{"id":10127,"date":"2020-11-27T15:00:38","date_gmt":"2020-11-27T06:00:38","guid":{"rendered":"http:\/\/cell.brc.riken.jp\/en\/?page_id=10127"},"modified":"2025-08-18T14:45:17","modified_gmt":"2025-08-18T05:45:17","slug":"diseaselist_1d_1","status":"publish","type":"page","link":"http:\/\/cell.brc.riken.jp\/en\/hps\/patient_specific_ips\/diseaselist_1d_1","title":{"rendered":"Neuromuscular disease"},"content":{"rendered":"

\uff0a When you want to use some Disease-specific iPS cells, please e-mail to the following address.
\n\uff0a In relation to the information that are not described below, please e-mail to the following address.<\/p>\n

Contact us :\u00a0cellips.brc\"\"riken.jp<\/a><\/p>\n

Blue letter cells are available. You obtain the information by clicking the blue letter.
\n*iPS cells created using the Sendai virus vector are now available<\/a><\/p>\n

*Terms:
\nIn relation to all iPS cell lines, approval of institutional review board and\/or institutional ethical committee regarding the research using iPS cells is necessary.
\nIn relation to all iPS cell lines, commercial use is prohibited.
\nIn relation to the cell lines marked with \u25ce, (1) the recipient does not need to obtain an approval from the depositor, (2) there is no need of collaboration with the depositor, and (3) for-profit entities can also utilize.<\/p>\n

Update : 2020.11.27<\/p>\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n
Name of diseases<\/th>\nPatient No.<\/th>\n*Terms<\/th>\nApproval Form<\/th>\nHPS<\/th>\n<\/th>\n<\/th>\n<\/th>\n<\/th>\n<\/th>\n<\/th>\n<\/th>\n<\/th>\nReferences<\/th>\n<\/tr>\n
Neuromuscular diseases<\/span><\/strong><\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
1. Spinal-Bulbar Muscular Atrophy (SBMA)<\/strong><\/span><\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
Spinal-Bulbar Muscular Atrophy (SBMA)<\/td>\n1<\/td>\n\u25ce<\/td>\nUnnecessary<\/td>\nHPS0479<\/a><\/td>\nHPS0480<\/td>\nHPS0481<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\nPMID: 23193063<\/a>
\n24399248<\/a><\/td>\n<\/tr>\n
2<\/td>\n\u25ce<\/td>\nUnnecessary<\/td>\nHPS0482<\/a><\/td>\nHPS0483<\/td>\nHPS0484<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\nPMID: 23193063<\/a>
\n24399248<\/a><\/td>\n<\/tr>\n
<\/a>3<\/td>\n\u25ce<\/td>\nUnnecessary<\/td>\nHPS0654<\/a><\/td>\nHPS0655<\/td>\nHPS0656<\/td>\nHPS0657<\/td>\nHPS0658<\/td>\nHPS0659<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
2. Amyotrophic lateral sclerosis (ALS) <\/strong><\/span><\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
Amyotrophic lateral sclerosis (ALS)<\/td>\n1<\/td>\n<\/td>\n<\/td>\nHPS0059<\/a><\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
2<\/td>\n<\/td>\n<\/td>\nHPS0247<\/a><\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
3<\/td>\n<\/td>\n<\/td>\nHPS0248<\/a><\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
4<\/td>\n<\/td>\n<\/td>\nHPS0249<\/a><\/td>\nHPS1721<\/td>\nHPS1722<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
5<\/td>\n<\/td>\n<\/td>\nHPS0250<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
6<\/td>\n<\/td>\n<\/td>\nHPS0251<\/a><\/td>\nHPS1719<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
7<\/td>\n<\/td>\n<\/td>\nHPS0252<\/a><\/td>\nHPS1720<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
8<\/td>\n<\/td>\n<\/td>\nHPS0253<\/a><\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
9<\/td>\n<\/td>\n<\/td>\nHPS0419<\/a><\/td>\nHPS0420<\/td>\nHPS0421<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
10<\/td>\n\u25ce<\/td>\nUnnecessary<\/td>\nHPS0473<\/a><\/td>\nHPS0474<\/td>\nHPS0475<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\nPMID: 23193063<\/a>
\n24399248<\/a><\/td>\n<\/tr>\n
11<\/td>\n\u25ce<\/td>\nUnnecessary<\/td>\nHPS0476<\/a><\/td>\nHPS0477<\/td>\nHPS0478<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\nPMID: 23193063<\/a>
\n24399248<\/a><\/td>\n<\/tr>\n
12<\/td>\n\u25ce<\/td>\nUnnecessary<\/td>\nHPS0485<\/a><\/td>\nHPS0486<\/td>\nHPS0487<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\nPMID: 23193063<\/a>
\n24399248<\/a><\/td>\n<\/tr>\n
13<\/td>\n\u25ce<\/td>\nUnnecessary<\/td>\nHPS0558<\/td>\nHPS0559<\/td>\nHPS0560<\/td>\nHPS0561<\/td>\nHPS0562<\/td>\nHPS0563<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
14<\/td>\n\u25ce<\/td>\nUnnecessary<\/td>\nHPS0564<\/td>\nHPS0565<\/td>\nHPS0566<\/td>\nHPS0567<\/td>\nHPS0568<\/td>\nHPS0569<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
15<\/td>\n\u25ce<\/td>\nUnnecessary<\/td>\nHPS0576<\/td>\nHPS0577<\/td>\nHPS0578<\/td>\nHPS0579<\/td>\nHPS0580<\/td>\nHPS0581<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
16<\/td>\n\u25ce<\/td>\nUnnecessary<\/td>\nHPS0612<\/td>\nHPS0613<\/td>\nHPS0614<\/td>\nHPS0615<\/td>\nHPS0616<\/td>\nHPS0617<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
17<\/td>\n\u25ce<\/td>\nUnnecessary<\/td>\nHPS0618<\/td>\nHPS0619<\/td>\nHPS0620<\/td>\nHPS0621<\/td>\nHPS0622<\/td>\nHPS0623<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
18<\/td>\n\u25ce<\/td>\nUnnecessary<\/td>\nHPS0624<\/td>\nHPS0625<\/td>\nHPS0626<\/td>\nHPS0627<\/td>\nHPS0628<\/td>\nHPS0629<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
19<\/td>\n\u25ce<\/td>\nUnnecessary<\/td>\nHPS0630<\/td>\nHPS0631<\/td>\nHPS0632<\/td>\nHPS0633<\/td>\nHPS0634<\/td>\nHPS0635<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
20<\/td>\n\u25ce<\/td>\nUnnecessary<\/td>\nHPS0636<\/td>\nHPS0637<\/td>\nHPS0638<\/td>\nHPS0639<\/td>\nHPS0640<\/td>\nHPS0641<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
21<\/td>\n\u25ce<\/td>\nUnnecessary<\/td>\nHPS0642<\/td>\nHPS0643<\/td>\nHPS0644<\/td>\nHPS0645<\/td>\nHPS0646<\/td>\nHPS0647<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
22<\/td>\n\u25ce<\/td>\nUnnecessary<\/td>\nHPS0648<\/td>\nHPS0649<\/td>\nHPS0650<\/td>\nHPS0651<\/td>\nHPS0652<\/td>\nHPS0653<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
23<\/td>\n\u25ce<\/td>\nUnnecessary<\/td>\nHPS0724<\/td>\nHPS0725<\/td>\nHPS0726<\/td>\nHPS0727<\/td>\nHPS0728<\/td>\nHPS0729<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
24<\/td>\n\u25ce<\/td>\nUnnecessary<\/td>\nHPS0730<\/td>\nHPS0731<\/td>\nHPS0732<\/td>\nHPS0733<\/td>\nHPS0734<\/td>\nHPS0735<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
25<\/td>\n\u25ce<\/td>\nUnnecessary<\/td>\nHPS0736<\/td>\nHPS0737<\/td>\nHPS0738<\/td>\nHPS0739<\/td>\nHPS0740<\/td>\nHPS0741<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
26<\/td>\n\u25ce<\/td>\nUnnecessary<\/td>\nHPS0742<\/td>\nHPS0743<\/td>\nHPS0744<\/td>\nHPS0745<\/td>\nHPS0746<\/td>\nHPS0747<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
27<\/td>\n\u25ce<\/td>\nUnnecessary<\/td>\nHPS0748<\/td>\nHPS0749<\/td>\nHPS0750<\/td>\nHPS0751<\/td>\nHPS0752<\/td>\nHPS0753<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
28<\/td>\n\u25ce<\/td>\nUnnecessary<\/td>\nHPS0754<\/td>\nHPS0755<\/td>\nHPS0756<\/td>\nHPS0757<\/td>\nHPS0758<\/td>\nHPS0759<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
29<\/td>\n\u25ce<\/td>\nUnnecessary<\/td>\nHPS0760<\/td>\nHPS0761<\/td>\nHPS0762<\/td>\nHPS0763<\/td>\nHPS0764<\/td>\nHPS0765<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
30<\/td>\n\u25ce<\/td>\nUnnecessary<\/td>\nHPS0766<\/td>\nHPS0767<\/td>\nHPS0768<\/td>\nHPS0769<\/td>\nHPS0770<\/td>\nHPS0771<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
31<\/td>\n\u25ce<\/td>\nUnnecessary<\/td>\nHPS0782<\/td>\nHPS0783<\/td>\nHPS0784<\/td>\nHPS0785<\/td>\nHPS0786<\/td>\nHPS0787<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
32<\/td>\n\u25ce<\/td>\nUnnecessary<\/td>\nHPS0788<\/td>\nHPS0789<\/td>\nHPS0790<\/td>\nHPS0791<\/td>\nHPS0792<\/td>\nHPS0793<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
33<\/td>\n\u25ce<\/td>\nUnnecessary<\/td>\nHPS0794<\/td>\nHPS0795<\/td>\nHPS0796<\/td>\nHPS0797<\/td>\nHPS0798<\/td>\nHPS0799<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
34<\/td>\n\u25ce<\/td>\nUnnecessary<\/td>\nHPS0824<\/td>\nHPS0825<\/td>\nHPS0826<\/td>\nHPS0827<\/td>\nHPS0828<\/td>\nHPS0829<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
