大脑小,智力发育障碍和失衡综合征-2:一个病例报告
Livia Hochman1, Alrick Drummond2, Kara Morgan3
1Medicine, Florida State University College of Medicine, Tallahassee, USA.
Cureus
|February 27, 2025
概括
在WDR81基因的致病变体导致小脑缩,智力障碍和失衡综合征-2 (CAMRQ2). 这一案例扩大了已知的临床范围,强调了对罕见疾病的代遗传测试.
科学领域:
- 遗传学和罕见疾病.
- 神经发育障碍 神经发育障碍
背景情况:
- 脑小细胞,智力障碍和失衡综合征-2 (CAMRQ2) 是一种罕见的遗传性疾病.
- WDR81基因的致病变体与CAMRQ2相关,通常表现为先天性小脑缩和智力障碍.
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