Search Ontology:
Human Disease

Gillespie syndrome

Term ID
DOID:0111578
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. (2)
References
Ontology
Human Disease   ( DOID:0111578 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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