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拇指僵硬-短肢畸形-智力障碍综合征

ORPHA:1078· ICD-10 Q87.2· Thumb stiffness-brachydactyly-intellectual disability syndrome

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