Global Variome shared LOVD

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

Phenotype #0000333321 Individual ID 00444064 Associated disease DMD Phenotype details no calf hypertrophy; Gower sign positive; elevated CPK level (17333 U/L); no feeding difficulties; no toe walking; poor walking/running ability; poor ability climbing stairs; no waddling feet/gait; no seizure; no muscle weakness; no skinny legs/arms; normal developmental milestones; no intellectual disability; no delayed speech; not hyperactive Diagnosis/Initial DMD Inheritance Unknown Diagnosis/Definite DMD Age/Examination 3y (3 years) Age/Onset - Phenotype/Onset - Age/Diagnosis - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2023-12-11 17:21:28 +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.