|OBO ID: DOID:0111578|
|Term Name:||Gillespie syndrome||Search Ontology:|
|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)|
|Ontology:||Human Disease (DOID:0111578)|
|is a type of:||
OTHER Gillespie syndrome PAGES
ZEBRAFISH MODELS No data available
PHENOTYPE No data available
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