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

• GARD:13
• MESH:C536370
• OMIM:206700
• ORDO:1065
• SNOMEDCT_US_2023_03_01:253176002
• UMLS_CUI:C0431401

Ontology

Human Disease   ( DOID:0111578 )