Aplastic anemia-intellectual disability-dwarfism syndrome
ORPHA:611216疾病暂无中文名
定义 英文原文（暂无中文）
A rare constitutional aplastic anemia characterized by aplastic anemia, intellectual disability, short stature and microcephaly. Skin pigmentation or cafe au lait spots are often present. Majority of the patients present global developmental delay with impaired motor skills, learning disabilities, speech delay whereas some patients also may have behavioral problems including autistic features. Patients often develop premalignant myelodysplastic syndromes or leukemia.
别名
AMeD syndrome
基本事实
- 发病年龄
- 婴儿期、新生儿期
- 患病率
- <1 / 1 000 000
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；本条目在该版本中无中文名
- 表型中文标签：HPO 简体中文翻译（CHPO 上游成果）