Global Variome shared LOVD

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Phenotype #0000349951 Individual ID 00462452 Associated disease HTX Phenotype details see paper; ..., right isomerim; midline liver, absent spleen, bilateral right atrial appendages; unbalanced complete atrioventricular canal with hypoplastic left ventricle, double outlet right ventricle with l-malposed great arteries, common atrium, moderate subvalvular pulmonary stenosis, small patent ductus arteriosus, interrupted inferior vena cava, bilateral superior vena cava, pulmonary veins connected to right-sided atrial mass; Diagnosis/Initial heterotaxy Inheritance Familial, autosomal recessive Diagnosis/Definite HTX14 Age/Examination - Age/Diagnosis - 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 2025-02-10 14:19:55 +01:00 (CET) Date last edited N/A

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