Syndrome of partial aniridia, cerebellar ataxia, and mental retardation--Gillespie syndrome.
Here we describe a 5-year-old girl with Gillespie syndrome of cerebellar ataxia, partial aniridia, and mental retardation. The Gillespie syndrome probably is an autosomal recessive trait.
Nevin
N C
NC
Department of Medical Genetics, Queen's University of Belfast, Northern Ireland.
Lim
J H
JH
D015783:Aniridia / Q000235:genetics*; D002524:Cerebellar Ataxia / Q000235:genetics*; D002675:Child, Preschool; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D013577:Syndrome