Phenotype #0000125374

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00103668
Associated disease	MDC
Phenotype details	elevated serum creatine phosphokinase (HP:0003236), hyperintensity of cerebral white matter on MRI (HP:0030890), scoliosis (HP:0002650), EMG: myopathic abnormalities (HP:0003458)
Diagnosis/Initial	dystrophy, muscular, congenital
Diagnosis/Definite	MDC-1A
Inheritance	Familial, autosomal recessive
Age/Examination	05y (5 years)
Age/Diagnosis	-
Age/Onset	00y04m
Phenotype/Onset	-
Protein	-
Owner name	Jorge Oliveira
Database submission license
Created by	Jorge Oliveira
Date created	2017-04-15 23:11:43 +02:00 (CEST)
Date last edited	2017-04-15 23:42:11 +02:00 (CEST)

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