Characterized by anomalies of the eye (high
myopia, iris coloboma, retinal detachment, chorioretinal atrophy, poorly
differentiated maculae, cataract, glaucoma), the face (macrocephaly, flat
nasal bridge, true hypertelorism, telecanthus, antimongoloid slanting of the
palpebral fissures, prominent eyebrows), the ears (moderate-to-severe
sensorineural deafness), the skeleton (epiphyseal dysplasia of the femoral
heads), and the kidneys (structural abnormalities, proteinuria, hematuria,
aminoaciduria). Psychomotor development may range from moderately delayed to
normal.