Phenotype #0000231944

Individual ID 00306096
Associated disease MD
Phenotype details max milestone 6y5m-walk; contractures ankle; elevated CK level (highest 349 U/L); ECG normal; UCG-normal; EMG-myogenic; muscle biopsy 6.4y-dystrophic
Diagnosis/Initial Emery-Dreifuss muscular dystrophy
Inheritance Isolated (sporadic)
Diagnosis/Definite EDMD2
Age/Examination 6y5m (6 years, 5 months)
Age/Diagnosis -
Age/Onset 1y6m
Phenotype/Onset -
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 2020-07-07 09:28:36 +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.
  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.