General Notes (Mutant 2):
Summative Diagnosis:
Cardiovascular phenotypes: Atrioventricular septal defect (AVSD), left ventricular hypertrophy, right sided aortic arch, vascular ring and other aortic arch anomalies
Noncardiovascular phenotype: Craniofacial defects including micrognathia, midline facial cleft, bilateral anopthalmia, low set ears, hypoplastic thymus, renal anomalies including duplex kidneys and hydroureter
Phenotypic Similarity to Human Syndrome:
DiGeorge syndrome