Aniridia-cerebellar ataxia-intellectual disability syndrome

Disease Term Disease ID Gene Symbol Classification References Source
ANIRIDIA CEREBELLAR ATAXIA MENTAL DEFICIENCY
MESH:C536370
ITPR1 Unknown — CTD
ANIRIDIA-CEREBELLAR ATAXIA-INTELLECTUAL DISABILITY SYNDROME
1065MONDO:0008795
ITPR1 Unknown
27108797 27108798 28698159 30249237 31340402 33747042 33949769 37705153
ClinGen Orphanet
PAX6 Unknown
17148041 17595013
GWAS catalog Orphanet