巴特-彭弗莱综合征
基因病名称(英)
Bart-Pumphrey syndrome
关键字(英)
Deafness,Palmoplantar keratoderma
别名(英)
Knuckle pads, leukonychia, and sensorineural deafness
统计
reviewed:1; annotated:0
交叉引用
149200,C0266004,D006319,D007645
描述(英)
An autosomal dominant disorder characterized by sensorineural hearing loss, palmoplantar keratoderma, knuckle pads, and leukonychia, It shows considerable phenotypic variability.
描述
一种以感音神经性听力损失、掌跖角化病、指节垫和白甲病为特征的常染色体显性遗传疾病，表现出相当大的表型变异性。