35<\/td>\n\u25ce<\/td>\nUnnecessary<\/td>\nHPS0860<\/td>\nHPS0861<\/td>\nHPS0862<\/td>\nHPS0863<\/td>\nHPS0864<\/td>\nHPS0865<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
36<\/td>\n\u25ce<\/td>\nUnnecessary<\/td>\nHPS0890<\/td>\nHPS0891<\/td>\nHPS0892<\/td>\nHPS0893<\/td>\nHPS0894<\/td>\nHPS0895<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
37<\/td>\n\u25ce<\/td>\nUnnecessary<\/td>\nHPS0896<\/td>\nHPS0897<\/td>\nHPS0898<\/td>\nHPS0899<\/td>\nHPS0900<\/td>\nHPS0901<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
38<\/td>\n\u25ce<\/td>\nUnnecessary<\/td>\nHPS0902<\/td>\nHPS0903<\/td>\nHPS0904<\/td>\nHPS0905<\/td>\nHPS0906<\/td>\nHPS0907<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
39<\/td>\n\u25ce<\/td>\nUnnecessary<\/td>\nHPS0908<\/td>\nHPS0909<\/td>\nHPS0910<\/td>\nHPS0911<\/td>\nHPS0912<\/td>\nHPS0913<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
40<\/td>\n\u25ce<\/td>\nUnnecessary<\/td>\nHPS0914<\/td>\nHPS0915<\/td>\nHPS0916<\/td>\nHPS0917<\/td>\nHPS0918<\/td>\nHPS0919<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
41<\/td>\n\u25ce<\/td>\nUnnecessary<\/td>\nHPS0920<\/td>\nHPS0921<\/td>\nHPS0922<\/td>\nHPS0923<\/td>\nHPS0924<\/td>\nHPS0925<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
42<\/td>\n\u25ce<\/td>\nUnnecessary<\/td>\nHPS0926<\/td>\nHPS0927<\/td>\nHPS0928<\/td>\nHPS0929<\/td>\nHPS0930<\/td>\nHPS0931<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
43<\/td>\n<\/td>\n<\/td>\nHPS1055<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
44<\/td>\n<\/td>\n<\/td>\nHPS1056<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
45<\/td>\n<\/td>\n<\/td>\nHPS1723<\/td>\nHPS1724<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
46<\/td>\n<\/td>\n<\/td>\nHPS1818<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
47<\/td>\n<\/td>\n<\/td>\nHPS1819<\/td>\nHPS1820<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
48<\/td>\n<\/td>\n<\/td>\nHPS1821<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
49<\/td>\n<\/td>\n<\/td>\nHPS1822<\/td>\nHPS1823<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
50<\/td>\n<\/td>\n<\/td>\nHPS1824<\/td>\nHPS1825<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
51<\/td>\n<\/td>\n<\/td>\nHPS1826<\/td>\nHPS1827<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
52<\/td>\n<\/td>\n<\/td>\nHPS1828<\/td>\nHPS1829<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
53<\/td>\n<\/td>\n<\/td>\nHPS1830<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
54<\/td>\n<\/td>\n<\/td>\nHPS1831<\/td>\nHPS1832<\/td>\nHPS1833<\/td>\nHPS1834<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
55<\/td>\n<\/td>\n<\/td>\nHPS1835<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
56<\/td>\n<\/td>\n<\/td>\nHPS1891<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
57<\/td>\n<\/td>\n<\/td>\nHPS3818<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
58<\/td>\n<\/td>\n<\/td>\nHPS3821<\/td>\nHPS3822<\/td>\nHPS3823<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
59<\/td>\n<\/td>\n<\/td>\nHPS3824<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
60<\/td>\n<\/td>\n<\/td>\nHPS3825<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
Amyotrophic lateral sclerosis (ALS), TDP-43 mutations<\/td>\n1<\/td>\n<\/td>\n<\/td>\nHPS0290<\/a><\/td>\nHPS0291<\/a><\/td>\nHPS0327<\/a><\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\nPMID: 22855461 <\/a><\/td>\n<\/tr>\n
2<\/td>\n<\/td>\n<\/td>\nHPS0292<\/a><\/td>\nHPS0293<\/a><\/td>\nHPS0294<\/a><\/td>\nHPS1717<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\nPMID: 22855461 <\/a>
\n28539470 <\/a><\/td>\n<\/tr>\n
Amyotrophic lateral sclerosis (ALS), familia amyotrophic lateral sclerosis (FALS)<\/td>\n1<\/td>\n<\/td>\n<\/td>\nHPS0140*<\/a><\/td>\nHPS0141*<\/a><\/td>\nHPS0142*<\/a><\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
Amyotrophic lateral sclerosis (ALS), bulbar, with UMN<\/td>\n1<\/td>\n<\/td>\n<\/td>\nHPS0146*<\/a><\/td>\nHPS0147*<\/a><\/td>\nHPS0148*<\/a><\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
Amyotrophic lateral sclerosis (ALS), classical, with UMN<\/td>\n1<\/td>\n<\/td>\n<\/td>\nHPS0129*<\/a><\/td>\nHPS0130*<\/a><\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
Amyotrophic lateral sclerosis (ALS), pseudo-polyneuritic, w\/o UMN<\/td>\n1<\/td>\n<\/td>\n<\/td>\nHPS0134*<\/a><\/td>\nHPS0136*<\/a><\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
Amyotrophic lateral sclerosis (ALS) \/ Parkinsonism-dementia<\/td>\n1<\/td>\n\u25ce<\/td>\nUnnecessary<\/td>\nHPS0878<\/td>\nHPS0879<\/td>\nHPS0880<\/td>\nHPS0881<\/td>\nHPS0882<\/td>\nHPS0883<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
Muro disease (Kii ALS\/PDC)<\/td>\n1<\/td>\n<\/td>\nUnnecessary<\/td>\nHPS1742<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
2<\/td>\n<\/td>\nUnnecessary<\/td>\nHPS1780<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
3<\/a><\/td>\n<\/td>\nUnnecessary<\/td>\nHPS1781<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
3. Spinal muscular atrophy<\/strong><\/span><\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
Spinal muscular atrophy, SMA Type I<\/td>\n1<\/td>\n<\/td>\n<\/td>\nHPS0158<\/a><\/td>\nHPS0159<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\nPMID: 25801509<\/a><\/td>\n<\/tr>\n
Spinal muscular atrophy, SMA Type II<\/td>\n1<\/td>\n\u25ce<\/td>\n<\/td>\nHPS1391<\/a><\/td>\nHPS1392<\/a><\/td>\nHPS1393<\/td>\nHPS1394<\/td>\nHPS1395<\/td>\nHPS1396<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
Spinal muscular atrophy<\/a><\/td>\n1<\/td>\n\u25ce<\/td>\nUnnecessary<\/td>\nHPS0932<\/td>\nHPS0933<\/td>\nHPS0934<\/td>\nHPS0935<\/td>\nHPS0936<\/td>\nHPS0937<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
2<\/td>\n<\/td>\n<\/td>\nHPS3871<\/td>\nHPS3872<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
4. Primary lateral sclerosis (PLS)<\/strong><\/span><\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
Primary lateral sclerosis (PLS)<\/a><\/td>\n1<\/td>\n<\/td>\n<\/td>\nHPS0414<\/a><\/td>\nHPS0415<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
2<\/td>\n<\/td>\n<\/td>\nHPS0417<\/a><\/td>\nHPS0418<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
Primary lateral sclerosis (PLS), unknown genetic etiology<\/a><\/td>\n1<\/td>\n\u25ce<\/td>\nUnnecessary<\/td>\nHPS2906<\/a><\/td>\nHPS2907<\/td>\nHPS2908<\/td>\nHPS2909<\/td>\nHPS2910<\/td>\nHPS2911<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
5. Progressive supranuclea palsy (PSP)<\/a.<\/strong><\/span><\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
Progressive supranuclea palsy (PSP)<\/td>\n1<\/td>\n\u25ce<\/td>\nUnnecessary<\/td>\nHPS2714<\/td>\nHPS2715<\/td>\nHPS2716<\/td>\nHPS2717<\/td>\nHPS2718<\/td>\nHPS2719<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
6. Parkinson\u2019s disease (PD\uff09<\/span><\/strong><\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
Parkinson’s disease (PD)<\/td>\n1<\/td>\n<\/td>\n<\/td>\nHPS0264<\/a><\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
2<\/td>\n<\/td>\n<\/td>\nHPS0800<\/td>\nHPS0801<\/td>\nHPS0802<\/td>\nHPS0803<\/td>\nHPS0804<\/td>\nHPS0805<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
3<\/td>\n\u25ce<\/td>\nUnnecessary<\/td>\nHPS0491<\/a><\/td>\nHPS0492<\/td>\nHPS0493<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\nPMID: 23193063<\/a>
\n24399248<\/a><\/td>\n<\/tr>\n
4<\/td>\n<\/td>\n<\/td>\nHPS0510<\/a><\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
\u25ce<\/td>\nUnnecessary<\/td>\nHPS0842<\/td>\nHPS0843<\/td>\nHPS0844<\/td>\nHPS0845<\/td>\nHPS0846<\/td>\nHPS0847<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
5<\/td>\n\u25ce<\/td>\nUnnecessary<\/td>\nHPS0830<\/a><\/td>\nHPS0831<\/td>\nHPS0832<\/td>\nHPS0833<\/td>\nHPS0834<\/td>\nHPS0835<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
