Summative Diagnosis:
Mutant Type 1:
Cardiac phenotype: Pulmonary atresia, ventricular septal defect (VSD) and major aortopulmonary collateral arteries (MAPCA)
Noncardiac phenotype: Facial cleft, micrognathia

Mutant Type 2:
Cardiac phenotype: Biventricular hypertrophy

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
1000 Pulmonary atresia congenital
1300 Ventricular septal defect
2771 Multiple major aortopulmonary collateral arteries (mapcas)
4163 Micrognathia
7504 Biventricular hypertrophy