Gillespie syndrome (DOID:0111578)
Alliance: disease page
Synonyms: aniridia, cerebellar ataxia and mental deficiency; aniridia-cerebellar ataxia-intellectual disability syndrome; GLSP
Alt IDs: OMIM:206700, MESH:C536370, ORDO:1065, UMLS_CUI:C0431401
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.