SLC12A2-related autosomal dominant infantile-developmental delay-intellectual disability-sensorineural deafness syndrome
ORPHA:633024疾病亚型暂无中文名
定义 英文原文（暂无中文）
A rare form of SLC12A2-related developmental delay-intellectual disability-sensorineural deafness syndrome characterized by global developmental delay, mild to moderate intellectual disability, delayed, poor or absent speech, hypotonia with delayed or absent walking, bilateral sensorineural deafness, and autistic features. Variable features may include ventricular septal defect, tracheoesophageal fistula, hip dislocation, swallowing difficulties (that may require tube feeding), brain anomalies (including cortical dysplasia and agenesis of the corpus callosum) and spasticity.
别名
Delpire-McNeill syndrome
基本事实
- 遗传方式
- 常染色体显性
相关基因 1
| 基因 | 名称 | 关联类型 |
|---|---|---|
| SLC12A2 | solute carrier family 12 member 2 | 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）