色素紊乱伴发听力损失
Ermine phenotype
ORPHA:999疾病
定义 英文原文（暂无中文）
A rare deafness characterized by the association of bilateral sensorineural hearing loss and white hair with scattered black tufts, as well as skin areas of hyper- and hypopigmentation. Additional reported features include global developmental delay and moderate intellectual disability, growth retardation, microcephaly, hypotonia, mild dysmorphic facial features (deeply set eyes, broad nasal bridge, slight bowing of the upper lip), retinal depigmentation, anomalies of the fingers and toes, and white matter abnormalities on brain imaging.
别名
色素异常伴听力丧失
基本事实
- 遗传方式
- 常染色体隐性
- 发病年龄
- 新生儿期
- 患病率
- <1 / 1 000 000
临床表型 16
极常见 99–80%3
- 毛发色素减退 HP:0005599
- 皮肤色素减退斑 HP:0001053
- 感音神经性听力受损 HP:0000407
常见 79–30%3
- 轻度智力障碍 HP:0001256
- 不规则色素沉着 HP:0007400
- 身材矮小 HP:0004322
偶见 29–5%10
- 鼻异常 HP:0000366
- 散光 HP:0000483
- 第五指屈指畸形 HP:0004209
- 肌张力减退 HP:0001252
- 虹膜色素减退 HP:0007730
- 小头畸形 HP:0000252
- 眼球震颤 HP:0000639
- 眼白化病 HP:0001107
- 畏光 HP:0000613
- 并趾 HP:0001770
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）