Global Variome shared LOVD

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Phenotype #0000349956 Individual ID 00462457 Associated disease HTX Phenotype details see paper; ..., situs inversus; right-sided stomach, midline liver, spleen not definitely visualized, mild right renal central pelvocaliectasis; double outlet right ventricle, complete atrioventricular canal, D malposed great vessels, moderate reverse oriented patent ductus arteriosus, interrupted inferior vena cava with azygous continuation to R superior vena cava, hepatic veins drain to left sided atrium 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 2025-02-10 14:22:36 +01:00 (CET)

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