Summative Diagnosis:
Cardiovascular phenotypes: Atrioventricular septal defect (AVSD), muscular ventricular septal defect (mVSD), and ventricular myocardial non-compaction

Noncardiovascular phenotype: Micrognathia, cleft palate, micropthalmia, and hypoplastic thymus.

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
1100 Atrioventricular canal (endocardial cushion defect)
1300 Ventricular septal defect
1320 Ventricular septal defect, muscular
1802 Excessive myocardial trabeculation or noncompaction
4163 Micrognathia
4609 Velocardiofacial syndrome
4876 Cleft palate
4877 Microphthalmia