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
Created by	Johan den Dunnen
Date created	2025-02-10 14:19:55 +01:00 (CET)
Date last edited	N/A

Global Variome shared LOVD