnosis/Criteria - 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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