Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | DiseaseId | DiseaseName | DiseaseMIM | ConceptID | Source | Typical association | HGMD variants | ClinVar variants | HGNC ID | GeneMIM |
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HPO disease - gene - phenotype typical associations: |
HP:0001336 | HP:0001336 | Myoclonus | 0 | ABCA7 CL E G H | 10347 | 1020 | | | | ORPHA | 1 | | 269 | 37 | 605414 |
HP:0001336 | HP:0001336 | Myoclonus | 0 | ADCY5 CL E G H | 111 | 324588 | | | | ORPHA | 1 | | 653 | 236 | 600293 |
HP:0001336 | HP:0001336 | Myoclonus | 0 | ADRA2B CL E G H | 151 | 86814 | | | | ORPHA | 1 | | 92 | 282 | 104260 |
HP:0001336 | HP:0001336 | Myoclonus | 0 | ADRA2B CL E G H | 151 | 607876 | Epilepsy, familial adult myoclonic 2 | 607876 | C1842852 | OMIM | 1 | | 92 | 282 | 104260 |
HP:0001336 | HP:0001336 | Myoclonus | 0 | ADSL CL E G H | 158 | 103050 | Adenylosuccinate lyase deficiency | 103050 | C0268126 | OMIM | 1 | | 808 | 291 | 608222 |
HP:0001336 | HP:0001336 | Myoclonus | 0 | AFG3L2 CL E G H | 10939 | 313772 | | | | ORPHA | 1 | | 480 | 315 | 604581 |
HP:0001336 | HP:0001336 | Myoclonus | 0 | AFG3L2 CL E G H | 10939 | 614487 | Spastic ataxia 5, autosomal recessive | 614487 | C3280977 | OMIM | 1 | | 480 | 315 | 604581 |
HP:0001336 | HP:0001336 | Myoclonus | 0 | AMT CL E G H | 275 | 605899 | Non-ketotic hyperglycinemia | 605899 | C0751748 | OMIM | 1 | | 591 | 473 | 238310 |
HP:0001336 | HP:0001336 | Myoclonus | 0 | AP5Z1 CL E G H | 9907 | 306511 | | | | ORPHA | 1 | | 1021 | 22197 | 613653 |
HP:0001336 | HP:0001336 | Myoclonus | 0 | APP CL E G H | 351 | 1020 | | | | ORPHA | 1 | | 506 | 620 | 104760 |
HP:0001336 | HP:0001336 | Myoclonus | 0 | APP CL E G H | 351 | 324708 | | | | ORPHA | 1 | | 506 | 620 | 104760 |
HP:0001336 | HP:0001336 | Myoclonus | 0 | ARX CL E G H | 170302 | 3451 | Meier Blumberg Imahorn syndrome | | | ORPHA | 1 | | 810 | 18060 | 300382 |
HP:0001336 | HP:0001336 | Myoclonus | 0 | ASAH1 CL E G H | 427 | 159950 | Jankovic Rivera syndrome | 159950 | C1834569 | OMIM | 1 | | 913 | 735 | 613468 |
HP:0001336 | HP:0001336 | Myoclonus | 0 | ATAD1 CL E G H | 84896 | 618011 | HYPEREKPLEXIA 4 | 618011 | CN248518 | OMIM | 1 | | 183 | 25903 | 614452 |
HP:0001336 | HP:0001336 | Myoclonus | 0 | ATAD1 CL E G H | 84896 | 3197 | Lateral body wall defect | | | ORPHA | 1 | | 183 | 25903 | 614452 |
HP:0001336 | HP:0001336 | Myoclonus | 0 | ATM CL E G H | 472 | 208900 | Ataxia-telangiectasia syndrome | 208900 | C0004135 | OMIM | 1 | | 14692 | 795 | 607585 |
HP:0001336 | HP:0001336 | Myoclonus | 0 | ATN1 CL E G H | 1822 | 101 | | | | ORPHA | 1 | | 213 | 3033 | 607462 |
HP:0001336 | HP:0001336 | Myoclonus | 0 | ATP13A2 CL E G H | 23400 | 314632 | | | | ORPHA | 1 | | 974 | 30213 | 610513 |
HP:0001336 | HP:0001336 | Myoclonus | 0 | ATP13A2 CL E G H | 23400 | 306674 | | | | ORPHA | 1 | | 974 | 30213 | 610513 |
HP:0001336 | HP:0001336 | Myoclonus | 0 | ATP13A2 CL E G H | 23400 | 606693 | Parkinson disease 9 | 606693 | C1847640 | OMIM | 1 | | 974 | 30213 | 610513 |
HP:0001336 | HP:0001336 | Myoclonus | 0 | ATXN2 CL E G H | 6311 | 183090 | Spinocerebellar ataxia 2 | 183090 | C0752121 | OMIM | 1 | | 115 | 10555 | 601517 |
HP:0001336 | HP:0001336 | Myoclonus | 0 | BSCL2 CL E G H | 26580 | 363400 | | | | ORPHA | 1 | | 510 | 15832 | 606158 |
HP:0001336 | HP:0001336 | Myoclonus | 0 | BSCL2 CL E G H | 26580 | 615924 | Encephalopathy, progressive, with or without lipodystrophy | 615924 | C4014700 | OMIM | 1 | | 510 | 15832 | 606158 |
HP:0001336 | HP:0001336 | Myoclonus | 0 | CACNA1B CL E G H | 774 | 614860 | Dystonia 23 | 614860 | C3538999 | OMIM | 1 | | 1288 | 1389 | 601012 |
HP:0001336 | HP:0001336 | Myoclonus | 0 | CACNA1E CL E G H | 777 | 618285 | 618285 | 618285 | | OMIM | 1 | | 1583 | 1392 | 601013 |
HP:0001336 | HP:0001336 | Myoclonus | 0 | CARS2 CL E G H | 79587 | 616672 | Combined oxidative phosphorylation deficiency 27 | 616672 | C4225251 | OMIM | 1 | | 825 | 25695 | 612800 |
HP:0001336 | HP:0001336 | Myoclonus | 0 | CCDC88A CL E G H | 55704 | 617507 | PEHO-like syndrome | 617507 | C1850056 | OMIM | 1 | | 838 | 25523 | 609736 |
HP:0001336 | HP:0001336 | Myoclonus | 0 | CDKL5 CL E G H | 6792 | 300672 | Early infantile epileptic encephalopathy 2 | 300672 | C1839333 | OMIM | 1 | | 1738 | 11411 | 300203 |
HP:0001336 | HP:0001336 | Myoclonus | 0 | CDKL5 CL E G H | 6792 | 3451 | Meier Blumberg Imahorn syndrome | | | ORPHA | 1 | | 1738 | 11411 | 300203 |
HP:0001336 | HP:0001336 | Myoclonus | 0 | CERS1 CL E G H | 10715 | 616230 | Epilepsy, progressive myoclonic 8 | 616230 | C4015619 | OMIM | 1 | | 411 | 14253 | 606919 |
HP:0001336 | HP:0001336 | Myoclonus | 0 | CHD2 CL E G H | 1106 | 2382 | | | | ORPHA | 1 | | 1838 | 1917 | 602119 |
HP:0001336 | HP:0001336 | Myoclonus | 0 | CHMP2B CL E G H | 25978 | 600795 | Frontotemporal Dementia, Chromosome 3-Linked | 600795 | C1833296 | OMIM | 1 | | 160 | 24537 | 609512 |
HP:0001336 | HP:0001336 | Myoclonus | 0 | CIZ1 CL E G H | 25792 | 420492 | | | | ORPHA | 1 | | 352 | 16744 | 611420 |
HP:0001336 | HP:0001336 | Myoclonus | 0 | CLN3 CL E G H | 1201 | 204200 | Juvenile neuronal ceroid lipofuscinosis | 204200 | C0751383 | OMIM | 1 | | 1015 | 2074 | 607042 |
HP:0001336 | HP:0001336 | Myoclonus | 0 | CLN5 CL E G H | 1203 | 256731 | Ceroid lipofuscinosis neuronal 5 | 256731 | C1850442 | OMIM | 1 | | 702 | 2076 | 608102 |
HP:0001336 | HP:0001336 | Myoclonus | 0 | CLN6 CL E G H | 54982 | 204300 | Adult neuronal ceroid lipofuscinosis | 204300 | C0022797 | OMIM | 1 | | 661 | 2077 | 606725 |
HP:0001336 | HP:0001336 | Myoclonus | 0 | CLN8 CL E G H | 2055 | 600143 | Ceroid lipofuscinosis neuronal 8 | 600143 | C1838570 | OMIM | 1 | | 640 | 2079 | 607837 |
HP:0001336 | HP:0001336 | Myoclonus | 0 | CNPY3 CL E G H | 10695 | 3451 | Meier Blumberg Imahorn syndrome | | | ORPHA | 1 | | 44 | 11968 | 610774 |
HP:0001336 | HP:0001336 | Myoclonus | 0 | CNTN2 CL E G H | 6900 | 86814 | | | | ORPHA | 1 | | 676 | 2172 | 190197 |
HP:0001336 | HP:0001336 | Myoclonus | 0 | CPLX1 CL E G H | 10815 | 352582 | | | | ORPHA | 1 | | 206 | 2309 | 605032 |
HP:0001336 | HP:0001336 | Myoclonus | 0 | CSTB CL E G H | 1476 | 254800 | Unverricht-Lundborg syndrome | 254800 | C0751785 | OMIM | 1 | | 261 | 2482 | 601145 |
HP:0001336 | HP:0001336 | Myoclonus | 0 | CTNND2 CL E G H | 1501 | 86814 | | | | ORPHA | 1 | | 351 | 2516 | 604275 |
HP:0001336 | HP:0001336 | Myoclonus | 0 | CTSF CL E G H | 8722 | 615362 | Ceroid lipofuscinosis, neuronal, 13 | 615362 | C3715049 | OMIM | 1 | | 218 | 2531 | 603539 |
HP:0001336 | HP:0001336 | Myoclonus | 0 | CUX2 CL E G H | 23316 | 2382 | | | | ORPHA | 1 | | 227 | 19347 | 610648 |
HP:0001336 | HP:0001336 | Myoclonus | 0 | CYP27A1 CL E G H | 1593 | 909 | | | | ORPHA | 1 | | 940 | 2605 | 606530 |
HP:0001336 | HP:0001336 | Myoclonus | 0 | DAB1 CL E G H | 1600 | 363710 | | | | ORPHA | 1 | | 107 | 2661 | 603448 |
HP:0001336 | HP:0001336 | Myoclonus | 0 | DDC CL E G H | 1644 | 608643 | Deficiency of aromatic-L-amino-acid decarboxylase | 608643 | C1291564 | OMIM | 1 | | 503 | 2719 | 107930 |
HP:0001336 | HP:0001336 | Myoclonus | 0 | DENND5A CL E G H | 23258 | 617281 | Epileptic encephalopathy, early infantile, 49 | 617281 | C4310635 | OMIM | 1 | | 463 | 19344 | 617278 |
HP:0001336 | HP:0001336 | Myoclonus | 0 | DNAJC5 CL E G H | 80331 | 162350 | Ceroid lipofuscinosis neuronal 4B autosomal dominant | 162350 | C1834207 | OMIM | 1 | | 428 | 16235 | 611203 |
HP:0001336 | HP:0001336 | Myoclonus | 0 | DNM1 CL E G H | 1759 | 2382 | | | | ORPHA | 1 | | 765 | 2972 | 602377 |
HP:0001336 | HP:0001336 | Myoclonus | 0 | EPM2A CL E G H | 7957 | 254780 | Lafora disease | 254780 | C0751783 | OMIM | 1 | | 416 | 3413 | 607566 |
HP:0001336 | HP:0001336 | Myoclonus | 0 | FARS2 CL E G H | 10667 | 614946 | Combined oxidative phosphorylation deficiency 14 | 614946 | C3554168 | OMIM | 1 | | 564 | 21062 | 611592 |
HP:0001336 | HP:0001336 | Myoclonus | 0 | FBXO7 CL E G H | 25793 | 171695 | | | | ORPHA | 1 | | 243 | 13586 | 605648 |
HP:0001336 | HP:0001336 | Myoclonus | 0 | FOXRED1 CL E G H | 55572 | 618241 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 19 | 618241 | | OMIM | 1 | | 323 | 26927 | 613622 |
HP:0001336 | HP:0001336 | Myoclonus | 0 | FRRS1L CL E G H | 23732 | 616981 | Epileptic encephalopathy, early infantile, 37 | 616981 | C4310770 | OMIM | 1 | | 402 | 1362 | 604574 |
HP:0001336 | HP:0001336 | Myoclonus | 0 | GABRB2 CL E G H | 2561 | 617829 | EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 2 | 617829 | CN757794 | OMIM | 1 | | 494 | 4082 | 600232 |
HP:0001336 | HP:0001336 | Myoclonus | 0 | GABRB3 CL E G H | 2562 | 2382 | | | | ORPHA | 1 | | 838 | 4083 | 137192 |
HP:0001336 | HP:0001336 | Myoclonus | 0 | GAMT CL E G H | 2593 | 612736 | Deficiency of guanidinoacetate methyltransferase | 612736 | C0574080 | OMIM | 1 | | 588 | 4136 | 601240 |
HP:0001336 | HP:0001336 | Myoclonus | 0 | GBA CL E G H | 2629 | 231000 | Subacute neuronopathic Gaucher's disease | 231000 | C0268251 | OMIM | 1 | | | 4177 | 606463 |
HP:0001336 | HP:0001336 | Myoclonus | 0 | GCSH CL E G H | 2653 | 605899 | Non-ketotic hyperglycinemia | 605899 | C0751748 | OMIM | 1 | | 176 | 4208 | 238330 |
HP:0001336 | HP:0001336 | Myoclonus | 0 | GLDC CL E G H | 2731 | 605899 | Non-ketotic hyperglycinemia | 605899 | C0751748 | OMIM | 1 | | 2238 | 4313 | 238300 |
HP:0001336 | HP:0001336 | Myoclonus | 0 | GLRA1 CL E G H | 2741 | 149400 | Hyperekplexia hereditary | 149400 | C1835614 | OMIM | 1 | | 447 | 4326 | 138491 |
HP:0001336 | HP:0001336 | Myoclonus | 0 | GLRA1 CL E G H | 2741 | 3197 | Lateral body wall defect | | | ORPHA | 1 | | 447 | 4326 | 138491 |
HP:0001336 | HP:0001336 | Myoclonus | 0 | GLRB CL E G H | 2743 | 614619 | Hyperekplexia 2 | 614619 | C3553291 | OMIM | 1 | | 379 | 4329 | 138492 |
HP:0001336 | HP:0001336 | Myoclonus | 0 | GLRB CL E G H | 2743 | 3197 | Lateral body wall defect | | | ORPHA | 1 | | 379 | 4329 | 138492 |
HP:0001336 | HP:0001336 | Myoclonus | 0 | GLYCTK CL E G H | 132158 | 220120 | Deficiency of glycerate kinase | 220120 | C1291386 | OMIM | 1 | | 166 | 24247 | 610516 |
HP:0001336 | HP:0001336 | Myoclonus | 0 | GOSR2 CL E G H | 9570 | 614018 | Epilepsy, progressive myoclonic 6 | 614018 | C3279627 | OMIM | 1 | | 320 | 4431 | 604027 |
HP:0001336 | HP:0001336 | Myoclonus | 0 | GPHN CL E G H | 10243 | 149400 | Hyperekplexia hereditary | 149400 | C1835614 | OMIM | 1 | | 1473 | 15465 | 603930 |
HP:0001336 | HP:0001336 | Myoclonus | 0 | GPHN CL E G H | 10243 | 3197 | Lateral body wall defect | | | ORPHA | 1 | | 1473 | 15465 | 603930 |
HP:0001336 | HP:0001336 | Myoclonus | 0 | GRIN1 CL E G H | 2902 | 614254 | Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant | 614254 | C3280282 | OMIM | 1 | | 929 | 4584 | 138249 |
HP:0001336 | HP:0001336 | Myoclonus | 0 | GRIN2B CL E G H | 2904 | 3451 | Meier Blumberg Imahorn syndrome | | | ORPHA | 1 | | 1353 | 4586 | 138252 |
HP:0001336 | HP:0001336 | Myoclonus | 0 | GUF1 CL E G H | 60558 | 617065 | Epileptic encephalopathy, early infantile, 40 | 617065 | C4310737 | OMIM | 1 | | 309 | 25799 | 617064 |
HP:0001336 | HP:0001336 | Myoclonus | 0 | GUF1 CL E G H | 60558 | 3451 | Meier Blumberg Imahorn syndrome | | | ORPHA | 1 | | 309 | 25799 | 617064 |
HP:0001336 | HP:0001336 | Myoclonus | 0 | HIBCH CL E G H | 26275 | 250620 | Beta-hydroxyisobutyryl-CoA deacylase deficiency | 250620 | C0342738 | OMIM | 1 | | 235 | 4908 | 610690 |
HP:0001336 | HP:0001336 | Myoclonus | 0 | HMGCL CL E G H | 3155 | 246450 | Deficiency of hydroxymethylglutaryl-CoA lyase | 246450 | C0268601 | OMIM | 1 | | 420 | 5005 | 613898 |
HP:0001336 | HP:0001336 | Myoclonus | 0 | KCNA2 CL E G H | 3737 | 616366 | Epileptic encephalopathy, early infantile, 32 | 616366 | C4225350 | OMIM | 1 | | 401 | 6220 | 176262 |
HP:0001336 | HP:0001336 | Myoclonus | 0 | KCNC1 CL E G H | 3746 | 616187 | Epilepsy, progressive myoclonic 7 | 616187 | C4015420 | OMIM | 1 | | 391 | 6233 | 176258 |
HP:0001336 | HP:0001336 | Myoclonus | 0 | KCND3 CL E G H | 3752 | 607346 | Spinocerebellar ataxia 19 | 607346 | C1846367 | OMIM | 1 | | 467 | 6239 | 605411 |
HP:0001336 | HP:0001336 | Myoclonus | 0 | KCNQ2 CL E G H | 3785 | 306 | | | | ORPHA | 1 | | 1962 | 6296 | 602235 |
HP:0001336 | HP:0001336 | Myoclonus | 0 | KCNQ3 CL E G H | 3786 | 306 | | | | ORPHA | 1 | | 1227 | 6297 | 602232 |
HP:0001336 | HP:0001336 | Myoclonus | 0 | KCTD17 CL E G H | 79734 | 616398 | Dystonia 26, myoclonic | 616398 | C4225341 | OMIM | 1 | | 144 | 25705 | 616386 |
HP:0001336 | HP:0001336 | Myoclonus | 0 | KIF5A CL E G H | 3798 | 617235 | Myoclonus, intractable, neonatal | 617235 | C4310658 | OMIM | 1 | | 1014 | 6323 | 602821 |
HP:0001336 | HP:0001336 | Myoclonus | 0 | LIAS CL E G H | 11019 | 614462 | Pyruvate dehydrogenase lipoic acid synthetase deficiency | 614462 | C3280887 | OMIM | 1 | | 410 | 16429 | 607031 |
HP:0001336 | HP:0001336 | Myoclonus | 0 | LMNB2 CL E G H | 84823 | 616540 | Epilepsy, progressive myoclonic, 9 | 616540 | C4225289 | OMIM | 1 | | 548 | 6638 | 150341 |
HP:0001336 | HP:0001336 | Myoclonus | 0 | MAPK10 CL E G H | 5602 | 2382 | | | | ORPHA | 1 | | 70 | 6872 | 602897 |
HP:0001336 | HP:0001336 | Myoclonus | 0 | MECP2 CL E G H | 4204 | 300673 | Severe neonatal-onset encephalopathy with microcephaly | 300673 | C1968556 | OMIM | 1 | | 1925 | 6990 | 300005 |
HP:0001336 | HP:0001336 | Myoclonus | 0 | MECR CL E G H | 51102 | 617282 | Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities | 617282 | C4310634 | OMIM | 1 | | 151 | 19691 | 608205 |
HP:0001336 | HP:0001336 | Myoclonus | 0 | MT-TF CL E G H | 4558 | 545000 | Myoclonus with epilepsy with ragged red fibers | 545000 | C0162672 | OMIM | 1 | | | 7481 | 590070 |
HP:0001336 | HP:0001336 | Myoclonus | 0 | MT-TI CL E G H | 4565 | 545000 | Myoclonus with epilepsy with ragged red fibers | 545000 | C0162672 | OMIM | 1 | | | 7488 | 590045 |
HP:0001336 | HP:0001336 | Myoclonus | 0 | MT-TK CL E G H | 4566 | 545000 | Myoclonus with epilepsy with ragged red fibers | 545000 | C0162672 | OMIM | 1 | | | 7489 | 590060 |
HP:0001336 | HP:0001336 | Myoclonus | 0 | MT-TL1 CL E G H | 4567 | 545000 | Myoclonus with epilepsy with ragged red fibers | 545000 | C0162672 | OMIM | 1 | | | 7490 | 590050 |
HP:0001336 | HP:0001336 | Myoclonus | 0 | MT-TP CL E G H | 4571 | 545000 | Myoclonus with epilepsy with ragged red fibers | 545000 | C0162672 | OMIM | 1 | | | 7494 | 590075 |
HP:0001336 | HP:0001336 | Myoclonus | 0 | MTPAP CL E G H | 55149 | 254343 | | | | ORPHA | 1 | | 346 | 25532 | 613669 |
HP:0001336 | HP:0001336 | Myoclonus | 0 | NAGA CL E G H | 4668 | 79279 | | | | ORPHA | 1 | | 230 | 7631 | 104170 |
HP:0001336 | HP:0001336 | Myoclonus | 0 | NAGA CL E G H | 4668 | 609241 | Schindler disease, type 1 | 609241 | C1836544 | OMIM | 1 | | 230 | 7631 | 104170 |
HP:0001336 | HP:0001336 | Myoclonus | 0 | NDUFAF3 CL E G H | 25915 | 618240 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 18 | 618240 | | OMIM | 1 | | 123 | 29918 | 612911 |
HP:0001336 | HP:0001336 | Myoclonus | 0 | NDUFV1 CL E G H | 4723 | 618225 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 4 | 618225 | | OMIM | 1 | | 315 | 7716 | 161015 |
HP:0001336 | HP:0001336 | Myoclonus | 0 | NEU1 CL E G H | 4758 | 812 | | | | ORPHA | 1 | | 185 | 7758 | 608272 |
HP:0001336 | HP:0001336 | Myoclonus | 0 | NEU1 CL E G H | 4758 | 256550 | Sialidosis, type II | 256550 | C0268226 | OMIM | 1 | | 185 | 7758 | 608272 |
HP:0001336 | HP:0001336 | Myoclonus | 0 | NGLY1 CL E G H | 55768 | 615273 | Congenital disorder of deglycosylation | 615273 | C3808991 | OMIM | 1 | | 656 | 17646 | 610661 |
HP:0001336 | HP:0001336 | Myoclonus | 0 | NHLRC1 CL E G H | 378884 | 254780 | Lafora disease | 254780 | C0751783 | OMIM | 1 | | 351 | 21576 | 608072 |
HP:0001336 | HP:0001336 | Myoclonus | 0 | NME1 CL E G H | 4830 | 256700 | Neuroblastoma | 256700 | C0027819 | OMIM | 1 | | 16 | 7849 | 156490 |
HP:0001336 | HP:0001336 | Myoclonus | 0 | NOL3 CL E G H | 8996 | 614937 | Myoclonus, familial cortical | 614937 | C3539916 | OMIM | 1 | | 57 | 7869 | 605235 |
HP:0001336 | HP:0001336 | Myoclonus | 0 | NTRK2 CL E G H | 4915 | 3451 | Meier Blumberg Imahorn syndrome | | | ORPHA | 1 | | 509 | 8032 | 600456 |
HP:0001336 | HP:0001336 | Myoclonus | 0 | PHACTR1 CL E G H | 221692 | 3451 | Meier Blumberg Imahorn syndrome | | | ORPHA | 1 | | 97 | 20990 | 608723 |
HP:0001336 | HP:0001336 | Myoclonus | 0 | PIGA CL E G H | 5277 | 3451 | Meier Blumberg Imahorn syndrome | | | ORPHA | 1 | | 483 | 8957 | 311770 |
HP:0001336 | HP:0001336 | Myoclonus | 0 | PLCB1 CL E G H | 23236 | 3451 | Meier Blumberg Imahorn syndrome | | | ORPHA | 1 | | 1107 | 15917 | 607120 |
HP:0001336 | HP:0001336 | Myoclonus | 0 | PLPBP CL E G H | 11212 | 617290 | Epilepsy, early-onset, vitamin b6-dependent | 617290 | C4310632 | OMIM | 1 | | 242 | 9457 | 604436 |
HP:0001336 | HP:0001336 | Myoclonus | 0 | PNPO CL E G H | 55163 | 79096 | | | | ORPHA | 1 | | 317 | 30260 | 603287 |
HP:0001336 | HP:0001336 | Myoclonus | 0 | PNPO CL E G H | 55163 | 610090 | Pyridoxal 5'-phosphate-dependent epilepsy | 610090 | C1864723 | OMIM | 1 | | 317 | 30260 | 603287 |
HP:0001336 | HP:0001336 | Myoclonus | 0 | POLG CL E G H | 5428 | 726 | | | | ORPHA | 1 | | 2324 | 9179 | 174763 |
HP:0001336 | HP:0001336 | Myoclonus | 0 | POLG CL E G H | 5428 | 70595 | | | | ORPHA | 1 | | 2324 | 9179 | 174763 |
HP:0001336 | HP:0001336 | Myoclonus | 0 | POLG CL E G H | 5428 | 203700 | Progressive sclerosing poliodystrophy | 203700 | C0205710 | OMIM | 1 | | 2324 | 9179 | 174763 |
HP:0001336 | HP:0001336 | Myoclonus | 0 | POLG CL E G H | 5428 | 607459 | Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis | 607459 | C1843851 | OMIM | 1 | | 2324 | 9179 | 174763 |
HP:0001336 | HP:0001336 | Myoclonus | 0 | POMGNT1 CL E G H | 55624 | 253280 | Muscle eye brain disease | 253280 | C0457133 | OMIM | 1 | | 1174 | 19139 | 606822 |
HP:0001336 | HP:0001336 | Myoclonus | 0 | PPT1 CL E G H | 5538 | 256730 | Ceroid lipofuscinosis neuronal 1 | 256730 | C1850451 | OMIM | 1 | | 617 | 9325 | 600722 |
HP:0001336 | HP:0001336 | Myoclonus | 0 | PRDM8 CL E G H | 56978 | 324290 | | | | ORPHA | 1 | | 439 | 13993 | 616639 |
HP:0001336 | HP:0001336 | Myoclonus | 0 | PRDM8 CL E G H | 56978 | 616640 | Epilepsy, progressive myoclonic, 10 | 616640 | C4225258 | OMIM | 1 | | 439 | 13993 | 616639 |
HP:0001336 | HP:0001336 | Myoclonus | 0 | PRNP CL E G H | 5621 | 282166 | | | | ORPHA | 1 | | 191 | 9449 | 176640 |
HP:0001336 | HP:0001336 | Myoclonus | 0 | PRNP CL E G H | 5621 | 600072 | Fatal familial insomnia | 600072 | C0206042 | OMIM | 1 | | 191 | 9449 | 176640 |
HP:0001336 | HP:0001336 | Myoclonus | 0 | PRNP CL E G H | 5621 | 137440 | Gerstmann-Straussler-Scheinker syndrome | 137440 | C0017495 | OMIM | 1 | | 191 | 9449 | 176640 |
HP:0001336 | HP:0001336 | Myoclonus | 0 | PRNP CL E G H | 5621 | 123400 | Jakob-Creutzfeldt disease | 123400 | C0022336 | OMIM | 1 | | 191 | 9449 | 176640 |
HP:0001336 | HP:0001336 | Myoclonus | 0 | PRRT2 CL E G H | 112476 | 306 | | | | ORPHA | 1 | | 799 | 30500 | 614386 |
HP:0001336 | HP:0001336 | Myoclonus | 0 | PSAP CL E G H | 5660 | 139406 | | | | ORPHA | 1 | | 772 | 9498 | 176801 |
HP:0001336 | HP:0001336 | Myoclonus | 0 | PSAP CL E G H | 5660 | 611721 | Combined saposin deficiency | 611721 | C2673635 | OMIM | 1 | | 772 | 9498 | 176801 |
HP:0001336 | HP:0001336 | Myoclonus | 0 | PSAP CL E G H | 5660 | 610539 | Gaucher disease, atypical, due to saposin C deficiency | 610539 | C1864651 | OMIM | 1 | | 772 | 9498 | 176801 |
HP:0001336 | HP:0001336 | Myoclonus | 0 | PSEN1 CL E G H | 5663 | 1020 | | | | ORPHA | 1 | | 501 | 9508 | 104311 |
HP:0001336 | HP:0001336 | Myoclonus | 0 | PSEN1 CL E G H | 5663 | 607822 | Alzheimer disease, type 3 | 607822 | C1843013 | OMIM | 1 | | 501 | 9508 | 104311 |
HP:0001336 | HP:0001336 | Myoclonus | 0 | PSEN2 CL E G H | 5664 | 1020 | | | | ORPHA | 1 | | 279 | 9509 | 600759 |
HP:0001336 | HP:0001336 | Myoclonus | 0 | PURA CL E G H | 5813 | 616158 | Mental retardation, autosomal dominant 31 | 616158 | C4015357 | OMIM | 1 | | 459 | 9701 | 600473 |
HP:0001336 | HP:0001336 | Myoclonus | 0 | QDPR CL E G H | 5860 | 261630 | Dihydropteridine reductase deficiency | 261630 | C0268465 | OMIM | 1 | | 319 | 9752 | 612676 |
HP:0001336 | HP:0001336 | Myoclonus | 0 | RFT1 CL E G H | 91869 | 612015 | Congenital disorder of glycosylation type 1N | 612015 | C2677590 | OMIM | 1 | | 505 | 30220 | 611908 |
HP:0001336 | HP:0001336 | Myoclonus | 0 | SAMD12 CL E G H | 401474 | 86814 | | | | ORPHA | 1 | | 75 | 31750 | 618073 |
HP:0001336 | HP:0001336 | Myoclonus | 0 | SC5D CL E G H | 6309 | 46059 | | | | ORPHA | 1 | | 242 | 10547 | 602286 |
HP:0001336 | HP:0001336 | Myoclonus | 0 | SCARB2 CL E G H | 950 | 254900 | Epilepsy, progressive myoclonic 4, with or without renal failure | 254900 | C0751779 | OMIM | 1 | | 474 | 1665 | 602257 |
HP:0001336 | HP:0001336 | Myoclonus | 0 | SCN1A CL E G H | 6323 | 2382 | | | | ORPHA | 1 | | 4030 | 10585 | 182389 |
HP:0001336 | HP:0001336 | Myoclonus | 0 | SCN2A CL E G H | 6326 | 306 | | | | ORPHA | 1 | | 2280 | 10588 | 182390 |
HP:0001336 | HP:0001336 | Myoclonus | 0 | SCN2A CL E G H | 6326 | 3451 | Meier Blumberg Imahorn syndrome | | | ORPHA | 1 | | 2280 | 10588 | 182390 |
HP:0001336 | HP:0001336 | Myoclonus | 0 | SCN8A CL E G H | 6334 | 306 | | | | ORPHA | 1 | | 1799 | 10596 | 600702 |
HP:0001336 | HP:0001336 | Myoclonus | 0 | SDHA CL E G H | 6389 | 252011 | Mitochondrial complex II deficiency | 252011 | C1855008 | OMIM | 1 | | 2503 | 10680 | 600857 |
HP:0001336 | HP:0001336 | Myoclonus | 0 | SDHAF1 CL E G H | 644096 | 252011 | Mitochondrial complex II deficiency | 252011 | C1855008 | OMIM | 1 | | 77 | 33867 | 612848 |
HP:0001336 | HP:0001336 | Myoclonus | 0 | SDHD CL E G H | 6392 | 252011 | Mitochondrial complex II deficiency | 252011 | C1855008 | OMIM | 1 | | 686 | 10683 | 602690 |
HP:0001336 | HP:0001336 | Myoclonus | 0 | SERPINI1 CL E G H | 5274 | 604218 | Encephalopathy, familial, with neuroserpin inclusion bodies | 604218 | C1858680 | OMIM | 1 | | 310 | 8943 | 602445 |
HP:0001336 | HP:0001336 | Myoclonus | 0 | SGCE CL E G H | 8910 | 159900 | Myoclonic dystonia | 159900 | C1834570 | OMIM | 1 | | 568 | 10808 | 604149 |
HP:0001336 | HP:0001336 | Myoclonus | 0 | SIK1 CL E G H | 150094 | 1935 | | | | ORPHA | 1 | | 909 | 11142 | 605705 |
HP:0001336 | HP:0001336 | Myoclonus | 0 | SIK1 CL E G H | 150094 | 3451 | Meier Blumberg Imahorn syndrome | | | ORPHA | 1 | | 909 | 11142 | 605705 |
HP:0001336 | HP:0001336 | Myoclonus | 0 | SLC25A22 CL E G H | 79751 | 1935 | | | | ORPHA | 1 | | 551 | 19954 | 609302 |
HP:0001336 | HP:0001336 | Myoclonus | 0 | SLC25A46 CL E G H | 91137 | 616505 | NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB | 616505 | C4225302 | OMIM | 1 | | 385 | 25198 | 610826 |
HP:0001336 | HP:0001336 | Myoclonus | 0 | SLC2A1 CL E G H | 6513 | 606777 | GLUT1 deficiency syndrome 1 | 606777 | CN030711 | OMIM | 1 | | 965 | 11005 | 138140 |
HP:0001336 | HP:0001336 | Myoclonus | 0 | SLC52A2 CL E G H | 79581 | 97229 | | | | ORPHA | 1 | | 520 | 30224 | 607882 |
HP:0001336 | HP:0001336 | Myoclonus | 0 | SLC52A3 CL E G H | 113278 | 97229 | | | | ORPHA | 1 | | 464 | 16187 | 613350 |
HP:0001336 | HP:0001336 | Myoclonus | 0 | SLC6A5 CL E G H | 9152 | 3197 | Lateral body wall defect | | | ORPHA | 1 | | 718 | 11051 | 604159 |
HP:0001336 | HP:0001336 | Myoclonus | 0 | SNCA CL E G H | 6622 | 171695 | | | | ORPHA | 1 | | 193 | 11138 | 163890 |
HP:0001336 | HP:0001336 | Myoclonus | 0 | SNCA CL E G H | 6622 | 168601 | Parkinson disease 1 | 168601 | C1868595 | OMIM | 1 | | 193 | 11138 | 163890 |
HP:0001336 | HP:0001336 | Myoclonus | 0 | SORL1 CL E G H | 6653 | 1020 | | | | ORPHA | 1 | | 537 | 11185 | 602005 |
HP:0001336 | HP:0001336 | Myoclonus | 0 | SPTAN1 CL E G H | 6709 | 3451 | Meier Blumberg Imahorn syndrome | | | ORPHA | 1 | | 2267 | 11273 | 182810 |
HP:0001336 | HP:0001336 | Myoclonus | 0 | ST3GAL3 CL E G H | 6487 | 3451 | Meier Blumberg Imahorn syndrome | | | ORPHA | 1 | | 340 | 10866 | 606494 |
HP:0001336 | HP:0001336 | Myoclonus | 0 | ST3GAL5 CL E G H | 8869 | 609056 | Amish infantile epilepsy syndrome | 609056 | C1836824 | OMIM | 1 | | 373 | 10872 | 604402 |
HP:0001336 | HP:0001336 | Myoclonus | 0 | STAMBP CL E G H | 10617 | 614261 | Microcephaly-capillary malformation syndrome | 614261 | C3280296 | OMIM | 1 | | 186 | 16950 | 606247 |
HP:0001336 | HP:0001336 | Myoclonus | 0 | STXBP1 CL E G H | 6812 | 3451 | Meier Blumberg Imahorn syndrome | | | ORPHA | 1 | | 1017 | 11444 | 602926 |
HP:0001336 | HP:0001336 | Myoclonus | 0 | TAF1 CL E G H | 6872 | 53351 | | | | ORPHA | 1 | | 534 | 11535 | 313650 |
HP:0001336 | HP:0001336 | Myoclonus | 0 | TAF1 CL E G H | 6872 | 314250 | Dystonia 3, torsion, X-linked | 314250 | C1839130 | OMIM | 1 | | 534 | 11535 | 313650 |
HP:0001336 | HP:0001336 | Myoclonus | 0 | TBC1D24 CL E G H | 57465 | 352582 | | | | ORPHA | 1 | | 893 | 29203 | 613577 |
HP:0001336 | HP:0001336 | Myoclonus | 0 | TBC1D24 CL E G H | 57465 | 352596 | | | | ORPHA | 1 | | 893 | 29203 | 613577 |
HP:0001336 | HP:0001336 | Myoclonus | 0 | TBC1D24 CL E G H | 57465 | 615338 | Early infantile epileptic encephalopathy 16 | 615338 | C3809173 | OMIM | 1 | | 893 | 29203 | 613577 |
HP:0001336 | HP:0001336 | Myoclonus | 0 | TBP CL E G H | 6908 | 607136 | Spinocerebellar ataxia 17 | 607136 | C1846707 | OMIM | 1 | | 131 | 11588 | 600075 |
HP:0001336 | HP:0001336 | Myoclonus | 0 | TH CL E G H | 7054 | 101150 | | | | ORPHA | 1 | | 967 | 11782 | 191290 |
HP:0001336 | HP:0001336 | Myoclonus | 0 | TMEM231 CL E G H | 79583 | 2752 | | | | ORPHA | 1 | | 463 | 37234 | 614949 |
HP:0001336 | HP:0001336 | Myoclonus | 0 | TOE1 CL E G H | 114034 | 614969 | Pontocerebellar hypoplasia, type 7 | 614969 | C3554226 | OMIM | 1 | | 272 | 15954 | 613931 |
HP:0001336 | HP:0001336 | Myoclonus | 0 | TOMM40 CL E G H | 10452 | 1020 | | | | ORPHA | 1 | | 29 | 18001 | 608061 |
HP:0001336 | HP:0001336 | Myoclonus | 0 | TPP1 CL E G H | 1200 | 204500 | Ceroid lipofuscinosis neuronal 2 | 204500 | C1876161 | OMIM | 1 | | 1023 | 2073 | 607998 |
HP:0001336 | HP:0001336 | Myoclonus | 0 | TRAK1 CL E G H | 22906 | 618201 | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 68 | 618201 | | OMIM | 1 | | 208 | 29947 | 608112 |
HP:0001336 | HP:0001336 | Myoclonus | 0 | TRAPPC12 CL E G H | 51112 | 617669 | ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND SPASTICITY | 617669 | C4540059 | OMIM | 1 | | 202 | 24284 | 614139 |
HP:0001336 | HP:0001336 | Myoclonus | 0 | TREM2 CL E G H | 54209 | 1020 | | | | ORPHA | 1 | | 154 | 17761 | 605086 |
HP:0001336 | HP:0001336 | Myoclonus | 0 | TSEN54 CL E G H | 283989 | 225753 | Pontocerebellar hypoplasia type 4 | 225753 | C1856974 | OMIM | 1 | | 414 | 27561 | 608755 |
HP:0001336 | HP:0001336 | Myoclonus | 0 | TSPYL1 CL E G H | 7259 | 168593 | | | | ORPHA | 1 | | 72 | 12382 | 604714 |
HP:0001336 | HP:0001336 | Myoclonus | 0 | TWNK CL E G H | 56652 | 70595 | | | | ORPHA | 1 | | 450 | 1160 | 606075 |
HP:0001336 | HP:0001336 | Myoclonus | 0 | TWNK CL E G H | 56652 | 607459 | Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis | 607459 | C1843851 | OMIM | 1 | | 450 | 1160 | 606075 |
HP:0001336 | HP:0001336 | Myoclonus | 0 | TYROBP CL E G H | 7305 | 221770 | Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy | 221770 | C1857316 | OMIM | 1 | | 110 | 12449 | 604142 |
HP:0001336 | HP:0001336 | Myoclonus | 0 | VPS13D CL E G H | 55187 | 607317 | Spinocerebellar ataxia autosomal recessive 4 | 607317 | C1846492 | OMIM | 1 | | 1034 | 23595 | 608877 |
HP:0001336 | HP:0001336 | Myoclonus | 0 | ZNHIT3 CL E G H | 9326 | 260565 | PEHO syndrome | 260565 | C1850055 | OMIM | 1 | | 136 | 12309 | 604500 |
HP:0001336 | HP:0025357 | Erratic myoclonus | 1 | ABCA7 CL E G H | 10347 | 1020 | | | | ORPHA | 1 | | 269 | 37 | 605414 |
HP:0001336 | HP:0003739 | Myoclonic spasms | 1 | ABCA7 CL E G H | 10347 | 1020 | | | | ORPHA | 1 | | 269 | 37 | 605414 |
HP:0001336 | HP:0012323 | Sleep myoclonus | 1 | ABCA7 CL E G H | 10347 | 1020 | | | | ORPHA | 1 | | 269 | 37 | 605414 |
HP:0001336 | HP:0007000 | Morning myoclonic jerks | 1 | ABCA7 CL E G H | 10347 | 1020 | | | | ORPHA | 1 | | 269 | 37 | 605414 |
HP:0001336 | HP:0031986 | Polyminimyoclonus | 1 | ABCA7 CL E G H | 10347 | 1020 | | | | ORPHA | 1 | | 269 | 37 | 605414 |
HP:0001336 | HP:0040148 | Cortical myoclonus | 1 | ABCA7 CL E G H | 10347 | 1020 | | | | ORPHA | 1 | | 269 | 37 | 605414 |
HP:0001336 | HP:0045084 | Limb myoclonus | 1 | ABCA7 CL E G H | 10347 | 1020 | | | | ORPHA | 1 | | 269 | 37 | 605414 |
HP:0001336 | HP:0010530 | Palatal myoclonus | 1 | ABCA7 CL E G H | 10347 | 1020 | | | | ORPHA | 1 | | 269 | 37 | 605414 |
HP:0001336 | HP:0012462 | Chin myoclonus | 1 | ABCA7 CL E G H | 10347 | 1020 | | | | ORPHA | 1 | | 269 | 37 | 605414 |
HP:0001336 | HP:0025097 | Eyelid myoclonus | 1 | ABCA7 CL E G H | 10347 | 1020 | | | | ORPHA | 1 | | 269 | 37 | 605414 |
HP:0001336 | HP:0010531 | Spinal myoclonus | 1 | ABCA7 CL E G H | 10347 | 1020 | | | | ORPHA | 1 | | 269 | 37 | 605414 |
HP:0001336 | HP:0012462 | Chin myoclonus | 1 | ADCY5 CL E G H | 111 | 324588 | | | | ORPHA | 1 | | 653 | 236 | 600293 |
HP:0001336 | HP:0025097 | Eyelid myoclonus | 1 | ADCY5 CL E G H | 111 | 324588 | | | | ORPHA | 1 | | 653 | 236 | 600293 |
HP:0001336 | HP:0010531 | Spinal myoclonus | 1 | ADCY5 CL E G H | 111 | 324588 | | | | ORPHA | 1 | | 653 | 236 | 600293 |
HP:0001336 | HP:0025357 | Erratic myoclonus | 1 | ADCY5 CL E G H | 111 | 324588 | | | | ORPHA | 1 | | 653 | 236 | 600293 |
HP:0001336 | HP:0003739 | Myoclonic spasms | 1 | ADCY5 CL E G H | 111 | 324588 | | | | ORPHA | 1 | | 653 | 236 | 600293 |
HP:0001336 | HP:0012323 | Sleep myoclonus | 1 | ADCY5 CL E G H | 111 | 324588 | | | | ORPHA | 1 | | 653 | 236 | 600293 |
HP:0001336 | HP:0007000 | Morning myoclonic jerks | 1 | ADCY5 CL E G H | 111 | 324588 | | | | ORPHA | 1 | | 653 | 236 | 600293 |
HP:0001336 | HP:0031986 | Polyminimyoclonus | 1 | ADCY5 CL E G H | 111 | 324588 | | | | ORPHA | 1 | | 653 | 236 | 600293 |
HP:0001336 | HP:0040148 | Cortical myoclonus | 1 | ADCY5 CL E G H | 111 | 324588 | | | | ORPHA | 1 | | 653 | 236 | 600293 |
HP:0001336 | HP:0045084 | Limb myoclonus | 1 | ADCY5 CL E G H | 111 | 324588 | | | | ORPHA | 1 | | 653 | 236 | 600293 |
HP:0001336 | HP:0010530 | Palatal myoclonus | 1 | ADCY5 CL E G H | 111 | 324588 | | | | ORPHA | 1 | | 653 | 236 | 600293 |
HP:0001336 | HP:0007000 | Morning myoclonic jerks | 1 | ADRA2B CL E G H | 151 | 86814 | | | | ORPHA | 1 | | 92 | 282 | 104260 |
HP:0001336 | HP:0031986 | Polyminimyoclonus | 1 | ADRA2B CL E G H | 151 | 86814 | | | | ORPHA | 1 | | 92 | 282 | 104260 |
HP:0001336 | HP:0040148 | Cortical myoclonus | 1 | ADRA2B CL E G H | 151 | 86814 | | | | ORPHA | 1 | | 92 | 282 | 104260 |
HP:0001336 | HP:0045084 | Limb myoclonus | 1 | ADRA2B CL E G H | 151 | 86814 | | | | ORPHA | 1 | | 92 | 282 | 104260 |
HP:0001336 | HP:0010530 | Palatal myoclonus | 1 | ADRA2B CL E G H | 151 | 86814 | | | | ORPHA | 1 | | 92 | 282 | 104260 |
HP:0001336 | HP:0025097 | Eyelid myoclonus | 1 | ADRA2B CL E G H | 151 | 86814 | | | | ORPHA | 1 | | 92 | 282 | 104260 |
HP:0001336 | HP:0010531 | Spinal myoclonus | 1 | ADRA2B CL E G H | 151 | 86814 | | | | ORPHA | 1 | | 92 | 282 | 104260 |
HP:0001336 | HP:0012462 | Chin myoclonus | 1 | ADRA2B CL E G H | 151 | 86814 | | | | ORPHA | 1 | | 92 | 282 | 104260 |
HP:0001336 | HP:0025357 | Erratic myoclonus | 1 | ADRA2B CL E G H | 151 | 86814 | | | | ORPHA | 1 | | 92 | 282 | 104260 |
HP:0001336 | HP:0003739 | Myoclonic spasms | 1 | ADRA2B CL E G H | 151 | 86814 | | | | ORPHA | 1 | | 92 | 282 | 104260 |
HP:0001336 | HP:0012323 | Sleep myoclonus | 1 | ADRA2B CL E G H | 151 | 86814 | | | | ORPHA | 1 | | 92 | 282 | 104260 |
HP:0001336 | HP:0010531 | Spinal myoclonus | 1 | ADRA2B CL E G H | 151 | 607876 | Epilepsy, familial adult myoclonic 2 | 607876 | C1842852 | OMIM | 1 | | 92 | 282 | 104260 |
HP:0001336 | HP:0012462 | Chin myoclonus | 1 | ADRA2B CL E G H | 151 | 607876 | Epilepsy, familial adult myoclonic 2 | 607876 | C1842852 | OMIM | 1 | | 92 | 282 | 104260 |
HP:0001336 | HP:0025097 | Eyelid myoclonus | 1 | ADRA2B CL E G H | 151 | 607876 | Epilepsy, familial adult myoclonic 2 | 607876 | C1842852 | OMIM | 1 | | 92 | 282 | 104260 |
HP:0001336 | HP:0012323 | Sleep myoclonus | 1 | ADRA2B CL E G H | 151 | 607876 | Epilepsy, familial adult myoclonic 2 | 607876 | C1842852 | OMIM | 1 | | 92 | 282 | 104260 |
HP:0001336 | HP:0025357 | Erratic myoclonus | 1 | ADRA2B CL E G H | 151 | 607876 | Epilepsy, familial adult myoclonic 2 | 607876 | C1842852 | OMIM | 1 | | 92 | 282 | 104260 |
HP:0001336 | HP:0003739 | Myoclonic spasms | 1 | ADRA2B CL E G H | 151 | 607876 | Epilepsy, familial adult myoclonic 2 | 607876 | C1842852 | OMIM | 1 | | 92 | 282 | 104260 |
HP:0001336 | HP:0031986 | Polyminimyoclonus | 1 | ADRA2B CL E G H | 151 | 607876 | Epilepsy, familial adult myoclonic 2 | 607876 | C1842852 | OMIM | 1 | | 92 | 282 | 104260 |
HP:0001336 | HP:0007000 | Morning myoclonic jerks | 1 | ADRA2B CL E G H | 151 | 607876 | Epilepsy, familial adult myoclonic 2 | 607876 | C1842852 | OMIM | 1 | | 92 | 282 | 104260 |
HP:0001336 | HP:0010530 | Palatal myoclonus | 1 | ADRA2B CL E G H | 151 | 607876 | Epilepsy, familial adult myoclonic 2 | 607876 | C1842852 | OMIM | 1 | | 92 | 282 | 104260 |
HP:0001336 | HP:0040148 | Cortical myoclonus | 1 | ADRA2B CL E G H | 151 | 607876 | Epilepsy, familial adult myoclonic 2 | 607876 | C1842852 | OMIM | 1 | | 92 | 282 | 104260 |
HP:0001336 | HP:0045084 | Limb myoclonus | 1 | ADRA2B CL E G H | 151 | 607876 | Epilepsy, familial adult myoclonic 2 | 607876 | C1842852 | OMIM | 1 | | 92 | 282 | 104260 |
HP:0001336 | HP:0010531 | Spinal myoclonus | 1 | ADSL CL E G H | 158 | 103050 | Adenylosuccinate lyase deficiency | 103050 | C0268126 | OMIM | 1 | | 808 | 291 | 608222 |
HP:0001336 | HP:0012462 | Chin myoclonus | 1 | ADSL CL E G H | 158 | 103050 | Adenylosuccinate lyase deficiency | 103050 | C0268126 | OMIM | 1 | | 808 | 291 | 608222 |
HP:0001336 | HP:0025097 | Eyelid myoclonus | 1 | ADSL CL E G H | 158 | 103050 | Adenylosuccinate lyase deficiency | 103050 | C0268126 | OMIM | 1 | | 808 | 291 | 608222 |
HP:0001336 | HP:0003739 | Myoclonic spasms | 1 | ADSL CL E G H | 158 | 103050 | Adenylosuccinate lyase deficiency | 103050 | C0268126 | OMIM | 1 | | 808 | 291 | 608222 |
HP:0001336 | HP:0012323 | Sleep myoclonus | 1 | ADSL CL E G H | 158 | 103050 | Adenylosuccinate lyase deficiency | 103050 | C0268126 | OMIM | 1 | | 808 | 291 | 608222 |
HP:0001336 | HP:0025357 | Erratic myoclonus | 1 | ADSL CL E G H | 158 | 103050 | Adenylosuccinate lyase deficiency | 103050 | C0268126 | OMIM | 1 | | 808 | 291 | 608222 |
HP:0001336 | HP:0007000 | Morning myoclonic jerks | 1 | ADSL CL E G H | 158 | 103050 | Adenylosuccinate lyase deficiency | 103050 | C0268126 | OMIM | 1 | | 808 | 291 | 608222 |
HP:0001336 | HP:0031986 | Polyminimyoclonus | 1 | ADSL CL E G H | 158 | 103050 | Adenylosuccinate lyase deficiency | 103050 | C0268126 | OMIM | 1 | | 808 | 291 | 608222 |
HP:0001336 | HP:0010530 | Palatal myoclonus | 1 | ADSL CL E G H | 158 | 103050 | Adenylosuccinate lyase deficiency | 103050 | C0268126 | OMIM | 1 | | 808 | 291 | 608222 |
HP:0001336 | HP:0040148 | Cortical myoclonus | 1 | ADSL CL E G H | 158 | 103050 | Adenylosuccinate lyase deficiency | 103050 | C0268126 | OMIM | 1 | | 808 | 291 | 608222 |
HP:0001336 | HP:0045084 | Limb myoclonus | 1 | ADSL CL E G H | 158 | 103050 | Adenylosuccinate lyase deficiency | 103050 | C0268126 | OMIM | 1 | | 808 | 291 | 608222 |
HP:0001336 | HP:0007000 | Morning myoclonic jerks | 1 | AFG3L2 CL E G H | 10939 | 313772 | | | | ORPHA | 1 | | 480 | 315 | 604581 |
HP:0001336 | HP:0031986 | Polyminimyoclonus | 1 | AFG3L2 CL E G H | 10939 | 313772 | | | | ORPHA | 1 | | 480 | 315 | 604581 |
HP:0001336 | HP:0040148 | Cortical myoclonus | 1 | AFG3L2 CL E G H | 10939 | 313772 | | | | ORPHA | 1 | | 480 | 315 | 604581 |
HP:0001336 | HP:0045084 | Limb myoclonus | 1 | AFG3L2 CL E G H | 10939 | 313772 | | | | ORPHA | 1 | | 480 | 315 | 604581 |
HP:0001336 | HP:0010530 | Palatal myoclonus | 1 | AFG3L2 CL E G H | 10939 | 313772 | | | | ORPHA | 1 | | 480 | 315 | 604581 |
HP:0001336 | HP:0012462 | Chin myoclonus | 1 | AFG3L2 CL E G H | 10939 | 313772 | | | | ORPHA | 1 | | 480 | 315 | 604581 |
HP:0001336 | HP:0025097 | Eyelid myoclonus | 1 | AFG3L2 CL E G H | 10939 | 313772 | | | | ORPHA | 1 | | 480 | 315 | 604581 |
HP:0001336 | HP:0010531 | Spinal myoclonus | 1 | AFG3L2 CL E G H | 10939 | 313772 | | | | ORPHA | 1 | | 480 | 315 | 604581 |
HP:0001336 | HP:0025357 | Erratic myoclonus | 1 | AFG3L2 CL E G H | 10939 | 313772 | | | | ORPHA | 1 | | 480 | 315 | 604581 |
HP:0001336 | HP:0003739 | Myoclonic spasms | 1 | AFG3L2 CL E G H | 10939 | 313772 | | | | ORPHA | 1 | | 480 | 315 | 604581 |
HP:0001336 | HP:0012323 | Sleep myoclonus | 1 | AFG3L2 CL E G H | 10939 | 313772 | | | | ORPHA | 1 | | 480 | 315 | 604581 |
HP:0001336 | HP:0031986 | Polyminimyoclonus | 1 | AFG3L2 CL E G H | 10939 | 614487 | Spastic ataxia 5, autosomal recessive | 614487 | C3280977 | OMIM | 1 | | 480 | 315 | 604581 |
HP:0001336 | HP:0007000 | Morning myoclonic jerks | 1 | AFG3L2 CL E G H | 10939 | 614487 | Spastic ataxia 5, autosomal recessive | 614487 | C3280977 | OMIM | 1 | | 480 | 315 | 604581 |
HP:0001336 | HP:0040148 | Cortical myoclonus | 1 | AFG3L2 CL E G H | 10939 | 614487 | Spastic ataxia 5, autosomal recessive | 614487 | C3280977 | OMIM | 1 | | 480 | 315 | 604581 |
HP:0001336 | HP:0045084 | Limb myoclonus | 1 | AFG3L2 CL E G H | 10939 | 614487 | Spastic ataxia 5, autosomal recessive | 614487 | C3280977 | OMIM | 1 | | 480 | 315 | 604581 |
HP:0001336 | HP:0010530 | Palatal myoclonus | 1 | AFG3L2 CL E G H | 10939 | 614487 | Spastic ataxia 5, autosomal recessive | 614487 | C3280977 | OMIM | 1 | | 480 | 315 | 604581 |
HP:0001336 | HP:0010531 | Spinal myoclonus | 1 | AFG3L2 CL E G H | 10939 | 614487 | Spastic ataxia 5, autosomal recessive | 614487 | C3280977 | OMIM | 1 | | 480 | 315 | 604581 |
HP:0001336 | HP:0012462 | Chin myoclonus | 1 | AFG3L2 CL E G H | 10939 | 614487 | Spastic ataxia 5, autosomal recessive | 614487 | C3280977 | OMIM | 1 | | 480 | 315 | 604581 |
HP:0001336 | HP:0025097 | Eyelid myoclonus | 1 | AFG3L2 CL E G H | 10939 | 614487 | Spastic ataxia 5, autosomal recessive | 614487 | C3280977 | OMIM | 1 | | 480 | 315 | 604581 |
HP:0001336 | HP:0012323 | Sleep myoclonus | 1 | AFG3L2 CL E G H | 10939 | 614487 | Spastic ataxia 5, autosomal recessive | 614487 | C3280977 | OMIM | 1 | | 480 | 315 | 604581 |
HP:0001336 | HP:0025357 | Erratic myoclonus | 1 | AFG3L2 CL E G H | 10939 | 614487 | Spastic ataxia 5, autosomal recessive | 614487 | C3280977 | OMIM | 1 | | 480 | 315 | 604581 |
HP:0001336 | HP:0003739 | Myoclonic spasms | 1 | AFG3L2 CL E G H | 10939 | 614487 | Spastic ataxia 5, autosomal recessive | 614487 | C3280977 | OMIM | 1 | | 480 | 315 | 604581 |
HP:0001336 | HP:0007000 | Morning myoclonic jerks | 1 | AMT CL E G H | 275 | 605899 | Non-ketotic hyperglycinemia | 605899 | C0751748 | OMIM | 1 | | 591 | 473 | 238310 |
HP:0001336 | HP:0031986 | Polyminimyoclonus | 1 | AMT CL E G H | 275 | 605899 | Non-ketotic hyperglycinemia | 605899 | C0751748 | OMIM | 1 | | 591 | 473 | 238310 |
HP:0001336 | HP:0040148 | Cortical myoclonus | 1 | AMT CL E G H | 275 | 605899 | Non-ketotic hyperglycinemia | 605899 | C0751748 | OMIM | 1 | | 591 | 473 | 238310 |
HP:0001336 | HP:0045084 | Limb myoclonus | 1 | AMT CL E G H | 275 | 605899 | Non-ketotic hyperglycinemia | 605899 | C0751748 | OMIM | 1 | | 591 | 473 | 238310 |
HP:0001336 | HP:0010530 | Palatal myoclonus | 1 | AMT CL E G H | 275 | 605899 | Non-ketotic hyperglycinemia | 605899 | C0751748 | OMIM | 1 | | 591 | 473 | 238310 |
HP:0001336 | HP:0012462 | Chin myoclonus | 1 | AMT CL E G H | 275 | 605899 | Non-ketotic hyperglycinemia | 605899 | C0751748 | OMIM | 1 | | 591 | 473 | 238310 |
HP:0001336 | HP:0025097 | Eyelid myoclonus | 1 | AMT CL E G H | 275 | 605899 | Non-ketotic hyperglycinemia | 605899 | C0751748 | OMIM | 1 | | 591 | 473 | 238310 |
HP:0001336 | HP:0010531 | Spinal myoclonus | 1 | AMT CL E G H | 275 | 605899 | Non-ketotic hyperglycinemia | 605899 | C0751748 | OMIM | 1 | | 591 | 473 | 238310 |
HP:0001336 | HP:0025357 | Erratic myoclonus | 1 | AMT CL E G H | 275 | 605899 | Non-ketotic hyperglycinemia | 605899 | C0751748 | OMIM | 1 | | 591 | 473 | 238310 |
