Global Variome shared LOVD

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

Phenotype #0000209373 Individual ID 00274430 Associated disease MD Phenotype details Predominant weakness of proximal and axial muscles, mild ptosis, elongated face, high arched palate, scoliosis and respiratory failure; muscle myopathic pattern with type I predominance; CK 40 IU/L; ECG or echo normal; familial Diagnosis/Initial muscular dystrophy Inheritance Familial, autosomal dominant Diagnosis/Definite - Age/Examination - Age/Diagnosis 22y Age/Onset 2y 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 2019-12-30 09:59:36 +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.