| Phenotype | Coarctation of aorta (status post repair), bicuspid aortic valve, bilateral cryptorchidism, primary hypospadias, inguinal hernia, widely-spaced nipples, short neck, three posterior and one anterior hair whorls, dysmorphic features including downslanting palpebral fissures, bilateral epicanthal folds, broad nose with smooth philtrum and thin vermilion border, ears with thickened helices, simple structure, low-set and posteriorly rotated, mild hypertelorism and strabismus. Cognitive function approximately that of a 2-year old; says 7 words, has 16 signs. Has hx of one seizure. Renal U/S normal, head CT normal, awake EEG normal. |