disease has basis in dysfunction of CECR cat-eye syndrome CAT eye syndrome CES 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. GARD:0000026 ICD10:Q92.8 Inv dup(22)(q11) MESH:C535918 MONDO:0007276 NCIT:C75477 OMIM:115470 Orphanet:195 SCTID:26445008 Schmid-Fraccaro syndrome UMLS:C0265493 chromosome 22 partial tetrasomy https://rarediseases.info.nih.gov/diseases/26/cat-eye-syndrome syndromic developmental defect of the eye syndromic anorectal malformation syndromic urogenital tract malformation complex chromosomal rearrangement syndromic renal or urinary tract malformation syndrome with a symptomatic strabismus