Global Variome shared LOVD

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

Phenotype #0000092839 Individual ID 00043881 Associated disease DMD Phenotype details confirmatory test DNA; scoliosis (HP:0002650); loss ability to walk (HP:0006957) 9-14y; contractures (HP:0001371); elevated serum CPK (HP:0003236) 7167; no cardiomyopathy (-HP:0001638); intellectual disability (HP:0001249); no restrictive lung disease (-HP:0002091) Diagnosis/Initial dystrophy, muscular, Duchenne type (DMD) Inheritance Isolated (sporadic) Diagnosis/Definite - Age/Examination 15y (15 years) Age/Onset - Phenotype/Onset - Age/Diagnosis 10y Protein - Owner name Manuel F. Mas Rodriguez Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2015-05-12 16:00:54 +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.