有时同时有先天性白内障，还可有中枢神经异常，如小头畸形、头面异形、耳廓异常、泌尿系统畸形和智能迟缓等，近年对虹膜缺如合并肾母细胞瘤患儿的细胞遗传学研究表明，其均有11号染色体短臂移位或部分缺如的现象。
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