Phenotype #0000092701

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00043931
Associated disease	DMD
Phenotype details	contractures (HP:0001371); no scoliosis (-HP:0002650); loss ability to walk (HP:0006957) 9-14y; cardiomyopathy (HP:0001638); no intellectual disability (-HP:0001249); restrictive lung disease (HP:0002091); CK level 1383
Diagnosis/Initial	dystrophy, muscular, Duchenne type (DMD)
Inheritance	Familial
Diagnosis/Definite	-
Age/Examination	40y (40 years)
Age/Onset	-
Phenotype/Onset	-
Age/Diagnosis	06y
Protein	-
Owner name	Manuel F. Mas Rodriguez
Database submission license
Created by	Manuel F. Mas Rodriguez
Date created	2015-05-12 16:00:54 +02:00 (CEST)
Date last edited	N/A

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