HP:0001336 | HP:0003739 | Myoclonic spasms | 1 | AMT CL E G H | 275 | 605899 | Non-ketotic hyperglycinemia | 605899 | C0751748 | OMIM | 1 | | 591 | 473 | 238310 |
HP:0001336 | HP:0012323 | Sleep myoclonus | 1 | AMT CL E G H | 275 | 605899 | Non-ketotic hyperglycinemia | 605899 | C0751748 | OMIM | 1 | | 591 | 473 | 238310 |
HP:0001336 | HP:0031986 | Polyminimyoclonus | 1 | AP5Z1 CL E G H | 9907 | 306511 | | | | ORPHA | 1 | | 1021 | 22197 | 613653 |
HP:0001336 | HP:0007000 | Morning myoclonic jerks | 1 | AP5Z1 CL E G H | 9907 | 306511 | | | | ORPHA | 1 | | 1021 | 22197 | 613653 |
HP:0001336 | HP:0010530 | Palatal myoclonus | 1 | AP5Z1 CL E G H | 9907 | 306511 | | | | ORPHA | 1 | | 1021 | 22197 | 613653 |
HP:0001336 | HP:0040148 | Cortical myoclonus | 1 | AP5Z1 CL E G H | 9907 | 306511 | | | | ORPHA | 1 | | 1021 | 22197 | 613653 |
HP:0001336 | HP:0045084 | Limb myoclonus | 1 | AP5Z1 CL E G H | 9907 | 306511 | | | | ORPHA | 1 | | 1021 | 22197 | 613653 |
HP:0001336 | HP:0010531 | Spinal myoclonus | 1 | AP5Z1 CL E G H | 9907 | 306511 | | | | ORPHA | 1 | | 1021 | 22197 | 613653 |
HP:0001336 | HP:0012462 | Chin myoclonus | 1 | AP5Z1 CL E G H | 9907 | 306511 | | | | ORPHA | 1 | | 1021 | 22197 | 613653 |
HP:0001336 | HP:0025097 | Eyelid myoclonus | 1 | AP5Z1 CL E G H | 9907 | 306511 | | | | ORPHA | 1 | | 1021 | 22197 | 613653 |
HP:0001336 | HP:0012323 | Sleep myoclonus | 1 | AP5Z1 CL E G H | 9907 | 306511 | | | | ORPHA | 1 | | 1021 | 22197 | 613653 |
HP:0001336 | HP:0025357 | Erratic myoclonus | 1 | AP5Z1 CL E G H | 9907 | 306511 | | | | ORPHA | 1 | | 1021 | 22197 | 613653 |
HP:0001336 | HP:0003739 | Myoclonic spasms | 1 | AP5Z1 CL E G H | 9907 | 306511 | | | | ORPHA | 1 | | 1021 | 22197 | 613653 |
HP:0001336 | HP:0045084 | Limb myoclonus | 1 | APP CL E G H | 351 | 1020 | | | | ORPHA | 1 | | 506 | 620 | 104760 |
HP:0001336 | HP:0010530 | Palatal myoclonus | 1 | APP CL E G H | 351 | 1020 | | | | ORPHA | 1 | | 506 | 620 | 104760 |
HP:0001336 | HP:0040148 | Cortical myoclonus | 1 | APP CL E G H | 351 | 1020 | | | | ORPHA | 1 | | 506 | 620 | 104760 |
HP:0001336 | HP:0007000 | Morning myoclonic jerks | 1 | APP CL E G H | 351 | 324708 | | | | ORPHA | 1 | | 506 | 620 | 104760 |
HP:0001336 | HP:0031986 | Polyminimyoclonus | 1 | APP CL E G H | 351 | 324708 | | | | ORPHA | 1 | | 506 | 620 | 104760 |
HP:0001336 | HP:0025097 | Eyelid myoclonus | 1 | APP CL E G H | 351 | 1020 | | | | ORPHA | 1 | | 506 | 620 | 104760 |
HP:0001336 | HP:0010531 | Spinal myoclonus | 1 | APP CL E G H | 351 | 1020 | | | | ORPHA | 1 | | 506 | 620 | 104760 |
HP:0001336 | HP:0012462 | Chin myoclonus | 1 | APP CL E G H | 351 | 1020 | | | | ORPHA | 1 | | 506 | 620 | 104760 |
HP:0001336 | HP:0040148 | Cortical myoclonus | 1 | APP CL E G H | 351 | 324708 | | | | ORPHA | 1 | | 506 | 620 | 104760 |
HP:0001336 | HP:0045084 | Limb myoclonus | 1 | APP CL E G H | 351 | 324708 | | | | ORPHA | 1 | | 506 | 620 | 104760 |
HP:0001336 | HP:0010530 | Palatal myoclonus | 1 | APP CL E G H | 351 | 324708 | | | | ORPHA | 1 | | 506 | 620 | 104760 |
HP:0001336 | HP:0025357 | Erratic myoclonus | 1 | APP CL E G H | 351 | 1020 | | | | ORPHA | 1 | | 506 | 620 | 104760 |
HP:0001336 | HP:0003739 | Myoclonic spasms | 1 | APP CL E G H | 351 | 1020 | | | | ORPHA | 1 | | 506 | 620 | 104760 |
HP:0001336 | HP:0012323 | Sleep myoclonus | 1 | APP CL E G H | 351 | 1020 | | | | ORPHA | 1 | | 506 | 620 | 104760 |
HP:0001336 | HP:0012462 | Chin myoclonus | 1 | APP CL E G H | 351 | 324708 | | | | ORPHA | 1 | | 506 | 620 | 104760 |
HP:0001336 | HP:0025097 | Eyelid myoclonus | 1 | APP CL E G H | 351 | 324708 | | | | ORPHA | 1 | | 506 | 620 | 104760 |
HP:0001336 | HP:0010531 | Spinal myoclonus | 1 | APP CL E G H | 351 | 324708 | | | | ORPHA | 1 | | 506 | 620 | 104760 |
HP:0001336 | HP:0007000 | Morning myoclonic jerks | 1 | APP CL E G H | 351 | 1020 | | | | ORPHA | 1 | | 506 | 620 | 104760 |
HP:0001336 | HP:0031986 | Polyminimyoclonus | 1 | APP CL E G H | 351 | 1020 | | | | ORPHA | 1 | | 506 | 620 | 104760 |
HP:0001336 | HP:0025357 | Erratic myoclonus | 1 | APP CL E G H | 351 | 324708 | | | | ORPHA | 1 | | 506 | 620 | 104760 |
HP:0001336 | HP:0003739 | Myoclonic spasms | 1 | APP CL E G H | 351 | 324708 | | | | ORPHA | 1 | | 506 | 620 | 104760 |
HP:0001336 | HP:0012323 | Sleep myoclonus | 1 | APP CL E G H | 351 | 324708 | | | | ORPHA | 1 | | 506 | 620 | 104760 |
HP:0001336 | HP:0007000 | Morning myoclonic jerks | 1 | ARX CL E G H | 170302 | 3451 | Meier Blumberg Imahorn syndrome | | | ORPHA | 1 | | 810 | 18060 | 300382 |
HP:0001336 | HP:0031986 | Polyminimyoclonus | 1 | ARX CL E G H | 170302 | 3451 | Meier Blumberg Imahorn syndrome | | | ORPHA | 1 | | 810 | 18060 | 300382 |
HP:0001336 | HP:0040148 | Cortical myoclonus | 1 | ARX CL E G H | 170302 | 3451 | Meier Blumberg Imahorn syndrome | | | ORPHA | 1 | | 810 | 18060 | 300382 |
HP:0001336 | HP:0045084 | Limb myoclonus | 1 | ARX CL E G H | 170302 | 3451 | Meier Blumberg Imahorn syndrome | | | ORPHA | 1 | | 810 | 18060 | 300382 |
HP:0001336 | HP:0010530 | Palatal myoclonus | 1 | ARX CL E G H | 170302 | 3451 | Meier Blumberg Imahorn syndrome | | | ORPHA | 1 | | 810 | 18060 | 300382 |
HP:0001336 | HP:0010531 | Spinal myoclonus | 1 | ARX CL E G H | 170302 | 3451 | Meier Blumberg Imahorn syndrome | | | ORPHA | 1 | | 810 | 18060 | 300382 |
HP:0001336 | HP:0012462 | Chin myoclonus | 1 | ARX CL E G H | 170302 | 3451 | Meier Blumberg Imahorn syndrome | | | ORPHA | 1 | | 810 | 18060 | 300382 |
HP:0001336 | HP:0025097 | Eyelid myoclonus | 1 | ARX CL E G H | 170302 | 3451 | Meier Blumberg Imahorn syndrome | | | ORPHA | 1 | | 810 | 18060 | 300382 |
HP:0001336 | HP:0012323 | Sleep myoclonus | 1 | ARX CL E G H | 170302 | 3451 | Meier Blumberg Imahorn syndrome | | | ORPHA | 1 | | 810 | 18060 | 300382 |
HP:0001336 | HP:0025357 | Erratic myoclonus | 1 | ARX CL E G H | 170302 | 3451 | Meier Blumberg Imahorn syndrome | | | ORPHA | 1 | | 810 | 18060 | 300382 |
HP:0001336 | HP:0003739 | Myoclonic spasms | 1 | ARX CL E G H | 170302 | 3451 | Meier Blumberg Imahorn syndrome | | | ORPHA | 1 | | 810 | 18060 | 300382 |
HP:0001336 | HP:0007000 | Morning myoclonic jerks | 1 | ASAH1 CL E G H | 427 | 159950 | Jankovic Rivera syndrome | 159950 | C1834569 | OMIM | 1 | | 913 | 735 | 613468 |
HP:0001336 | HP:0031986 | Polyminimyoclonus | 1 | ASAH1 CL E G H | 427 | 159950 | Jankovic Rivera syndrome | 159950 | C1834569 | OMIM | 1 | | 913 | 735 | 613468 |
HP:0001336 | HP:0040148 | Cortical myoclonus | 1 | ASAH1 CL E G H | 427 | 159950 | Jankovic Rivera syndrome | 159950 | C1834569 | OMIM | 1 | | 913 | 735 | 613468 |
HP:0001336 | HP:0045084 | Limb myoclonus | 1 | ASAH1 CL E G H | 427 | 159950 | Jankovic Rivera syndrome | 159950 | C1834569 | OMIM | 1 | | 913 | 735 | 613468 |
HP:0001336 | HP:0010530 | Palatal myoclonus | 1 | ASAH1 CL E G H | 427 | 159950 | Jankovic Rivera syndrome | 159950 | C1834569 | OMIM | 1 | | 913 | 735 | 613468 |
HP:0001336 | HP:0025097 | Eyelid myoclonus | 1 | ASAH1 CL E G H | 427 | 159950 | Jankovic Rivera syndrome | 159950 | C1834569 | OMIM | 1 | | 913 | 735 | 613468 |
HP:0001336 | HP:0010531 | Spinal myoclonus | 1 | ASAH1 CL E G H | 427 | 159950 | Jankovic Rivera syndrome | 159950 | C1834569 | OMIM | 1 | | 913 | 735 | 613468 |
HP:0001336 | HP:0012462 | Chin myoclonus | 1 | ASAH1 CL E G H | 427 | 159950 | Jankovic Rivera syndrome | 159950 | C1834569 | OMIM | 1 | | 913 | 735 | 613468 |
HP:0001336 | HP:0025357 | Erratic myoclonus | 1 | ASAH1 CL E G H | 427 | 159950 | Jankovic Rivera syndrome | 159950 | C1834569 | OMIM | 1 | | 913 | 735 | 613468 |
HP:0001336 | HP:0003739 | Myoclonic spasms | 1 | ASAH1 CL E G H | 427 | 159950 | Jankovic Rivera syndrome | 159950 | C1834569 | OMIM | 1 | | 913 | 735 | 613468 |
HP:0001336 | HP:0012323 | Sleep myoclonus | 1 | ASAH1 CL E G H | 427 | 159950 | Jankovic Rivera syndrome | 159950 | C1834569 | OMIM | 1 | | 913 | 735 | 613468 |
HP:0001336 | HP:0025357 | Erratic myoclonus | 1 | ATAD1 CL E G H | 84896 | 618011 | HYPEREKPLEXIA 4 | 618011 | CN248518 | OMIM | 1 | | 183 | 25903 | 614452 |
HP:0001336 | HP:0003739 | Myoclonic spasms | 1 | ATAD1 CL E G H | 84896 | 618011 | HYPEREKPLEXIA 4 | 618011 | CN248518 | OMIM | 1 | | 183 | 25903 | 614452 |
HP:0001336 | HP:0012323 | Sleep myoclonus | 1 | ATAD1 CL E G H | 84896 | 618011 | HYPEREKPLEXIA 4 | 618011 | CN248518 | OMIM | 1 | | 183 | 25903 | 614452 |
HP:0001336 | HP:0007000 | Morning myoclonic jerks | 1 | ATAD1 CL E G H | 84896 | 618011 | HYPEREKPLEXIA 4 | 618011 | CN248518 | OMIM | 1 | | 183 | 25903 | 614452 |
HP:0001336 | HP:0031986 | Polyminimyoclonus | 1 | ATAD1 CL E G H | 84896 | 618011 | HYPEREKPLEXIA 4 | 618011 | CN248518 | OMIM | 1 | | 183 | 25903 | 614452 |
HP:0001336 | HP:0040148 | Cortical myoclonus | 1 | ATAD1 CL E G H | 84896 | 618011 | HYPEREKPLEXIA 4 | 618011 | CN248518 | OMIM | 1 | | 183 | 25903 | 614452 |
HP:0001336 | HP:0045084 | Limb myoclonus | 1 | ATAD1 CL E G H | 84896 | 618011 | HYPEREKPLEXIA 4 | 618011 | CN248518 | OMIM | 1 | | 183 | 25903 | 614452 |
HP:0001336 | HP:0010530 | Palatal myoclonus | 1 | ATAD1 CL E G H | 84896 | 618011 | HYPEREKPLEXIA 4 | 618011 | CN248518 | OMIM | 1 | | 183 | 25903 | 614452 |
HP:0001336 | HP:0012462 | Chin myoclonus | 1 | ATAD1 CL E G H | 84896 | 618011 | HYPEREKPLEXIA 4 | 618011 | CN248518 | OMIM | 1 | | 183 | 25903 | 614452 |
HP:0001336 | HP:0025097 | Eyelid myoclonus | 1 | ATAD1 CL E G H | 84896 | 618011 | HYPEREKPLEXIA 4 | 618011 | CN248518 | OMIM | 1 | | 183 | 25903 | 614452 |
HP:0001336 | HP:0010531 | Spinal myoclonus | 1 | ATAD1 CL E G H | 84896 | 618011 | HYPEREKPLEXIA 4 | 618011 | CN248518 | OMIM | 1 | | 183 | 25903 | 614452 |
HP:0001336 | HP:0010531 | Spinal myoclonus | 1 | ATAD1 CL E G H | 84896 | 3197 | Lateral body wall defect | | | ORPHA | 1 | | 183 | 25903 | 614452 |
HP:0001336 | HP:0012462 | Chin myoclonus | 1 | ATAD1 CL E G H | 84896 | 3197 | Lateral body wall defect | | | ORPHA | 1 | | 183 | 25903 | 614452 |
HP:0001336 | HP:0025097 | Eyelid myoclonus | 1 | ATAD1 CL E G H | 84896 | 3197 | Lateral body wall defect | | | ORPHA | 1 | | 183 | 25903 | 614452 |
HP:0001336 | HP:0003739 | Myoclonic spasms | 1 | ATAD1 CL E G H | 84896 | 3197 | Lateral body wall defect | | | ORPHA | 1 | | 183 | 25903 | 614452 |
HP:0001336 | HP:0012323 | Sleep myoclonus | 1 | ATAD1 CL E G H | 84896 | 3197 | Lateral body wall defect | | | ORPHA | 1 | | 183 | 25903 | 614452 |
HP:0001336 | HP:0025357 | Erratic myoclonus | 1 | ATAD1 CL E G H | 84896 | 3197 | Lateral body wall defect | | | ORPHA | 1 | | 183 | 25903 | 614452 |
HP:0001336 | HP:0031986 | Polyminimyoclonus | 1 | ATAD1 CL E G H | 84896 | 3197 | Lateral body wall defect | | | ORPHA | 1 | | 183 | 25903 | 614452 |
HP:0001336 | HP:0007000 | Morning myoclonic jerks | 1 | ATAD1 CL E G H | 84896 | 3197 | Lateral body wall defect | | | ORPHA | 1 | | 183 | 25903 | 614452 |
HP:0001336 | HP:0010530 | Palatal myoclonus | 1 | ATAD1 CL E G H | 84896 | 3197 | Lateral body wall defect | | | ORPHA | 1 | | 183 | 25903 | 614452 |
HP:0001336 | HP:0040148 | Cortical myoclonus | 1 | ATAD1 CL E G H | 84896 | 3197 | Lateral body wall defect | | | ORPHA | 1 | | 183 | 25903 | 614452 |
HP:0001336 | HP:0045084 | Limb myoclonus | 1 | ATAD1 CL E G H | 84896 | 3197 | Lateral body wall defect | | | ORPHA | 1 | | 183 | 25903 | 614452 |
HP:0001336 | HP:0007000 | Morning myoclonic jerks | 1 | ATM CL E G H | 472 | 208900 | Ataxia-telangiectasia syndrome | 208900 | C0004135 | OMIM | 1 | | 14692 | 795 | 607585 |
HP:0001336 | HP:0031986 | Polyminimyoclonus | 1 | ATM CL E G H | 472 | 208900 | Ataxia-telangiectasia syndrome | 208900 | C0004135 | OMIM | 1 | | 14692 | 795 | 607585 |
HP:0001336 | HP:0040148 | Cortical myoclonus | 1 | ATM CL E G H | 472 | 208900 | Ataxia-telangiectasia syndrome | 208900 | C0004135 | OMIM | 1 | | 14692 | 795 | 607585 |
HP:0001336 | HP:0045084 | Limb myoclonus | 1 | ATM CL E G H | 472 | 208900 | Ataxia-telangiectasia syndrome | 208900 | C0004135 | OMIM | 1 | | 14692 | 795 | 607585 |
HP:0001336 | HP:0010530 | Palatal myoclonus | 1 | ATM CL E G H | 472 | 208900 | Ataxia-telangiectasia syndrome | 208900 | C0004135 | OMIM | 1 | | 14692 | 795 | 607585 |
HP:0001336 | HP:0025097 | Eyelid myoclonus | 1 | ATM CL E G H | 472 | 208900 | Ataxia-telangiectasia syndrome | 208900 | C0004135 | OMIM | 1 | | 14692 | 795 | 607585 |
HP:0001336 | HP:0010531 | Spinal myoclonus | 1 | ATM CL E G H | 472 | 208900 | Ataxia-telangiectasia syndrome | 208900 | C0004135 | OMIM | 1 | | 14692 | 795 | 607585 |
HP:0001336 | HP:0012462 | Chin myoclonus | 1 | ATM CL E G H | 472 | 208900 | Ataxia-telangiectasia syndrome | 208900 | C0004135 | OMIM | 1 | | 14692 | 795 | 607585 |
HP:0001336 | HP:0025357 | Erratic myoclonus | 1 | ATM CL E G H | 472 | 208900 | Ataxia-telangiectasia syndrome | 208900 | C0004135 | OMIM | 1 | | 14692 | 795 | 607585 |
HP:0001336 | HP:0003739 | Myoclonic spasms | 1 | ATM CL E G H | 472 | 208900 | Ataxia-telangiectasia syndrome | 208900 | C0004135 | OMIM | 1 | | 14692 | 795 | 607585 |
HP:0001336 | HP:0012323 | Sleep myoclonus | 1 | ATM CL E G H | 472 | 208900 | Ataxia-telangiectasia syndrome | 208900 | C0004135 | OMIM | 1 | | 14692 | 795 | 607585 |
HP:0001336 | HP:0040148 | Cortical myoclonus | 1 | ATN1 CL E G H | 1822 | 101 | | | | ORPHA | 1 | | 213 | 3033 | 607462 |
HP:0001336 | HP:0045084 | Limb myoclonus | 1 | ATN1 CL E G H | 1822 | 101 | | | | ORPHA | 1 | | 213 | 3033 | 607462 |
HP:0001336 | HP:0010530 | Palatal myoclonus | 1 | ATN1 CL E G H | 1822 | 101 | | | | ORPHA | 1 | | 213 | 3033 | 607462 |
HP:0001336 | HP:0012462 | Chin myoclonus | 1 | ATN1 CL E G H | 1822 | 101 | | | | ORPHA | 1 | | 213 | 3033 | 607462 |
HP:0001336 | HP:0025097 | Eyelid myoclonus | 1 | ATN1 CL E G H | 1822 | 101 | | | | ORPHA | 1 | | 213 | 3033 | 607462 |
HP:0001336 | HP:0010531 | Spinal myoclonus | 1 | ATN1 CL E G H | 1822 | 101 | | | | ORPHA | 1 | | 213 | 3033 | 607462 |
HP:0001336 | HP:0025357 | Erratic myoclonus | 1 | ATN1 CL E G H | 1822 | 101 | | | | ORPHA | 1 | | 213 | 3033 | 607462 |
HP:0001336 | HP:0003739 | Myoclonic spasms | 1 | ATN1 CL E G H | 1822 | 101 | | | | ORPHA | 1 | | 213 | 3033 | 607462 |
HP:0001336 | HP:0012323 | Sleep myoclonus | 1 | ATN1 CL E G H | 1822 | 101 | | | | ORPHA | 1 | | 213 | 3033 | 607462 |
HP:0001336 | HP:0007000 | Morning myoclonic jerks | 1 | ATN1 CL E G H | 1822 | 101 | | | | ORPHA | 1 | | 213 | 3033 | 607462 |
HP:0001336 | HP:0031986 | Polyminimyoclonus | 1 | ATN1 CL E G H | 1822 | 101 | | | | ORPHA | 1 | | 213 | 3033 | 607462 |
HP:0001336 | HP:0012462 | Chin myoclonus | 1 | ATP13A2 CL E G H | 23400 | 306674 | | | | ORPHA | 1 | | 974 | 30213 | 610513 |
HP:0001336 | HP:0010531 | Spinal myoclonus | 1 | ATP13A2 CL E G H | 23400 | 314632 | | | | ORPHA | 1 | | 974 | 30213 | 610513 |
HP:0001336 | HP:0025097 | Eyelid myoclonus | 1 | ATP13A2 CL E G H | 23400 | 306674 | | | | ORPHA | 1 | | 974 | 30213 | 610513 |
HP:0001336 | HP:0012462 | Chin myoclonus | 1 | ATP13A2 CL E G H | 23400 | 314632 | | | | ORPHA | 1 | | 974 | 30213 | 610513 |
HP:0001336 | HP:0010531 | Spinal myoclonus | 1 | ATP13A2 CL E G H | 23400 | 306674 | | | | ORPHA | 1 | | 974 | 30213 | 610513 |
HP:0001336 | HP:0025097 | Eyelid myoclonus | 1 | ATP13A2 CL E G H | 23400 | 314632 | | | | ORPHA | 1 | | 974 | 30213 | 610513 |
HP:0001336 | HP:0003739 | Myoclonic spasms | 1 | ATP13A2 CL E G H | 23400 | 314632 | | | | ORPHA | 1 | | 974 | 30213 | 610513 |
HP:0001336 | HP:0012323 | Sleep myoclonus | 1 | ATP13A2 CL E G H | 23400 | 314632 | | | | ORPHA | 1 | | 974 | 30213 | 610513 |
HP:0001336 | HP:0025357 | Erratic myoclonus | 1 | ATP13A2 CL E G H | 23400 | 306674 | | | | ORPHA | 1 | | 974 | 30213 | 610513 |
HP:0001336 | HP:0003739 | Myoclonic spasms | 1 | ATP13A2 CL E G H | 23400 | 306674 | | | | ORPHA | 1 | | 974 | 30213 | 610513 |
HP:0001336 | HP:0012323 | Sleep myoclonus | 1 | ATP13A2 CL E G H | 23400 | 306674 | | | | ORPHA | 1 | | 974 | 30213 | 610513 |
HP:0001336 | HP:0025357 | Erratic myoclonus | 1 | ATP13A2 CL E G H | 23400 | 314632 | | | | ORPHA | 1 | | 974 | 30213 | 610513 |
HP:0001336 | HP:0007000 | Morning myoclonic jerks | 1 | ATP13A2 CL E G H | 23400 | 314632 | | | | ORPHA | 1 | | 974 | 30213 | 610513 |
HP:0001336 | HP:0031986 | Polyminimyoclonus | 1 | ATP13A2 CL E G H | 23400 | 314632 | | | | ORPHA | 1 | | 974 | 30213 | 610513 |
HP:0001336 | HP:0007000 | Morning myoclonic jerks | 1 | ATP13A2 CL E G H | 23400 | 306674 | | | | ORPHA | 1 | | 974 | 30213 | 610513 |
HP:0001336 | HP:0031986 | Polyminimyoclonus | 1 | ATP13A2 CL E G H | 23400 | 306674 | | | | ORPHA | 1 | | 974 | 30213 | 610513 |
HP:0001336 | HP:0045084 | Limb myoclonus | 1 | ATP13A2 CL E G H | 23400 | 314632 | | | | ORPHA | 1 | | 974 | 30213 | 610513 |
HP:0001336 | HP:0010530 | Palatal myoclonus | 1 | ATP13A2 CL E G H | 23400 | 314632 | | | | ORPHA | 1 | | 974 | 30213 | 610513 |
HP:0001336 | HP:0040148 | Cortical myoclonus | 1 | ATP13A2 CL E G H | 23400 | 306674 | | | | ORPHA | 1 | | 974 | 30213 | 610513 |
HP:0001336 | HP:0045084 | Limb myoclonus | 1 | ATP13A2 CL E G H | 23400 | 306674 | | | | ORPHA | 1 | | 974 | 30213 | 610513 |
HP:0001336 | HP:0010530 | Palatal myoclonus | 1 | ATP13A2 CL E G H | 23400 | 306674 | | | | ORPHA | 1 | | 974 | 30213 | 610513 |
HP:0001336 | HP:0040148 | Cortical myoclonus | 1 | ATP13A2 CL E G H | 23400 | 314632 | | | | ORPHA | 1 | | 974 | 30213 | 610513 |
HP:0001336 | HP:0010531 | Spinal myoclonus | 1 | ATP13A2 CL E G H | 23400 | 606693 | Parkinson disease 9 | 606693 | C1847640 | OMIM | 1 | | 974 | 30213 | 610513 |
HP:0001336 | HP:0012462 | Chin myoclonus | 1 | ATP13A2 CL E G H | 23400 | 606693 | Parkinson disease 9 | 606693 | C1847640 | OMIM | 1 | | 974 | 30213 | 610513 |
HP:0001336 | HP:0025097 | Eyelid myoclonus | 1 | ATP13A2 CL E G H | 23400 | 606693 | Parkinson disease 9 | 606693 | C1847640 | OMIM | 1 | | 974 | 30213 | 610513 |
HP:0001336 | HP:0012323 | Sleep myoclonus | 1 | ATP13A2 CL E G H | 23400 | 606693 | Parkinson disease 9 | 606693 | C1847640 | OMIM | 1 | | 974 | 30213 | 610513 |
HP:0001336 | HP:0025357 | Erratic myoclonus | 1 | ATP13A2 CL E G H | 23400 | 606693 | Parkinson disease 9 | 606693 | C1847640 | OMIM | 1 | | 974 | 30213 | 610513 |
HP:0001336 | HP:0003739 | Myoclonic spasms | 1 | ATP13A2 CL E G H | 23400 | 606693 | Parkinson disease 9 | 606693 | C1847640 | OMIM | 1 | | 974 | 30213 | 610513 |
HP:0001336 | HP:0031986 | Polyminimyoclonus | 1 | ATP13A2 CL E G H | 23400 | 606693 | Parkinson disease 9 | 606693 | C1847640 | OMIM | 1 | | 974 | 30213 | 610513 |
HP:0001336 | HP:0007000 | Morning myoclonic jerks | 1 | ATP13A2 CL E G H | 23400 | 606693 | Parkinson disease 9 | 606693 | C1847640 | OMIM | 1 | | 974 | 30213 | 610513 |
HP:0001336 | HP:0010530 | Palatal myoclonus | 1 | ATP13A2 CL E G H | 23400 | 606693 | Parkinson disease 9 | 606693 | C1847640 | OMIM | 1 | | 974 | 30213 | 610513 |
HP:0001336 | HP:0040148 | Cortical myoclonus | 1 | ATP13A2 CL E G H | 23400 | 606693 | Parkinson disease 9 | 606693 | C1847640 | OMIM | 1 | | 974 | 30213 | 610513 |
HP:0001336 | HP:0045084 | Limb myoclonus | 1 | ATP13A2 CL E G H | 23400 | 606693 | Parkinson disease 9 | 606693 | C1847640 | OMIM | 1 | | 974 | 30213 | 610513 |
HP:0001336 | HP:0012462 | Chin myoclonus | 1 | ATXN2 CL E G H | 6311 | 183090 | Spinocerebellar ataxia 2 | 183090 | C0752121 | OMIM | 1 | | 115 | 10555 | 601517 |
HP:0001336 | HP:0025097 | Eyelid myoclonus | 1 | ATXN2 CL E G H | 6311 | 183090 | Spinocerebellar ataxia 2 | 183090 | C0752121 | OMIM | 1 | | 115 | 10555 | 601517 |
HP:0001336 | HP:0010531 | Spinal myoclonus | 1 | ATXN2 CL E G H | 6311 | 183090 | Spinocerebellar ataxia 2 | 183090 | C0752121 | OMIM | 1 | | 115 | 10555 | 601517 |
HP:0001336 | HP:0025357 | Erratic myoclonus | 1 | ATXN2 CL E G H | 6311 | 183090 | Spinocerebellar ataxia 2 | 183090 | C0752121 | OMIM | 1 | | 115 | 10555 | 601517 |
HP:0001336 | HP:0003739 | Myoclonic spasms | 1 | ATXN2 CL E G H | 6311 | 183090 | Spinocerebellar ataxia 2 | 183090 | C0752121 | OMIM | 1 | | 115 | 10555 | 601517 |
HP:0001336 | HP:0012323 | Sleep myoclonus | 1 | ATXN2 CL E G H | 6311 | 183090 | Spinocerebellar ataxia 2 | 183090 | C0752121 | OMIM | 1 | | 115 | 10555 | 601517 |
HP:0001336 | HP:0007000 | Morning myoclonic jerks | 1 | ATXN2 CL E G H | 6311 | 183090 | Spinocerebellar ataxia 2 | 183090 | C0752121 | OMIM | 1 | | 115 | 10555 | 601517 |
HP:0001336 | HP:0031986 | Polyminimyoclonus | 1 | ATXN2 CL E G H | 6311 | 183090 | Spinocerebellar ataxia 2 | 183090 | C0752121 | OMIM | 1 | | 115 | 10555 | 601517 |
HP:0001336 | HP:0040148 | Cortical myoclonus | 1 | ATXN2 CL E G H | 6311 | 183090 | Spinocerebellar ataxia 2 | 183090 | C0752121 | OMIM | 1 | | 115 | 10555 | 601517 |
HP:0001336 | HP:0045084 | Limb myoclonus | 1 | ATXN2 CL E G H | 6311 | 183090 | Spinocerebellar ataxia 2 | 183090 | C0752121 | OMIM | 1 | | 115 | 10555 | 601517 |
HP:0001336 | HP:0010530 | Palatal myoclonus | 1 | ATXN2 CL E G H | 6311 | 183090 | Spinocerebellar ataxia 2 | 183090 | C0752121 | OMIM | 1 | | 115 | 10555 | 601517 |
HP:0001336 | HP:0012323 | Sleep myoclonus | 1 | BSCL2 CL E G H | 26580 | 363400 | | | | ORPHA | 1 | | 510 | 15832 | 606158 |
HP:0001336 | HP:0007000 | Morning myoclonic jerks | 1 | BSCL2 CL E G H | 26580 | 363400 | | | | ORPHA | 1 | | 510 | 15832 | 606158 |
HP:0001336 | HP:0031986 | Polyminimyoclonus | 1 | BSCL2 CL E G H | 26580 | 363400 | | | | ORPHA | 1 | | 510 | 15832 | 606158 |
HP:0001336 | HP:0040148 | Cortical myoclonus | 1 | BSCL2 CL E G H | 26580 | 363400 | | | | ORPHA | 1 | | 510 | 15832 | 606158 |
HP:0001336 | HP:0045084 | Limb myoclonus | 1 | BSCL2 CL E G H | 26580 | 363400 | | | | ORPHA | 1 | | 510 | 15832 | 606158 |
HP:0001336 | HP:0010530 | Palatal myoclonus | 1 | BSCL2 CL E G H | 26580 | 363400 | | | | ORPHA | 1 | | 510 | 15832 | 606158 |
HP:0001336 | HP:0012462 | Chin myoclonus | 1 | BSCL2 CL E G H | 26580 | 363400 | | | | ORPHA | 1 | | 510 | 15832 | 606158 |
HP:0001336 | HP:0025097 | Eyelid myoclonus | 1 | BSCL2 CL E G H | 26580 | 363400 | | | | ORPHA | 1 | | 510 | 15832 | 606158 |
HP:0001336 | HP:0010531 | Spinal myoclonus | 1 | BSCL2 CL E G H | 26580 | 363400 | | | | ORPHA | 1 | | 510 | 15832 | 606158 |
HP:0001336 | HP:0025357 | Erratic myoclonus | 1 | BSCL2 CL E G H | 26580 | 363400 | | | | ORPHA | 1 | | 510 | 15832 | 606158 |
HP:0001336 | HP:0003739 | Myoclonic spasms | 1 | BSCL2 CL E G H | 26580 | 363400 | | | | ORPHA | 1 | | 510 | 15832 | 606158 |
HP:0001336 | HP:0007000 | Morning myoclonic jerks | 1 | BSCL2 CL E G H | 26580 | 615924 | Encephalopathy, progressive, with or without lipodystrophy | 615924 | C4014700 | OMIM | 1 | | 510 | 15832 | 606158 |
HP:0001336 | HP:0031986 | Polyminimyoclonus | 1 | BSCL2 CL E G H | 26580 | 615924 | Encephalopathy, progressive, with or without lipodystrophy | 615924 | C4014700 | OMIM | 1 | | 510 | 15832 | 606158 |
HP:0001336 | HP:0040148 | Cortical myoclonus | 1 | BSCL2 CL E G H | 26580 | 615924 | Encephalopathy, progressive, with or without lipodystrophy | 615924 | C4014700 | OMIM | 1 | | 510 | 15832 | 606158 |
HP:0001336 | HP:0045084 | Limb myoclonus | 1 | BSCL2 CL E G H | 26580 | 615924 | Encephalopathy, progressive, with or without lipodystrophy | 615924 | C4014700 | OMIM | 1 | | 510 | 15832 | 606158 |
HP:0001336 | HP:0010530 | Palatal myoclonus | 1 | BSCL2 CL E G H | 26580 | 615924 | Encephalopathy, progressive, with or without lipodystrophy | 615924 | C4014700 | OMIM | 1 | | 510 | 15832 | 606158 |
HP:0001336 | HP:0012462 | Chin myoclonus | 1 | BSCL2 CL E G H | 26580 | 615924 | Encephalopathy, progressive, with or without lipodystrophy | 615924 | C4014700 | OMIM | 1 | | 510 | 15832 | 606158 |
HP:0001336 | HP:0025097 | Eyelid myoclonus | 1 | BSCL2 CL E G H | 26580 | 615924 | Encephalopathy, progressive, with or without lipodystrophy | 615924 | C4014700 | OMIM | 1 | | 510 | 15832 | 606158 |
HP:0001336 | HP:0010531 | Spinal myoclonus | 1 | BSCL2 CL E G H | 26580 | 615924 | Encephalopathy, progressive, with or without lipodystrophy | 615924 | C4014700 | OMIM | 1 | | 510 | 15832 | 606158 |
HP:0001336 | HP:0025357 | Erratic myoclonus | 1 | BSCL2 CL E G H | 26580 | 615924 | Encephalopathy, progressive, with or without lipodystrophy | 615924 | C4014700 | OMIM | 1 | | 510 | 15832 | 606158 |
HP:0001336 | HP:0003739 | Myoclonic spasms | 1 | BSCL2 CL E G H | 26580 | 615924 | Encephalopathy, progressive, with or without lipodystrophy | 615924 | C4014700 | OMIM | 1 | | 510 | 15832 | 606158 |
HP:0001336 | HP:0012323 | Sleep myoclonus | 1 | BSCL2 CL E G H | 26580 | 615924 | Encephalopathy, progressive, with or without lipodystrophy | 615924 | C4014700 | OMIM | 1 | | 510 | 15832 | 606158 |
HP:0001336 | HP:0007000 | Morning myoclonic jerks | 1 | CACNA1B CL E G H | 774 | 614860 | Dystonia 23 | 614860 | C3538999 | OMIM | 1 | | 1288 | 1389 | 601012 |
HP:0001336 | HP:0031986 | Polyminimyoclonus | 1 | CACNA1B CL E G H | 774 | 614860 | Dystonia 23 | 614860 | C3538999 | OMIM | 1 | | 1288 | 1389 | 601012 |
HP:0001336 | HP:0040148 | Cortical myoclonus | 1 | CACNA1B CL E G H | 774 | 614860 | Dystonia 23 | 614860 | C3538999 | OMIM | 1 | | 1288 | 1389 | 601012 |
HP:0001336 | HP:0045084 | Limb myoclonus | 1 | CACNA1B CL E G H | 774 | 614860 | Dystonia 23 | 614860 | C3538999 | OMIM | 1 | | 1288 | 1389 | 601012 |
HP:0001336 | HP:0010530 | Palatal myoclonus | 1 | CACNA1B CL E G H | 774 | 614860 | Dystonia 23 | 614860 | C3538999 | OMIM | 1 | | 1288 | 1389 | 601012 |
HP:0001336 | HP:0012462 | Chin myoclonus | 1 | CACNA1B CL E G H | 774 | 614860 | Dystonia 23 | 614860 | C3538999 | OMIM | 1 | | 1288 | 1389 | 601012 |
HP:0001336 | HP:0025097 | Eyelid myoclonus | 1 | CACNA1B CL E G H | 774 | 614860 | Dystonia 23 | 614860 | C3538999 | OMIM | 1 | | 1288 | 1389 | 601012 |
HP:0001336 | HP:0010531 | Spinal myoclonus | 1 | CACNA1B CL E G H | 774 | 614860 | Dystonia 23 | 614860 | C3538999 | OMIM | 1 | | 1288 | 1389 | 601012 |
HP:0001336 | HP:0025357 | Erratic myoclonus | 1 | CACNA1B CL E G H | 774 | 614860 | Dystonia 23 | 614860 | C3538999 | OMIM | 1 | | 1288 | 1389 | 601012 |
HP:0001336 | HP:0003739 | Myoclonic spasms | 1 | CACNA1B CL E G H | 774 | 614860 | Dystonia 23 | 614860 | C3538999 | OMIM | 1 | | 1288 | 1389 | 601012 |
HP:0001336 | HP:0012323 | Sleep myoclonus | 1 | CACNA1B CL E G H | 774 | 614860 | Dystonia 23 | 614860 | C3538999 | OMIM | 1 | | 1288 | 1389 | 601012 |
HP:0001336 | HP:0045084 | Limb myoclonus | 1 | CACNA1E CL E G H | 777 | 618285 | 618285 | 618285 | | OMIM | 1 | | 1583 | 1392 | 601013 |
HP:0001336 | HP:0010530 | Palatal myoclonus | 1 | CACNA1E CL E G H | 777 | 618285 | 618285 | 618285 | | OMIM | 1 | | 1583 | 1392 | 601013 |
HP:0001336 | HP:0040148 | Cortical myoclonus | 1 | CACNA1E CL E G H | 777 | 618285 | 618285 | 618285 | | OMIM | 1 | | 1583 | 1392 | 601013 |
HP:0001336 | HP:0025097 | Eyelid myoclonus | 1 | CACNA1E CL E G H | 777 | 618285 | 618285 | 618285 | | OMIM | 1 | | 1583 | 1392 | 601013 |
HP:0001336 | HP:0010531 | Spinal myoclonus | 1 | CACNA1E CL E G H | 777 | 618285 | 618285 | 618285 | | OMIM | 1 | | 1583 | 1392 | 601013 |
HP:0001336 | HP:0012462 | Chin myoclonus | 1 | CACNA1E CL E G H | 777 | 618285 | 618285 | 618285 | | OMIM | 1 | | 1583 | 1392 | 601013 |
HP:0001336 | HP:0025357 | Erratic myoclonus | 1 | CACNA1E CL E G H | 777 | 618285 | 618285 | 618285 | | OMIM | 1 | | 1583 | 1392 | 601013 |
HP:0001336 | HP:0003739 | Myoclonic spasms | 1 | CACNA1E CL E G H | 777 | 618285 | 618285 | 618285 | | OMIM | 1 | | 1583 | 1392 | 601013 |
HP:0001336 | HP:0012323 | Sleep myoclonus | 1 | CACNA1E CL E G H | 777 | 618285 | 618285 | 618285 | | OMIM | 1 | | 1583 | 1392 | 601013 |
HP:0001336 | HP:0007000 | Morning myoclonic jerks | 1 | CACNA1E CL E G H | 777 | 618285 | 618285 | 618285 | | OMIM | 1 | | 1583 | 1392 | 601013 |
HP:0001336 | HP:0031986 | Polyminimyoclonus | 1 | CACNA1E CL E G H | 777 | 618285 | 618285 | 618285 | | OMIM | 1 | | 1583 | 1392 | 601013 |
HP:0001336 | HP:0025097 | Eyelid myoclonus | 1 | CARS2 CL E G H | 79587 | 616672 | Combined oxidative phosphorylation deficiency 27 | 616672 | C4225251 | OMIM | 1 | | 825 | 25695 | 612800 |
HP:0001336 | HP:0010531 | Spinal myoclonus | 1 | CARS2 CL E G H | 79587 | 616672 | Combined oxidative phosphorylation deficiency 27 | 616672 | C4225251 | OMIM | 1 | | 825 | 25695 | 612800 |
HP:0001336 | HP:0012462 | Chin myoclonus | 1 | CARS2 CL E G H | 79587 | 616672 | Combined oxidative phosphorylation deficiency 27 | 616672 | C4225251 | OMIM | 1 | | 825 | 25695 | 612800 |
HP:0001336 | HP:0003739 | Myoclonic spasms | 1 | CARS2 CL E G H | 79587 | 616672 | Combined oxidative phosphorylation deficiency 27 | 616672 | C4225251 | OMIM | 1 | | 825 | 25695 | 612800 |
HP:0001336 | HP:0012323 | Sleep myoclonus | 1 | CARS2 CL E G H | 79587 | 616672 | Combined oxidative phosphorylation deficiency 27 | 616672 | C4225251 | OMIM | 1 | | 825 | 25695 | 612800 |
HP:0001336 | HP:0025357 | Erratic myoclonus | 1 | CARS2 CL E G H | 79587 | 616672 | Combined oxidative phosphorylation deficiency 27 | 616672 | C4225251 | OMIM | 1 | | 825 | 25695 | 612800 |
HP:0001336 | HP:0007000 | Morning myoclonic jerks | 1 | CARS2 CL E G H | 79587 | 616672 | Combined oxidative phosphorylation deficiency 27 | 616672 | C4225251 | OMIM | 1 | | 825 | 25695 | 612800 |
HP:0001336 | HP:0031986 | Polyminimyoclonus | 1 | CARS2 CL E G H | 79587 | 616672 | Combined oxidative phosphorylation deficiency 27 | 616672 | C4225251 | OMIM | 1 | | 825 | 25695 | 612800 |
HP:0001336 | HP:0045084 | Limb myoclonus | 1 | CARS2 CL E G H | 79587 | 616672 | Combined oxidative phosphorylation deficiency 27 | 616672 | C4225251 | OMIM | 1 | | 825 | 25695 | 612800 |
HP:0001336 | HP:0010530 | Palatal myoclonus | 1 | CARS2 CL E G H | 79587 | 616672 | Combined oxidative phosphorylation deficiency 27 | 616672 | C4225251 | OMIM | 1 | | 825 | 25695 | 612800 |
HP:0001336 | HP:0040148 | Cortical myoclonus | 1 | CARS2 CL E G H | 79587 | 616672 | Combined oxidative phosphorylation deficiency 27 | 616672 | C4225251 | OMIM | 1 | | 825 | 25695 | 612800 |
HP:0001336 | HP:0045084 | Limb myoclonus | 1 | CCDC88A CL E G H | 55704 | 617507 | PEHO-like syndrome | 617507 | C1850056 | OMIM | 1 | | 838 | 25523 | 609736 |
HP:0001336 | HP:0010530 | Palatal myoclonus | 1 | CCDC88A CL E G H | 55704 | 617507 | PEHO-like syndrome | 617507 | C1850056 | OMIM | 1 | | 838 | 25523 | 609736 |
HP:0001336 | HP:0040148 | Cortical myoclonus | 1 | CCDC88A CL E G H | 55704 | 617507 | PEHO-like syndrome | 617507 | C1850056 | OMIM | 1 | | 838 | 25523 | 609736 |
HP:0001336 | HP:0025097 | Eyelid myoclonus | 1 | CCDC88A CL E G H | 55704 | 617507 | PEHO-like syndrome | 617507 | C1850056 | OMIM | 1 | | 838 | 25523 | 609736 |
HP:0001336 | HP:0010531 | Spinal myoclonus | 1 | CCDC88A CL E G H | 55704 | 617507 | PEHO-like syndrome | 617507 | C1850056 | OMIM | 1 | | 838 | 25523 | 609736 |
HP:0001336 | HP:0012462 | Chin myoclonus | 1 | CCDC88A CL E G H | 55704 | 617507 | PEHO-like syndrome | 617507 | C1850056 | OMIM | 1 | | 838 | 25523 | 609736 |
HP:0001336 | HP:0003739 | Myoclonic spasms | 1 | CCDC88A CL E G H | 55704 | 617507 | PEHO-like syndrome | 617507 | C1850056 | OMIM | 1 | | 838 | 25523 | 609736 |
HP:0001336 | HP:0012323 | Sleep myoclonus | 1 | CCDC88A CL E G H | 55704 | 617507 | PEHO-like syndrome | 617507 | C1850056 | OMIM | 1 | | 838 | 25523 | 609736 |
HP:0001336 | HP:0025357 | Erratic myoclonus | 1 | CCDC88A CL E G H | 55704 | 617507 | PEHO-like syndrome | 617507 | C1850056 | OMIM | 1 | | 838 | 25523 | 609736 |
HP:0001336 | HP:0007000 | Morning myoclonic jerks | 1 | CCDC88A CL E G H | 55704 | 617507 | PEHO-like syndrome | 617507 | C1850056 | OMIM | 1 | | 838 | 25523 | 609736 |
HP:0001336 | HP:0031986 | Polyminimyoclonus | 1 | CCDC88A CL E G H | 55704 | 617507 | PEHO-like syndrome | 617507 | C1850056 | OMIM | 1 | | 838 | 25523 | 609736 |
HP:0001336 | HP:0025097 | Eyelid myoclonus | 1 | CDKL5 CL E G H | 6792 | 300672 | Early infantile epileptic encephalopathy 2 | 300672 | C1839333 | OMIM | 1 | | 1738 | 11411 | 300203 |
HP:0001336 | HP:0010531 | Spinal myoclonus | 1 | CDKL5 CL E G H | 6792 | 300672 | Early infantile epileptic encephalopathy 2 | 300672 | C1839333 | OMIM | 1 | | 1738 | 11411 | 300203 |
HP:0001336 | HP:0012462 | Chin myoclonus | 1 | CDKL5 CL E G H | 6792 | 300672 | Early infantile epileptic encephalopathy 2 | 300672 | C1839333 | OMIM | 1 | | 1738 | 11411 | 300203 |
HP:0001336 | HP:0025357 | Erratic myoclonus | 1 | CDKL5 CL E G H | 6792 | 300672 | Early infantile epileptic encephalopathy 2 | 300672 | C1839333 | OMIM | 1 | | 1738 | 11411 | 300203 |
HP:0001336 | HP:0003739 | Myoclonic spasms | 1 | CDKL5 CL E G H | 6792 | 300672 | Early infantile epileptic encephalopathy 2 | 300672 | C1839333 | OMIM | 1 | | 1738 | 11411 | 300203 |
HP:0001336 | HP:0012323 | Sleep myoclonus | 1 | CDKL5 CL E G H | 6792 | 300672 | Early infantile epileptic encephalopathy 2 | 300672 | C1839333 | OMIM | 1 | | 1738 | 11411 | 300203 |
HP:0001336 | HP:0007000 | Morning myoclonic jerks | 1 | CDKL5 CL E G H | 6792 | 300672 | Early infantile epileptic encephalopathy 2 | 300672 | C1839333 | OMIM | 1 | | 1738 | 11411 | 300203 |
HP:0001336 | HP:0031986 | Polyminimyoclonus | 1 | CDKL5 CL E G H | 6792 | 300672 | Early infantile epileptic encephalopathy 2 | 300672 | C1839333 | OMIM | 1 | | 1738 | 11411 | 300203 |
HP:0001336 | HP:0040148 | Cortical myoclonus | 1 | CDKL5 CL E G H | 6792 | 300672 | Early infantile epileptic encephalopathy 2 | 300672 | C1839333 | OMIM | 1 | | 1738 | 11411 | 300203 |
HP:0001336 | HP:0045084 | Limb myoclonus | 1 | CDKL5 CL E G H | 6792 | 300672 | Early infantile epileptic encephalopathy 2 | 300672 | C1839333 | OMIM | 1 | | 1738 | 11411 | 300203 |
HP:0001336 | HP:0010530 | Palatal myoclonus | 1 | CDKL5 CL E G H | 6792 | 300672 | Early infantile epileptic encephalopathy 2 | 300672 | C1839333 | OMIM | 1 | | 1738 | 11411 | 300203 |
HP:0001336 | HP:0012462 | Chin myoclonus | 1 | CDKL5 CL E G H | 6792 | 3451 | Meier Blumberg Imahorn syndrome | | | ORPHA | 1 | | 1738 | 11411 | 300203 |
HP:0001336 | HP:0025097 | Eyelid myoclonus | 1 | CDKL5 CL E G H | 6792 | 3451 | Meier Blumberg Imahorn syndrome | | | ORPHA | 1 | | 1738 | 11411 | 300203 |
HP:0001336 | HP:0010531 | Spinal myoclonus | 1 | CDKL5 CL E G H | 6792 | 3451 | Meier Blumberg Imahorn syndrome | | | ORPHA | 1 | | 1738 | 11411 | 300203 |
HP:0001336 | HP:0025357 | Erratic myoclonus | 1 | CDKL5 CL E G H | 6792 | 3451 | Meier Blumberg Imahorn syndrome | | | ORPHA | 1 | | 1738 | 11411 | 300203 |
HP:0001336 | HP:0003739 | Myoclonic spasms | 1 | CDKL5 CL E G H | 6792 | 3451 | Meier Blumberg Imahorn syndrome | | | ORPHA | 1 | | 1738 | 11411 | 300203 |
HP:0001336 | HP:0012323 | Sleep myoclonus | 1 | CDKL5 CL E G H | 6792 | 3451 | Meier Blumberg Imahorn syndrome | | | ORPHA | 1 | | 1738 | 11411 | 300203 |
HP:0001336 | HP:0007000 | Morning myoclonic jerks | 1 | CDKL5 CL E G H | 6792 | 3451 | Meier Blumberg Imahorn syndrome | | | ORPHA | 1 | | 1738 | 11411 | 300203 |
HP:0001336 | HP:0031986 | Polyminimyoclonus | 1 | CDKL5 CL E G H | 6792 | 3451 | Meier Blumberg Imahorn syndrome | | | ORPHA | 1 | | 1738 | 11411 | 300203 |
HP:0001336 | HP:0040148 | Cortical myoclonus | 1 | CDKL5 CL E G H | 6792 | 3451 | Meier Blumberg Imahorn syndrome | | | ORPHA | 1 | | 1738 | 11411 | 300203 |
HP:0001336 | HP:0045084 | Limb myoclonus | 1 | CDKL5 CL E G H | 6792 | 3451 | Meier Blumberg Imahorn syndrome | | | ORPHA | 1 | | 1738 | 11411 | 300203 |
HP:0001336 | HP:0010530 | Palatal myoclonus | 1 | CDKL5 CL E G H | 6792 | 3451 | Meier Blumberg Imahorn syndrome | | | ORPHA | 1 | | 1738 | 11411 | 300203 |
HP:0001336 | HP:0012462 | Chin myoclonus | 1 | CERS1 CL E G H | 10715 | 616230 | Epilepsy, progressive myoclonic 8 | 616230 | C4015619 | OMIM | 1 | | 411 | 14253 | 606919 |
HP:0001336 | HP:0025097 | Eyelid myoclonus | 1 | CERS1 CL E G H | 10715 | 616230 | Epilepsy, progressive myoclonic 8 | 616230 | C4015619 | OMIM | 1 | | 411 | 14253 | 606919 |
HP:0001336 | HP:0010531 | Spinal myoclonus | 1 | CERS1 CL E G H | 10715 | 616230 | Epilepsy, progressive myoclonic 8 | 616230 | C4015619 | OMIM | 1 | | 411 | 14253 | 606919 |
HP:0001336 | HP:0025357 | Erratic myoclonus | 1 | CERS1 CL E G H | 10715 | 616230 | Epilepsy, progressive myoclonic 8 | 616230 | C4015619 | OMIM | 1 | | 411 | 14253 | 606919 |
HP:0001336 | HP:0003739 | Myoclonic spasms | 1 | CERS1 CL E G H | 10715 | 616230 | Epilepsy, progressive myoclonic 8 | 616230 | C4015619 | OMIM | 1 | | 411 | 14253 | 606919 |
HP:0001336 | HP:0012323 | Sleep myoclonus | 1 | CERS1 CL E G H | 10715 | 616230 | Epilepsy, progressive myoclonic 8 | 616230 | C4015619 | OMIM | 1 | | 411 | 14253 | 606919 |
HP:0001336 | HP:0007000 | Morning myoclonic jerks | 1 | CERS1 CL E G H | 10715 | 616230 | Epilepsy, progressive myoclonic 8 | 616230 | C4015619 | OMIM | 1 | | 411 | 14253 | 606919 |
HP:0001336 | HP:0031986 | Polyminimyoclonus | 1 | CERS1 CL E G H | 10715 | 616230 | Epilepsy, progressive myoclonic 8 | 616230 | C4015619 | OMIM | 1 | | 411 | 14253 | 606919 |
HP:0001336 | HP:0040148 | Cortical myoclonus | 1 | CERS1 CL E G H | 10715 | 616230 | Epilepsy, progressive myoclonic 8 | 616230 | C4015619 | OMIM | 1 | | 411 | 14253 | 606919 |
HP:0001336 | HP:0045084 | Limb myoclonus | 1 | CERS1 CL E G H | 10715 | 616230 | Epilepsy, progressive myoclonic 8 | 616230 | C4015619 | OMIM | 1 | | 411 | 14253 | 606919 |
HP:0001336 | HP:0010530 | Palatal myoclonus | 1 | CERS1 CL E G H | 10715 | 616230 | Epilepsy, progressive myoclonic 8 | 616230 | C4015619 | OMIM | 1 | | 411 | 14253 | 606919 |
HP:0001336 | HP:0007000 | Morning myoclonic jerks | 1 | CHD2 CL E G H | 1106 | 2382 | | | | ORPHA | 1 | | 1838 | 1917 | 602119 |
HP:0001336 | HP:0031986 | Polyminimyoclonus | 1 | CHD2 CL E G H | 1106 | 2382 | | | | ORPHA | 1 | | 1838 | 1917 | 602119 |
HP:0001336 | HP:0040148 | Cortical myoclonus | 1 | CHD2 CL E G H | 1106 | 2382 | | | | ORPHA | 1 | | 1838 | 1917 | 602119 |
HP:0001336 | HP:0045084 | Limb myoclonus | 1 | CHD2 CL E G H | 1106 | 2382 | | | | ORPHA | 1 | | 1838 | 1917 | 602119 |
HP:0001336 | HP:0010530 | Palatal myoclonus | 1 | CHD2 CL E G H | 1106 | 2382 | | | | ORPHA | 1 | | 1838 | 1917 | 602119 |
HP:0001336 | HP:0010531 | Spinal myoclonus | 1 | CHD2 CL E G H | 1106 | 2382 | | | | ORPHA | 1 | | 1838 | 1917 | 602119 |
HP:0001336 | HP:0012462 | Chin myoclonus | 1 | CHD2 CL E G H | 1106 | 2382 | | | | ORPHA | 1 | | 1838 | 1917 | 602119 |
HP:0001336 | HP:0025097 | Eyelid myoclonus | 1 | CHD2 CL E G H | 1106 | 2382 | | | | ORPHA | 1 | | 1838 | 1917 | 602119 |
HP:0001336 | HP:0025357 | Erratic myoclonus | 1 | CHD2 CL E G H | 1106 | 2382 | | | | ORPHA | 1 | | 1838 | 1917 | 602119 |
HP:0001336 | HP:0003739 | Myoclonic spasms | 1 | CHD2 CL E G H | 1106 | 2382 | | | | ORPHA | 1 | | 1838 | 1917 | 602119 |
HP:0001336 | HP:0012323 | Sleep myoclonus | 1 | CHD2 CL E G H | 1106 | 2382 | | | | ORPHA | 1 | | 1838 | 1917 | 602119 |
HP:0001336 | HP:0007000 | Morning myoclonic jerks | 1 | CHMP2B CL E G H | 25978 | 600795 | Frontotemporal Dementia, Chromosome 3-Linked | 600795 | C1833296 | OMIM | 1 | | 160 | 24537 | 609512 |
HP:0001336 | HP:0031986 | Polyminimyoclonus | 1 | CHMP2B CL E G H | 25978 | 600795 | Frontotemporal Dementia, Chromosome 3-Linked | 600795 | C1833296 | OMIM | 1 | | 160 | 24537 | 609512 |
HP:0001336 | HP:0040148 | Cortical myoclonus | 1 | CHMP2B CL E G H | 25978 | 600795 | Frontotemporal Dementia, Chromosome 3-Linked | 600795 | C1833296 | OMIM | 1 | | 160 | 24537 | 609512 |
HP:0001336 | HP:0045084 | Limb myoclonus | 1 | CHMP2B CL E G H | 25978 | 600795 | Frontotemporal Dementia, Chromosome 3-Linked | 600795 | C1833296 | OMIM | 1 | | 160 | 24537 | 609512 |
HP:0001336 | HP:0010530 | Palatal myoclonus | 1 | CHMP2B CL E G H | 25978 | 600795 | Frontotemporal Dementia, Chromosome 3-Linked | 600795 | C1833296 | OMIM | 1 | | 160 | 24537 | 609512 |
HP:0001336 | HP:0012462 | Chin myoclonus | 1 | CHMP2B CL E G H | 25978 | 600795 | Frontotemporal Dementia, Chromosome 3-Linked | 600795 | C1833296 | OMIM | 1 | | 160 | 24537 | 609512 |
HP:0001336 | HP:0025097 | Eyelid myoclonus | 1 | CHMP2B CL E G H | 25978 | 600795 | Frontotemporal Dementia, Chromosome 3-Linked | 600795 | C1833296 | OMIM | 1 | | 160 | 24537 | 609512 |
HP:0001336 | HP:0010531 | Spinal myoclonus | 1 | CHMP2B CL E G H | 25978 | 600795 | Frontotemporal Dementia, Chromosome 3-Linked | 600795 | C1833296 | OMIM | 1 | | 160 | 24537 | 609512 |
