早期癫痫发作-远端肢体异常-面部畸形-全身性发育迟缓综合症
Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome
定义 英文原文（暂无中文）
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by variable developmental delay, intellectual disability, early-onset seizures, and facial dysmorphism (including arched eyebrows, long palpebral fissures, prominent nasal bridge, large ears, thin upper lip, and high arched palate). Other reported features are microcephaly, hypotonia, growth retardation, congenital heart defects, and malformations of the fingers and toes, as well as additional neurologic manifestations (such as ataxia or spastic quadriplegia). Brain imaging may show hypoplastic corpus callosum, white matter abnormalities, or cortical atrophy.
基本事实
- 遗传方式
- 常染色体隐性
- 发病年龄
- 婴儿期
- 患病率
- <1 / 1 000 000
相关基因 1
| 基因 | 名称 | 关联类型 |
|---|---|---|
| OTUD6B | OTU deubiquitinase 6B | Disease-causing germline mutation(s) (loss of function) in |
临床表型 53
极常见 99–80%2
- 重度智力障碍 HP:0010864
- 癫痫发作 HP:0001250
常见 79–30%37
- 语言缺失 HP:0001344
- 胼胝体发育缺陷/发育不全 HP:0007370
- 短头畸形 HP:0000248
- 拇指变宽 HP:0011304
- 体重下降 HP:0004325
- 下斜睑裂 HP:0000494
- 发育迟滞 HP:0001508
- 喂养困难 HP:0011968
- 枕骨扁平 HP:0005469
- 全身性肌张力减低 HP:0001290
- 全面发育迟缓 HP:0001263
- 听力受损 HP:0000365
- 高腭 HP:0000218
- 高拱形眉毛 HP:0002553
- 指间关节过伸 HP:0001187
- 行走不能 HP:0002540
- 胎儿宫内发育迟缓 HP:0001511
- 肢体关节挛缩 HP:0003121
- 长睫毛 HP:0000527
- 长脸 HP:0000276
- 睑裂增宽 HP:0000637
- 长人中 HP:0000343
- 低位耳 HP:0000369
- 巨耳畸形 HP:0000400
- 小头畸形 HP:0000252
- 重叠趾 HP:0001845
- 鼻梁突出 HP:0000426
- 下颌后缩 HP:0000278
- 骶骨浅窝 HP:0000960
- 脊柱侧弯 HP:0002650
- 短颈 HP:0000470
- 身材矮小 HP:0004322
- 马蹄内翻足 HP:0001762
- 锥形指 HP:0001182
- 薄上唇红 HP:0000219
- 巨脑室 HP:0002119
- 宽鼻 HP:0000445
偶见 29–5%13
- 外耳发育缺陷/不全 HP:0008772
- 细长指(趾) HP:0001166
- 共济失调 HP:0001251
- 房间隔缺损 HP:0001631
- 自闭症行为 HP:0000729
- 大脑皮层萎缩 HP:0002120
- 慢性便秘 HP:0012450
- 隐睾 HP:0000028
- 肌张力增高 HP:0001276
- 痉挛性四肢瘫 HP:0002510
- 痉挛 HP:0001257
- 并趾 HP:0001770
- 室间隔缺损 HP:0001629
罕见 <4–1%1
- 脑瘫 HP:0100021
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）