Neuromuscular disease

(Last Update:2021.5.18)

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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 Unnecessary HPS0479 HPS0480 HPS0481 PMID: 23193063
24399248
2 Unnecessary HPS0482 HPS0483 HPS0484 PMID: 23193063
24399248
3 Unnecessary HPS0654 HPS0655 HPS0656 HPS0657 HPS0658 HPS0659
2. Amyotrophic lateral sclerosis (ALS)
Amyotrophic lateral sclerosis (ALS) 1 HPS0059
2 HPS0247
3 HPS0248
4 HPS0249 HPS1721 HPS1722
5 HPS0250
6 HPS0251 HPS1719
7 HPS0252 HPS1720
8 HPS0253
9 HPS0419 HPS0420 HPS0421
10 Unnecessary HPS0473 HPS0474 HPS0475 PMID: 23193063
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11 Unnecessary HPS0476 HPS0477 HPS0478 PMID: 23193063
24399248
12 Unnecessary HPS0485 HPS0486 HPS0487 PMID: 23193063
24399248
13 Unnecessary HPS0558 HPS0559 HPS0560 HPS0561 HPS0562 HPS0563
14 Unnecessary HPS0564 HPS0565 HPS0566 HPS0567 HPS0568 HPS0569
15 Unnecessary HPS0576 HPS0577 HPS0578 HPS0579 HPS0580 HPS0581
16 Unnecessary HPS0612 HPS0613 HPS0614 HPS0615 HPS0616 HPS0617
17 Unnecessary HPS0618 HPS0619 HPS0620 HPS0621 HPS0622 HPS0623
18 Unnecessary HPS0624 HPS0625 HPS0626 HPS0627 HPS0628 HPS0629
19 Unnecessary HPS0630 HPS0631 HPS0632 HPS0633 HPS0634 HPS0635
20 Unnecessary HPS0636 HPS0637 HPS0638 HPS0639 HPS0640 HPS0641
21 Unnecessary HPS0642 HPS0643 HPS0644 HPS0645 HPS0646 HPS0647
22 Unnecessary HPS0648 HPS0649 HPS0650 HPS0651 HPS0652 HPS0653
23 Unnecessary HPS0724 HPS0725 HPS0726 HPS0727 HPS0728 HPS0729
24 Unnecessary HPS0730 HPS0731 HPS0732 HPS0733 HPS0734 HPS0735
25 Unnecessary HPS0736 HPS0737 HPS0738 HPS0739 HPS0740 HPS0741
26 Unnecessary HPS0742 HPS0743 HPS0744 HPS0745 HPS0746 HPS0747
27 Unnecessary HPS0748 HPS0749 HPS0750 HPS0751 HPS0752 HPS0753
28 Unnecessary HPS0754 HPS0755 HPS0756 HPS0757 HPS0758 HPS0759
29 Unnecessary HPS0760 HPS0761 HPS0762 HPS0763 HPS0764 HPS0765
30 Unnecessary HPS0766 HPS0767 HPS0768 HPS0769 HPS0770 HPS0771
31 Unnecessary HPS0782 HPS0783 HPS0784 HPS0785 HPS0786 HPS0787
32 Unnecessary HPS0788 HPS0789 HPS0790 HPS0791 HPS0792 HPS0793
33 Unnecessary HPS0794 HPS0795 HPS0796 HPS0797 HPS0798 HPS0799
34 Unnecessary HPS0824 HPS0825 HPS0826 HPS0827 HPS0828 HPS0829
35 Unnecessary HPS0860 HPS0861 HPS0862 HPS0863 HPS0864 HPS0865
36 Unnecessary HPS0890 HPS0891 HPS0892 HPS0893 HPS0894 HPS0895
37 Unnecessary HPS0896 HPS0897 HPS0898 HPS0899 HPS0900 HPS0901
38 Unnecessary HPS0902 HPS0903 HPS0904 HPS0905 HPS0906 HPS0907
39 Unnecessary HPS0908 HPS0909 HPS0910 HPS0911 HPS0912 HPS0913
40 Unnecessary HPS0914 HPS0915 HPS0916 HPS0917 HPS0918 HPS0919
