Global Variome shared LOVD

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

Phenotype #0000125350 Individual ID 00103253 Associated disease MDC Phenotype details Infantile muscular hypotonia (HP:0008947), elevated serum creatine phosphokinase (HP:0003236), hyperintensity of cerebral white matter on MRI (HP:0030890), inability to walk (HP:0002540). Diagnosis/Initial dystrophy, muscular, congenital Diagnosis/Definite MDC-1A Inheritance Familial, autosomal recessive Age/Examination - Age/Diagnosis - Age/Onset 00y05m Phenotype/Onset - Protein - Owner name Jorge Oliveira Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Jorge Oliveira Date created 2017-04-12 13:54:00 +02:00 (CEST) Date last edited N/A

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