The diagnosis is mainly based on the clinical
findings of microcephaly, mild mental retardation, and chorioretinal
dysplasia. Other features may include frontal bossing, lissencephaly, and
lacunar retinal depigmentation. Microphthalmia, microcornea, and ocular
pterygium have been described in one family. One reported family also had
polycystic kidney disease, which was not thought to be associated with this
syndrome.