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先天性畸形-身材矮小-耳聋-性发育障碍综合征

ORPHA:2282· ICD-10 Q87.8· Dysmorphism-short stature-deafness-difference of sex development syndrome

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