Phenotype #0000331967

Global Variome shared LOVD

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

Individual ID	00442620
Associated disease	BTHLM
Diagnosis/Initial	Bethlem myopathy
Diagnosis/Definite	-
Phenotype details	CK <170 IU/L; MRI muscle typical; onset childhood; weakness proximal and distal UL, proximal LL; contractures elbows, wrists, interphalangeal; no scoliosis; hyper-keratosis; no entilatory insufficiency
Inheritance	Unknown
Age/Examination	-
Age/Diagnosis	65y
Age/Onset	-
Phenotype/Onset	weakness, contractures
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2023-11-23 09:55:12 +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.