Global Variome shared LOVD

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Phenotype #0000125393 Individual ID 00103767 Associated disease MDC Phenotype details elevated serum creatine phosphokinase (HP:0003236), hyperintensity of cerebral white matter on MRI (HP:0030890), joint contracture (HP:0001371), inability to walk (HP:0002540), EMG: myopathic abnormalities (HP:0003458), scoliosis (HP:0002650) Diagnosis/Initial dystrophy, muscular, congenital Diagnosis/Definite MDC-1A Inheritance Familial, autosomal recessive Age/Examination 13y (13 years) Age/Diagnosis - Age/Onset 00y00m00d Phenotype/Onset - Protein - Owner name Jorge Oliveira Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Jorge Oliveira Date created 2017-04-19 11:24:46 +02:00 (CEST) Date last edited N/A

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