Global Variome shared LOVD

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

Phenotype #0000125239 Individual ID 00102440 Associated disease MDC Phenotype details ventilatory support, scoliosis, contractures, 8y-enteral feeding, palpitations, pulmonary hypertention; no mental retardation; stand(s); wheelchair bound Diagnosis/Initial dystrophy, muscular, congenital Diagnosis/Definite MDC-1A Inheritance Familial, autosomal recessive Age/Examination - Age/Diagnosis - Age/Onset <7d Phenotype/Onset - Protein IHC no LAMA2 Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2010-04-11 22:50:18 +02:00 (CEST) Date last edited 2019-08-02 19:23:04 +02:00 (CEST)

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