Phenotype #0000164600

Individual ID 00216148
Associated disease EDMD
Phenotype details heart failure NYHA class 1, no LV dilation/hypokinesia, atrial dilation L/R; 22y-atrial standstill; 19y-pacemaker (DDD)
Diagnosis/Initial Emery-Dreifuss muscular dystrophy
Inheritance Unknown
Diagnosis/Definite EDMD-1
Age/Examination -
Age/Onset 7y
Phenotype/Onset walking difficulties
Protein -
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2010-03-06 13:14:26 +01:00 (CET)
Date last edited 2013-02-01 19:44:12 +01:00 (CET)

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.
  Powered by LOVD v.3.0 Build 30b
LOVD software ©2004-2024 Leiden University Medical Center
Database contents © by their respective submitters and curators
 There are currently no updates.