HP:0001336 | HP:0025357 | Erratic myoclonus | 1 | CHMP2B CL E G H | 25978 | 600795 | Frontotemporal Dementia, Chromosome 3-Linked | 600795 | C1833296 | OMIM | 1 | | 160 | 24537 | 609512 |
HP:0001336 | HP:0003739 | Myoclonic spasms | 1 | CHMP2B CL E G H | 25978 | 600795 | Frontotemporal Dementia, Chromosome 3-Linked | 600795 | C1833296 | OMIM | 1 | | 160 | 24537 | 609512 |
HP:0001336 | HP:0012323 | Sleep myoclonus | 1 | CHMP2B CL E G H | 25978 | 600795 | Frontotemporal Dementia, Chromosome 3-Linked | 600795 | C1833296 | OMIM | 1 | | 160 | 24537 | 609512 |
HP:0001336 | HP:0025357 | Erratic myoclonus | 1 | CIZ1 CL E G H | 25792 | 420492 | | | | ORPHA | 1 | | 352 | 16744 | 611420 |
HP:0001336 | HP:0003739 | Myoclonic spasms | 1 | CIZ1 CL E G H | 25792 | 420492 | | | | ORPHA | 1 | | 352 | 16744 | 611420 |
HP:0001336 | HP:0012323 | Sleep myoclonus | 1 | CIZ1 CL E G H | 25792 | 420492 | | | | ORPHA | 1 | | 352 | 16744 | 611420 |
HP:0001336 | HP:0007000 | Morning myoclonic jerks | 1 | CIZ1 CL E G H | 25792 | 420492 | | | | ORPHA | 1 | | 352 | 16744 | 611420 |
HP:0001336 | HP:0031986 | Polyminimyoclonus | 1 | CIZ1 CL E G H | 25792 | 420492 | | | | ORPHA | 1 | | 352 | 16744 | 611420 |
HP:0001336 | HP:0040148 | Cortical myoclonus | 1 | CIZ1 CL E G H | 25792 | 420492 | | | | ORPHA | 1 | | 352 | 16744 | 611420 |
HP:0001336 | HP:0045084 | Limb myoclonus | 1 | CIZ1 CL E G H | 25792 | 420492 | | | | ORPHA | 1 | | 352 | 16744 | 611420 |
HP:0001336 | HP:0010530 | Palatal myoclonus | 1 | CIZ1 CL E G H | 25792 | 420492 | | | | ORPHA | 1 | | 352 | 16744 | 611420 |
HP:0001336 | HP:0012462 | Chin myoclonus | 1 | CIZ1 CL E G H | 25792 | 420492 | | | | ORPHA | 1 | | 352 | 16744 | 611420 |
HP:0001336 | HP:0025097 | Eyelid myoclonus | 1 | CIZ1 CL E G H | 25792 | 420492 | | | | ORPHA | 1 | | 352 | 16744 | 611420 |
HP:0001336 | HP:0010531 | Spinal myoclonus | 1 | CIZ1 CL E G H | 25792 | 420492 | | | | ORPHA | 1 | | 352 | 16744 | 611420 |
HP:0001336 | HP:0010531 | Spinal myoclonus | 1 | CLN3 CL E G H | 1201 | 204200 | Juvenile neuronal ceroid lipofuscinosis | 204200 | C0751383 | OMIM | 1 | | 1015 | 2074 | 607042 |
HP:0001336 | HP:0012462 | Chin myoclonus | 1 | CLN3 CL E G H | 1201 | 204200 | Juvenile neuronal ceroid lipofuscinosis | 204200 | C0751383 | OMIM | 1 | | 1015 | 2074 | 607042 |
HP:0001336 | HP:0025097 | Eyelid myoclonus | 1 | CLN3 CL E G H | 1201 | 204200 | Juvenile neuronal ceroid lipofuscinosis | 204200 | C0751383 | OMIM | 1 | | 1015 | 2074 | 607042 |
HP:0001336 | HP:0003739 | Myoclonic spasms | 1 | CLN3 CL E G H | 1201 | 204200 | Juvenile neuronal ceroid lipofuscinosis | 204200 | C0751383 | OMIM | 1 | | 1015 | 2074 | 607042 |
HP:0001336 | HP:0012323 | Sleep myoclonus | 1 | CLN3 CL E G H | 1201 | 204200 | Juvenile neuronal ceroid lipofuscinosis | 204200 | C0751383 | OMIM | 1 | | 1015 | 2074 | 607042 |
HP:0001336 | HP:0025357 | Erratic myoclonus | 1 | CLN3 CL E G H | 1201 | 204200 | Juvenile neuronal ceroid lipofuscinosis | 204200 | C0751383 | OMIM | 1 | | 1015 | 2074 | 607042 |
HP:0001336 | HP:0007000 | Morning myoclonic jerks | 1 | CLN3 CL E G H | 1201 | 204200 | Juvenile neuronal ceroid lipofuscinosis | 204200 | C0751383 | OMIM | 1 | | 1015 | 2074 | 607042 |
HP:0001336 | HP:0031986 | Polyminimyoclonus | 1 | CLN3 CL E G H | 1201 | 204200 | Juvenile neuronal ceroid lipofuscinosis | 204200 | C0751383 | OMIM | 1 | | 1015 | 2074 | 607042 |
HP:0001336 | HP:0010530 | Palatal myoclonus | 1 | CLN3 CL E G H | 1201 | 204200 | Juvenile neuronal ceroid lipofuscinosis | 204200 | C0751383 | OMIM | 1 | | 1015 | 2074 | 607042 |
HP:0001336 | HP:0040148 | Cortical myoclonus | 1 | CLN3 CL E G H | 1201 | 204200 | Juvenile neuronal ceroid lipofuscinosis | 204200 | C0751383 | OMIM | 1 | | 1015 | 2074 | 607042 |
HP:0001336 | HP:0045084 | Limb myoclonus | 1 | CLN3 CL E G H | 1201 | 204200 | Juvenile neuronal ceroid lipofuscinosis | 204200 | C0751383 | OMIM | 1 | | 1015 | 2074 | 607042 |
HP:0001336 | HP:0031986 | Polyminimyoclonus | 1 | CLN5 CL E G H | 1203 | 256731 | Ceroid lipofuscinosis neuronal 5 | 256731 | C1850442 | OMIM | 1 | | 702 | 2076 | 608102 |
HP:0001336 | HP:0007000 | Morning myoclonic jerks | 1 | CLN5 CL E G H | 1203 | 256731 | Ceroid lipofuscinosis neuronal 5 | 256731 | C1850442 | OMIM | 1 | | 702 | 2076 | 608102 |
HP:0001336 | HP:0040148 | Cortical myoclonus | 1 | CLN5 CL E G H | 1203 | 256731 | Ceroid lipofuscinosis neuronal 5 | 256731 | C1850442 | OMIM | 1 | | 702 | 2076 | 608102 |
HP:0001336 | HP:0045084 | Limb myoclonus | 1 | CLN5 CL E G H | 1203 | 256731 | Ceroid lipofuscinosis neuronal 5 | 256731 | C1850442 | OMIM | 1 | | 702 | 2076 | 608102 |
HP:0001336 | HP:0010530 | Palatal myoclonus | 1 | CLN5 CL E G H | 1203 | 256731 | Ceroid lipofuscinosis neuronal 5 | 256731 | C1850442 | OMIM | 1 | | 702 | 2076 | 608102 |
HP:0001336 | HP:0010531 | Spinal myoclonus | 1 | CLN5 CL E G H | 1203 | 256731 | Ceroid lipofuscinosis neuronal 5 | 256731 | C1850442 | OMIM | 1 | | 702 | 2076 | 608102 |
HP:0001336 | HP:0012462 | Chin myoclonus | 1 | CLN5 CL E G H | 1203 | 256731 | Ceroid lipofuscinosis neuronal 5 | 256731 | C1850442 | OMIM | 1 | | 702 | 2076 | 608102 |
HP:0001336 | HP:0025097 | Eyelid myoclonus | 1 | CLN5 CL E G H | 1203 | 256731 | Ceroid lipofuscinosis neuronal 5 | 256731 | C1850442 | OMIM | 1 | | 702 | 2076 | 608102 |
HP:0001336 | HP:0012323 | Sleep myoclonus | 1 | CLN5 CL E G H | 1203 | 256731 | Ceroid lipofuscinosis neuronal 5 | 256731 | C1850442 | OMIM | 1 | | 702 | 2076 | 608102 |
HP:0001336 | HP:0025357 | Erratic myoclonus | 1 | CLN5 CL E G H | 1203 | 256731 | Ceroid lipofuscinosis neuronal 5 | 256731 | C1850442 | OMIM | 1 | | 702 | 2076 | 608102 |
HP:0001336 | HP:0003739 | Myoclonic spasms | 1 | CLN5 CL E G H | 1203 | 256731 | Ceroid lipofuscinosis neuronal 5 | 256731 | C1850442 | OMIM | 1 | | 702 | 2076 | 608102 |
HP:0001336 | HP:0007000 | Morning myoclonic jerks | 1 | CLN6 CL E G H | 54982 | 204300 | Adult neuronal ceroid lipofuscinosis | 204300 | C0022797 | OMIM | 1 | | 661 | 2077 | 606725 |
HP:0001336 | HP:0031986 | Polyminimyoclonus | 1 | CLN6 CL E G H | 54982 | 204300 | Adult neuronal ceroid lipofuscinosis | 204300 | C0022797 | OMIM | 1 | | 661 | 2077 | 606725 |
HP:0001336 | HP:0040148 | Cortical myoclonus | 1 | CLN6 CL E G H | 54982 | 204300 | Adult neuronal ceroid lipofuscinosis | 204300 | C0022797 | OMIM | 1 | | 661 | 2077 | 606725 |
HP:0001336 | HP:0045084 | Limb myoclonus | 1 | CLN6 CL E G H | 54982 | 204300 | Adult neuronal ceroid lipofuscinosis | 204300 | C0022797 | OMIM | 1 | | 661 | 2077 | 606725 |
HP:0001336 | HP:0010530 | Palatal myoclonus | 1 | CLN6 CL E G H | 54982 | 204300 | Adult neuronal ceroid lipofuscinosis | 204300 | C0022797 | OMIM | 1 | | 661 | 2077 | 606725 |
HP:0001336 | HP:0010531 | Spinal myoclonus | 1 | CLN6 CL E G H | 54982 | 204300 | Adult neuronal ceroid lipofuscinosis | 204300 | C0022797 | OMIM | 1 | | 661 | 2077 | 606725 |
HP:0001336 | HP:0012462 | Chin myoclonus | 1 | CLN6 CL E G H | 54982 | 204300 | Adult neuronal ceroid lipofuscinosis | 204300 | C0022797 | OMIM | 1 | | 661 | 2077 | 606725 |
HP:0001336 | HP:0025097 | Eyelid myoclonus | 1 | CLN6 CL E G H | 54982 | 204300 | Adult neuronal ceroid lipofuscinosis | 204300 | C0022797 | OMIM | 1 | | 661 | 2077 | 606725 |
HP:0001336 | HP:0012323 | Sleep myoclonus | 1 | CLN6 CL E G H | 54982 | 204300 | Adult neuronal ceroid lipofuscinosis | 204300 | C0022797 | OMIM | 1 | | 661 | 2077 | 606725 |
HP:0001336 | HP:0025357 | Erratic myoclonus | 1 | CLN6 CL E G H | 54982 | 204300 | Adult neuronal ceroid lipofuscinosis | 204300 | C0022797 | OMIM | 1 | | 661 | 2077 | 606725 |
HP:0001336 | HP:0003739 | Myoclonic spasms | 1 | CLN6 CL E G H | 54982 | 204300 | Adult neuronal ceroid lipofuscinosis | 204300 | C0022797 | OMIM | 1 | | 661 | 2077 | 606725 |
HP:0001336 | HP:0010531 | Spinal myoclonus | 1 | CLN8 CL E G H | 2055 | 600143 | Ceroid lipofuscinosis neuronal 8 | 600143 | C1838570 | OMIM | 1 | | 640 | 2079 | 607837 |
HP:0001336 | HP:0012462 | Chin myoclonus | 1 | CLN8 CL E G H | 2055 | 600143 | Ceroid lipofuscinosis neuronal 8 | 600143 | C1838570 | OMIM | 1 | | 640 | 2079 | 607837 |
HP:0001336 | HP:0025097 | Eyelid myoclonus | 1 | CLN8 CL E G H | 2055 | 600143 | Ceroid lipofuscinosis neuronal 8 | 600143 | C1838570 | OMIM | 1 | | 640 | 2079 | 607837 |
HP:0001336 | HP:0012323 | Sleep myoclonus | 1 | CLN8 CL E G H | 2055 | 600143 | Ceroid lipofuscinosis neuronal 8 | 600143 | C1838570 | OMIM | 1 | | 640 | 2079 | 607837 |
HP:0001336 | HP:0025357 | Erratic myoclonus | 1 | CLN8 CL E G H | 2055 | 600143 | Ceroid lipofuscinosis neuronal 8 | 600143 | C1838570 | OMIM | 1 | | 640 | 2079 | 607837 |
HP:0001336 | HP:0003739 | Myoclonic spasms | 1 | CLN8 CL E G H | 2055 | 600143 | Ceroid lipofuscinosis neuronal 8 | 600143 | C1838570 | OMIM | 1 | | 640 | 2079 | 607837 |
HP:0001336 | HP:0031986 | Polyminimyoclonus | 1 | CLN8 CL E G H | 2055 | 600143 | Ceroid lipofuscinosis neuronal 8 | 600143 | C1838570 | OMIM | 1 | | 640 | 2079 | 607837 |
HP:0001336 | HP:0007000 | Morning myoclonic jerks | 1 | CLN8 CL E G H | 2055 | 600143 | Ceroid lipofuscinosis neuronal 8 | 600143 | C1838570 | OMIM | 1 | | 640 | 2079 | 607837 |
HP:0001336 | HP:0040148 | Cortical myoclonus | 1 | CLN8 CL E G H | 2055 | 600143 | Ceroid lipofuscinosis neuronal 8 | 600143 | C1838570 | OMIM | 1 | | 640 | 2079 | 607837 |
HP:0001336 | HP:0045084 | Limb myoclonus | 1 | CLN8 CL E G H | 2055 | 600143 | Ceroid lipofuscinosis neuronal 8 | 600143 | C1838570 | OMIM | 1 | | 640 | 2079 | 607837 |
HP:0001336 | HP:0010530 | Palatal myoclonus | 1 | CLN8 CL E G H | 2055 | 600143 | Ceroid lipofuscinosis neuronal 8 | 600143 | C1838570 | OMIM | 1 | | 640 | 2079 | 607837 |
HP:0001336 | HP:0007000 | Morning myoclonic jerks | 1 | CNPY3 CL E G H | 10695 | 3451 | Meier Blumberg Imahorn syndrome | | | ORPHA | 1 | | 44 | 11968 | 610774 |
HP:0001336 | HP:0031986 | Polyminimyoclonus | 1 | CNPY3 CL E G H | 10695 | 3451 | Meier Blumberg Imahorn syndrome | | | ORPHA | 1 | | 44 | 11968 | 610774 |
HP:0001336 | HP:0045084 | Limb myoclonus | 1 | CNPY3 CL E G H | 10695 | 3451 | Meier Blumberg Imahorn syndrome | | | ORPHA | 1 | | 44 | 11968 | 610774 |
HP:0001336 | HP:0010530 | Palatal myoclonus | 1 | CNPY3 CL E G H | 10695 | 3451 | Meier Blumberg Imahorn syndrome | | | ORPHA | 1 | | 44 | 11968 | 610774 |
HP:0001336 | HP:0040148 | Cortical myoclonus | 1 | CNPY3 CL E G H | 10695 | 3451 | Meier Blumberg Imahorn syndrome | | | ORPHA | 1 | | 44 | 11968 | 610774 |
HP:0001336 | HP:0025097 | Eyelid myoclonus | 1 | CNPY3 CL E G H | 10695 | 3451 | Meier Blumberg Imahorn syndrome | | | ORPHA | 1 | | 44 | 11968 | 610774 |
HP:0001336 | HP:0010531 | Spinal myoclonus | 1 | CNPY3 CL E G H | 10695 | 3451 | Meier Blumberg Imahorn syndrome | | | ORPHA | 1 | | 44 | 11968 | 610774 |
HP:0001336 | HP:0012462 | Chin myoclonus | 1 | CNPY3 CL E G H | 10695 | 3451 | Meier Blumberg Imahorn syndrome | | | ORPHA | 1 | | 44 | 11968 | 610774 |
HP:0001336 | HP:0025357 | Erratic myoclonus | 1 | CNPY3 CL E G H | 10695 | 3451 | Meier Blumberg Imahorn syndrome | | | ORPHA | 1 | | 44 | 11968 | 610774 |
HP:0001336 | HP:0003739 | Myoclonic spasms | 1 | CNPY3 CL E G H | 10695 | 3451 | Meier Blumberg Imahorn syndrome | | | ORPHA | 1 | | 44 | 11968 | 610774 |
HP:0001336 | HP:0012323 | Sleep myoclonus | 1 | CNPY3 CL E G H | 10695 | 3451 | Meier Blumberg Imahorn syndrome | | | ORPHA | 1 | | 44 | 11968 | 610774 |
HP:0001336 | HP:0010531 | Spinal myoclonus | 1 | CNTN2 CL E G H | 6900 | 86814 | | | | ORPHA | 1 | | 676 | 2172 | 190197 |
HP:0001336 | HP:0012462 | Chin myoclonus | 1 | CNTN2 CL E G H | 6900 | 86814 | | | | ORPHA | 1 | | 676 | 2172 | 190197 |
HP:0001336 | HP:0025097 | Eyelid myoclonus | 1 | CNTN2 CL E G H | 6900 | 86814 | | | | ORPHA | 1 | | 676 | 2172 | 190197 |
HP:0001336 | HP:0003739 | Myoclonic spasms | 1 | CNTN2 CL E G H | 6900 | 86814 | | | | ORPHA | 1 | | 676 | 2172 | 190197 |
HP:0001336 | HP:0012323 | Sleep myoclonus | 1 | CNTN2 CL E G H | 6900 | 86814 | | | | ORPHA | 1 | | 676 | 2172 | 190197 |
HP:0001336 | HP:0025357 | Erratic myoclonus | 1 | CNTN2 CL E G H | 6900 | 86814 | | | | ORPHA | 1 | | 676 | 2172 | 190197 |
HP:0001336 | HP:0007000 | Morning myoclonic jerks | 1 | CNTN2 CL E G H | 6900 | 86814 | | | | ORPHA | 1 | | 676 | 2172 | 190197 |
HP:0001336 | HP:0031986 | Polyminimyoclonus | 1 | CNTN2 CL E G H | 6900 | 86814 | | | | ORPHA | 1 | | 676 | 2172 | 190197 |
HP:0001336 | HP:0010530 | Palatal myoclonus | 1 | CNTN2 CL E G H | 6900 | 86814 | | | | ORPHA | 1 | | 676 | 2172 | 190197 |
HP:0001336 | HP:0040148 | Cortical myoclonus | 1 | CNTN2 CL E G H | 6900 | 86814 | | | | ORPHA | 1 | | 676 | 2172 | 190197 |
HP:0001336 | HP:0045084 | Limb myoclonus | 1 | CNTN2 CL E G H | 6900 | 86814 | | | | ORPHA | 1 | | 676 | 2172 | 190197 |
HP:0001336 | HP:0025097 | Eyelid myoclonus | 1 | CPLX1 CL E G H | 10815 | 352582 | | | | ORPHA | 1 | | 206 | 2309 | 605032 |
HP:0001336 | HP:0010531 | Spinal myoclonus | 1 | CPLX1 CL E G H | 10815 | 352582 | | | | ORPHA | 1 | | 206 | 2309 | 605032 |
HP:0001336 | HP:0012462 | Chin myoclonus | 1 | CPLX1 CL E G H | 10815 | 352582 | | | | ORPHA | 1 | | 206 | 2309 | 605032 |
HP:0001336 | HP:0003739 | Myoclonic spasms | 1 | CPLX1 CL E G H | 10815 | 352582 | | | | ORPHA | 1 | | 206 | 2309 | 605032 |
HP:0001336 | HP:0012323 | Sleep myoclonus | 1 | CPLX1 CL E G H | 10815 | 352582 | | | | ORPHA | 1 | | 206 | 2309 | 605032 |
HP:0001336 | HP:0025357 | Erratic myoclonus | 1 | CPLX1 CL E G H | 10815 | 352582 | | | | ORPHA | 1 | | 206 | 2309 | 605032 |
HP:0001336 | HP:0007000 | Morning myoclonic jerks | 1 | CPLX1 CL E G H | 10815 | 352582 | | | | ORPHA | 1 | | 206 | 2309 | 605032 |
HP:0001336 | HP:0031986 | Polyminimyoclonus | 1 | CPLX1 CL E G H | 10815 | 352582 | | | | ORPHA | 1 | | 206 | 2309 | 605032 |
HP:0001336 | HP:0045084 | Limb myoclonus | 1 | CPLX1 CL E G H | 10815 | 352582 | | | | ORPHA | 1 | | 206 | 2309 | 605032 |
HP:0001336 | HP:0010530 | Palatal myoclonus | 1 | CPLX1 CL E G H | 10815 | 352582 | | | | ORPHA | 1 | | 206 | 2309 | 605032 |
HP:0001336 | HP:0040148 | Cortical myoclonus | 1 | CPLX1 CL E G H | 10815 | 352582 | | | | ORPHA | 1 | | 206 | 2309 | 605032 |
HP:0001336 | HP:0010531 | Spinal myoclonus | 1 | CSTB CL E G H | 1476 | 254800 | Unverricht-Lundborg syndrome | 254800 | C0751785 | OMIM | 1 | | 261 | 2482 | 601145 |
HP:0001336 | HP:0012462 | Chin myoclonus | 1 | CSTB CL E G H | 1476 | 254800 | Unverricht-Lundborg syndrome | 254800 | C0751785 | OMIM | 1 | | 261 | 2482 | 601145 |
HP:0001336 | HP:0025097 | Eyelid myoclonus | 1 | CSTB CL E G H | 1476 | 254800 | Unverricht-Lundborg syndrome | 254800 | C0751785 | OMIM | 1 | | 261 | 2482 | 601145 |
HP:0001336 | HP:0003739 | Myoclonic spasms | 1 | CSTB CL E G H | 1476 | 254800 | Unverricht-Lundborg syndrome | 254800 | C0751785 | OMIM | 1 | | 261 | 2482 | 601145 |
HP:0001336 | HP:0012323 | Sleep myoclonus | 1 | CSTB CL E G H | 1476 | 254800 | Unverricht-Lundborg syndrome | 254800 | C0751785 | OMIM | 1 | | 261 | 2482 | 601145 |
HP:0001336 | HP:0025357 | Erratic myoclonus | 1 | CSTB CL E G H | 1476 | 254800 | Unverricht-Lundborg syndrome | 254800 | C0751785 | OMIM | 1 | | 261 | 2482 | 601145 |
HP:0001336 | HP:0007000 | Morning myoclonic jerks | 1 | CSTB CL E G H | 1476 | 254800 | Unverricht-Lundborg syndrome | 254800 | C0751785 | OMIM | 1 | | 261 | 2482 | 601145 |
HP:0001336 | HP:0031986 | Polyminimyoclonus | 1 | CSTB CL E G H | 1476 | 254800 | Unverricht-Lundborg syndrome | 254800 | C0751785 | OMIM | 1 | | 261 | 2482 | 601145 |
HP:0001336 | HP:0045084 | Limb myoclonus | 1 | CSTB CL E G H | 1476 | 254800 | Unverricht-Lundborg syndrome | 254800 | C0751785 | OMIM | 1 | | 261 | 2482 | 601145 |
HP:0001336 | HP:0010530 | Palatal myoclonus | 1 | CSTB CL E G H | 1476 | 254800 | Unverricht-Lundborg syndrome | 254800 | C0751785 | OMIM | 1 | | 261 | 2482 | 601145 |
HP:0001336 | HP:0040148 | Cortical myoclonus | 1 | CSTB CL E G H | 1476 | 254800 | Unverricht-Lundborg syndrome | 254800 | C0751785 | OMIM | 1 | | 261 | 2482 | 601145 |
HP:0001336 | HP:0031986 | Polyminimyoclonus | 1 | CTNND2 CL E G H | 1501 | 86814 | | | | ORPHA | 1 | | 351 | 2516 | 604275 |
HP:0001336 | HP:0007000 | Morning myoclonic jerks | 1 | CTNND2 CL E G H | 1501 | 86814 | | | | ORPHA | 1 | | 351 | 2516 | 604275 |
HP:0001336 | HP:0040148 | Cortical myoclonus | 1 | CTNND2 CL E G H | 1501 | 86814 | | | | ORPHA | 1 | | 351 | 2516 | 604275 |
HP:0001336 | HP:0045084 | Limb myoclonus | 1 | CTNND2 CL E G H | 1501 | 86814 | | | | ORPHA | 1 | | 351 | 2516 | 604275 |
HP:0001336 | HP:0010530 | Palatal myoclonus | 1 | CTNND2 CL E G H | 1501 | 86814 | | | | ORPHA | 1 | | 351 | 2516 | 604275 |
HP:0001336 | HP:0010531 | Spinal myoclonus | 1 | CTNND2 CL E G H | 1501 | 86814 | | | | ORPHA | 1 | | 351 | 2516 | 604275 |
HP:0001336 | HP:0012462 | Chin myoclonus | 1 | CTNND2 CL E G H | 1501 | 86814 | | | | ORPHA | 1 | | 351 | 2516 | 604275 |
HP:0001336 | HP:0025097 | Eyelid myoclonus | 1 | CTNND2 CL E G H | 1501 | 86814 | | | | ORPHA | 1 | | 351 | 2516 | 604275 |
HP:0001336 | HP:0012323 | Sleep myoclonus | 1 | CTNND2 CL E G H | 1501 | 86814 | | | | ORPHA | 1 | | 351 | 2516 | 604275 |
HP:0001336 | HP:0025357 | Erratic myoclonus | 1 | CTNND2 CL E G H | 1501 | 86814 | | | | ORPHA | 1 | | 351 | 2516 | 604275 |
HP:0001336 | HP:0003739 | Myoclonic spasms | 1 | CTNND2 CL E G H | 1501 | 86814 | | | | ORPHA | 1 | | 351 | 2516 | 604275 |
HP:0001336 | HP:0012462 | Chin myoclonus | 1 | CTSF CL E G H | 8722 | 615362 | Ceroid lipofuscinosis, neuronal, 13 | 615362 | C3715049 | OMIM | 1 | | 218 | 2531 | 603539 |
HP:0001336 | HP:0025097 | Eyelid myoclonus | 1 | CTSF CL E G H | 8722 | 615362 | Ceroid lipofuscinosis, neuronal, 13 | 615362 | C3715049 | OMIM | 1 | | 218 | 2531 | 603539 |
HP:0001336 | HP:0010531 | Spinal myoclonus | 1 | CTSF CL E G H | 8722 | 615362 | Ceroid lipofuscinosis, neuronal, 13 | 615362 | C3715049 | OMIM | 1 | | 218 | 2531 | 603539 |
HP:0001336 | HP:0025357 | Erratic myoclonus | 1 | CTSF CL E G H | 8722 | 615362 | Ceroid lipofuscinosis, neuronal, 13 | 615362 | C3715049 | OMIM | 1 | | 218 | 2531 | 603539 |
HP:0001336 | HP:0003739 | Myoclonic spasms | 1 | CTSF CL E G H | 8722 | 615362 | Ceroid lipofuscinosis, neuronal, 13 | 615362 | C3715049 | OMIM | 1 | | 218 | 2531 | 603539 |
HP:0001336 | HP:0012323 | Sleep myoclonus | 1 | CTSF CL E G H | 8722 | 615362 | Ceroid lipofuscinosis, neuronal, 13 | 615362 | C3715049 | OMIM | 1 | | 218 | 2531 | 603539 |
HP:0001336 | HP:0007000 | Morning myoclonic jerks | 1 | CTSF CL E G H | 8722 | 615362 | Ceroid lipofuscinosis, neuronal, 13 | 615362 | C3715049 | OMIM | 1 | | 218 | 2531 | 603539 |
HP:0001336 | HP:0031986 | Polyminimyoclonus | 1 | CTSF CL E G H | 8722 | 615362 | Ceroid lipofuscinosis, neuronal, 13 | 615362 | C3715049 | OMIM | 1 | | 218 | 2531 | 603539 |
HP:0001336 | HP:0040148 | Cortical myoclonus | 1 | CTSF CL E G H | 8722 | 615362 | Ceroid lipofuscinosis, neuronal, 13 | 615362 | C3715049 | OMIM | 1 | | 218 | 2531 | 603539 |
HP:0001336 | HP:0045084 | Limb myoclonus | 1 | CTSF CL E G H | 8722 | 615362 | Ceroid lipofuscinosis, neuronal, 13 | 615362 | C3715049 | OMIM | 1 | | 218 | 2531 | 603539 |
HP:0001336 | HP:0010530 | Palatal myoclonus | 1 | CTSF CL E G H | 8722 | 615362 | Ceroid lipofuscinosis, neuronal, 13 | 615362 | C3715049 | OMIM | 1 | | 218 | 2531 | 603539 |
HP:0001336 | HP:0012462 | Chin myoclonus | 1 | CUX2 CL E G H | 23316 | 2382 | | | | ORPHA | 1 | | 227 | 19347 | 610648 |
HP:0001336 | HP:0025097 | Eyelid myoclonus | 1 | CUX2 CL E G H | 23316 | 2382 | | | | ORPHA | 1 | | 227 | 19347 | 610648 |
HP:0001336 | HP:0010531 | Spinal myoclonus | 1 | CUX2 CL E G H | 23316 | 2382 | | | | ORPHA | 1 | | 227 | 19347 | 610648 |
HP:0001336 | HP:0025357 | Erratic myoclonus | 1 | CUX2 CL E G H | 23316 | 2382 | | | | ORPHA | 1 | | 227 | 19347 | 610648 |
HP:0001336 | HP:0003739 | Myoclonic spasms | 1 | CUX2 CL E G H | 23316 | 2382 | | | | ORPHA | 1 | | 227 | 19347 | 610648 |
HP:0001336 | HP:0012323 | Sleep myoclonus | 1 | CUX2 CL E G H | 23316 | 2382 | | | | ORPHA | 1 | | 227 | 19347 | 610648 |
HP:0001336 | HP:0007000 | Morning myoclonic jerks | 1 | CUX2 CL E G H | 23316 | 2382 | | | | ORPHA | 1 | | 227 | 19347 | 610648 |
HP:0001336 | HP:0031986 | Polyminimyoclonus | 1 | CUX2 CL E G H | 23316 | 2382 | | | | ORPHA | 1 | | 227 | 19347 | 610648 |
HP:0001336 | HP:0040148 | Cortical myoclonus | 1 | CUX2 CL E G H | 23316 | 2382 | | | | ORPHA | 1 | | 227 | 19347 | 610648 |
HP:0001336 | HP:0045084 | Limb myoclonus | 1 | CUX2 CL E G H | 23316 | 2382 | | | | ORPHA | 1 | | 227 | 19347 | 610648 |
HP:0001336 | HP:0010530 | Palatal myoclonus | 1 | CUX2 CL E G H | 23316 | 2382 | | | | ORPHA | 1 | | 227 | 19347 | 610648 |
HP:0001336 | HP:0040148 | Cortical myoclonus | 1 | CYP27A1 CL E G H | 1593 | 909 | | | | ORPHA | 1 | | 940 | 2605 | 606530 |
HP:0001336 | HP:0045084 | Limb myoclonus | 1 | CYP27A1 CL E G H | 1593 | 909 | | | | ORPHA | 1 | | 940 | 2605 | 606530 |
HP:0001336 | HP:0010530 | Palatal myoclonus | 1 | CYP27A1 CL E G H | 1593 | 909 | | | | ORPHA | 1 | | 940 | 2605 | 606530 |
HP:0001336 | HP:0010531 | Spinal myoclonus | 1 | CYP27A1 CL E G H | 1593 | 909 | | | | ORPHA | 1 | | 940 | 2605 | 606530 |
HP:0001336 | HP:0012462 | Chin myoclonus | 1 | CYP27A1 CL E G H | 1593 | 909 | | | | ORPHA | 1 | | 940 | 2605 | 606530 |
HP:0001336 | HP:0025097 | Eyelid myoclonus | 1 | CYP27A1 CL E G H | 1593 | 909 | | | | ORPHA | 1 | | 940 | 2605 | 606530 |
HP:0001336 | HP:0025357 | Erratic myoclonus | 1 | CYP27A1 CL E G H | 1593 | 909 | | | | ORPHA | 1 | | 940 | 2605 | 606530 |
HP:0001336 | HP:0003739 | Myoclonic spasms | 1 | CYP27A1 CL E G H | 1593 | 909 | | | | ORPHA | 1 | | 940 | 2605 | 606530 |
HP:0001336 | HP:0012323 | Sleep myoclonus | 1 | CYP27A1 CL E G H | 1593 | 909 | | | | ORPHA | 1 | | 940 | 2605 | 606530 |
HP:0001336 | HP:0007000 | Morning myoclonic jerks | 1 | CYP27A1 CL E G H | 1593 | 909 | | | | ORPHA | 1 | | 940 | 2605 | 606530 |
HP:0001336 | HP:0031986 | Polyminimyoclonus | 1 | CYP27A1 CL E G H | 1593 | 909 | | | | ORPHA | 1 | | 940 | 2605 | 606530 |
HP:0001336 | HP:0045084 | Limb myoclonus | 1 | DAB1 CL E G H | 1600 | 363710 | | | | ORPHA | 1 | | 107 | 2661 | 603448 |
HP:0001336 | HP:0010530 | Palatal myoclonus | 1 | DAB1 CL E G H | 1600 | 363710 | | | | ORPHA | 1 | | 107 | 2661 | 603448 |
HP:0001336 | HP:0040148 | Cortical myoclonus | 1 | DAB1 CL E G H | 1600 | 363710 | | | | ORPHA | 1 | | 107 | 2661 | 603448 |
HP:0001336 | HP:0025097 | Eyelid myoclonus | 1 | DAB1 CL E G H | 1600 | 363710 | | | | ORPHA | 1 | | 107 | 2661 | 603448 |
HP:0001336 | HP:0010531 | Spinal myoclonus | 1 | DAB1 CL E G H | 1600 | 363710 | | | | ORPHA | 1 | | 107 | 2661 | 603448 |
HP:0001336 | HP:0012462 | Chin myoclonus | 1 | DAB1 CL E G H | 1600 | 363710 | | | | ORPHA | 1 | | 107 | 2661 | 603448 |
HP:0001336 | HP:0003739 | Myoclonic spasms | 1 | DAB1 CL E G H | 1600 | 363710 | | | | ORPHA | 1 | | 107 | 2661 | 603448 |
HP:0001336 | HP:0012323 | Sleep myoclonus | 1 | DAB1 CL E G H | 1600 | 363710 | | | | ORPHA | 1 | | 107 | 2661 | 603448 |
HP:0001336 | HP:0025357 | Erratic myoclonus | 1 | DAB1 CL E G H | 1600 | 363710 | | | | ORPHA | 1 | | 107 | 2661 | 603448 |
HP:0001336 | HP:0007000 | Morning myoclonic jerks | 1 | DAB1 CL E G H | 1600 | 363710 | | | | ORPHA | 1 | | 107 | 2661 | 603448 |
HP:0001336 | HP:0031986 | Polyminimyoclonus | 1 | DAB1 CL E G H | 1600 | 363710 | | | | ORPHA | 1 | | 107 | 2661 | 603448 |
HP:0001336 | HP:0007000 | Morning myoclonic jerks | 1 | DDC CL E G H | 1644 | 608643 | Deficiency of aromatic-L-amino-acid decarboxylase | 608643 | C1291564 | OMIM | 1 | | 503 | 2719 | 107930 |
HP:0001336 | HP:0031986 | Polyminimyoclonus | 1 | DDC CL E G H | 1644 | 608643 | Deficiency of aromatic-L-amino-acid decarboxylase | 608643 | C1291564 | OMIM | 1 | | 503 | 2719 | 107930 |
HP:0001336 | HP:0040148 | Cortical myoclonus | 1 | DDC CL E G H | 1644 | 608643 | Deficiency of aromatic-L-amino-acid decarboxylase | 608643 | C1291564 | OMIM | 1 | | 503 | 2719 | 107930 |
HP:0001336 | HP:0045084 | Limb myoclonus | 1 | DDC CL E G H | 1644 | 608643 | Deficiency of aromatic-L-amino-acid decarboxylase | 608643 | C1291564 | OMIM | 1 | | 503 | 2719 | 107930 |
HP:0001336 | HP:0010530 | Palatal myoclonus | 1 | DDC CL E G H | 1644 | 608643 | Deficiency of aromatic-L-amino-acid decarboxylase | 608643 | C1291564 | OMIM | 1 | | 503 | 2719 | 107930 |
HP:0001336 | HP:0012462 | Chin myoclonus | 1 | DDC CL E G H | 1644 | 608643 | Deficiency of aromatic-L-amino-acid decarboxylase | 608643 | C1291564 | OMIM | 1 | | 503 | 2719 | 107930 |
HP:0001336 | HP:0025097 | Eyelid myoclonus | 1 | DDC CL E G H | 1644 | 608643 | Deficiency of aromatic-L-amino-acid decarboxylase | 608643 | C1291564 | OMIM | 1 | | 503 | 2719 | 107930 |
HP:0001336 | HP:0010531 | Spinal myoclonus | 1 | DDC CL E G H | 1644 | 608643 | Deficiency of aromatic-L-amino-acid decarboxylase | 608643 | C1291564 | OMIM | 1 | | 503 | 2719 | 107930 |
HP:0001336 | HP:0025357 | Erratic myoclonus | 1 | DDC CL E G H | 1644 | 608643 | Deficiency of aromatic-L-amino-acid decarboxylase | 608643 | C1291564 | OMIM | 1 | | 503 | 2719 | 107930 |
HP:0001336 | HP:0003739 | Myoclonic spasms | 1 | DDC CL E G H | 1644 | 608643 | Deficiency of aromatic-L-amino-acid decarboxylase | 608643 | C1291564 | OMIM | 1 | | 503 | 2719 | 107930 |
HP:0001336 | HP:0012323 | Sleep myoclonus | 1 | DDC CL E G H | 1644 | 608643 | Deficiency of aromatic-L-amino-acid decarboxylase | 608643 | C1291564 | OMIM | 1 | | 503 | 2719 | 107930 |
HP:0001336 | HP:0045084 | Limb myoclonus | 1 | DENND5A CL E G H | 23258 | 617281 | Epileptic encephalopathy, early infantile, 49 | 617281 | C4310635 | OMIM | 1 | | 463 | 19344 | 617278 |
HP:0001336 | HP:0010530 | Palatal myoclonus | 1 | DENND5A CL E G H | 23258 | 617281 | Epileptic encephalopathy, early infantile, 49 | 617281 | C4310635 | OMIM | 1 | | 463 | 19344 | 617278 |
HP:0001336 | HP:0025097 | Eyelid myoclonus | 1 | DENND5A CL E G H | 23258 | 617281 | Epileptic encephalopathy, early infantile, 49 | 617281 | C4310635 | OMIM | 1 | | 463 | 19344 | 617278 |
HP:0001336 | HP:0012462 | Chin myoclonus | 1 | DENND5A CL E G H | 23258 | 617281 | Epileptic encephalopathy, early infantile, 49 | 617281 | C4310635 | OMIM | 1 | | 463 | 19344 | 617278 |
HP:0001336 | HP:0010531 | Spinal myoclonus | 1 | DENND5A CL E G H | 23258 | 617281 | Epileptic encephalopathy, early infantile, 49 | 617281 | C4310635 | OMIM | 1 | | 463 | 19344 | 617278 |
HP:0001336 | HP:0025357 | Erratic myoclonus | 1 | DENND5A CL E G H | 23258 | 617281 | Epileptic encephalopathy, early infantile, 49 | 617281 | C4310635 | OMIM | 1 | | 463 | 19344 | 617278 |
HP:0001336 | HP:0003739 | Myoclonic spasms | 1 | DENND5A CL E G H | 23258 | 617281 | Epileptic encephalopathy, early infantile, 49 | 617281 | C4310635 | OMIM | 1 | | 463 | 19344 | 617278 |
HP:0001336 | HP:0012323 | Sleep myoclonus | 1 | DENND5A CL E G H | 23258 | 617281 | Epileptic encephalopathy, early infantile, 49 | 617281 | C4310635 | OMIM | 1 | | 463 | 19344 | 617278 |
HP:0001336 | HP:0007000 | Morning myoclonic jerks | 1 | DENND5A CL E G H | 23258 | 617281 | Epileptic encephalopathy, early infantile, 49 | 617281 | C4310635 | OMIM | 1 | | 463 | 19344 | 617278 |
HP:0001336 | HP:0031986 | Polyminimyoclonus | 1 | DENND5A CL E G H | 23258 | 617281 | Epileptic encephalopathy, early infantile, 49 | 617281 | C4310635 | OMIM | 1 | | 463 | 19344 | 617278 |
HP:0001336 | HP:0040148 | Cortical myoclonus | 1 | DENND5A CL E G H | 23258 | 617281 | Epileptic encephalopathy, early infantile, 49 | 617281 | C4310635 | OMIM | 1 | | 463 | 19344 | 617278 |
HP:0001336 | HP:0010531 | Spinal myoclonus | 1 | DNAJC5 CL E G H | 80331 | 162350 | Ceroid lipofuscinosis neuronal 4B autosomal dominant | 162350 | C1834207 | OMIM | 1 | | 428 | 16235 | 611203 |
HP:0001336 | HP:0012462 | Chin myoclonus | 1 | DNAJC5 CL E G H | 80331 | 162350 | Ceroid lipofuscinosis neuronal 4B autosomal dominant | 162350 | C1834207 | OMIM | 1 | | 428 | 16235 | 611203 |
HP:0001336 | HP:0025097 | Eyelid myoclonus | 1 | DNAJC5 CL E G H | 80331 | 162350 | Ceroid lipofuscinosis neuronal 4B autosomal dominant | 162350 | C1834207 | OMIM | 1 | | 428 | 16235 | 611203 |
HP:0001336 | HP:0003739 | Myoclonic spasms | 1 | DNAJC5 CL E G H | 80331 | 162350 | Ceroid lipofuscinosis neuronal 4B autosomal dominant | 162350 | C1834207 | OMIM | 1 | | 428 | 16235 | 611203 |
HP:0001336 | HP:0012323 | Sleep myoclonus | 1 | DNAJC5 CL E G H | 80331 | 162350 | Ceroid lipofuscinosis neuronal 4B autosomal dominant | 162350 | C1834207 | OMIM | 1 | | 428 | 16235 | 611203 |
HP:0001336 | HP:0025357 | Erratic myoclonus | 1 | DNAJC5 CL E G H | 80331 | 162350 | Ceroid lipofuscinosis neuronal 4B autosomal dominant | 162350 | C1834207 | OMIM | 1 | | 428 | 16235 | 611203 |
HP:0001336 | HP:0007000 | Morning myoclonic jerks | 1 | DNAJC5 CL E G H | 80331 | 162350 | Ceroid lipofuscinosis neuronal 4B autosomal dominant | 162350 | C1834207 | OMIM | 1 | | 428 | 16235 | 611203 |
HP:0001336 | HP:0031986 | Polyminimyoclonus | 1 | DNAJC5 CL E G H | 80331 | 162350 | Ceroid lipofuscinosis neuronal 4B autosomal dominant | 162350 | C1834207 | OMIM | 1 | | 428 | 16235 | 611203 |
HP:0001336 | HP:0010530 | Palatal myoclonus | 1 | DNAJC5 CL E G H | 80331 | 162350 | Ceroid lipofuscinosis neuronal 4B autosomal dominant | 162350 | C1834207 | OMIM | 1 | | 428 | 16235 | 611203 |
HP:0001336 | HP:0040148 | Cortical myoclonus | 1 | DNAJC5 CL E G H | 80331 | 162350 | Ceroid lipofuscinosis neuronal 4B autosomal dominant | 162350 | C1834207 | OMIM | 1 | | 428 | 16235 | 611203 |
HP:0001336 | HP:0045084 | Limb myoclonus | 1 | DNAJC5 CL E G H | 80331 | 162350 | Ceroid lipofuscinosis neuronal 4B autosomal dominant | 162350 | C1834207 | OMIM | 1 | | 428 | 16235 | 611203 |
HP:0001336 | HP:0007000 | Morning myoclonic jerks | 1 | DNM1 CL E G H | 1759 | 2382 | | | | ORPHA | 1 | | 765 | 2972 | 602377 |
HP:0001336 | HP:0031986 | Polyminimyoclonus | 1 | DNM1 CL E G H | 1759 | 2382 | | | | ORPHA | 1 | | 765 | 2972 | 602377 |
HP:0001336 | HP:0045084 | Limb myoclonus | 1 | DNM1 CL E G H | 1759 | 2382 | | | | ORPHA | 1 | | 765 | 2972 | 602377 |
HP:0001336 | HP:0010530 | Palatal myoclonus | 1 | DNM1 CL E G H | 1759 | 2382 | | | | ORPHA | 1 | | 765 | 2972 | 602377 |
HP:0001336 | HP:0040148 | Cortical myoclonus | 1 | DNM1 CL E G H | 1759 | 2382 | | | | ORPHA | 1 | | 765 | 2972 | 602377 |
HP:0001336 | HP:0025097 | Eyelid myoclonus | 1 | DNM1 CL E G H | 1759 | 2382 | | | | ORPHA | 1 | | 765 | 2972 | 602377 |
HP:0001336 | HP:0010531 | Spinal myoclonus | 1 | DNM1 CL E G H | 1759 | 2382 | | | | ORPHA | 1 | | 765 | 2972 | 602377 |
HP:0001336 | HP:0012462 | Chin myoclonus | 1 | DNM1 CL E G H | 1759 | 2382 | | | | ORPHA | 1 | | 765 | 2972 | 602377 |
HP:0001336 | HP:0025357 | Erratic myoclonus | 1 | DNM1 CL E G H | 1759 | 2382 | | | | ORPHA | 1 | | 765 | 2972 | 602377 |
HP:0001336 | HP:0003739 | Myoclonic spasms | 1 | DNM1 CL E G H | 1759 | 2382 | | | | ORPHA | 1 | | 765 | 2972 | 602377 |
HP:0001336 | HP:0012323 | Sleep myoclonus | 1 | DNM1 CL E G H | 1759 | 2382 | | | | ORPHA | 1 | | 765 | 2972 | 602377 |
HP:0001336 | HP:0012462 | Chin myoclonus | 1 | EPM2A CL E G H | 7957 | 254780 | Lafora disease | 254780 | C0751783 | OMIM | 1 | | 416 | 3413 | 607566 |
HP:0001336 | HP:0025097 | Eyelid myoclonus | 1 | EPM2A CL E G H | 7957 | 254780 | Lafora disease | 254780 | C0751783 | OMIM | 1 | | 416 | 3413 | 607566 |
HP:0001336 | HP:0010531 | Spinal myoclonus | 1 | EPM2A CL E G H | 7957 | 254780 | Lafora disease | 254780 | C0751783 | OMIM | 1 | | 416 | 3413 | 607566 |
HP:0001336 | HP:0025357 | Erratic myoclonus | 1 | EPM2A CL E G H | 7957 | 254780 | Lafora disease | 254780 | C0751783 | OMIM | 1 | | 416 | 3413 | 607566 |
HP:0001336 | HP:0003739 | Myoclonic spasms | 1 | EPM2A CL E G H | 7957 | 254780 | Lafora disease | 254780 | C0751783 | OMIM | 1 | | 416 | 3413 | 607566 |
HP:0001336 | HP:0012323 | Sleep myoclonus | 1 | EPM2A CL E G H | 7957 | 254780 | Lafora disease | 254780 | C0751783 | OMIM | 1 | | 416 | 3413 | 607566 |
HP:0001336 | HP:0007000 | Morning myoclonic jerks | 1 | EPM2A CL E G H | 7957 | 254780 | Lafora disease | 254780 | C0751783 | OMIM | 1 | | 416 | 3413 | 607566 |
HP:0001336 | HP:0031986 | Polyminimyoclonus | 1 | EPM2A CL E G H | 7957 | 254780 | Lafora disease | 254780 | C0751783 | OMIM | 1 | | 416 | 3413 | 607566 |
HP:0001336 | HP:0040148 | Cortical myoclonus | 1 | EPM2A CL E G H | 7957 | 254780 | Lafora disease | 254780 | C0751783 | OMIM | 1 | | 416 | 3413 | 607566 |
HP:0001336 | HP:0045084 | Limb myoclonus | 1 | EPM2A CL E G H | 7957 | 254780 | Lafora disease | 254780 | C0751783 | OMIM | 1 | | 416 | 3413 | 607566 |
HP:0001336 | HP:0010530 | Palatal myoclonus | 1 | EPM2A CL E G H | 7957 | 254780 | Lafora disease | 254780 | C0751783 | OMIM | 1 | | 416 | 3413 | 607566 |
HP:0001336 | HP:0012462 | Chin myoclonus | 1 | FARS2 CL E G H | 10667 | 614946 | Combined oxidative phosphorylation deficiency 14 | 614946 | C3554168 | OMIM | 1 | | 564 | 21062 | 611592 |
HP:0001336 | HP:0025097 | Eyelid myoclonus | 1 | FARS2 CL E G H | 10667 | 614946 | Combined oxidative phosphorylation deficiency 14 | 614946 | C3554168 | OMIM | 1 | | 564 | 21062 | 611592 |
HP:0001336 | HP:0010531 | Spinal myoclonus | 1 | FARS2 CL E G H | 10667 | 614946 | Combined oxidative phosphorylation deficiency 14 | 614946 | C3554168 | OMIM | 1 | | 564 | 21062 | 611592 |
HP:0001336 | HP:0025357 | Erratic myoclonus | 1 | FARS2 CL E G H | 10667 | 614946 | Combined oxidative phosphorylation deficiency 14 | 614946 | C3554168 | OMIM | 1 | | 564 | 21062 | 611592 |
HP:0001336 | HP:0003739 | Myoclonic spasms | 1 | FARS2 CL E G H | 10667 | 614946 | Combined oxidative phosphorylation deficiency 14 | 614946 | C3554168 | OMIM | 1 | | 564 | 21062 | 611592 |
HP:0001336 | HP:0012323 | Sleep myoclonus | 1 | FARS2 CL E G H | 10667 | 614946 | Combined oxidative phosphorylation deficiency 14 | 614946 | C3554168 | OMIM | 1 | | 564 | 21062 | 611592 |
HP:0001336 | HP:0007000 | Morning myoclonic jerks | 1 | FARS2 CL E G H | 10667 | 614946 | Combined oxidative phosphorylation deficiency 14 | 614946 | C3554168 | OMIM | 1 | | 564 | 21062 | 611592 |
HP:0001336 | HP:0031986 | Polyminimyoclonus | 1 | FARS2 CL E G H | 10667 | 614946 | Combined oxidative phosphorylation deficiency 14 | 614946 | C3554168 | OMIM | 1 | | 564 | 21062 | 611592 |
HP:0001336 | HP:0040148 | Cortical myoclonus | 1 | FARS2 CL E G H | 10667 | 614946 | Combined oxidative phosphorylation deficiency 14 | 614946 | C3554168 | OMIM | 1 | | 564 | 21062 | 611592 |
HP:0001336 | HP:0045084 | Limb myoclonus | 1 | FARS2 CL E G H | 10667 | 614946 | Combined oxidative phosphorylation deficiency 14 | 614946 | C3554168 | OMIM | 1 | | 564 | 21062 | 611592 |
HP:0001336 | HP:0010530 | Palatal myoclonus | 1 | FARS2 CL E G H | 10667 | 614946 | Combined oxidative phosphorylation deficiency 14 | 614946 | C3554168 | OMIM | 1 | | 564 | 21062 | 611592 |
HP:0001336 | HP:0007000 | Morning myoclonic jerks | 1 | FBXO7 CL E G H | 25793 | 171695 | | | | ORPHA | 1 | | 243 | 13586 | 605648 |
HP:0001336 | HP:0031986 | Polyminimyoclonus | 1 | FBXO7 CL E G H | 25793 | 171695 | | | | ORPHA | 1 | | 243 | 13586 | 605648 |
HP:0001336 | HP:0040148 | Cortical myoclonus | 1 | FBXO7 CL E G H | 25793 | 171695 | | | | ORPHA | 1 | | 243 | 13586 | 605648 |
HP:0001336 | HP:0045084 | Limb myoclonus | 1 | FBXO7 CL E G H | 25793 | 171695 | | | | ORPHA | 1 | | 243 | 13586 | 605648 |
HP:0001336 | HP:0010530 | Palatal myoclonus | 1 | FBXO7 CL E G H | 25793 | 171695 | | | | ORPHA | 1 | | 243 | 13586 | 605648 |
HP:0001336 | HP:0012462 | Chin myoclonus | 1 | FBXO7 CL E G H | 25793 | 171695 | | | | ORPHA | 1 | | 243 | 13586 | 605648 |
HP:0001336 | HP:0025097 | Eyelid myoclonus | 1 | FBXO7 CL E G H | 25793 | 171695 | | | | ORPHA | 1 | | 243 | 13586 | 605648 |
HP:0001336 | HP:0010531 | Spinal myoclonus | 1 | FBXO7 CL E G H | 25793 | 171695 | | | | ORPHA | 1 | | 243 | 13586 | 605648 |
HP:0001336 | HP:0025357 | Erratic myoclonus | 1 | FBXO7 CL E G H | 25793 | 171695 | | | | ORPHA | 1 | | 243 | 13586 | 605648 |
HP:0001336 | HP:0003739 | Myoclonic spasms | 1 | FBXO7 CL E G H | 25793 | 171695 | | | | ORPHA | 1 | | 243 | 13586 | 605648 |
HP:0001336 | HP:0012323 | Sleep myoclonus | 1 | FBXO7 CL E G H | 25793 | 171695 | | | | ORPHA | 1 | | 243 | 13586 | 605648 |
HP:0001336 | HP:0025357 | Erratic myoclonus | 1 | FOXRED1 CL E G H | 55572 | 618241 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 19 | 618241 | | OMIM | 1 | | 323 | 26927 | 613622 |
HP:0001336 | HP:0003739 | Myoclonic spasms | 1 | FOXRED1 CL E G H | 55572 | 618241 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 19 | 618241 | | OMIM | 1 | | 323 | 26927 | 613622 |
HP:0001336 | HP:0012323 | Sleep myoclonus | 1 | FOXRED1 CL E G H | 55572 | 618241 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 19 | 618241 | | OMIM | 1 | | 323 | 26927 | 613622 |
HP:0001336 | HP:0007000 | Morning myoclonic jerks | 1 | FOXRED1 CL E G H | 55572 | 618241 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 19 | 618241 | | OMIM | 1 | | 323 | 26927 | 613622 |
HP:0001336 | HP:0031986 | Polyminimyoclonus | 1 | FOXRED1 CL E G H | 55572 | 618241 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 19 | 618241 | | OMIM | 1 | | 323 | 26927 | 613622 |
HP:0001336 | HP:0040148 | Cortical myoclonus | 1 | FOXRED1 CL E G H | 55572 | 618241 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 19 | 618241 | | OMIM | 1 | | 323 | 26927 | 613622 |
HP:0001336 | HP:0045084 | Limb myoclonus | 1 | FOXRED1 CL E G H | 55572 | 618241 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 19 | 618241 | | OMIM | 1 | | 323 | 26927 | 613622 |
HP:0001336 | HP:0010530 | Palatal myoclonus | 1 | FOXRED1 CL E G H | 55572 | 618241 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 19 | 618241 | | OMIM | 1 | | 323 | 26927 | 613622 |
HP:0001336 | HP:0012462 | Chin myoclonus | 1 | FOXRED1 CL E G H | 55572 | 618241 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 19 | 618241 | | OMIM | 1 | | 323 | 26927 | 613622 |
HP:0001336 | HP:0025097 | Eyelid myoclonus | 1 | FOXRED1 CL E G H | 55572 | 618241 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 19 | 618241 | | OMIM | 1 | | 323 | 26927 | 613622 |
HP:0001336 | HP:0010531 | Spinal myoclonus | 1 | FOXRED1 CL E G H | 55572 | 618241 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 19 | 618241 | | OMIM | 1 | | 323 | 26927 | 613622 |
HP:0001336 | HP:0031986 | Polyminimyoclonus | 1 | FRRS1L CL E G H | 23732 | 616981 | Epileptic encephalopathy, early infantile, 37 | 616981 | C4310770 | OMIM | 1 | | 402 | 1362 | 604574 |
HP:0001336 | HP:0007000 | Morning myoclonic jerks | 1 | FRRS1L CL E G H | 23732 | 616981 | Epileptic encephalopathy, early infantile, 37 | 616981 | C4310770 | OMIM | 1 | | 402 | 1362 | 604574 |
HP:0001336 | HP:0010530 | Palatal myoclonus | 1 | FRRS1L CL E G H | 23732 | 616981 | Epileptic encephalopathy, early infantile, 37 | 616981 | C4310770 | OMIM | 1 | | 402 | 1362 | 604574 |
HP:0001336 | HP:0040148 | Cortical myoclonus | 1 | FRRS1L CL E G H | 23732 | 616981 | Epileptic encephalopathy, early infantile, 37 | 616981 | C4310770 | OMIM | 1 | | 402 | 1362 | 604574 |
HP:0001336 | HP:0045084 | Limb myoclonus | 1 | FRRS1L CL E G H | 23732 | 616981 | Epileptic encephalopathy, early infantile, 37 | 616981 | C4310770 | OMIM | 1 | | 402 | 1362 | 604574 |
HP:0001336 | HP:0010531 | Spinal myoclonus | 1 | FRRS1L CL E G H | 23732 | 616981 | Epileptic encephalopathy, early infantile, 37 | 616981 | C4310770 | OMIM | 1 | | 402 | 1362 | 604574 |
HP:0001336 | HP:0012462 | Chin myoclonus | 1 | FRRS1L CL E G H | 23732 | 616981 | Epileptic encephalopathy, early infantile, 37 | 616981 | C4310770 | OMIM | 1 | | 402 | 1362 | 604574 |
HP:0001336 | HP:0025097 | Eyelid myoclonus | 1 | FRRS1L CL E G H | 23732 | 616981 | Epileptic encephalopathy, early infantile, 37 | 616981 | C4310770 | OMIM | 1 | | 402 | 1362 | 604574 |
HP:0001336 | HP:0012323 | Sleep myoclonus | 1 | FRRS1L CL E G H | 23732 | 616981 | Epileptic encephalopathy, early infantile, 37 | 616981 | C4310770 | OMIM | 1 | | 402 | 1362 | 604574 |
HP:0001336 | HP:0025357 | Erratic myoclonus | 1 | FRRS1L CL E G H | 23732 | 616981 | Epileptic encephalopathy, early infantile, 37 | 616981 | C4310770 | OMIM | 1 | | 402 | 1362 | 604574 |
