X连锁智力障碍-张力减退-面部畸形-攻击行为综合征
X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome
ORPHA:85329疾病
定义 英文原文（暂无中文）
A rare X-linked syndromic intellectual disability characterized by severe to profound intellectual disability, muscular hypotonia in childhood, delayed walking, delayed or minimal/absent speech, behavioral abnormalities including aggressiveness, agitation, and self-injurious behavior, and dysmorphic facial features (such as triangular face with high forehead, prominent ears, and small, pointed chin). Additional reported manifestations include microcephaly, short stature, and seizures, among others.
基本事实
- 遗传方式
- X 连锁隐性
- 发病年龄
- 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 |
|---|---|---|
| AP1S2 | adaptor related protein complex 1 subunit sigma 2 | Disease-causing germline mutation(s) in |
临床表型 19
极常见 99–80%16
- 面部形状异常 HP:0001999
- 攻击性行为 HP:0000718
- 喂养困难 HP:0011968
- 步态异常 HP:0001288
- 全身性肌张力减低 HP:0001290
- 全面发育迟缓 HP:0001263
- 额头高 HP:0000348
- 极重度智力障碍 HP:0002187
- 长脸 HP:0000276
- 长鼻 HP:0003189
- 小头畸形 HP:0000252
- 闭口不能 HP:0000194
- 招风耳 HP:0000411
- 短下巴 HP:0000331
- 骨骼肌萎缩 HP:0003202
- 三角脸 HP:0000325
常见 79–30%2
- 脑电图异常 HP:0002353
- 肌病 HP:0003198
偶见 29–5%1
- 身材矮小 HP:0004322
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）