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Aniridia-cerebellar ataxia-intellectual disability syndrome
rareAniridia-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.
- Identifiers
- MONDO:0008795 OMIM:206700Orphanet:1065
- 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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