震颤-眼震-十二指肠溃疡综合征
Tremor-nystagmus-duodenal ulcer syndrome
ORPHA:3350疾病
定义 英文原文(暂无中文)
Tremor-nystagmus-duodenal ulcer syndrome is a rare hyperkinetic movement disorder characterized by mild to severe, progressive essential tremor, nystagmus (principally horizontal), duodenal ulceration and a narcolepsy-like sleep disturbance. Refractive errors and cerebellar signs, such as gait ataxia and adiadochokinesia, may be associated. There have been no further descriptions in the literature since 1976.
别名
Neuhauser-Daly-Magnelli综合征
基本事实
- 发病年龄
- 新生儿期
- 患病率
- <1 / 1 000 000
临床表型 4
极常见 99–80%3
- 运动异常 HP:0100022
- 十二指肠溃疡 HP:0002588
- 眼球震颤 HP:0000639
常见 79–30%1
- 共济失调 HP:0001251
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)