孤立型胼胝体发育不全
Isolated corpus callosum agenesis
ORPHA:200疾病
定义 英文原文（暂无中文）
A rare non-syndromic cerebral malformation characterized by congenital partial or complete absence of the corpus callosum. Patients are often asymptomatic but may also present with intellectual disability, visual impairment, delayed speech development, seizures, feeding difficulties, impaired hand-eye coordination, and behavioral abnormalities. Patients may have a normal intelligence quotient while exhibiting specific cognitive deficits, such as reduced interhemispheric transfer of sensorimotor information, reduced cognitive processing speed, and deficits in complex reasoning and novel problem-solving.
基本事实
- 遗传方式
- 不适用
- 发病年龄
- 产前
- 患病率
- 1-9 / 100 000（United States）
临床表型 13
极常见 99–80%1
- 胼胝体发育不全 HP:0001274
偶见 29–5%12
- 思维过程异常缓慢 HP:0031843
- 语言发育迟缓 HP:0000750
- 失读症 HP:0010522
- 工整书写困难 HP:6000915
- 吞咽困难 HP:0002015
- 肌张力减退 HP:0001252
- 中度智力障碍 HP:0002342
- 重度智力障碍 HP:0010864
- 语言障碍 HP:0002463
- 协调能力下降 HP:0002370
- 注意力短暂 HP:0000736
- 特定的学习障碍 HP:0001328
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）