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身材矮小症-心脏瓣膜病-特征性面容综合征

ORPHA:2868· ICD-10 Q87.1· Short stature-valvular heart disease-characteristic facies syndrome

患病率
<1 / 1 000 000
遗传方式
Autosomal dominant
发病年龄
Infancy, Neonatal