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cat-eye syndrome

Disease Summary
Associated Targets ()

Mondo Description Cat eye syndrome (CES) is a rare chromosomal disorder with a highly variable clinical presentation. Most patients have multiple malformations affecting the eyes (iris coloboma), ears (preauricular pits and/or tags), anal region (anal atresia), heart and kidneys. Intellectual disability is usually mild or borderline normal.
Mondo Term and Equivalent IDs
MONDO:0007276:  cat-eye syndrome
GARD:0000026: 
MESH:C535918: 
NCIT:C75477: 
Orphanet:195: 
SCTID:26445008: 
UMLS:C0265493: