Human genes for Gillespie syndrome
Gillespie syndrome [DOID:0111578]
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 ITPR1 on chromosome 3p26.1.
Synonyms: Gillespie syndrome, DOID:0111578, Gillespie disease, Gillespie disorder, Gillespie syndromes ...