/aniridia - intellectual disability syndrome

aniridia - intellectual disability syndrome

Rare Disease

MONDO:0015199

Also Known As

Walker-Dyson syndromeWalker Dyson syndromeaniridia associated with intellectual disability and other eye abnormalitiesaniridia associated with mental retardation and other eye abnormalities

Definition

Aniridia-intellectual disability syndrome is an extremely rare autosomal dominant developmental defect of the eye described in several members of one family that is characterized by the association of moderate intellectual disability with aniridia, lens dislocation, optic nerve hypoplasia and cataracts. There have been no further descriptions in the literature since 1974.