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aniridia - intellectual disability syndrome

Disease Summary
Associated Targets (0)

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Mondo Description Aniridia-intellectual disability syndrome is an extremely rare autosomal dominant developmental defect of the eye described in several members of one family that is characterized by the association of moderate intellectual disability with aniridia, lens dislocation, optic nerve hypoplasia and cataracts. There have been no further descriptions in the literature since 1974.
Mondo Term and Equivalent IDs
MONDO:0015199:  aniridia - intellectual disability syndrome
GARD:0005530: 
MESH:C536568: 
Orphanet:1068: 
UMLS:C2931243: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)
No novelty measurements found