Summative Diagnosis:
Mutant Type 1:
Cardiovascular phenotypes: outflow anomaly comprising of bicuspic aortic or pulmonary valves.

Noncardiovascular phenotype: cleft palate, hypoplastic thymus, enlarged adrenal gland


Mutant Type 2:
Noncardiovascular phenotype: Hydrocephalus with possible cerebral arteriovenous malformation - (Vein of Galen)