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常染色体显性遗传性智力障碍-颅面畸形-心脏缺陷综合征

ORPHA:457193· ICD-10 Q87.8· KAT6-related intellectual disability-craniofacial anomalies-cardiac defects syndrome

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