卷发-发育迟缓-神经系统异常综合征
Pili torti-developmental delay-neurological abnormalities syndrome
ORPHA:2891疾病
定义 英文原文（暂无中文）
Pili torti-developmental delay-neurological abnormalities syndrome is characterized by growth and developmental delay, mild to moderate neurologic abnormalities, and pili torti. It has been described in a brother and his sister born to consanguineous Puerto Rican parents.
基本事实
- 发病年龄
- 婴儿期
- 患病率
- <1 / 1 000 000
临床表型 10
极常见 99–80%8
- 发质异常 HP:0010719
- 眉毛发育不全 HP:0100840
- 共济失调 HP:0001251
- 全面发育迟缓 HP:0001263
- 生长延迟 HP:0001510
- 关节过度活动 HP:0001382
- 卷发 HP:0003777
- 睫毛稀疏/无睫毛 HP:0200102
常见 79–30%2
- 步态异常 HP:0001288
- 肌张力减退 HP:0001252
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
- 表型中文标签：HPO 简体中文翻译（CHPO 上游成果）