Global Variome shared LOVD

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

Phenotype #0000054206 Individual ID 00074387 Associated disease MD Phenotype details symptomatic female; muscular biopsy compatible with dystrophinopathy; no mental retardation; raised CPK 15.000 UI/L Diagnosis/Initial BMD Inheritance Isolated (sporadic) Diagnosis/Definite - Age/Examination 23y (23 years) Age/Diagnosis 20y Age/Onset 3y Phenotype/Onset - Protein biopsy BMD Owner name Florencia Giliberto Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International Created by Florencia Giliberto Date created 2016-06-01 22:02:28 +02:00 (CEST) Date last edited 2018-11-24 15:14:37 +01:00 (CET)

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