6<\/td>\n\u25ce<\/td>\nUnnecessary<\/td>\nHPS0848<\/a><\/td>\nHPS0849<\/td>\nHPS0850<\/td>\nHPS0851<\/td>\nHPS0852<\/td>\nHPS0853<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
Parkinson’s disease (PD), Familial type, PARK2<\/td>\n1<\/td>\n<\/td>\n<\/td>\nHPS0097<\/a><\/td>\nHPS0098<\/td>\nHPS0099<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\nPMID: 23039195 <\/a><\/td>\n<\/tr>\n
<\/a>2<\/td>\n<\/td>\n<\/td>\nHPS0304<\/td>\nHPS0305<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\nPMID: 23039195 <\/a><\/td>\n<\/tr>\n
7. Corticobasal degeneration (CBD\uff09<\/strong><\/span> <\/a><\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
Corticobasal degeneration (CBD\uff09<\/td>\n1<\/td>\n\u25ce<\/td>\nUnnecessary<\/td>\nHPS2401<\/a><\/td>\nHPS2402<\/td>\nHPS2403<\/td>\nHPS2404<\/td>\nHPS2405<\/td>\nHPS2406<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
8. Huntington\u2019s disease<\/span><\/strong> <\/a><\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
Huntington’s disease<\/td>\n1<\/td>\n<\/td>\n<\/td>\nHPS0263<\/a><\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
Huntington’s disease, mutation in IT15<\/td>\n2<\/td>\n\u25ce<\/td>\nUnnecessary<\/td>\nHPS2377<\/a><\/td>\nHPS2378<\/td>\nHPS2379<\/td>\nHPS2380<\/td>\nHPS2381<\/td>\nHPS2382<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
9. Charcot-Marie-Tooth disease<\/span><\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
Charcot-Marie-Tooth disease<\/td>\n1<\/td>\n<\/td>\n<\/td>\nHPS0426<\/a><\/td>\nHPS0427<\/td>\nHPS0428<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
2<\/td>\n<\/td>\n<\/td>\nHPS0429<\/a><\/td>\nHPS0430<\/td>\nHPS0431<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
3<\/td>\n<\/td>\n<\/td>\nHPS0433<\/a><\/td>\nHPS0434<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
4<\/td>\n<\/td>\n<\/td>\nHPS0507<\/a><\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
5<\/td>\n<\/td>\n<\/td>\nHPS0508<\/a><\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
6<\/td>\n\u25ce<\/td>\nUnnecessary<\/td>\nHPS0552<\/a><\/td>\nHPS0553<\/a> <\/td>\nHPS0554<\/a> <\/td>\nHPS0555<\/td>\nHPS0556<\/td>\nHPS0557<\/td>\nHPS1047<\/a> <\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
7<\/td>\n<\/td>\n<\/td>\nHPS1048<\/a> <\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
8<\/a><\/td>\n<\/td>\n<\/td>\nHPS1049<\/a> <\/td>\nHPS1718<\/a> <\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
9<\/td>\n<\/td>\n<\/td>\nHPS1050<\/a> <\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
10<\/td>\n<\/td>\n<\/td>\nHPS1814<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
<\/a>11<\/td>\n<\/td>\n<\/td>\nHPS1815<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
10. Myasthenia Gravis (MG)<\/span><\/strong> <\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
Myasthenia Gravis (MG), s,positiveibranUAChRantibody<\/td>\n1<\/td>\n\u25ce<\/td>\nUnnecessary<\/td>\nHPS2220<\/a><\/td>\nHPS2221<\/td>\nHPS2222<\/td>\nHPS2223<\/td>\nHPS2224<\/td>\nHPS2225<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
11. Congenital myasthenic syndrome<\/span><\/strong><\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
Congenital myasthenic syndrome<\/td>\n1<\/td>\n\u25ce<\/td>\nUnnecessary<\/td>\nHPS0983<\/td>\nHPS0984<\/td>\nHPS0985<\/td>\nHPS0986<\/td>\nHPS0987<\/td>\nHPS0988<\/td>\nHPS0989<\/td>\nHPS0990<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
2<\/td>\n\u25ce<\/td>\nUnnecessary<\/td>\nHPS1066<\/a><\/td>\nHPS1067<\/td>\nHPS1068<\/td>\nHPS1069<\/td>\nHPS1070<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
3<\/td>\n\u25ce<\/td>\nUnnecessary<\/td>\nHPS1845<\/td>\nHPS1846<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
4<\/td>\n\u25ce<\/td>\nUnnecessary<\/td>\nHPS1850<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
5<\/td>\n\u25ce<\/td>\nUnnecessary<\/td>\nHPS1851<\/td>\nHPS1852<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
6<\/a><\/td>\n\u25ce<\/td>\nUnnecessary<\/td>\nHPS1855<\/td>\nHPS3523<\/td>\nHPS3524<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
Congenital myasthenic syndrome mutation in GFPT1<\/td>\n1<\/td>\n\u25ce<\/td>\nUnnecessary<\/td>\nHPS2894<\/a><\/td>\nHPS2895<\/td>\nHPS2896<\/td>\nHPS2897<\/td>\nHPS2898<\/td>\nHPS2899<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
12. Multiple sclerosis (MS) \/ Neuromyelitis Optica Spectrum Disorders (NMOSD)<\/span><\/strong><\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
Multiple sclerosis (MS) \/ Neuromyelitis Optica Spectrum Disorders (NMOSD), Neuromyelitis Optica<\/td>\n1<\/td>\n\u25ce<\/td>\nUnnecessary<\/td>\nHPS2912<\/a><\/td>\nHPS2913<\/td>\nHPS2914<\/td>\nHPS2915<\/td>\nHPS2916<\/td>\nHPS2917<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
Multiple sclerosis (MS) \/ Neuromyelitis Optica, relapsing-remitting MS<\/a><\/td>\n1<\/td>\n\u25ce<\/td>\nUnnecessary<\/td>\nHPS1454<\/a><\/td>\nHPS1455<\/td>\nHPS1456<\/td>\nHPS1457<\/td>\nHPS1458<\/td>\nHPS1459<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
2<\/td>\n\u25ce<\/td>\nUnnecessary<\/td>\nHPS3137<\/td>\nHPS3138<\/td>\nHPS3139<\/td>\nHPS3140<\/td>\nHPS3141<\/td>\nHPS3142<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
Multiple sclerosis (MS) \/ Neuromyelitis Optica, secondary progressive multiple\u00a0sclerosis<\/td>\n1<\/td>\n\u25ce<\/td>\nUnnecessary<\/td>\nHPS1526<\/a><\/td>\nHPS1527<\/td>\nHPS1528<\/td>\nHPS1529<\/td>\nHPS1530<\/td>\nHPS1531<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
13. Chronic inflammatory demyelinating polyneuropathy (CIDP) \/ multifocal motor neuropathy (MMN)<\/span><\/strong><\/a><\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
Chronic inflammatory demyelinating polyneuropathy (CIDP) \/ multifocal motor neuropathy (MMN), mortor dominant<\/td>\n1<\/td>\n\u25ce<\/td>\nUnnecessary<\/td>\nHPS1544<\/td>\nHPS1545<\/td>\nHPS1546<\/td>\nHPS1547<\/td>\nHPS1548<\/td>\nHPS1549<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
Chronic inflammatory demyelinating polyneuropathy (CIDP)<\/td>\n1<\/td>\n\u25ce<\/td>\nUnnecessary<\/td>\nHPS2174<\/td>\nHPS2175<\/td>\nHPS2176<\/td>\nHPS2177<\/td>\nHPS2178<\/td>\nHPS2179<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
14. Inclusion body myositis<\/span><\/a><\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
Inclusion body myositis<\/td>\n1<\/td>\n<\/td>\n<\/td>\nHPS0183*<\/a><\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
<\/td>\n2<\/td>\n<\/td>\n<\/td>\nHPS0351<\/a><\/td>\nHPS0352<\/a><\/td>\nHPS0353<\/a><\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
<\/td>\n3<\/td>\n<\/td>\n<\/td>\nHPS3987 \"NEW\"<\/td>\nHPS3988 \"NEW\"<\/td>\nHPS3989 \"NEW\"<\/td>\nHPS3990 \"NEW\"<\/td>\nHPS3991 \"NEW\"<\/td>\nHPS3992 \"NEW\"<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
15. Crow\u2010Fukase syndrome<\/span><\/strong><\/a><\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
Crow\u2010Fukase syndrome<\/td>\n1<\/td>\n\u25ce<\/td>\nUnnecessary<\/td>\nHPS1621<\/td>\nHPS1622<\/td>\nHPS1623<\/td>\nHPS1624<\/td>\nHPS1625<\/td>\nHPS1626<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
Crow\u2010Fukase syndrome, possible CFS<\/td>\n2<\/td>\n\u25ce<\/td>\nUnnecessary<\/td>\nHPS2347<\/td>\nHPS2348<\/td>\nHPS2349<\/td>\nHPS2350<\/td>\nHPS2351<\/td>\nHPS2352<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
16. Multiple system atrophy (MSA)<\/span><\/strong><\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
Multiple system atrophy (MSA)<\/td>\n1<\/td>\n\u25ce<\/td>\nUnnecessary<\/td>\nHPS0772<\/a><\/td>\nHPS0773<\/td>\nHPS0774<\/td>\nHPS0775<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
2<\/td>\n\u25ce<\/td>\nUnnecessary<\/td>\nHPS0818<\/a><\/td>\nHPS0819<\/td>\nHPS0820<\/td>\nHPS0821<\/td>\nHPS0822<\/td>\nHPS0823<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
3<\/td>\n<\/td>\nUnnecessary<\/td>\nHPS1737<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
4<\/td>\n<\/td>\nUnnecessary<\/td>\nHPS1738<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
5<\/td>\n<\/td>\nUnnecessary<\/td>\nHPS1739<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
