Summative Diagnosis:
Cardiovascular Phenotype: Persistent truncus arteriosus (PTA), aortic arch anomalies (interrupted aortic arch (IAA), right aortic arch (RAA), vascular ring), atrioventricular septal defect, and biventricular hypertrophy
Noncardiovascular Phenotype: Anophthalmia, anencephaly, agnathia with proboscis, low set ears, microstomia (otocephaly), hypoplastic thymus, kidney defects with hydronephrosis, kidney cysts, omphalocoele

Phenotypic Similarity to Human Syndrome: DiGeorge syndrome, Otocephaly

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
0500 Truncus arteriosus
1250 Interrupted aortic arch
2700 Abnormal aortic arch
2720 Right aortic arch
2760 Vascular ring
3608 Left ventricular hypertrophy
3609 Right ventricular hypertrophy
4404 Omphalocele
4502 Hydronephrosis
4610 DiGeorge syndrome
4864 Anophthalmia
4906 Non-cardiac abnormality
7505 Biventricular hypertrophy