Phenotype #0000235511

Individual ID 00310208
Associated disease RMD2;LGMD1C
Phenotype details Muscle weakness (HP:0001324), Progressive muscle weakness (HP:0003323),Difficulty climbing stairs (HP:0003551), Difficulty walking (HP:0002355), Toe walking (HP:0040083), Frequent falls (HP:0002527), Myalgia (HP:0003326), Gowers sign (HP:0003391), Hyperlordosis (HP:0003307), Calf muscle pseudohypertrophy (HP:0003707), Flexion contracture (HP:0001371), Elevated serum creatinine kinase (HP:0003236), EMG abnormality (HP:0003457)
Diagnosis/Initial DMD/ LGMD
Inheritance Isolated (sporadic)
Diagnosis/Definite LGMD1C
Age/Examination 12y (12 years)
Age/Diagnosis 12y
Age/Onset 05y
Phenotype/Onset Gowers sign (HP:0003391)
Protein -
Owner name Mehwish Zehravi
Database submission license No license selected
Created by Mehwish Zehravi
Date created 2020-09-09 18:40:29 +02:00 (CEST)
Date last edited 2020-09-11 10:23:41 +02:00 (CEST)

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