Global Variome shared LOVD

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Phenotype #0000349952 Individual ID 00462453 Associated disease HTX Phenotype details see paper; ..., situs ambiguus; isolated dextrocardia; lleft transposition great arteries, large perimembranous ventricular septal defect, pulmonary atresia; mild dysmorphic features, retrognathia, depressed nasal bridge; midsternal scars previous surgeries, pectus excavatum; acquired hypothyrodisim 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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