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先天性多发性咖啡斑-姐妹染色体交换增多综合征

ORPHA:508512· ICD-10 Q87.1· Intrauterine growth restriction-congenital multiple café-au-lait macules-increased sister chromatid exchange syndrome

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