Summative Diagnosis:
Cardiac phenotype: Heterotaxy with dextrocardia/mesocardia and congenital heart defects (CHD) such as transposition of the great arteries (TGA), superior-inferior ventricles, double outlet right ventricle (DORV), persistent truncus arteriosus (PTA) pulmonary atresia, tricuspid atresia, and atrioventricular septal defect (AVSD). HRHS suspected based on CT for 028-NB.
Noncardiac phenotype: Eye defect with anophthalmia/enophthalmia, preaxial digit duplication/polydactyly, duplex and cystic kidneys, cleft palate, eye defect,and intraurterine growth restriction.

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
0159	Biventricular, discordant atrioventricular connection
0184	Superior-inferior ventricles (upstairs-downstairs ventricles)
0190	Heterotaxy syndrome
0400	Tricuspid atresia
0500	Truncus arteriosus
0606	DORV + AVSD (AV canal)
1140	Common atrium
1300	Ventricular septal defect
1320	Ventricular septal defect, muscular
1610	Pulmonary stenosis
3804	Congenital heart disease
3983	{A,D,D}
4103	Polydactyly
4508	Polycystic kidney disease
4864	Anophthalmia
4876	Cleft palate
4877	Microphthalmia
4906	Non-cardiac abnormality