X连锁智力障碍，Siderius型
X-linked intellectual disability, Siderius type
ORPHA:85287疾病
定义 英文原文（暂无中文）
X-linked intellectual disability, Siderius type is characterised by mild to borderline intellectual deficit associated with cleft lip/palate. Preaxial polydactyly, large hands and cryptorchidism are sometimes present. The syndrome has been described in seven boys from two families. Transmission is X-linked and the syndrome is caused by mutations in the PHF8 gene, localised to the p11.21 region of the X chromosome.
基本事实
- 遗传方式
- X 连锁隐性
- 发病年龄
- 婴儿期、新生儿期
- 患病率
- <1 / 1 000 000
相关基因 1
| 基因 | 名称 | 关联类型 |
|---|---|---|
| PHF8 | PHD finger protein 8 | Disease-causing germline mutation(s) in |
临床表型 12
极常见 99–80%6
- 宽鼻尖 HP:0000455
- 上唇裂 HP:0000204
- 轻度智力障碍 HP:0001256
- 巨手 HP:0001176
- 长脸 HP:0000276
- 口面裂 HP:0000202
常见 79–30%2
- 隐睾 HP:0000028
- 睾丸体积过小 HP:0008734
偶见 29–5%4
- 后发际低 HP:0002162
- 轴前多指 HP:0001177
- 脊柱侧弯 HP:0002650
- 连眉 HP:0000664
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）