41 Unnecessary HPS0920 HPS0921 HPS0922 HPS0923 HPS0924 HPS0925
42 Unnecessary HPS0926 HPS0927 HPS0928 HPS0929 HPS0930 HPS0931
43 HPS1055
44 HPS1056
45 HPS1723 HPS1724
46 HPS1818
47 HPS1819 HPS1820
48 HPS1821
49 HPS1822 HPS1823
50 HPS1824 HPS1825
51 HPS1826 HPS1827
52 HPS1828 HPS1829
53 HPS1830
54 HPS1831 HPS1832 HPS1833 HPS1834
55 HPS1835
56 HPS1891
57 HPS3818
58 HPS3821 HPS3822 HPS3823
59 HPS3824
60 HPS3825
Amyotrophic lateral sclerosis (ALS), TDP-43 mutations 1 HPS0290 HPS0291 HPS0327 PMID: 22855461
2 HPS0292 HPS0293 HPS0294 HPS1717 PMID: 22855461
28539470
Amyotrophic lateral sclerosis (ALS), familia amyotrophic lateral sclerosis (FALS) 1 HPS0140* HPS0141* HPS0142*
Amyotrophic lateral sclerosis (ALS), bulbar, with UMN 1 HPS0146* HPS0147* HPS0148*
Amyotrophic lateral sclerosis (ALS), classical, with UMN 1 HPS0129* HPS0130*
Amyotrophic lateral sclerosis (ALS), pseudo-polyneuritic, w/o UMN 1 HPS0134* HPS0136*
Amyotrophic lateral sclerosis (ALS) / Parkinsonism-dementia 1 Unnecessary HPS0878 HPS0879 HPS0880 HPS0881 HPS0882 HPS0883
Muro disease (Kii ALS/PDC) 1 Unnecessary HPS1742
2 Unnecessary HPS1780
3 Unnecessary HPS1781
3. Spinal muscular atrophy
Spinal muscular atrophy, SMA Type I 1 HPS0158 HPS0159 PMID: 25801509
Spinal muscular atrophy, SMA Type II 1 HPS1391 HPS1392 HPS1393 HPS1394 HPS1395 HPS1396
Spinal muscular atrophy 1 Unnecessary HPS0932 HPS0933 HPS0934 HPS0935 HPS0936 HPS0937
2 HPS3871 HPS3872
4. Primary lateral sclerosis (PLS)
Primary lateral sclerosis (PLS) 1 HPS0414 HPS0415
2 HPS0417 HPS0418
Primary lateral sclerosis (PLS), unknown genetic etiology 1 Unnecessary HPS2906 HPS2907 HPS2908 HPS2909 HPS2910 HPS2911
5. Progressive supranuclea palsy (PSP)
Progressive supranuclea palsy (PSP) 1 Unnecessary HPS2714 HPS2715 HPS2716 HPS2717 HPS2718 HPS2719
6. Parkinson’s disease (PD)
Parkinson’s disease (PD) 1 HPS0264
2 HPS0800 HPS0801 HPS0802 HPS0803 HPS0804 HPS0805
3 Unnecessary HPS0491 HPS0492 HPS0493 PMID: 23193063
24399248
4 HPS0510
Unnecessary HPS0842 HPS0843 HPS0844 HPS0845 HPS0846 HPS0847
5 Unnecessary HPS0830 HPS0831 HPS0832 HPS0833 HPS0834 HPS0835
6 Unnecessary HPS0848 HPS0849 HPS0850 HPS0851 HPS0852 HPS0853
Parkinson’s disease (PD), Familial type, PARK2 1 HPS0097 HPS0098 HPS0099 PMID: 23039195
2 HPS0304 HPS0305 PMID: 23039195
7. Corticobasal degeneration (CBD)
Corticobasal degeneration (CBD) 1 Unnecessary HPS2401 HPS2402 HPS2403 HPS2404 HPS2405 HPS2406
8. Huntington’s disease
Huntington’s disease 1 HPS0263
Huntington’s disease, mutation in IT15 2 Unnecessary HPS2377 HPS2378 HPS2379 HPS2380 HPS2381 HPS2382
9. Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease 1 HPS0426 HPS0427 HPS0428
2 HPS0429 HPS0430 HPS0431
3 HPS0433 HPS0434
4 HPS0507
5 HPS0508
6 Unnecessary HPS0552 HPS0553 HPS0554 HPS0555 HPS0556 HPS0557 HPS1047
7 HPS1048
8 HPS1049 HPS1718
9 HPS1050
10 HPS1814
11 HPS1815
10. Myasthenia Gravis (MG)
Myasthenia Gravis (MG), s,positiveibranUAChRantibody 1 Unnecessary HPS2220 HPS2221 HPS2222 HPS2223 HPS2224 HPS2225
11. Congenital myasthenic syndrome
Congenital myasthenic syndrome 1 Unnecessary HPS0983 HPS0984 HPS0985 HPS0986 HPS0987 HPS0988 HPS0989 HPS0990
2 Unnecessary HPS1066 HPS1067 HPS1068 HPS1069 HPS1070
3 Unnecessary HPS1845 HPS1846
4 Unnecessary HPS1850
5 Unnecessary HPS1851 HPS1852
6 Unnecessary HPS1855 HPS3523 HPS3524
Congenital myasthenic syndrome mutation in GFPT1 1 Unnecessary HPS2894 HPS2895 HPS2896 HPS2897 HPS2898 HPS2899
12. Multiple sclerosis (MS) / Neuromyelitis Optica Spectrum Disorders (NMOSD)
Multiple sclerosis (MS) / Neuromyelitis Optica Spectrum Disorders (NMOSD), Neuromyelitis Optica 1 Unnecessary HPS2912 HPS2913 HPS2914 HPS2915 HPS2916 HPS2917
Multiple sclerosis (MS) / Neuromyelitis Optica, relapsing-remitting MS 1 Unnecessary HPS1454 HPS1455 HPS1456 HPS1457 HPS1458 HPS1459
2 Unnecessary HPS3137 HPS3138 HPS3139 HPS3140 HPS3141 HPS3142
Multiple sclerosis (MS) / Neuromyelitis Optica, secondary progressive multiple sclerosis 1 Unnecessary HPS1526 HPS1527 HPS1528 HPS1529 HPS1530 HPS1531
13. Chronic inflammatory demyelinating polyneuropathy (CIDP) / multifocal motor neuropathy (MMN)
Chronic inflammatory demyelinating polyneuropathy (CIDP) / multifocal motor neuropathy (MMN), mortor dominant 1 Unnecessary HPS1544 HPS1545 HPS1546 HPS1547 HPS1548 HPS1549
Chronic inflammatory demyelinating polyneuropathy (CIDP) 1 Unnecessary HPS2174 HPS2175 HPS2176 HPS2177 HPS2178 HPS2179
14. Inclusion body myositis
Inclusion body myositis 1 HPS0183*
2 HPS0351 HPS0352 HPS0353
3 HPS3987 NEW HPS3988 NEW HPS3989 NEW HPS3990 NEW HPS3991 NEW HPS3992 NEW
15. Crow‐Fukase syndrome
Crow‐Fukase syndrome 1 Unnecessary HPS1621 HPS1622 HPS1623 HPS1624 HPS1625 HPS1626
Crow‐Fukase syndrome, possible CFS 2 Unnecessary HPS2347 HPS2348 HPS2349 HPS2350 HPS2351 HPS2352
16. Multiple system atrophy (MSA)
Multiple system atrophy (MSA) 1 Unnecessary HPS0772 HPS0773 HPS0774 HPS0775
2 Unnecessary HPS0818 HPS0819 HPS0820 HPS0821 HPS0822 HPS0823
3 Unnecessary HPS1737
4 Unnecessary HPS1738
5 Unnecessary HPS1739
6 Unnecessary HPS2214 HPS2215 HPS2216 HPS2217 HPS2218 HPS2219
17. Spinocerebellar Degeneration
Spinocerebellar Degeneration 1 HPS0422 HPS0424 PMID: 28918022
