Summative Diagnosis:
Different mutations causing two independently segregating phenotypes:
Mutant 1: Cardiovascular defects: Right aortic arch (RAA), hypoplastic ascending aorta and brachiocephalic arteries. Non-cardiac defects: Noncardiac defects: Craniofacial defects - proboscis, micrognathia, no oral cavity opening (no mouth), holosproencephaly
Mutant 2 (Lox gene mutation): Cardiovascular defects: Supravalvular aortic stenosis (narrowed ascending aorta), Thickened great artery walls, Biventricular hypertrophy, and Pulmonary artery branch stenosis. Non-cardiac defects: diaphragmatic hernia

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
1430	Aortic stenosis - supravalvar
1617	Pulmonary stenosis, bilateral branch pulmonary artery
2600	Systemic artery anomaly
2700	Abnormal aortic arch
2721	Right aortic arch with abnormal branching pattern
3608	Left ventricular hypertrophy
3609	Right ventricular hypertrophy
3804	Congenital heart disease
4031	Williams sydrome
4163	Micrognathia
4874	Mouth malformation
4907	Non-cardiac thoracic abnormality