Global developmental delay with lissencephaly,
pachygyria or polymicrogyria, and hypotonia are typical. Seizures have been
reported. Colobomata affect the iris but also may involve the retina and the
optic nerve. These may be the only features distinguishing this syndrome from
Noonan syndrome. Hypertelorism, ptosis, prominent epicanthic folds,
thickened, edematous eyelids, and heterochromia of the iris are further
ophthalmologic features. Broad nasal bridge, long philtrum, thin upper lip,
macrostomia, webbed neck, and short stature are other morphologic features.
Some patients present with ventricular septal defect.