Global Variome shared LOVD

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

Phenotype #0000125361 Individual ID 00103655 Associated disease MDC Phenotype details elevated serum creatine phosphokinase (HP:0003236), hyperintensity of cerebral white matter on MRI (HP:0030890), joint contracture (HP:0001371), scoliosis (HP:0002650), inability to walk (HP:0002540), EMG: myopathic abnormalities (HP:0003458) Diagnosis/Initial dystrophy, muscular, congenital Diagnosis/Definite MDC-1A Inheritance Familial, autosomal recessive Age/Examination - Age/Diagnosis - Age/Onset 00y00m00d Phenotype/Onset - Protein muscle, IHC for LAMA2, no expression Owner name Jorge Oliveira Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Jorge Oliveira Date created 2017-04-15 17:26:42 +02:00 (CEST) Date last edited 2019-08-02 19:23:04 +02:00 (CEST)

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.