Occasional eye defects include strabismus, blepharoptosis, myopia, anisocoria, heterochromia iridis, unilateral microphthalmia, retinal detachment, cataracts, chorioretinitis, and epibulbar tumors. Exostoses on the nasal bridge. Valgus deformities of the halluces and feet and clinodactyly may occur. Hydrocephaly, lissencephaly, and partial agenesis of the corpus callosum. Brain dysgenesis and cerebral cortex calcification may be associated.
Seizures are common.
Retarded motor development is constant. About half of the affected infants have mental retardation. The mode of inheritance is largely unexplained but listed in OMIM in the autosomal dominant catalog. They usually involve the thorax and upper abdomen. Less commonly occurring tumors include monomorphic adenoma of the parotid gland, yolk sac tumor of the testis, and papillary adenoma of the epidymidis.