Global Variome shared LOVD

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Phenotype #0000125413 Individual ID 00132011 Associated disease MDC Phenotype details Abnormality of the cerebral white matter (HP:0002500), elevated serum creatine phosphokinase (HP:0003236), muscle weakness (HP:0001324) (generalized) Diagnosis/Initial dystrophy, muscular, congenital Diagnosis/Definite MDC-1A Inheritance Familial, autosomal recessive Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Angela Gruber Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Jorge Oliveira Date created 2017-10-07 17:24:48 +02:00 (CEST) Date last edited N/A

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