Summative Diagnosis:
Mutant Type 1:
Cardiovascular phenotype: Double outlet right ventricle (DORV) with subaortic ventricular septal defect (VSD), and ventricular hypertrophy
Noncardiovascular phenotype: Craniofacial defect with micrognathia, cleft palate, and eye defects.

Mutant Type 2:
Cardiovascular phenotype: Biventricular hypertrophy
Noncardiovascular phenotype: Curly tail, low set ears, cleft palate, and micrognathia, and eye defects such as microphthalmia, enopthalmia, and anophthalmia

Phenotypic Similarity to Human Syndrome: Cardiac hypertrophy (Cardiomyopathy)

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
3608 Left ventricular hypertrophy
3609 Right ventricular hypertrophy
4163 Micrognathia
4906 Non-cardiac abnormality
7505 Biventricular hypertrophy
0600 Double outlet right ventricle
1300 Ventricular septal defect
4864 Anophthalmia
4876 Cleft palate
4877 Microphthalmia