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智力障碍-肌肉无力-身材矮小-面部畸形综合征

ORPHA:457365· ICD-10 Q87.8· Intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome

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