Phenotype #0000303275

Individual ID 00411198
Associated disease DMD
Phenotype details Gowers sign (HP:0003391), generalized hypotoniav (HP:0001290), calf muscle pseudohypertrophy (HP:0003707), waddling gait (HP:0002515), elevated circulating creatine kinase concentration (HP:0003236)
Diagnosis/Initial muscular dystrophy
Inheritance Familial, X-linked recessive
Diagnosis/Definite DMD
Age/Examination 07y (7 years)
Age/Onset 02y
Phenotype/Onset lower limb muscle weakness (HP:0007340)
Age/Diagnosis 07y
Protein -
Owner name Detong Guo
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Detong Guo
Date created 2022-06-08 06:53:52 +02:00 (CEST)
Date last edited 2022-06-17 15:04:22 +02:00 (CEST)

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