Global Variome shared LOVD

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Phenotype #0000125389 Individual ID 00103760 Associated disease MDC Phenotype details hyperintensity of cerebral white matter on MRI (HP:0030890), joint contracture (HP:0001371, inability to walk (HP:0002540), EMG: myopathic abnormalities (HP:0003458) Diagnosis/Initial dystrophy, muscular, congenital Diagnosis/Definite MDC-1A Inheritance Familial, autosomal recessive Age/Examination 02y (2 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 2017-04-18 22:15:58 +02:00 (CEST) Date last edited N/A

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