X连锁智力障碍，Seemanova型
X-linked intellectual disability, Seemanova type
ORPHA:85323疾病
定义 英文原文（暂无中文）
X-linked intellectual disability, Seemanova type is characterised by microcephaly, intellectual deficit, growth retardation and hypogenitalism. It has been described in four boys from one family. A characteristic facies and ophthalmologic anomalies were also present and included microphthalmia, microcornea and cataract. Transmission is X-linked.
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
临床表型 16
常见 79–30%14
- 隐睾 HP:0000028
- 发育性白内障 HP:0000519
- 内眦赘皮 HP:0000286
- 眼距过宽 HP:0000316
- 性腺功能减退症 HP:0000135
- 肌肉组织发育不全 HP:0009004
- 智力障碍 HP:0001249
- 巨耳畸形 HP:0000400
- 小头畸形 HP:0000252
- 进行性痉挛 HP:0002191
- 下颌后缩 HP:0000278
- 癫痫发作 HP:0001250
- 骨骼肌萎缩 HP:0003202
- 小于胎龄儿 HP:0001518
偶见 29–5%2
- 心脏形态异常 HP:0001627
- 高腭 HP:0000218
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）