Phenotype #0000112030

Individual ID 00139282
Associated disease BMD/DMD
Diagnosis/Initial dystrophy, muscular, Becker/Duchenne type (BMD/DMD)
Diagnosis/Definite -
Phenotype details elevated serum CPK (HP:0003236) 14,640; no intellectual disability (-HP:0001249)
Inheritance Familial, X-linked recessive
Age/Examination -
Age/Diagnosis -
Age/Onset 6y
Phenotype/Onset motor development delay; positive Gowers sign; calf hypertrophy; reduced reflexes in lower limbs
Protein unknown
Owner name Rosário dos Santos
Database submission license No license selected
Created by Rosário dos Santos
Date created 2007-10-03 17:39:48 +02:00 (CEST)
Date last edited 2012-11-02 20:03:52 +01:00 (CET)

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