X连锁智力障碍-低丙种球蛋白血症-进展性神经功能恶化综合征
X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome
ORPHA:85317疾病
定义 英文原文（暂无中文）
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by moderate intellectual disability, dysmorphic facial features (such as prominent glabella, synophrys, and prognathism), generalized hirsutism, bilateral single palmar creases, and seizures. Additional reported manifestations include slowly progressive neurological deterioration with muscular weakness and impaired gait and balance, as well as hypogammaglobulinemia with specific absence of plasma and/or secretory IgA, among others. Brain imaging may show mild cerebellar atrophy and thin corpus callosum.
基本事实
- 遗传方式
- X 连锁隐性
- 发病年龄
- 儿童期
- 患病率
- <1 / 1 000 000
临床表型 21
极常见 99–80%9
- 双侧单掌横折痕 HP:0007598
- 循环抗体水平降低 HP:0004313
- 多毛症 HP:0000998
- 中度智力障碍 HP:0002342
- 下颌前突 HP:0000303
- 进行性神经功能恶化 HP:0002344
- 额嵴突出 HP:0005487
- 癫痫发作 HP:0001250
- 连眉 HP:0000664
常见 79–30%12
- 共济失调 HP:0001251
- 小脑萎缩 HP:0001272
- 腭裂 HP:0000175
- 步态异常 HP:0001288
- 眼距过宽 HP:0000316
- 脊柱后凸畸形（驼背） HP:0002808
- 肌无力 HP:0001324
- 周围神经病 HP:0009830
- 眶上嵴突出 HP:0000336
- 招风耳 HP:0000411
- 脊柱侧弯 HP:0002650
- 人中短 HP:0000322
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）