<\/a>6<\/td>\n\u25ce<\/td>\nUnnecessary<\/td>\nHPS2214<\/a><\/td>\nHPS2215<\/td>\nHPS2216<\/td>\nHPS2217<\/td>\nHPS2218<\/td>\nHPS2219<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
17. Spinocerebellar Degeneration<\/span><\/strong><\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
Spinocerebellar Degeneration<\/td>\n1<\/td>\n<\/td>\n<\/td>\nHPS0422<\/td>\nHPS0424<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\nPMID: 28918022 <\/a><\/td>\n<\/tr>\n
2<\/td>\n<\/td>\n<\/td>\nHPS0425<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
3<\/td>\n\u25ce<\/td>\nUnnecessary<\/td>\nHPS0464<\/td>\nHPS0465<\/td>\nHPS0466<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\nPMID: 23193063<\/a>
\n24399248<\/a><\/td>\n<\/tr>\n
4<\/td>\n\u25ce<\/td>\nUnnecessary<\/td>\nHPS0467<\/td>\nHPS0468<\/td>\nHPS0469<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\nPMID: 23193063<\/a>
\n24399248<\/a><\/td>\n<\/tr>\n
5<\/td>\n\u25ce<\/td>\nUnnecessary<\/td>\nHPS0570<\/td>\nHPS0571<\/td>\nHPS0572<\/td>\nHPS0573<\/td>\nHPS0574<\/td>\nHPS0575<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
6<\/td>\n\u25ce<\/td>\nUnnecessary<\/td>\nHPS0582<\/td>\nHPS0583<\/td>\nHPS0584<\/td>\nHPS0585<\/td>\nHPS0586<\/td>\nHPS0587<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
7<\/td>\n\u25ce<\/td>\nUnnecessary<\/td>\nHPS0588<\/td>\nHPS0589<\/td>\nHPS0590<\/td>\nHPS0591<\/td>\nHPS0592<\/td>\nHPS0593<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
8<\/td>\n\u25ce<\/td>\nUnnecessary<\/td>\nHPS0594<\/td>\nHPS0595<\/td>\nHPS0596<\/td>\nHPS0597<\/td>\nHPS0598<\/td>\nHPS0599<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
9<\/td>\n\u25ce<\/td>\nUnnecessary<\/td>\nHPS0600<\/td>\nHPS0601<\/td>\nHPS0602<\/td>\nHPS0603<\/td>\nHPS0604<\/td>\nHPS0605<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
10<\/td>\n\u25ce<\/td>\nUnnecessary<\/td>\nHPS0606<\/td>\nHPS0607<\/td>\nHPS0608<\/td>\nHPS0609<\/td>\nHPS0610<\/td>\nHPS0611<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
11<\/td>\n\u25ce<\/td>\nUnnecessary<\/td>\nHPS0776<\/td>\nHPS0777<\/td>\nHPS0778<\/td>\nHPS0779<\/td>\nHPS0780<\/td>\nHPS0781<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
12<\/td>\n\u25ce<\/td>\nUnnecessary<\/td>\nHPS0806<\/td>\nHPS0807<\/td>\nHPS0808<\/td>\nHPS0809<\/td>\nHPS0810<\/td>\nHPS0811<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
13<\/td>\n\u25ce<\/td>\nUnnecessary<\/td>\nHPS0836<\/td>\nHPS0837<\/td>\nHPS0838<\/td>\nHPS0839<\/td>\nHPS0840<\/td>\nHPS0841<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
14<\/td>\n\u25ce<\/td>\nUnnecessary<\/td>\nHPS0866<\/td>\nHPS0867<\/td>\nHPS0868<\/td>\nHPS0869<\/td>\nHPS0870<\/td>\nHPS0871<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
<\/td>\n<\/td>\nHPS1034<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\nPMID: 28918022 <\/a><\/td>\n<\/tr>\n
15<\/td>\n\u25ce<\/td>\nUnnecessary<\/td>\nHPS0872<\/td>\nHPS0873<\/td>\nHPS0874<\/td>\nHPS0875<\/td>\nHPS0876<\/td>\nHPS0877<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
<\/td>\n<\/td>\nHPS1035<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
16<\/td>\n<\/td>\n<\/td>\nHPS1725<\/a><\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
17<\/td>\n<\/td>\n<\/td>\nHPS1726<\/td>\nHPS1727<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
Spinocerebellar Degeneration, sporadic<\/td>\n1<\/td>\n\u25ce<\/td>\nUnnecessary<\/td>\nHPS2226<\/a><\/td>\nHPS2227<\/td>\nHPS2228<\/td>\nHPS2229<\/td>\nHPS2230<\/td>\nHPS2231<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
Spinocerebellar ataxia type 1<\/td>\n1<\/td>\n<\/td>\nUnnecessary<\/td>\nHPS1740<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
2<\/td>\n<\/td>\nUnnecessary<\/td>\nHPS1741<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
Spinocerebellar Degeneration<\/td>\n1<\/td>\n<\/td>\n<\/td>\nHPS1898<\/td>\nHPS1899<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
Spinocerebellar Degeneration<\/td>\n1<\/td>\n<\/td>\n<\/td>\nHPS1074<\/a><\/td>\nHPS1772<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
2<\/td>\n<\/td>\n<\/td>\nHPS1773<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
3<\/td>\n<\/td>\n<\/td>\nHPS1774<\/td>\nHPS1775<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
4<\/td>\n<\/td>\n<\/td>\nHPS1890<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
5<\/td>\n<\/td>\n<\/td>\nHPS1892<\/td>\nHPS1893<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
6<\/td>\n<\/td>\n<\/td>\nHPS1894<\/td>\nHPS1895<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
7<\/td>\n<\/td>\n<\/td>\nHPS1896<\/td>\nHPS1897<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
Spinocerebellar Degeneration<\/a><\/td>\n1<\/td>\n<\/td>\n<\/td>\nHPS1887<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
2<\/td>\n<\/td>\n<\/td>\nHPS1888<\/td>\nHPS1889<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
18. Moyamoya disease<\/span><\/strong><\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
Moyamoya disease<\/td>\n1<\/td>\n<\/td>\n<\/td>\nHPS0215*<\/a><\/td>\nHPS0216*<\/a><\/td>\nHPS0217*<\/a><\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
2<\/a><\/td>\n\u25ce<\/td>\nUnnecessary<\/td>\nHPS2066<\/td>\nHPS2067<\/td>\nHPS2068<\/td>\nHPS2069<\/td>\nHPS2070<\/td>\nHPS2071<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
3<\/td>\n\u25ce<\/td>\nUnnecessary<\/td>\nHPS3012<\/td>\nHPS3013<\/td>\nHPS3014<\/td>\nHPS3015<\/td>\nHPS3016<\/td>\nHPS3017<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
Moyamoya disease, bilateral type<\/td>\n1<\/td>\n\u25ce<\/td>\nUnnecessary<\/td>\nHPS1667<\/td>\nHPS1668<\/td>\nHPS1669<\/td>\nHPS1670<\/td>\nHPS1671<\/td>\nHPS1672<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
19. Subacute sclerosing panencephalitis (SSPE)<\/span><\/strong><\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
Subacute sclerosing panencephalitis (SSPE)<\/td>\n1<\/td>\n\u25ce<\/td>\nUnnecessary<\/td>\nHPS1638<\/td>\nHPS1639<\/td>\nHPS1640<\/td>\nHPS1641<\/td>\nHPS1642<\/td>\nHPS1643<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
2<\/a><\/td>\n\u25ce<\/td>\nUnnecessary<\/td>\nHPS2430<\/td>\nHPS2431<\/td>\nHPS2432<\/td>\nHPS2433<\/td>\nHPS2434<\/td>\nHPS2435<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
20. Progressive multifocal leukoencephalopathy (PML)<\/span><\/strong><\/a><\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
Progressive multifocal leukoencephalopathy (PML)<\/td>\n1<\/td>\n\u25ce<\/td>\nUnnecessary<\/td>\nHPS2280<\/td>\nHPS2281<\/td>\nHPS2282<\/td>\nHPS2283<\/td>\nHPS2284<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
21. Fahr disease<\/span><\/strong><\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
Fahr disease<\/td>\n1<\/td>\n<\/td>\n<\/td>\nHPS1036<\/td>\nHPS1705<\/a> <\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
2<\/td>\n<\/td>\n<\/td>\nHPS1037<\/a><\/td>\nHPS1708<\/a> <\/td>\nHPS1709<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
3<\/td>\n<\/td>\n<\/td>\nHPS1038<\/a> <\/td>\nHPS1710<\/td>\nHPS1711<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
4<\/td>\n<\/td>\n<\/td>\nHPS1053<\/a> <\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
5<\/a><\/td>\n<\/td>\n<\/td>\nHPS1054<\/a> <\/td>\nHPS3842<\/a><\/td>\nHPS3843<\/a><\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
6<\/td>\n<\/td>\n<\/td>\nHPS1706<\/a> <\/td>\nHPS1707<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
7<\/td>\n<\/td>\n<\/td>\nHPS3844<\/a><\/td>\nHPS3845<\/a>\/td><\/p>\nHPS3846<\/a><\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
22. Ullrich congenital muscular dystrophy<\/span><\/strong><\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
Ullrich congenital muscular dystrophy<\/a><\/td>\n1<\/td>\n<\/td>\nUnnecessary<\/td>\nHPS1849<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
Ullrich congenital muscular dystrophy<\/td>\n1<\/td>\n<\/td>\n<\/td>\nHPS3862<\/td>\nHPS3863<\/td>\nHPS3864<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
