Abstract
Two sisters presenting with a Gillespie's syndrome are reported. This autosomal recessive syndrome is characterized by a circumpupillary aplasia of the iris, non-progressive cerebellar ataxia and oligophrenia.
MeSH terms
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Cerebellar Ataxia / complications
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Cerebellar Ataxia / genetics*
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Child, Preschool
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Electroretinography
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Female
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Humans
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Intellectual Disability / complications
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Intellectual Disability / genetics*
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Iris / abnormalities*
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Iris Diseases / complications
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Iris Diseases / genetics*
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Syndrome