Global Variome shared LOVD

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

Phenotype #0000125338 Individual ID 00103222 Associated disease MDC Phenotype details Elevated serum creatine phosphokinase (HP:0003236), muscular dystrophy (HP:0003560), hyperintensity of cerebral white matter on MRI (HP:0030890), delayed speech and language development (HP:0000750), recurrent pulmonary infections (HP:0006532). No head control Diagnosis/Initial dystrophy, muscular, congenital Diagnosis/Definite MDC-1A Inheritance Familial, autosomal recessive Age/Examination - Age/Diagnosis - Age/Onset 00y02m 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 2017-04-11 02:00:06 +02:00 (CEST) Date last edited 2019-08-02 19:23:04 +02:00 (CEST)

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