23. Distal Myopathy<\/span><\/strong><\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
Distal Myopathy<\/td>\n1<\/td>\n\u25ce<\/td>\nUnnecessary<\/td>\nHPS2971<\/td>\nHPS2972<\/td>\nHPS2973<\/td>\nHPS2974<\/td>\nHPS2975<\/td>\nHPS2976<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
Distal Myopathy, DMRV \/ GNE myopathy<\/td>\n1<\/td>\n\u25ce<\/td>\nUnnecessary<\/td>\nHPS1436<\/td>\nHPS1437<\/td>\nHPS1438<\/td>\nHPS1439<\/td>\nHPS1440<\/td>\nHPS1441<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
2<\/a><\/td>\n\u25ce<\/td>\nUnnecessary<\/td>\nHPS2126<\/td>\nHPS2127<\/td>\nHPS2128<\/td>\nHPS2129<\/td>\nHPS2130<\/td>\nHPS2131<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
Miyoshi myopathy<\/td>\n1<\/td>\n<\/td>\n<\/td>\nHPS0390<\/a><\/td>\nHPS0391<\/td>\nHPS0392<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
2<\/td>\n<\/td>\n<\/td>\nHPS0397<\/a><\/td>\nHPS0398<\/td>\nHPS0399<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
3<\/td>\n<\/td>\n<\/td>\nHPS0408<\/a><\/td>\nHPS0409<\/td>\nHPS0410<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
4<\/td>\n<\/td>\n<\/td>\nHPS1029<\/td>\nHPS1030<\/td>\nHPS1031<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
Miyoshi myopathy<\/td>\n1<\/td>\n<\/td>\nHPS0961<\/td>\nHPS0962<\/td>\nHPS0963<\/td>\nHPS0964<\/td>\nHPS0965<\/td>\nHPS0966<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
2<\/a><\/td>\n<\/td>\n<\/td>\nHPS0973*<\/td>\nHPS0974*<\/td>\nHPS0975*<\/td>\nHPS097*<\/td>\nHPS0977*<\/td>\nHPS0978*<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
24. Bethlem myopathy<\/span><\/strong><\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
Bethlem myopathy<\/td>\n1<\/td>\n<\/td>\n<\/td>\nHPS1017<\/td>\nHPS1018<\/td>\nHPS1019<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
2<\/a><\/td>\n\u25ce<\/td>\nUnnecessary<\/td>\nHPS1847<\/td>\nHPS1848<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
3<\/td>\n\u25ce<\/td>\nUnnecessary<\/td>\nHPS3209<\/td>\nHPS3210<\/td>\nHPS3211<\/td>\nHPS3212<\/td>\nHPS3213<\/td>\nHPS3214<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
25. Danon disease<\/span><\/strong><\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
Danon disease<\/td>\n1<\/td>\n<\/td>\n<\/td>\nHPS1805<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
2<\/td>\n<\/td>\n<\/td>\nHPS3664<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
26. Schwartz-Jampel syndrome (SJS)<\/span><\/strong><\/a><\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
Schwartz-Jampel syndrome (SJS)<\/td>\n1<\/td>\n<\/td>\n<\/td>\nHPS1023<\/td>\nHPS1024<\/td>\nHPS1025<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
27. Congenital myopathy<\/span><\/strong><\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
Congenital fiber type disproportion disease<\/td>\n1<\/td>\n<\/td>\n<\/td>\nHPS0143*<\/a><\/td>\nHPS0144*<\/a><\/td>\nHPS0145*<\/a><\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
Myotubular myopathy<\/td>\n1<\/td>\n<\/td>\n<\/td>\nHPS1020<\/td>\nHPS1021<\/td>\nHPS1022<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
2<\/td>\n<\/td>\n<\/td>\nHPS3865<\/td>\nHPS3866<\/td>\nHPS3867<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
Congenital myopathy, mutation in MTM11<\/a><\/td>\n1<\/td>\n\u25ce<\/td>\nUnnecessary<\/td>\nHPS2882<\/a><\/td>\nHPS2883<\/td>\nHPS2884<\/td>\nHPS2885<\/td>\nHPS2886<\/td>\nHPS2887<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
28. Muscular dystrophy<\/span><\/strong><\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
Muscular dystrophy, Duchenne type<\/td>\n1<\/td>\n<\/td>\n<\/td>\nHPS0164*<\/a><\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
2<\/td>\n<\/td>\n<\/td>\nHPS0169*<\/a><\/td>\nHPS0171*<\/a><\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
3<\/td>\n<\/td>\n<\/td>\nHPS0312<\/a><\/td>\nHPS0313<\/a><\/td>\nHPS0314<\/a><\/td>\nHPS0315<\/td>\nHPS0316<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
4<\/td>\n<\/td>\n<\/td>\nHPS1026<\/td>\nHPS1027<\/td>\nHPS1028<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
5<\/td>\n<\/td>\n<\/td>\nHPS3944<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
6<\/td>\n<\/td>\n<\/td>\nHPS3945<\/td>\nHPS3946<\/td>\nHPS3947<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
7<\/td>\n<\/td>\n<\/td>\nHPS3959<\/td>\nHPS3960<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
Muscular dystrophy, Duchenne type, deletion of exon 44, dystrophin gene<\/td>\n1<\/td>\n<\/td>\n<\/td>\nHPS0383<\/a><\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n\u00a0PMID: 25434822<\/a> PMID: 30171543<\/a> PMID: 33798449<\/a><\/td>\n<\/tr>\n
Correction of the dystrophin gene<\/td>\nHPS0384<\/a><\/td>\nHPS0385<\/a><\/td>\nHPS0386<\/a><\/td>\nHPS0387<\/a><\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n\u00a0PMID: 25434822<\/a> PMID: 33798449<\/a><\/td>\n<\/tr>\n
Muscular dystrophy, Duchenne type (manifesting carrier)<\/td>\n1<\/td>\n<\/td>\n<\/td>\nHPS0317<\/a><\/td>\nHPS0318<\/td>\nHPS0319<\/a><\/td>\nHPS0320<\/td>\nHPS0321<\/td>\nHPS0322*<\/a><\/td>\nHPS0323* <\/a><\/td>\nHPS0324*<\/td>\nHPS0325*<\/td>\n<\/td>\n<\/tr>\n
Muscular dystrophy, Becker type<\/td>\n1<\/td>\n<\/td>\n<\/td>\nHPS0233*<\/a><\/td>\nHPS0234*<\/a><\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
Muscular dystrophy, Limb-girdle type<\/td>\n1<\/td>\n<\/td>\n<\/td>\nHPS0200*<\/a><\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
Muscular dystrophy, Miyoshi type<\/td>\n1<\/td>\n<\/td>\n<\/td>\nHPS0133*<\/a><\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
Muscular dystrophy, Myotonic Dystrophy<\/td>\n1<\/td>\n<\/td>\n<\/td>\nHPS0540<\/a><\/td>\nHPS0541<\/td>\nHPS0542<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
2<\/td>\n<\/td>\n<\/td>\nHPS1032<\/a><\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
3<\/td>\n<\/td>\n<\/td>\nHPS1033<\/a><\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
4<\/td>\n<\/td>\n<\/td>\nHPS1051<\/a> <\/td>\nHPS1703<\/td>\nHPS1704<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
5<\/td>\n<\/td>\n<\/td>\nHPS1052<\/a><\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
Muscular dystrophy, Myotonic Dystrophy, type 1<\/td>\n1<\/td>\n<\/td>\n<\/td>\nHPS0393<\/a><\/td>\nHPS0394<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
2<\/td>\n<\/td>\n<\/td>\nHPS0395<\/a><\/td>\nHPS0396<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
Muscular channelopathy<\/td>\n1<\/td>\n<\/td>\n<\/td>\nHPS0967<\/td>\nHPS0968<\/td>\nHPS0969<\/td>\nHPS0970<\/td>\nHPS0971<\/td>\nHPS0972<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
2<\/td>\n<\/td>\n<\/td>\nHPS0979<\/td>\nHPS0980<\/td>\nHPS0981<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
3<\/td>\n<\/td>\n<\/td>\nHPS0991<\/td>\nHPS0992<\/td>\nHPS0993<\/td>\nHPS0994<\/td>\nHPS0995<\/td>\nHPS0996<\/td>\nHPS0997<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
4<\/td>\n<\/td>\n<\/td>\nHPS1058<\/td>\nHPS1059<\/td>\nHPS1060<\/td>\nHPS1061<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
Muscular dystrophy, duplication of exons 3-7 of DMD gene<\/td>\n1<\/td>\n\u25ce<\/td>\nUnnecessary<\/td>\nHPS1367<\/a><\/td>\nHPS1368<\/td>\nHPS1369<\/td>\nHPS1370<\/td>\nHPS1371<\/td>\nHPS1372<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
Muscular dystrophy, deletion of exons 47-52 of DMD gene<\/td>\n1<\/td>\n\u25ce<\/td>\nUnnecessary<\/td>\nHPS1337<\/a><\/td>\nHPS1338<\/td>\nHPS1339<\/td>\nHPS1340<\/td>\nHPS1341<\/td>\nHPS1342<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
2<\/td>\n\u25ce<\/td>\nUnnecessary<\/td>\nHPS1349<\/a><\/td>\nHPS1350<\/td>\nHPS1351<\/td>\nHPS1352<\/td>\nHPS1353<\/td>\nHPS1354<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
Muscular dystrophy, deletion of exons 49-50 of DMD gene<\/td>\n1<\/td>\n\u25ce<\/td>\nUnnecessary<\/td>\nHPS1343<\/a><\/td>\nHPS1344<\/td>\nHPS1345<\/td>\nHPS1346<\/td>\nHPS1347<\/td>\nHPS1348<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
