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DONSON相关的小头畸形-身材矮小-四肢异常谱系

ORPHA:572761· ICD-10 Q87.1· DONSON-related microcephaly-short stature-limb abnormalities spectrum

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