| Phenotype | Skull deformity and lethargy noted at birth, CAT scan revealed a subarachnoid hemorrhage that did not require surgery, echo revealed a newborn murmur secondary to a PDA which resolved spontaneously, malrotation and lysis of Ladd bands surgically corrected, normal ganglion cells noted, tonic-clonic seizure disorder, ventriculomegaly, growth delay with relative macrocephaly, developmental delay, pinna posteriorly rotated with thickened helices, posterior helical longitudinal dimples and preauricular fistulae, hypertelorism, hypoplastic ala nasae, pupillary asymmetry with unequal pupillary margins, right crypthorchidism, hypotonia, self-stimulatory behaviors. |