HP:0001336 | HP:0003739 | Myoclonic spasms | 1 | FRRS1L CL E G H | 23732 | 616981 | Epileptic encephalopathy, early infantile, 37 | 616981 | C4310770 | OMIM | 1 | | 402 | 1362 | 604574 |
HP:0001336 | HP:0040148 | Cortical myoclonus | 1 | GABRB2 CL E G H | 2561 | 617829 | EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 2 | 617829 | CN757794 | OMIM | 1 | | 494 | 4082 | 600232 |
HP:0001336 | HP:0045084 | Limb myoclonus | 1 | GABRB2 CL E G H | 2561 | 617829 | EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 2 | 617829 | CN757794 | OMIM | 1 | | 494 | 4082 | 600232 |
HP:0001336 | HP:0010530 | Palatal myoclonus | 1 | GABRB2 CL E G H | 2561 | 617829 | EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 2 | 617829 | CN757794 | OMIM | 1 | | 494 | 4082 | 600232 |
HP:0001336 | HP:0012462 | Chin myoclonus | 1 | GABRB2 CL E G H | 2561 | 617829 | EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 2 | 617829 | CN757794 | OMIM | 1 | | 494 | 4082 | 600232 |
HP:0001336 | HP:0025097 | Eyelid myoclonus | 1 | GABRB2 CL E G H | 2561 | 617829 | EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 2 | 617829 | CN757794 | OMIM | 1 | | 494 | 4082 | 600232 |
HP:0001336 | HP:0010531 | Spinal myoclonus | 1 | GABRB2 CL E G H | 2561 | 617829 | EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 2 | 617829 | CN757794 | OMIM | 1 | | 494 | 4082 | 600232 |
HP:0001336 | HP:0025357 | Erratic myoclonus | 1 | GABRB2 CL E G H | 2561 | 617829 | EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 2 | 617829 | CN757794 | OMIM | 1 | | 494 | 4082 | 600232 |
HP:0001336 | HP:0003739 | Myoclonic spasms | 1 | GABRB2 CL E G H | 2561 | 617829 | EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 2 | 617829 | CN757794 | OMIM | 1 | | 494 | 4082 | 600232 |
HP:0001336 | HP:0012323 | Sleep myoclonus | 1 | GABRB2 CL E G H | 2561 | 617829 | EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 2 | 617829 | CN757794 | OMIM | 1 | | 494 | 4082 | 600232 |
HP:0001336 | HP:0007000 | Morning myoclonic jerks | 1 | GABRB2 CL E G H | 2561 | 617829 | EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 2 | 617829 | CN757794 | OMIM | 1 | | 494 | 4082 | 600232 |
HP:0001336 | HP:0031986 | Polyminimyoclonus | 1 | GABRB2 CL E G H | 2561 | 617829 | EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 2 | 617829 | CN757794 | OMIM | 1 | | 494 | 4082 | 600232 |
HP:0001336 | HP:0010531 | Spinal myoclonus | 1 | GABRB3 CL E G H | 2562 | 2382 | | | | ORPHA | 1 | | 838 | 4083 | 137192 |
HP:0001336 | HP:0012462 | Chin myoclonus | 1 | GABRB3 CL E G H | 2562 | 2382 | | | | ORPHA | 1 | | 838 | 4083 | 137192 |
HP:0001336 | HP:0025097 | Eyelid myoclonus | 1 | GABRB3 CL E G H | 2562 | 2382 | | | | ORPHA | 1 | | 838 | 4083 | 137192 |
HP:0001336 | HP:0003739 | Myoclonic spasms | 1 | GABRB3 CL E G H | 2562 | 2382 | | | | ORPHA | 1 | | 838 | 4083 | 137192 |
HP:0001336 | HP:0012323 | Sleep myoclonus | 1 | GABRB3 CL E G H | 2562 | 2382 | | | | ORPHA | 1 | | 838 | 4083 | 137192 |
HP:0001336 | HP:0025357 | Erratic myoclonus | 1 | GABRB3 CL E G H | 2562 | 2382 | | | | ORPHA | 1 | | 838 | 4083 | 137192 |
HP:0001336 | HP:0031986 | Polyminimyoclonus | 1 | GABRB3 CL E G H | 2562 | 2382 | | | | ORPHA | 1 | | 838 | 4083 | 137192 |
HP:0001336 | HP:0007000 | Morning myoclonic jerks | 1 | GABRB3 CL E G H | 2562 | 2382 | | | | ORPHA | 1 | | 838 | 4083 | 137192 |
HP:0001336 | HP:0010530 | Palatal myoclonus | 1 | GABRB3 CL E G H | 2562 | 2382 | | | | ORPHA | 1 | | 838 | 4083 | 137192 |
HP:0001336 | HP:0040148 | Cortical myoclonus | 1 | GABRB3 CL E G H | 2562 | 2382 | | | | ORPHA | 1 | | 838 | 4083 | 137192 |
HP:0001336 | HP:0045084 | Limb myoclonus | 1 | GABRB3 CL E G H | 2562 | 2382 | | | | ORPHA | 1 | | 838 | 4083 | 137192 |
HP:0001336 | HP:0007000 | Morning myoclonic jerks | 1 | GAMT CL E G H | 2593 | 612736 | Deficiency of guanidinoacetate methyltransferase | 612736 | C0574080 | OMIM | 1 | | 588 | 4136 | 601240 |
HP:0001336 | HP:0031986 | Polyminimyoclonus | 1 | GAMT CL E G H | 2593 | 612736 | Deficiency of guanidinoacetate methyltransferase | 612736 | C0574080 | OMIM | 1 | | 588 | 4136 | 601240 |
HP:0001336 | HP:0040148 | Cortical myoclonus | 1 | GAMT CL E G H | 2593 | 612736 | Deficiency of guanidinoacetate methyltransferase | 612736 | C0574080 | OMIM | 1 | | 588 | 4136 | 601240 |
HP:0001336 | HP:0045084 | Limb myoclonus | 1 | GAMT CL E G H | 2593 | 612736 | Deficiency of guanidinoacetate methyltransferase | 612736 | C0574080 | OMIM | 1 | | 588 | 4136 | 601240 |
HP:0001336 | HP:0010530 | Palatal myoclonus | 1 | GAMT CL E G H | 2593 | 612736 | Deficiency of guanidinoacetate methyltransferase | 612736 | C0574080 | OMIM | 1 | | 588 | 4136 | 601240 |
HP:0001336 | HP:0025097 | Eyelid myoclonus | 1 | GAMT CL E G H | 2593 | 612736 | Deficiency of guanidinoacetate methyltransferase | 612736 | C0574080 | OMIM | 1 | | 588 | 4136 | 601240 |
HP:0001336 | HP:0010531 | Spinal myoclonus | 1 | GAMT CL E G H | 2593 | 612736 | Deficiency of guanidinoacetate methyltransferase | 612736 | C0574080 | OMIM | 1 | | 588 | 4136 | 601240 |
HP:0001336 | HP:0012462 | Chin myoclonus | 1 | GAMT CL E G H | 2593 | 612736 | Deficiency of guanidinoacetate methyltransferase | 612736 | C0574080 | OMIM | 1 | | 588 | 4136 | 601240 |
HP:0001336 | HP:0025357 | Erratic myoclonus | 1 | GAMT CL E G H | 2593 | 612736 | Deficiency of guanidinoacetate methyltransferase | 612736 | C0574080 | OMIM | 1 | | 588 | 4136 | 601240 |
HP:0001336 | HP:0003739 | Myoclonic spasms | 1 | GAMT CL E G H | 2593 | 612736 | Deficiency of guanidinoacetate methyltransferase | 612736 | C0574080 | OMIM | 1 | | 588 | 4136 | 601240 |
HP:0001336 | HP:0012323 | Sleep myoclonus | 1 | GAMT CL E G H | 2593 | 612736 | Deficiency of guanidinoacetate methyltransferase | 612736 | C0574080 | OMIM | 1 | | 588 | 4136 | 601240 |
HP:0001336 | HP:0007000 | Morning myoclonic jerks | 1 | GBA CL E G H | 2629 | 231000 | Subacute neuronopathic Gaucher's disease | 231000 | C0268251 | OMIM | 1 | | | 4177 | 606463 |
HP:0001336 | HP:0031986 | Polyminimyoclonus | 1 | GBA CL E G H | 2629 | 231000 | Subacute neuronopathic Gaucher's disease | 231000 | C0268251 | OMIM | 1 | | | 4177 | 606463 |
HP:0001336 | HP:0040148 | Cortical myoclonus | 1 | GBA CL E G H | 2629 | 231000 | Subacute neuronopathic Gaucher's disease | 231000 | C0268251 | OMIM | 1 | | | 4177 | 606463 |
HP:0001336 | HP:0045084 | Limb myoclonus | 1 | GBA CL E G H | 2629 | 231000 | Subacute neuronopathic Gaucher's disease | 231000 | C0268251 | OMIM | 1 | | | 4177 | 606463 |
HP:0001336 | HP:0010530 | Palatal myoclonus | 1 | GBA CL E G H | 2629 | 231000 | Subacute neuronopathic Gaucher's disease | 231000 | C0268251 | OMIM | 1 | | | 4177 | 606463 |
HP:0001336 | HP:0025097 | Eyelid myoclonus | 1 | GBA CL E G H | 2629 | 231000 | Subacute neuronopathic Gaucher's disease | 231000 | C0268251 | OMIM | 1 | | | 4177 | 606463 |
HP:0001336 | HP:0010531 | Spinal myoclonus | 1 | GBA CL E G H | 2629 | 231000 | Subacute neuronopathic Gaucher's disease | 231000 | C0268251 | OMIM | 1 | | | 4177 | 606463 |
HP:0001336 | HP:0012462 | Chin myoclonus | 1 | GBA CL E G H | 2629 | 231000 | Subacute neuronopathic Gaucher's disease | 231000 | C0268251 | OMIM | 1 | | | 4177 | 606463 |
HP:0001336 | HP:0025357 | Erratic myoclonus | 1 | GBA CL E G H | 2629 | 231000 | Subacute neuronopathic Gaucher's disease | 231000 | C0268251 | OMIM | 1 | | | 4177 | 606463 |
HP:0001336 | HP:0003739 | Myoclonic spasms | 1 | GBA CL E G H | 2629 | 231000 | Subacute neuronopathic Gaucher's disease | 231000 | C0268251 | OMIM | 1 | | | 4177 | 606463 |
HP:0001336 | HP:0012323 | Sleep myoclonus | 1 | GBA CL E G H | 2629 | 231000 | Subacute neuronopathic Gaucher's disease | 231000 | C0268251 | OMIM | 1 | | | 4177 | 606463 |
HP:0001336 | HP:0012462 | Chin myoclonus | 1 | GCSH CL E G H | 2653 | 605899 | Non-ketotic hyperglycinemia | 605899 | C0751748 | OMIM | 1 | | 176 | 4208 | 238330 |
HP:0001336 | HP:0025097 | Eyelid myoclonus | 1 | GCSH CL E G H | 2653 | 605899 | Non-ketotic hyperglycinemia | 605899 | C0751748 | OMIM | 1 | | 176 | 4208 | 238330 |
HP:0001336 | HP:0010531 | Spinal myoclonus | 1 | GCSH CL E G H | 2653 | 605899 | Non-ketotic hyperglycinemia | 605899 | C0751748 | OMIM | 1 | | 176 | 4208 | 238330 |
HP:0001336 | HP:0025357 | Erratic myoclonus | 1 | GCSH CL E G H | 2653 | 605899 | Non-ketotic hyperglycinemia | 605899 | C0751748 | OMIM | 1 | | 176 | 4208 | 238330 |
HP:0001336 | HP:0003739 | Myoclonic spasms | 1 | GCSH CL E G H | 2653 | 605899 | Non-ketotic hyperglycinemia | 605899 | C0751748 | OMIM | 1 | | 176 | 4208 | 238330 |
HP:0001336 | HP:0012323 | Sleep myoclonus | 1 | GCSH CL E G H | 2653 | 605899 | Non-ketotic hyperglycinemia | 605899 | C0751748 | OMIM | 1 | | 176 | 4208 | 238330 |
HP:0001336 | HP:0007000 | Morning myoclonic jerks | 1 | GCSH CL E G H | 2653 | 605899 | Non-ketotic hyperglycinemia | 605899 | C0751748 | OMIM | 1 | | 176 | 4208 | 238330 |
HP:0001336 | HP:0031986 | Polyminimyoclonus | 1 | GCSH CL E G H | 2653 | 605899 | Non-ketotic hyperglycinemia | 605899 | C0751748 | OMIM | 1 | | 176 | 4208 | 238330 |
HP:0001336 | HP:0040148 | Cortical myoclonus | 1 | GCSH CL E G H | 2653 | 605899 | Non-ketotic hyperglycinemia | 605899 | C0751748 | OMIM | 1 | | 176 | 4208 | 238330 |
HP:0001336 | HP:0045084 | Limb myoclonus | 1 | GCSH CL E G H | 2653 | 605899 | Non-ketotic hyperglycinemia | 605899 | C0751748 | OMIM | 1 | | 176 | 4208 | 238330 |
HP:0001336 | HP:0010530 | Palatal myoclonus | 1 | GCSH CL E G H | 2653 | 605899 | Non-ketotic hyperglycinemia | 605899 | C0751748 | OMIM | 1 | | 176 | 4208 | 238330 |
HP:0001336 | HP:0007000 | Morning myoclonic jerks | 1 | GLDC CL E G H | 2731 | 605899 | Non-ketotic hyperglycinemia | 605899 | C0751748 | OMIM | 1 | | 2238 | 4313 | 238300 |
HP:0001336 | HP:0031986 | Polyminimyoclonus | 1 | GLDC CL E G H | 2731 | 605899 | Non-ketotic hyperglycinemia | 605899 | C0751748 | OMIM | 1 | | 2238 | 4313 | 238300 |
HP:0001336 | HP:0045084 | Limb myoclonus | 1 | GLDC CL E G H | 2731 | 605899 | Non-ketotic hyperglycinemia | 605899 | C0751748 | OMIM | 1 | | 2238 | 4313 | 238300 |
HP:0001336 | HP:0010530 | Palatal myoclonus | 1 | GLDC CL E G H | 2731 | 605899 | Non-ketotic hyperglycinemia | 605899 | C0751748 | OMIM | 1 | | 2238 | 4313 | 238300 |
HP:0001336 | HP:0040148 | Cortical myoclonus | 1 | GLDC CL E G H | 2731 | 605899 | Non-ketotic hyperglycinemia | 605899 | C0751748 | OMIM | 1 | | 2238 | 4313 | 238300 |
HP:0001336 | HP:0010531 | Spinal myoclonus | 1 | GLDC CL E G H | 2731 | 605899 | Non-ketotic hyperglycinemia | 605899 | C0751748 | OMIM | 1 | | 2238 | 4313 | 238300 |
HP:0001336 | HP:0012462 | Chin myoclonus | 1 | GLDC CL E G H | 2731 | 605899 | Non-ketotic hyperglycinemia | 605899 | C0751748 | OMIM | 1 | | 2238 | 4313 | 238300 |
HP:0001336 | HP:0025097 | Eyelid myoclonus | 1 | GLDC CL E G H | 2731 | 605899 | Non-ketotic hyperglycinemia | 605899 | C0751748 | OMIM | 1 | | 2238 | 4313 | 238300 |
HP:0001336 | HP:0003739 | Myoclonic spasms | 1 | GLDC CL E G H | 2731 | 605899 | Non-ketotic hyperglycinemia | 605899 | C0751748 | OMIM | 1 | | 2238 | 4313 | 238300 |
HP:0001336 | HP:0012323 | Sleep myoclonus | 1 | GLDC CL E G H | 2731 | 605899 | Non-ketotic hyperglycinemia | 605899 | C0751748 | OMIM | 1 | | 2238 | 4313 | 238300 |
HP:0001336 | HP:0025357 | Erratic myoclonus | 1 | GLDC CL E G H | 2731 | 605899 | Non-ketotic hyperglycinemia | 605899 | C0751748 | OMIM | 1 | | 2238 | 4313 | 238300 |
HP:0001336 | HP:0010531 | Spinal myoclonus | 1 | GLRA1 CL E G H | 2741 | 149400 | Hyperekplexia hereditary | 149400 | C1835614 | OMIM | 1 | | 447 | 4326 | 138491 |
HP:0001336 | HP:0012462 | Chin myoclonus | 1 | GLRA1 CL E G H | 2741 | 149400 | Hyperekplexia hereditary | 149400 | C1835614 | OMIM | 1 | | 447 | 4326 | 138491 |
HP:0001336 | HP:0025097 | Eyelid myoclonus | 1 | GLRA1 CL E G H | 2741 | 149400 | Hyperekplexia hereditary | 149400 | C1835614 | OMIM | 1 | | 447 | 4326 | 138491 |
HP:0001336 | HP:0003739 | Myoclonic spasms | 1 | GLRA1 CL E G H | 2741 | 149400 | Hyperekplexia hereditary | 149400 | C1835614 | OMIM | 1 | | 447 | 4326 | 138491 |
HP:0001336 | HP:0012323 | Sleep myoclonus | 1 | GLRA1 CL E G H | 2741 | 149400 | Hyperekplexia hereditary | 149400 | C1835614 | OMIM | 1 | | 447 | 4326 | 138491 |
HP:0001336 | HP:0025357 | Erratic myoclonus | 1 | GLRA1 CL E G H | 2741 | 149400 | Hyperekplexia hereditary | 149400 | C1835614 | OMIM | 1 | | 447 | 4326 | 138491 |
HP:0001336 | HP:0007000 | Morning myoclonic jerks | 1 | GLRA1 CL E G H | 2741 | 149400 | Hyperekplexia hereditary | 149400 | C1835614 | OMIM | 1 | | 447 | 4326 | 138491 |
HP:0001336 | HP:0031986 | Polyminimyoclonus | 1 | GLRA1 CL E G H | 2741 | 149400 | Hyperekplexia hereditary | 149400 | C1835614 | OMIM | 1 | | 447 | 4326 | 138491 |
HP:0001336 | HP:0010530 | Palatal myoclonus | 1 | GLRA1 CL E G H | 2741 | 149400 | Hyperekplexia hereditary | 149400 | C1835614 | OMIM | 1 | | 447 | 4326 | 138491 |
HP:0001336 | HP:0040148 | Cortical myoclonus | 1 | GLRA1 CL E G H | 2741 | 149400 | Hyperekplexia hereditary | 149400 | C1835614 | OMIM | 1 | | 447 | 4326 | 138491 |
HP:0001336 | HP:0045084 | Limb myoclonus | 1 | GLRA1 CL E G H | 2741 | 149400 | Hyperekplexia hereditary | 149400 | C1835614 | OMIM | 1 | | 447 | 4326 | 138491 |
HP:0001336 | HP:0007000 | Morning myoclonic jerks | 1 | GLRA1 CL E G H | 2741 | 3197 | Lateral body wall defect | | | ORPHA | 1 | | 447 | 4326 | 138491 |
HP:0001336 | HP:0031986 | Polyminimyoclonus | 1 | GLRA1 CL E G H | 2741 | 3197 | Lateral body wall defect | | | ORPHA | 1 | | 447 | 4326 | 138491 |
HP:0001336 | HP:0040148 | Cortical myoclonus | 1 | GLRA1 CL E G H | 2741 | 3197 | Lateral body wall defect | | | ORPHA | 1 | | 447 | 4326 | 138491 |
HP:0001336 | HP:0045084 | Limb myoclonus | 1 | GLRA1 CL E G H | 2741 | 3197 | Lateral body wall defect | | | ORPHA | 1 | | 447 | 4326 | 138491 |
HP:0001336 | HP:0010530 | Palatal myoclonus | 1 | GLRA1 CL E G H | 2741 | 3197 | Lateral body wall defect | | | ORPHA | 1 | | 447 | 4326 | 138491 |
HP:0001336 | HP:0010531 | Spinal myoclonus | 1 | GLRA1 CL E G H | 2741 | 3197 | Lateral body wall defect | | | ORPHA | 1 | | 447 | 4326 | 138491 |
HP:0001336 | HP:0012462 | Chin myoclonus | 1 | GLRA1 CL E G H | 2741 | 3197 | Lateral body wall defect | | | ORPHA | 1 | | 447 | 4326 | 138491 |
HP:0001336 | HP:0025097 | Eyelid myoclonus | 1 | GLRA1 CL E G H | 2741 | 3197 | Lateral body wall defect | | | ORPHA | 1 | | 447 | 4326 | 138491 |
HP:0001336 | HP:0012323 | Sleep myoclonus | 1 | GLRA1 CL E G H | 2741 | 3197 | Lateral body wall defect | | | ORPHA | 1 | | 447 | 4326 | 138491 |
HP:0001336 | HP:0025357 | Erratic myoclonus | 1 | GLRA1 CL E G H | 2741 | 3197 | Lateral body wall defect | | | ORPHA | 1 | | 447 | 4326 | 138491 |
HP:0001336 | HP:0003739 | Myoclonic spasms | 1 | GLRA1 CL E G H | 2741 | 3197 | Lateral body wall defect | | | ORPHA | 1 | | 447 | 4326 | 138491 |
HP:0001336 | HP:0012462 | Chin myoclonus | 1 | GLRB CL E G H | 2743 | 614619 | Hyperekplexia 2 | 614619 | C3553291 | OMIM | 1 | | 379 | 4329 | 138492 |
HP:0001336 | HP:0025097 | Eyelid myoclonus | 1 | GLRB CL E G H | 2743 | 614619 | Hyperekplexia 2 | 614619 | C3553291 | OMIM | 1 | | 379 | 4329 | 138492 |
HP:0001336 | HP:0010531 | Spinal myoclonus | 1 | GLRB CL E G H | 2743 | 614619 | Hyperekplexia 2 | 614619 | C3553291 | OMIM | 1 | | 379 | 4329 | 138492 |
HP:0001336 | HP:0025357 | Erratic myoclonus | 1 | GLRB CL E G H | 2743 | 614619 | Hyperekplexia 2 | 614619 | C3553291 | OMIM | 1 | | 379 | 4329 | 138492 |
HP:0001336 | HP:0003739 | Myoclonic spasms | 1 | GLRB CL E G H | 2743 | 614619 | Hyperekplexia 2 | 614619 | C3553291 | OMIM | 1 | | 379 | 4329 | 138492 |
HP:0001336 | HP:0012323 | Sleep myoclonus | 1 | GLRB CL E G H | 2743 | 614619 | Hyperekplexia 2 | 614619 | C3553291 | OMIM | 1 | | 379 | 4329 | 138492 |
HP:0001336 | HP:0007000 | Morning myoclonic jerks | 1 | GLRB CL E G H | 2743 | 614619 | Hyperekplexia 2 | 614619 | C3553291 | OMIM | 1 | | 379 | 4329 | 138492 |
HP:0001336 | HP:0031986 | Polyminimyoclonus | 1 | GLRB CL E G H | 2743 | 614619 | Hyperekplexia 2 | 614619 | C3553291 | OMIM | 1 | | 379 | 4329 | 138492 |
HP:0001336 | HP:0040148 | Cortical myoclonus | 1 | GLRB CL E G H | 2743 | 614619 | Hyperekplexia 2 | 614619 | C3553291 | OMIM | 1 | | 379 | 4329 | 138492 |
HP:0001336 | HP:0045084 | Limb myoclonus | 1 | GLRB CL E G H | 2743 | 614619 | Hyperekplexia 2 | 614619 | C3553291 | OMIM | 1 | | 379 | 4329 | 138492 |
HP:0001336 | HP:0010530 | Palatal myoclonus | 1 | GLRB CL E G H | 2743 | 614619 | Hyperekplexia 2 | 614619 | C3553291 | OMIM | 1 | | 379 | 4329 | 138492 |
HP:0001336 | HP:0012462 | Chin myoclonus | 1 | GLRB CL E G H | 2743 | 3197 | Lateral body wall defect | | | ORPHA | 1 | | 379 | 4329 | 138492 |
HP:0001336 | HP:0025097 | Eyelid myoclonus | 1 | GLRB CL E G H | 2743 | 3197 | Lateral body wall defect | | | ORPHA | 1 | | 379 | 4329 | 138492 |
HP:0001336 | HP:0010531 | Spinal myoclonus | 1 | GLRB CL E G H | 2743 | 3197 | Lateral body wall defect | | | ORPHA | 1 | | 379 | 4329 | 138492 |
HP:0001336 | HP:0025357 | Erratic myoclonus | 1 | GLRB CL E G H | 2743 | 3197 | Lateral body wall defect | | | ORPHA | 1 | | 379 | 4329 | 138492 |
HP:0001336 | HP:0003739 | Myoclonic spasms | 1 | GLRB CL E G H | 2743 | 3197 | Lateral body wall defect | | | ORPHA | 1 | | 379 | 4329 | 138492 |
HP:0001336 | HP:0012323 | Sleep myoclonus | 1 | GLRB CL E G H | 2743 | 3197 | Lateral body wall defect | | | ORPHA | 1 | | 379 | 4329 | 138492 |
HP:0001336 | HP:0007000 | Morning myoclonic jerks | 1 | GLRB CL E G H | 2743 | 3197 | Lateral body wall defect | | | ORPHA | 1 | | 379 | 4329 | 138492 |
HP:0001336 | HP:0031986 | Polyminimyoclonus | 1 | GLRB CL E G H | 2743 | 3197 | Lateral body wall defect | | | ORPHA | 1 | | 379 | 4329 | 138492 |
HP:0001336 | HP:0040148 | Cortical myoclonus | 1 | GLRB CL E G H | 2743 | 3197 | Lateral body wall defect | | | ORPHA | 1 | | 379 | 4329 | 138492 |
HP:0001336 | HP:0045084 | Limb myoclonus | 1 | GLRB CL E G H | 2743 | 3197 | Lateral body wall defect | | | ORPHA | 1 | | 379 | 4329 | 138492 |
HP:0001336 | HP:0010530 | Palatal myoclonus | 1 | GLRB CL E G H | 2743 | 3197 | Lateral body wall defect | | | ORPHA | 1 | | 379 | 4329 | 138492 |
HP:0001336 | HP:0010531 | Spinal myoclonus | 1 | GLYCTK CL E G H | 132158 | 220120 | Deficiency of glycerate kinase | 220120 | C1291386 | OMIM | 1 | | 166 | 24247 | 610516 |
HP:0001336 | HP:0012462 | Chin myoclonus | 1 | GLYCTK CL E G H | 132158 | 220120 | Deficiency of glycerate kinase | 220120 | C1291386 | OMIM | 1 | | 166 | 24247 | 610516 |
HP:0001336 | HP:0025097 | Eyelid myoclonus | 1 | GLYCTK CL E G H | 132158 | 220120 | Deficiency of glycerate kinase | 220120 | C1291386 | OMIM | 1 | | 166 | 24247 | 610516 |
HP:0001336 | HP:0003739 | Myoclonic spasms | 1 | GLYCTK CL E G H | 132158 | 220120 | Deficiency of glycerate kinase | 220120 | C1291386 | OMIM | 1 | | 166 | 24247 | 610516 |
HP:0001336 | HP:0012323 | Sleep myoclonus | 1 | GLYCTK CL E G H | 132158 | 220120 | Deficiency of glycerate kinase | 220120 | C1291386 | OMIM | 1 | | 166 | 24247 | 610516 |
HP:0001336 | HP:0025357 | Erratic myoclonus | 1 | GLYCTK CL E G H | 132158 | 220120 | Deficiency of glycerate kinase | 220120 | C1291386 | OMIM | 1 | | 166 | 24247 | 610516 |
HP:0001336 | HP:0007000 | Morning myoclonic jerks | 1 | GLYCTK CL E G H | 132158 | 220120 | Deficiency of glycerate kinase | 220120 | C1291386 | OMIM | 1 | | 166 | 24247 | 610516 |
HP:0001336 | HP:0031986 | Polyminimyoclonus | 1 | GLYCTK CL E G H | 132158 | 220120 | Deficiency of glycerate kinase | 220120 | C1291386 | OMIM | 1 | | 166 | 24247 | 610516 |
HP:0001336 | HP:0010530 | Palatal myoclonus | 1 | GLYCTK CL E G H | 132158 | 220120 | Deficiency of glycerate kinase | 220120 | C1291386 | OMIM | 1 | | 166 | 24247 | 610516 |
HP:0001336 | HP:0040148 | Cortical myoclonus | 1 | GLYCTK CL E G H | 132158 | 220120 | Deficiency of glycerate kinase | 220120 | C1291386 | OMIM | 1 | | 166 | 24247 | 610516 |
HP:0001336 | HP:0045084 | Limb myoclonus | 1 | GLYCTK CL E G H | 132158 | 220120 | Deficiency of glycerate kinase | 220120 | C1291386 | OMIM | 1 | | 166 | 24247 | 610516 |
HP:0001336 | HP:0010531 | Spinal myoclonus | 1 | GOSR2 CL E G H | 9570 | 614018 | Epilepsy, progressive myoclonic 6 | 614018 | C3279627 | OMIM | 1 | | 320 | 4431 | 604027 |
HP:0001336 | HP:0012462 | Chin myoclonus | 1 | GOSR2 CL E G H | 9570 | 614018 | Epilepsy, progressive myoclonic 6 | 614018 | C3279627 | OMIM | 1 | | 320 | 4431 | 604027 |
HP:0001336 | HP:0025097 | Eyelid myoclonus | 1 | GOSR2 CL E G H | 9570 | 614018 | Epilepsy, progressive myoclonic 6 | 614018 | C3279627 | OMIM | 1 | | 320 | 4431 | 604027 |
HP:0001336 | HP:0003739 | Myoclonic spasms | 1 | GOSR2 CL E G H | 9570 | 614018 | Epilepsy, progressive myoclonic 6 | 614018 | C3279627 | OMIM | 1 | | 320 | 4431 | 604027 |
HP:0001336 | HP:0012323 | Sleep myoclonus | 1 | GOSR2 CL E G H | 9570 | 614018 | Epilepsy, progressive myoclonic 6 | 614018 | C3279627 | OMIM | 1 | | 320 | 4431 | 604027 |
HP:0001336 | HP:0025357 | Erratic myoclonus | 1 | GOSR2 CL E G H | 9570 | 614018 | Epilepsy, progressive myoclonic 6 | 614018 | C3279627 | OMIM | 1 | | 320 | 4431 | 604027 |
HP:0001336 | HP:0007000 | Morning myoclonic jerks | 1 | GOSR2 CL E G H | 9570 | 614018 | Epilepsy, progressive myoclonic 6 | 614018 | C3279627 | OMIM | 1 | | 320 | 4431 | 604027 |
HP:0001336 | HP:0031986 | Polyminimyoclonus | 1 | GOSR2 CL E G H | 9570 | 614018 | Epilepsy, progressive myoclonic 6 | 614018 | C3279627 | OMIM | 1 | | 320 | 4431 | 604027 |
HP:0001336 | HP:0045084 | Limb myoclonus | 1 | GOSR2 CL E G H | 9570 | 614018 | Epilepsy, progressive myoclonic 6 | 614018 | C3279627 | OMIM | 1 | | 320 | 4431 | 604027 |
HP:0001336 | HP:0010530 | Palatal myoclonus | 1 | GOSR2 CL E G H | 9570 | 614018 | Epilepsy, progressive myoclonic 6 | 614018 | C3279627 | OMIM | 1 | | 320 | 4431 | 604027 |
HP:0001336 | HP:0040148 | Cortical myoclonus | 1 | GOSR2 CL E G H | 9570 | 614018 | Epilepsy, progressive myoclonic 6 | 614018 | C3279627 | OMIM | 1 | | 320 | 4431 | 604027 |
HP:0001336 | HP:0007000 | Morning myoclonic jerks | 1 | GPHN CL E G H | 10243 | 149400 | Hyperekplexia hereditary | 149400 | C1835614 | OMIM | 1 | | 1473 | 15465 | 603930 |
HP:0001336 | HP:0031986 | Polyminimyoclonus | 1 | GPHN CL E G H | 10243 | 149400 | Hyperekplexia hereditary | 149400 | C1835614 | OMIM | 1 | | 1473 | 15465 | 603930 |
HP:0001336 | HP:0040148 | Cortical myoclonus | 1 | GPHN CL E G H | 10243 | 149400 | Hyperekplexia hereditary | 149400 | C1835614 | OMIM | 1 | | 1473 | 15465 | 603930 |
HP:0001336 | HP:0045084 | Limb myoclonus | 1 | GPHN CL E G H | 10243 | 149400 | Hyperekplexia hereditary | 149400 | C1835614 | OMIM | 1 | | 1473 | 15465 | 603930 |
HP:0001336 | HP:0010530 | Palatal myoclonus | 1 | GPHN CL E G H | 10243 | 149400 | Hyperekplexia hereditary | 149400 | C1835614 | OMIM | 1 | | 1473 | 15465 | 603930 |
HP:0001336 | HP:0010531 | Spinal myoclonus | 1 | GPHN CL E G H | 10243 | 149400 | Hyperekplexia hereditary | 149400 | C1835614 | OMIM | 1 | | 1473 | 15465 | 603930 |
HP:0001336 | HP:0012462 | Chin myoclonus | 1 | GPHN CL E G H | 10243 | 149400 | Hyperekplexia hereditary | 149400 | C1835614 | OMIM | 1 | | 1473 | 15465 | 603930 |
HP:0001336 | HP:0025097 | Eyelid myoclonus | 1 | GPHN CL E G H | 10243 | 149400 | Hyperekplexia hereditary | 149400 | C1835614 | OMIM | 1 | | 1473 | 15465 | 603930 |
HP:0001336 | HP:0012323 | Sleep myoclonus | 1 | GPHN CL E G H | 10243 | 149400 | Hyperekplexia hereditary | 149400 | C1835614 | OMIM | 1 | | 1473 | 15465 | 603930 |
HP:0001336 | HP:0025357 | Erratic myoclonus | 1 | GPHN CL E G H | 10243 | 149400 | Hyperekplexia hereditary | 149400 | C1835614 | OMIM | 1 | | 1473 | 15465 | 603930 |
HP:0001336 | HP:0003739 | Myoclonic spasms | 1 | GPHN CL E G H | 10243 | 149400 | Hyperekplexia hereditary | 149400 | C1835614 | OMIM | 1 | | 1473 | 15465 | 603930 |
HP:0001336 | HP:0007000 | Morning myoclonic jerks | 1 | GPHN CL E G H | 10243 | 3197 | Lateral body wall defect | | | ORPHA | 1 | | 1473 | 15465 | 603930 |
HP:0001336 | HP:0031986 | Polyminimyoclonus | 1 | GPHN CL E G H | 10243 | 3197 | Lateral body wall defect | | | ORPHA | 1 | | 1473 | 15465 | 603930 |
HP:0001336 | HP:0045084 | Limb myoclonus | 1 | GPHN CL E G H | 10243 | 3197 | Lateral body wall defect | | | ORPHA | 1 | | 1473 | 15465 | 603930 |
HP:0001336 | HP:0010530 | Palatal myoclonus | 1 | GPHN CL E G H | 10243 | 3197 | Lateral body wall defect | | | ORPHA | 1 | | 1473 | 15465 | 603930 |
HP:0001336 | HP:0040148 | Cortical myoclonus | 1 | GPHN CL E G H | 10243 | 3197 | Lateral body wall defect | | | ORPHA | 1 | | 1473 | 15465 | 603930 |
HP:0001336 | HP:0025097 | Eyelid myoclonus | 1 | GPHN CL E G H | 10243 | 3197 | Lateral body wall defect | | | ORPHA | 1 | | 1473 | 15465 | 603930 |
HP:0001336 | HP:0010531 | Spinal myoclonus | 1 | GPHN CL E G H | 10243 | 3197 | Lateral body wall defect | | | ORPHA | 1 | | 1473 | 15465 | 603930 |
HP:0001336 | HP:0012462 | Chin myoclonus | 1 | GPHN CL E G H | 10243 | 3197 | Lateral body wall defect | | | ORPHA | 1 | | 1473 | 15465 | 603930 |
HP:0001336 | HP:0025357 | Erratic myoclonus | 1 | GPHN CL E G H | 10243 | 3197 | Lateral body wall defect | | | ORPHA | 1 | | 1473 | 15465 | 603930 |
HP:0001336 | HP:0003739 | Myoclonic spasms | 1 | GPHN CL E G H | 10243 | 3197 | Lateral body wall defect | | | ORPHA | 1 | | 1473 | 15465 | 603930 |
HP:0001336 | HP:0012323 | Sleep myoclonus | 1 | GPHN CL E G H | 10243 | 3197 | Lateral body wall defect | | | ORPHA | 1 | | 1473 | 15465 | 603930 |
HP:0001336 | HP:0031986 | Polyminimyoclonus | 1 | GRIN1 CL E G H | 2902 | 614254 | Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant | 614254 | C3280282 | OMIM | 1 | | 929 | 4584 | 138249 |
HP:0001336 | HP:0007000 | Morning myoclonic jerks | 1 | GRIN1 CL E G H | 2902 | 614254 | Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant | 614254 | C3280282 | OMIM | 1 | | 929 | 4584 | 138249 |
HP:0001336 | HP:0040148 | Cortical myoclonus | 1 | GRIN1 CL E G H | 2902 | 614254 | Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant | 614254 | C3280282 | OMIM | 1 | | 929 | 4584 | 138249 |
HP:0001336 | HP:0045084 | Limb myoclonus | 1 | GRIN1 CL E G H | 2902 | 614254 | Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant | 614254 | C3280282 | OMIM | 1 | | 929 | 4584 | 138249 |
HP:0001336 | HP:0010530 | Palatal myoclonus | 1 | GRIN1 CL E G H | 2902 | 614254 | Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant | 614254 | C3280282 | OMIM | 1 | | 929 | 4584 | 138249 |
HP:0001336 | HP:0010531 | Spinal myoclonus | 1 | GRIN1 CL E G H | 2902 | 614254 | Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant | 614254 | C3280282 | OMIM | 1 | | 929 | 4584 | 138249 |
HP:0001336 | HP:0012462 | Chin myoclonus | 1 | GRIN1 CL E G H | 2902 | 614254 | Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant | 614254 | C3280282 | OMIM | 1 | | 929 | 4584 | 138249 |
HP:0001336 | HP:0025097 | Eyelid myoclonus | 1 | GRIN1 CL E G H | 2902 | 614254 | Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant | 614254 | C3280282 | OMIM | 1 | | 929 | 4584 | 138249 |
HP:0001336 | HP:0012323 | Sleep myoclonus | 1 | GRIN1 CL E G H | 2902 | 614254 | Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant | 614254 | C3280282 | OMIM | 1 | | 929 | 4584 | 138249 |
HP:0001336 | HP:0025357 | Erratic myoclonus | 1 | GRIN1 CL E G H | 2902 | 614254 | Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant | 614254 | C3280282 | OMIM | 1 | | 929 | 4584 | 138249 |
HP:0001336 | HP:0003739 | Myoclonic spasms | 1 | GRIN1 CL E G H | 2902 | 614254 | Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant | 614254 | C3280282 | OMIM | 1 | | 929 | 4584 | 138249 |
HP:0001336 | HP:0010531 | Spinal myoclonus | 1 | GRIN2B CL E G H | 2904 | 3451 | Meier Blumberg Imahorn syndrome | | | ORPHA | 1 | | 1353 | 4586 | 138252 |
HP:0001336 | HP:0012462 | Chin myoclonus | 1 | GRIN2B CL E G H | 2904 | 3451 | Meier Blumberg Imahorn syndrome | | | ORPHA | 1 | | 1353 | 4586 | 138252 |
HP:0001336 | HP:0025097 | Eyelid myoclonus | 1 | GRIN2B CL E G H | 2904 | 3451 | Meier Blumberg Imahorn syndrome | | | ORPHA | 1 | | 1353 | 4586 | 138252 |
HP:0001336 | HP:0003739 | Myoclonic spasms | 1 | GRIN2B CL E G H | 2904 | 3451 | Meier Blumberg Imahorn syndrome | | | ORPHA | 1 | | 1353 | 4586 | 138252 |
HP:0001336 | HP:0012323 | Sleep myoclonus | 1 | GRIN2B CL E G H | 2904 | 3451 | Meier Blumberg Imahorn syndrome | | | ORPHA | 1 | | 1353 | 4586 | 138252 |
HP:0001336 | HP:0025357 | Erratic myoclonus | 1 | GRIN2B CL E G H | 2904 | 3451 | Meier Blumberg Imahorn syndrome | | | ORPHA | 1 | | 1353 | 4586 | 138252 |
HP:0001336 | HP:0031986 | Polyminimyoclonus | 1 | GRIN2B CL E G H | 2904 | 3451 | Meier Blumberg Imahorn syndrome | | | ORPHA | 1 | | 1353 | 4586 | 138252 |
HP:0001336 | HP:0007000 | Morning myoclonic jerks | 1 | GRIN2B CL E G H | 2904 | 3451 | Meier Blumberg Imahorn syndrome | | | ORPHA | 1 | | 1353 | 4586 | 138252 |
HP:0001336 | HP:0010530 | Palatal myoclonus | 1 | GRIN2B CL E G H | 2904 | 3451 | Meier Blumberg Imahorn syndrome | | | ORPHA | 1 | | 1353 | 4586 | 138252 |
HP:0001336 | HP:0040148 | Cortical myoclonus | 1 | GRIN2B CL E G H | 2904 | 3451 | Meier Blumberg Imahorn syndrome | | | ORPHA | 1 | | 1353 | 4586 | 138252 |
HP:0001336 | HP:0045084 | Limb myoclonus | 1 | GRIN2B CL E G H | 2904 | 3451 | Meier Blumberg Imahorn syndrome | | | ORPHA | 1 | | 1353 | 4586 | 138252 |
HP:0001336 | HP:0012462 | Chin myoclonus | 1 | GUF1 CL E G H | 60558 | 617065 | Epileptic encephalopathy, early infantile, 40 | 617065 | C4310737 | OMIM | 1 | | 309 | 25799 | 617064 |
HP:0001336 | HP:0025097 | Eyelid myoclonus | 1 | GUF1 CL E G H | 60558 | 617065 | Epileptic encephalopathy, early infantile, 40 | 617065 | C4310737 | OMIM | 1 | | 309 | 25799 | 617064 |
HP:0001336 | HP:0010531 | Spinal myoclonus | 1 | GUF1 CL E G H | 60558 | 617065 | Epileptic encephalopathy, early infantile, 40 | 617065 | C4310737 | OMIM | 1 | | 309 | 25799 | 617064 |
HP:0001336 | HP:0025357 | Erratic myoclonus | 1 | GUF1 CL E G H | 60558 | 617065 | Epileptic encephalopathy, early infantile, 40 | 617065 | C4310737 | OMIM | 1 | | 309 | 25799 | 617064 |
HP:0001336 | HP:0003739 | Myoclonic spasms | 1 | GUF1 CL E G H | 60558 | 617065 | Epileptic encephalopathy, early infantile, 40 | 617065 | C4310737 | OMIM | 1 | | 309 | 25799 | 617064 |
HP:0001336 | HP:0012323 | Sleep myoclonus | 1 | GUF1 CL E G H | 60558 | 617065 | Epileptic encephalopathy, early infantile, 40 | 617065 | C4310737 | OMIM | 1 | | 309 | 25799 | 617064 |
HP:0001336 | HP:0007000 | Morning myoclonic jerks | 1 | GUF1 CL E G H | 60558 | 617065 | Epileptic encephalopathy, early infantile, 40 | 617065 | C4310737 | OMIM | 1 | | 309 | 25799 | 617064 |
HP:0001336 | HP:0031986 | Polyminimyoclonus | 1 | GUF1 CL E G H | 60558 | 617065 | Epileptic encephalopathy, early infantile, 40 | 617065 | C4310737 | OMIM | 1 | | 309 | 25799 | 617064 |
HP:0001336 | HP:0040148 | Cortical myoclonus | 1 | GUF1 CL E G H | 60558 | 617065 | Epileptic encephalopathy, early infantile, 40 | 617065 | C4310737 | OMIM | 1 | | 309 | 25799 | 617064 |
HP:0001336 | HP:0045084 | Limb myoclonus | 1 | GUF1 CL E G H | 60558 | 617065 | Epileptic encephalopathy, early infantile, 40 | 617065 | C4310737 | OMIM | 1 | | 309 | 25799 | 617064 |
HP:0001336 | HP:0010530 | Palatal myoclonus | 1 | GUF1 CL E G H | 60558 | 617065 | Epileptic encephalopathy, early infantile, 40 | 617065 | C4310737 | OMIM | 1 | | 309 | 25799 | 617064 |
HP:0001336 | HP:0007000 | Morning myoclonic jerks | 1 | GUF1 CL E G H | 60558 | 3451 | Meier Blumberg Imahorn syndrome | | | ORPHA | 1 | | 309 | 25799 | 617064 |
HP:0001336 | HP:0031986 | Polyminimyoclonus | 1 | GUF1 CL E G H | 60558 | 3451 | Meier Blumberg Imahorn syndrome | | | ORPHA | 1 | | 309 | 25799 | 617064 |
HP:0001336 | HP:0040148 | Cortical myoclonus | 1 | GUF1 CL E G H | 60558 | 3451 | Meier Blumberg Imahorn syndrome | | | ORPHA | 1 | | 309 | 25799 | 617064 |
HP:0001336 | HP:0045084 | Limb myoclonus | 1 | GUF1 CL E G H | 60558 | 3451 | Meier Blumberg Imahorn syndrome | | | ORPHA | 1 | | 309 | 25799 | 617064 |
HP:0001336 | HP:0010530 | Palatal myoclonus | 1 | GUF1 CL E G H | 60558 | 3451 | Meier Blumberg Imahorn syndrome | | | ORPHA | 1 | | 309 | 25799 | 617064 |
HP:0001336 | HP:0010531 | Spinal myoclonus | 1 | GUF1 CL E G H | 60558 | 3451 | Meier Blumberg Imahorn syndrome | | | ORPHA | 1 | | 309 | 25799 | 617064 |
HP:0001336 | HP:0012462 | Chin myoclonus | 1 | GUF1 CL E G H | 60558 | 3451 | Meier Blumberg Imahorn syndrome | | | ORPHA | 1 | | 309 | 25799 | 617064 |
HP:0001336 | HP:0025097 | Eyelid myoclonus | 1 | GUF1 CL E G H | 60558 | 3451 | Meier Blumberg Imahorn syndrome | | | ORPHA | 1 | | 309 | 25799 | 617064 |
HP:0001336 | HP:0012323 | Sleep myoclonus | 1 | GUF1 CL E G H | 60558 | 3451 | Meier Blumberg Imahorn syndrome | | | ORPHA | 1 | | 309 | 25799 | 617064 |
HP:0001336 | HP:0025357 | Erratic myoclonus | 1 | GUF1 CL E G H | 60558 | 3451 | Meier Blumberg Imahorn syndrome | | | ORPHA | 1 | | 309 | 25799 | 617064 |
HP:0001336 | HP:0003739 | Myoclonic spasms | 1 | GUF1 CL E G H | 60558 | 3451 | Meier Blumberg Imahorn syndrome | | | ORPHA | 1 | | 309 | 25799 | 617064 |
HP:0001336 | HP:0031986 | Polyminimyoclonus | 1 | HIBCH CL E G H | 26275 | 250620 | Beta-hydroxyisobutyryl-CoA deacylase deficiency | 250620 | C0342738 | OMIM | 1 | | 235 | 4908 | 610690 |
HP:0001336 | HP:0007000 | Morning myoclonic jerks | 1 | HIBCH CL E G H | 26275 | 250620 | Beta-hydroxyisobutyryl-CoA deacylase deficiency | 250620 | C0342738 | OMIM | 1 | | 235 | 4908 | 610690 |
HP:0001336 | HP:0040148 | Cortical myoclonus | 1 | HIBCH CL E G H | 26275 | 250620 | Beta-hydroxyisobutyryl-CoA deacylase deficiency | 250620 | C0342738 | OMIM | 1 | | 235 | 4908 | 610690 |
HP:0001336 | HP:0045084 | Limb myoclonus | 1 | HIBCH CL E G H | 26275 | 250620 | Beta-hydroxyisobutyryl-CoA deacylase deficiency | 250620 | C0342738 | OMIM | 1 | | 235 | 4908 | 610690 |
HP:0001336 | HP:0010530 | Palatal myoclonus | 1 | HIBCH CL E G H | 26275 | 250620 | Beta-hydroxyisobutyryl-CoA deacylase deficiency | 250620 | C0342738 | OMIM | 1 | | 235 | 4908 | 610690 |
HP:0001336 | HP:0010531 | Spinal myoclonus | 1 | HIBCH CL E G H | 26275 | 250620 | Beta-hydroxyisobutyryl-CoA deacylase deficiency | 250620 | C0342738 | OMIM | 1 | | 235 | 4908 | 610690 |
HP:0001336 | HP:0012462 | Chin myoclonus | 1 | HIBCH CL E G H | 26275 | 250620 | Beta-hydroxyisobutyryl-CoA deacylase deficiency | 250620 | C0342738 | OMIM | 1 | | 235 | 4908 | 610690 |
HP:0001336 | HP:0025097 | Eyelid myoclonus | 1 | HIBCH CL E G H | 26275 | 250620 | Beta-hydroxyisobutyryl-CoA deacylase deficiency | 250620 | C0342738 | OMIM | 1 | | 235 | 4908 | 610690 |
HP:0001336 | HP:0012323 | Sleep myoclonus | 1 | HIBCH CL E G H | 26275 | 250620 | Beta-hydroxyisobutyryl-CoA deacylase deficiency | 250620 | C0342738 | OMIM | 1 | | 235 | 4908 | 610690 |
HP:0001336 | HP:0025357 | Erratic myoclonus | 1 | HIBCH CL E G H | 26275 | 250620 | Beta-hydroxyisobutyryl-CoA deacylase deficiency | 250620 | C0342738 | OMIM | 1 | | 235 | 4908 | 610690 |
HP:0001336 | HP:0003739 | Myoclonic spasms | 1 | HIBCH CL E G H | 26275 | 250620 | Beta-hydroxyisobutyryl-CoA deacylase deficiency | 250620 | C0342738 | OMIM | 1 | | 235 | 4908 | 610690 |
HP:0001336 | HP:0010531 | Spinal myoclonus | 1 | HMGCL CL E G H | 3155 | 246450 | Deficiency of hydroxymethylglutaryl-CoA lyase | 246450 | C0268601 | OMIM | 1 | | 420 | 5005 | 613898 |
HP:0001336 | HP:0012462 | Chin myoclonus | 1 | HMGCL CL E G H | 3155 | 246450 | Deficiency of hydroxymethylglutaryl-CoA lyase | 246450 | C0268601 | OMIM | 1 | | 420 | 5005 | 613898 |
HP:0001336 | HP:0025097 | Eyelid myoclonus | 1 | HMGCL CL E G H | 3155 | 246450 | Deficiency of hydroxymethylglutaryl-CoA lyase | 246450 | C0268601 | OMIM | 1 | | 420 | 5005 | 613898 |
HP:0001336 | HP:0003739 | Myoclonic spasms | 1 | HMGCL CL E G H | 3155 | 246450 | Deficiency of hydroxymethylglutaryl-CoA lyase | 246450 | C0268601 | OMIM | 1 | | 420 | 5005 | 613898 |
HP:0001336 | HP:0012323 | Sleep myoclonus | 1 | HMGCL CL E G H | 3155 | 246450 | Deficiency of hydroxymethylglutaryl-CoA lyase | 246450 | C0268601 | OMIM | 1 | | 420 | 5005 | 613898 |
HP:0001336 | HP:0025357 | Erratic myoclonus | 1 | HMGCL CL E G H | 3155 | 246450 | Deficiency of hydroxymethylglutaryl-CoA lyase | 246450 | C0268601 | OMIM | 1 | | 420 | 5005 | 613898 |
HP:0001336 | HP:0007000 | Morning myoclonic jerks | 1 | HMGCL CL E G H | 3155 | 246450 | Deficiency of hydroxymethylglutaryl-CoA lyase | 246450 | C0268601 | OMIM | 1 | | 420 | 5005 | 613898 |
HP:0001336 | HP:0031986 | Polyminimyoclonus | 1 | HMGCL CL E G H | 3155 | 246450 | Deficiency of hydroxymethylglutaryl-CoA lyase | 246450 | C0268601 | OMIM | 1 | | 420 | 5005 | 613898 |
HP:0001336 | HP:0010530 | Palatal myoclonus | 1 | HMGCL CL E G H | 3155 | 246450 | Deficiency of hydroxymethylglutaryl-CoA lyase | 246450 | C0268601 | OMIM | 1 | | 420 | 5005 | 613898 |
HP:0001336 | HP:0040148 | Cortical myoclonus | 1 | HMGCL CL E G H | 3155 | 246450 | Deficiency of hydroxymethylglutaryl-CoA lyase | 246450 | C0268601 | OMIM | 1 | | 420 | 5005 | 613898 |
HP:0001336 | HP:0045084 | Limb myoclonus | 1 | HMGCL CL E G H | 3155 | 246450 | Deficiency of hydroxymethylglutaryl-CoA lyase | 246450 | C0268601 | OMIM | 1 | | 420 | 5005 | 613898 |
HP:0001336 | HP:0007000 | Morning myoclonic jerks | 1 | KCNA2 CL E G H | 3737 | 616366 | Epileptic encephalopathy, early infantile, 32 | 616366 | C4225350 | OMIM | 1 | | 401 | 6220 | 176262 |
HP:0001336 | HP:0031986 | Polyminimyoclonus | 1 | KCNA2 CL E G H | 3737 | 616366 | Epileptic encephalopathy, early infantile, 32 | 616366 | C4225350 | OMIM | 1 | | 401 | 6220 | 176262 |
HP:0001336 | HP:0040148 | Cortical myoclonus | 1 | KCNA2 CL E G H | 3737 | 616366 | Epileptic encephalopathy, early infantile, 32 | 616366 | C4225350 | OMIM | 1 | | 401 | 6220 | 176262 |
HP:0001336 | HP:0045084 | Limb myoclonus | 1 | KCNA2 CL E G H | 3737 | 616366 | Epileptic encephalopathy, early infantile, 32 | 616366 | C4225350 | OMIM | 1 | | 401 | 6220 | 176262 |
HP:0001336 | HP:0010530 | Palatal myoclonus | 1 | KCNA2 CL E G H | 3737 | 616366 | Epileptic encephalopathy, early infantile, 32 | 616366 | C4225350 | OMIM | 1 | | 401 | 6220 | 176262 |
HP:0001336 | HP:0012462 | Chin myoclonus | 1 | KCNA2 CL E G H | 3737 | 616366 | Epileptic encephalopathy, early infantile, 32 | 616366 | C4225350 | OMIM | 1 | | 401 | 6220 | 176262 |
HP:0001336 | HP:0025097 | Eyelid myoclonus | 1 | KCNA2 CL E G H | 3737 | 616366 | Epileptic encephalopathy, early infantile, 32 | 616366 | C4225350 | OMIM | 1 | | 401 | 6220 | 176262 |
HP:0001336 | HP:0010531 | Spinal myoclonus | 1 | KCNA2 CL E G H | 3737 | 616366 | Epileptic encephalopathy, early infantile, 32 | 616366 | C4225350 | OMIM | 1 | | 401 | 6220 | 176262 |
HP:0001336 | HP:0025357 | Erratic myoclonus | 1 | KCNA2 CL E G H | 3737 | 616366 | Epileptic encephalopathy, early infantile, 32 | 616366 | C4225350 | OMIM | 1 | | 401 | 6220 | 176262 |
HP:0001336 | HP:0003739 | Myoclonic spasms | 1 | KCNA2 CL E G H | 3737 | 616366 | Epileptic encephalopathy, early infantile, 32 | 616366 | C4225350 | OMIM | 1 | | 401 | 6220 | 176262 |
HP:0001336 | HP:0012323 | Sleep myoclonus | 1 | KCNA2 CL E G H | 3737 | 616366 | Epileptic encephalopathy, early infantile, 32 | 616366 | C4225350 | OMIM | 1 | | 401 | 6220 | 176262 |
HP:0001336 | HP:0031986 | Polyminimyoclonus | 1 | KCNC1 CL E G H | 3746 | 616187 | Epilepsy, progressive myoclonic 7 | 616187 | C4015420 | OMIM | 1 | | 391 | 6233 | 176258 |
HP:0001336 | HP:0007000 | Morning myoclonic jerks | 1 | KCNC1 CL E G H | 3746 | 616187 | Epilepsy, progressive myoclonic 7 | 616187 | C4015420 | OMIM | 1 | | 391 | 6233 | 176258 |
HP:0001336 | HP:0010530 | Palatal myoclonus | 1 | KCNC1 CL E G H | 3746 | 616187 | Epilepsy, progressive myoclonic 7 | 616187 | C4015420 | OMIM | 1 | | 391 | 6233 | 176258 |
HP:0001336 | HP:0040148 | Cortical myoclonus | 1 | KCNC1 CL E G H | 3746 | 616187 | Epilepsy, progressive myoclonic 7 | 616187 | C4015420 | OMIM | 1 | | 391 | 6233 | 176258 |
HP:0001336 | HP:0045084 | Limb myoclonus | 1 | KCNC1 CL E G H | 3746 | 616187 | Epilepsy, progressive myoclonic 7 | 616187 | C4015420 | OMIM | 1 | | 391 | 6233 | 176258 |
