Phenotype #0000034253

Individual ID 00046458
Associated disease LGMDR2;LGMD2B
Phenotype details muscular dystrophy (HP:0003560), elevated serum creatine phosphokinase (HP:0003236), lower limb muscle weakness (HP:0007340)
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite LGMD-2B
Age/Examination -
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Csilla Lazar
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2015-07-10 20:30:02 +02:00 (CEST)
Date last edited 2019-09-10 11:28:38 +02:00 (CEST)

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