Phenotype #0000332028

Global Variome shared LOVD

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

Individual ID	00442681
Associated disease	NMD
Diagnosis/Initial	Limb girdle muscul weakness with cardiomyopathy
Diagnosis/Definite	-
Phenotype details	Proximal limb-girdle weakness in combination with longstanding cutaneous infections and inflammatory bowel disease; CK = 103 U/l. In addition dilated cardiomyopathy.
Inheritance	Familial, autosomal recessive
Age/Examination	38y (38 years)
Age/Diagnosis	-
Age/Onset	22y
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2023-11-23 18:48:51 +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.