Phenotype #0000125376

Individual ID 00103726
Associated disease MDC
Phenotype details elevated serum creatine phosphokinase (HP:0003236), hyperintensity of cerebral white matter on MRI (HP:0030890), joint contracture (HP:0001371), scoliosis (HP:0002650), inability to walk (HP:0002540), EMG: myopathic abnormalities (HP:0003458), decreased nerve conduction velocity (HP:0000762)
Diagnosis/Initial dystrophy, muscular, congenital
Diagnosis/Definite MDC-1A
Inheritance Familial, autosomal recessive
Age/Examination 06y (6 years)
Age/Diagnosis -
Age/Onset 00y00m00d
Phenotype/Onset -
Protein -
Owner name Jorge Oliveira
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Jorge Oliveira
Date created 2017-04-17 17:07:40 +02:00 (CEST)
Date last edited N/A

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