Phenotype #0000349953

Individual ID	00462454
Associated disease	HTX
Phenotype details	see paper; ..., 9m-deceased; situs solitus ; normal position organs; taussig-bing anomaly, transposition great arteries, subpulmonary ventricular septal defect, atrial septal defect, double outlet right ventricle, side-by-side great arteries, yocoub type E coronaries, hypoplastic transverse aortic arch, preductal coA, patent ductus arteriosus dependent lower body perfusion, restrictive patent arterial duct;
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