Global Variome shared LOVD

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

Phenotype #0000061018 Individual ID 00081451 Associated disease myotonia congenita (AR) Phenotype details Myotonia with warm-up phenomenonMarked Marked muscular hypertrophy Myotonia EMG: myotonic runs Percussion myotonia Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 10y (10 years) Age/Diagnosis 14y Age/Onset - Phenotype/Onset - Protein - Owner name Carmen Palma Database submission license No license selected Created by Carmen Palma Date created 2016-10-11 18:29:47 +02:00 (CEST) Date last edited 2016-10-14 16:52:07 +02:00 (CEST)

Screenscraping/webscraping (interacting with LOVD using scripts to download data) is strictly prohibited.
Use our APIs to retrieve data.