Global Variome shared LOVD

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

Phenotype #0000125356 Individual ID 00103631 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), scoliosis (HP:0002650), 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 - Age/Diagnosis - Age/Onset - Phenotype/Onset 15d 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 2017-04-14 20:06:08 +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.