SLC12A2-related developmental delay-intellectual disability-sensorineural deafness syndrome
ORPHA:633014疾病暂无中文名
定义 英文原文（暂无中文）
A rare genetic, syndromic intellectual disability syndrome characterized by mild to severe global developmental delay and intellectual disability, delayed or absent speech and walking, and bilateral sensorineural deafness. Severity of the symptoms are variable. Patients may manifest with profound hypotonia, severe feeding difficulties and secretory dysfuntion. Autistic features, spasticity, mild and non-specific dysmorphic features and cardiac defects were reported in some patients.
基本事实
- 遗传方式
- 常染色体显性、常染色体隐性
- 发病年龄
- 青少年期、儿童期、婴儿期
- 患病率
- <1 / 1 000 000
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）