Summative Diagnosis:
Mutant Type 1:
Cardiovascular phenotypes: Double outlet right ventricle (DORV) with hypoplastic pulmonary artery, persistent truncus arteriosus (PTA), and atrioventricular septal defect (AVSD), small left ventricle (LV).

Noncardiovascular phenotype: Severe craniofacial defect with short snout, micrognathia, cleft lip and palate, hypoplastic thymus, hypoplastic lungs, renal anomalies, short gut, club limbs, bobtail, and syndatcyly.


Mutant Type 2:
Cardiovascular phenotypes: Hypoplastic left ventricle (LV), aortic atresia, and hypoplastic mitral, phenotypes consistent with hypoplastic left heart syndrome (HLHS).

Noncardiovascular phenotype: Severe craniofacial defect with short snout, micrognathia, cleft lip and palate, hypoplastic thymus, hypoplastic and accessory anterior lung lobes, renal anomalies, short gut, club limbs, bobtail, and syndatcyly.

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
1811	Hypoplastic left ventricle (subnormal cavity volume)
4163	Micrognathia
4170	Hand and/or foot anomaly
4174	Syndactyly
4401	Cleft palate and cleft lip
4512	Renal malformation
4875	Cleft lip
4876	Cleft palate
4906	Non-cardiac abnormality
4907	Non-cardiac thoracic abnormality
1100	Atrioventricular canal (endocardial cushion defect)
2966	Hypoplastic main pulmonary artery
500	Truncus arteriosus
600	Double outlet right ventricle
300	Hypoplastic left heart syndrome
320	Aortic atresia
1515	Hypoplastic mitral valve