B细胞免疫缺陷-肢体异常-泌尿生殖器畸形综合征
B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome
ORPHA:567502疾病
定义 英文原文（暂无中文）
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by almost complete lack of B-cells and severe hypogammaglobulinemia, anomalies of the hands and feet, urogenital malformations, and characteristic facial dysmorphism (including microcephaly, highly arched eyebrows, hypoplastic alae nasi, and micrognathia). Most patients are developmentally normal, although moderate mental retardation has also been described.
别名
霍夫曼综合征（甲状腺功能减退性肌病）
基本事实
- 遗传方式
- 常染色体显性
- 发病年龄
- 产前
- 患病率
- <1 / 1 000 000
相关基因 1
| 基因 | 名称 | 关联类型 |
|---|---|---|
| TOP2B | DNA topoisomerase II beta | Disease-causing germline mutation(s) in |
外部标识与链接
OrphanetOMIM:609296MONDO:0035454MONDO:12243MONDO:35454ICD-10 Q87.8ICD-11 LD2F.1YClinicalTrials.gov 检索
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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）