Summative Diagnosis:

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

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
0510 Truncus arteriosus type i
2720 Right aortic arch
2730 Aberrant left subclavian artery
4170 Hand and/or foot anomaly
4174 Syndactyly