Global Variome shared LOVD

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

Phenotype #0000357309 Individual ID 00472499 Associated disease ? Diagnosis/Initial acute rhabdomyolysis Diagnosis/Definite - Phenotype details see paper; ..., recurrent episodes acute rhabdomyolysis, black urine; raised creatine kinase (5,000 IU/L); longstanding history muscle fatigue/aching legs following vigorous activities; physical examination entirely normal. Inheritance Unknown Age/Examination 20y-29y 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 2026-02-20 15:25:15 +01:00 (CET) Date last edited N/A

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