SMARCA2-related blepharophimosis-intellectual disability syndrome
ORPHA:637013疾病暂无中文名
定义 英文原文（暂无中文）
A rare, genetic, syndromic intellectual disability disorder characterized by global developmental delay, often with severe hypotonia and limited mobility, intellectual disability (mild to severe) with absent or significantly impaired speech and behavioral problems. Craniofacial features include blepharophimosis, epicanthal folds, sparse eyebrows and eyelashes, broad nasal bridge, short nose with downturned tip, open mouth with thin upper vermillion, and abnormal ears.
基本事实
- 遗传方式
- 常染色体显性
- 发病年龄
- 青少年期、儿童期、婴儿期
- 患病率
- <1 / 1 000 000
相关基因 1
| 基因 | 名称 | 关联类型 |
|---|---|---|
| SMARCA2 | SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 | Disease-causing germline mutation(s) in |
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）