Global Variome shared LOVD

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

Phenotype #0000154538 Individual ID 00206668 Associated disease - Phenotype details cardiac arrest, ventricular fibrillation, short stature, scolliosis, broad forehead, low-set ears, mandibular micrognathia, clinodadtyly, hyperkalemia,LQT, long Quc interval, U wave, polymorphic ventricular tachycardia. muscle biopsy: tubular aggregates. Diagnosis/Initial - Inheritance - Diagnosis/Definite - Age/Examination - Age/Diagnosis 34y Age/Onset 8y Phenotype/Onset periodic paralysis Protein - Owner name Ikuko Takeda Database submission license No license selected Created by Ikuko Takeda Date created 2013-05-22 12:31:07 +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.