Phenotype #0000115950

Global Variome shared LOVD

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

Individual ID	00034423
Associated disease	DMD
Phenotype details	hypotonia, developmental delay; FTT, raised lactate/transaminases; elevated serum CPK (HP:0003236) 18061
Diagnosis/Initial	dystrophy, muscular, Duchenne type (DMD)
Inheritance	Isolated (sporadic)
Diagnosis/Definite	dystrophy, muscular, Duchenne type (DMD)
Age/Examination	02y (2 years)
Age/Onset	-
Phenotype/Onset	-
Age/Diagnosis	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2017-11-30 13:04:07 +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.