Global Variome shared LOVD

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Phenotype #0000349949 Individual ID 00462450 Associated disease HTX Phenotype details see paper; ..., situs ambiguus; complete reversal with levocardia; left isomerism, levocardia, large atrial septal defect, interrupted inferior vena cava, bilateral superior vena cava, dilated coronary sinus; hydronephrosis; cyanosis; abnormality prenatal developmental birth; down slanting palpebral fissures; low set ears, micrognathia 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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