Global Variome shared LOVD

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

Phenotype #0000125358 Individual ID 00103633 Associated disease MDC Phenotype details elevated serum creatine phosphokinase (HP:0003236), muscular dystrophy (HP:0003560), inability to walk (HP:0002540), hyperintensity of cerebral white matter on MRI (HP:0030890), feeding difficulties (HP:0011968), joint contracture (HP:0001371), respiratory insufficiency due to muscle weakness (HP:0002747) Diagnosis/Initial dystrophy, muscular, congenital Diagnosis/Definite MDC-1A Inheritance Familial, autosomal recessive Age/Examination 04y (4 years) Age/Diagnosis - Age/Onset 00y02m Phenotype/Onset - Protein - Owner name Jorge Oliveira Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Jorge Oliveira Date created 2017-04-14 20:58:00 +02:00 (CEST) Date last edited N/A

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