Perrault syndrome type 2
ORPHA:642976疾病亚型暂无中文名
定义 英文原文（暂无中文）
A form of Perrault syndrome characterized by sensorineural, generally bilateral, prelingual, progressive and sometimes asymmetric hearing loss, primary ovarian dysgenesis in females and neurological features of variable severity including cerebellar dysfunction/athrophy with ataxia, intellectual disability, neuropathy and behavioral symptoms. Additional clinical features may involve developmental delay, muscular and renal manifestations.
别名
XX gonadal dysgenesis-deafness syndrome-progressive neurological manifestations
基本事实
- 遗传方式
- 常染色体隐性
相关基因 9
| 基因 | 名称 | 关联类型 |
|---|---|---|
| HSD17B4 | hydroxysteroid 17-beta dehydrogenase 4 | Disease-causing germline mutation(s) in |
| TWNK | twinkle mtDNA helicase | Disease-causing germline mutation(s) in |
| HARS2 | histidyl-tRNA synthetase 2, mitochondrial | Disease-causing germline mutation(s) in |
| RMND1 | required for meiotic nuclear division 1 homolog | Disease-causing germline mutation(s) in |
| CLPP | caseinolytic mitochondrial matrix peptidase proteolytic subunit | Disease-causing germline mutation(s) in |
| LARS2 | leucyl-tRNA synthetase 2, mitochondrial | Disease-causing germline mutation(s) in |
| ERAL1 | Era like 12S mitochondrial rRNA chaperone 1 | Disease-causing germline mutation(s) in |
| GGPS1 | geranylgeranyl diphosphate synthase 1 | Disease-causing germline mutation(s) in |
| PRORP | protein only RNase P catalytic subunit | 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）