| Phenotype | Aqueductal stenosis (hydrocephalus, absent septum pellucidum, dysgenesis of posterior corpus callosum, dolicocehaly, fibrotic, but not entirely closed anterior fontanelleat 19 mos); partial complex seizures; facial dysmorphism: high forehead and prominent occiput, short nose with upturned-nares, epicanthal folds, large mouth, somewhat elongated philtrum and thin upper lip, broad nasal bridge, mild bilateral ptosis; developmental delay; temper tantrums and episodes of head-banging (19 mos). |