Muscular dystrophy, deletion of exons 49-52 of DMD gene<\/td>\n1<\/a><\/td>\n\u25ce<\/td>\nUnnecessary<\/td>\nHPS1355<\/a><\/td>\nHPS1356<\/td>\nHPS1357<\/td>\nHPS1358<\/td>\nHPS1359<\/td>\nHPS1360<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
Muscular dystrophy, congenital, Merosin-deficient 1A<\/td>\n1<\/td>\n<\/td>\n<\/td>\nHPS3859<\/td>\nHPS3860<\/td>\nHPS3861<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
Facio-scapulo-humeral muscular dystrophy, type2<\/td>\n1<\/td>\n<\/td>\n<\/td>\nHPS3941<\/td>\nHPS3942<\/td>\nHPS3943<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
2<\/td>\n<\/td>\n<\/td>\nHPS3962<\/td>\nHPS3963<\/td>\nHPS3964<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
29. Periodic paralysis<\/span><\/strong><\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
Periodic paralysis<\/a><\/td>\n1<\/td>\n\u25ce<\/td>\nUnnecessary<\/td>\nHPS1062<\/td>\nHPS1063<\/td>\nHPS1064<\/td>\nHPS1065<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
30. Syringomyelia\/span><\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
Syringomyelia<\/a><\/td>\n1<\/td>\n\u25ce<\/td>\nUnnecessary<\/td>\nHPS2285<\/td>\nHPS2286<\/td>\nHPS2287<\/td>\nHPS2288<\/td>\nHPS2289<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
31. Isaacs syndrome<\/span><\/strong><\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
Isaacs syndrome<\/a><\/td>\n1<\/td>\n\u25ce<\/td>\nUnnecessary<\/td>\nHPS2238<\/td>\nHPS2239<\/td>\nHPS2240<\/td>\nHPS2241<\/td>\nHPS2242<\/td>\nHPS2243<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
32. Hereditary dystonia<\/span><\/strong><\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
Hereditary dystonia
\n\u907a\u4f1d\u6027\u30b8\u30b9\u30c8\u30cb\u30a2<\/td>\n		1<\/td>\n<\/td>\n<\/td>\nHPS1039<\/td>\nHPS1712<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
2<\/a><\/td>\n<\/td>\n<\/td>\nHPS1040<\/td>\nHPS1713<\/td>\nHPS1714<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
3<\/a><\/td>\n<\/td>\n<\/td>\nHPS1816<\/td>\nHPS1817<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
4<\/td>\n\u25ce<\/td>\nUnnecessary<\/td>\nHPS1942<\/td>\nHPS1943<\/td>\nHPS1944<\/td>\nHPS1945<\/td>\nHPS1946<\/td>\nHPS1947<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
33. Neuroferritinopathy<\/span><\/strong><\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
Neuroferritinopathy<\/a><\/td>\n<\/a>1<\/td>\n<\/td>\nUnnecessary<\/td>\nHPS1785<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
34. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) <\/span><\/strong><\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
CADASIL\uff08cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy\uff09<\/td>\n1<\/td>\n<\/td>\n<\/td>\nHPS3847<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
2<\/td>\n<\/td>\n<\/td>\nHPS3848<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
3<\/a><\/td>\n<\/td>\n<\/td>\nHPS3849<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
4<\/td>\n<\/td>\n<\/td>\nHPS3850<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
5<\/td>\n<\/td>\n<\/td>\nHPS3851<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
6<\/td>\n<\/td>\n<\/td>\nHPS3852<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
7<\/td>\n<\/td>\n<\/td>\nHPS3853<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
35. Perry syndrome<\/span><\/strong><\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
Perry syndrome<\/a><\/td>\n1<\/td>\n<\/td>\n<\/td>\nHPS1041<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
\u25ce<\/td>\nUnnecessary<\/td>\nHPS1715<\/td>\nHPS1716<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
36. Frontotemporal lobar degeneration (FTLD)<\/span><\/strong><\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
Frontotemporal lobar degeneration (FTLD),Semantic Dementia<\/td>\n1<\/td>\n\u25ce<\/td>\nUnnecessary<\/td>\nHPS1568<\/a><\/td>\nHPS1569<\/td>\nHPS1570<\/td>\nHPS1571<\/td>\nHPS1572<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
2<\/td>\n\u25ce<\/td>\nUnnecessary<\/td>\nHPS1906<\/a><\/td>\nHPS1907<\/td>\nHPS1908<\/td>\nHPS1909<\/td>\nHPS1910<\/td>\nHPS1911<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
Frontotemporal dementia (FTD)<\/a><\/td>\n1<\/td>\n\u25ce<\/td>\nUnnecessary<\/td>\nHPS0470<\/a><\/td>\nHPS0471<\/td>\nHPS0472<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\nPMID: 23193063<\/a>
\n24399248<\/a><\/td>\n<\/tr>\n
37. Acute encephalopathy with biphasic seizures and late reduced diffusion (AESD)<\/span><\/strong><\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
Acute encephalopathy with biphasic seizures and late reduced diffusion (AESD)<\/a><\/td>\n1<\/a><\/td>\n\u25ce<\/td>\nUnnecessary<\/td>\nHPS1924<\/td>\nHPS1925<\/td>\nHPS1926<\/td>\nHPS1927<\/td>\nHPS1928<\/td>\nHPS1929<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
38. Congenital insensitivity to pain with anhidrosis<\/span><\/strong><\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
Congenital insensitivity to pain with anhidrosis<\/td>\n1<\/td>\n\u25ce<\/td>\nUnnecessary<\/td>\nHPS1076<\/td>\nHPS1077<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
Congenital insensitivity to pain with anhidrosis (CIPA), unknown genetic etiology<\/td>\n1<\/td>\n\u25ce<\/td>\nUnnecessary<\/td>\nHPS2012<\/td>\nHPS2013<\/td>\nHPS2014<\/td>\nHPS2015<\/td>\nHPS2016<\/td>\nHPS2017<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
39. Alexander disease<\/span><\/strong><\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
Alexander disease type 2\uff08GFAP mutation\uff09<\/td>\n1<\/td>\n\u25ce<\/td>\nUnnecessary<\/td>\nHPS1442<\/td>\nHPS1443<\/td>\nHPS1444<\/td>\nHPS1445<\/td>\nHPS1446<\/td>\nHPS1447<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
Alexander disease, type 2<\/td>\n1<\/td>\n\u25ce<\/td>\nUnnecessary<\/td>\nHPS2341<\/td>\nHPS2342<\/td>\nHPS2343<\/td>\nHPS2344<\/td>\nHPS2345<\/td>\nHPS2346<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
Alexander disease, type 3<\/td>\n1<\/td>\n\u25ce<\/td>\nUnnecessary<\/td>\nHPS2792<\/td>\nHPS2793<\/td>\nHPS2794<\/td>\nHPS2795<\/td>\nHPS2796<\/td>\nHPS2797<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
Alexander disease<\/a><\/td>\n1<\/td>\n\u25ce<\/td>\nUnnecessary<\/td>\nHPS2786<\/td>\nHPS2787<\/td>\nHPS2788<\/td>\nHPS2789<\/td>\nHPS2790<\/td>\nHPS2791<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
2<\/td>\n<\/td>\n<\/td>\nHPS3529<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
40. Aicardi syndrome<\/span><\/strong><\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
Aicardi syndrome<\/a><\/td>\n1<\/td>\n\u25ce<\/td>\nUnnecessary<\/td>\nHPS2780<\/td>\nHPS2781<\/td>\nHPS2782<\/td>\nHPS2783<\/td>\nHPS2784<\/td>\nHPS2785<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
41. Hemimegalencephaly<\/span><\/strong><\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
Hemimegalencephaly<\/a><\/td>\n1<\/td>\n\u25ce<\/td>\nUnnecessary<\/td>\nHPS2720<\/td>\nHPS2721<\/td>\nHPS2722<\/td>\nHPS2723<\/td>\nHPS2724<\/td>\nHPS2725<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
42. Focal cortical dysplasia (FCD)<\/span><\/strong><\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
Focal cortical dysplasia (FCD)<\/a><\/td>\n1<\/td>\n\u25ce<\/td>\nUnnecessary<\/td>\nHPS1591<\/td>\nHPS1592<\/td>\nHPS1593<\/td>\nHPS1594<\/td>\nHPS1595<\/td>\nHPS1596<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
Focal cortical dysplasia (FCD), type 2a<\/td>\n1<\/td>\n\u25ce<\/td>\nUnnecessary<\/td>\nHPS2442<\/td>\nHPS2443<\/td>\nHPS2444<\/td>\nHPS2445<\/td>\nHPS2446<\/td>\nHPS2447<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
43.Neuronal migration disorder<\/span><\/strong><\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
Neuronal migration disorder<\/td>\n1<\/td>\n\u25ce<\/td>\nUnnecessary<\/td>\nHPS1615<\/td>\nHPS1616<\/td>\nHPS1617<\/td>\nHPS1618<\/td>\nHPS1619<\/td>\nHPS1620<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
