环状1号染色体综合征

定义 英文原文（暂无中文）

Ring chromosome 1 syndrome is an autosomal anomaly characterized by variable clinical features, most commonly including significant intrauterine and postnatal growth failure, developmental delay, intellectual disability, microcephaly, and dysmorphic facial features. Some less frequent clinical features are dysgenesis of corpus callosum, atrial septal defect, rocker bottom feet and clinodactyly.

别名

r(1)综合征

基本事实

发病年龄

新生儿期

患病率

<1 / 1 000 000

临床表型 13

外部标识与链接