HP:0001336 | HP:0010531 | Spinal myoclonus | 1 | KCNC1 CL E G H | 3746 | 616187 | Epilepsy, progressive myoclonic 7 | 616187 | C4015420 | OMIM | 1 | | 391 | 6233 | 176258 |
HP:0001336 | HP:0012462 | Chin myoclonus | 1 | KCNC1 CL E G H | 3746 | 616187 | Epilepsy, progressive myoclonic 7 | 616187 | C4015420 | OMIM | 1 | | 391 | 6233 | 176258 |
HP:0001336 | HP:0025097 | Eyelid myoclonus | 1 | KCNC1 CL E G H | 3746 | 616187 | Epilepsy, progressive myoclonic 7 | 616187 | C4015420 | OMIM | 1 | | 391 | 6233 | 176258 |
HP:0001336 | HP:0012323 | Sleep myoclonus | 1 | KCNC1 CL E G H | 3746 | 616187 | Epilepsy, progressive myoclonic 7 | 616187 | C4015420 | OMIM | 1 | | 391 | 6233 | 176258 |
HP:0001336 | HP:0025357 | Erratic myoclonus | 1 | KCNC1 CL E G H | 3746 | 616187 | Epilepsy, progressive myoclonic 7 | 616187 | C4015420 | OMIM | 1 | | 391 | 6233 | 176258 |
HP:0001336 | HP:0003739 | Myoclonic spasms | 1 | KCNC1 CL E G H | 3746 | 616187 | Epilepsy, progressive myoclonic 7 | 616187 | C4015420 | OMIM | 1 | | 391 | 6233 | 176258 |
HP:0001336 | HP:0010531 | Spinal myoclonus | 1 | KCND3 CL E G H | 3752 | 607346 | Spinocerebellar ataxia 19 | 607346 | C1846367 | OMIM | 1 | | 467 | 6239 | 605411 |
HP:0001336 | HP:0012462 | Chin myoclonus | 1 | KCND3 CL E G H | 3752 | 607346 | Spinocerebellar ataxia 19 | 607346 | C1846367 | OMIM | 1 | | 467 | 6239 | 605411 |
HP:0001336 | HP:0025097 | Eyelid myoclonus | 1 | KCND3 CL E G H | 3752 | 607346 | Spinocerebellar ataxia 19 | 607346 | C1846367 | OMIM | 1 | | 467 | 6239 | 605411 |
HP:0001336 | HP:0012323 | Sleep myoclonus | 1 | KCND3 CL E G H | 3752 | 607346 | Spinocerebellar ataxia 19 | 607346 | C1846367 | OMIM | 1 | | 467 | 6239 | 605411 |
HP:0001336 | HP:0025357 | Erratic myoclonus | 1 | KCND3 CL E G H | 3752 | 607346 | Spinocerebellar ataxia 19 | 607346 | C1846367 | OMIM | 1 | | 467 | 6239 | 605411 |
HP:0001336 | HP:0003739 | Myoclonic spasms | 1 | KCND3 CL E G H | 3752 | 607346 | Spinocerebellar ataxia 19 | 607346 | C1846367 | OMIM | 1 | | 467 | 6239 | 605411 |
HP:0001336 | HP:0031986 | Polyminimyoclonus | 1 | KCND3 CL E G H | 3752 | 607346 | Spinocerebellar ataxia 19 | 607346 | C1846367 | OMIM | 1 | | 467 | 6239 | 605411 |
HP:0001336 | HP:0007000 | Morning myoclonic jerks | 1 | KCND3 CL E G H | 3752 | 607346 | Spinocerebellar ataxia 19 | 607346 | C1846367 | OMIM | 1 | | 467 | 6239 | 605411 |
HP:0001336 | HP:0010530 | Palatal myoclonus | 1 | KCND3 CL E G H | 3752 | 607346 | Spinocerebellar ataxia 19 | 607346 | C1846367 | OMIM | 1 | | 467 | 6239 | 605411 |
HP:0001336 | HP:0040148 | Cortical myoclonus | 1 | KCND3 CL E G H | 3752 | 607346 | Spinocerebellar ataxia 19 | 607346 | C1846367 | OMIM | 1 | | 467 | 6239 | 605411 |
HP:0001336 | HP:0045084 | Limb myoclonus | 1 | KCND3 CL E G H | 3752 | 607346 | Spinocerebellar ataxia 19 | 607346 | C1846367 | OMIM | 1 | | 467 | 6239 | 605411 |
HP:0001336 | HP:0025357 | Erratic myoclonus | 1 | KCNQ2 CL E G H | 3785 | 306 | | | | ORPHA | 1 | | 1962 | 6296 | 602235 |
HP:0001336 | HP:0003739 | Myoclonic spasms | 1 | KCNQ2 CL E G H | 3785 | 306 | | | | ORPHA | 1 | | 1962 | 6296 | 602235 |
HP:0001336 | HP:0012323 | Sleep myoclonus | 1 | KCNQ2 CL E G H | 3785 | 306 | | | | ORPHA | 1 | | 1962 | 6296 | 602235 |
HP:0001336 | HP:0007000 | Morning myoclonic jerks | 1 | KCNQ2 CL E G H | 3785 | 306 | | | | ORPHA | 1 | | 1962 | 6296 | 602235 |
HP:0001336 | HP:0031986 | Polyminimyoclonus | 1 | KCNQ2 CL E G H | 3785 | 306 | | | | ORPHA | 1 | | 1962 | 6296 | 602235 |
HP:0001336 | HP:0040148 | Cortical myoclonus | 1 | KCNQ2 CL E G H | 3785 | 306 | | | | ORPHA | 1 | | 1962 | 6296 | 602235 |
HP:0001336 | HP:0045084 | Limb myoclonus | 1 | KCNQ2 CL E G H | 3785 | 306 | | | | ORPHA | 1 | | 1962 | 6296 | 602235 |
HP:0001336 | HP:0010530 | Palatal myoclonus | 1 | KCNQ2 CL E G H | 3785 | 306 | | | | ORPHA | 1 | | 1962 | 6296 | 602235 |
HP:0001336 | HP:0012462 | Chin myoclonus | 1 | KCNQ2 CL E G H | 3785 | 306 | | | | ORPHA | 1 | | 1962 | 6296 | 602235 |
HP:0001336 | HP:0025097 | Eyelid myoclonus | 1 | KCNQ2 CL E G H | 3785 | 306 | | | | ORPHA | 1 | | 1962 | 6296 | 602235 |
HP:0001336 | HP:0010531 | Spinal myoclonus | 1 | KCNQ2 CL E G H | 3785 | 306 | | | | ORPHA | 1 | | 1962 | 6296 | 602235 |
HP:0001336 | HP:0045084 | Limb myoclonus | 1 | KCNQ3 CL E G H | 3786 | 306 | | | | ORPHA | 1 | | 1227 | 6297 | 602232 |
HP:0001336 | HP:0010530 | Palatal myoclonus | 1 | KCNQ3 CL E G H | 3786 | 306 | | | | ORPHA | 1 | | 1227 | 6297 | 602232 |
HP:0001336 | HP:0040148 | Cortical myoclonus | 1 | KCNQ3 CL E G H | 3786 | 306 | | | | ORPHA | 1 | | 1227 | 6297 | 602232 |
HP:0001336 | HP:0025097 | Eyelid myoclonus | 1 | KCNQ3 CL E G H | 3786 | 306 | | | | ORPHA | 1 | | 1227 | 6297 | 602232 |
HP:0001336 | HP:0010531 | Spinal myoclonus | 1 | KCNQ3 CL E G H | 3786 | 306 | | | | ORPHA | 1 | | 1227 | 6297 | 602232 |
HP:0001336 | HP:0012462 | Chin myoclonus | 1 | KCNQ3 CL E G H | 3786 | 306 | | | | ORPHA | 1 | | 1227 | 6297 | 602232 |
HP:0001336 | HP:0025357 | Erratic myoclonus | 1 | KCNQ3 CL E G H | 3786 | 306 | | | | ORPHA | 1 | | 1227 | 6297 | 602232 |
HP:0001336 | HP:0003739 | Myoclonic spasms | 1 | KCNQ3 CL E G H | 3786 | 306 | | | | ORPHA | 1 | | 1227 | 6297 | 602232 |
HP:0001336 | HP:0012323 | Sleep myoclonus | 1 | KCNQ3 CL E G H | 3786 | 306 | | | | ORPHA | 1 | | 1227 | 6297 | 602232 |
HP:0001336 | HP:0007000 | Morning myoclonic jerks | 1 | KCNQ3 CL E G H | 3786 | 306 | | | | ORPHA | 1 | | 1227 | 6297 | 602232 |
HP:0001336 | HP:0031986 | Polyminimyoclonus | 1 | KCNQ3 CL E G H | 3786 | 306 | | | | ORPHA | 1 | | 1227 | 6297 | 602232 |
HP:0001336 | HP:0025097 | Eyelid myoclonus | 1 | KCTD17 CL E G H | 79734 | 616398 | Dystonia 26, myoclonic | 616398 | C4225341 | OMIM | 1 | | 144 | 25705 | 616386 |
HP:0001336 | HP:0010531 | Spinal myoclonus | 1 | KCTD17 CL E G H | 79734 | 616398 | Dystonia 26, myoclonic | 616398 | C4225341 | OMIM | 1 | | 144 | 25705 | 616386 |
HP:0001336 | HP:0012462 | Chin myoclonus | 1 | KCTD17 CL E G H | 79734 | 616398 | Dystonia 26, myoclonic | 616398 | C4225341 | OMIM | 1 | | 144 | 25705 | 616386 |
HP:0001336 | HP:0003739 | Myoclonic spasms | 1 | KCTD17 CL E G H | 79734 | 616398 | Dystonia 26, myoclonic | 616398 | C4225341 | OMIM | 1 | | 144 | 25705 | 616386 |
HP:0001336 | HP:0012323 | Sleep myoclonus | 1 | KCTD17 CL E G H | 79734 | 616398 | Dystonia 26, myoclonic | 616398 | C4225341 | OMIM | 1 | | 144 | 25705 | 616386 |
HP:0001336 | HP:0025357 | Erratic myoclonus | 1 | KCTD17 CL E G H | 79734 | 616398 | Dystonia 26, myoclonic | 616398 | C4225341 | OMIM | 1 | | 144 | 25705 | 616386 |
HP:0001336 | HP:0007000 | Morning myoclonic jerks | 1 | KCTD17 CL E G H | 79734 | 616398 | Dystonia 26, myoclonic | 616398 | C4225341 | OMIM | 1 | | 144 | 25705 | 616386 |
HP:0001336 | HP:0031986 | Polyminimyoclonus | 1 | KCTD17 CL E G H | 79734 | 616398 | Dystonia 26, myoclonic | 616398 | C4225341 | OMIM | 1 | | 144 | 25705 | 616386 |
HP:0001336 | HP:0045084 | Limb myoclonus | 1 | KCTD17 CL E G H | 79734 | 616398 | Dystonia 26, myoclonic | 616398 | C4225341 | OMIM | 1 | | 144 | 25705 | 616386 |
HP:0001336 | HP:0010530 | Palatal myoclonus | 1 | KCTD17 CL E G H | 79734 | 616398 | Dystonia 26, myoclonic | 616398 | C4225341 | OMIM | 1 | | 144 | 25705 | 616386 |
HP:0001336 | HP:0040148 | Cortical myoclonus | 1 | KCTD17 CL E G H | 79734 | 616398 | Dystonia 26, myoclonic | 616398 | C4225341 | OMIM | 1 | | 144 | 25705 | 616386 |
HP:0001336 | HP:0007000 | Morning myoclonic jerks | 1 | KIF5A CL E G H | 3798 | 617235 | Myoclonus, intractable, neonatal | 617235 | C4310658 | OMIM | 1 | | 1014 | 6323 | 602821 |
HP:0001336 | HP:0031986 | Polyminimyoclonus | 1 | KIF5A CL E G H | 3798 | 617235 | Myoclonus, intractable, neonatal | 617235 | C4310658 | OMIM | 1 | | 1014 | 6323 | 602821 |
HP:0001336 | HP:0040148 | Cortical myoclonus | 1 | KIF5A CL E G H | 3798 | 617235 | Myoclonus, intractable, neonatal | 617235 | C4310658 | OMIM | 1 | | 1014 | 6323 | 602821 |
HP:0001336 | HP:0045084 | Limb myoclonus | 1 | KIF5A CL E G H | 3798 | 617235 | Myoclonus, intractable, neonatal | 617235 | C4310658 | OMIM | 1 | | 1014 | 6323 | 602821 |
HP:0001336 | HP:0010530 | Palatal myoclonus | 1 | KIF5A CL E G H | 3798 | 617235 | Myoclonus, intractable, neonatal | 617235 | C4310658 | OMIM | 1 | | 1014 | 6323 | 602821 |
HP:0001336 | HP:0012462 | Chin myoclonus | 1 | KIF5A CL E G H | 3798 | 617235 | Myoclonus, intractable, neonatal | 617235 | C4310658 | OMIM | 1 | | 1014 | 6323 | 602821 |
HP:0001336 | HP:0025097 | Eyelid myoclonus | 1 | KIF5A CL E G H | 3798 | 617235 | Myoclonus, intractable, neonatal | 617235 | C4310658 | OMIM | 1 | | 1014 | 6323 | 602821 |
HP:0001336 | HP:0010531 | Spinal myoclonus | 1 | KIF5A CL E G H | 3798 | 617235 | Myoclonus, intractable, neonatal | 617235 | C4310658 | OMIM | 1 | | 1014 | 6323 | 602821 |
HP:0001336 | HP:0025357 | Erratic myoclonus | 1 | KIF5A CL E G H | 3798 | 617235 | Myoclonus, intractable, neonatal | 617235 | C4310658 | OMIM | 1 | | 1014 | 6323 | 602821 |
HP:0001336 | HP:0003739 | Myoclonic spasms | 1 | KIF5A CL E G H | 3798 | 617235 | Myoclonus, intractable, neonatal | 617235 | C4310658 | OMIM | 1 | | 1014 | 6323 | 602821 |
HP:0001336 | HP:0012323 | Sleep myoclonus | 1 | KIF5A CL E G H | 3798 | 617235 | Myoclonus, intractable, neonatal | 617235 | C4310658 | OMIM | 1 | | 1014 | 6323 | 602821 |
HP:0001336 | HP:0010531 | Spinal myoclonus | 1 | LIAS CL E G H | 11019 | 614462 | Pyruvate dehydrogenase lipoic acid synthetase deficiency | 614462 | C3280887 | OMIM | 1 | | 410 | 16429 | 607031 |
HP:0001336 | HP:0012462 | Chin myoclonus | 1 | LIAS CL E G H | 11019 | 614462 | Pyruvate dehydrogenase lipoic acid synthetase deficiency | 614462 | C3280887 | OMIM | 1 | | 410 | 16429 | 607031 |
HP:0001336 | HP:0025097 | Eyelid myoclonus | 1 | LIAS CL E G H | 11019 | 614462 | Pyruvate dehydrogenase lipoic acid synthetase deficiency | 614462 | C3280887 | OMIM | 1 | | 410 | 16429 | 607031 |
HP:0001336 | HP:0003739 | Myoclonic spasms | 1 | LIAS CL E G H | 11019 | 614462 | Pyruvate dehydrogenase lipoic acid synthetase deficiency | 614462 | C3280887 | OMIM | 1 | | 410 | 16429 | 607031 |
HP:0001336 | HP:0012323 | Sleep myoclonus | 1 | LIAS CL E G H | 11019 | 614462 | Pyruvate dehydrogenase lipoic acid synthetase deficiency | 614462 | C3280887 | OMIM | 1 | | 410 | 16429 | 607031 |
HP:0001336 | HP:0025357 | Erratic myoclonus | 1 | LIAS CL E G H | 11019 | 614462 | Pyruvate dehydrogenase lipoic acid synthetase deficiency | 614462 | C3280887 | OMIM | 1 | | 410 | 16429 | 607031 |
HP:0001336 | HP:0007000 | Morning myoclonic jerks | 1 | LIAS CL E G H | 11019 | 614462 | Pyruvate dehydrogenase lipoic acid synthetase deficiency | 614462 | C3280887 | OMIM | 1 | | 410 | 16429 | 607031 |
HP:0001336 | HP:0031986 | Polyminimyoclonus | 1 | LIAS CL E G H | 11019 | 614462 | Pyruvate dehydrogenase lipoic acid synthetase deficiency | 614462 | C3280887 | OMIM | 1 | | 410 | 16429 | 607031 |
HP:0001336 | HP:0045084 | Limb myoclonus | 1 | LIAS CL E G H | 11019 | 614462 | Pyruvate dehydrogenase lipoic acid synthetase deficiency | 614462 | C3280887 | OMIM | 1 | | 410 | 16429 | 607031 |
HP:0001336 | HP:0010530 | Palatal myoclonus | 1 | LIAS CL E G H | 11019 | 614462 | Pyruvate dehydrogenase lipoic acid synthetase deficiency | 614462 | C3280887 | OMIM | 1 | | 410 | 16429 | 607031 |
HP:0001336 | HP:0040148 | Cortical myoclonus | 1 | LIAS CL E G H | 11019 | 614462 | Pyruvate dehydrogenase lipoic acid synthetase deficiency | 614462 | C3280887 | OMIM | 1 | | 410 | 16429 | 607031 |
HP:0001336 | HP:0012462 | Chin myoclonus | 1 | LMNB2 CL E G H | 84823 | 616540 | Epilepsy, progressive myoclonic, 9 | 616540 | C4225289 | OMIM | 1 | | 548 | 6638 | 150341 |
HP:0001336 | HP:0025097 | Eyelid myoclonus | 1 | LMNB2 CL E G H | 84823 | 616540 | Epilepsy, progressive myoclonic, 9 | 616540 | C4225289 | OMIM | 1 | | 548 | 6638 | 150341 |
HP:0001336 | HP:0010531 | Spinal myoclonus | 1 | LMNB2 CL E G H | 84823 | 616540 | Epilepsy, progressive myoclonic, 9 | 616540 | C4225289 | OMIM | 1 | | 548 | 6638 | 150341 |
HP:0001336 | HP:0025357 | Erratic myoclonus | 1 | LMNB2 CL E G H | 84823 | 616540 | Epilepsy, progressive myoclonic, 9 | 616540 | C4225289 | OMIM | 1 | | 548 | 6638 | 150341 |
HP:0001336 | HP:0003739 | Myoclonic spasms | 1 | LMNB2 CL E G H | 84823 | 616540 | Epilepsy, progressive myoclonic, 9 | 616540 | C4225289 | OMIM | 1 | | 548 | 6638 | 150341 |
HP:0001336 | HP:0012323 | Sleep myoclonus | 1 | LMNB2 CL E G H | 84823 | 616540 | Epilepsy, progressive myoclonic, 9 | 616540 | C4225289 | OMIM | 1 | | 548 | 6638 | 150341 |
HP:0001336 | HP:0007000 | Morning myoclonic jerks | 1 | LMNB2 CL E G H | 84823 | 616540 | Epilepsy, progressive myoclonic, 9 | 616540 | C4225289 | OMIM | 1 | | 548 | 6638 | 150341 |
HP:0001336 | HP:0031986 | Polyminimyoclonus | 1 | LMNB2 CL E G H | 84823 | 616540 | Epilepsy, progressive myoclonic, 9 | 616540 | C4225289 | OMIM | 1 | | 548 | 6638 | 150341 |
HP:0001336 | HP:0040148 | Cortical myoclonus | 1 | LMNB2 CL E G H | 84823 | 616540 | Epilepsy, progressive myoclonic, 9 | 616540 | C4225289 | OMIM | 1 | | 548 | 6638 | 150341 |
HP:0001336 | HP:0045084 | Limb myoclonus | 1 | LMNB2 CL E G H | 84823 | 616540 | Epilepsy, progressive myoclonic, 9 | 616540 | C4225289 | OMIM | 1 | | 548 | 6638 | 150341 |
HP:0001336 | HP:0010530 | Palatal myoclonus | 1 | LMNB2 CL E G H | 84823 | 616540 | Epilepsy, progressive myoclonic, 9 | 616540 | C4225289 | OMIM | 1 | | 548 | 6638 | 150341 |
HP:0001336 | HP:0007000 | Morning myoclonic jerks | 1 | MAPK10 CL E G H | 5602 | 2382 | | | | ORPHA | 1 | | 70 | 6872 | 602897 |
HP:0001336 | HP:0031986 | Polyminimyoclonus | 1 | MAPK10 CL E G H | 5602 | 2382 | | | | ORPHA | 1 | | 70 | 6872 | 602897 |
HP:0001336 | HP:0040148 | Cortical myoclonus | 1 | MAPK10 CL E G H | 5602 | 2382 | | | | ORPHA | 1 | | 70 | 6872 | 602897 |
HP:0001336 | HP:0045084 | Limb myoclonus | 1 | MAPK10 CL E G H | 5602 | 2382 | | | | ORPHA | 1 | | 70 | 6872 | 602897 |
HP:0001336 | HP:0010530 | Palatal myoclonus | 1 | MAPK10 CL E G H | 5602 | 2382 | | | | ORPHA | 1 | | 70 | 6872 | 602897 |
HP:0001336 | HP:0010531 | Spinal myoclonus | 1 | MAPK10 CL E G H | 5602 | 2382 | | | | ORPHA | 1 | | 70 | 6872 | 602897 |
HP:0001336 | HP:0012462 | Chin myoclonus | 1 | MAPK10 CL E G H | 5602 | 2382 | | | | ORPHA | 1 | | 70 | 6872 | 602897 |
HP:0001336 | HP:0025097 | Eyelid myoclonus | 1 | MAPK10 CL E G H | 5602 | 2382 | | | | ORPHA | 1 | | 70 | 6872 | 602897 |
HP:0001336 | HP:0025357 | Erratic myoclonus | 1 | MAPK10 CL E G H | 5602 | 2382 | | | | ORPHA | 1 | | 70 | 6872 | 602897 |
HP:0001336 | HP:0003739 | Myoclonic spasms | 1 | MAPK10 CL E G H | 5602 | 2382 | | | | ORPHA | 1 | | 70 | 6872 | 602897 |
HP:0001336 | HP:0012323 | Sleep myoclonus | 1 | MAPK10 CL E G H | 5602 | 2382 | | | | ORPHA | 1 | | 70 | 6872 | 602897 |
HP:0001336 | HP:0007000 | Morning myoclonic jerks | 1 | MECP2 CL E G H | 4204 | 300673 | Severe neonatal-onset encephalopathy with microcephaly | 300673 | C1968556 | OMIM | 1 | | 1925 | 6990 | 300005 |
HP:0001336 | HP:0031986 | Polyminimyoclonus | 1 | MECP2 CL E G H | 4204 | 300673 | Severe neonatal-onset encephalopathy with microcephaly | 300673 | C1968556 | OMIM | 1 | | 1925 | 6990 | 300005 |
HP:0001336 | HP:0045084 | Limb myoclonus | 1 | MECP2 CL E G H | 4204 | 300673 | Severe neonatal-onset encephalopathy with microcephaly | 300673 | C1968556 | OMIM | 1 | | 1925 | 6990 | 300005 |
HP:0001336 | HP:0010530 | Palatal myoclonus | 1 | MECP2 CL E G H | 4204 | 300673 | Severe neonatal-onset encephalopathy with microcephaly | 300673 | C1968556 | OMIM | 1 | | 1925 | 6990 | 300005 |
HP:0001336 | HP:0040148 | Cortical myoclonus | 1 | MECP2 CL E G H | 4204 | 300673 | Severe neonatal-onset encephalopathy with microcephaly | 300673 | C1968556 | OMIM | 1 | | 1925 | 6990 | 300005 |
HP:0001336 | HP:0010531 | Spinal myoclonus | 1 | MECP2 CL E G H | 4204 | 300673 | Severe neonatal-onset encephalopathy with microcephaly | 300673 | C1968556 | OMIM | 1 | | 1925 | 6990 | 300005 |
HP:0001336 | HP:0012462 | Chin myoclonus | 1 | MECP2 CL E G H | 4204 | 300673 | Severe neonatal-onset encephalopathy with microcephaly | 300673 | C1968556 | OMIM | 1 | | 1925 | 6990 | 300005 |
HP:0001336 | HP:0025097 | Eyelid myoclonus | 1 | MECP2 CL E G H | 4204 | 300673 | Severe neonatal-onset encephalopathy with microcephaly | 300673 | C1968556 | OMIM | 1 | | 1925 | 6990 | 300005 |
HP:0001336 | HP:0003739 | Myoclonic spasms | 1 | MECP2 CL E G H | 4204 | 300673 | Severe neonatal-onset encephalopathy with microcephaly | 300673 | C1968556 | OMIM | 1 | | 1925 | 6990 | 300005 |
HP:0001336 | HP:0012323 | Sleep myoclonus | 1 | MECP2 CL E G H | 4204 | 300673 | Severe neonatal-onset encephalopathy with microcephaly | 300673 | C1968556 | OMIM | 1 | | 1925 | 6990 | 300005 |
HP:0001336 | HP:0025357 | Erratic myoclonus | 1 | MECP2 CL E G H | 4204 | 300673 | Severe neonatal-onset encephalopathy with microcephaly | 300673 | C1968556 | OMIM | 1 | | 1925 | 6990 | 300005 |
HP:0001336 | HP:0012323 | Sleep myoclonus | 1 | MECR CL E G H | 51102 | 617282 | Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities | 617282 | C4310634 | OMIM | 1 | | 151 | 19691 | 608205 |
HP:0001336 | HP:0025357 | Erratic myoclonus | 1 | MECR CL E G H | 51102 | 617282 | Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities | 617282 | C4310634 | OMIM | 1 | | 151 | 19691 | 608205 |
HP:0001336 | HP:0003739 | Myoclonic spasms | 1 | MECR CL E G H | 51102 | 617282 | Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities | 617282 | C4310634 | OMIM | 1 | | 151 | 19691 | 608205 |
HP:0001336 | HP:0031986 | Polyminimyoclonus | 1 | MECR CL E G H | 51102 | 617282 | Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities | 617282 | C4310634 | OMIM | 1 | | 151 | 19691 | 608205 |
HP:0001336 | HP:0007000 | Morning myoclonic jerks | 1 | MECR CL E G H | 51102 | 617282 | Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities | 617282 | C4310634 | OMIM | 1 | | 151 | 19691 | 608205 |
HP:0001336 | HP:0010530 | Palatal myoclonus | 1 | MECR CL E G H | 51102 | 617282 | Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities | 617282 | C4310634 | OMIM | 1 | | 151 | 19691 | 608205 |
HP:0001336 | HP:0040148 | Cortical myoclonus | 1 | MECR CL E G H | 51102 | 617282 | Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities | 617282 | C4310634 | OMIM | 1 | | 151 | 19691 | 608205 |
HP:0001336 | HP:0045084 | Limb myoclonus | 1 | MECR CL E G H | 51102 | 617282 | Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities | 617282 | C4310634 | OMIM | 1 | | 151 | 19691 | 608205 |
HP:0001336 | HP:0010531 | Spinal myoclonus | 1 | MECR CL E G H | 51102 | 617282 | Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities | 617282 | C4310634 | OMIM | 1 | | 151 | 19691 | 608205 |
HP:0001336 | HP:0012462 | Chin myoclonus | 1 | MECR CL E G H | 51102 | 617282 | Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities | 617282 | C4310634 | OMIM | 1 | | 151 | 19691 | 608205 |
HP:0001336 | HP:0025097 | Eyelid myoclonus | 1 | MECR CL E G H | 51102 | 617282 | Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities | 617282 | C4310634 | OMIM | 1 | | 151 | 19691 | 608205 |
HP:0001336 | HP:0012462 | Chin myoclonus | 1 | MT-TF CL E G H | 4558 | 545000 | Myoclonus with epilepsy with ragged red fibers | 545000 | C0162672 | OMIM | 1 | | | 7481 | 590070 |
HP:0001336 | HP:0025097 | Eyelid myoclonus | 1 | MT-TF CL E G H | 4558 | 545000 | Myoclonus with epilepsy with ragged red fibers | 545000 | C0162672 | OMIM | 1 | | | 7481 | 590070 |
HP:0001336 | HP:0010531 | Spinal myoclonus | 1 | MT-TF CL E G H | 4558 | 545000 | Myoclonus with epilepsy with ragged red fibers | 545000 | C0162672 | OMIM | 1 | | | 7481 | 590070 |
HP:0001336 | HP:0025357 | Erratic myoclonus | 1 | MT-TF CL E G H | 4558 | 545000 | Myoclonus with epilepsy with ragged red fibers | 545000 | C0162672 | OMIM | 1 | | | 7481 | 590070 |
HP:0001336 | HP:0003739 | Myoclonic spasms | 1 | MT-TF CL E G H | 4558 | 545000 | Myoclonus with epilepsy with ragged red fibers | 545000 | C0162672 | OMIM | 1 | | | 7481 | 590070 |
HP:0001336 | HP:0012323 | Sleep myoclonus | 1 | MT-TF CL E G H | 4558 | 545000 | Myoclonus with epilepsy with ragged red fibers | 545000 | C0162672 | OMIM | 1 | | | 7481 | 590070 |
HP:0001336 | HP:0007000 | Morning myoclonic jerks | 1 | MT-TF CL E G H | 4558 | 545000 | Myoclonus with epilepsy with ragged red fibers | 545000 | C0162672 | OMIM | 1 | | | 7481 | 590070 |
HP:0001336 | HP:0031986 | Polyminimyoclonus | 1 | MT-TF CL E G H | 4558 | 545000 | Myoclonus with epilepsy with ragged red fibers | 545000 | C0162672 | OMIM | 1 | | | 7481 | 590070 |
HP:0001336 | HP:0040148 | Cortical myoclonus | 1 | MT-TF CL E G H | 4558 | 545000 | Myoclonus with epilepsy with ragged red fibers | 545000 | C0162672 | OMIM | 1 | | | 7481 | 590070 |
HP:0001336 | HP:0045084 | Limb myoclonus | 1 | MT-TF CL E G H | 4558 | 545000 | Myoclonus with epilepsy with ragged red fibers | 545000 | C0162672 | OMIM | 1 | | | 7481 | 590070 |
HP:0001336 | HP:0010530 | Palatal myoclonus | 1 | MT-TF CL E G H | 4558 | 545000 | Myoclonus with epilepsy with ragged red fibers | 545000 | C0162672 | OMIM | 1 | | | 7481 | 590070 |
HP:0001336 | HP:0007000 | Morning myoclonic jerks | 1 | MT-TI CL E G H | 4565 | 545000 | Myoclonus with epilepsy with ragged red fibers | 545000 | C0162672 | OMIM | 1 | | | 7488 | 590045 |
HP:0001336 | HP:0031986 | Polyminimyoclonus | 1 | MT-TI CL E G H | 4565 | 545000 | Myoclonus with epilepsy with ragged red fibers | 545000 | C0162672 | OMIM | 1 | | | 7488 | 590045 |
HP:0001336 | HP:0045084 | Limb myoclonus | 1 | MT-TI CL E G H | 4565 | 545000 | Myoclonus with epilepsy with ragged red fibers | 545000 | C0162672 | OMIM | 1 | | | 7488 | 590045 |
HP:0001336 | HP:0010530 | Palatal myoclonus | 1 | MT-TI CL E G H | 4565 | 545000 | Myoclonus with epilepsy with ragged red fibers | 545000 | C0162672 | OMIM | 1 | | | 7488 | 590045 |
HP:0001336 | HP:0040148 | Cortical myoclonus | 1 | MT-TI CL E G H | 4565 | 545000 | Myoclonus with epilepsy with ragged red fibers | 545000 | C0162672 | OMIM | 1 | | | 7488 | 590045 |
HP:0001336 | HP:0010531 | Spinal myoclonus | 1 | MT-TI CL E G H | 4565 | 545000 | Myoclonus with epilepsy with ragged red fibers | 545000 | C0162672 | OMIM | 1 | | | 7488 | 590045 |
HP:0001336 | HP:0012462 | Chin myoclonus | 1 | MT-TI CL E G H | 4565 | 545000 | Myoclonus with epilepsy with ragged red fibers | 545000 | C0162672 | OMIM | 1 | | | 7488 | 590045 |
HP:0001336 | HP:0025097 | Eyelid myoclonus | 1 | MT-TI CL E G H | 4565 | 545000 | Myoclonus with epilepsy with ragged red fibers | 545000 | C0162672 | OMIM | 1 | | | 7488 | 590045 |
HP:0001336 | HP:0003739 | Myoclonic spasms | 1 | MT-TI CL E G H | 4565 | 545000 | Myoclonus with epilepsy with ragged red fibers | 545000 | C0162672 | OMIM | 1 | | | 7488 | 590045 |
HP:0001336 | HP:0012323 | Sleep myoclonus | 1 | MT-TI CL E G H | 4565 | 545000 | Myoclonus with epilepsy with ragged red fibers | 545000 | C0162672 | OMIM | 1 | | | 7488 | 590045 |
HP:0001336 | HP:0025357 | Erratic myoclonus | 1 | MT-TI CL E G H | 4565 | 545000 | Myoclonus with epilepsy with ragged red fibers | 545000 | C0162672 | OMIM | 1 | | | 7488 | 590045 |
HP:0001336 | HP:0010531 | Spinal myoclonus | 1 | MT-TK CL E G H | 4566 | 545000 | Myoclonus with epilepsy with ragged red fibers | 545000 | C0162672 | OMIM | 1 | | | 7489 | 590060 |
HP:0001336 | HP:0012462 | Chin myoclonus | 1 | MT-TK CL E G H | 4566 | 545000 | Myoclonus with epilepsy with ragged red fibers | 545000 | C0162672 | OMIM | 1 | | | 7489 | 590060 |
HP:0001336 | HP:0025097 | Eyelid myoclonus | 1 | MT-TK CL E G H | 4566 | 545000 | Myoclonus with epilepsy with ragged red fibers | 545000 | C0162672 | OMIM | 1 | | | 7489 | 590060 |
HP:0001336 | HP:0012323 | Sleep myoclonus | 1 | MT-TK CL E G H | 4566 | 545000 | Myoclonus with epilepsy with ragged red fibers | 545000 | C0162672 | OMIM | 1 | | | 7489 | 590060 |
HP:0001336 | HP:0025357 | Erratic myoclonus | 1 | MT-TK CL E G H | 4566 | 545000 | Myoclonus with epilepsy with ragged red fibers | 545000 | C0162672 | OMIM | 1 | | | 7489 | 590060 |
HP:0001336 | HP:0003739 | Myoclonic spasms | 1 | MT-TK CL E G H | 4566 | 545000 | Myoclonus with epilepsy with ragged red fibers | 545000 | C0162672 | OMIM | 1 | | | 7489 | 590060 |
HP:0001336 | HP:0031986 | Polyminimyoclonus | 1 | MT-TK CL E G H | 4566 | 545000 | Myoclonus with epilepsy with ragged red fibers | 545000 | C0162672 | OMIM | 1 | | | 7489 | 590060 |
HP:0001336 | HP:0007000 | Morning myoclonic jerks | 1 | MT-TK CL E G H | 4566 | 545000 | Myoclonus with epilepsy with ragged red fibers | 545000 | C0162672 | OMIM | 1 | | | 7489 | 590060 |
HP:0001336 | HP:0040148 | Cortical myoclonus | 1 | MT-TK CL E G H | 4566 | 545000 | Myoclonus with epilepsy with ragged red fibers | 545000 | C0162672 | OMIM | 1 | | | 7489 | 590060 |
HP:0001336 | HP:0045084 | Limb myoclonus | 1 | MT-TK CL E G H | 4566 | 545000 | Myoclonus with epilepsy with ragged red fibers | 545000 | C0162672 | OMIM | 1 | | | 7489 | 590060 |
HP:0001336 | HP:0010530 | Palatal myoclonus | 1 | MT-TK CL E G H | 4566 | 545000 | Myoclonus with epilepsy with ragged red fibers | 545000 | C0162672 | OMIM | 1 | | | 7489 | 590060 |
HP:0001336 | HP:0007000 | Morning myoclonic jerks | 1 | MT-TL1 CL E G H | 4567 | 545000 | Myoclonus with epilepsy with ragged red fibers | 545000 | C0162672 | OMIM | 1 | | | 7490 | 590050 |
HP:0001336 | HP:0031986 | Polyminimyoclonus | 1 | MT-TL1 CL E G H | 4567 | 545000 | Myoclonus with epilepsy with ragged red fibers | 545000 | C0162672 | OMIM | 1 | | | 7490 | 590050 |
HP:0001336 | HP:0040148 | Cortical myoclonus | 1 | MT-TL1 CL E G H | 4567 | 545000 | Myoclonus with epilepsy with ragged red fibers | 545000 | C0162672 | OMIM | 1 | | | 7490 | 590050 |
HP:0001336 | HP:0045084 | Limb myoclonus | 1 | MT-TL1 CL E G H | 4567 | 545000 | Myoclonus with epilepsy with ragged red fibers | 545000 | C0162672 | OMIM | 1 | | | 7490 | 590050 |
HP:0001336 | HP:0010530 | Palatal myoclonus | 1 | MT-TL1 CL E G H | 4567 | 545000 | Myoclonus with epilepsy with ragged red fibers | 545000 | C0162672 | OMIM | 1 | | | 7490 | 590050 |
HP:0001336 | HP:0012462 | Chin myoclonus | 1 | MT-TL1 CL E G H | 4567 | 545000 | Myoclonus with epilepsy with ragged red fibers | 545000 | C0162672 | OMIM | 1 | | | 7490 | 590050 |
HP:0001336 | HP:0025097 | Eyelid myoclonus | 1 | MT-TL1 CL E G H | 4567 | 545000 | Myoclonus with epilepsy with ragged red fibers | 545000 | C0162672 | OMIM | 1 | | | 7490 | 590050 |
HP:0001336 | HP:0010531 | Spinal myoclonus | 1 | MT-TL1 CL E G H | 4567 | 545000 | Myoclonus with epilepsy with ragged red fibers | 545000 | C0162672 | OMIM | 1 | | | 7490 | 590050 |
HP:0001336 | HP:0025357 | Erratic myoclonus | 1 | MT-TL1 CL E G H | 4567 | 545000 | Myoclonus with epilepsy with ragged red fibers | 545000 | C0162672 | OMIM | 1 | | | 7490 | 590050 |
HP:0001336 | HP:0003739 | Myoclonic spasms | 1 | MT-TL1 CL E G H | 4567 | 545000 | Myoclonus with epilepsy with ragged red fibers | 545000 | C0162672 | OMIM | 1 | | | 7490 | 590050 |
HP:0001336 | HP:0012323 | Sleep myoclonus | 1 | MT-TL1 CL E G H | 4567 | 545000 | Myoclonus with epilepsy with ragged red fibers | 545000 | C0162672 | OMIM | 1 | | | 7490 | 590050 |
HP:0001336 | HP:0012462 | Chin myoclonus | 1 | MT-TP CL E G H | 4571 | 545000 | Myoclonus with epilepsy with ragged red fibers | 545000 | C0162672 | OMIM | 1 | | | 7494 | 590075 |
HP:0001336 | HP:0025097 | Eyelid myoclonus | 1 | MT-TP CL E G H | 4571 | 545000 | Myoclonus with epilepsy with ragged red fibers | 545000 | C0162672 | OMIM | 1 | | | 7494 | 590075 |
HP:0001336 | HP:0010531 | Spinal myoclonus | 1 | MT-TP CL E G H | 4571 | 545000 | Myoclonus with epilepsy with ragged red fibers | 545000 | C0162672 | OMIM | 1 | | | 7494 | 590075 |
HP:0001336 | HP:0025357 | Erratic myoclonus | 1 | MT-TP CL E G H | 4571 | 545000 | Myoclonus with epilepsy with ragged red fibers | 545000 | C0162672 | OMIM | 1 | | | 7494 | 590075 |
HP:0001336 | HP:0003739 | Myoclonic spasms | 1 | MT-TP CL E G H | 4571 | 545000 | Myoclonus with epilepsy with ragged red fibers | 545000 | C0162672 | OMIM | 1 | | | 7494 | 590075 |
HP:0001336 | HP:0012323 | Sleep myoclonus | 1 | MT-TP CL E G H | 4571 | 545000 | Myoclonus with epilepsy with ragged red fibers | 545000 | C0162672 | OMIM | 1 | | | 7494 | 590075 |
HP:0001336 | HP:0007000 | Morning myoclonic jerks | 1 | MT-TP CL E G H | 4571 | 545000 | Myoclonus with epilepsy with ragged red fibers | 545000 | C0162672 | OMIM | 1 | | | 7494 | 590075 |
HP:0001336 | HP:0031986 | Polyminimyoclonus | 1 | MT-TP CL E G H | 4571 | 545000 | Myoclonus with epilepsy with ragged red fibers | 545000 | C0162672 | OMIM | 1 | | | 7494 | 590075 |
HP:0001336 | HP:0040148 | Cortical myoclonus | 1 | MT-TP CL E G H | 4571 | 545000 | Myoclonus with epilepsy with ragged red fibers | 545000 | C0162672 | OMIM | 1 | | | 7494 | 590075 |
HP:0001336 | HP:0045084 | Limb myoclonus | 1 | MT-TP CL E G H | 4571 | 545000 | Myoclonus with epilepsy with ragged red fibers | 545000 | C0162672 | OMIM | 1 | | | 7494 | 590075 |
HP:0001336 | HP:0010530 | Palatal myoclonus | 1 | MT-TP CL E G H | 4571 | 545000 | Myoclonus with epilepsy with ragged red fibers | 545000 | C0162672 | OMIM | 1 | | | 7494 | 590075 |
HP:0001336 | HP:0007000 | Morning myoclonic jerks | 1 | MTPAP CL E G H | 55149 | 254343 | | | | ORPHA | 1 | | 346 | 25532 | 613669 |
HP:0001336 | HP:0031986 | Polyminimyoclonus | 1 | MTPAP CL E G H | 55149 | 254343 | | | | ORPHA | 1 | | 346 | 25532 | 613669 |
HP:0001336 | HP:0040148 | Cortical myoclonus | 1 | MTPAP CL E G H | 55149 | 254343 | | | | ORPHA | 1 | | 346 | 25532 | 613669 |
HP:0001336 | HP:0045084 | Limb myoclonus | 1 | MTPAP CL E G H | 55149 | 254343 | | | | ORPHA | 1 | | 346 | 25532 | 613669 |
HP:0001336 | HP:0010530 | Palatal myoclonus | 1 | MTPAP CL E G H | 55149 | 254343 | | | | ORPHA | 1 | | 346 | 25532 | 613669 |
HP:0001336 | HP:0012462 | Chin myoclonus | 1 | MTPAP CL E G H | 55149 | 254343 | | | | ORPHA | 1 | | 346 | 25532 | 613669 |
HP:0001336 | HP:0025097 | Eyelid myoclonus | 1 | MTPAP CL E G H | 55149 | 254343 | | | | ORPHA | 1 | | 346 | 25532 | 613669 |
HP:0001336 | HP:0010531 | Spinal myoclonus | 1 | MTPAP CL E G H | 55149 | 254343 | | | | ORPHA | 1 | | 346 | 25532 | 613669 |
HP:0001336 | HP:0025357 | Erratic myoclonus | 1 | MTPAP CL E G H | 55149 | 254343 | | | | ORPHA | 1 | | 346 | 25532 | 613669 |
HP:0001336 | HP:0003739 | Myoclonic spasms | 1 | MTPAP CL E G H | 55149 | 254343 | | | | ORPHA | 1 | | 346 | 25532 | 613669 |
HP:0001336 | HP:0012323 | Sleep myoclonus | 1 | MTPAP CL E G H | 55149 | 254343 | | | | ORPHA | 1 | | 346 | 25532 | 613669 |
HP:0001336 | HP:0007000 | Morning myoclonic jerks | 1 | NAGA CL E G H | 4668 | 79279 | | | | ORPHA | 1 | | 230 | 7631 | 104170 |
HP:0001336 | HP:0031986 | Polyminimyoclonus | 1 | NAGA CL E G H | 4668 | 79279 | | | | ORPHA | 1 | | 230 | 7631 | 104170 |
HP:0001336 | HP:0040148 | Cortical myoclonus | 1 | NAGA CL E G H | 4668 | 79279 | | | | ORPHA | 1 | | 230 | 7631 | 104170 |
HP:0001336 | HP:0045084 | Limb myoclonus | 1 | NAGA CL E G H | 4668 | 79279 | | | | ORPHA | 1 | | 230 | 7631 | 104170 |
HP:0001336 | HP:0010530 | Palatal myoclonus | 1 | NAGA CL E G H | 4668 | 79279 | | | | ORPHA | 1 | | 230 | 7631 | 104170 |
HP:0001336 | HP:0010531 | Spinal myoclonus | 1 | NAGA CL E G H | 4668 | 79279 | | | | ORPHA | 1 | | 230 | 7631 | 104170 |
HP:0001336 | HP:0012462 | Chin myoclonus | 1 | NAGA CL E G H | 4668 | 79279 | | | | ORPHA | 1 | | 230 | 7631 | 104170 |
HP:0001336 | HP:0025097 | Eyelid myoclonus | 1 | NAGA CL E G H | 4668 | 79279 | | | | ORPHA | 1 | | 230 | 7631 | 104170 |
HP:0001336 | HP:0012323 | Sleep myoclonus | 1 | NAGA CL E G H | 4668 | 79279 | | | | ORPHA | 1 | | 230 | 7631 | 104170 |
HP:0001336 | HP:0025357 | Erratic myoclonus | 1 | NAGA CL E G H | 4668 | 79279 | | | | ORPHA | 1 | | 230 | 7631 | 104170 |
HP:0001336 | HP:0003739 | Myoclonic spasms | 1 | NAGA CL E G H | 4668 | 79279 | | | | ORPHA | 1 | | 230 | 7631 | 104170 |
HP:0001336 | HP:0007000 | Morning myoclonic jerks | 1 | NAGA CL E G H | 4668 | 609241 | Schindler disease, type 1 | 609241 | C1836544 | OMIM | 1 | | 230 | 7631 | 104170 |
HP:0001336 | HP:0031986 | Polyminimyoclonus | 1 | NAGA CL E G H | 4668 | 609241 | Schindler disease, type 1 | 609241 | C1836544 | OMIM | 1 | | 230 | 7631 | 104170 |
HP:0001336 | HP:0045084 | Limb myoclonus | 1 | NAGA CL E G H | 4668 | 609241 | Schindler disease, type 1 | 609241 | C1836544 | OMIM | 1 | | 230 | 7631 | 104170 |
HP:0001336 | HP:0010530 | Palatal myoclonus | 1 | NAGA CL E G H | 4668 | 609241 | Schindler disease, type 1 | 609241 | C1836544 | OMIM | 1 | | 230 | 7631 | 104170 |
HP:0001336 | HP:0040148 | Cortical myoclonus | 1 | NAGA CL E G H | 4668 | 609241 | Schindler disease, type 1 | 609241 | C1836544 | OMIM | 1 | | 230 | 7631 | 104170 |
HP:0001336 | HP:0025097 | Eyelid myoclonus | 1 | NAGA CL E G H | 4668 | 609241 | Schindler disease, type 1 | 609241 | C1836544 | OMIM | 1 | | 230 | 7631 | 104170 |
HP:0001336 | HP:0010531 | Spinal myoclonus | 1 | NAGA CL E G H | 4668 | 609241 | Schindler disease, type 1 | 609241 | C1836544 | OMIM | 1 | | 230 | 7631 | 104170 |
HP:0001336 | HP:0012462 | Chin myoclonus | 1 | NAGA CL E G H | 4668 | 609241 | Schindler disease, type 1 | 609241 | C1836544 | OMIM | 1 | | 230 | 7631 | 104170 |
HP:0001336 | HP:0003739 | Myoclonic spasms | 1 | NAGA CL E G H | 4668 | 609241 | Schindler disease, type 1 | 609241 | C1836544 | OMIM | 1 | | 230 | 7631 | 104170 |
HP:0001336 | HP:0012323 | Sleep myoclonus | 1 | NAGA CL E G H | 4668 | 609241 | Schindler disease, type 1 | 609241 | C1836544 | OMIM | 1 | | 230 | 7631 | 104170 |
HP:0001336 | HP:0025357 | Erratic myoclonus | 1 | NAGA CL E G H | 4668 | 609241 | Schindler disease, type 1 | 609241 | C1836544 | OMIM | 1 | | 230 | 7631 | 104170 |
HP:0001336 | HP:0040148 | Cortical myoclonus | 1 | NDUFAF3 CL E G H | 25915 | 618240 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 18 | 618240 | | OMIM | 1 | | 123 | 29918 | 612911 |
HP:0001336 | HP:0045084 | Limb myoclonus | 1 | NDUFAF3 CL E G H | 25915 | 618240 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 18 | 618240 | | OMIM | 1 | | 123 | 29918 | 612911 |
HP:0001336 | HP:0010530 | Palatal myoclonus | 1 | NDUFAF3 CL E G H | 25915 | 618240 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 18 | 618240 | | OMIM | 1 | | 123 | 29918 | 612911 |
HP:0001336 | HP:0012462 | Chin myoclonus | 1 | NDUFAF3 CL E G H | 25915 | 618240 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 18 | 618240 | | OMIM | 1 | | 123 | 29918 | 612911 |
HP:0001336 | HP:0025097 | Eyelid myoclonus | 1 | NDUFAF3 CL E G H | 25915 | 618240 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 18 | 618240 | | OMIM | 1 | | 123 | 29918 | 612911 |
HP:0001336 | HP:0010531 | Spinal myoclonus | 1 | NDUFAF3 CL E G H | 25915 | 618240 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 18 | 618240 | | OMIM | 1 | | 123 | 29918 | 612911 |
HP:0001336 | HP:0025357 | Erratic myoclonus | 1 | NDUFAF3 CL E G H | 25915 | 618240 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 18 | 618240 | | OMIM | 1 | | 123 | 29918 | 612911 |
HP:0001336 | HP:0003739 | Myoclonic spasms | 1 | NDUFAF3 CL E G H | 25915 | 618240 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 18 | 618240 | | OMIM | 1 | | 123 | 29918 | 612911 |
HP:0001336 | HP:0012323 | Sleep myoclonus | 1 | NDUFAF3 CL E G H | 25915 | 618240 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 18 | 618240 | | OMIM | 1 | | 123 | 29918 | 612911 |
HP:0001336 | HP:0007000 | Morning myoclonic jerks | 1 | NDUFAF3 CL E G H | 25915 | 618240 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 18 | 618240 | | OMIM | 1 | | 123 | 29918 | 612911 |
HP:0001336 | HP:0031986 | Polyminimyoclonus | 1 | NDUFAF3 CL E G H | 25915 | 618240 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 18 | 618240 | | OMIM | 1 | | 123 | 29918 | 612911 |
HP:0001336 | HP:0012323 | Sleep myoclonus | 1 | NDUFV1 CL E G H | 4723 | 618225 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 4 | 618225 | | OMIM | 1 | | 315 | 7716 | 161015 |
HP:0001336 | HP:0025357 | Erratic myoclonus | 1 | NDUFV1 CL E G H | 4723 | 618225 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 4 | 618225 | | OMIM | 1 | | 315 | 7716 | 161015 |
HP:0001336 | HP:0003739 | Myoclonic spasms | 1 | NDUFV1 CL E G H | 4723 | 618225 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 4 | 618225 | | OMIM | 1 | | 315 | 7716 | 161015 |
HP:0001336 | HP:0031986 | Polyminimyoclonus | 1 | NDUFV1 CL E G H | 4723 | 618225 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 4 | 618225 | | OMIM | 1 | | 315 | 7716 | 161015 |
HP:0001336 | HP:0007000 | Morning myoclonic jerks | 1 | NDUFV1 CL E G H | 4723 | 618225 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 4 | 618225 | | OMIM | 1 | | 315 | 7716 | 161015 |
HP:0001336 | HP:0010530 | Palatal myoclonus | 1 | NDUFV1 CL E G H | 4723 | 618225 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 4 | 618225 | | OMIM | 1 | | 315 | 7716 | 161015 |
HP:0001336 | HP:0040148 | Cortical myoclonus | 1 | NDUFV1 CL E G H | 4723 | 618225 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 4 | 618225 | | OMIM | 1 | | 315 | 7716 | 161015 |
HP:0001336 | HP:0045084 | Limb myoclonus | 1 | NDUFV1 CL E G H | 4723 | 618225 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 4 | 618225 | | OMIM | 1 | | 315 | 7716 | 161015 |
HP:0001336 | HP:0010531 | Spinal myoclonus | 1 | NDUFV1 CL E G H | 4723 | 618225 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 4 | 618225 | | OMIM | 1 | | 315 | 7716 | 161015 |
HP:0001336 | HP:0012462 | Chin myoclonus | 1 | NDUFV1 CL E G H | 4723 | 618225 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 4 | 618225 | | OMIM | 1 | | 315 | 7716 | 161015 |
HP:0001336 | HP:0025097 | Eyelid myoclonus | 1 | NDUFV1 CL E G H | 4723 | 618225 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 4 | 618225 | | OMIM | 1 | | 315 | 7716 | 161015 |
HP:0001336 | HP:0012323 | Sleep myoclonus | 1 | NEU1 CL E G H | 4758 | 812 | | | | ORPHA | 1 | | 185 | 7758 | 608272 |
HP:0001336 | HP:0025357 | Erratic myoclonus | 1 | NEU1 CL E G H | 4758 | 812 | | | | ORPHA | 1 | | 185 | 7758 | 608272 |
HP:0001336 | HP:0003739 | Myoclonic spasms | 1 | NEU1 CL E G H | 4758 | 812 | | | | ORPHA | 1 | | 185 | 7758 | 608272 |
HP:0001336 | HP:0031986 | Polyminimyoclonus | 1 | NEU1 CL E G H | 4758 | 812 | | | | ORPHA | 1 | | 185 | 7758 | 608272 |
HP:0001336 | HP:0007000 | Morning myoclonic jerks | 1 | NEU1 CL E G H | 4758 | 812 | | | | ORPHA | 1 | | 185 | 7758 | 608272 |
HP:0001336 | HP:0010530 | Palatal myoclonus | 1 | NEU1 CL E G H | 4758 | 812 | | | | ORPHA | 1 | | 185 | 7758 | 608272 |
HP:0001336 | HP:0040148 | Cortical myoclonus | 1 | NEU1 CL E G H | 4758 | 812 | | | | ORPHA | 1 | | 185 | 7758 | 608272 |
HP:0001336 | HP:0045084 | Limb myoclonus | 1 | NEU1 CL E G H | 4758 | 812 | | | | ORPHA | 1 | | 185 | 7758 | 608272 |
HP:0001336 | HP:0010531 | Spinal myoclonus | 1 | NEU1 CL E G H | 4758 | 812 | | | | ORPHA | 1 | | 185 | 7758 | 608272 |
HP:0001336 | HP:0012462 | Chin myoclonus | 1 | NEU1 CL E G H | 4758 | 812 | | | | ORPHA | 1 | | 185 | 7758 | 608272 |
HP:0001336 | HP:0025097 | Eyelid myoclonus | 1 | NEU1 CL E G H | 4758 | 812 | | | | ORPHA | 1 | | 185 | 7758 | 608272 |
HP:0001336 | HP:0012462 | Chin myoclonus | 1 | NEU1 CL E G H | 4758 | 256550 | Sialidosis, type II | 256550 | C0268226 | OMIM | 1 | | 185 | 7758 | 608272 |
HP:0001336 | HP:0025097 | Eyelid myoclonus | 1 | NEU1 CL E G H | 4758 | 256550 | Sialidosis, type II | 256550 | C0268226 | OMIM | 1 | | 185 | 7758 | 608272 |
HP:0001336 | HP:0010531 | Spinal myoclonus | 1 | NEU1 CL E G H | 4758 | 256550 | Sialidosis, type II | 256550 | C0268226 | OMIM | 1 | | 185 | 7758 | 608272 |
HP:0001336 | HP:0025357 | Erratic myoclonus | 1 | NEU1 CL E G H | 4758 | 256550 | Sialidosis, type II | 256550 | C0268226 | OMIM | 1 | | 185 | 7758 | 608272 |
HP:0001336 | HP:0003739 | Myoclonic spasms | 1 | NEU1 CL E G H | 4758 | 256550 | Sialidosis, type II | 256550 | C0268226 | OMIM | 1 | | 185 | 7758 | 608272 |
HP:0001336 | HP:0012323 | Sleep myoclonus | 1 | NEU1 CL E G H | 4758 | 256550 | Sialidosis, type II | 256550 | C0268226 | OMIM | 1 | | 185 | 7758 | 608272 |
HP:0001336 | HP:0007000 | Morning myoclonic jerks | 1 | NEU1 CL E G H | 4758 | 256550 | Sialidosis, type II | 256550 | C0268226 | OMIM | 1 | | 185 | 7758 | 608272 |
