Phenotype #0000288824

Individual ID 00395625
Associated disease LGMD
Phenotype details lower limbs proximal MRC 2, lower limbs distal MRC 5, upper limbs proximal MRC 3-4, upper limbs distal MRC 5, CK level normal, scapular winging, FVC >0.80, 22y-wheelchair bound; elbow contracture, myopathic facies, arched palate
Diagnosis/Initial LGMD, congenital onset
Inheritance Familial, autosomal recessive
Diagnosis/Definite LGMDR21
Age/Examination 24y (24 years)
Age/Diagnosis -
Age/Onset 00y-10y
Phenotype/Onset -
Protein -
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2021-12-08 15:59:29 +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.
  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.