2 HPS0425
3 Unnecessary HPS0464 HPS0465 HPS0466 PMID: 23193063
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4 Unnecessary HPS0467 HPS0468 HPS0469 PMID: 23193063
24399248
5 Unnecessary HPS0570 HPS0571 HPS0572 HPS0573 HPS0574 HPS0575
6 Unnecessary HPS0582 HPS0583 HPS0584 HPS0585 HPS0586 HPS0587
7 Unnecessary HPS0588 HPS0589 HPS0590 HPS0591 HPS0592 HPS0593
8 Unnecessary HPS0594 HPS0595 HPS0596 HPS0597 HPS0598 HPS0599
9 Unnecessary HPS0600 HPS0601 HPS0602 HPS0603 HPS0604 HPS0605
10 Unnecessary HPS0606 HPS0607 HPS0608 HPS0609 HPS0610 HPS0611
11 Unnecessary HPS0776 HPS0777 HPS0778 HPS0779 HPS0780 HPS0781
12 Unnecessary HPS0806 HPS0807 HPS0808 HPS0809 HPS0810 HPS0811
13 Unnecessary HPS0836 HPS0837 HPS0838 HPS0839 HPS0840 HPS0841
14 Unnecessary HPS0866 HPS0867 HPS0868 HPS0869 HPS0870 HPS0871
HPS1034 PMID: 28918022
15 Unnecessary HPS0872 HPS0873 HPS0874 HPS0875 HPS0876 HPS0877
HPS1035
16 HPS1725
17 HPS1726 HPS1727
Spinocerebellar Degeneration, sporadic 1 Unnecessary HPS2226 HPS2227 HPS2228 HPS2229 HPS2230 HPS2231
Spinocerebellar ataxia type 1 1 Unnecessary HPS1740
2 Unnecessary HPS1741
Spinocerebellar Degeneration 1 HPS1898 HPS1899
Spinocerebellar Degeneration 1 HPS1074 HPS1772
2 HPS1773
3 HPS1774 HPS1775
4 HPS1890
5 HPS1892 HPS1893
6 HPS1894 HPS1895
7 HPS1896 HPS1897
Spinocerebellar Degeneration 1 HPS1887
2 HPS1888 HPS1889
18. Moyamoya disease
Moyamoya disease 1 HPS0215* HPS0216* HPS0217*
2 Unnecessary HPS2066 HPS2067 HPS2068 HPS2069 HPS2070 HPS2071
3 Unnecessary HPS3012 HPS3013 HPS3014 HPS3015 HPS3016 HPS3017
Moyamoya disease, bilateral type 1 Unnecessary HPS1667 HPS1668 HPS1669 HPS1670 HPS1671 HPS1672
19. Subacute sclerosing panencephalitis (SSPE)
Subacute sclerosing panencephalitis (SSPE) 1 Unnecessary HPS1638 HPS1639 HPS1640 HPS1641 HPS1642 HPS1643
2 Unnecessary HPS2430 HPS2431 HPS2432 HPS2433 HPS2434 HPS2435
20. Progressive multifocal leukoencephalopathy (PML)
Progressive multifocal leukoencephalopathy (PML) 1 Unnecessary HPS2280 HPS2281 HPS2282 HPS2283 HPS2284
21. Fahr disease
Fahr disease 1 HPS1036 HPS1705
2 HPS1037 HPS1708 HPS1709
3 HPS1038 HPS1710 HPS1711
4 HPS1053
5 HPS1054 HPS3842 HPS3843
6 HPS1706 HPS1707
7 HPS3844 HPS3845/td>

HPS3846
22. Ullrich congenital muscular dystrophy
Ullrich congenital muscular dystrophy 1 Unnecessary HPS1849
Ullrich congenital muscular dystrophy 1 HPS3862 HPS3863 HPS3864
23. Distal Myopathy
Distal Myopathy 1 Unnecessary HPS2971 HPS2972 HPS2973 HPS2974 HPS2975 HPS2976
Distal Myopathy, DMRV / GNE myopathy 1 Unnecessary HPS1436 HPS1437 HPS1438 HPS1439 HPS1440 HPS1441
