Global Variome shared LOVD

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

Phenotype #0000156103 Individual ID 00035289 Associated disease ? Diagnosis/Initial - Diagnosis/Definite - Phenotype details MGZ #52450: suspected Becker-myotonia; MGZ #71657: Myotonia congenita Thomsen, muscle stiffness; MGZ #73330: son with myotonia congenita and unclassified variants in the CLCN1 gene; MGZ #65873: suspected myotonia congenita type Thomsen (autosomal-dominant) Inheritance Unknown Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Tumor/MSI - Diagnosis/Criteria - Owner name Andreas Laner Database submission license Creative Commons Attribution 4.0 International Created by Julia Lopez Date created 2015-04-02 13:01:39 +02:00 (CEST) Date last edited N/A

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.