Summative Diagnosis:
Heterotaxy including Situs inversus totalis
Cardiovascular Phenotype: Dextrocardia and and complex congenital heart defects associated with heterotaxy, including anomalous systemic venous return, atrioventricular septal defect (AVSD), right atrial isomerism (RAI), biventricular hypertrophy, and hypoplastic pulmonary artery. Also observed are mutants with situs inversus totatlis without congenital heart defects
Noncardiovascular Phenotype: Abnormal thoracic and abdominal organ situs anomalies, such as left lung isomerism, dextrogastria/levogastria, and dual inferior vena cava (IVC). A few mutants exhibited malaligned sternal vertebra, immotile airway cilia and craniofacial anomalies including micrognathia, cleft palate, duplex kidneys, and short snout

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
0100 Situs inversus totalis
0110 Dextrocardia
0190 Heterotaxy syndrome
1100 Atrioventricular canal (endocardial cushion defect)
2810 Inferior vena cava anomaly
2966 Hypoplastic main pulmonary artery
3608 Left ventricular hypertrophy
3609 Right ventricular hypertrophy
3817 Abdominal situs ambiguous (abdominal heterotaxy)
3974 {I,L,I}
3988 {A,L,L}
4100 Skeletal, skin, muscle anomaly
4163 Micrognathia
4200 Respiratory anomaly
4239 Left bronchial isomerism
4851 Kartagener syndrome (siewart syndrome)(primary ciliary dyskinesia)
4876 Cleft palate
4906 Non-cardiac abnormality
4907 Non-cardiac thoracic abnormality
7505 Biventricular hypertrophy