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X连锁-智力障碍-小脑发育不全-脊椎骨骺发育不良综合征

ORPHA:459070· ICD-10 Q87.0· X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome

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