Clark-Baraitser syndrome
ORPHA:600731疾病暂无中文名
定义 英文原文(暂无中文)
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by intellectual disability, obesity, macrocephaly, behavioral abnormalities (such as aggressive tantrums and autistic-like behavior), and delayed speech development. Dysmorphic facial features include large, square forehead, prominent supraorbital ridges, broad nasal tip, large ears, prominent lower lip, and minor dental anomalies such as small upper lateral incisors and central incisor gap.
基本事实
- 发病年龄
- 儿童期、婴儿期、新生儿期
- 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)