[Gillespie 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, non progressive cerebellar ataxia and oligophrenia.
D002524:Cerebellar Ataxia / Q000150:complications / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D004596:Electroretinography; D005128:Eye Diseases / Q000235:genetics*; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000150:complications / Q000235:genetics*; D007498:Iris / Q000002:abnormalities*; D013577:Syndrome
Gillespie-Syndrom (inkomplette Aniridie, zerebellare Ataxie und oligophrenie).