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X连锁-仅限于女性-面部畸形-身材矮小-鼻后孔闭锁-智力障碍

ORPHA:480880· ICD-10 Q87.8· X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability

患病率
<1 / 1 000 000
遗传方式
X-linked dominant
发病年龄
Antenatal, Infancy, Neonatal