Pontocerebellar hypoplasia type 17
ORPHA:728521疾病亚型暂无中文名
定义 英文原文（暂无中文）
A rare subtype of pontocerebellar hypoplasia characterized by global developmental delay, motor impairment, axial hypotonia and distal hypotonia as well as severe brainstem dysfunctions (feeding and respiratory difficulties, central apnea, bradycardia). Other variable clinical features can include ophtalmological, cardiac and gastrointestinal anomalies, facial dysmorphism and epilepsy. This subtype is associated with perinatal lethality. Brain imaging usually shows cerebellar hypoplasia together with brainstem hypoplasia.
别名
PCH17、PRDM13-related pontocerebellar hypoplasia
基本事实
- 遗传方式
- 常染色体隐性
相关基因 1
| 基因 | 名称 | 关联类型 |
|---|---|---|
| PRDM13 | PR/SET domain 13 | Disease-causing germline mutation(s) (loss of function) 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）