2 Unnecessary HPS2126 HPS2127 HPS2128 HPS2129 HPS2130 HPS2131
Miyoshi myopathy 1 HPS0390 HPS0391 HPS0392
2 HPS0397 HPS0398 HPS0399
3 HPS0408 HPS0409 HPS0410
4 HPS1029 HPS1030 HPS1031
Miyoshi myopathy 1 HPS0961 HPS0962 HPS0963 HPS0964 HPS0965 HPS0966
2 HPS0973* HPS0974* HPS0975* HPS097* HPS0977* HPS0978*
24. Bethlem myopathy
Bethlem myopathy 1 HPS1017 HPS1018 HPS1019
2 Unnecessary HPS1847 HPS1848
3 Unnecessary HPS3209 HPS3210 HPS3211 HPS3212 HPS3213 HPS3214
25. Danon disease
Danon disease 1 HPS1805
2 HPS3664
26. Schwartz-Jampel syndrome (SJS)
Schwartz-Jampel syndrome (SJS) 1 HPS1023 HPS1024 HPS1025
27. Congenital myopathy
Congenital fiber type disproportion disease 1 HPS0143* HPS0144* HPS0145*
Myotubular myopathy 1 HPS1020 HPS1021 HPS1022
2 HPS3865 HPS3866 HPS3867
Congenital myopathy, mutation in MTM11 1 Unnecessary HPS2882 HPS2883 HPS2884 HPS2885 HPS2886 HPS2887
28. Muscular dystrophy
Muscular dystrophy, Duchenne type 1 HPS0164*
2 HPS0169* HPS0171*
3 HPS0312 HPS0313 HPS0314 HPS0315 HPS0316
4 HPS1026 HPS1027 HPS1028
5 HPS3944
6 HPS3945 HPS3946 HPS3947
7 HPS3959 HPS3960
Muscular dystrophy, Duchenne type, deletion of exon 44, dystrophin gene 1 HPS0383  PMID: 25434822 PMID: 30171543 PMID: 33798449
Correction of the dystrophin gene HPS0384 HPS0385 HPS0386 HPS0387  PMID: 25434822 PMID: 33798449
Muscular dystrophy, Duchenne type (manifesting carrier) 1 HPS0317 HPS0318 HPS0319 HPS0320 HPS0321 HPS0322* HPS0323* HPS0324* HPS0325*
Muscular dystrophy, Becker type 1 HPS0233* HPS0234*
Muscular dystrophy, Limb-girdle type 1 HPS0200*
Muscular dystrophy, Miyoshi type 1 HPS0133*
Muscular dystrophy, Myotonic Dystrophy 1 HPS0540 HPS0541 HPS0542
2 HPS1032
3 HPS1033
4 HPS1051 HPS1703 HPS1704
5 HPS1052
Muscular dystrophy, Myotonic Dystrophy, type 1 1 HPS0393 HPS0394
2 HPS0395 HPS0396
Muscular channelopathy 1 HPS0967 HPS0968 HPS0969 HPS0970 HPS0971 HPS0972
2 HPS0979 HPS0980 HPS0981
3 HPS0991 HPS0992 HPS0993 HPS0994 HPS0995 HPS0996 HPS0997
4 HPS1058 HPS1059 HPS1060 HPS1061
Muscular dystrophy, duplication of exons 3-7 of DMD gene 1 Unnecessary HPS1367 HPS1368 HPS1369 HPS1370 HPS1371 HPS1372
Muscular dystrophy, deletion of exons 47-52 of DMD gene 1 Unnecessary HPS1337 HPS1338 HPS1339 HPS1340 HPS1341 HPS1342
2 Unnecessary HPS1349 HPS1350 HPS1351 HPS1352 HPS1353 HPS1354
Muscular dystrophy, deletion of exons 49-50 of DMD gene 1 Unnecessary HPS1343 HPS1344 HPS1345 HPS1346 HPS1347 HPS1348
Muscular dystrophy, deletion of exons 49-52 of DMD gene 1 Unnecessary HPS1355 HPS1356 HPS1357 HPS1358 HPS1359 HPS1360
Muscular dystrophy, congenital, Merosin-deficient 1A 1 HPS3859 HPS3860 HPS3861
