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 InternationalCreative Commons License
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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