Intelligence varies from normal to delayed mental ability.
Macrocephaly, frontal bossing, delayed closure of fontanelles and metopic sutures, and nevus flammeus over the forehead. Iris coloboma, iris hypoplasia and heterochromia, retinal detachment, cataract, anterior chamber abnormalities, staphyloma, choroidal atrophy, disk abnormalities, exophthalmos, hypertelorism, and downslanted palpebral fissures. Corpus callosum agenesis. Proteinuria and aminoaciduria. Myopia and deafness.