常染色体显性遗传原发性小头畸形
Autosomal dominant primary microcephaly
ORPHA:2514疾病亚型
定义 英文原文（暂无中文）
A rare, genetic, non-syndromic, developmental defect during embryogenesis malformation syndrome characterized by a congenital, non-progressive, occipitofrontal head circumference that is 2 or more standard deviations below the mean for age, gender and ethnicity which is associated with normal brain architecture and uncomplicated by other abnormalities. Borderline to moderate intellectual disability, as well as early psychomotor delay, may or may not be associated.
基本事实
- 遗传方式
- 常染色体显性
- 发病年龄
- 产前、婴儿期、新生儿期
相关基因 2
| 基因 | 名称 | 关联类型 |
|---|---|---|
| LMNB1 | lamin B1 | Disease-causing germline mutation(s) in |
| DPP6 | dipeptidyl peptidase like 6 | Disease-causing germline mutation(s) (loss of function) in |
临床表型 6
极常见 99–80%3
- 小头畸形 HP:0000252
- 身材矮小 HP:0004322
- 牙齿发育不全 HP:0009804
常见 79–30%1
- 交替性内斜视 HP:0001137
偶见 29–5%2
- 水平眼震 HP:0000666
- 招风耳 HP:0000411
外部标识与链接
OrphanetOMIM:156580OMIM:616311OMIM:617520MONDO:0007988GARD:3605ICD-10 Q02ICD-11 LA05.0ClinicalTrials.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）