HP:0001336 | HP:0031986 | Polyminimyoclonus | 1 | NEU1 CL E G H | 4758 | 256550 | Sialidosis, type II | 256550 | C0268226 | OMIM | 1 | | 185 | 7758 | 608272 |
HP:0001336 | HP:0040148 | Cortical myoclonus | 1 | NEU1 CL E G H | 4758 | 256550 | Sialidosis, type II | 256550 | C0268226 | OMIM | 1 | | 185 | 7758 | 608272 |
HP:0001336 | HP:0045084 | Limb myoclonus | 1 | NEU1 CL E G H | 4758 | 256550 | Sialidosis, type II | 256550 | C0268226 | OMIM | 1 | | 185 | 7758 | 608272 |
HP:0001336 | HP:0010530 | Palatal myoclonus | 1 | NEU1 CL E G H | 4758 | 256550 | Sialidosis, type II | 256550 | C0268226 | OMIM | 1 | | 185 | 7758 | 608272 |
HP:0001336 | HP:0010531 | Spinal myoclonus | 1 | NGLY1 CL E G H | 55768 | 615273 | Congenital disorder of deglycosylation | 615273 | C3808991 | OMIM | 1 | | 656 | 17646 | 610661 |
HP:0001336 | HP:0012462 | Chin myoclonus | 1 | NGLY1 CL E G H | 55768 | 615273 | Congenital disorder of deglycosylation | 615273 | C3808991 | OMIM | 1 | | 656 | 17646 | 610661 |
HP:0001336 | HP:0025097 | Eyelid myoclonus | 1 | NGLY1 CL E G H | 55768 | 615273 | Congenital disorder of deglycosylation | 615273 | C3808991 | OMIM | 1 | | 656 | 17646 | 610661 |
HP:0001336 | HP:0003739 | Myoclonic spasms | 1 | NGLY1 CL E G H | 55768 | 615273 | Congenital disorder of deglycosylation | 615273 | C3808991 | OMIM | 1 | | 656 | 17646 | 610661 |
HP:0001336 | HP:0012323 | Sleep myoclonus | 1 | NGLY1 CL E G H | 55768 | 615273 | Congenital disorder of deglycosylation | 615273 | C3808991 | OMIM | 1 | | 656 | 17646 | 610661 |
HP:0001336 | HP:0025357 | Erratic myoclonus | 1 | NGLY1 CL E G H | 55768 | 615273 | Congenital disorder of deglycosylation | 615273 | C3808991 | OMIM | 1 | | 656 | 17646 | 610661 |
HP:0001336 | HP:0007000 | Morning myoclonic jerks | 1 | NGLY1 CL E G H | 55768 | 615273 | Congenital disorder of deglycosylation | 615273 | C3808991 | OMIM | 1 | | 656 | 17646 | 610661 |
HP:0001336 | HP:0031986 | Polyminimyoclonus | 1 | NGLY1 CL E G H | 55768 | 615273 | Congenital disorder of deglycosylation | 615273 | C3808991 | OMIM | 1 | | 656 | 17646 | 610661 |
HP:0001336 | HP:0045084 | Limb myoclonus | 1 | NGLY1 CL E G H | 55768 | 615273 | Congenital disorder of deglycosylation | 615273 | C3808991 | OMIM | 1 | | 656 | 17646 | 610661 |
HP:0001336 | HP:0010530 | Palatal myoclonus | 1 | NGLY1 CL E G H | 55768 | 615273 | Congenital disorder of deglycosylation | 615273 | C3808991 | OMIM | 1 | | 656 | 17646 | 610661 |
HP:0001336 | HP:0040148 | Cortical myoclonus | 1 | NGLY1 CL E G H | 55768 | 615273 | Congenital disorder of deglycosylation | 615273 | C3808991 | OMIM | 1 | | 656 | 17646 | 610661 |
HP:0001336 | HP:0007000 | Morning myoclonic jerks | 1 | NHLRC1 CL E G H | 378884 | 254780 | Lafora disease | 254780 | C0751783 | OMIM | 1 | | 351 | 21576 | 608072 |
HP:0001336 | HP:0031986 | Polyminimyoclonus | 1 | NHLRC1 CL E G H | 378884 | 254780 | Lafora disease | 254780 | C0751783 | OMIM | 1 | | 351 | 21576 | 608072 |
HP:0001336 | HP:0040148 | Cortical myoclonus | 1 | NHLRC1 CL E G H | 378884 | 254780 | Lafora disease | 254780 | C0751783 | OMIM | 1 | | 351 | 21576 | 608072 |
HP:0001336 | HP:0045084 | Limb myoclonus | 1 | NHLRC1 CL E G H | 378884 | 254780 | Lafora disease | 254780 | C0751783 | OMIM | 1 | | 351 | 21576 | 608072 |
HP:0001336 | HP:0010530 | Palatal myoclonus | 1 | NHLRC1 CL E G H | 378884 | 254780 | Lafora disease | 254780 | C0751783 | OMIM | 1 | | 351 | 21576 | 608072 |
HP:0001336 | HP:0025097 | Eyelid myoclonus | 1 | NHLRC1 CL E G H | 378884 | 254780 | Lafora disease | 254780 | C0751783 | OMIM | 1 | | 351 | 21576 | 608072 |
HP:0001336 | HP:0010531 | Spinal myoclonus | 1 | NHLRC1 CL E G H | 378884 | 254780 | Lafora disease | 254780 | C0751783 | OMIM | 1 | | 351 | 21576 | 608072 |
HP:0001336 | HP:0012462 | Chin myoclonus | 1 | NHLRC1 CL E G H | 378884 | 254780 | Lafora disease | 254780 | C0751783 | OMIM | 1 | | 351 | 21576 | 608072 |
HP:0001336 | HP:0025357 | Erratic myoclonus | 1 | NHLRC1 CL E G H | 378884 | 254780 | Lafora disease | 254780 | C0751783 | OMIM | 1 | | 351 | 21576 | 608072 |
HP:0001336 | HP:0003739 | Myoclonic spasms | 1 | NHLRC1 CL E G H | 378884 | 254780 | Lafora disease | 254780 | C0751783 | OMIM | 1 | | 351 | 21576 | 608072 |
HP:0001336 | HP:0012323 | Sleep myoclonus | 1 | NHLRC1 CL E G H | 378884 | 254780 | Lafora disease | 254780 | C0751783 | OMIM | 1 | | 351 | 21576 | 608072 |
HP:0001336 | HP:0007000 | Morning myoclonic jerks | 1 | NME1 CL E G H | 4830 | 256700 | Neuroblastoma | 256700 | C0027819 | OMIM | 1 | | 16 | 7849 | 156490 |
HP:0001336 | HP:0031986 | Polyminimyoclonus | 1 | NME1 CL E G H | 4830 | 256700 | Neuroblastoma | 256700 | C0027819 | OMIM | 1 | | 16 | 7849 | 156490 |
HP:0001336 | HP:0040148 | Cortical myoclonus | 1 | NME1 CL E G H | 4830 | 256700 | Neuroblastoma | 256700 | C0027819 | OMIM | 1 | | 16 | 7849 | 156490 |
HP:0001336 | HP:0045084 | Limb myoclonus | 1 | NME1 CL E G H | 4830 | 256700 | Neuroblastoma | 256700 | C0027819 | OMIM | 1 | | 16 | 7849 | 156490 |
HP:0001336 | HP:0010530 | Palatal myoclonus | 1 | NME1 CL E G H | 4830 | 256700 | Neuroblastoma | 256700 | C0027819 | OMIM | 1 | | 16 | 7849 | 156490 |
HP:0001336 | HP:0025097 | Eyelid myoclonus | 1 | NME1 CL E G H | 4830 | 256700 | Neuroblastoma | 256700 | C0027819 | OMIM | 1 | | 16 | 7849 | 156490 |
HP:0001336 | HP:0010531 | Spinal myoclonus | 1 | NME1 CL E G H | 4830 | 256700 | Neuroblastoma | 256700 | C0027819 | OMIM | 1 | | 16 | 7849 | 156490 |
HP:0001336 | HP:0012462 | Chin myoclonus | 1 | NME1 CL E G H | 4830 | 256700 | Neuroblastoma | 256700 | C0027819 | OMIM | 1 | | 16 | 7849 | 156490 |
HP:0001336 | HP:0025357 | Erratic myoclonus | 1 | NME1 CL E G H | 4830 | 256700 | Neuroblastoma | 256700 | C0027819 | OMIM | 1 | | 16 | 7849 | 156490 |
HP:0001336 | HP:0003739 | Myoclonic spasms | 1 | NME1 CL E G H | 4830 | 256700 | Neuroblastoma | 256700 | C0027819 | OMIM | 1 | | 16 | 7849 | 156490 |
HP:0001336 | HP:0012323 | Sleep myoclonus | 1 | NME1 CL E G H | 4830 | 256700 | Neuroblastoma | 256700 | C0027819 | OMIM | 1 | | 16 | 7849 | 156490 |
HP:0001336 | HP:0031986 | Polyminimyoclonus | 1 | NOL3 CL E G H | 8996 | 614937 | Myoclonus, familial cortical | 614937 | C3539916 | OMIM | 1 | | 57 | 7869 | 605235 |
HP:0001336 | HP:0007000 | Morning myoclonic jerks | 1 | NOL3 CL E G H | 8996 | 614937 | Myoclonus, familial cortical | 614937 | C3539916 | OMIM | 1 | | 57 | 7869 | 605235 |
HP:0001336 | HP:0040148 | Cortical myoclonus | 1 | NOL3 CL E G H | 8996 | 614937 | Myoclonus, familial cortical | 614937 | C3539916 | OMIM | 1 | | 57 | 7869 | 605235 |
HP:0001336 | HP:0045084 | Limb myoclonus | 1 | NOL3 CL E G H | 8996 | 614937 | Myoclonus, familial cortical | 614937 | C3539916 | OMIM | 1 | | 57 | 7869 | 605235 |
HP:0001336 | HP:0010530 | Palatal myoclonus | 1 | NOL3 CL E G H | 8996 | 614937 | Myoclonus, familial cortical | 614937 | C3539916 | OMIM | 1 | | 57 | 7869 | 605235 |
HP:0001336 | HP:0010531 | Spinal myoclonus | 1 | NOL3 CL E G H | 8996 | 614937 | Myoclonus, familial cortical | 614937 | C3539916 | OMIM | 1 | | 57 | 7869 | 605235 |
HP:0001336 | HP:0012462 | Chin myoclonus | 1 | NOL3 CL E G H | 8996 | 614937 | Myoclonus, familial cortical | 614937 | C3539916 | OMIM | 1 | | 57 | 7869 | 605235 |
HP:0001336 | HP:0025097 | Eyelid myoclonus | 1 | NOL3 CL E G H | 8996 | 614937 | Myoclonus, familial cortical | 614937 | C3539916 | OMIM | 1 | | 57 | 7869 | 605235 |
HP:0001336 | HP:0012323 | Sleep myoclonus | 1 | NOL3 CL E G H | 8996 | 614937 | Myoclonus, familial cortical | 614937 | C3539916 | OMIM | 1 | | 57 | 7869 | 605235 |
HP:0001336 | HP:0025357 | Erratic myoclonus | 1 | NOL3 CL E G H | 8996 | 614937 | Myoclonus, familial cortical | 614937 | C3539916 | OMIM | 1 | | 57 | 7869 | 605235 |
HP:0001336 | HP:0003739 | Myoclonic spasms | 1 | NOL3 CL E G H | 8996 | 614937 | Myoclonus, familial cortical | 614937 | C3539916 | OMIM | 1 | | 57 | 7869 | 605235 |
HP:0001336 | HP:0012462 | Chin myoclonus | 1 | NTRK2 CL E G H | 4915 | 3451 | Meier Blumberg Imahorn syndrome | | | ORPHA | 1 | | 509 | 8032 | 600456 |
HP:0001336 | HP:0025097 | Eyelid myoclonus | 1 | NTRK2 CL E G H | 4915 | 3451 | Meier Blumberg Imahorn syndrome | | | ORPHA | 1 | | 509 | 8032 | 600456 |
HP:0001336 | HP:0010531 | Spinal myoclonus | 1 | NTRK2 CL E G H | 4915 | 3451 | Meier Blumberg Imahorn syndrome | | | ORPHA | 1 | | 509 | 8032 | 600456 |
HP:0001336 | HP:0025357 | Erratic myoclonus | 1 | NTRK2 CL E G H | 4915 | 3451 | Meier Blumberg Imahorn syndrome | | | ORPHA | 1 | | 509 | 8032 | 600456 |
HP:0001336 | HP:0003739 | Myoclonic spasms | 1 | NTRK2 CL E G H | 4915 | 3451 | Meier Blumberg Imahorn syndrome | | | ORPHA | 1 | | 509 | 8032 | 600456 |
HP:0001336 | HP:0012323 | Sleep myoclonus | 1 | NTRK2 CL E G H | 4915 | 3451 | Meier Blumberg Imahorn syndrome | | | ORPHA | 1 | | 509 | 8032 | 600456 |
HP:0001336 | HP:0007000 | Morning myoclonic jerks | 1 | NTRK2 CL E G H | 4915 | 3451 | Meier Blumberg Imahorn syndrome | | | ORPHA | 1 | | 509 | 8032 | 600456 |
HP:0001336 | HP:0031986 | Polyminimyoclonus | 1 | NTRK2 CL E G H | 4915 | 3451 | Meier Blumberg Imahorn syndrome | | | ORPHA | 1 | | 509 | 8032 | 600456 |
HP:0001336 | HP:0040148 | Cortical myoclonus | 1 | NTRK2 CL E G H | 4915 | 3451 | Meier Blumberg Imahorn syndrome | | | ORPHA | 1 | | 509 | 8032 | 600456 |
HP:0001336 | HP:0045084 | Limb myoclonus | 1 | NTRK2 CL E G H | 4915 | 3451 | Meier Blumberg Imahorn syndrome | | | ORPHA | 1 | | 509 | 8032 | 600456 |
HP:0001336 | HP:0010530 | Palatal myoclonus | 1 | NTRK2 CL E G H | 4915 | 3451 | Meier Blumberg Imahorn syndrome | | | ORPHA | 1 | | 509 | 8032 | 600456 |
HP:0001336 | HP:0007000 | Morning myoclonic jerks | 1 | PHACTR1 CL E G H | 221692 | 3451 | Meier Blumberg Imahorn syndrome | | | ORPHA | 1 | | 97 | 20990 | 608723 |
HP:0001336 | HP:0031986 | Polyminimyoclonus | 1 | PHACTR1 CL E G H | 221692 | 3451 | Meier Blumberg Imahorn syndrome | | | ORPHA | 1 | | 97 | 20990 | 608723 |
HP:0001336 | HP:0045084 | Limb myoclonus | 1 | PHACTR1 CL E G H | 221692 | 3451 | Meier Blumberg Imahorn syndrome | | | ORPHA | 1 | | 97 | 20990 | 608723 |
HP:0001336 | HP:0010530 | Palatal myoclonus | 1 | PHACTR1 CL E G H | 221692 | 3451 | Meier Blumberg Imahorn syndrome | | | ORPHA | 1 | | 97 | 20990 | 608723 |
HP:0001336 | HP:0040148 | Cortical myoclonus | 1 | PHACTR1 CL E G H | 221692 | 3451 | Meier Blumberg Imahorn syndrome | | | ORPHA | 1 | | 97 | 20990 | 608723 |
HP:0001336 | HP:0025097 | Eyelid myoclonus | 1 | PHACTR1 CL E G H | 221692 | 3451 | Meier Blumberg Imahorn syndrome | | | ORPHA | 1 | | 97 | 20990 | 608723 |
HP:0001336 | HP:0010531 | Spinal myoclonus | 1 | PHACTR1 CL E G H | 221692 | 3451 | Meier Blumberg Imahorn syndrome | | | ORPHA | 1 | | 97 | 20990 | 608723 |
HP:0001336 | HP:0012462 | Chin myoclonus | 1 | PHACTR1 CL E G H | 221692 | 3451 | Meier Blumberg Imahorn syndrome | | | ORPHA | 1 | | 97 | 20990 | 608723 |
HP:0001336 | HP:0025357 | Erratic myoclonus | 1 | PHACTR1 CL E G H | 221692 | 3451 | Meier Blumberg Imahorn syndrome | | | ORPHA | 1 | | 97 | 20990 | 608723 |
HP:0001336 | HP:0003739 | Myoclonic spasms | 1 | PHACTR1 CL E G H | 221692 | 3451 | Meier Blumberg Imahorn syndrome | | | ORPHA | 1 | | 97 | 20990 | 608723 |
HP:0001336 | HP:0012323 | Sleep myoclonus | 1 | PHACTR1 CL E G H | 221692 | 3451 | Meier Blumberg Imahorn syndrome | | | ORPHA | 1 | | 97 | 20990 | 608723 |
HP:0001336 | HP:0010531 | Spinal myoclonus | 1 | PIGA CL E G H | 5277 | 3451 | Meier Blumberg Imahorn syndrome | | | ORPHA | 1 | | 483 | 8957 | 311770 |
HP:0001336 | HP:0012462 | Chin myoclonus | 1 | PIGA CL E G H | 5277 | 3451 | Meier Blumberg Imahorn syndrome | | | ORPHA | 1 | | 483 | 8957 | 311770 |
HP:0001336 | HP:0025097 | Eyelid myoclonus | 1 | PIGA CL E G H | 5277 | 3451 | Meier Blumberg Imahorn syndrome | | | ORPHA | 1 | | 483 | 8957 | 311770 |
HP:0001336 | HP:0003739 | Myoclonic spasms | 1 | PIGA CL E G H | 5277 | 3451 | Meier Blumberg Imahorn syndrome | | | ORPHA | 1 | | 483 | 8957 | 311770 |
HP:0001336 | HP:0012323 | Sleep myoclonus | 1 | PIGA CL E G H | 5277 | 3451 | Meier Blumberg Imahorn syndrome | | | ORPHA | 1 | | 483 | 8957 | 311770 |
HP:0001336 | HP:0025357 | Erratic myoclonus | 1 | PIGA CL E G H | 5277 | 3451 | Meier Blumberg Imahorn syndrome | | | ORPHA | 1 | | 483 | 8957 | 311770 |
HP:0001336 | HP:0007000 | Morning myoclonic jerks | 1 | PIGA CL E G H | 5277 | 3451 | Meier Blumberg Imahorn syndrome | | | ORPHA | 1 | | 483 | 8957 | 311770 |
HP:0001336 | HP:0031986 | Polyminimyoclonus | 1 | PIGA CL E G H | 5277 | 3451 | Meier Blumberg Imahorn syndrome | | | ORPHA | 1 | | 483 | 8957 | 311770 |
HP:0001336 | HP:0010530 | Palatal myoclonus | 1 | PIGA CL E G H | 5277 | 3451 | Meier Blumberg Imahorn syndrome | | | ORPHA | 1 | | 483 | 8957 | 311770 |
HP:0001336 | HP:0040148 | Cortical myoclonus | 1 | PIGA CL E G H | 5277 | 3451 | Meier Blumberg Imahorn syndrome | | | ORPHA | 1 | | 483 | 8957 | 311770 |
HP:0001336 | HP:0045084 | Limb myoclonus | 1 | PIGA CL E G H | 5277 | 3451 | Meier Blumberg Imahorn syndrome | | | ORPHA | 1 | | 483 | 8957 | 311770 |
HP:0001336 | HP:0007000 | Morning myoclonic jerks | 1 | PLCB1 CL E G H | 23236 | 3451 | Meier Blumberg Imahorn syndrome | | | ORPHA | 1 | | 1107 | 15917 | 607120 |
HP:0001336 | HP:0031986 | Polyminimyoclonus | 1 | PLCB1 CL E G H | 23236 | 3451 | Meier Blumberg Imahorn syndrome | | | ORPHA | 1 | | 1107 | 15917 | 607120 |
HP:0001336 | HP:0040148 | Cortical myoclonus | 1 | PLCB1 CL E G H | 23236 | 3451 | Meier Blumberg Imahorn syndrome | | | ORPHA | 1 | | 1107 | 15917 | 607120 |
HP:0001336 | HP:0045084 | Limb myoclonus | 1 | PLCB1 CL E G H | 23236 | 3451 | Meier Blumberg Imahorn syndrome | | | ORPHA | 1 | | 1107 | 15917 | 607120 |
HP:0001336 | HP:0010530 | Palatal myoclonus | 1 | PLCB1 CL E G H | 23236 | 3451 | Meier Blumberg Imahorn syndrome | | | ORPHA | 1 | | 1107 | 15917 | 607120 |
HP:0001336 | HP:0010531 | Spinal myoclonus | 1 | PLCB1 CL E G H | 23236 | 3451 | Meier Blumberg Imahorn syndrome | | | ORPHA | 1 | | 1107 | 15917 | 607120 |
HP:0001336 | HP:0012462 | Chin myoclonus | 1 | PLCB1 CL E G H | 23236 | 3451 | Meier Blumberg Imahorn syndrome | | | ORPHA | 1 | | 1107 | 15917 | 607120 |
HP:0001336 | HP:0025097 | Eyelid myoclonus | 1 | PLCB1 CL E G H | 23236 | 3451 | Meier Blumberg Imahorn syndrome | | | ORPHA | 1 | | 1107 | 15917 | 607120 |
HP:0001336 | HP:0012323 | Sleep myoclonus | 1 | PLCB1 CL E G H | 23236 | 3451 | Meier Blumberg Imahorn syndrome | | | ORPHA | 1 | | 1107 | 15917 | 607120 |
HP:0001336 | HP:0025357 | Erratic myoclonus | 1 | PLCB1 CL E G H | 23236 | 3451 | Meier Blumberg Imahorn syndrome | | | ORPHA | 1 | | 1107 | 15917 | 607120 |
HP:0001336 | HP:0003739 | Myoclonic spasms | 1 | PLCB1 CL E G H | 23236 | 3451 | Meier Blumberg Imahorn syndrome | | | ORPHA | 1 | | 1107 | 15917 | 607120 |
HP:0001336 | HP:0025357 | Erratic myoclonus | 1 | PLPBP CL E G H | 11212 | 617290 | Epilepsy, early-onset, vitamin b6-dependent | 617290 | C4310632 | OMIM | 1 | | 242 | 9457 | 604436 |
HP:0001336 | HP:0003739 | Myoclonic spasms | 1 | PLPBP CL E G H | 11212 | 617290 | Epilepsy, early-onset, vitamin b6-dependent | 617290 | C4310632 | OMIM | 1 | | 242 | 9457 | 604436 |
HP:0001336 | HP:0012323 | Sleep myoclonus | 1 | PLPBP CL E G H | 11212 | 617290 | Epilepsy, early-onset, vitamin b6-dependent | 617290 | C4310632 | OMIM | 1 | | 242 | 9457 | 604436 |
HP:0001336 | HP:0007000 | Morning myoclonic jerks | 1 | PLPBP CL E G H | 11212 | 617290 | Epilepsy, early-onset, vitamin b6-dependent | 617290 | C4310632 | OMIM | 1 | | 242 | 9457 | 604436 |
HP:0001336 | HP:0031986 | Polyminimyoclonus | 1 | PLPBP CL E G H | 11212 | 617290 | Epilepsy, early-onset, vitamin b6-dependent | 617290 | C4310632 | OMIM | 1 | | 242 | 9457 | 604436 |
HP:0001336 | HP:0040148 | Cortical myoclonus | 1 | PLPBP CL E G H | 11212 | 617290 | Epilepsy, early-onset, vitamin b6-dependent | 617290 | C4310632 | OMIM | 1 | | 242 | 9457 | 604436 |
HP:0001336 | HP:0045084 | Limb myoclonus | 1 | PLPBP CL E G H | 11212 | 617290 | Epilepsy, early-onset, vitamin b6-dependent | 617290 | C4310632 | OMIM | 1 | | 242 | 9457 | 604436 |
HP:0001336 | HP:0010530 | Palatal myoclonus | 1 | PLPBP CL E G H | 11212 | 617290 | Epilepsy, early-onset, vitamin b6-dependent | 617290 | C4310632 | OMIM | 1 | | 242 | 9457 | 604436 |
HP:0001336 | HP:0012462 | Chin myoclonus | 1 | PLPBP CL E G H | 11212 | 617290 | Epilepsy, early-onset, vitamin b6-dependent | 617290 | C4310632 | OMIM | 1 | | 242 | 9457 | 604436 |
HP:0001336 | HP:0025097 | Eyelid myoclonus | 1 | PLPBP CL E G H | 11212 | 617290 | Epilepsy, early-onset, vitamin b6-dependent | 617290 | C4310632 | OMIM | 1 | | 242 | 9457 | 604436 |
HP:0001336 | HP:0010531 | Spinal myoclonus | 1 | PLPBP CL E G H | 11212 | 617290 | Epilepsy, early-onset, vitamin b6-dependent | 617290 | C4310632 | OMIM | 1 | | 242 | 9457 | 604436 |
HP:0001336 | HP:0010531 | Spinal myoclonus | 1 | PNPO CL E G H | 55163 | 79096 | | | | ORPHA | 1 | | 317 | 30260 | 603287 |
HP:0001336 | HP:0012462 | Chin myoclonus | 1 | PNPO CL E G H | 55163 | 79096 | | | | ORPHA | 1 | | 317 | 30260 | 603287 |
HP:0001336 | HP:0025097 | Eyelid myoclonus | 1 | PNPO CL E G H | 55163 | 79096 | | | | ORPHA | 1 | | 317 | 30260 | 603287 |
HP:0001336 | HP:0003739 | Myoclonic spasms | 1 | PNPO CL E G H | 55163 | 79096 | | | | ORPHA | 1 | | 317 | 30260 | 603287 |
HP:0001336 | HP:0012323 | Sleep myoclonus | 1 | PNPO CL E G H | 55163 | 79096 | | | | ORPHA | 1 | | 317 | 30260 | 603287 |
HP:0001336 | HP:0025357 | Erratic myoclonus | 1 | PNPO CL E G H | 55163 | 79096 | | | | ORPHA | 1 | | 317 | 30260 | 603287 |
HP:0001336 | HP:0007000 | Morning myoclonic jerks | 1 | PNPO CL E G H | 55163 | 79096 | | | | ORPHA | 1 | | 317 | 30260 | 603287 |
HP:0001336 | HP:0031986 | Polyminimyoclonus | 1 | PNPO CL E G H | 55163 | 79096 | | | | ORPHA | 1 | | 317 | 30260 | 603287 |
HP:0001336 | HP:0010530 | Palatal myoclonus | 1 | PNPO CL E G H | 55163 | 79096 | | | | ORPHA | 1 | | 317 | 30260 | 603287 |
HP:0001336 | HP:0040148 | Cortical myoclonus | 1 | PNPO CL E G H | 55163 | 79096 | | | | ORPHA | 1 | | 317 | 30260 | 603287 |
HP:0001336 | HP:0045084 | Limb myoclonus | 1 | PNPO CL E G H | 55163 | 79096 | | | | ORPHA | 1 | | 317 | 30260 | 603287 |
HP:0001336 | HP:0010531 | Spinal myoclonus | 1 | PNPO CL E G H | 55163 | 610090 | Pyridoxal 5'-phosphate-dependent epilepsy | 610090 | C1864723 | OMIM | 1 | | 317 | 30260 | 603287 |
HP:0001336 | HP:0012462 | Chin myoclonus | 1 | PNPO CL E G H | 55163 | 610090 | Pyridoxal 5'-phosphate-dependent epilepsy | 610090 | C1864723 | OMIM | 1 | | 317 | 30260 | 603287 |
HP:0001336 | HP:0025097 | Eyelid myoclonus | 1 | PNPO CL E G H | 55163 | 610090 | Pyridoxal 5'-phosphate-dependent epilepsy | 610090 | C1864723 | OMIM | 1 | | 317 | 30260 | 603287 |
HP:0001336 | HP:0012323 | Sleep myoclonus | 1 | PNPO CL E G H | 55163 | 610090 | Pyridoxal 5'-phosphate-dependent epilepsy | 610090 | C1864723 | OMIM | 1 | | 317 | 30260 | 603287 |
HP:0001336 | HP:0025357 | Erratic myoclonus | 1 | PNPO CL E G H | 55163 | 610090 | Pyridoxal 5'-phosphate-dependent epilepsy | 610090 | C1864723 | OMIM | 1 | | 317 | 30260 | 603287 |
HP:0001336 | HP:0003739 | Myoclonic spasms | 1 | PNPO CL E G H | 55163 | 610090 | Pyridoxal 5'-phosphate-dependent epilepsy | 610090 | C1864723 | OMIM | 1 | | 317 | 30260 | 603287 |
HP:0001336 | HP:0031986 | Polyminimyoclonus | 1 | PNPO CL E G H | 55163 | 610090 | Pyridoxal 5'-phosphate-dependent epilepsy | 610090 | C1864723 | OMIM | 1 | | 317 | 30260 | 603287 |
HP:0001336 | HP:0007000 | Morning myoclonic jerks | 1 | PNPO CL E G H | 55163 | 610090 | Pyridoxal 5'-phosphate-dependent epilepsy | 610090 | C1864723 | OMIM | 1 | | 317 | 30260 | 603287 |
HP:0001336 | HP:0010530 | Palatal myoclonus | 1 | PNPO CL E G H | 55163 | 610090 | Pyridoxal 5'-phosphate-dependent epilepsy | 610090 | C1864723 | OMIM | 1 | | 317 | 30260 | 603287 |
HP:0001336 | HP:0040148 | Cortical myoclonus | 1 | PNPO CL E G H | 55163 | 610090 | Pyridoxal 5'-phosphate-dependent epilepsy | 610090 | C1864723 | OMIM | 1 | | 317 | 30260 | 603287 |
HP:0001336 | HP:0045084 | Limb myoclonus | 1 | PNPO CL E G H | 55163 | 610090 | Pyridoxal 5'-phosphate-dependent epilepsy | 610090 | C1864723 | OMIM | 1 | | 317 | 30260 | 603287 |
HP:0001336 | HP:0007000 | Morning myoclonic jerks | 1 | POLG CL E G H | 5428 | 70595 | | | | ORPHA | 1 | | 2324 | 9179 | 174763 |
HP:0001336 | HP:0031986 | Polyminimyoclonus | 1 | POLG CL E G H | 5428 | 70595 | | | | ORPHA | 1 | | 2324 | 9179 | 174763 |
HP:0001336 | HP:0045084 | Limb myoclonus | 1 | POLG CL E G H | 5428 | 726 | | | | ORPHA | 1 | | 2324 | 9179 | 174763 |
HP:0001336 | HP:0010530 | Palatal myoclonus | 1 | POLG CL E G H | 5428 | 726 | | | | ORPHA | 1 | | 2324 | 9179 | 174763 |
HP:0001336 | HP:0040148 | Cortical myoclonus | 1 | POLG CL E G H | 5428 | 726 | | | | ORPHA | 1 | | 2324 | 9179 | 174763 |
HP:0001336 | HP:0040148 | Cortical myoclonus | 1 | POLG CL E G H | 5428 | 70595 | | | | ORPHA | 1 | | 2324 | 9179 | 174763 |
HP:0001336 | HP:0045084 | Limb myoclonus | 1 | POLG CL E G H | 5428 | 70595 | | | | ORPHA | 1 | | 2324 | 9179 | 174763 |
HP:0001336 | HP:0010530 | Palatal myoclonus | 1 | POLG CL E G H | 5428 | 70595 | | | | ORPHA | 1 | | 2324 | 9179 | 174763 |
HP:0001336 | HP:0025097 | Eyelid myoclonus | 1 | POLG CL E G H | 5428 | 726 | | | | ORPHA | 1 | | 2324 | 9179 | 174763 |
HP:0001336 | HP:0010531 | Spinal myoclonus | 1 | POLG CL E G H | 5428 | 726 | | | | ORPHA | 1 | | 2324 | 9179 | 174763 |
HP:0001336 | HP:0012462 | Chin myoclonus | 1 | POLG CL E G H | 5428 | 726 | | | | ORPHA | 1 | | 2324 | 9179 | 174763 |
HP:0001336 | HP:0010531 | Spinal myoclonus | 1 | POLG CL E G H | 5428 | 70595 | | | | ORPHA | 1 | | 2324 | 9179 | 174763 |
HP:0001336 | HP:0012462 | Chin myoclonus | 1 | POLG CL E G H | 5428 | 70595 | | | | ORPHA | 1 | | 2324 | 9179 | 174763 |
HP:0001336 | HP:0025097 | Eyelid myoclonus | 1 | POLG CL E G H | 5428 | 70595 | | | | ORPHA | 1 | | 2324 | 9179 | 174763 |
HP:0001336 | HP:0025357 | Erratic myoclonus | 1 | POLG CL E G H | 5428 | 726 | | | | ORPHA | 1 | | 2324 | 9179 | 174763 |
HP:0001336 | HP:0003739 | Myoclonic spasms | 1 | POLG CL E G H | 5428 | 726 | | | | ORPHA | 1 | | 2324 | 9179 | 174763 |
HP:0001336 | HP:0012323 | Sleep myoclonus | 1 | POLG CL E G H | 5428 | 726 | | | | ORPHA | 1 | | 2324 | 9179 | 174763 |
HP:0001336 | HP:0012323 | Sleep myoclonus | 1 | POLG CL E G H | 5428 | 70595 | | | | ORPHA | 1 | | 2324 | 9179 | 174763 |
HP:0001336 | HP:0025357 | Erratic myoclonus | 1 | POLG CL E G H | 5428 | 70595 | | | | ORPHA | 1 | | 2324 | 9179 | 174763 |
HP:0001336 | HP:0003739 | Myoclonic spasms | 1 | POLG CL E G H | 5428 | 70595 | | | | ORPHA | 1 | | 2324 | 9179 | 174763 |
HP:0001336 | HP:0007000 | Morning myoclonic jerks | 1 | POLG CL E G H | 5428 | 726 | | | | ORPHA | 1 | | 2324 | 9179 | 174763 |
HP:0001336 | HP:0031986 | Polyminimyoclonus | 1 | POLG CL E G H | 5428 | 726 | | | | ORPHA | 1 | | 2324 | 9179 | 174763 |
HP:0001336 | HP:0007000 | Morning myoclonic jerks | 1 | POLG CL E G H | 5428 | 203700 | Progressive sclerosing poliodystrophy | 203700 | C0205710 | OMIM | 1 | | 2324 | 9179 | 174763 |
HP:0001336 | HP:0031986 | Polyminimyoclonus | 1 | POLG CL E G H | 5428 | 203700 | Progressive sclerosing poliodystrophy | 203700 | C0205710 | OMIM | 1 | | 2324 | 9179 | 174763 |
HP:0001336 | HP:0040148 | Cortical myoclonus | 1 | POLG CL E G H | 5428 | 203700 | Progressive sclerosing poliodystrophy | 203700 | C0205710 | OMIM | 1 | | 2324 | 9179 | 174763 |
HP:0001336 | HP:0045084 | Limb myoclonus | 1 | POLG CL E G H | 5428 | 203700 | Progressive sclerosing poliodystrophy | 203700 | C0205710 | OMIM | 1 | | 2324 | 9179 | 174763 |
HP:0001336 | HP:0010530 | Palatal myoclonus | 1 | POLG CL E G H | 5428 | 203700 | Progressive sclerosing poliodystrophy | 203700 | C0205710 | OMIM | 1 | | 2324 | 9179 | 174763 |
HP:0001336 | HP:0025097 | Eyelid myoclonus | 1 | POLG CL E G H | 5428 | 203700 | Progressive sclerosing poliodystrophy | 203700 | C0205710 | OMIM | 1 | | 2324 | 9179 | 174763 |
HP:0001336 | HP:0010531 | Spinal myoclonus | 1 | POLG CL E G H | 5428 | 203700 | Progressive sclerosing poliodystrophy | 203700 | C0205710 | OMIM | 1 | | 2324 | 9179 | 174763 |
HP:0001336 | HP:0012462 | Chin myoclonus | 1 | POLG CL E G H | 5428 | 203700 | Progressive sclerosing poliodystrophy | 203700 | C0205710 | OMIM | 1 | | 2324 | 9179 | 174763 |
HP:0001336 | HP:0025357 | Erratic myoclonus | 1 | POLG CL E G H | 5428 | 203700 | Progressive sclerosing poliodystrophy | 203700 | C0205710 | OMIM | 1 | | 2324 | 9179 | 174763 |
HP:0001336 | HP:0003739 | Myoclonic spasms | 1 | POLG CL E G H | 5428 | 203700 | Progressive sclerosing poliodystrophy | 203700 | C0205710 | OMIM | 1 | | 2324 | 9179 | 174763 |
HP:0001336 | HP:0012323 | Sleep myoclonus | 1 | POLG CL E G H | 5428 | 203700 | Progressive sclerosing poliodystrophy | 203700 | C0205710 | OMIM | 1 | | 2324 | 9179 | 174763 |
HP:0001336 | HP:0007000 | Morning myoclonic jerks | 1 | POLG CL E G H | 5428 | 607459 | Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis | 607459 | C1843851 | OMIM | 1 | | 2324 | 9179 | 174763 |
HP:0001336 | HP:0031986 | Polyminimyoclonus | 1 | POLG CL E G H | 5428 | 607459 | Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis | 607459 | C1843851 | OMIM | 1 | | 2324 | 9179 | 174763 |
HP:0001336 | HP:0040148 | Cortical myoclonus | 1 | POLG CL E G H | 5428 | 607459 | Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis | 607459 | C1843851 | OMIM | 1 | | 2324 | 9179 | 174763 |
HP:0001336 | HP:0045084 | Limb myoclonus | 1 | POLG CL E G H | 5428 | 607459 | Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis | 607459 | C1843851 | OMIM | 1 | | 2324 | 9179 | 174763 |
HP:0001336 | HP:0010530 | Palatal myoclonus | 1 | POLG CL E G H | 5428 | 607459 | Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis | 607459 | C1843851 | OMIM | 1 | | 2324 | 9179 | 174763 |
HP:0001336 | HP:0012462 | Chin myoclonus | 1 | POLG CL E G H | 5428 | 607459 | Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis | 607459 | C1843851 | OMIM | 1 | | 2324 | 9179 | 174763 |
HP:0001336 | HP:0025097 | Eyelid myoclonus | 1 | POLG CL E G H | 5428 | 607459 | Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis | 607459 | C1843851 | OMIM | 1 | | 2324 | 9179 | 174763 |
HP:0001336 | HP:0010531 | Spinal myoclonus | 1 | POLG CL E G H | 5428 | 607459 | Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis | 607459 | C1843851 | OMIM | 1 | | 2324 | 9179 | 174763 |
HP:0001336 | HP:0025357 | Erratic myoclonus | 1 | POLG CL E G H | 5428 | 607459 | Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis | 607459 | C1843851 | OMIM | 1 | | 2324 | 9179 | 174763 |
HP:0001336 | HP:0003739 | Myoclonic spasms | 1 | POLG CL E G H | 5428 | 607459 | Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis | 607459 | C1843851 | OMIM | 1 | | 2324 | 9179 | 174763 |
HP:0001336 | HP:0012323 | Sleep myoclonus | 1 | POLG CL E G H | 5428 | 607459 | Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis | 607459 | C1843851 | OMIM | 1 | | 2324 | 9179 | 174763 |
HP:0001336 | HP:0031986 | Polyminimyoclonus | 1 | POMGNT1 CL E G H | 55624 | 253280 | Muscle eye brain disease | 253280 | C0457133 | OMIM | 1 | | 1174 | 19139 | 606822 |
HP:0001336 | HP:0007000 | Morning myoclonic jerks | 1 | POMGNT1 CL E G H | 55624 | 253280 | Muscle eye brain disease | 253280 | C0457133 | OMIM | 1 | | 1174 | 19139 | 606822 |
HP:0001336 | HP:0040148 | Cortical myoclonus | 1 | POMGNT1 CL E G H | 55624 | 253280 | Muscle eye brain disease | 253280 | C0457133 | OMIM | 1 | | 1174 | 19139 | 606822 |
HP:0001336 | HP:0045084 | Limb myoclonus | 1 | POMGNT1 CL E G H | 55624 | 253280 | Muscle eye brain disease | 253280 | C0457133 | OMIM | 1 | | 1174 | 19139 | 606822 |
HP:0001336 | HP:0010530 | Palatal myoclonus | 1 | POMGNT1 CL E G H | 55624 | 253280 | Muscle eye brain disease | 253280 | C0457133 | OMIM | 1 | | 1174 | 19139 | 606822 |
HP:0001336 | HP:0010531 | Spinal myoclonus | 1 | POMGNT1 CL E G H | 55624 | 253280 | Muscle eye brain disease | 253280 | C0457133 | OMIM | 1 | | 1174 | 19139 | 606822 |
HP:0001336 | HP:0012462 | Chin myoclonus | 1 | POMGNT1 CL E G H | 55624 | 253280 | Muscle eye brain disease | 253280 | C0457133 | OMIM | 1 | | 1174 | 19139 | 606822 |
HP:0001336 | HP:0025097 | Eyelid myoclonus | 1 | POMGNT1 CL E G H | 55624 | 253280 | Muscle eye brain disease | 253280 | C0457133 | OMIM | 1 | | 1174 | 19139 | 606822 |
HP:0001336 | HP:0012323 | Sleep myoclonus | 1 | POMGNT1 CL E G H | 55624 | 253280 | Muscle eye brain disease | 253280 | C0457133 | OMIM | 1 | | 1174 | 19139 | 606822 |
HP:0001336 | HP:0025357 | Erratic myoclonus | 1 | POMGNT1 CL E G H | 55624 | 253280 | Muscle eye brain disease | 253280 | C0457133 | OMIM | 1 | | 1174 | 19139 | 606822 |
HP:0001336 | HP:0003739 | Myoclonic spasms | 1 | POMGNT1 CL E G H | 55624 | 253280 | Muscle eye brain disease | 253280 | C0457133 | OMIM | 1 | | 1174 | 19139 | 606822 |
HP:0001336 | HP:0010531 | Spinal myoclonus | 1 | PPT1 CL E G H | 5538 | 256730 | Ceroid lipofuscinosis neuronal 1 | 256730 | C1850451 | OMIM | 1 | | 617 | 9325 | 600722 |
HP:0001336 | HP:0012462 | Chin myoclonus | 1 | PPT1 CL E G H | 5538 | 256730 | Ceroid lipofuscinosis neuronal 1 | 256730 | C1850451 | OMIM | 1 | | 617 | 9325 | 600722 |
HP:0001336 | HP:0025097 | Eyelid myoclonus | 1 | PPT1 CL E G H | 5538 | 256730 | Ceroid lipofuscinosis neuronal 1 | 256730 | C1850451 | OMIM | 1 | | 617 | 9325 | 600722 |
HP:0001336 | HP:0003739 | Myoclonic spasms | 1 | PPT1 CL E G H | 5538 | 256730 | Ceroid lipofuscinosis neuronal 1 | 256730 | C1850451 | OMIM | 1 | | 617 | 9325 | 600722 |
HP:0001336 | HP:0012323 | Sleep myoclonus | 1 | PPT1 CL E G H | 5538 | 256730 | Ceroid lipofuscinosis neuronal 1 | 256730 | C1850451 | OMIM | 1 | | 617 | 9325 | 600722 |
HP:0001336 | HP:0025357 | Erratic myoclonus | 1 | PPT1 CL E G H | 5538 | 256730 | Ceroid lipofuscinosis neuronal 1 | 256730 | C1850451 | OMIM | 1 | | 617 | 9325 | 600722 |
HP:0001336 | HP:0007000 | Morning myoclonic jerks | 1 | PPT1 CL E G H | 5538 | 256730 | Ceroid lipofuscinosis neuronal 1 | 256730 | C1850451 | OMIM | 1 | | 617 | 9325 | 600722 |
HP:0001336 | HP:0031986 | Polyminimyoclonus | 1 | PPT1 CL E G H | 5538 | 256730 | Ceroid lipofuscinosis neuronal 1 | 256730 | C1850451 | OMIM | 1 | | 617 | 9325 | 600722 |
HP:0001336 | HP:0045084 | Limb myoclonus | 1 | PPT1 CL E G H | 5538 | 256730 | Ceroid lipofuscinosis neuronal 1 | 256730 | C1850451 | OMIM | 1 | | 617 | 9325 | 600722 |
HP:0001336 | HP:0010530 | Palatal myoclonus | 1 | PPT1 CL E G H | 5538 | 256730 | Ceroid lipofuscinosis neuronal 1 | 256730 | C1850451 | OMIM | 1 | | 617 | 9325 | 600722 |
HP:0001336 | HP:0040148 | Cortical myoclonus | 1 | PPT1 CL E G H | 5538 | 256730 | Ceroid lipofuscinosis neuronal 1 | 256730 | C1850451 | OMIM | 1 | | 617 | 9325 | 600722 |
HP:0001336 | HP:0031986 | Polyminimyoclonus | 1 | PRDM8 CL E G H | 56978 | 324290 | | | | ORPHA | 1 | | 439 | 13993 | 616639 |
HP:0001336 | HP:0007000 | Morning myoclonic jerks | 1 | PRDM8 CL E G H | 56978 | 324290 | | | | ORPHA | 1 | | 439 | 13993 | 616639 |
HP:0001336 | HP:0010530 | Palatal myoclonus | 1 | PRDM8 CL E G H | 56978 | 324290 | | | | ORPHA | 1 | | 439 | 13993 | 616639 |
HP:0001336 | HP:0040148 | Cortical myoclonus | 1 | PRDM8 CL E G H | 56978 | 324290 | | | | ORPHA | 1 | | 439 | 13993 | 616639 |
HP:0001336 | HP:0045084 | Limb myoclonus | 1 | PRDM8 CL E G H | 56978 | 324290 | | | | ORPHA | 1 | | 439 | 13993 | 616639 |
HP:0001336 | HP:0010531 | Spinal myoclonus | 1 | PRDM8 CL E G H | 56978 | 324290 | | | | ORPHA | 1 | | 439 | 13993 | 616639 |
HP:0001336 | HP:0012462 | Chin myoclonus | 1 | PRDM8 CL E G H | 56978 | 324290 | | | | ORPHA | 1 | | 439 | 13993 | 616639 |
HP:0001336 | HP:0025097 | Eyelid myoclonus | 1 | PRDM8 CL E G H | 56978 | 324290 | | | | ORPHA | 1 | | 439 | 13993 | 616639 |
HP:0001336 | HP:0012323 | Sleep myoclonus | 1 | PRDM8 CL E G H | 56978 | 324290 | | | | ORPHA | 1 | | 439 | 13993 | 616639 |
HP:0001336 | HP:0025357 | Erratic myoclonus | 1 | PRDM8 CL E G H | 56978 | 324290 | | | | ORPHA | 1 | | 439 | 13993 | 616639 |
HP:0001336 | HP:0003739 | Myoclonic spasms | 1 | PRDM8 CL E G H | 56978 | 324290 | | | | ORPHA | 1 | | 439 | 13993 | 616639 |
HP:0001336 | HP:0007000 | Morning myoclonic jerks | 1 | PRDM8 CL E G H | 56978 | 616640 | Epilepsy, progressive myoclonic, 10 | 616640 | C4225258 | OMIM | 1 | | 439 | 13993 | 616639 |
HP:0001336 | HP:0031986 | Polyminimyoclonus | 1 | PRDM8 CL E G H | 56978 | 616640 | Epilepsy, progressive myoclonic, 10 | 616640 | C4225258 | OMIM | 1 | | 439 | 13993 | 616639 |
HP:0001336 | HP:0040148 | Cortical myoclonus | 1 | PRDM8 CL E G H | 56978 | 616640 | Epilepsy, progressive myoclonic, 10 | 616640 | C4225258 | OMIM | 1 | | 439 | 13993 | 616639 |
HP:0001336 | HP:0045084 | Limb myoclonus | 1 | PRDM8 CL E G H | 56978 | 616640 | Epilepsy, progressive myoclonic, 10 | 616640 | C4225258 | OMIM | 1 | | 439 | 13993 | 616639 |
HP:0001336 | HP:0010530 | Palatal myoclonus | 1 | PRDM8 CL E G H | 56978 | 616640 | Epilepsy, progressive myoclonic, 10 | 616640 | C4225258 | OMIM | 1 | | 439 | 13993 | 616639 |
HP:0001336 | HP:0012462 | Chin myoclonus | 1 | PRDM8 CL E G H | 56978 | 616640 | Epilepsy, progressive myoclonic, 10 | 616640 | C4225258 | OMIM | 1 | | 439 | 13993 | 616639 |
HP:0001336 | HP:0025097 | Eyelid myoclonus | 1 | PRDM8 CL E G H | 56978 | 616640 | Epilepsy, progressive myoclonic, 10 | 616640 | C4225258 | OMIM | 1 | | 439 | 13993 | 616639 |
HP:0001336 | HP:0010531 | Spinal myoclonus | 1 | PRDM8 CL E G H | 56978 | 616640 | Epilepsy, progressive myoclonic, 10 | 616640 | C4225258 | OMIM | 1 | | 439 | 13993 | 616639 |
HP:0001336 | HP:0025357 | Erratic myoclonus | 1 | PRDM8 CL E G H | 56978 | 616640 | Epilepsy, progressive myoclonic, 10 | 616640 | C4225258 | OMIM | 1 | | 439 | 13993 | 616639 |
HP:0001336 | HP:0003739 | Myoclonic spasms | 1 | PRDM8 CL E G H | 56978 | 616640 | Epilepsy, progressive myoclonic, 10 | 616640 | C4225258 | OMIM | 1 | | 439 | 13993 | 616639 |
HP:0001336 | HP:0012323 | Sleep myoclonus | 1 | PRDM8 CL E G H | 56978 | 616640 | Epilepsy, progressive myoclonic, 10 | 616640 | C4225258 | OMIM | 1 | | 439 | 13993 | 616639 |
HP:0001336 | HP:0010531 | Spinal myoclonus | 1 | PRNP CL E G H | 5621 | 282166 | | | | ORPHA | 1 | | 191 | 9449 | 176640 |
HP:0001336 | HP:0012462 | Chin myoclonus | 1 | PRNP CL E G H | 5621 | 282166 | | | | ORPHA | 1 | | 191 | 9449 | 176640 |
HP:0001336 | HP:0025097 | Eyelid myoclonus | 1 | PRNP CL E G H | 5621 | 282166 | | | | ORPHA | 1 | | 191 | 9449 | 176640 |
HP:0001336 | HP:0003739 | Myoclonic spasms | 1 | PRNP CL E G H | 5621 | 282166 | | | | ORPHA | 1 | | 191 | 9449 | 176640 |
HP:0001336 | HP:0012323 | Sleep myoclonus | 1 | PRNP CL E G H | 5621 | 282166 | | | | ORPHA | 1 | | 191 | 9449 | 176640 |
HP:0001336 | HP:0025357 | Erratic myoclonus | 1 | PRNP CL E G H | 5621 | 282166 | | | | ORPHA | 1 | | 191 | 9449 | 176640 |
HP:0001336 | HP:0007000 | Morning myoclonic jerks | 1 | PRNP CL E G H | 5621 | 282166 | | | | ORPHA | 1 | | 191 | 9449 | 176640 |
HP:0001336 | HP:0031986 | Polyminimyoclonus | 1 | PRNP CL E G H | 5621 | 282166 | | | | ORPHA | 1 | | 191 | 9449 | 176640 |
HP:0001336 | HP:0045084 | Limb myoclonus | 1 | PRNP CL E G H | 5621 | 282166 | | | | ORPHA | 1 | | 191 | 9449 | 176640 |
HP:0001336 | HP:0010530 | Palatal myoclonus | 1 | PRNP CL E G H | 5621 | 282166 | | | | ORPHA | 1 | | 191 | 9449 | 176640 |
HP:0001336 | HP:0040148 | Cortical myoclonus | 1 | PRNP CL E G H | 5621 | 282166 | | | | ORPHA | 1 | | 191 | 9449 | 176640 |
HP:0001336 | HP:0007000 | Morning myoclonic jerks | 1 | PRNP CL E G H | 5621 | 600072 | Fatal familial insomnia | 600072 | C0206042 | OMIM | 1 | | 191 | 9449 | 176640 |
HP:0001336 | HP:0031986 | Polyminimyoclonus | 1 | PRNP CL E G H | 5621 | 600072 | Fatal familial insomnia | 600072 | C0206042 | OMIM | 1 | | 191 | 9449 | 176640 |
HP:0001336 | HP:0045084 | Limb myoclonus | 1 | PRNP CL E G H | 5621 | 600072 | Fatal familial insomnia | 600072 | C0206042 | OMIM | 1 | | 191 | 9449 | 176640 |
HP:0001336 | HP:0010530 | Palatal myoclonus | 1 | PRNP CL E G H | 5621 | 600072 | Fatal familial insomnia | 600072 | C0206042 | OMIM | 1 | | 191 | 9449 | 176640 |
HP:0001336 | HP:0040148 | Cortical myoclonus | 1 | PRNP CL E G H | 5621 | 600072 | Fatal familial insomnia | 600072 | C0206042 | OMIM | 1 | | 191 | 9449 | 176640 |
HP:0001336 | HP:0010531 | Spinal myoclonus | 1 | PRNP CL E G H | 5621 | 600072 | Fatal familial insomnia | 600072 | C0206042 | OMIM | 1 | | 191 | 9449 | 176640 |
HP:0001336 | HP:0012462 | Chin myoclonus | 1 | PRNP CL E G H | 5621 | 600072 | Fatal familial insomnia | 600072 | C0206042 | OMIM | 1 | | 191 | 9449 | 176640 |
HP:0001336 | HP:0025097 | Eyelid myoclonus | 1 | PRNP CL E G H | 5621 | 600072 | Fatal familial insomnia | 600072 | C0206042 | OMIM | 1 | | 191 | 9449 | 176640 |
HP:0001336 | HP:0003739 | Myoclonic spasms | 1 | PRNP CL E G H | 5621 | 600072 | Fatal familial insomnia | 600072 | C0206042 | OMIM | 1 | | 191 | 9449 | 176640 |
HP:0001336 | HP:0012323 | Sleep myoclonus | 1 | PRNP CL E G H | 5621 | 600072 | Fatal familial insomnia | 600072 | C0206042 | OMIM | 1 | | 191 | 9449 | 176640 |
HP:0001336 | HP:0025357 | Erratic myoclonus | 1 | PRNP CL E G H | 5621 | 600072 | Fatal familial insomnia | 600072 | C0206042 | OMIM | 1 | | 191 | 9449 | 176640 |
HP:0001336 | HP:0007000 | Morning myoclonic jerks | 1 | PRNP CL E G H | 5621 | 137440 | Gerstmann-Straussler-Scheinker syndrome | 137440 | C0017495 | OMIM | 1 | | 191 | 9449 | 176640 |
HP:0001336 | HP:0031986 | Polyminimyoclonus | 1 | PRNP CL E G H | 5621 | 137440 | Gerstmann-Straussler-Scheinker syndrome | 137440 | C0017495 | OMIM | 1 | | 191 | 9449 | 176640 |
HP:0001336 | HP:0045084 | Limb myoclonus | 1 | PRNP CL E G H | 5621 | 137440 | Gerstmann-Straussler-Scheinker syndrome | 137440 | C0017495 | OMIM | 1 | | 191 | 9449 | 176640 |
HP:0001336 | HP:0010530 | Palatal myoclonus | 1 | PRNP CL E G H | 5621 | 137440 | Gerstmann-Straussler-Scheinker syndrome | 137440 | C0017495 | OMIM | 1 | | 191 | 9449 | 176640 |
HP:0001336 | HP:0040148 | Cortical myoclonus | 1 | PRNP CL E G H | 5621 | 137440 | Gerstmann-Straussler-Scheinker syndrome | 137440 | C0017495 | OMIM | 1 | | 191 | 9449 | 176640 |
HP:0001336 | HP:0025097 | Eyelid myoclonus | 1 | PRNP CL E G H | 5621 | 137440 | Gerstmann-Straussler-Scheinker syndrome | 137440 | C0017495 | OMIM | 1 | | 191 | 9449 | 176640 |
HP:0001336 | HP:0010531 | Spinal myoclonus | 1 | PRNP CL E G H | 5621 | 137440 | Gerstmann-Straussler-Scheinker syndrome | 137440 | C0017495 | OMIM | 1 | | 191 | 9449 | 176640 |
HP:0001336 | HP:0012462 | Chin myoclonus | 1 | PRNP CL E G H | 5621 | 137440 | Gerstmann-Straussler-Scheinker syndrome | 137440 | C0017495 | OMIM | 1 | | 191 | 9449 | 176640 |
HP:0001336 | HP:0025357 | Erratic myoclonus | 1 | PRNP CL E G H | 5621 | 137440 | Gerstmann-Straussler-Scheinker syndrome | 137440 | C0017495 | OMIM | 1 | | 191 | 9449 | 176640 |
HP:0001336 | HP:0003739 | Myoclonic spasms | 1 | PRNP CL E G H | 5621 | 137440 | Gerstmann-Straussler-Scheinker syndrome | 137440 | C0017495 | OMIM | 1 | | 191 | 9449 | 176640 |
HP:0001336 | HP:0012323 | Sleep myoclonus | 1 | PRNP CL E G H | 5621 | 137440 | Gerstmann-Straussler-Scheinker syndrome | 137440 | C0017495 | OMIM | 1 | | 191 | 9449 | 176640 |
HP:0001336 | HP:0007000 | Morning myoclonic jerks | 1 | PRNP CL E G H | 5621 | 123400 | Jakob-Creutzfeldt disease | 123400 | C0022336 | OMIM | 1 | | 191 | 9449 | 176640 |
HP:0001336 | HP:0031986 | Polyminimyoclonus | 1 | PRNP CL E G H | 5621 | 123400 | Jakob-Creutzfeldt disease | 123400 | C0022336 | OMIM | 1 | | 191 | 9449 | 176640 |
HP:0001336 | HP:0040148 | Cortical myoclonus | 1 | PRNP CL E G H | 5621 | 123400 | Jakob-Creutzfeldt disease | 123400 | C0022336 | OMIM | 1 | | 191 | 9449 | 176640 |
HP:0001336 | HP:0045084 | Limb myoclonus | 1 | PRNP CL E G H | 5621 | 123400 | Jakob-Creutzfeldt disease | 123400 | C0022336 | OMIM | 1 | | 191 | 9449 | 176640 |
HP:0001336 | HP:0010530 | Palatal myoclonus | 1 | PRNP CL E G H | 5621 | 123400 | Jakob-Creutzfeldt disease | 123400 | C0022336 | OMIM | 1 | | 191 | 9449 | 176640 |