Facio-scapulo-humeral muscular dystrophy, type2 1 HPS3941 HPS3942 HPS3943
2 HPS3962 HPS3963 HPS3964
29. Periodic paralysis
Periodic paralysis 1 Unnecessary HPS1062 HPS1063 HPS1064 HPS1065
30. Syringomyelia/span>
Syringomyelia 1 Unnecessary HPS2285 HPS2286 HPS2287 HPS2288 HPS2289
31. Isaacs syndrome
Isaacs syndrome 1 Unnecessary HPS2238 HPS2239 HPS2240 HPS2241 HPS2242 HPS2243
32. Hereditary dystonia
Hereditary dystonia
遺伝性ジストニア
1 HPS1039 HPS1712
2 HPS1040 HPS1713 HPS1714
3 HPS1816 HPS1817
4 Unnecessary HPS1942 HPS1943 HPS1944 HPS1945 HPS1946 HPS1947
33. Neuroferritinopathy
Neuroferritinopathy 1 Unnecessary HPS1785
34. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL)
CADASIL(cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy) 1 HPS3847
2 HPS3848
3 HPS3849
4 HPS3850
5 HPS3851
6 HPS3852
7 HPS3853
35. Perry syndrome
Perry syndrome 1 HPS1041
Unnecessary HPS1715 HPS1716
36. Frontotemporal lobar degeneration (FTLD)
Frontotemporal lobar degeneration (FTLD),Semantic Dementia 1 Unnecessary HPS1568 HPS1569 HPS1570 HPS1571 HPS1572
2 Unnecessary HPS1906 HPS1907 HPS1908 HPS1909 HPS1910 HPS1911
Frontotemporal dementia (FTD) 1 Unnecessary HPS0470 HPS0471 HPS0472 PMID: 23193063
24399248
37. Acute encephalopathy with biphasic seizures and late reduced diffusion (AESD)
Acute encephalopathy with biphasic seizures and late reduced diffusion (AESD) 1 Unnecessary HPS1924 HPS1925 HPS1926 HPS1927 HPS1928 HPS1929
38. Congenital insensitivity to pain with anhidrosis
Congenital insensitivity to pain with anhidrosis 1 Unnecessary HPS1076 HPS1077
Congenital insensitivity to pain with anhidrosis (CIPA), unknown genetic etiology 1 Unnecessary HPS2012 HPS2013 HPS2014 HPS2015 HPS2016 HPS2017
39. Alexander disease
Alexander disease type 2(GFAP mutation) 1 Unnecessary HPS1442 HPS1443 HPS1444 HPS1445 HPS1446 HPS1447
Alexander disease, type 2 1 Unnecessary HPS2341 HPS2342 HPS2343 HPS2344 HPS2345 HPS2346
Alexander disease, type 3 1 Unnecessary HPS2792 HPS2793 HPS2794 HPS2795 HPS2796 HPS2797
Alexander disease 1 Unnecessary HPS2786 HPS2787 HPS2788 HPS2789 HPS2790 HPS2791
2 HPS3529
40. Aicardi syndrome
Aicardi syndrome 1 Unnecessary HPS2780 HPS2781 HPS2782 HPS2783 HPS2784 HPS2785
41. Hemimegalencephaly
Hemimegalencephaly 1 Unnecessary HPS2720 HPS2721 HPS2722 HPS2723 HPS2724 HPS2725
42. Focal cortical dysplasia (FCD)
Focal cortical dysplasia (FCD) 1 Unnecessary HPS1591 HPS1592 HPS1593 HPS1594 HPS1595 HPS1596
Focal cortical dysplasia (FCD), type 2a 1 Unnecessary HPS2442 HPS2443 HPS2444 HPS2445 HPS2446 HPS2447