Neuronal migration disorder, polymicrogyria \/ unknown genetic etiology<\/a><\/td>\n1<\/td>\n\u25ce<\/td>\nUnnecessary<\/td>\nHPS2156<\/td>\nHPS2157<\/td>\nHPS2158<\/td>\nHPS2159<\/td>\nHPS2160<\/td>\nHPS2161<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
Neuronal migration disorder, mutation in PIK3R2<\/td>\n1<\/td>\n\u25ce<\/td>\nUnnecessary<\/td>\nHPS2936<\/td>\nHPS2937<\/td>\nHPS2938<\/td>\nHPS2939<\/td>\nHPS2940<\/td>\nHPS2941<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
44. Dravet syndrom<\/span><\/strong><\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
Dravet syndrome, heterozygous mutation of SCN1A<\/td>\n1<\/td>\n\u25ce<\/td>\nUnnecessary<\/td>\nHPS1460<\/a><\/td>\nHPS1461<\/a><\/td>\nHPS1462<\/a><\/td>\nHPS1463<\/td>\nHPS1464<\/td>\nHPS1465<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
Dravet syndrome, mutation of SCN1A<\/td>\n1<\/a><\/td>\n\u25ce<\/td>\nUnnecessary<\/td>\nHPS2096<\/a><\/td>\nHPS2097<\/a><\/td>\nHPS2098<\/a> <\/td>\nHPS2099<\/td>\nHPS2100<\/td>\nHPS2101<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
2<\/td>\n\u25ce<\/td>\nUnnecessary<\/td>\nHPS2834<\/a><\/td>\nHPS2835<\/a> <\/td>\nHPS2836<\/a> <\/td>\nHPS2837<\/td>\nHPS2838<\/td>\nHPS2839<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
45. Mesial temporal lobe epilepsy with hippocampal sclerosis<\/span><\/strong><\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
Mesial temporal lobe epilepsy with hippocampal sclerosis<\/td>\n1<\/td>\n\u25ce<\/td>\nUnnecessary<\/td>\nHPS1609<\/td>\nHPS1610<\/td>\nHPS1611<\/td>\nHPS1612<\/td>\nHPS1613<\/td>\nHPS1614<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
2<\/a><\/td>\n\u25ce<\/td>\nUnnecessary<\/td>\nHPS2436<\/td>\nHPS2437<\/td>\nHPS2438<\/td>\nHPS2439<\/td>\nHPS2440<\/td>\nHPS2441<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
46. Epilepsy with myoclonic absence (EMA)<\/span><\/strong><\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
Epilepsy with myoclonic absence (EMA)<\/a><\/td>\n1<\/td>\n\u25ce<\/td>\nUnnecessary<\/td>\nHPS1514<\/td>\nHPS1515<\/td>\nHPS1516<\/td>\nHPS1517<\/td>\nHPS1518<\/td>\nHPS1519<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
2<\/td>\n\u25ce<\/td>\nUnnecessary<\/td>\nHPS2319<\/td>\nHPS2320<\/td>\nHPS2321<\/td>\nHPS2322<\/td>\nHPS2323<\/td>\nHPS2324<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
47. Epilepsy with myoclonic-astatic seizures<\/span><\/strong><\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
Epilepsy with myoclonic-astatic seizures<\/a><\/td>\n1<\/td>\n\u25ce<\/td>\nUnnecessary<\/td>\nHPS1930<\/td>\nHPS1931<\/td>\nHPS1932<\/td>\nHPS1933<\/td>\nHPS1934<\/td>\nHPS1935<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
48. Lennox-Gastaut syndrome (LGS)<\/span><\/strong><\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
Lennox-Gastaut syndrome (LGS)<\/td>\n1<\/td>\n\u25ce<\/td>\nUnnecessary<\/td>\nHPS1603<\/a> <\/td>\nHPS1604<\/td>\nHPS1605<\/td>\nHPS1606<\/td>\nHPS1607<\/td>\nHPS1608<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
Lennox-Gastaut syndrome (LGS), inverted duplication of chromosome 15<\/td>\n1<\/a><\/td>\n\u25ce<\/td>\nUnnecessary<\/td>\nHPS2120<\/td>\nHPS2121<\/td>\nHPS2122<\/td>\nHPS2123<\/td>\nHPS2124<\/td>\nHPS2125<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
49. West syndrome<\/span><\/strong><\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
West syndrome<\/a><\/td>\n1<\/td>\n\u25ce<\/td>\nUnnecessary<\/td>\nHPS3224<\/a> <\/td>\nHPS3225<\/td>\nHPS3226<\/td>\nHPS3227<\/td>\nHPS3228<\/td>\nHPS3229<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
50. Ohtahara syndrome<\/span><\/strong><\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
Ohtahara syndrome, mutation of STXBP1<\/a><\/td>\n1<\/td>\n\u25ce<\/td>\nUnnecessary<\/td>\nHPS3179<\/a> <\/td>\nHPS3180<\/td>\nHPS3181<\/td>\nHPS3182<\/td>\nHPS3183<\/td>\nHPS3184<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
51. Hemiconvulsion-hemiplegia-epilepsy syndrome<\/span><\/strong><\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
Hemiconvulsion-hemiplegia-epilepsy syndrome, unknown genetic etiology<\/td>\n1<\/td>\n\u25ce<\/td>\nUnnecessary<\/td>\nHPS2048<\/td>\nHPS2049<\/td>\nHPS2050<\/td>\nHPS2051<\/td>\nHPS2052<\/td>\nHPS2053<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
2<\/a><\/td>\n\u25ce<\/td>\nUnnecessary<\/td>\nHPS2460<\/td>\nHPS2461<\/td>\nHPS2462<\/td>\nHPS2463<\/td>\nHPS2464<\/td>\nHPS2465<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
52.Ring chromosome 20 syndrome<\/span><\/strong><\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
Ring chromosome 20 syndrome<\/td>\n1<\/td>\n\u25ce<\/td>\nUnnecessary<\/td>\nHPS1421<\/a> <\/td>\nHPS1422<\/a><\/td>\nHPS1423<\/a><\/td>\nHPS1424<\/a><\/td>\nHPS1425<\/a><\/td>\nHPS1426<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
2<\/a><\/td>\n\u25ce<\/td>\nUnnecessary<\/td>\nHPS2138<\/a> <\/td>\nHPS2139<\/a><\/td>\nHPS2140<\/a><\/td>\nHPS2141<\/td>\nHPS2142<\/a> <\/td>\nHPS2143<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
53.Rasmussen encephalitis<\/span><\/strong><\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
Rasmussen encephalitis<\/td>\n1<\/td>\n\u25ce<\/td>\nUnnecessary<\/td>\nHPS1585<\/td>\nHPS1586<\/td>\nHPS1587<\/td>\nHPS1588<\/td>\nHPS1589<\/td>\nHPS1590<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
Rasmussen encephalitis, Part A<\/td>\n1<\/a><\/td>\n\u25ce<\/td>\nUnnecessary<\/td>\nHPS2180<\/td>\nHPS2181<\/td>\nHPS2182<\/td>\nHPS2183<\/td>\nHPS2184<\/td>\nHPS2185<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
54. PCDH19 epilepsy<\/span><\/strong><\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
PCDH19 epilepsy, PCDH19 mutation<\/td>\n1<\/td>\n\u25ce<\/td>\nUnnecessary<\/td>\nHPS1655<\/td>\nHPS1656<\/td>\nHPS1657<\/td>\nHPS1658<\/td>\nHPS1659<\/td>\nHPS1660<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
2<\/a><\/td>\n\u25ce<\/td>\nUnnecessary<\/td>\nHPS2313<\/td>\nHPS2314<\/td>\nHPS2315<\/td>\nHPS2316<\/td>\nHPS2317<\/td>\nHPS2318<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
55. Epilepsy with continuous spikes and waves during slow sleep<\/span><\/trong><\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
Epilepsy with continuous spikes and waves during slow sleep, unknown genetic etiology<\/td>\n1<\/td>\n\u25ce<\/td>\nUnnecessary<\/td>\nHPS1644<\/td>\nHPS1645<\/td>\nHPS1646<\/td>\nHPS1647<\/td>\nHPS1648<\/td>\nHPS1649<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
2<\/td>\n\u25ce<\/td>\nUnnecessary<\/td>\nHPS2331<\/td>\nHPS2332<\/td>\nHPS2333<\/td>\nHPS2334<\/td>\nHPS2335<\/td>\nHPS2336<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
3<\/a><\/td>\n\u25ce<\/td>\nUnnecessary<\/td>\nHPS3326<\/td>\nHPS3327<\/td>\nHPS3328<\/td>\nHPS3329<\/td>\nHPS3330<\/td>\nHPS3331<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
56.Landau\u2015Kleffner syndrome<\/span><\/strong><\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
Landau\u2015Kleffner syndrome, unknown genetic etiology<\/a><\/td>\n1<\/td>\n\u25ce<\/td>\nUnnecessary<\/td>\nHPS2732<\/td>\nHPS2733<\/td>\nHPS2734<\/td>\nHPS2735<\/td>\nHPS2736<\/td>\nHPS2737<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
57. Rett syndrome<\/span><\/strong><\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
Rett syndrome<\/td>\n1<\/td>\n\u25ce<\/td>\nUnnecessary<\/td>\nHPS1156<\/td>\nHPS1157<\/td>\nHPS1158<\/td>\nHPS1159<\/td>\nHPS1160<\/td>\nHPS1161<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
2<\/td>\n\u25ce<\/td>\nUnnecessary<\/td>\nHPS3084<\/td>\nHPS3085<\/td>\nHPS3086<\/td>\nHPS3087<\/td>\nHPS3088<\/td>\nHPS3089<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
3<\/td>\n\u25ce<\/td>\nUnnecessary<\/td>\nHPS3090<\/td>\nHPS3091<\/td>\nHPS3092<\/td>\nHPS3093<\/td>\nHPS3094<\/td>\nHPS3095<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
Rett syndrome,Shank3 gene mutation (c.3100del)<\/td>\n1<\/td>\n\u25ce<\/td>\nUnnecessary<\/td>\nHPS3036<\/a><\/td>\nHPS3037<\/td>\nHPS3038<\/td>\nHPS3039<\/td>\nHPS3040<\/td>\nHPS3041<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