HP:0001336 | HP:0010531 | Spinal myoclonus | 1 | PRNP CL E G H | 5621 | 123400 | Jakob-Creutzfeldt disease | 123400 | C0022336 | OMIM | 1 | | 191 | 9449 | 176640 |
HP:0001336 | HP:0012462 | Chin myoclonus | 1 | PRNP CL E G H | 5621 | 123400 | Jakob-Creutzfeldt disease | 123400 | C0022336 | OMIM | 1 | | 191 | 9449 | 176640 |
HP:0001336 | HP:0025097 | Eyelid myoclonus | 1 | PRNP CL E G H | 5621 | 123400 | Jakob-Creutzfeldt disease | 123400 | C0022336 | OMIM | 1 | | 191 | 9449 | 176640 |
HP:0001336 | HP:0012323 | Sleep myoclonus | 1 | PRNP CL E G H | 5621 | 123400 | Jakob-Creutzfeldt disease | 123400 | C0022336 | OMIM | 1 | | 191 | 9449 | 176640 |
HP:0001336 | HP:0025357 | Erratic myoclonus | 1 | PRNP CL E G H | 5621 | 123400 | Jakob-Creutzfeldt disease | 123400 | C0022336 | OMIM | 1 | | 191 | 9449 | 176640 |
HP:0001336 | HP:0003739 | Myoclonic spasms | 1 | PRNP CL E G H | 5621 | 123400 | Jakob-Creutzfeldt disease | 123400 | C0022336 | OMIM | 1 | | 191 | 9449 | 176640 |
HP:0001336 | HP:0012323 | Sleep myoclonus | 1 | PRRT2 CL E G H | 112476 | 306 | | | | ORPHA | 1 | | 799 | 30500 | 614386 |
HP:0001336 | HP:0025357 | Erratic myoclonus | 1 | PRRT2 CL E G H | 112476 | 306 | | | | ORPHA | 1 | | 799 | 30500 | 614386 |
HP:0001336 | HP:0003739 | Myoclonic spasms | 1 | PRRT2 CL E G H | 112476 | 306 | | | | ORPHA | 1 | | 799 | 30500 | 614386 |
HP:0001336 | HP:0031986 | Polyminimyoclonus | 1 | PRRT2 CL E G H | 112476 | 306 | | | | ORPHA | 1 | | 799 | 30500 | 614386 |
HP:0001336 | HP:0007000 | Morning myoclonic jerks | 1 | PRRT2 CL E G H | 112476 | 306 | | | | ORPHA | 1 | | 799 | 30500 | 614386 |
HP:0001336 | HP:0010530 | Palatal myoclonus | 1 | PRRT2 CL E G H | 112476 | 306 | | | | ORPHA | 1 | | 799 | 30500 | 614386 |
HP:0001336 | HP:0040148 | Cortical myoclonus | 1 | PRRT2 CL E G H | 112476 | 306 | | | | ORPHA | 1 | | 799 | 30500 | 614386 |
HP:0001336 | HP:0045084 | Limb myoclonus | 1 | PRRT2 CL E G H | 112476 | 306 | | | | ORPHA | 1 | | 799 | 30500 | 614386 |
HP:0001336 | HP:0010531 | Spinal myoclonus | 1 | PRRT2 CL E G H | 112476 | 306 | | | | ORPHA | 1 | | 799 | 30500 | 614386 |
HP:0001336 | HP:0012462 | Chin myoclonus | 1 | PRRT2 CL E G H | 112476 | 306 | | | | ORPHA | 1 | | 799 | 30500 | 614386 |
HP:0001336 | HP:0025097 | Eyelid myoclonus | 1 | PRRT2 CL E G H | 112476 | 306 | | | | ORPHA | 1 | | 799 | 30500 | 614386 |
HP:0001336 | HP:0010531 | Spinal myoclonus | 1 | PSAP CL E G H | 5660 | 139406 | | | | ORPHA | 1 | | 772 | 9498 | 176801 |
HP:0001336 | HP:0012462 | Chin myoclonus | 1 | PSAP CL E G H | 5660 | 139406 | | | | ORPHA | 1 | | 772 | 9498 | 176801 |
HP:0001336 | HP:0025097 | Eyelid myoclonus | 1 | PSAP CL E G H | 5660 | 139406 | | | | ORPHA | 1 | | 772 | 9498 | 176801 |
HP:0001336 | HP:0003739 | Myoclonic spasms | 1 | PSAP CL E G H | 5660 | 139406 | | | | ORPHA | 1 | | 772 | 9498 | 176801 |
HP:0001336 | HP:0012323 | Sleep myoclonus | 1 | PSAP CL E G H | 5660 | 139406 | | | | ORPHA | 1 | | 772 | 9498 | 176801 |
HP:0001336 | HP:0025357 | Erratic myoclonus | 1 | PSAP CL E G H | 5660 | 139406 | | | | ORPHA | 1 | | 772 | 9498 | 176801 |
HP:0001336 | HP:0007000 | Morning myoclonic jerks | 1 | PSAP CL E G H | 5660 | 139406 | | | | ORPHA | 1 | | 772 | 9498 | 176801 |
HP:0001336 | HP:0031986 | Polyminimyoclonus | 1 | PSAP CL E G H | 5660 | 139406 | | | | ORPHA | 1 | | 772 | 9498 | 176801 |
HP:0001336 | HP:0045084 | Limb myoclonus | 1 | PSAP CL E G H | 5660 | 139406 | | | | ORPHA | 1 | | 772 | 9498 | 176801 |
HP:0001336 | HP:0010530 | Palatal myoclonus | 1 | PSAP CL E G H | 5660 | 139406 | | | | ORPHA | 1 | | 772 | 9498 | 176801 |
HP:0001336 | HP:0040148 | Cortical myoclonus | 1 | PSAP CL E G H | 5660 | 139406 | | | | ORPHA | 1 | | 772 | 9498 | 176801 |
HP:0001336 | HP:0010531 | Spinal myoclonus | 1 | PSAP CL E G H | 5660 | 611721 | Combined saposin deficiency | 611721 | C2673635 | OMIM | 1 | | 772 | 9498 | 176801 |
HP:0001336 | HP:0012462 | Chin myoclonus | 1 | PSAP CL E G H | 5660 | 611721 | Combined saposin deficiency | 611721 | C2673635 | OMIM | 1 | | 772 | 9498 | 176801 |
HP:0001336 | HP:0025097 | Eyelid myoclonus | 1 | PSAP CL E G H | 5660 | 611721 | Combined saposin deficiency | 611721 | C2673635 | OMIM | 1 | | 772 | 9498 | 176801 |
HP:0001336 | HP:0003739 | Myoclonic spasms | 1 | PSAP CL E G H | 5660 | 611721 | Combined saposin deficiency | 611721 | C2673635 | OMIM | 1 | | 772 | 9498 | 176801 |
HP:0001336 | HP:0012323 | Sleep myoclonus | 1 | PSAP CL E G H | 5660 | 611721 | Combined saposin deficiency | 611721 | C2673635 | OMIM | 1 | | 772 | 9498 | 176801 |
HP:0001336 | HP:0025357 | Erratic myoclonus | 1 | PSAP CL E G H | 5660 | 611721 | Combined saposin deficiency | 611721 | C2673635 | OMIM | 1 | | 772 | 9498 | 176801 |
HP:0001336 | HP:0007000 | Morning myoclonic jerks | 1 | PSAP CL E G H | 5660 | 611721 | Combined saposin deficiency | 611721 | C2673635 | OMIM | 1 | | 772 | 9498 | 176801 |
HP:0001336 | HP:0031986 | Polyminimyoclonus | 1 | PSAP CL E G H | 5660 | 611721 | Combined saposin deficiency | 611721 | C2673635 | OMIM | 1 | | 772 | 9498 | 176801 |
HP:0001336 | HP:0045084 | Limb myoclonus | 1 | PSAP CL E G H | 5660 | 611721 | Combined saposin deficiency | 611721 | C2673635 | OMIM | 1 | | 772 | 9498 | 176801 |
HP:0001336 | HP:0010530 | Palatal myoclonus | 1 | PSAP CL E G H | 5660 | 611721 | Combined saposin deficiency | 611721 | C2673635 | OMIM | 1 | | 772 | 9498 | 176801 |
HP:0001336 | HP:0040148 | Cortical myoclonus | 1 | PSAP CL E G H | 5660 | 611721 | Combined saposin deficiency | 611721 | C2673635 | OMIM | 1 | | 772 | 9498 | 176801 |
HP:0001336 | HP:0007000 | Morning myoclonic jerks | 1 | PSAP CL E G H | 5660 | 610539 | Gaucher disease, atypical, due to saposin C deficiency | 610539 | C1864651 | OMIM | 1 | | 772 | 9498 | 176801 |
HP:0001336 | HP:0010531 | Spinal myoclonus | 1 | PSAP CL E G H | 5660 | 610539 | Gaucher disease, atypical, due to saposin C deficiency | 610539 | C1864651 | OMIM | 1 | | 772 | 9498 | 176801 |
HP:0001336 | HP:0040148 | Cortical myoclonus | 1 | PSAP CL E G H | 5660 | 610539 | Gaucher disease, atypical, due to saposin C deficiency | 610539 | C1864651 | OMIM | 1 | | 772 | 9498 | 176801 |
HP:0001336 | HP:0045084 | Limb myoclonus | 1 | PSAP CL E G H | 5660 | 610539 | Gaucher disease, atypical, due to saposin C deficiency | 610539 | C1864651 | OMIM | 1 | | 772 | 9498 | 176801 |
HP:0001336 | HP:0012323 | Sleep myoclonus | 1 | PSAP CL E G H | 5660 | 610539 | Gaucher disease, atypical, due to saposin C deficiency | 610539 | C1864651 | OMIM | 1 | | 772 | 9498 | 176801 |
HP:0001336 | HP:0012462 | Chin myoclonus | 1 | PSAP CL E G H | 5660 | 610539 | Gaucher disease, atypical, due to saposin C deficiency | 610539 | C1864651 | OMIM | 1 | | 772 | 9498 | 176801 |
HP:0001336 | HP:0025097 | Eyelid myoclonus | 1 | PSAP CL E G H | 5660 | 610539 | Gaucher disease, atypical, due to saposin C deficiency | 610539 | C1864651 | OMIM | 1 | | 772 | 9498 | 176801 |
HP:0001336 | HP:0031986 | Polyminimyoclonus | 1 | PSAP CL E G H | 5660 | 610539 | Gaucher disease, atypical, due to saposin C deficiency | 610539 | C1864651 | OMIM | 1 | | 772 | 9498 | 176801 |
HP:0001336 | HP:0025357 | Erratic myoclonus | 1 | PSAP CL E G H | 5660 | 610539 | Gaucher disease, atypical, due to saposin C deficiency | 610539 | C1864651 | OMIM | 1 | | 772 | 9498 | 176801 |
HP:0001336 | HP:0003739 | Myoclonic spasms | 1 | PSAP CL E G H | 5660 | 610539 | Gaucher disease, atypical, due to saposin C deficiency | 610539 | C1864651 | OMIM | 1 | | 772 | 9498 | 176801 |
HP:0001336 | HP:0010530 | Palatal myoclonus | 1 | PSAP CL E G H | 5660 | 610539 | Gaucher disease, atypical, due to saposin C deficiency | 610539 | C1864651 | OMIM | 1 | | 772 | 9498 | 176801 |
HP:0001336 | HP:0012323 | Sleep myoclonus | 1 | PSEN1 CL E G H | 5663 | 1020 | | | | ORPHA | 1 | | 501 | 9508 | 104311 |
HP:0001336 | HP:0025357 | Erratic myoclonus | 1 | PSEN1 CL E G H | 5663 | 1020 | | | | ORPHA | 1 | | 501 | 9508 | 104311 |
HP:0001336 | HP:0003739 | Myoclonic spasms | 1 | PSEN1 CL E G H | 5663 | 1020 | | | | ORPHA | 1 | | 501 | 9508 | 104311 |
HP:0001336 | HP:0031986 | Polyminimyoclonus | 1 | PSEN1 CL E G H | 5663 | 1020 | | | | ORPHA | 1 | | 501 | 9508 | 104311 |
HP:0001336 | HP:0007000 | Morning myoclonic jerks | 1 | PSEN1 CL E G H | 5663 | 1020 | | | | ORPHA | 1 | | 501 | 9508 | 104311 |
HP:0001336 | HP:0010530 | Palatal myoclonus | 1 | PSEN1 CL E G H | 5663 | 1020 | | | | ORPHA | 1 | | 501 | 9508 | 104311 |
HP:0001336 | HP:0040148 | Cortical myoclonus | 1 | PSEN1 CL E G H | 5663 | 1020 | | | | ORPHA | 1 | | 501 | 9508 | 104311 |
HP:0001336 | HP:0045084 | Limb myoclonus | 1 | PSEN1 CL E G H | 5663 | 1020 | | | | ORPHA | 1 | | 501 | 9508 | 104311 |
HP:0001336 | HP:0010531 | Spinal myoclonus | 1 | PSEN1 CL E G H | 5663 | 1020 | | | | ORPHA | 1 | | 501 | 9508 | 104311 |
HP:0001336 | HP:0012462 | Chin myoclonus | 1 | PSEN1 CL E G H | 5663 | 1020 | | | | ORPHA | 1 | | 501 | 9508 | 104311 |
HP:0001336 | HP:0025097 | Eyelid myoclonus | 1 | PSEN1 CL E G H | 5663 | 1020 | | | | ORPHA | 1 | | 501 | 9508 | 104311 |
HP:0001336 | HP:0007000 | Morning myoclonic jerks | 1 | PSEN1 CL E G H | 5663 | 607822 | Alzheimer disease, type 3 | 607822 | C1843013 | OMIM | 1 | | 501 | 9508 | 104311 |
HP:0001336 | HP:0031986 | Polyminimyoclonus | 1 | PSEN1 CL E G H | 5663 | 607822 | Alzheimer disease, type 3 | 607822 | C1843013 | OMIM | 1 | | 501 | 9508 | 104311 |
HP:0001336 | HP:0045084 | Limb myoclonus | 1 | PSEN1 CL E G H | 5663 | 607822 | Alzheimer disease, type 3 | 607822 | C1843013 | OMIM | 1 | | 501 | 9508 | 104311 |
HP:0001336 | HP:0010530 | Palatal myoclonus | 1 | PSEN1 CL E G H | 5663 | 607822 | Alzheimer disease, type 3 | 607822 | C1843013 | OMIM | 1 | | 501 | 9508 | 104311 |
HP:0001336 | HP:0040148 | Cortical myoclonus | 1 | PSEN1 CL E G H | 5663 | 607822 | Alzheimer disease, type 3 | 607822 | C1843013 | OMIM | 1 | | 501 | 9508 | 104311 |
HP:0001336 | HP:0025097 | Eyelid myoclonus | 1 | PSEN1 CL E G H | 5663 | 607822 | Alzheimer disease, type 3 | 607822 | C1843013 | OMIM | 1 | | 501 | 9508 | 104311 |
HP:0001336 | HP:0010531 | Spinal myoclonus | 1 | PSEN1 CL E G H | 5663 | 607822 | Alzheimer disease, type 3 | 607822 | C1843013 | OMIM | 1 | | 501 | 9508 | 104311 |
HP:0001336 | HP:0012462 | Chin myoclonus | 1 | PSEN1 CL E G H | 5663 | 607822 | Alzheimer disease, type 3 | 607822 | C1843013 | OMIM | 1 | | 501 | 9508 | 104311 |
HP:0001336 | HP:0003739 | Myoclonic spasms | 1 | PSEN1 CL E G H | 5663 | 607822 | Alzheimer disease, type 3 | 607822 | C1843013 | OMIM | 1 | | 501 | 9508 | 104311 |
HP:0001336 | HP:0012323 | Sleep myoclonus | 1 | PSEN1 CL E G H | 5663 | 607822 | Alzheimer disease, type 3 | 607822 | C1843013 | OMIM | 1 | | 501 | 9508 | 104311 |
HP:0001336 | HP:0025357 | Erratic myoclonus | 1 | PSEN1 CL E G H | 5663 | 607822 | Alzheimer disease, type 3 | 607822 | C1843013 | OMIM | 1 | | 501 | 9508 | 104311 |
HP:0001336 | HP:0040148 | Cortical myoclonus | 1 | PSEN2 CL E G H | 5664 | 1020 | | | | ORPHA | 1 | | 279 | 9509 | 600759 |
HP:0001336 | HP:0045084 | Limb myoclonus | 1 | PSEN2 CL E G H | 5664 | 1020 | | | | ORPHA | 1 | | 279 | 9509 | 600759 |
HP:0001336 | HP:0010530 | Palatal myoclonus | 1 | PSEN2 CL E G H | 5664 | 1020 | | | | ORPHA | 1 | | 279 | 9509 | 600759 |
HP:0001336 | HP:0010531 | Spinal myoclonus | 1 | PSEN2 CL E G H | 5664 | 1020 | | | | ORPHA | 1 | | 279 | 9509 | 600759 |
HP:0001336 | HP:0012462 | Chin myoclonus | 1 | PSEN2 CL E G H | 5664 | 1020 | | | | ORPHA | 1 | | 279 | 9509 | 600759 |
HP:0001336 | HP:0025097 | Eyelid myoclonus | 1 | PSEN2 CL E G H | 5664 | 1020 | | | | ORPHA | 1 | | 279 | 9509 | 600759 |
HP:0001336 | HP:0025357 | Erratic myoclonus | 1 | PSEN2 CL E G H | 5664 | 1020 | | | | ORPHA | 1 | | 279 | 9509 | 600759 |
HP:0001336 | HP:0003739 | Myoclonic spasms | 1 | PSEN2 CL E G H | 5664 | 1020 | | | | ORPHA | 1 | | 279 | 9509 | 600759 |
HP:0001336 | HP:0012323 | Sleep myoclonus | 1 | PSEN2 CL E G H | 5664 | 1020 | | | | ORPHA | 1 | | 279 | 9509 | 600759 |
HP:0001336 | HP:0007000 | Morning myoclonic jerks | 1 | PSEN2 CL E G H | 5664 | 1020 | | | | ORPHA | 1 | | 279 | 9509 | 600759 |
HP:0001336 | HP:0031986 | Polyminimyoclonus | 1 | PSEN2 CL E G H | 5664 | 1020 | | | | ORPHA | 1 | | 279 | 9509 | 600759 |
HP:0001336 | HP:0010531 | Spinal myoclonus | 1 | PURA CL E G H | 5813 | 616158 | Mental retardation, autosomal dominant 31 | 616158 | C4015357 | OMIM | 1 | | 459 | 9701 | 600473 |
HP:0001336 | HP:0012462 | Chin myoclonus | 1 | PURA CL E G H | 5813 | 616158 | Mental retardation, autosomal dominant 31 | 616158 | C4015357 | OMIM | 1 | | 459 | 9701 | 600473 |
HP:0001336 | HP:0025097 | Eyelid myoclonus | 1 | PURA CL E G H | 5813 | 616158 | Mental retardation, autosomal dominant 31 | 616158 | C4015357 | OMIM | 1 | | 459 | 9701 | 600473 |
HP:0001336 | HP:0003739 | Myoclonic spasms | 1 | PURA CL E G H | 5813 | 616158 | Mental retardation, autosomal dominant 31 | 616158 | C4015357 | OMIM | 1 | | 459 | 9701 | 600473 |
HP:0001336 | HP:0012323 | Sleep myoclonus | 1 | PURA CL E G H | 5813 | 616158 | Mental retardation, autosomal dominant 31 | 616158 | C4015357 | OMIM | 1 | | 459 | 9701 | 600473 |
HP:0001336 | HP:0025357 | Erratic myoclonus | 1 | PURA CL E G H | 5813 | 616158 | Mental retardation, autosomal dominant 31 | 616158 | C4015357 | OMIM | 1 | | 459 | 9701 | 600473 |
HP:0001336 | HP:0007000 | Morning myoclonic jerks | 1 | PURA CL E G H | 5813 | 616158 | Mental retardation, autosomal dominant 31 | 616158 | C4015357 | OMIM | 1 | | 459 | 9701 | 600473 |
HP:0001336 | HP:0031986 | Polyminimyoclonus | 1 | PURA CL E G H | 5813 | 616158 | Mental retardation, autosomal dominant 31 | 616158 | C4015357 | OMIM | 1 | | 459 | 9701 | 600473 |
HP:0001336 | HP:0045084 | Limb myoclonus | 1 | PURA CL E G H | 5813 | 616158 | Mental retardation, autosomal dominant 31 | 616158 | C4015357 | OMIM | 1 | | 459 | 9701 | 600473 |
HP:0001336 | HP:0010530 | Palatal myoclonus | 1 | PURA CL E G H | 5813 | 616158 | Mental retardation, autosomal dominant 31 | 616158 | C4015357 | OMIM | 1 | | 459 | 9701 | 600473 |
HP:0001336 | HP:0040148 | Cortical myoclonus | 1 | PURA CL E G H | 5813 | 616158 | Mental retardation, autosomal dominant 31 | 616158 | C4015357 | OMIM | 1 | | 459 | 9701 | 600473 |
HP:0001336 | HP:0007000 | Morning myoclonic jerks | 1 | QDPR CL E G H | 5860 | 261630 | Dihydropteridine reductase deficiency | 261630 | C0268465 | OMIM | 1 | | 319 | 9752 | 612676 |
HP:0001336 | HP:0031986 | Polyminimyoclonus | 1 | QDPR CL E G H | 5860 | 261630 | Dihydropteridine reductase deficiency | 261630 | C0268465 | OMIM | 1 | | 319 | 9752 | 612676 |
HP:0001336 | HP:0040148 | Cortical myoclonus | 1 | QDPR CL E G H | 5860 | 261630 | Dihydropteridine reductase deficiency | 261630 | C0268465 | OMIM | 1 | | 319 | 9752 | 612676 |
HP:0001336 | HP:0045084 | Limb myoclonus | 1 | QDPR CL E G H | 5860 | 261630 | Dihydropteridine reductase deficiency | 261630 | C0268465 | OMIM | 1 | | 319 | 9752 | 612676 |
HP:0001336 | HP:0010530 | Palatal myoclonus | 1 | QDPR CL E G H | 5860 | 261630 | Dihydropteridine reductase deficiency | 261630 | C0268465 | OMIM | 1 | | 319 | 9752 | 612676 |
HP:0001336 | HP:0012462 | Chin myoclonus | 1 | QDPR CL E G H | 5860 | 261630 | Dihydropteridine reductase deficiency | 261630 | C0268465 | OMIM | 1 | | 319 | 9752 | 612676 |
HP:0001336 | HP:0025097 | Eyelid myoclonus | 1 | QDPR CL E G H | 5860 | 261630 | Dihydropteridine reductase deficiency | 261630 | C0268465 | OMIM | 1 | | 319 | 9752 | 612676 |
HP:0001336 | HP:0010531 | Spinal myoclonus | 1 | QDPR CL E G H | 5860 | 261630 | Dihydropteridine reductase deficiency | 261630 | C0268465 | OMIM | 1 | | 319 | 9752 | 612676 |
HP:0001336 | HP:0025357 | Erratic myoclonus | 1 | QDPR CL E G H | 5860 | 261630 | Dihydropteridine reductase deficiency | 261630 | C0268465 | OMIM | 1 | | 319 | 9752 | 612676 |
HP:0001336 | HP:0003739 | Myoclonic spasms | 1 | QDPR CL E G H | 5860 | 261630 | Dihydropteridine reductase deficiency | 261630 | C0268465 | OMIM | 1 | | 319 | 9752 | 612676 |
HP:0001336 | HP:0012323 | Sleep myoclonus | 1 | QDPR CL E G H | 5860 | 261630 | Dihydropteridine reductase deficiency | 261630 | C0268465 | OMIM | 1 | | 319 | 9752 | 612676 |
HP:0001336 | HP:0031986 | Polyminimyoclonus | 1 | RFT1 CL E G H | 91869 | 612015 | Congenital disorder of glycosylation type 1N | 612015 | C2677590 | OMIM | 1 | | 505 | 30220 | 611908 |
HP:0001336 | HP:0007000 | Morning myoclonic jerks | 1 | RFT1 CL E G H | 91869 | 612015 | Congenital disorder of glycosylation type 1N | 612015 | C2677590 | OMIM | 1 | | 505 | 30220 | 611908 |
HP:0001336 | HP:0040148 | Cortical myoclonus | 1 | RFT1 CL E G H | 91869 | 612015 | Congenital disorder of glycosylation type 1N | 612015 | C2677590 | OMIM | 1 | | 505 | 30220 | 611908 |
HP:0001336 | HP:0045084 | Limb myoclonus | 1 | RFT1 CL E G H | 91869 | 612015 | Congenital disorder of glycosylation type 1N | 612015 | C2677590 | OMIM | 1 | | 505 | 30220 | 611908 |
HP:0001336 | HP:0010530 | Palatal myoclonus | 1 | RFT1 CL E G H | 91869 | 612015 | Congenital disorder of glycosylation type 1N | 612015 | C2677590 | OMIM | 1 | | 505 | 30220 | 611908 |
HP:0001336 | HP:0010531 | Spinal myoclonus | 1 | RFT1 CL E G H | 91869 | 612015 | Congenital disorder of glycosylation type 1N | 612015 | C2677590 | OMIM | 1 | | 505 | 30220 | 611908 |
HP:0001336 | HP:0012462 | Chin myoclonus | 1 | RFT1 CL E G H | 91869 | 612015 | Congenital disorder of glycosylation type 1N | 612015 | C2677590 | OMIM | 1 | | 505 | 30220 | 611908 |
HP:0001336 | HP:0025097 | Eyelid myoclonus | 1 | RFT1 CL E G H | 91869 | 612015 | Congenital disorder of glycosylation type 1N | 612015 | C2677590 | OMIM | 1 | | 505 | 30220 | 611908 |
HP:0001336 | HP:0012323 | Sleep myoclonus | 1 | RFT1 CL E G H | 91869 | 612015 | Congenital disorder of glycosylation type 1N | 612015 | C2677590 | OMIM | 1 | | 505 | 30220 | 611908 |
HP:0001336 | HP:0025357 | Erratic myoclonus | 1 | RFT1 CL E G H | 91869 | 612015 | Congenital disorder of glycosylation type 1N | 612015 | C2677590 | OMIM | 1 | | 505 | 30220 | 611908 |
HP:0001336 | HP:0003739 | Myoclonic spasms | 1 | RFT1 CL E G H | 91869 | 612015 | Congenital disorder of glycosylation type 1N | 612015 | C2677590 | OMIM | 1 | | 505 | 30220 | 611908 |
HP:0001336 | HP:0012462 | Chin myoclonus | 1 | SAMD12 CL E G H | 401474 | 86814 | | | | ORPHA | 1 | | 75 | 31750 | 618073 |
HP:0001336 | HP:0025097 | Eyelid myoclonus | 1 | SAMD12 CL E G H | 401474 | 86814 | | | | ORPHA | 1 | | 75 | 31750 | 618073 |
HP:0001336 | HP:0010531 | Spinal myoclonus | 1 | SAMD12 CL E G H | 401474 | 86814 | | | | ORPHA | 1 | | 75 | 31750 | 618073 |
HP:0001336 | HP:0025357 | Erratic myoclonus | 1 | SAMD12 CL E G H | 401474 | 86814 | | | | ORPHA | 1 | | 75 | 31750 | 618073 |
HP:0001336 | HP:0003739 | Myoclonic spasms | 1 | SAMD12 CL E G H | 401474 | 86814 | | | | ORPHA | 1 | | 75 | 31750 | 618073 |
HP:0001336 | HP:0012323 | Sleep myoclonus | 1 | SAMD12 CL E G H | 401474 | 86814 | | | | ORPHA | 1 | | 75 | 31750 | 618073 |
HP:0001336 | HP:0007000 | Morning myoclonic jerks | 1 | SAMD12 CL E G H | 401474 | 86814 | | | | ORPHA | 1 | | 75 | 31750 | 618073 |
HP:0001336 | HP:0031986 | Polyminimyoclonus | 1 | SAMD12 CL E G H | 401474 | 86814 | | | | ORPHA | 1 | | 75 | 31750 | 618073 |
HP:0001336 | HP:0040148 | Cortical myoclonus | 1 | SAMD12 CL E G H | 401474 | 86814 | | | | ORPHA | 1 | | 75 | 31750 | 618073 |
HP:0001336 | HP:0045084 | Limb myoclonus | 1 | SAMD12 CL E G H | 401474 | 86814 | | | | ORPHA | 1 | | 75 | 31750 | 618073 |
HP:0001336 | HP:0010530 | Palatal myoclonus | 1 | SAMD12 CL E G H | 401474 | 86814 | | | | ORPHA | 1 | | 75 | 31750 | 618073 |
HP:0001336 | HP:0007000 | Morning myoclonic jerks | 1 | SC5D CL E G H | 6309 | 46059 | | | | ORPHA | 1 | | 242 | 10547 | 602286 |
HP:0001336 | HP:0031986 | Polyminimyoclonus | 1 | SC5D CL E G H | 6309 | 46059 | | | | ORPHA | 1 | | 242 | 10547 | 602286 |
HP:0001336 | HP:0040148 | Cortical myoclonus | 1 | SC5D CL E G H | 6309 | 46059 | | | | ORPHA | 1 | | 242 | 10547 | 602286 |
HP:0001336 | HP:0045084 | Limb myoclonus | 1 | SC5D CL E G H | 6309 | 46059 | | | | ORPHA | 1 | | 242 | 10547 | 602286 |
HP:0001336 | HP:0010530 | Palatal myoclonus | 1 | SC5D CL E G H | 6309 | 46059 | | | | ORPHA | 1 | | 242 | 10547 | 602286 |
HP:0001336 | HP:0025097 | Eyelid myoclonus | 1 | SC5D CL E G H | 6309 | 46059 | | | | ORPHA | 1 | | 242 | 10547 | 602286 |
HP:0001336 | HP:0010531 | Spinal myoclonus | 1 | SC5D CL E G H | 6309 | 46059 | | | | ORPHA | 1 | | 242 | 10547 | 602286 |
HP:0001336 | HP:0012462 | Chin myoclonus | 1 | SC5D CL E G H | 6309 | 46059 | | | | ORPHA | 1 | | 242 | 10547 | 602286 |
HP:0001336 | HP:0025357 | Erratic myoclonus | 1 | SC5D CL E G H | 6309 | 46059 | | | | ORPHA | 1 | | 242 | 10547 | 602286 |
HP:0001336 | HP:0003739 | Myoclonic spasms | 1 | SC5D CL E G H | 6309 | 46059 | | | | ORPHA | 1 | | 242 | 10547 | 602286 |
HP:0001336 | HP:0012323 | Sleep myoclonus | 1 | SC5D CL E G H | 6309 | 46059 | | | | ORPHA | 1 | | 242 | 10547 | 602286 |
HP:0001336 | HP:0031986 | Polyminimyoclonus | 1 | SCARB2 CL E G H | 950 | 254900 | Epilepsy, progressive myoclonic 4, with or without renal failure | 254900 | C0751779 | OMIM | 1 | | 474 | 1665 | 602257 |
HP:0001336 | HP:0007000 | Morning myoclonic jerks | 1 | SCARB2 CL E G H | 950 | 254900 | Epilepsy, progressive myoclonic 4, with or without renal failure | 254900 | C0751779 | OMIM | 1 | | 474 | 1665 | 602257 |
HP:0001336 | HP:0040148 | Cortical myoclonus | 1 | SCARB2 CL E G H | 950 | 254900 | Epilepsy, progressive myoclonic 4, with or without renal failure | 254900 | C0751779 | OMIM | 1 | | 474 | 1665 | 602257 |
HP:0001336 | HP:0045084 | Limb myoclonus | 1 | SCARB2 CL E G H | 950 | 254900 | Epilepsy, progressive myoclonic 4, with or without renal failure | 254900 | C0751779 | OMIM | 1 | | 474 | 1665 | 602257 |
HP:0001336 | HP:0010530 | Palatal myoclonus | 1 | SCARB2 CL E G H | 950 | 254900 | Epilepsy, progressive myoclonic 4, with or without renal failure | 254900 | C0751779 | OMIM | 1 | | 474 | 1665 | 602257 |
HP:0001336 | HP:0010531 | Spinal myoclonus | 1 | SCARB2 CL E G H | 950 | 254900 | Epilepsy, progressive myoclonic 4, with or without renal failure | 254900 | C0751779 | OMIM | 1 | | 474 | 1665 | 602257 |
HP:0001336 | HP:0012462 | Chin myoclonus | 1 | SCARB2 CL E G H | 950 | 254900 | Epilepsy, progressive myoclonic 4, with or without renal failure | 254900 | C0751779 | OMIM | 1 | | 474 | 1665 | 602257 |
HP:0001336 | HP:0025097 | Eyelid myoclonus | 1 | SCARB2 CL E G H | 950 | 254900 | Epilepsy, progressive myoclonic 4, with or without renal failure | 254900 | C0751779 | OMIM | 1 | | 474 | 1665 | 602257 |
HP:0001336 | HP:0012323 | Sleep myoclonus | 1 | SCARB2 CL E G H | 950 | 254900 | Epilepsy, progressive myoclonic 4, with or without renal failure | 254900 | C0751779 | OMIM | 1 | | 474 | 1665 | 602257 |
HP:0001336 | HP:0025357 | Erratic myoclonus | 1 | SCARB2 CL E G H | 950 | 254900 | Epilepsy, progressive myoclonic 4, with or without renal failure | 254900 | C0751779 | OMIM | 1 | | 474 | 1665 | 602257 |
HP:0001336 | HP:0003739 | Myoclonic spasms | 1 | SCARB2 CL E G H | 950 | 254900 | Epilepsy, progressive myoclonic 4, with or without renal failure | 254900 | C0751779 | OMIM | 1 | | 474 | 1665 | 602257 |
HP:0001336 | HP:0012462 | Chin myoclonus | 1 | SCN1A CL E G H | 6323 | 2382 | | | | ORPHA | 1 | | 4030 | 10585 | 182389 |
HP:0001336 | HP:0025097 | Eyelid myoclonus | 1 | SCN1A CL E G H | 6323 | 2382 | | | | ORPHA | 1 | | 4030 | 10585 | 182389 |
HP:0001336 | HP:0010531 | Spinal myoclonus | 1 | SCN1A CL E G H | 6323 | 2382 | | | | ORPHA | 1 | | 4030 | 10585 | 182389 |
HP:0001336 | HP:0025357 | Erratic myoclonus | 1 | SCN1A CL E G H | 6323 | 2382 | | | | ORPHA | 1 | | 4030 | 10585 | 182389 |
HP:0001336 | HP:0003739 | Myoclonic spasms | 1 | SCN1A CL E G H | 6323 | 2382 | | | | ORPHA | 1 | | 4030 | 10585 | 182389 |
HP:0001336 | HP:0012323 | Sleep myoclonus | 1 | SCN1A CL E G H | 6323 | 2382 | | | | ORPHA | 1 | | 4030 | 10585 | 182389 |
HP:0001336 | HP:0007000 | Morning myoclonic jerks | 1 | SCN1A CL E G H | 6323 | 2382 | | | | ORPHA | 1 | | 4030 | 10585 | 182389 |
HP:0001336 | HP:0031986 | Polyminimyoclonus | 1 | SCN1A CL E G H | 6323 | 2382 | | | | ORPHA | 1 | | 4030 | 10585 | 182389 |
HP:0001336 | HP:0040148 | Cortical myoclonus | 1 | SCN1A CL E G H | 6323 | 2382 | | | | ORPHA | 1 | | 4030 | 10585 | 182389 |
HP:0001336 | HP:0045084 | Limb myoclonus | 1 | SCN1A CL E G H | 6323 | 2382 | | | | ORPHA | 1 | | 4030 | 10585 | 182389 |
HP:0001336 | HP:0010530 | Palatal myoclonus | 1 | SCN1A CL E G H | 6323 | 2382 | | | | ORPHA | 1 | | 4030 | 10585 | 182389 |
HP:0001336 | HP:0040148 | Cortical myoclonus | 1 | SCN2A CL E G H | 6326 | 306 | | | | ORPHA | 1 | | 2280 | 10588 | 182390 |
HP:0001336 | HP:0045084 | Limb myoclonus | 1 | SCN2A CL E G H | 6326 | 306 | | | | ORPHA | 1 | | 2280 | 10588 | 182390 |
HP:0001336 | HP:0010530 | Palatal myoclonus | 1 | SCN2A CL E G H | 6326 | 306 | | | | ORPHA | 1 | | 2280 | 10588 | 182390 |
HP:0001336 | HP:0012462 | Chin myoclonus | 1 | SCN2A CL E G H | 6326 | 306 | | | | ORPHA | 1 | | 2280 | 10588 | 182390 |
HP:0001336 | HP:0025097 | Eyelid myoclonus | 1 | SCN2A CL E G H | 6326 | 306 | | | | ORPHA | 1 | | 2280 | 10588 | 182390 |
HP:0001336 | HP:0010531 | Spinal myoclonus | 1 | SCN2A CL E G H | 6326 | 306 | | | | ORPHA | 1 | | 2280 | 10588 | 182390 |
HP:0001336 | HP:0025357 | Erratic myoclonus | 1 | SCN2A CL E G H | 6326 | 306 | | | | ORPHA | 1 | | 2280 | 10588 | 182390 |
HP:0001336 | HP:0003739 | Myoclonic spasms | 1 | SCN2A CL E G H | 6326 | 306 | | | | ORPHA | 1 | | 2280 | 10588 | 182390 |
HP:0001336 | HP:0012323 | Sleep myoclonus | 1 | SCN2A CL E G H | 6326 | 306 | | | | ORPHA | 1 | | 2280 | 10588 | 182390 |
HP:0001336 | HP:0007000 | Morning myoclonic jerks | 1 | SCN2A CL E G H | 6326 | 306 | | | | ORPHA | 1 | | 2280 | 10588 | 182390 |
HP:0001336 | HP:0031986 | Polyminimyoclonus | 1 | SCN2A CL E G H | 6326 | 306 | | | | ORPHA | 1 | | 2280 | 10588 | 182390 |
HP:0001336 | HP:0012462 | Chin myoclonus | 1 | SCN2A CL E G H | 6326 | 3451 | Meier Blumberg Imahorn syndrome | | | ORPHA | 1 | | 2280 | 10588 | 182390 |
HP:0001336 | HP:0025097 | Eyelid myoclonus | 1 | SCN2A CL E G H | 6326 | 3451 | Meier Blumberg Imahorn syndrome | | | ORPHA | 1 | | 2280 | 10588 | 182390 |
HP:0001336 | HP:0010531 | Spinal myoclonus | 1 | SCN2A CL E G H | 6326 | 3451 | Meier Blumberg Imahorn syndrome | | | ORPHA | 1 | | 2280 | 10588 | 182390 |
HP:0001336 | HP:0025357 | Erratic myoclonus | 1 | SCN2A CL E G H | 6326 | 3451 | Meier Blumberg Imahorn syndrome | | | ORPHA | 1 | | 2280 | 10588 | 182390 |
HP:0001336 | HP:0003739 | Myoclonic spasms | 1 | SCN2A CL E G H | 6326 | 3451 | Meier Blumberg Imahorn syndrome | | | ORPHA | 1 | | 2280 | 10588 | 182390 |
HP:0001336 | HP:0012323 | Sleep myoclonus | 1 | SCN2A CL E G H | 6326 | 3451 | Meier Blumberg Imahorn syndrome | | | ORPHA | 1 | | 2280 | 10588 | 182390 |
HP:0001336 | HP:0007000 | Morning myoclonic jerks | 1 | SCN2A CL E G H | 6326 | 3451 | Meier Blumberg Imahorn syndrome | | | ORPHA | 1 | | 2280 | 10588 | 182390 |
HP:0001336 | HP:0031986 | Polyminimyoclonus | 1 | SCN2A CL E G H | 6326 | 3451 | Meier Blumberg Imahorn syndrome | | | ORPHA | 1 | | 2280 | 10588 | 182390 |
HP:0001336 | HP:0040148 | Cortical myoclonus | 1 | SCN2A CL E G H | 6326 | 3451 | Meier Blumberg Imahorn syndrome | | | ORPHA | 1 | | 2280 | 10588 | 182390 |
HP:0001336 | HP:0045084 | Limb myoclonus | 1 | SCN2A CL E G H | 6326 | 3451 | Meier Blumberg Imahorn syndrome | | | ORPHA | 1 | | 2280 | 10588 | 182390 |
HP:0001336 | HP:0010530 | Palatal myoclonus | 1 | SCN2A CL E G H | 6326 | 3451 | Meier Blumberg Imahorn syndrome | | | ORPHA | 1 | | 2280 | 10588 | 182390 |
HP:0001336 | HP:0025357 | Erratic myoclonus | 1 | SCN8A CL E G H | 6334 | 306 | | | | ORPHA | 1 | | 1799 | 10596 | 600702 |
HP:0001336 | HP:0003739 | Myoclonic spasms | 1 | SCN8A CL E G H | 6334 | 306 | | | | ORPHA | 1 | | 1799 | 10596 | 600702 |
HP:0001336 | HP:0012323 | Sleep myoclonus | 1 | SCN8A CL E G H | 6334 | 306 | | | | ORPHA | 1 | | 1799 | 10596 | 600702 |
HP:0001336 | HP:0007000 | Morning myoclonic jerks | 1 | SCN8A CL E G H | 6334 | 306 | | | | ORPHA | 1 | | 1799 | 10596 | 600702 |
HP:0001336 | HP:0031986 | Polyminimyoclonus | 1 | SCN8A CL E G H | 6334 | 306 | | | | ORPHA | 1 | | 1799 | 10596 | 600702 |
HP:0001336 | HP:0040148 | Cortical myoclonus | 1 | SCN8A CL E G H | 6334 | 306 | | | | ORPHA | 1 | | 1799 | 10596 | 600702 |
HP:0001336 | HP:0045084 | Limb myoclonus | 1 | SCN8A CL E G H | 6334 | 306 | | | | ORPHA | 1 | | 1799 | 10596 | 600702 |
HP:0001336 | HP:0010530 | Palatal myoclonus | 1 | SCN8A CL E G H | 6334 | 306 | | | | ORPHA | 1 | | 1799 | 10596 | 600702 |
HP:0001336 | HP:0012462 | Chin myoclonus | 1 | SCN8A CL E G H | 6334 | 306 | | | | ORPHA | 1 | | 1799 | 10596 | 600702 |
HP:0001336 | HP:0025097 | Eyelid myoclonus | 1 | SCN8A CL E G H | 6334 | 306 | | | | ORPHA | 1 | | 1799 | 10596 | 600702 |
HP:0001336 | HP:0010531 | Spinal myoclonus | 1 | SCN8A CL E G H | 6334 | 306 | | | | ORPHA | 1 | | 1799 | 10596 | 600702 |
HP:0001336 | HP:0012462 | Chin myoclonus | 1 | SDHA CL E G H | 6389 | 252011 | Mitochondrial complex II deficiency | 252011 | C1855008 | OMIM | 1 | | 2503 | 10680 | 600857 |
HP:0001336 | HP:0025097 | Eyelid myoclonus | 1 | SDHA CL E G H | 6389 | 252011 | Mitochondrial complex II deficiency | 252011 | C1855008 | OMIM | 1 | | 2503 | 10680 | 600857 |
HP:0001336 | HP:0010531 | Spinal myoclonus | 1 | SDHA CL E G H | 6389 | 252011 | Mitochondrial complex II deficiency | 252011 | C1855008 | OMIM | 1 | | 2503 | 10680 | 600857 |
HP:0001336 | HP:0025357 | Erratic myoclonus | 1 | SDHA CL E G H | 6389 | 252011 | Mitochondrial complex II deficiency | 252011 | C1855008 | OMIM | 1 | | 2503 | 10680 | 600857 |
HP:0001336 | HP:0003739 | Myoclonic spasms | 1 | SDHA CL E G H | 6389 | 252011 | Mitochondrial complex II deficiency | 252011 | C1855008 | OMIM | 1 | | 2503 | 10680 | 600857 |
HP:0001336 | HP:0012323 | Sleep myoclonus | 1 | SDHA CL E G H | 6389 | 252011 | Mitochondrial complex II deficiency | 252011 | C1855008 | OMIM | 1 | | 2503 | 10680 | 600857 |
HP:0001336 | HP:0007000 | Morning myoclonic jerks | 1 | SDHA CL E G H | 6389 | 252011 | Mitochondrial complex II deficiency | 252011 | C1855008 | OMIM | 1 | | 2503 | 10680 | 600857 |
HP:0001336 | HP:0031986 | Polyminimyoclonus | 1 | SDHA CL E G H | 6389 | 252011 | Mitochondrial complex II deficiency | 252011 | C1855008 | OMIM | 1 | | 2503 | 10680 | 600857 |
HP:0001336 | HP:0040148 | Cortical myoclonus | 1 | SDHA CL E G H | 6389 | 252011 | Mitochondrial complex II deficiency | 252011 | C1855008 | OMIM | 1 | | 2503 | 10680 | 600857 |
HP:0001336 | HP:0045084 | Limb myoclonus | 1 | SDHA CL E G H | 6389 | 252011 | Mitochondrial complex II deficiency | 252011 | C1855008 | OMIM | 1 | | 2503 | 10680 | 600857 |
HP:0001336 | HP:0010530 | Palatal myoclonus | 1 | SDHA CL E G H | 6389 | 252011 | Mitochondrial complex II deficiency | 252011 | C1855008 | OMIM | 1 | | 2503 | 10680 | 600857 |
HP:0001336 | HP:0007000 | Morning myoclonic jerks | 1 | SDHAF1 CL E G H | 644096 | 252011 | Mitochondrial complex II deficiency | 252011 | C1855008 | OMIM | 1 | | 77 | 33867 | 612848 |
HP:0001336 | HP:0031986 | Polyminimyoclonus | 1 | SDHAF1 CL E G H | 644096 | 252011 | Mitochondrial complex II deficiency | 252011 | C1855008 | OMIM | 1 | | 77 | 33867 | 612848 |
HP:0001336 | HP:0040148 | Cortical myoclonus | 1 | SDHAF1 CL E G H | 644096 | 252011 | Mitochondrial complex II deficiency | 252011 | C1855008 | OMIM | 1 | | 77 | 33867 | 612848 |
HP:0001336 | HP:0045084 | Limb myoclonus | 1 | SDHAF1 CL E G H | 644096 | 252011 | Mitochondrial complex II deficiency | 252011 | C1855008 | OMIM | 1 | | 77 | 33867 | 612848 |
HP:0001336 | HP:0010530 | Palatal myoclonus | 1 | SDHAF1 CL E G H | 644096 | 252011 | Mitochondrial complex II deficiency | 252011 | C1855008 | OMIM | 1 | | 77 | 33867 | 612848 |
HP:0001336 | HP:0025097 | Eyelid myoclonus | 1 | SDHAF1 CL E G H | 644096 | 252011 | Mitochondrial complex II deficiency | 252011 | C1855008 | OMIM | 1 | | 77 | 33867 | 612848 |
HP:0001336 | HP:0010531 | Spinal myoclonus | 1 | SDHAF1 CL E G H | 644096 | 252011 | Mitochondrial complex II deficiency | 252011 | C1855008 | OMIM | 1 | | 77 | 33867 | 612848 |
HP:0001336 | HP:0012462 | Chin myoclonus | 1 | SDHAF1 CL E G H | 644096 | 252011 | Mitochondrial complex II deficiency | 252011 | C1855008 | OMIM | 1 | | 77 | 33867 | 612848 |
HP:0001336 | HP:0025357 | Erratic myoclonus | 1 | SDHAF1 CL E G H | 644096 | 252011 | Mitochondrial complex II deficiency | 252011 | C1855008 | OMIM | 1 | | 77 | 33867 | 612848 |
HP:0001336 | HP:0003739 | Myoclonic spasms | 1 | SDHAF1 CL E G H | 644096 | 252011 | Mitochondrial complex II deficiency | 252011 | C1855008 | OMIM | 1 | | 77 | 33867 | 612848 |
HP:0001336 | HP:0012323 | Sleep myoclonus | 1 | SDHAF1 CL E G H | 644096 | 252011 | Mitochondrial complex II deficiency | 252011 | C1855008 | OMIM | 1 | | 77 | 33867 | 612848 |
HP:0001336 | HP:0010531 | Spinal myoclonus | 1 | SDHD CL E G H | 6392 | 252011 | Mitochondrial complex II deficiency | 252011 | C1855008 | OMIM | 1 | | 686 | 10683 | 602690 |
HP:0001336 | HP:0012462 | Chin myoclonus | 1 | SDHD CL E G H | 6392 | 252011 | Mitochondrial complex II deficiency | 252011 | C1855008 | OMIM | 1 | | 686 | 10683 | 602690 |
HP:0001336 | HP:0025097 | Eyelid myoclonus | 1 | SDHD CL E G H | 6392 | 252011 | Mitochondrial complex II deficiency | 252011 | C1855008 | OMIM | 1 | | 686 | 10683 | 602690 |
HP:0001336 | HP:0003739 | Myoclonic spasms | 1 | SDHD CL E G H | 6392 | 252011 | Mitochondrial complex II deficiency | 252011 | C1855008 | OMIM | 1 | | 686 | 10683 | 602690 |
HP:0001336 | HP:0012323 | Sleep myoclonus | 1 | SDHD CL E G H | 6392 | 252011 | Mitochondrial complex II deficiency | 252011 | C1855008 | OMIM | 1 | | 686 | 10683 | 602690 |
HP:0001336 | HP:0025357 | Erratic myoclonus | 1 | SDHD CL E G H | 6392 | 252011 | Mitochondrial complex II deficiency | 252011 | C1855008 | OMIM | 1 | | 686 | 10683 | 602690 |
HP:0001336 | HP:0007000 | Morning myoclonic jerks | 1 | SDHD CL E G H | 6392 | 252011 | Mitochondrial complex II deficiency | 252011 | C1855008 | OMIM | 1 | | 686 | 10683 | 602690 |
HP:0001336 | HP:0031986 | Polyminimyoclonus | 1 | SDHD CL E G H | 6392 | 252011 | Mitochondrial complex II deficiency | 252011 | C1855008 | OMIM | 1 | | 686 | 10683 | 602690 |
HP:0001336 | HP:0010530 | Palatal myoclonus | 1 | SDHD CL E G H | 6392 | 252011 | Mitochondrial complex II deficiency | 252011 | C1855008 | OMIM | 1 | | 686 | 10683 | 602690 |
HP:0001336 | HP:0040148 | Cortical myoclonus | 1 | SDHD CL E G H | 6392 | 252011 | Mitochondrial complex II deficiency | 252011 | C1855008 | OMIM | 1 | | 686 | 10683 | 602690 |
HP:0001336 | HP:0045084 | Limb myoclonus | 1 | SDHD CL E G H | 6392 | 252011 | Mitochondrial complex II deficiency | 252011 | C1855008 | OMIM | 1 | | 686 | 10683 | 602690 |
HP:0001336 | HP:0007000 | Morning myoclonic jerks | 1 | SERPINI1 CL E G H | 5274 | 604218 | Encephalopathy, familial, with neuroserpin inclusion bodies | 604218 | C1858680 | OMIM | 1 | | 310 | 8943 | 602445 |
HP:0001336 | HP:0031986 | Polyminimyoclonus | 1 | SERPINI1 CL E G H | 5274 | 604218 | Encephalopathy, familial, with neuroserpin inclusion bodies | 604218 | C1858680 | OMIM | 1 | | 310 | 8943 | 602445 |
HP:0001336 | HP:0045084 | Limb myoclonus | 1 | SERPINI1 CL E G H | 5274 | 604218 | Encephalopathy, familial, with neuroserpin inclusion bodies | 604218 | C1858680 | OMIM | 1 | | 310 | 8943 | 602445 |
HP:0001336 | HP:0010530 | Palatal myoclonus | 1 | SERPINI1 CL E G H | 5274 | 604218 | Encephalopathy, familial, with neuroserpin inclusion bodies | 604218 | C1858680 | OMIM | 1 | | 310 | 8943 | 602445 |
HP:0001336 | HP:0040148 | Cortical myoclonus | 1 | SERPINI1 CL E G H | 5274 | 604218 | Encephalopathy, familial, with neuroserpin inclusion bodies | 604218 | C1858680 | OMIM | 1 | | 310 | 8943 | 602445 |
HP:0001336 | HP:0010531 | Spinal myoclonus | 1 | SERPINI1 CL E G H | 5274 | 604218 | Encephalopathy, familial, with neuroserpin inclusion bodies | 604218 | C1858680 | OMIM | 1 | | 310 | 8943 | 602445 |
HP:0001336 | HP:0012462 | Chin myoclonus | 1 | SERPINI1 CL E G H | 5274 | 604218 | Encephalopathy, familial, with neuroserpin inclusion bodies | 604218 | C1858680 | OMIM | 1 | | 310 | 8943 | 602445 |
HP:0001336 | HP:0025097 | Eyelid myoclonus | 1 | SERPINI1 CL E G H | 5274 | 604218 | Encephalopathy, familial, with neuroserpin inclusion bodies | 604218 | C1858680 | OMIM | 1 | | 310 | 8943 | 602445 |
HP:0001336 | HP:0003739 | Myoclonic spasms | 1 | SERPINI1 CL E G H | 5274 | 604218 | Encephalopathy, familial, with neuroserpin inclusion bodies | 604218 | C1858680 | OMIM | 1 | | 310 | 8943 | 602445 |
HP:0001336 | HP:0012323 | Sleep myoclonus | 1 | SERPINI1 CL E G H | 5274 | 604218 | Encephalopathy, familial, with neuroserpin inclusion bodies | 604218 | C1858680 | OMIM | 1 | | 310 | 8943 | 602445 |
HP:0001336 | HP:0025357 | Erratic myoclonus | 1 | SERPINI1 CL E G H | 5274 | 604218 | Encephalopathy, familial, with neuroserpin inclusion bodies | 604218 | C1858680 | OMIM | 1 | | 310 | 8943 | 602445 |
HP:0001336 | HP:0012462 | Chin myoclonus | 1 | SGCE CL E G H | 8910 | 159900 | Myoclonic dystonia | 159900 | C1834570 | OMIM | 1 | | 568 | 10808 | 604149 |
HP:0001336 | HP:0025097 | Eyelid myoclonus | 1 | SGCE CL E G H | 8910 | 159900 | Myoclonic dystonia | 159900 | C1834570 | OMIM | 1 | | 568 | 10808 | 604149 |
HP:0001336 | HP:0010531 | Spinal myoclonus | 1 | SGCE CL E G H | 8910 | 159900 | Myoclonic dystonia | 159900 | C1834570 | OMIM | 1 | | 568 | 10808 | 604149 |
HP:0001336 | HP:0025357 | Erratic myoclonus | 1 | SGCE CL E G H | 8910 | 159900 | Myoclonic dystonia | 159900 | C1834570 | OMIM | 1 | | 568 | 10808 | 604149 |
HP:0001336 | HP:0003739 | Myoclonic spasms | 1 | SGCE CL E G H | 8910 | 159900 | Myoclonic dystonia | 159900 | C1834570 | OMIM | 1 | | 568 | 10808 | 604149 |
HP:0001336 | HP:0012323 | Sleep myoclonus | 1 | SGCE CL E G H | 8910 | 159900 | Myoclonic dystonia | 159900 | C1834570 | OMIM | 1 | | 568 | 10808 | 604149 |
HP:0001336 | HP:0007000 | Morning myoclonic jerks | 1 | SGCE CL E G H | 8910 | 159900 | Myoclonic dystonia | 159900 | C1834570 | OMIM | 1 | | 568 | 10808 | 604149 |
HP:0001336 | HP:0031986 | Polyminimyoclonus | 1 | SGCE CL E G H | 8910 | 159900 | Myoclonic dystonia | 159900 | C1834570 | OMIM | 1 | | 568 | 10808 | 604149 |
HP:0001336 | HP:0040148 | Cortical myoclonus | 1 | SGCE CL E G H | 8910 | 159900 | Myoclonic dystonia | 159900 | C1834570 | OMIM | 1 | | 568 | 10808 | 604149 |
HP:0001336 | HP:0045084 | Limb myoclonus | 1 | SGCE CL E G H | 8910 | 159900 | Myoclonic dystonia | 159900 | C1834570 | OMIM | 1 | | 568 | 10808 | 604149 |
HP:0001336 | HP:0010530 | Palatal myoclonus | 1 | SGCE CL E G H | 8910 | 159900 | Myoclonic dystonia | 159900 | C1834570 | OMIM | 1 | | 568 | 10808 | 604149 |
HP:0001336 | HP:0040148 | Cortical myoclonus | 1 | SIK1 CL E G H | 150094 | 1935 | | | | ORPHA | 1 | | 909 | 11142 | 605705 |
HP:0001336 | HP:0045084 | Limb myoclonus | 1 | SIK1 CL E G H | 150094 | 1935 | | | | ORPHA | 1 | | 909 | 11142 | 605705 |
HP:0001336 | HP:0010530 | Palatal myoclonus | 1 | SIK1 CL E G H | 150094 | 1935 | | | | ORPHA | 1 | | 909 | 11142 | 605705 |
HP:0001336 | HP:0010531 | Spinal myoclonus | 1 | SIK1 CL E G H | 150094 | 1935 | | | | ORPHA | 1 | | 909 | 11142 | 605705 |
HP:0001336 | HP:0012462 | Chin myoclonus | 1 | SIK1 CL E G H | 150094 | 1935 | | | | ORPHA | 1 | | 909 | 11142 | 605705 |
HP:0001336 | HP:0025097 | Eyelid myoclonus | 1 | SIK1 CL E G H | 150094 | 1935 | | | | ORPHA | 1 | | 909 | 11142 | 605705 |
HP:0001336 | HP:0025357 | Erratic myoclonus | 1 | SIK1 CL E G H | 150094 | 1935 | | | | ORPHA | 1 | | 909 | 11142 | 605705 |
HP:0001336 | HP:0003739 | Myoclonic spasms | 1 | SIK1 CL E G H | 150094 | 1935 | | | | ORPHA | 1 | | 909 | 11142 | 605705 |
HP:0001336 | HP:0012323 | Sleep myoclonus | 1 | SIK1 CL E G H | 150094 | 1935 | | | | ORPHA | 1 | | 909 | 11142 | 605705 |
HP:0001336 | HP:0007000 | Morning myoclonic jerks | 1 | SIK1 CL E G H | 150094 | 1935 | | | | ORPHA | 1 | | 909 | 11142 | 605705 |
HP:0001336 | HP:0031986 | Polyminimyoclonus | 1 | SIK1 CL E G H | 150094 | 1935 | | | | ORPHA | 1 | | 909 | 11142 | 605705 |