43.Neuronal migration disorder
Neuronal migration disorder 1 Unnecessary HPS1615 HPS1616 HPS1617 HPS1618 HPS1619 HPS1620
Neuronal migration disorder, polymicrogyria / unknown genetic etiology 1 Unnecessary HPS2156 HPS2157 HPS2158 HPS2159 HPS2160 HPS2161
Neuronal migration disorder, mutation in PIK3R2 1 Unnecessary HPS2936 HPS2937 HPS2938 HPS2939 HPS2940 HPS2941
44. Dravet syndrom
Dravet syndrome, heterozygous mutation of SCN1A 1 Unnecessary HPS1460 HPS1461 HPS1462 HPS1463 HPS1464 HPS1465
Dravet syndrome, mutation of SCN1A 1 Unnecessary HPS2096 HPS2097 HPS2098 HPS2099 HPS2100 HPS2101
2 Unnecessary HPS2834 HPS2835 HPS2836 HPS2837 HPS2838 HPS2839
45. Mesial temporal lobe epilepsy with hippocampal sclerosis
Mesial temporal lobe epilepsy with hippocampal sclerosis 1 Unnecessary HPS1609 HPS1610 HPS1611 HPS1612 HPS1613 HPS1614
2 Unnecessary HPS2436 HPS2437 HPS2438 HPS2439 HPS2440 HPS2441
46. Epilepsy with myoclonic absence (EMA)
Epilepsy with myoclonic absence (EMA) 1 Unnecessary HPS1514 HPS1515 HPS1516 HPS1517 HPS1518 HPS1519
2 Unnecessary HPS2319 HPS2320 HPS2321 HPS2322 HPS2323 HPS2324
47. Epilepsy with myoclonic-astatic seizures
Epilepsy with myoclonic-astatic seizures 1 Unnecessary HPS1930 HPS1931 HPS1932 HPS1933 HPS1934 HPS1935
48. Lennox-Gastaut syndrome (LGS)
Lennox-Gastaut syndrome (LGS) 1 Unnecessary HPS1603 HPS1604 HPS1605 HPS1606 HPS1607 HPS1608
Lennox-Gastaut syndrome (LGS), inverted duplication of chromosome 15 1 Unnecessary HPS2120 HPS2121 HPS2122 HPS2123 HPS2124 HPS2125
49. West syndrome
West syndrome 1 Unnecessary HPS3224 HPS3225 HPS3226 HPS3227 HPS3228 HPS3229
50. Ohtahara syndrome
Ohtahara syndrome, mutation of STXBP1 1 Unnecessary HPS3179 HPS3180 HPS3181 HPS3182 HPS3183 HPS3184
51. Hemiconvulsion-hemiplegia-epilepsy syndrome
Hemiconvulsion-hemiplegia-epilepsy syndrome, unknown genetic etiology 1 Unnecessary HPS2048 HPS2049 HPS2050 HPS2051 HPS2052 HPS2053
2 Unnecessary HPS2460 HPS2461 HPS2462 HPS2463 HPS2464 HPS2465
52.Ring chromosome 20 syndrome
Ring chromosome 20 syndrome 1 Unnecessary HPS1421 HPS1422 HPS1423 HPS1424 HPS1425 HPS1426
2 Unnecessary HPS2138 HPS2139 HPS2140 HPS2141 HPS2142 HPS2143
53.Rasmussen encephalitis
Rasmussen encephalitis 1 Unnecessary HPS1585 HPS1586 HPS1587 HPS1588 HPS1589 HPS1590
Rasmussen encephalitis, Part A 1 Unnecessary HPS2180 HPS2181 HPS2182 HPS2183 HPS2184 HPS2185
54. PCDH19 epilepsy
PCDH19 epilepsy, PCDH19 mutation 1 Unnecessary HPS1655 HPS1656 HPS1657 HPS1658 HPS1659 HPS1660
2 Unnecessary HPS2313 HPS2314 HPS2315 HPS2316 HPS2317 HPS2318
55. Epilepsy with continuous spikes and waves during slow sleep
