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
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