Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000125397 Individual ID 00103774 Associated disease MDC Phenotype details hyperintensity of cerebral white matter on MRI (HP:0030890), joint contracture (HP:0001371), EMG: myopathic abnormalities (HP:0003458) Diagnosis/Initial dystrophy, muscular, congenital Diagnosis/Definite MDC-1A Inheritance Familial, autosomal recessive Age/Examination 00y18m (18 months) Age/Diagnosis - Age/Onset 00y03m 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 16:04:59 +02:00 (CEST) Date last edited N/A

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