Phenotype #0000333265

Global Variome shared LOVD

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

Individual ID	00444008
Associated disease	DMD
Phenotype details	elevated CK level 9603 (IU/L); 10y-wheelchair bound; difficulty in walking, tiptoe walking, Gowers sign, gross motor skill delay, speech delay, scoliosis
Diagnosis/Initial	DMD
Inheritance	Unknown
Diagnosis/Definite	DMD
Age/Examination	10y (10 years)
Age/Onset	5y
Phenotype/Onset	-
Age/Diagnosis	-
Protein	-
Owner name	Rusdy Ghazali Malueka
Database submission license
Created by	Johan den Dunnen
Date created	2023-12-11 09:22:03 +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.