Global developmental delay-intellectual disability-facial dysmorphism-pseudo-Pelger-Huët anomaly syndrome
ORPHA:698085疾病暂无中文名
定义 英文原文（暂无中文）
A rare multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, intellectual disability, severe language delay/absence of language and impaired motor skills. All affected individuals present with dysmorphic features including coarse facies, prominent forehead, board depressed nasal root, long smooth philtrum, tented mouth, and low-set ears. Behavioral problems including tendency of self-injury, hyperactivity, aggressivity, and outbursts of anger are reported in the majority of the patients. Defects in nuclear lobulation, reminiscent of Pelger-Huët anomaly are frequently detected in cytological examinations.
别名
TMEM147-related neurodevelopmental disorder
基本事实
- 遗传方式
- 常染色体隐性
- 发病年龄
- 产前、婴儿期、新生儿期
- 患病率
- <1 / 1 000 000
相关基因 1
| 基因 | 名称 | 关联类型 |
|---|---|---|
| TMEM147 | transmembrane protein 147 | 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）