Term Name:	Gillespie syndrome
Synonyms:	aniridia, cerebellar ataxia and mental deficiency, aniridia-cerebellar ataxia-intellectual disability syndrome, GLSP
Definition:	A syndrome characterized by iris hypoplasia, congenital hypotonia, cerebellar hypoplasia, variably cognitive impairment, and ataxia that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the ITPR1 gene on chromosome 3p26.1.
Ontology:	Human Disease [DOID:0111578]   ( DOID:0111578 )