Global Variome shared LOVD

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

Phenotype #0000231931 Individual ID 00306083 Associated disease MD Phenotype details max milestone 3y-sit aided; no contractures; elevated CK level (highest 898 U/L); ECG normal; UCG-normal; EMG-myogenic; muscle biopsy 3y-dystrophic, inflammatory change Diagnosis/Initial LMNA-related congenital muscular dystrophy Inheritance Isolated (sporadic) Diagnosis/Definite CMD Age/Examination 3y (3 years) Age/Diagnosis - Age/Onset 6m Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International 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.