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Gillespie syndrome

Go to external page http://purl.obolibrary.org/obo/DOID_0111578

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. [ http://purl.obolibrary.org/obo/ECO_0007645 ]

Term info

Label

Gillespie syndrome

Synonyms
  • GLSP
  • aniridia, cerebellar ataxia and mental deficiency
  • aniridia-cerebellar ataxia-intellectual disability syndrome
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disease_ontology

id

DOID:0111578