Summative Diagnosis:
Mutant Type 1: Cardiac phenotype: Double outlet right ventricle (DORV), perimembranous ventricular septal defect (pmVSD), atrioventricular septal defect (AVSD), thickened atrioventricular and semilunar valves
Non-Cardiac phenotype: Excencephaly, kidney abnormalities including duplex kidney, hydronephrosis, cystic kidney

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
0600 Double outlet right ventricle
1100 Atrioventricular canal (endocardial cushion defect)
1310 Ventricular septal defect, membranous
4502 Hydronephrosis