Phenotype #0000334268

Global Variome shared LOVD

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

	Curator: Global Variome, with Curator vacancy

Individual ID	00445016
Associated disease	BTHLM
Diagnosis/Initial	Bethlem myopathy
Diagnosis/Definite	BTHLM1
Phenotype details	-
Inheritance	Familial, autosomal dominant
Age/Examination	-
Age/Diagnosis	15y
Age/Onset	04y
Phenotype/Onset	-
Protein	-
Owner name	Victor Morel
Database submission license	No license selected
Created by	Victor Morel
Date created	2023-12-29 16:43:06 +01:00 (CET)
Date last edited	2024-01-04 13:53:26 +01:00 (CET)

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.