| Phenotype | Macrocephaly, current head circumference > 95th percentile, current weight > 95th percentile, current height 95th percentile, developmental delay (at 8.5 years functions at a preschool level, full scale IQ is 58), seizures, cerebral atrophy (MRI showed diffuse atrophy especially of the frontal and parietal lobes with mild cerebellar and vermian atrophy). |