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干骺端成骨不全-智力障碍-传导性耳聋综合征

ORPHA:2502· ICD-10 Q78.5· Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome

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