Summative Diagnosis:
Cardiovascular Phenotype: Aortic arch anomalies such as right aortic arch (RAA) and aberrant major artery branching from aorta, biventricular hypertrophy.
Noncardiovascular Phenotype: Oligodactyly, kinked tail, anophthalmia, short snout, agnathia, low set ears, and kidney agenesis. Chiari malformation seen in one mutant.

Phenotypic Similarity to Human Syndrome: Chiari malformation

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
2700 Abnormal aortic arch
2720 Right aortic arch
4100 Skeletal, skin, muscle anomaly
4170 Hand and/or foot anomaly
4333 Chiari malformation
4503 Agenesis of kidneys
4864 Anophthalmia
4906 Non-cardiac abnormality
7505 Biventricular hypertrophy