Gillespie syndrome

Also known as: Gillespie syndrome

Aniridia, ataxia and intellectual disability.

Medical specialty: Neurology
Subspecialty: Neurology / Neurogenetics; Ophthalmology
Sex & age distribution: Male: affected; Female: affected equally; Children: yes, congenital
Gene(s) involved: ITPR1

Etiology & mechanism

ITPR1 mutations.

Gene(s) involved (1)

ITPR1

Symptoms & signs (3)

cerebellar ataxiaintellectual disabilitypartial aniridia

SyndromeScope — educational reference. Content is model-generated and not clinically verified; always confirm against OMIM, Orphanet and GeneReviews before clinical use.