智力发育障碍，X 连锁，综合征 28
基因病名称(英)
Intellectual developmental disorder, X-linked, syndromic 28
关键字(英)
Mental retardation
别名(英)
Agenesis of the corpus callosum with impaired intellectual development, ocular coloboma and micrognathia,Agenesis of the corpus callosum with mental retardation, ocular coloboma and micrognathia,Mental retardation, X-linked, syndromic 28
别名
胼胝体发育不全伴智力发育受损、眼缺损和小颌畸形、胼胝体发育不全伴智力发育迟缓、眼缺损和小颌畸形、智力低下、X 连锁综合征 28
统计
reviewed:1; annotated:0
交叉引用
300472,C1845446,D038901,D061085
描述(英)
A mental retardation syndrome characterized by agenesis of the corpus callosum, coloboma of the iris and optic nerve, severe retrognathia, and intellectual deficit. Mental retardation is defined by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period.
描述
一种以胼胝体发育不全、虹膜和视神经缺损、严重的下颌后缩和智力缺陷为特征的智力低下综合征。智力发育迟缓的定义是与适应行为障碍相关的一般智力功能明显低于平均水平，并在发育期间表现出来。