Global Variome shared LOVD

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Phenotype #0000349950 Individual ID 00462451 Associated disease HTX Phenotype details see paper; ..., situs ambiguus; dextrocardia, lung left isomerism, polysplenia; auricular septum defect, partial anomalous pulmonary venous return, bilateral superior vena cava, ventricular septum defect (repaired), mild tricuspid, mitral valve insufficiency; recurrent respiratory infections and asthma; high forehead; relatively small posteriorly rotated ears; right eye prominent (mild exophthalmos); bilateral 5th finger clinodactyly; mild pectus excavatum; pulmonary hypertension and features; right mainstem bronchus bronchomalacia; bilateral grade 2 hydronephrosis 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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