Summative Diagnosis:
Mutant Type 1: Cardiovascular Phenotype: Complex congenital heart defects associated with heterotaxy, such as dextroversion with transposition of the great arteries (TGA), unbalanced atrioventricular ventricular septal defect (AVSD), muscular ventricular septal defects (mVSD), hypoplastic right ventricle (RV), common atrium, right aortic arch (RAA), right atrial isomerism, aberrant right subclavian artery, bilateral patent ductus arteriosus (PDA) forming vascular ring, superior-inferior ventricles, and total anomalous pulmonary venous return (TAPVR, intracardiac type)
Noncardiovascular Phenotype: Abnormal thoracic and abdominal organ situs anomalies, such as dextrogastria, right bronchial isomerism, polysplenia, left liver isomerism, inverted liver lobation, malaligned sternal vertebra, and hypoplastic spleen

Mutant Type 2:
Cardiovascular Phenotype: Persistent truncus arteriosus (PTA, Type 1), atrioventricular ventricular septal defect (AVSD), right aortic arch (RAA), and aberrant left subclavian artery forming vascular ring
Noncardiovascular Phenotype: growth retardation, microphthalmia, syndactyly, micrognathia, cleft palate, hypoplastic kidneys, lungs, and thymus

Phenotypic Similarity to Human Syndrome:
Mutant Type 1: Heterotaxy

Fyler Codes
The Fyler code developed by The Boston Children's Heart Foundation in Boston Children's Hospital provides a hierarchical clinical diagnosis of congenital cardiovascular defects and other disorders. These codes are used to delineate pathology in the mutant mouse models that parallel human disease and can be cross referenced to the International Pediatric and Congenital Cardiac Code (IPCCC) (http://www.ipccc.net/).

Fyler Code ID Code Description
1100 Atrioventricular canal (endocardial cushion defect)
2700 Abnormal aortic arch
2760 Vascular ring
4906 Non-cardiac abnormality
0184 Superior-inferior ventricles (upstairs-downstairs ventricles)
0190 Heterotaxy Syndrome
0700 D-loop transposition of the great arteries
1140 Common atrium
1300 Ventricular septal defect
1320 Ventricular septal defect, muscular
1821 Hypoplastic right ventricle (subnormal cavity volume)
2731 Aberrant right subclavian artery
4100 Skeletal, skin, muscle anomaly
4240 Right bronchial isomerism
4907 Non-cardiac thoracic abnormality
0510 Truncus arteriosus type i
2720 Right aortic arch
2730 Aberrant left subclavian artery
4170 Hand and/or foot anomaly
4174 Syndactyly