Version: 8.0.0
Date: Tue Jan 28 2025
Gillespie syndrome
DOID:0111578
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

Gillespie syndrome

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.
Synonyms
  • aniridia-cerebellar ataxia-intellectual disability syndrome
  • aniridia, cerebellar ataxia and mental deficiency
Cross References
Parent Terms
Child Terms
None
Sources of Associations

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      Associated Models

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