Global Variome shared LOVD

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

Phenotype #0000153660 Individual ID 00205483 Associated disease EDMD Phenotype details proportionate short stature, facial dysmorphism, pulmonary valvular stenosis, thoracic scoliosis, brachydactyly, pectus deformities, genital abnormalities Diagnosis/Initial Emery-Dreifuss muscular dystrophy Inheritance Familial, X-linked recessive Diagnosis/Definite EDMD-6 Age/Examination - Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2015-06-20 21:47:18 +02:00 (CEST) Date last edited N/A

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