Phenotype #0000348361

Global Variome shared LOVD

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

Individual ID	00460680
Associated disease	MD
Phenotype details	see paper; ..., 12y-deceased (cardiac arrest); gross motor delays, raised creatine kinase level; unusually rapid progression dilated cardiomyopathy
Diagnosis/Initial	-
Inheritance	Familial, X-linked
Diagnosis/Definite	DMD;MCLDS
Age/Examination	12y (12 years)
Age/Diagnosis	02y
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2025-01-29 12:04:56 +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.