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Aniridia-cerebellar ataxia-intellectual disability syndrome

Disease Export to PDF
Name:
Aniridia-cerebellar ataxia-intellectual disability syndrome
Description:
A rare, congenital, neurological disorder characterized by the association of partial bilateral aniridia with non-progressive cerebellar ataxia, and intellectual disability.
ORPHAcode:
1065
Synonyms:
Gillespie syndrome
XREF(s):
Orphanet
OMIM
ICD-10
Analyte(s):
ITPR1
PAX6
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14