/aniridia-cerebellar ataxia-intellectual disability syndrome

aniridia-cerebellar ataxia-intellectual disability syndrome

Rare Disease

MONDO:0008795

Also Known As

Aniridia Cerebellar Ataxia Mental DeficiencyGILLESPIE syndromeGLSPGillespie syndromeaniridia, cerebellar ataxia and mental deficiencyaniridia, cerebellar ataxia, and intellectual disabilityaniridia, cerebellar ataxia, and mental retardation

Definition

Aniridia-cerebellar ataxia-intellectual disability syndrome, also known as Gillespie syndrome, is a rare, congenital, neurological disorder characterized by the association of partial bilateral aniridia with non-progressive cerebellar ataxia, and intellectual disability.