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Aniridia-cerebellar ataxia-intellectual disability syndrome

rare

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.

Causal genes
ITPR1
Also known as
Aniridia Cerebellar Ataxia Mental Deficiency · aniridia, cerebellar ataxia and mental deficiency · aniridia, cerebellar ataxia, and intellectual disability · aniridia, cerebellar ataxia, and mental retardation · GILLESPIE syndrome

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