Gillespie's syndrome (incomplete aniridia, cerebellar ataxia and oligophrenia).
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.
D002524:Cerebellar Ataxia / Q000150:complications / Q000235:genetics*; D002675:Child, Preschool; D004596:Electroretinography; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000150:complications / Q000235:genetics*; D007498:Iris / Q000002:abnormalities*; D007499:Iris Diseases / Q000150:complications / Q000235:genetics*; D013577:Syndrome