X连锁智力障碍，Pai型
X-linked intellectual disability, Pai type
ORPHA:85322疾病
定义 英文原文（暂无中文）
A rare X-linked syndromic intellectual disability characterized by global developmental delay and severe intellectual disability, seizures, and recurrent lower respiratory tract infections, resulting in premature death in affected males. Additional reported manifestations include mild dysmorphic facial features (such as epicanthic folds, high nasal bridge, or small mouth), gait disturbances, brisk tendon reflexes, delayed bone age, and tapering fingers. No evident heterozygous manifestation has been reported in females.
基本事实
- 遗传方式
- X 连锁隐性
- 发病年龄
- 儿童期、婴儿期
- 患病率
- <1 / 1 000 000
临床表型 18
极常见 99–80%4
- 全面发育迟缓 HP:0001263
- 重度智力障碍 HP:0010864
- 反复呼吸道感染 HP:0002205
- 癫痫发作 HP:0001250
常见 79–30%2
- 语言发育迟缓 HP:0000750
- 胎儿宫内发育迟缓 HP:0001511
偶见 29–5%12
- 隐睾 HP:0000028
- 骨成熟延迟 HP:0002750
- 内眦赘皮 HP:0000286
- 步态异常 HP:0001288
- 睾丸鞘膜积液 HP:0000034
- 肌张力增高 HP:0001276
- 腹股沟疝 HP:0000023
- 小口畸形 HP:0000160
- 鼻梁突出 HP:0000426
- 招风耳 HP:0000411
- 痉挛性四肢瘫 HP:0002510
- 锥形指 HP:0001182
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）