Phenotype #0000288825

Individual ID 00395626
Associated disease LGMD
Phenotype details lower limbs proximal MRC 2, lower limbs distal MRC 5, upper limbs proximal MRC 2, upper limbs distal MRC 5, CK level raised x2, scapular winging, FVC 0.45, 33y-wheelchair bound; ankle contracture, calf hypertrophy, scoliosis, hyperlordosis
Diagnosis/Initial LGMD, infantile onset
Inheritance Familial, autosomal recessive
Diagnosis/Definite LGMDR21
Age/Examination 46y (46 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

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