SLC12A2-related autosomal recessive neonatal-developmental delay-intellectual disability-feeding difficulty-sensorineural deafness syndrome
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 profound global developmental delay, impaired intellectual development, absent speech, sensorineural hearing loss, and hypotonia (present at birth). Patients have poor overall growth with severe feeding difficulties associated with gastrointestinal anomalies (including gastroesophageal reflux, midgut malrotation). Secretory dysfunction (including tear, sweat, and saliva production) causing dry mouth and recurrent bronchial mucus plugging are commonly observed. Differing from other form of the syndrome, these patients are often present with mild and non specific dysmorphic features (narrow forehead, oblong face, low-set ears, wide mouth, mandibular prognathia) and have multiple malformations (gastrointestinal, brain, choanal).
别名
Kilquist syndrome
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 |
|---|---|---|
| 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）