{"symbol":"CECR","synonyms":["CES"],"name":"cat eye syndrome chromosome region","description":"Cat eye syndrome (CES) is characterized clinically by the combination of coloboma of the iris and anal atresia with fistula, downslanting palpebral fissures, preauricular tags and/or pits, frequent occurrence of heart and renal malformations, and normal or near-normal mental development. A small supernumerary chromosome (smaller than chromosome 21) is present, frequently has 2 centromeres, is bisatellited, and represents an inv dup(22)(q11).[supplied by OMIM, Aug 2009]","ncbiEntrezGeneId":1055,"ncbiEntrezGeneUrl":"http://www.ncbi.nlm.nih.gov/gene/1055","proteins":[],"hgncRootFamilies":[]}