81.视神经脊髓炎............................................................................................502 82.尼曼匹克病...............................................................................................
511 83.非综合征型耳聋........................................................................................518 84.努南综合征...............................................................................................
524 85.鸟氨酸氨甲酰基转移酶缺乏症..............................................................
530 86.成骨不全症................................................................................................535 87.帕金森病（青年型、早发型）...............................................................540 88.阵发性睡眠性血红蛋白尿症...................................................................547 89.波伊茨-耶格综合征..................................................................................555 90.苯丙酮尿症...............................................................................................
562 91.POEMS 综合征.......................................................................................
571 92.卟啉病........................................................................................................577 93.普拉德-威利综合征.................................................................................
584 94.原发性联合免疫缺陷病...........................................................................589 95.原发性遗传性肌张力不全.......................................................................599 96.原发性轻链型淀粉样变...........................................................................610 97.进行性家族性肝内胆汁淤积症...............................................................617 98.进行性肌营养不良....................................................................................623 99.丙酸血症....................................................................................................630 100.肺泡蛋白沉积症......................................................................................636 101.囊性纤维化..............................................................................................642 102.视网膜色素变性......................................................................................650 103.视网膜母细胞瘤......................................................................................655 104.重症先天性粒细胞缺乏症.....................................................................
663 105.婴儿严重肌阵挛性癫痫..........................................................................667 106.镰刀型细胞贫血病..................................................................................674 107.拉塞尔-西尔弗综合征
Silver-Russell syndrome...........................682 108.谷固醇血症..............................................................................................
689 109. 脊髓延髓肌萎缩症(肯尼迪病)............................................................
694 110.脊髓性肌萎缩症.......................................................................................699 111.脊髓小脑性共济失调...............................................................................705 112.系统性硬化症...........................................................................................712 113.四氢生物喋呤缺乏症..............................................................................
718 114.结节性硬化症...........................................................................................727 115.酪氨酸血症...............................................................................................
734 116.极长链酰基辅酶 A 脱氢酶缺乏症.......................................................741 117.威廉姆斯综合征........................................................................................748 118. 湿疹-血小板减少-免疫缺陷综合征.....................................................754 119.X 连锁肾上腺脑白质营养不良..............................................................762 120.X 连锁无丙种球蛋白血症......................................................................768
121.X 连锁淋巴增生症...................................................................................774 |
