Global Variome shared LOVD

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

Phenotype #0000210214 Individual ID 00275603 Associated disease ? Diagnosis/Initial multiple organ defects Diagnosis/Definite VCRL3 Phenotype details see paper; ...,, thoracic vertebral defect; hypoplastic mitral valve with borderline hypoplastic left ventricle, small bicuspid aortic valve and tubular hyperplasia of the left aortic arch with coarctation, anomalous origin of the left coronary artery from the right pulmonary artery; absent left kidney; bilateral shortening of humeri and femora; sacral dimple Inheritance Familial, autosomal recessive Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Tumor/MSI - Diagnosis/Criteria - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2020-01-11 09:04:48 +01:00 (CET) Date last edited 2020-12-02 09:39:10 +01:00 (CET)

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