胼胝体发育不全-神经元病综合征
Corpus callosum agenesis-neuronopathy syndrome
ORPHA:1496疾病
定义 英文原文（暂无中文）
A rare neurodegenerative disorder characterized by severe progressive sensorimotor neuropathy beginning in infancy with resulting hypotonia, areflexia, amyotrophy and variable degrees of dysgenesis of the corpus callosum. Additional features include mild-to-severe intellectual and developmental delays, and psychiatric manifestations that include paranoid delusions, depression, hallucinations, and 'autistic-like' features. Affected individuals are usually wheelchair restricted in the second decade of life and die in the third decade of life. The disease is inherited as an autosomal recessive trait.
别名
Charlevoix病
基本事实
- 遗传方式
- 常染色体隐性
- 发病年龄
- 产前、新生儿期
- 患病率
- <1 / 1 000 000
相关基因 1
| 基因 | 名称 | 关联类型 |
|---|---|---|
| SLC12A6 | solute carrier family 12 member 6 | Disease-causing germline mutation(s) in |
临床表型 14
极常见 99–80%7
- 胼胝体发育不全 HP:0001274
- 脑电图异常 HP:0002353
- 全面发育迟缓 HP:0001263
- 偏瘫/轻偏瘫 HP:0004374
- 智力障碍 HP:0001249
- 小头畸形 HP:0000252
- 癫痫发作 HP:0001250
常见 79–30%1
- 中脑导水管狭窄 HP:0002410
偶见 29–5%6
- 视网膜色素异常 HP:0007703
- 颅缝早闭 HP:0001363
- 近视 HP:0000545
- 眼球震颤 HP:0000639
- 斜视 HP:0000486
- 尖头畸形 HP:0000262
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）