OBO ID: DOID:0111578 |
Term Name: | Gillespie syndrome | Search Ontology: | |
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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) | ||
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Ontology: | Human Disease ( DOID:0111578 ) |
OTHER Gillespie syndrome PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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