Global Variome shared LOVD

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

Phenotype #0000117268 Individual ID 00144528 Associated disease MD Phenotype details no contractures (-HP:0001371) muscle; calf hypertrophy (HP:0008981); macroglossia (HP:0000158); no respiratory involvement (-HP:0002086); no cardiac involvement (-HP:0001627) Diagnosis/Initial dystrophy, muscular Inheritance Unknown Diagnosis/Definite LGMD-2C Age/Examination 6y (6 years) Age/Diagnosis - Age/Onset 4y 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 2017-12-17 21:23:37 +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.