Infantile neurodegeneration-progressive spasticity-intellectual disability-white matter lesions syndrome
定义 英文原文（暂无中文）
A rare genetic neurological syndrome of variable severity characterized by progressive spasticity affecting predominantly the lower limbs. Most patients manifest global developmental delay, moderate to severe intellectual disability and white matter abnormalities in infancy complicated by variable features including seizures, episodic respiratory failure, joint contractures and ocular problems. Some patients have normal early development until later childhood followed by regression in motor, cognitive and language skills over time. Some patients manifest only spastic paraplegia.
别名
HPDL-related Leigh-like encephalopathy、HPDL-related infantile neurodegeneration-progressive spasticity-intellectual disability-white matter lesions syndrome
基本事实
- 遗传方式
- 常染色体隐性
- 发病年龄
- 婴儿期、新生儿期
- 患病率
- <1 / 1 000 000
相关基因 1
| 基因 | 名称 | 关联类型 |
|---|---|---|
| HPDL | 4-hydroxyphenylpyruvate dioxygenase like | 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）