Epilepsy with continuous spikes and waves during slow sleep, unknown genetic etiology 1 Unnecessary HPS1644 HPS1645 HPS1646 HPS1647 HPS1648 HPS1649
2 Unnecessary HPS2331 HPS2332 HPS2333 HPS2334 HPS2335 HPS2336
3 Unnecessary HPS3326 HPS3327 HPS3328 HPS3329 HPS3330 HPS3331
56.Landau―Kleffner syndrome
Landau―Kleffner syndrome, unknown genetic etiology 1 Unnecessary HPS2732 HPS2733 HPS2734 HPS2735 HPS2736 HPS2737
57. Rett syndrome
Rett syndrome 1 Unnecessary HPS1156 HPS1157 HPS1158 HPS1159 HPS1160 HPS1161
2 Unnecessary HPS3084 HPS3085 HPS3086 HPS3087 HPS3088 HPS3089
3 Unnecessary HPS3090 HPS3091 HPS3092 HPS3093 HPS3094 HPS3095
Rett syndrome,Shank3 gene mutation (c.3100del) 1 Unnecessary HPS3036 HPS3037 HPS3038 HPS3039 HPS3040 HPS3041
Rett syndrome, MECP2 gene mutation (S134C) 1 Unnecessary HPS3042 HPS3043 HPS3044 HPS3045 HPS3046 HPS3047
Rett syndrome, MECP2 gene mutation (R306H) 1 Unnecessary HPS3048 HPS3049 HPS3050 HPS3051 HPS3052 HPS3053
58.Sturge-Weber syndrome
Sturge-Weber syndrome, unknown genetic etiology 1 Unnecessary HPS1661 HPS1662 HPS1663 HPS1664 HPS1665 HPS1666
59.Tuberous sclerosis complex (TSC)
Tuberous sclerosis complex (TSC), unknown genetic etiology 1 Unnecessary HPS2395 HPS2396 HPS2397 HPS2398 HPS2399 HPS2400
60. Xeroderma pigmentosum
Xeroderma pigmentosum (A) 1 HPS1750*
Xeroderma pigmentosum (C) 1 Unnecessary HPS1000* HPS1001* HPS1002* HPS1003* HPS1004*
2 HPS1751*
Xeroderma pigmentosum, mutation in XPA 1 Unnecessary HPS2000 HPS2001 HPS2002 HPS2003 HPS2004 HPS2005
Xeroderma pigmentosum 1 HPS3652 HPS3653 HPS3654 HPS3655 HPS3656
62.Angelman syndrome
Angelman syndrome, chromosome 15 partial deletion 1 Unnecessary HPS1597 HPS1598 HPS1599 HPS1600 HPS1601 HPS1602
Angelman syndrome, deletion of 15q11.2-15q11.3 1 Unnecessary HPS2084 HPS2085 HPS2086 HPS2087 HPS2088 HPS2089
Angelman syndrome 1 Unnecessary HPS1734
2 Unnecessary HPS1735
3 Unnecessary HPS1736
4 Unnecessary HPS1782
5 Unnecessary HPS1783
6 Unnecessary HPS1784
7 Unnecessary HPS1786
Angelman syndrome, unknown genetic etiology 1 Unnecessary HPS2798 HPS2799 HPS2800 HPS2801 HPS2802 HPS2803
Angelman syndrome, Epilepsy 1 HPS3660 PMID: 30605843
62. Glycosylphosphatidylinositol(GPI) anchor deficiency
Glycosylphosphatidylinositol(GPI) anchor deficiency 1 Unnecessary HPS3102 HPS3103 HPS3104 HPS3105 HPS3106 HPS3107
2 Unnecessary HPS3108 HPS3109 HPS3110 HPS3111 HPS3112
Glycosylphosphatidylinositol(GPI) anchor deficiency 1 Unnecessary HPS2989 HPS2990 HPS2991 HPS2992 HPS2993 HPS2994


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