NESCAV syndrome
定义 英文原文（暂无中文）
A rare syndromic neurodegenerative syndrome characterized by infancy/childhood-onset global developmental delay, poor or absent speech, moderate to severe intellectual disability, hypotonia, progressive spasticity (mainly affecting the lower limbs and leading to walking difficulties or loss of independent ambulation), and peripheral axonal neuropathy. The clinical presentation varies among affected individuals and other major clinical features include progressive cerebellar atrophy (in some patients cerebral atrophy may also be present), postnatal microcephaly, cortical visual impairment (associated with optic atrophy), seizures, hyperreflexia, dysautonomia, ataxia, dystonia, behavioral abnormalities and feeding difficulties. Joint contractures, scoliosis and kyphosis may also be present.
别名
Neurodegeneration-spasticity-cerebellar atrophy-cortical visual impairment syndrome
基本事实
- 遗传方式
- 常染色体显性
- 发病年龄
- 儿童期、婴儿期
- 患病率
- <1 / 1 000 000
相关基因 1
| 基因 | 名称 | 关联类型 |
|---|---|---|
| KIF1A | kinesin family member 1A | Disease-causing germline mutation(s) in |
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；本条目在该版本中无中文名
- 表型中文标签：HPO 简体中文翻译（CHPO 上游成果）