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中文Mend Syndrome (MEND)
Alias:
Male Ebp Disorder with Neurological Defects
Mend
Male Ebp Disorder with Neurologic Defects
Mende Syndrome
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梅登综合症，又称男性ebp缺陷伴神经缺陷，与x连锁点状软骨发育不全2和x连锁显性点状软骨发育不全2有关。梅登综合症的一个重要基因是EBP（EBP胆固醇Delta异构酶），其相关通路/超级通路包括代谢和Rb蛋白的调节。附属组织包括皮肤和心脏，相关表型为8-脱氢胆固醇升高和8(9)-胆固醇升高
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MALACARDS
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