Global Variome shared LOVD

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

Phenotype #0000125352 Individual ID 00103255 Associated disease MDC Phenotype details Limb muscle weakness (HP:0003690), elevated serum creatine phosphokinase (HP:0003236), hyperintensity of cerebral white matter on MRI (HP:0030890), difficulty walking (HP:0002355) 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 feeding difficulties (HP:0011968), weak cry (HP:0001612), hypokinesia (HP:0002375) 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 15:41:32 +02:00 (CEST) Date last edited 2017-04-12 16:24:45 +02:00 (CEST)

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