Global Variome shared LOVD

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

Phenotype #0000303967 Individual ID 00411940 Associated disease myotonia Phenotype details myotonia; EMG myotonia; no warm-up phenomenon/paradoxical myotonia; myopathy low limbs, myopathy facial muscles; no muscle weakness; generalized muscle hypertrophy; myopathy painful; episodic paralysis Diagnosis/Initial non-dystrophic myotonia Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination - Age/Onset 8y 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 2022-06-20 13:19:24 +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.