Summative Diagnosis:
Cardiovascular phenotypes: Overriding aorta/Double outlet right ventricle (DORV) with atrioventricular (AVSD) or ventricular septal defects (VSD), right aortic arch, vascular ring.

Noncardiovascular phenotype: Mutants are runted, with hypoplastic thymus, craniofacial defects including microphthalmia, micrognathia, and cleft palate, and kidney defects such as hydronephrosis, duplex kidney, and glomerular cysts.

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 Codes Code Description
1300 Ventricular septal defect
1432 Overriding aortic valve
2720 Right aortic arch
2760 Vascular ring
4163 Micrognathia
4502 Hydronephrosis
4508 Polycystic kidney disease
4876 Cleft palate
4877 Microphthalmia
4906 Non-cardiac abnormality
600 Double outlet right ventricle
606 DORV + AVSD (AV canal)