OBO ID: DOID:0111578
Term Name: Gillespie syndrome Search Ontology:
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 ITPR1 on chromosome 3p26.1. (2)
References:
Ontology: Human Disease   (DOID:0111578)
OTHER Gillespie syndrome PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
ITPR1 Gillespie syndrome 206700
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None