Phenotype #0000334266

Individual ID 00445014
Associated disease BTHLM
Diagnosis/Initial Bethlem myopathy
Diagnosis/Definite BTHLM1
Phenotype details difficulties to run during childhood; 55y-difficulties to walk
Inheritance Unknown
Age/Examination -
Age/Diagnosis 55y
Age/Onset 08y
Phenotype/Onset -
Protein -
Owner name Victor Morel
Database submission license No license selected
Created by Victor Morel
Date created 2023-12-29 16:19:54 +01:00 (CET)
Date last edited 2024-01-04 13:38:00 +01:00 (CET)

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.
  Powered by LOVD v.3.0 Build 30b
LOVD software ©2004-2024 Leiden University Medical Center
Database contents © by their respective submitters and curators
 There are currently no updates.