肾小管病相关记忆障碍
Tubulinopathy-associated dysgyria
ORPHA:467166疾病
定义 英文原文（暂无中文）
A rare genetic central nervous system malformation characterized by dysplasia of the superior cerebellum (especially the vermis), brainstem asymmetry, dysplasia of the basal ganglia, and cortical irregularities with asymmetric abnormalities in gyral size and orientation, as well as varying sulcal depth, but without lissencephaly, pachygyria, or polymicrogyria. Clinically, patients present global developmental delay with motor development usually being more affected that speech. Variable features are abnormal eye movements including oculomotor apraxia, strabismus, seizures, and behavioral problems.
别名
脑干不对称-小脑上部和基底神经节发育不良综合征
基本事实
- 遗传方式
- 常染色体显性、不适用
- 发病年龄
- 婴儿期
- 患病率
- <1 / 1 000 000
相关基因 3
| 基因 | 名称 | 关联类型 |
|---|---|---|
| TUBA1A | tubulin alpha 1a | Disease-causing germline mutation(s) in |
| TUBB2B | tubulin beta 2B class IIb | Disease-causing germline mutation(s) in |
| TUBB3 | tubulin beta 3 class III | Disease-causing germline mutation(s) in |
临床表型 24
极常见 99–80%9
- 脑干形态异常 HP:0002363
- 胼胝体形态异常 HP:0001273
- 丘脑形态异常 HP:0010663
- 内囊异常 HP:0012502
- 小脑蚓部发育不全 HP:0001320
- 脑回形态异常 HP:0032398
- 全面发育迟缓 HP:0001263
- 脑桥发育不良 HP:0012110
- 小头畸形 HP:0000252
常见 79–30%8
- 不自主眼球运动异常 HP:0012547
- 嗅球形态异常 HP:0040327
- 无脑回畸型 HP:0031882
- 注意力缺陷多动障碍 HP:0007018
- 眼球运动失用 HP:0000657
- 巨脑回 HP:0001302
- 斜视 HP:0000486
- 巨脑室 HP:0002119
偶见 29–5%7
- 共济失调 HP:0001251
- 双侧眼睑下垂 HP:0001488
- 失神发作 HP:0002121
- 肌张力减退 HP:0001252
- 婴儿痉挛 HP:0012469
- 巨头畸形 HP:0000256
- 惊吓诱发性癫痫发作 HP:0020214
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）