Summative Diagnosis:
Mutant Phenotype 1: Cardiovascular defects: Pulmonary atresia with ventricular septal defect (VSD), atrioventricular septal defect (AVSD), major aortopulmonary collateral arteries (MAPCA), coronary fistula, dual inferior vena cavae (IVC) and single lung lobe. Non-cardiovascular defects: Micrognathia, hypotelorism, duplex kidney, polydactyly/syndactyly/oligodactyly, and tracheoesphageal fistula (TEF).
Mutant Phenotype 2: Kidney agenesis, craniofacial anomalies.

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
0110 Dextrocardia
1081 Tetralogy of Fallot with pulmonary atresia and mapcas
1120 Complete common atrioventricular canal
1124 Balanced complete atrioventricular canal
1125 Unbalanced complete atrioventricular canal, left dominant
1140 Common atrium
2230 Coronary fistula (arterio-venous or arterio-cameral)
2810 Inferior vena cava anomaly
3100 Congenital coronary anomaly
3804 Congenital heart disease
3986 {A,D,S}
4044 VATERS/VACTERLS Syndrome
4103 Polydactyly
4163 Micrognathia
4170 Hand and/or foot anomaly
4174 Syndactyly
4202 Tracheoesophageal fistula
4232 Airway malformation
4235 Pulmonary malformation
4338 Holoprosencephaly
4503 Agenesis of kidneys
4863 Opthalmic malformation
4874 Mouth malformation