X连锁智力障碍，Stocco Dos Santos型
X-linked intellectual disability, Stocco Dos Santos type
ORPHA:85288疾病
定义 英文原文（暂无中文）
X-linked intellectual disability, Stocco Dos Santos type is characterised by severe intellectual deficit with hyperactivity, language delay, congenital hip luxation, short stature, kyphosis and recurrent respiratory infections. Aggressive behaviour and frequent epileptic seizures may also be present. The syndrome has been described in four boys from the same family. Transmission is X-linked and is caused by mutations in the KIAA1202 gene, localised to the Xp11.2 region.
基本事实
- 遗传方式
- X 连锁隐性
- 发病年龄
- 儿童期
- 患病率
- <1 / 1 000 000
相关基因 1
| 基因 | 名称 | 关联类型 |
|---|---|---|
| SHROOM4 | shroom family member 4 | Disease-causing germline mutation(s) in |
临床表型 17
常见 79–30%14
- 先天性双侧髋关节脱位 HP:0008780
- 语言发育迟缓 HP:0000750
- 鼻梁塌陷 HP:0005280
- 内眦赘皮 HP:0000286
- 多毛症；女性多毛症 HP:0001007
- 多动症 HP:0000752
- 重度智力障碍 HP:0010864
- 脊柱后凸畸形（驼背） HP:0002808
- 反复呼吸道感染 HP:0002205
- 癫痫发作 HP:0001250
- 身材矮小 HP:0004322
- 小于胎龄儿 HP:0001518
- 斜视 HP:0000486
- 马蹄内翻足 HP:0001762
偶见 29–5%3
- 语言缺失 HP:0001344
- 白内障 HP:0000518
- 血清5-羟色胺（血清素）水平升高 HP:0003144
外部标识与链接
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本页数据来源
- 疾病定义、同义词、基因、表型、流行病学：Orphanet（CC BY 4.0）
- 中文病名：Orphanet 中文包，冻结于 2020-06-01
- 表型中文标签：HPO 简体中文翻译（CHPO 上游成果）