Phenotype #0000334263

Global Variome shared LOVD

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

Individual ID	00445011
Associated disease	BTHLM
Diagnosis/Initial	Bethlem myopathy
Diagnosis/Definite	BTHLM1
Phenotype details	congenital feet deformity walking difficulties at 47yo
Inheritance	Familial, autosomal recessive
Age/Examination	49y (49 years)
Age/Diagnosis	49y
Age/Onset	47y
Phenotype/Onset	-
Protein	-
Owner name	Victor Morel
Database submission license	No license selected
Created by	Victor Morel
Date created	2023-12-29 15:53:44 +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.