Phenotype #0000333320

Individual ID 00444063
Associated disease DMD
Phenotype details calf hypertrophy; Gower sign positive; elevated CPK level (26568 U/L); no feeding difficulties; no toe walking; poor walking/running ability; poor ability climbing stairs; no waddling feet/gait; no seizure; muscle weakness; no skinny legs/arms; delayed developmental milestones; no intellectual disability; delayed speech; not hyperactive
Diagnosis/Initial DMD
Inheritance Familial, X-linked recessive
Diagnosis/Definite DMD
Age/Examination 3y (3 years)
Age/Onset -
Phenotype/Onset -
Age/Diagnosis -
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 2023-12-11 17:21:28 +01:00 (CET)
Date last edited N/A

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