Global Variome shared LOVD

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

Phenotype #0000332170 Individual ID 00442823 Associated disease NMD Diagnosis/Initial SEPN1-related myopathy Diagnosis/Definite CMYP3 Phenotype details motor function measurement 20/32 score 0.729; ambulant; respiratory support (predicted forced expiratory volume in first second 0.42,  difference in vital capacity between sitting and supine position -0.10); left ventricular ejection fraction 0.58; global longitudinal strain -0.27.6; QRS fragmentation Inheritance Familial, autosomal recessive Age/Examination 13y (13 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2023-11-23 22:55:55 +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.