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中文Laurence-Moon Syndrome (LNMS)
Alias:
Lnms
Laurence-Moon-Biedl Syndrome
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Laurence-Moon 综合症，也被称为 lnms，与多指和巴德-毕德尔综合症有关 1，并且有症状包括共济失调 与 Laurence-Moon 综合症相关的一个重要基因是 PNPLA6 (Patatin Like Phospholipase Domain Containing 6)，并且在其相关通路/超级通路中包括细胞器生物发生和维护以及纤毛景观。在该疾病的背景下提到了 Intermedine 和 Pharmaceutical Solutions 这两种药物。附属组织包括眼睛和垂体，相关表型是智力障碍和肥胖
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