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智力障碍-白内障-耳廓钙化-肌病综合征

ORPHA:3042· ICD-10 Q87.8· Intellectual disability-cataracts-calcified pinnae-myopathy syndrome

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