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GENATLAS PHENOTYPE

last update : 04-03-2009

Symbol	GLSPS
Location	11p13
Name	Gillespie syndrome
Corresponding gene	PAX6
Main clinical features	aniridia, cerebellar ataxia, and mental deficiency fixed dilated pupils in a hypotonic infant (the iris abnormality specific and pathognomonic for Gillespie syndrome) on slit lamp examination, the pupil border of the iris typically shows a scalloped 'festooned' edge with tufts of iris strands extending onto the anterior lens surface at regular intervals on brain MRI, cerebellar hypoplasia, particularly of the vermis
Genetic determination	autosomal recessive
Function/system disorder	neurology
	eye
Type	disease

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