Rett syndrome, MECP2 gene mutation (S134C)<\/td>\n<\/a>1<\/td>\n\u25ce<\/td>\nUnnecessary<\/td>\nHPS3042<\/a><\/td>\nHPS3043<\/a><\/td>\nHPS3044<\/td>\nHPS3045<\/td>\nHPS3046<\/td>\nHPS3047<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
Rett syndrome, MECP2 gene mutation (R306H)<\/td>\n1<\/td>\n\u25ce<\/td>\nUnnecessary<\/td>\nHPS3048<\/a><\/td>\nHPS3049<\/a><\/td>\nHPS3050<\/td>\nHPS3051<\/td>\nHPS3052<\/td>\nHPS3053<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
58.Sturge-Weber syndrome<\/span><\/strong><\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
Sturge-Weber syndrome, unknown genetic etiology<\/a><\/td>\n1<\/td>\n\u25ce<\/td>\nUnnecessary<\/td>\nHPS1661<\/td>\nHPS1662<\/td>\nHPS1663<\/td>\nHPS1664<\/td>\nHPS1665<\/td>\nHPS1666<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
59.Tuberous sclerosis complex \uff08TSC)<\/span><\/strong><\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
Tuberous sclerosis complex \uff08TSC), unknown genetic etiology<\/a><\/td>\n1<\/td>\n\u25ce<\/td>\nUnnecessary<\/td>\nHPS2395<\/a> <\/td>\nHPS2396<\/a><\/td>\nHPS2397<\/a><\/td>\nHPS2398<\/td>\nHPS2399<\/td>\nHPS2400<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
60. Xeroderma pigmentosum<\/span><\/strong><\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
Xeroderma pigmentosum (A)<\/td>\n1<\/td>\n<\/td>\n<\/td>\nHPS1750*<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
Xeroderma pigmentosum (C)<\/a><\/td>\n1<\/td>\n<\/td>\nUnnecessary<\/td>\nHPS1000*<\/td>\nHPS1001*<\/td>\nHPS1002*<\/td>\nHPS1003*<\/td>\nHPS1004*<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
2<\/td>\n<\/td>\n<\/td>\nHPS1751*<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
Xeroderma pigmentosum, mutation in XPA <\/td>\n1<\/td>\n\u25ce<\/td>\nUnnecessary<\/td>\nHPS2000<\/a><\/td>\nHPS2001<\/a><\/td>\nHPS2002<\/a><\/td>\nHPS2003<\/td>\nHPS2004<\/td>\nHPS2005<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
Xeroderma pigmentosum<\/td>\n1<\/td>\n<\/td>\n<\/td>\nHPS3652<\/td>\nHPS3653<\/td>\nHPS3654<\/td>\nHPS3655<\/td>\nHPS3656<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
62.Angelman syndrome<\/span><\/strong><\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
Angelman syndrome, chromosome 15 partial deletion<\/td>\n1<\/td>\n\u25ce<\/td>\nUnnecessary<\/td>\nHPS1597<\/a> <\/td>\nHPS1598<\/td>\nHPS1599<\/td>\nHPS1600<\/td>\nHPS1601<\/td>\nHPS1602<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
Angelman syndrome, deletion of 15q11.2-15q11.3<\/td>\n1<\/td>\n\u25ce<\/td>\nUnnecessary<\/td>\nHPS2084<\/a><\/td>\nHPS2085<\/td>\nHPS2086<\/td>\nHPS2087<\/td>\nHPS2088<\/td>\nHPS2089<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
Angelman syndrome<\/td>\n1<\/td>\n<\/td>\nUnnecessary<\/td>\nHPS1734<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
2<\/td>\n<\/td>\nUnnecessary<\/td>\nHPS1735<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
3<\/td>\n<\/td>\nUnnecessary<\/td>\nHPS1736<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
4<\/td>\n<\/td>\nUnnecessary<\/td>\nHPS1782<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
5<\/td>\n<\/td>\nUnnecessary<\/td>\nHPS1783<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
6<\/td>\n<\/td>\nUnnecessary<\/td>\nHPS1784<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
<\/a>7<\/td>\n<\/td>\nUnnecessary<\/td>\nHPS1786<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
Angelman syndrome, unknown genetic etiology<\/td>\n1<\/td>\n\u25ce<\/td>\nUnnecessary<\/td>\nHPS2798<\/a><\/td>\nHPS2799<\/td>\nHPS2800<\/td>\nHPS2801<\/td>\nHPS2802<\/td>\nHPS2803<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
Angelman syndrome, Epilepsy<\/td>\n1<\/td>\n<\/td>\n<\/td>\nHPS3660<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\nPMID: 30605843<\/a><\/td>\n<\/tr>\n
62. Glycosylphosphatidylinositol(GPI) anchor deficiency<\/span><\/strong><\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
Glycosylphosphatidylinositol(GPI) anchor deficiency<\/td>\n1<\/td>\n\u25ce<\/td>\nUnnecessary<\/td>\nHPS3102<\/td>\nHPS3103<\/td>\nHPS3104<\/td>\nHPS3105<\/td>\nHPS3106<\/td>\nHPS3107<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
2<\/a><\/td>\n\u25ce<\/td>\nUnnecessary<\/td>\nHPS3108<\/td>\nHPS3109<\/td>\nHPS3110<\/td>\nHPS3111<\/td>\nHPS3112<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n
Glycosylphosphatidylinositol(GPI) anchor deficiency<\/td>\n1<\/td>\n\u25ce<\/td>\nUnnecessary<\/td>\nHPS2989<\/td>\nHPS2990<\/td>\nHPS2991<\/td>\nHPS2992<\/td>\nHPS2993<\/td>\nHPS2994<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n","protected":false},"excerpt":{"rendered":"

\uff0a When you want to use some Disease-specific iPS cells, please e-mail to the following address. \uff0a In relation to the information that are not described below, please e-mail to the following address. Contact us :\u00a0cellips.brcriken.jp Blue letter cells are available. You obtain the information by clicking the blue letter. *iPS cells created using the Sendai virus vector are now available *Terms: In relation to all iPS cell lines, approval of institutional review board and\/or institutional ethical committee regarding the research using iPS cells is necessary. In relation to all iPS cell lines, commercial use is prohibited. In relation to the cell lines marked with \u25ce, (1) the recipient does not need to obtain an approval from the depositor, (2) there is no need of collaboration with the depositor, and (3) for-profit entities can also utilize. Update : 2020.11.27 Name of diseases Patient No. *Terms Approval Form HPS References Neuromuscular diseases 1. Spinal-Bulbar Muscular Atrophy (SBMA) Spinal-Bulbar Muscular Atrophy (SBMA) 1 \u25ce<\/p>\n","protected":false},"author":15,"featured_media":0,"parent":10124,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"","meta":{"_seopress_titles_title":"","_seopress_titles_desc":"","_seopress_robots_index":"","_seopress_robots_follow":"","_seopress_robots_imageindex":"","_seopress_robots_snippet":"","_seopress_robots_primary_cat":"","_seopress_robots_breadcrumbs":"","_seopress_robots_freeze_modified_date":"","_seopress_robots_custom_modified_date":"","_seopress_robots_canonical":"","_seopress_social_fb_title":"","_seopress_social_fb_desc":"","_seopress_social_fb_img":"","_seopress_social_fb_img_attachment_id":0,"_seopress_social_fb_img_width":0,"_seopress_social_fb_img_height":0,"_seopress_social_twitter_title":"","_seopress_social_twitter_desc":"","_seopress_social_twitter_img":"","_seopress_social_twitter_img_attachment_id":0,"_seopress_social_twitter_img_width":0,"_seopress_social_twitter_img_height":0,"_seopress_redirections_value":"","_seopress_redirections_enabled":"","_seopress_redirections_enabled_regex":"","_seopress_redirections_logged_status":"both","_seopress_redirections_param":"","_seopress_redirections_type":301,"_seopress_analysis_target_kw":"","footnotes":"","_wp_rev_ctl_limit":""},"class_list":["post-10127","page","type-page","status-publish","hentry"],"_links":{"self":[{"href":"http:\/\/cell.brc.riken.jp\/en\/wp-json\/wp\/v2\/pages\/10127","targetHints":{"allow":["GET"]}}],"collection":[{"href":"http:\/\/cell.brc.riken.jp\/en\/wp-json\/wp\/v2\/pages"}],"about":[{"href":"http:\/\/cell.brc.riken.jp\/en\/wp-json\/wp\/v2\/types\/page"}],"author":[{"embeddable":true,"href":"http:\/\/cell.brc.riken.jp\/en\/wp-json\/wp\/v2\/users\/15"}],"replies":[{"embeddable":true,"href":"http:\/\/cell.brc.riken.jp\/en\/wp-json\/wp\/v2\/comments?post=10127"}],"version-history":[{"count":9,"href":"http:\/\/cell.brc.riken.jp\/en\/wp-json\/wp\/v2\/pages\/10127\/revisions"}],"predecessor-version":[{"id":10803,"href":"http:\/\/cell.brc.riken.jp\/en\/wp-json\/wp\/v2\/pages\/10127\/revisions\/10803"}],"up":[{"embeddable":true,"href":"http:\/\/cell.brc.riken.jp\/en\/wp-json\/wp\/v2\/pages\/10124"}],"wp:attachment":[{"href":"http:\/\/cell.brc.riken.jp\/en\/wp-json\/wp\/v2\/media?parent=10127"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}