CHAMP1-related intellectual disability-facial dysmorphism-behavioral abnormalities syndrome
定义 英文原文（暂无中文）
A rare malformation syndrome characterized by global developmental delay with intellectual disability, speech delay, hypotonia, neurobehavioral symptoms including autism spectrum disorder, repetitive behaviors, attention deficit hyperactivity disorder, and sleep abnormalities. Dysmorphic facial features may include microcephaly (or sometimes macrocephaly), a round face, a flat head with a shortened forehead, hypertelorism, upslanted palpebral fissures, bulbous nose, wide nasal bridge, short philtrum, tented upper lip, and dental abnormalities (most commonly retained primary teeth). Additional clinical features can include recurrent infections, cyclic vomiting syndrome, seizures, and nonspecific congenital malformations.
基本事实
- 遗传方式
- 常染色体显性
- 发病年龄
- 儿童期、婴儿期
- 患病率
- <1 / 1 000 000
相关基因 1
| 基因 | 名称 | 关联类型 |
|---|---|---|
| CHAMP1 | chromosome alignment maintaining phosphoprotein 1 | 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）