HP:0001336 | HP:0007000 | Morning myoclonic jerks | 1 | SIK1 CL E G H | 150094 | 3451 | Meier Blumberg Imahorn syndrome | | | ORPHA | 1 | | 909 | 11142 | 605705 |
HP:0001336 | HP:0031986 | Polyminimyoclonus | 1 | SIK1 CL E G H | 150094 | 3451 | Meier Blumberg Imahorn syndrome | | | ORPHA | 1 | | 909 | 11142 | 605705 |
HP:0001336 | HP:0045084 | Limb myoclonus | 1 | SIK1 CL E G H | 150094 | 3451 | Meier Blumberg Imahorn syndrome | | | ORPHA | 1 | | 909 | 11142 | 605705 |
HP:0001336 | HP:0010530 | Palatal myoclonus | 1 | SIK1 CL E G H | 150094 | 3451 | Meier Blumberg Imahorn syndrome | | | ORPHA | 1 | | 909 | 11142 | 605705 |
HP:0001336 | HP:0040148 | Cortical myoclonus | 1 | SIK1 CL E G H | 150094 | 3451 | Meier Blumberg Imahorn syndrome | | | ORPHA | 1 | | 909 | 11142 | 605705 |
HP:0001336 | HP:0025097 | Eyelid myoclonus | 1 | SIK1 CL E G H | 150094 | 3451 | Meier Blumberg Imahorn syndrome | | | ORPHA | 1 | | 909 | 11142 | 605705 |
HP:0001336 | HP:0010531 | Spinal myoclonus | 1 | SIK1 CL E G H | 150094 | 3451 | Meier Blumberg Imahorn syndrome | | | ORPHA | 1 | | 909 | 11142 | 605705 |
HP:0001336 | HP:0012462 | Chin myoclonus | 1 | SIK1 CL E G H | 150094 | 3451 | Meier Blumberg Imahorn syndrome | | | ORPHA | 1 | | 909 | 11142 | 605705 |
HP:0001336 | HP:0025357 | Erratic myoclonus | 1 | SIK1 CL E G H | 150094 | 3451 | Meier Blumberg Imahorn syndrome | | | ORPHA | 1 | | 909 | 11142 | 605705 |
HP:0001336 | HP:0003739 | Myoclonic spasms | 1 | SIK1 CL E G H | 150094 | 3451 | Meier Blumberg Imahorn syndrome | | | ORPHA | 1 | | 909 | 11142 | 605705 |
HP:0001336 | HP:0012323 | Sleep myoclonus | 1 | SIK1 CL E G H | 150094 | 3451 | Meier Blumberg Imahorn syndrome | | | ORPHA | 1 | | 909 | 11142 | 605705 |
HP:0001336 | HP:0025357 | Erratic myoclonus | 1 | SLC25A22 CL E G H | 79751 | 1935 | | | | ORPHA | 1 | | 551 | 19954 | 609302 |
HP:0001336 | HP:0003739 | Myoclonic spasms | 1 | SLC25A22 CL E G H | 79751 | 1935 | | | | ORPHA | 1 | | 551 | 19954 | 609302 |
HP:0001336 | HP:0012323 | Sleep myoclonus | 1 | SLC25A22 CL E G H | 79751 | 1935 | | | | ORPHA | 1 | | 551 | 19954 | 609302 |
HP:0001336 | HP:0007000 | Morning myoclonic jerks | 1 | SLC25A22 CL E G H | 79751 | 1935 | | | | ORPHA | 1 | | 551 | 19954 | 609302 |
HP:0001336 | HP:0031986 | Polyminimyoclonus | 1 | SLC25A22 CL E G H | 79751 | 1935 | | | | ORPHA | 1 | | 551 | 19954 | 609302 |
HP:0001336 | HP:0040148 | Cortical myoclonus | 1 | SLC25A22 CL E G H | 79751 | 1935 | | | | ORPHA | 1 | | 551 | 19954 | 609302 |
HP:0001336 | HP:0045084 | Limb myoclonus | 1 | SLC25A22 CL E G H | 79751 | 1935 | | | | ORPHA | 1 | | 551 | 19954 | 609302 |
HP:0001336 | HP:0010530 | Palatal myoclonus | 1 | SLC25A22 CL E G H | 79751 | 1935 | | | | ORPHA | 1 | | 551 | 19954 | 609302 |
HP:0001336 | HP:0012462 | Chin myoclonus | 1 | SLC25A22 CL E G H | 79751 | 1935 | | | | ORPHA | 1 | | 551 | 19954 | 609302 |
HP:0001336 | HP:0025097 | Eyelid myoclonus | 1 | SLC25A22 CL E G H | 79751 | 1935 | | | | ORPHA | 1 | | 551 | 19954 | 609302 |
HP:0001336 | HP:0010531 | Spinal myoclonus | 1 | SLC25A22 CL E G H | 79751 | 1935 | | | | ORPHA | 1 | | 551 | 19954 | 609302 |
HP:0001336 | HP:0031986 | Polyminimyoclonus | 1 | SLC25A46 CL E G H | 91137 | 616505 | NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB | 616505 | C4225302 | OMIM | 1 | | 385 | 25198 | 610826 |
HP:0001336 | HP:0007000 | Morning myoclonic jerks | 1 | SLC25A46 CL E G H | 91137 | 616505 | NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB | 616505 | C4225302 | OMIM | 1 | | 385 | 25198 | 610826 |
HP:0001336 | HP:0010530 | Palatal myoclonus | 1 | SLC25A46 CL E G H | 91137 | 616505 | NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB | 616505 | C4225302 | OMIM | 1 | | 385 | 25198 | 610826 |
HP:0001336 | HP:0040148 | Cortical myoclonus | 1 | SLC25A46 CL E G H | 91137 | 616505 | NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB | 616505 | C4225302 | OMIM | 1 | | 385 | 25198 | 610826 |
HP:0001336 | HP:0045084 | Limb myoclonus | 1 | SLC25A46 CL E G H | 91137 | 616505 | NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB | 616505 | C4225302 | OMIM | 1 | | 385 | 25198 | 610826 |
HP:0001336 | HP:0010531 | Spinal myoclonus | 1 | SLC25A46 CL E G H | 91137 | 616505 | NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB | 616505 | C4225302 | OMIM | 1 | | 385 | 25198 | 610826 |
HP:0001336 | HP:0012462 | Chin myoclonus | 1 | SLC25A46 CL E G H | 91137 | 616505 | NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB | 616505 | C4225302 | OMIM | 1 | | 385 | 25198 | 610826 |
HP:0001336 | HP:0025097 | Eyelid myoclonus | 1 | SLC25A46 CL E G H | 91137 | 616505 | NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB | 616505 | C4225302 | OMIM | 1 | | 385 | 25198 | 610826 |
HP:0001336 | HP:0012323 | Sleep myoclonus | 1 | SLC25A46 CL E G H | 91137 | 616505 | NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB | 616505 | C4225302 | OMIM | 1 | | 385 | 25198 | 610826 |
HP:0001336 | HP:0025357 | Erratic myoclonus | 1 | SLC25A46 CL E G H | 91137 | 616505 | NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB | 616505 | C4225302 | OMIM | 1 | | 385 | 25198 | 610826 |
HP:0001336 | HP:0003739 | Myoclonic spasms | 1 | SLC25A46 CL E G H | 91137 | 616505 | NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB | 616505 | C4225302 | OMIM | 1 | | 385 | 25198 | 610826 |
HP:0001336 | HP:0007000 | Morning myoclonic jerks | 1 | SLC2A1 CL E G H | 6513 | 606777 | GLUT1 deficiency syndrome 1 | 606777 | CN030711 | OMIM | 1 | | 965 | 11005 | 138140 |
HP:0001336 | HP:0031986 | Polyminimyoclonus | 1 | SLC2A1 CL E G H | 6513 | 606777 | GLUT1 deficiency syndrome 1 | 606777 | CN030711 | OMIM | 1 | | 965 | 11005 | 138140 |
HP:0001336 | HP:0040148 | Cortical myoclonus | 1 | SLC2A1 CL E G H | 6513 | 606777 | GLUT1 deficiency syndrome 1 | 606777 | CN030711 | OMIM | 1 | | 965 | 11005 | 138140 |
HP:0001336 | HP:0045084 | Limb myoclonus | 1 | SLC2A1 CL E G H | 6513 | 606777 | GLUT1 deficiency syndrome 1 | 606777 | CN030711 | OMIM | 1 | | 965 | 11005 | 138140 |
HP:0001336 | HP:0010530 | Palatal myoclonus | 1 | SLC2A1 CL E G H | 6513 | 606777 | GLUT1 deficiency syndrome 1 | 606777 | CN030711 | OMIM | 1 | | 965 | 11005 | 138140 |
HP:0001336 | HP:0012462 | Chin myoclonus | 1 | SLC2A1 CL E G H | 6513 | 606777 | GLUT1 deficiency syndrome 1 | 606777 | CN030711 | OMIM | 1 | | 965 | 11005 | 138140 |
HP:0001336 | HP:0025097 | Eyelid myoclonus | 1 | SLC2A1 CL E G H | 6513 | 606777 | GLUT1 deficiency syndrome 1 | 606777 | CN030711 | OMIM | 1 | | 965 | 11005 | 138140 |
HP:0001336 | HP:0010531 | Spinal myoclonus | 1 | SLC2A1 CL E G H | 6513 | 606777 | GLUT1 deficiency syndrome 1 | 606777 | CN030711 | OMIM | 1 | | 965 | 11005 | 138140 |
HP:0001336 | HP:0025357 | Erratic myoclonus | 1 | SLC2A1 CL E G H | 6513 | 606777 | GLUT1 deficiency syndrome 1 | 606777 | CN030711 | OMIM | 1 | | 965 | 11005 | 138140 |
HP:0001336 | HP:0003739 | Myoclonic spasms | 1 | SLC2A1 CL E G H | 6513 | 606777 | GLUT1 deficiency syndrome 1 | 606777 | CN030711 | OMIM | 1 | | 965 | 11005 | 138140 |
HP:0001336 | HP:0012323 | Sleep myoclonus | 1 | SLC2A1 CL E G H | 6513 | 606777 | GLUT1 deficiency syndrome 1 | 606777 | CN030711 | OMIM | 1 | | 965 | 11005 | 138140 |
HP:0001336 | HP:0007000 | Morning myoclonic jerks | 1 | SLC52A2 CL E G H | 79581 | 97229 | | | | ORPHA | 1 | | 520 | 30224 | 607882 |
HP:0001336 | HP:0031986 | Polyminimyoclonus | 1 | SLC52A2 CL E G H | 79581 | 97229 | | | | ORPHA | 1 | | 520 | 30224 | 607882 |
HP:0001336 | HP:0040148 | Cortical myoclonus | 1 | SLC52A2 CL E G H | 79581 | 97229 | | | | ORPHA | 1 | | 520 | 30224 | 607882 |
HP:0001336 | HP:0045084 | Limb myoclonus | 1 | SLC52A2 CL E G H | 79581 | 97229 | | | | ORPHA | 1 | | 520 | 30224 | 607882 |
HP:0001336 | HP:0010530 | Palatal myoclonus | 1 | SLC52A2 CL E G H | 79581 | 97229 | | | | ORPHA | 1 | | 520 | 30224 | 607882 |
HP:0001336 | HP:0025097 | Eyelid myoclonus | 1 | SLC52A2 CL E G H | 79581 | 97229 | | | | ORPHA | 1 | | 520 | 30224 | 607882 |
HP:0001336 | HP:0010531 | Spinal myoclonus | 1 | SLC52A2 CL E G H | 79581 | 97229 | | | | ORPHA | 1 | | 520 | 30224 | 607882 |
HP:0001336 | HP:0012462 | Chin myoclonus | 1 | SLC52A2 CL E G H | 79581 | 97229 | | | | ORPHA | 1 | | 520 | 30224 | 607882 |
HP:0001336 | HP:0025357 | Erratic myoclonus | 1 | SLC52A2 CL E G H | 79581 | 97229 | | | | ORPHA | 1 | | 520 | 30224 | 607882 |
HP:0001336 | HP:0003739 | Myoclonic spasms | 1 | SLC52A2 CL E G H | 79581 | 97229 | | | | ORPHA | 1 | | 520 | 30224 | 607882 |
HP:0001336 | HP:0012323 | Sleep myoclonus | 1 | SLC52A2 CL E G H | 79581 | 97229 | | | | ORPHA | 1 | | 520 | 30224 | 607882 |
HP:0001336 | HP:0010531 | Spinal myoclonus | 1 | SLC52A3 CL E G H | 113278 | 97229 | | | | ORPHA | 1 | | 464 | 16187 | 613350 |
HP:0001336 | HP:0012462 | Chin myoclonus | 1 | SLC52A3 CL E G H | 113278 | 97229 | | | | ORPHA | 1 | | 464 | 16187 | 613350 |
HP:0001336 | HP:0025097 | Eyelid myoclonus | 1 | SLC52A3 CL E G H | 113278 | 97229 | | | | ORPHA | 1 | | 464 | 16187 | 613350 |
HP:0001336 | HP:0003739 | Myoclonic spasms | 1 | SLC52A3 CL E G H | 113278 | 97229 | | | | ORPHA | 1 | | 464 | 16187 | 613350 |
HP:0001336 | HP:0012323 | Sleep myoclonus | 1 | SLC52A3 CL E G H | 113278 | 97229 | | | | ORPHA | 1 | | 464 | 16187 | 613350 |
HP:0001336 | HP:0025357 | Erratic myoclonus | 1 | SLC52A3 CL E G H | 113278 | 97229 | | | | ORPHA | 1 | | 464 | 16187 | 613350 |
HP:0001336 | HP:0007000 | Morning myoclonic jerks | 1 | SLC52A3 CL E G H | 113278 | 97229 | | | | ORPHA | 1 | | 464 | 16187 | 613350 |
HP:0001336 | HP:0031986 | Polyminimyoclonus | 1 | SLC52A3 CL E G H | 113278 | 97229 | | | | ORPHA | 1 | | 464 | 16187 | 613350 |
HP:0001336 | HP:0045084 | Limb myoclonus | 1 | SLC52A3 CL E G H | 113278 | 97229 | | | | ORPHA | 1 | | 464 | 16187 | 613350 |
HP:0001336 | HP:0010530 | Palatal myoclonus | 1 | SLC52A3 CL E G H | 113278 | 97229 | | | | ORPHA | 1 | | 464 | 16187 | 613350 |
HP:0001336 | HP:0040148 | Cortical myoclonus | 1 | SLC52A3 CL E G H | 113278 | 97229 | | | | ORPHA | 1 | | 464 | 16187 | 613350 |
HP:0001336 | HP:0010531 | Spinal myoclonus | 1 | SLC6A5 CL E G H | 9152 | 3197 | Lateral body wall defect | | | ORPHA | 1 | | 718 | 11051 | 604159 |
HP:0001336 | HP:0012462 | Chin myoclonus | 1 | SLC6A5 CL E G H | 9152 | 3197 | Lateral body wall defect | | | ORPHA | 1 | | 718 | 11051 | 604159 |
HP:0001336 | HP:0025097 | Eyelid myoclonus | 1 | SLC6A5 CL E G H | 9152 | 3197 | Lateral body wall defect | | | ORPHA | 1 | | 718 | 11051 | 604159 |
HP:0001336 | HP:0003739 | Myoclonic spasms | 1 | SLC6A5 CL E G H | 9152 | 3197 | Lateral body wall defect | | | ORPHA | 1 | | 718 | 11051 | 604159 |
HP:0001336 | HP:0012323 | Sleep myoclonus | 1 | SLC6A5 CL E G H | 9152 | 3197 | Lateral body wall defect | | | ORPHA | 1 | | 718 | 11051 | 604159 |
HP:0001336 | HP:0025357 | Erratic myoclonus | 1 | SLC6A5 CL E G H | 9152 | 3197 | Lateral body wall defect | | | ORPHA | 1 | | 718 | 11051 | 604159 |
HP:0001336 | HP:0031986 | Polyminimyoclonus | 1 | SLC6A5 CL E G H | 9152 | 3197 | Lateral body wall defect | | | ORPHA | 1 | | 718 | 11051 | 604159 |
HP:0001336 | HP:0007000 | Morning myoclonic jerks | 1 | SLC6A5 CL E G H | 9152 | 3197 | Lateral body wall defect | | | ORPHA | 1 | | 718 | 11051 | 604159 |
HP:0001336 | HP:0010530 | Palatal myoclonus | 1 | SLC6A5 CL E G H | 9152 | 3197 | Lateral body wall defect | | | ORPHA | 1 | | 718 | 11051 | 604159 |
HP:0001336 | HP:0040148 | Cortical myoclonus | 1 | SLC6A5 CL E G H | 9152 | 3197 | Lateral body wall defect | | | ORPHA | 1 | | 718 | 11051 | 604159 |
HP:0001336 | HP:0045084 | Limb myoclonus | 1 | SLC6A5 CL E G H | 9152 | 3197 | Lateral body wall defect | | | ORPHA | 1 | | 718 | 11051 | 604159 |
HP:0001336 | HP:0010531 | Spinal myoclonus | 1 | SNCA CL E G H | 6622 | 171695 | | | | ORPHA | 1 | | 193 | 11138 | 163890 |
HP:0001336 | HP:0012462 | Chin myoclonus | 1 | SNCA CL E G H | 6622 | 171695 | | | | ORPHA | 1 | | 193 | 11138 | 163890 |
HP:0001336 | HP:0025097 | Eyelid myoclonus | 1 | SNCA CL E G H | 6622 | 171695 | | | | ORPHA | 1 | | 193 | 11138 | 163890 |
HP:0001336 | HP:0003739 | Myoclonic spasms | 1 | SNCA CL E G H | 6622 | 171695 | | | | ORPHA | 1 | | 193 | 11138 | 163890 |
HP:0001336 | HP:0012323 | Sleep myoclonus | 1 | SNCA CL E G H | 6622 | 171695 | | | | ORPHA | 1 | | 193 | 11138 | 163890 |
HP:0001336 | HP:0025357 | Erratic myoclonus | 1 | SNCA CL E G H | 6622 | 171695 | | | | ORPHA | 1 | | 193 | 11138 | 163890 |
HP:0001336 | HP:0007000 | Morning myoclonic jerks | 1 | SNCA CL E G H | 6622 | 171695 | | | | ORPHA | 1 | | 193 | 11138 | 163890 |
HP:0001336 | HP:0031986 | Polyminimyoclonus | 1 | SNCA CL E G H | 6622 | 171695 | | | | ORPHA | 1 | | 193 | 11138 | 163890 |
HP:0001336 | HP:0045084 | Limb myoclonus | 1 | SNCA CL E G H | 6622 | 171695 | | | | ORPHA | 1 | | 193 | 11138 | 163890 |
HP:0001336 | HP:0010530 | Palatal myoclonus | 1 | SNCA CL E G H | 6622 | 171695 | | | | ORPHA | 1 | | 193 | 11138 | 163890 |
HP:0001336 | HP:0040148 | Cortical myoclonus | 1 | SNCA CL E G H | 6622 | 171695 | | | | ORPHA | 1 | | 193 | 11138 | 163890 |
HP:0001336 | HP:0007000 | Morning myoclonic jerks | 1 | SNCA CL E G H | 6622 | 168601 | Parkinson disease 1 | 168601 | C1868595 | OMIM | 1 | | 193 | 11138 | 163890 |
HP:0001336 | HP:0031986 | Polyminimyoclonus | 1 | SNCA CL E G H | 6622 | 168601 | Parkinson disease 1 | 168601 | C1868595 | OMIM | 1 | | 193 | 11138 | 163890 |
HP:0001336 | HP:0040148 | Cortical myoclonus | 1 | SNCA CL E G H | 6622 | 168601 | Parkinson disease 1 | 168601 | C1868595 | OMIM | 1 | | 193 | 11138 | 163890 |
HP:0001336 | HP:0045084 | Limb myoclonus | 1 | SNCA CL E G H | 6622 | 168601 | Parkinson disease 1 | 168601 | C1868595 | OMIM | 1 | | 193 | 11138 | 163890 |
HP:0001336 | HP:0010530 | Palatal myoclonus | 1 | SNCA CL E G H | 6622 | 168601 | Parkinson disease 1 | 168601 | C1868595 | OMIM | 1 | | 193 | 11138 | 163890 |
HP:0001336 | HP:0010531 | Spinal myoclonus | 1 | SNCA CL E G H | 6622 | 168601 | Parkinson disease 1 | 168601 | C1868595 | OMIM | 1 | | 193 | 11138 | 163890 |
HP:0001336 | HP:0012462 | Chin myoclonus | 1 | SNCA CL E G H | 6622 | 168601 | Parkinson disease 1 | 168601 | C1868595 | OMIM | 1 | | 193 | 11138 | 163890 |
HP:0001336 | HP:0025097 | Eyelid myoclonus | 1 | SNCA CL E G H | 6622 | 168601 | Parkinson disease 1 | 168601 | C1868595 | OMIM | 1 | | 193 | 11138 | 163890 |
HP:0001336 | HP:0012323 | Sleep myoclonus | 1 | SNCA CL E G H | 6622 | 168601 | Parkinson disease 1 | 168601 | C1868595 | OMIM | 1 | | 193 | 11138 | 163890 |
HP:0001336 | HP:0025357 | Erratic myoclonus | 1 | SNCA CL E G H | 6622 | 168601 | Parkinson disease 1 | 168601 | C1868595 | OMIM | 1 | | 193 | 11138 | 163890 |
HP:0001336 | HP:0003739 | Myoclonic spasms | 1 | SNCA CL E G H | 6622 | 168601 | Parkinson disease 1 | 168601 | C1868595 | OMIM | 1 | | 193 | 11138 | 163890 |
HP:0001336 | HP:0025357 | Erratic myoclonus | 1 | SORL1 CL E G H | 6653 | 1020 | | | | ORPHA | 1 | | 537 | 11185 | 602005 |
HP:0001336 | HP:0003739 | Myoclonic spasms | 1 | SORL1 CL E G H | 6653 | 1020 | | | | ORPHA | 1 | | 537 | 11185 | 602005 |
HP:0001336 | HP:0012323 | Sleep myoclonus | 1 | SORL1 CL E G H | 6653 | 1020 | | | | ORPHA | 1 | | 537 | 11185 | 602005 |
HP:0001336 | HP:0007000 | Morning myoclonic jerks | 1 | SORL1 CL E G H | 6653 | 1020 | | | | ORPHA | 1 | | 537 | 11185 | 602005 |
HP:0001336 | HP:0031986 | Polyminimyoclonus | 1 | SORL1 CL E G H | 6653 | 1020 | | | | ORPHA | 1 | | 537 | 11185 | 602005 |
HP:0001336 | HP:0040148 | Cortical myoclonus | 1 | SORL1 CL E G H | 6653 | 1020 | | | | ORPHA | 1 | | 537 | 11185 | 602005 |
HP:0001336 | HP:0045084 | Limb myoclonus | 1 | SORL1 CL E G H | 6653 | 1020 | | | | ORPHA | 1 | | 537 | 11185 | 602005 |
HP:0001336 | HP:0010530 | Palatal myoclonus | 1 | SORL1 CL E G H | 6653 | 1020 | | | | ORPHA | 1 | | 537 | 11185 | 602005 |
HP:0001336 | HP:0012462 | Chin myoclonus | 1 | SORL1 CL E G H | 6653 | 1020 | | | | ORPHA | 1 | | 537 | 11185 | 602005 |
HP:0001336 | HP:0025097 | Eyelid myoclonus | 1 | SORL1 CL E G H | 6653 | 1020 | | | | ORPHA | 1 | | 537 | 11185 | 602005 |
HP:0001336 | HP:0010531 | Spinal myoclonus | 1 | SORL1 CL E G H | 6653 | 1020 | | | | ORPHA | 1 | | 537 | 11185 | 602005 |
HP:0001336 | HP:0010531 | Spinal myoclonus | 1 | SPTAN1 CL E G H | 6709 | 3451 | Meier Blumberg Imahorn syndrome | | | ORPHA | 1 | | 2267 | 11273 | 182810 |
HP:0001336 | HP:0012462 | Chin myoclonus | 1 | SPTAN1 CL E G H | 6709 | 3451 | Meier Blumberg Imahorn syndrome | | | ORPHA | 1 | | 2267 | 11273 | 182810 |
HP:0001336 | HP:0025097 | Eyelid myoclonus | 1 | SPTAN1 CL E G H | 6709 | 3451 | Meier Blumberg Imahorn syndrome | | | ORPHA | 1 | | 2267 | 11273 | 182810 |
HP:0001336 | HP:0003739 | Myoclonic spasms | 1 | SPTAN1 CL E G H | 6709 | 3451 | Meier Blumberg Imahorn syndrome | | | ORPHA | 1 | | 2267 | 11273 | 182810 |
HP:0001336 | HP:0012323 | Sleep myoclonus | 1 | SPTAN1 CL E G H | 6709 | 3451 | Meier Blumberg Imahorn syndrome | | | ORPHA | 1 | | 2267 | 11273 | 182810 |
HP:0001336 | HP:0025357 | Erratic myoclonus | 1 | SPTAN1 CL E G H | 6709 | 3451 | Meier Blumberg Imahorn syndrome | | | ORPHA | 1 | | 2267 | 11273 | 182810 |
HP:0001336 | HP:0007000 | Morning myoclonic jerks | 1 | SPTAN1 CL E G H | 6709 | 3451 | Meier Blumberg Imahorn syndrome | | | ORPHA | 1 | | 2267 | 11273 | 182810 |
HP:0001336 | HP:0031986 | Polyminimyoclonus | 1 | SPTAN1 CL E G H | 6709 | 3451 | Meier Blumberg Imahorn syndrome | | | ORPHA | 1 | | 2267 | 11273 | 182810 |
HP:0001336 | HP:0010530 | Palatal myoclonus | 1 | SPTAN1 CL E G H | 6709 | 3451 | Meier Blumberg Imahorn syndrome | | | ORPHA | 1 | | 2267 | 11273 | 182810 |
HP:0001336 | HP:0040148 | Cortical myoclonus | 1 | SPTAN1 CL E G H | 6709 | 3451 | Meier Blumberg Imahorn syndrome | | | ORPHA | 1 | | 2267 | 11273 | 182810 |
HP:0001336 | HP:0045084 | Limb myoclonus | 1 | SPTAN1 CL E G H | 6709 | 3451 | Meier Blumberg Imahorn syndrome | | | ORPHA | 1 | | 2267 | 11273 | 182810 |
HP:0001336 | HP:0007000 | Morning myoclonic jerks | 1 | ST3GAL3 CL E G H | 6487 | 3451 | Meier Blumberg Imahorn syndrome | | | ORPHA | 1 | | 340 | 10866 | 606494 |
HP:0001336 | HP:0031986 | Polyminimyoclonus | 1 | ST3GAL3 CL E G H | 6487 | 3451 | Meier Blumberg Imahorn syndrome | | | ORPHA | 1 | | 340 | 10866 | 606494 |
HP:0001336 | HP:0040148 | Cortical myoclonus | 1 | ST3GAL3 CL E G H | 6487 | 3451 | Meier Blumberg Imahorn syndrome | | | ORPHA | 1 | | 340 | 10866 | 606494 |
HP:0001336 | HP:0045084 | Limb myoclonus | 1 | ST3GAL3 CL E G H | 6487 | 3451 | Meier Blumberg Imahorn syndrome | | | ORPHA | 1 | | 340 | 10866 | 606494 |
HP:0001336 | HP:0010530 | Palatal myoclonus | 1 | ST3GAL3 CL E G H | 6487 | 3451 | Meier Blumberg Imahorn syndrome | | | ORPHA | 1 | | 340 | 10866 | 606494 |
HP:0001336 | HP:0010531 | Spinal myoclonus | 1 | ST3GAL3 CL E G H | 6487 | 3451 | Meier Blumberg Imahorn syndrome | | | ORPHA | 1 | | 340 | 10866 | 606494 |
HP:0001336 | HP:0012462 | Chin myoclonus | 1 | ST3GAL3 CL E G H | 6487 | 3451 | Meier Blumberg Imahorn syndrome | | | ORPHA | 1 | | 340 | 10866 | 606494 |
HP:0001336 | HP:0025097 | Eyelid myoclonus | 1 | ST3GAL3 CL E G H | 6487 | 3451 | Meier Blumberg Imahorn syndrome | | | ORPHA | 1 | | 340 | 10866 | 606494 |
HP:0001336 | HP:0012323 | Sleep myoclonus | 1 | ST3GAL3 CL E G H | 6487 | 3451 | Meier Blumberg Imahorn syndrome | | | ORPHA | 1 | | 340 | 10866 | 606494 |
HP:0001336 | HP:0025357 | Erratic myoclonus | 1 | ST3GAL3 CL E G H | 6487 | 3451 | Meier Blumberg Imahorn syndrome | | | ORPHA | 1 | | 340 | 10866 | 606494 |
HP:0001336 | HP:0003739 | Myoclonic spasms | 1 | ST3GAL3 CL E G H | 6487 | 3451 | Meier Blumberg Imahorn syndrome | | | ORPHA | 1 | | 340 | 10866 | 606494 |
HP:0001336 | HP:0012462 | Chin myoclonus | 1 | ST3GAL5 CL E G H | 8869 | 609056 | Amish infantile epilepsy syndrome | 609056 | C1836824 | OMIM | 1 | | 373 | 10872 | 604402 |
HP:0001336 | HP:0025097 | Eyelid myoclonus | 1 | ST3GAL5 CL E G H | 8869 | 609056 | Amish infantile epilepsy syndrome | 609056 | C1836824 | OMIM | 1 | | 373 | 10872 | 604402 |
HP:0001336 | HP:0010531 | Spinal myoclonus | 1 | ST3GAL5 CL E G H | 8869 | 609056 | Amish infantile epilepsy syndrome | 609056 | C1836824 | OMIM | 1 | | 373 | 10872 | 604402 |
HP:0001336 | HP:0025357 | Erratic myoclonus | 1 | ST3GAL5 CL E G H | 8869 | 609056 | Amish infantile epilepsy syndrome | 609056 | C1836824 | OMIM | 1 | | 373 | 10872 | 604402 |
HP:0001336 | HP:0003739 | Myoclonic spasms | 1 | ST3GAL5 CL E G H | 8869 | 609056 | Amish infantile epilepsy syndrome | 609056 | C1836824 | OMIM | 1 | | 373 | 10872 | 604402 |
HP:0001336 | HP:0012323 | Sleep myoclonus | 1 | ST3GAL5 CL E G H | 8869 | 609056 | Amish infantile epilepsy syndrome | 609056 | C1836824 | OMIM | 1 | | 373 | 10872 | 604402 |
HP:0001336 | HP:0007000 | Morning myoclonic jerks | 1 | ST3GAL5 CL E G H | 8869 | 609056 | Amish infantile epilepsy syndrome | 609056 | C1836824 | OMIM | 1 | | 373 | 10872 | 604402 |
HP:0001336 | HP:0031986 | Polyminimyoclonus | 1 | ST3GAL5 CL E G H | 8869 | 609056 | Amish infantile epilepsy syndrome | 609056 | C1836824 | OMIM | 1 | | 373 | 10872 | 604402 |
HP:0001336 | HP:0040148 | Cortical myoclonus | 1 | ST3GAL5 CL E G H | 8869 | 609056 | Amish infantile epilepsy syndrome | 609056 | C1836824 | OMIM | 1 | | 373 | 10872 | 604402 |
HP:0001336 | HP:0045084 | Limb myoclonus | 1 | ST3GAL5 CL E G H | 8869 | 609056 | Amish infantile epilepsy syndrome | 609056 | C1836824 | OMIM | 1 | | 373 | 10872 | 604402 |
HP:0001336 | HP:0010530 | Palatal myoclonus | 1 | ST3GAL5 CL E G H | 8869 | 609056 | Amish infantile epilepsy syndrome | 609056 | C1836824 | OMIM | 1 | | 373 | 10872 | 604402 |
HP:0001336 | HP:0012462 | Chin myoclonus | 1 | STAMBP CL E G H | 10617 | 614261 | Microcephaly-capillary malformation syndrome | 614261 | C3280296 | OMIM | 1 | | 186 | 16950 | 606247 |
HP:0001336 | HP:0025097 | Eyelid myoclonus | 1 | STAMBP CL E G H | 10617 | 614261 | Microcephaly-capillary malformation syndrome | 614261 | C3280296 | OMIM | 1 | | 186 | 16950 | 606247 |
HP:0001336 | HP:0010531 | Spinal myoclonus | 1 | STAMBP CL E G H | 10617 | 614261 | Microcephaly-capillary malformation syndrome | 614261 | C3280296 | OMIM | 1 | | 186 | 16950 | 606247 |
HP:0001336 | HP:0025357 | Erratic myoclonus | 1 | STAMBP CL E G H | 10617 | 614261 | Microcephaly-capillary malformation syndrome | 614261 | C3280296 | OMIM | 1 | | 186 | 16950 | 606247 |
HP:0001336 | HP:0003739 | Myoclonic spasms | 1 | STAMBP CL E G H | 10617 | 614261 | Microcephaly-capillary malformation syndrome | 614261 | C3280296 | OMIM | 1 | | 186 | 16950 | 606247 |
HP:0001336 | HP:0012323 | Sleep myoclonus | 1 | STAMBP CL E G H | 10617 | 614261 | Microcephaly-capillary malformation syndrome | 614261 | C3280296 | OMIM | 1 | | 186 | 16950 | 606247 |
HP:0001336 | HP:0007000 | Morning myoclonic jerks | 1 | STAMBP CL E G H | 10617 | 614261 | Microcephaly-capillary malformation syndrome | 614261 | C3280296 | OMIM | 1 | | 186 | 16950 | 606247 |
HP:0001336 | HP:0031986 | Polyminimyoclonus | 1 | STAMBP CL E G H | 10617 | 614261 | Microcephaly-capillary malformation syndrome | 614261 | C3280296 | OMIM | 1 | | 186 | 16950 | 606247 |
HP:0001336 | HP:0040148 | Cortical myoclonus | 1 | STAMBP CL E G H | 10617 | 614261 | Microcephaly-capillary malformation syndrome | 614261 | C3280296 | OMIM | 1 | | 186 | 16950 | 606247 |
HP:0001336 | HP:0045084 | Limb myoclonus | 1 | STAMBP CL E G H | 10617 | 614261 | Microcephaly-capillary malformation syndrome | 614261 | C3280296 | OMIM | 1 | | 186 | 16950 | 606247 |
HP:0001336 | HP:0010530 | Palatal myoclonus | 1 | STAMBP CL E G H | 10617 | 614261 | Microcephaly-capillary malformation syndrome | 614261 | C3280296 | OMIM | 1 | | 186 | 16950 | 606247 |
HP:0001336 | HP:0012462 | Chin myoclonus | 1 | STXBP1 CL E G H | 6812 | 3451 | Meier Blumberg Imahorn syndrome | | | ORPHA | 1 | | 1017 | 11444 | 602926 |
HP:0001336 | HP:0025097 | Eyelid myoclonus | 1 | STXBP1 CL E G H | 6812 | 3451 | Meier Blumberg Imahorn syndrome | | | ORPHA | 1 | | 1017 | 11444 | 602926 |
HP:0001336 | HP:0010531 | Spinal myoclonus | 1 | STXBP1 CL E G H | 6812 | 3451 | Meier Blumberg Imahorn syndrome | | | ORPHA | 1 | | 1017 | 11444 | 602926 |
HP:0001336 | HP:0025357 | Erratic myoclonus | 1 | STXBP1 CL E G H | 6812 | 3451 | Meier Blumberg Imahorn syndrome | | | ORPHA | 1 | | 1017 | 11444 | 602926 |
HP:0001336 | HP:0003739 | Myoclonic spasms | 1 | STXBP1 CL E G H | 6812 | 3451 | Meier Blumberg Imahorn syndrome | | | ORPHA | 1 | | 1017 | 11444 | 602926 |
HP:0001336 | HP:0012323 | Sleep myoclonus | 1 | STXBP1 CL E G H | 6812 | 3451 | Meier Blumberg Imahorn syndrome | | | ORPHA | 1 | | 1017 | 11444 | 602926 |
HP:0001336 | HP:0007000 | Morning myoclonic jerks | 1 | STXBP1 CL E G H | 6812 | 3451 | Meier Blumberg Imahorn syndrome | | | ORPHA | 1 | | 1017 | 11444 | 602926 |
HP:0001336 | HP:0031986 | Polyminimyoclonus | 1 | STXBP1 CL E G H | 6812 | 3451 | Meier Blumberg Imahorn syndrome | | | ORPHA | 1 | | 1017 | 11444 | 602926 |
HP:0001336 | HP:0040148 | Cortical myoclonus | 1 | STXBP1 CL E G H | 6812 | 3451 | Meier Blumberg Imahorn syndrome | | | ORPHA | 1 | | 1017 | 11444 | 602926 |
HP:0001336 | HP:0045084 | Limb myoclonus | 1 | STXBP1 CL E G H | 6812 | 3451 | Meier Blumberg Imahorn syndrome | | | ORPHA | 1 | | 1017 | 11444 | 602926 |
HP:0001336 | HP:0010530 | Palatal myoclonus | 1 | STXBP1 CL E G H | 6812 | 3451 | Meier Blumberg Imahorn syndrome | | | ORPHA | 1 | | 1017 | 11444 | 602926 |
HP:0001336 | HP:0010531 | Spinal myoclonus | 1 | TAF1 CL E G H | 6872 | 53351 | | | | ORPHA | 1 | | 534 | 11535 | 313650 |
HP:0001336 | HP:0012462 | Chin myoclonus | 1 | TAF1 CL E G H | 6872 | 53351 | | | | ORPHA | 1 | | 534 | 11535 | 313650 |
HP:0001336 | HP:0025097 | Eyelid myoclonus | 1 | TAF1 CL E G H | 6872 | 53351 | | | | ORPHA | 1 | | 534 | 11535 | 313650 |
HP:0001336 | HP:0003739 | Myoclonic spasms | 1 | TAF1 CL E G H | 6872 | 53351 | | | | ORPHA | 1 | | 534 | 11535 | 313650 |
HP:0001336 | HP:0012323 | Sleep myoclonus | 1 | TAF1 CL E G H | 6872 | 53351 | | | | ORPHA | 1 | | 534 | 11535 | 313650 |
HP:0001336 | HP:0025357 | Erratic myoclonus | 1 | TAF1 CL E G H | 6872 | 53351 | | | | ORPHA | 1 | | 534 | 11535 | 313650 |
HP:0001336 | HP:0007000 | Morning myoclonic jerks | 1 | TAF1 CL E G H | 6872 | 53351 | | | | ORPHA | 1 | | 534 | 11535 | 313650 |
HP:0001336 | HP:0031986 | Polyminimyoclonus | 1 | TAF1 CL E G H | 6872 | 53351 | | | | ORPHA | 1 | | 534 | 11535 | 313650 |
HP:0001336 | HP:0010530 | Palatal myoclonus | 1 | TAF1 CL E G H | 6872 | 53351 | | | | ORPHA | 1 | | 534 | 11535 | 313650 |
HP:0001336 | HP:0040148 | Cortical myoclonus | 1 | TAF1 CL E G H | 6872 | 53351 | | | | ORPHA | 1 | | 534 | 11535 | 313650 |
HP:0001336 | HP:0045084 | Limb myoclonus | 1 | TAF1 CL E G H | 6872 | 53351 | | | | ORPHA | 1 | | 534 | 11535 | 313650 |
HP:0001336 | HP:0007000 | Morning myoclonic jerks | 1 | TAF1 CL E G H | 6872 | 314250 | Dystonia 3, torsion, X-linked | 314250 | C1839130 | OMIM | 1 | | 534 | 11535 | 313650 |
HP:0001336 | HP:0031986 | Polyminimyoclonus | 1 | TAF1 CL E G H | 6872 | 314250 | Dystonia 3, torsion, X-linked | 314250 | C1839130 | OMIM | 1 | | 534 | 11535 | 313650 |
HP:0001336 | HP:0040148 | Cortical myoclonus | 1 | TAF1 CL E G H | 6872 | 314250 | Dystonia 3, torsion, X-linked | 314250 | C1839130 | OMIM | 1 | | 534 | 11535 | 313650 |
HP:0001336 | HP:0045084 | Limb myoclonus | 1 | TAF1 CL E G H | 6872 | 314250 | Dystonia 3, torsion, X-linked | 314250 | C1839130 | OMIM | 1 | | 534 | 11535 | 313650 |
HP:0001336 | HP:0010530 | Palatal myoclonus | 1 | TAF1 CL E G H | 6872 | 314250 | Dystonia 3, torsion, X-linked | 314250 | C1839130 | OMIM | 1 | | 534 | 11535 | 313650 |
HP:0001336 | HP:0012462 | Chin myoclonus | 1 | TAF1 CL E G H | 6872 | 314250 | Dystonia 3, torsion, X-linked | 314250 | C1839130 | OMIM | 1 | | 534 | 11535 | 313650 |
HP:0001336 | HP:0025097 | Eyelid myoclonus | 1 | TAF1 CL E G H | 6872 | 314250 | Dystonia 3, torsion, X-linked | 314250 | C1839130 | OMIM | 1 | | 534 | 11535 | 313650 |
HP:0001336 | HP:0010531 | Spinal myoclonus | 1 | TAF1 CL E G H | 6872 | 314250 | Dystonia 3, torsion, X-linked | 314250 | C1839130 | OMIM | 1 | | 534 | 11535 | 313650 |
HP:0001336 | HP:0025357 | Erratic myoclonus | 1 | TAF1 CL E G H | 6872 | 314250 | Dystonia 3, torsion, X-linked | 314250 | C1839130 | OMIM | 1 | | 534 | 11535 | 313650 |
HP:0001336 | HP:0003739 | Myoclonic spasms | 1 | TAF1 CL E G H | 6872 | 314250 | Dystonia 3, torsion, X-linked | 314250 | C1839130 | OMIM | 1 | | 534 | 11535 | 313650 |
HP:0001336 | HP:0012323 | Sleep myoclonus | 1 | TAF1 CL E G H | 6872 | 314250 | Dystonia 3, torsion, X-linked | 314250 | C1839130 | OMIM | 1 | | 534 | 11535 | 313650 |
HP:0001336 | HP:0031986 | Polyminimyoclonus | 1 | TBC1D24 CL E G H | 57465 | 352582 | | | | ORPHA | 1 | | 893 | 29203 | 613577 |
HP:0001336 | HP:0012462 | Chin myoclonus | 1 | TBC1D24 CL E G H | 57465 | 352596 | | | | ORPHA | 1 | | 893 | 29203 | 613577 |
HP:0001336 | HP:0025097 | Eyelid myoclonus | 1 | TBC1D24 CL E G H | 57465 | 352596 | | | | ORPHA | 1 | | 893 | 29203 | 613577 |
HP:0001336 | HP:0007000 | Morning myoclonic jerks | 1 | TBC1D24 CL E G H | 57465 | 352582 | | | | ORPHA | 1 | | 893 | 29203 | 613577 |
HP:0001336 | HP:0010531 | Spinal myoclonus | 1 | TBC1D24 CL E G H | 57465 | 352596 | | | | ORPHA | 1 | | 893 | 29203 | 613577 |
HP:0001336 | HP:0010530 | Palatal myoclonus | 1 | TBC1D24 CL E G H | 57465 | 352582 | | | | ORPHA | 1 | | 893 | 29203 | 613577 |
HP:0001336 | HP:0025357 | Erratic myoclonus | 1 | TBC1D24 CL E G H | 57465 | 352596 | | | | ORPHA | 1 | | 893 | 29203 | 613577 |
HP:0001336 | HP:0040148 | Cortical myoclonus | 1 | TBC1D24 CL E G H | 57465 | 352582 | | | | ORPHA | 1 | | 893 | 29203 | 613577 |
HP:0001336 | HP:0003739 | Myoclonic spasms | 1 | TBC1D24 CL E G H | 57465 | 352596 | | | | ORPHA | 1 | | 893 | 29203 | 613577 |
HP:0001336 | HP:0045084 | Limb myoclonus | 1 | TBC1D24 CL E G H | 57465 | 352582 | | | | ORPHA | 1 | | 893 | 29203 | 613577 |
HP:0001336 | HP:0012323 | Sleep myoclonus | 1 | TBC1D24 CL E G H | 57465 | 352596 | | | | ORPHA | 1 | | 893 | 29203 | 613577 |
HP:0001336 | HP:0010531 | Spinal myoclonus | 1 | TBC1D24 CL E G H | 57465 | 352582 | | | | ORPHA | 1 | | 893 | 29203 | 613577 |
HP:0001336 | HP:0012462 | Chin myoclonus | 1 | TBC1D24 CL E G H | 57465 | 352582 | | | | ORPHA | 1 | | 893 | 29203 | 613577 |
HP:0001336 | HP:0007000 | Morning myoclonic jerks | 1 | TBC1D24 CL E G H | 57465 | 352596 | | | | ORPHA | 1 | | 893 | 29203 | 613577 |
HP:0001336 | HP:0025097 | Eyelid myoclonus | 1 | TBC1D24 CL E G H | 57465 | 352582 | | | | ORPHA | 1 | | 893 | 29203 | 613577 |
HP:0001336 | HP:0031986 | Polyminimyoclonus | 1 | TBC1D24 CL E G H | 57465 | 352596 | | | | ORPHA | 1 | | 893 | 29203 | 613577 |
HP:0001336 | HP:0012323 | Sleep myoclonus | 1 | TBC1D24 CL E G H | 57465 | 352582 | | | | ORPHA | 1 | | 893 | 29203 | 613577 |
HP:0001336 | HP:0040148 | Cortical myoclonus | 1 | TBC1D24 CL E G H | 57465 | 352596 | | | | ORPHA | 1 | | 893 | 29203 | 613577 |
HP:0001336 | HP:0045084 | Limb myoclonus | 1 | TBC1D24 CL E G H | 57465 | 352596 | | | | ORPHA | 1 | | 893 | 29203 | 613577 |
HP:0001336 | HP:0025357 | Erratic myoclonus | 1 | TBC1D24 CL E G H | 57465 | 352582 | | | | ORPHA | 1 | | 893 | 29203 | 613577 |
HP:0001336 | HP:0010530 | Palatal myoclonus | 1 | TBC1D24 CL E G H | 57465 | 352596 | | | | ORPHA | 1 | | 893 | 29203 | 613577 |
HP:0001336 | HP:0003739 | Myoclonic spasms | 1 | TBC1D24 CL E G H | 57465 | 352582 | | | | ORPHA | 1 | | 893 | 29203 | 613577 |
HP:0001336 | HP:0031986 | Polyminimyoclonus | 1 | TBC1D24 CL E G H | 57465 | 615338 | Early infantile epileptic encephalopathy 16 | 615338 | C3809173 | OMIM | 1 | | 893 | 29203 | 613577 |
HP:0001336 | HP:0007000 | Morning myoclonic jerks | 1 | TBC1D24 CL E G H | 57465 | 615338 | Early infantile epileptic encephalopathy 16 | 615338 | C3809173 | OMIM | 1 | | 893 | 29203 | 613577 |
HP:0001336 | HP:0010530 | Palatal myoclonus | 1 | TBC1D24 CL E G H | 57465 | 615338 | Early infantile epileptic encephalopathy 16 | 615338 | C3809173 | OMIM | 1 | | 893 | 29203 | 613577 |
HP:0001336 | HP:0040148 | Cortical myoclonus | 1 | TBC1D24 CL E G H | 57465 | 615338 | Early infantile epileptic encephalopathy 16 | 615338 | C3809173 | OMIM | 1 | | 893 | 29203 | 613577 |
HP:0001336 | HP:0045084 | Limb myoclonus | 1 | TBC1D24 CL E G H | 57465 | 615338 | Early infantile epileptic encephalopathy 16 | 615338 | C3809173 | OMIM | 1 | | 893 | 29203 | 613577 |
HP:0001336 | HP:0010531 | Spinal myoclonus | 1 | TBC1D24 CL E G H | 57465 | 615338 | Early infantile epileptic encephalopathy 16 | 615338 | C3809173 | OMIM | 1 | | 893 | 29203 | 613577 |
HP:0001336 | HP:0012462 | Chin myoclonus | 1 | TBC1D24 CL E G H | 57465 | 615338 | Early infantile epileptic encephalopathy 16 | 615338 | C3809173 | OMIM | 1 | | 893 | 29203 | 613577 |
HP:0001336 | HP:0025097 | Eyelid myoclonus | 1 | TBC1D24 CL E G H | 57465 | 615338 | Early infantile epileptic encephalopathy 16 | 615338 | C3809173 | OMIM | 1 | | 893 | 29203 | 613577 |
HP:0001336 | HP:0012323 | Sleep myoclonus | 1 | TBC1D24 CL E G H | 57465 | 615338 | Early infantile epileptic encephalopathy 16 | 615338 | C3809173 | OMIM | 1 | | 893 | 29203 | 613577 |
HP:0001336 | HP:0025357 | Erratic myoclonus | 1 | TBC1D24 CL E G H | 57465 | 615338 | Early infantile epileptic encephalopathy 16 | 615338 | C3809173 | OMIM | 1 | | 893 | 29203 | 613577 |
HP:0001336 | HP:0003739 | Myoclonic spasms | 1 | TBC1D24 CL E G H | 57465 | 615338 | Early infantile epileptic encephalopathy 16 | 615338 | C3809173 | OMIM | 1 | | 893 | 29203 | 613577 |
HP:0001336 | HP:0012462 | Chin myoclonus | 1 | TBP CL E G H | 6908 | 607136 | Spinocerebellar ataxia 17 | 607136 | C1846707 | OMIM | 1 | | 131 | 11588 | 600075 |
HP:0001336 | HP:0025097 | Eyelid myoclonus | 1 | TBP CL E G H | 6908 | 607136 | Spinocerebellar ataxia 17 | 607136 | C1846707 | OMIM | 1 | | 131 | 11588 | 600075 |
HP:0001336 | HP:0010531 | Spinal myoclonus | 1 | TBP CL E G H | 6908 | 607136 | Spinocerebellar ataxia 17 | 607136 | C1846707 | OMIM | 1 | | 131 | 11588 | 600075 |
HP:0001336 | HP:0025357 | Erratic myoclonus | 1 | TBP CL E G H | 6908 | 607136 | Spinocerebellar ataxia 17 | 607136 | C1846707 | OMIM | 1 | | 131 | 11588 | 600075 |
HP:0001336 | HP:0003739 | Myoclonic spasms | 1 | TBP CL E G H | 6908 | 607136 | Spinocerebellar ataxia 17 | 607136 | C1846707 | OMIM | 1 | | 131 | 11588 | 600075 |
HP:0001336 | HP:0012323 | Sleep myoclonus | 1 | TBP CL E G H | 6908 | 607136 | Spinocerebellar ataxia 17 | 607136 | C1846707 | OMIM | 1 | | 131 | 11588 | 600075 |
HP:0001336 | HP:0007000 | Morning myoclonic jerks | 1 | TBP CL E G H | 6908 | 607136 | Spinocerebellar ataxia 17 | 607136 | C1846707 | OMIM | 1 | | 131 | 11588 | 600075 |
HP:0001336 | HP:0031986 | Polyminimyoclonus | 1 | TBP CL E G H | 6908 | 607136 | Spinocerebellar ataxia 17 | 607136 | C1846707 | OMIM | 1 | | 131 | 11588 | 600075 |
HP:0001336 | HP:0040148 | Cortical myoclonus | 1 | TBP CL E G H | 6908 | 607136 | Spinocerebellar ataxia 17 | 607136 | C1846707 | OMIM | 1 | | 131 | 11588 | 600075 |
HP:0001336 | HP:0045084 | Limb myoclonus | 1 | TBP CL E G H | 6908 | 607136 | Spinocerebellar ataxia 17 | 607136 | C1846707 | OMIM | 1 | | 131 | 11588 | 600075 |
HP:0001336 | HP:0010530 | Palatal myoclonus | 1 | TBP CL E G H | 6908 | 607136 | Spinocerebellar ataxia 17 | 607136 | C1846707 | OMIM | 1 | | 131 | 11588 | 600075 |
HP:0001336 | HP:0007000 | Morning myoclonic jerks | 1 | TH CL E G H | 7054 | 101150 | | | | ORPHA | 1 | | 967 | 11782 | 191290 |
HP:0001336 | HP:0031986 | Polyminimyoclonus | 1 | TH CL E G H | 7054 | 101150 | | | | ORPHA | 1 | | 967 | 11782 | 191290 |
HP:0001336 | HP:0040148 | Cortical myoclonus | 1 | TH CL E G H | 7054 | 101150 | | | | ORPHA | 1 | | 967 | 11782 | 191290 |
HP:0001336 | HP:0045084 | Limb myoclonus | 1 | TH CL E G H | 7054 | 101150 | | | | ORPHA | 1 | | 967 | 11782 | 191290 |
HP:0001336 | HP:0010530 | Palatal myoclonus | 1 | TH CL E G H | 7054 | 101150 | | | | ORPHA | 1 | | 967 | 11782 | 191290 |
HP:0001336 | HP:0025097 | Eyelid myoclonus | 1 | TH CL E G H | 7054 | 101150 | | | | ORPHA | 1 | | 967 | 11782 | 191290 |
HP:0001336 | HP:0010531 | Spinal myoclonus | 1 | TH CL E G H | 7054 | 101150 | | | | ORPHA | 1 | | 967 | 11782 | 191290 |
HP:0001336 | HP:0012462 | Chin myoclonus | 1 | TH CL E G H | 7054 | 101150 | | | | ORPHA | 1 | | 967 | 11782 | 191290 |
HP:0001336 | HP:0025357 | Erratic myoclonus | 1 | TH CL E G H | 7054 | 101150 | | | | ORPHA | 1 | | 967 | 11782 | 191290 |
HP:0001336 | HP:0003739 | Myoclonic spasms | 1 | TH CL E G H | 7054 | 101150 | | | | ORPHA | 1 | | 967 | 11782 | 191290 |
HP:0001336 | HP:0012323 | Sleep myoclonus | 1 | TH CL E G H | 7054 | 101150 | | | | ORPHA | 1 | | 967 | 11782 | 191290 |
HP:0001336 | HP:0007000 | Morning myoclonic jerks | 1 | TMEM231 CL E G H | 79583 | 2752 | | | | ORPHA | 1 | | 463 | 37234 | 614949 |
HP:0001336 | HP:0031986 | Polyminimyoclonus | 1 | TMEM231 CL E G H | 79583 | 2752 | | | | ORPHA | 1 | | 463 | 37234 | 614949 |
HP:0001336 | HP:0045084 | Limb myoclonus | 1 | TMEM231 CL E G H | 79583 | 2752 | | | | ORPHA | 1 | | 463 | 37234 | 614949 |
HP:0001336 | HP:0010530 | Palatal myoclonus | 1 | TMEM231 CL E G H | 79583 | 2752 | | | | ORPHA | 1 | | 463 | 37234 | 614949 |
HP:0001336 | HP:0040148 | Cortical myoclonus | 1 | TMEM231 CL E G H | 79583 | 2752 | | | | ORPHA | 1 | | 463 | 37234 | 614949 |
HP:0001336 | HP:0025097 | Eyelid myoclonus | 1 | TMEM231 CL E G H | 79583 | 2752 | | | | ORPHA | 1 | | 463 | 37234 | 614949 |
HP:0001336 | HP:0010531 | Spinal myoclonus | 1 | TMEM231 CL E G H | 79583 | 2752 | | | | ORPHA | 1 | | 463 | 37234 | 614949 |
HP:0001336 | HP:0012462 | Chin myoclonus | 1 | TMEM231 CL E G H | 79583 | 2752 | | | | ORPHA | 1 | | 463 | 37234 | 614949 |
HP:0001336 | HP:0025357 | Erratic myoclonus | 1 | TMEM231 CL E G H | 79583 | 2752 | | | | ORPHA | 1 | | 463 | 37234 | 614949 |
HP:0001336 | HP:0003739 | Myoclonic spasms | 1 | TMEM231 CL E G H | 79583 | 2752 | | | | ORPHA | 1 | | 463 | 37234 | 614949 |
HP:0001336 | HP:0012323 | Sleep myoclonus | 1 | TMEM231 CL E G H | 79583 | 2752 | | | | ORPHA | 1 | | 463 | 37234 | 614949 |
HP:0001336 | HP:0007000 | Morning myoclonic jerks | 1 | TOE1 CL E G H | 114034 | 614969 | Pontocerebellar hypoplasia, type 7 | 614969 | C3554226 | OMIM | 1 | | 272 | 15954 | 613931 |
HP:0001336 | HP:0031986 | Polyminimyoclonus | 1 | TOE1 CL E G H | 114034 | 614969 | Pontocerebellar hypoplasia, type 7 | 614969 | C3554226 | OMIM | 1 | | 272 | 15954 | 613931 |
HP:0001336 | HP:0040148 | Cortical myoclonus | 1 | TOE1 CL E G H | 114034 | 614969 | Pontocerebellar hypoplasia, type 7 | 614969 | C3554226 | OMIM | 1 | | 272 | 15954 | 613931 |
HP:0001336 | HP:0045084 | Limb myoclonus | 1 | TOE1 CL E G H | 114034 | 614969 | Pontocerebellar hypoplasia, type 7 | 614969 | C3554226 | OMIM | 1 | | 272 | 15954 | 613931 |
HP:0001336 | HP:0010530 | Palatal myoclonus | 1 | TOE1 CL E G H | 114034 | 614969 | Pontocerebellar hypoplasia, type 7 | 614969 | C3554226 | OMIM | 1 | | 272 | 15954 | 613931 |
HP:0001336 | HP:0012462 | Chin myoclonus | 1 | TOE1 CL E G H | 114034 | 614969 | Pontocerebellar hypoplasia, type 7 | 614969 | C3554226 | OMIM | 1 | | 272 | 15954 | 613931 |
HP:0001336 | HP:0025097 | Eyelid myoclonus | 1 | TOE1 CL E G H | 114034 | 614969 | Pontocerebellar hypoplasia, type 7 | 614969 | C3554226 | OMIM | 1 | | 272 | 15954 | 613931 |
HP:0001336 | HP:0010531 | Spinal myoclonus | 1 | TOE1 CL E G H | 114034 | 614969 | Pontocerebellar hypoplasia, type 7 | 614969 | C3554226 | OMIM | 1 | | 272 | 15954 | 613931 |
HP:0001336 | HP:0025357 | Erratic myoclonus | 1 | TOE1 CL E G H | 114034 | 614969 | Pontocerebellar hypoplasia, type 7 | 614969 | C3554226 | OMIM | 1 | | 272 | 15954 | 613931 |
HP:0001336 | HP:0003739 | Myoclonic spasms | 1 | TOE1 CL E G H | 114034 | 614969 | Pontocerebellar hypoplasia, type 7 | 614969 | C3554226 | OMIM | 1 | | 272 | 15954 | 613931 |
HP:0001336 | HP:0012323 | Sleep myoclonus | 1 | TOE1 CL E G H | 114034 | 614969 | Pontocerebellar hypoplasia, type 7 | 614969 | C3554226 | OMIM | 1 | | 272 | 15954 | 613931 |
HP:0001336 | HP:0045084 | Limb myoclonus | 1 | TOMM40 CL E G H | 10452 | 1020 | | | | ORPHA | 1 | | 29 | 18001 | 608061 |
HP:0001336 | HP:0010530 | Palatal myoclonus | 1 | TOMM40 CL E G H | 10452 | 1020 | | | | ORPHA | 1 | | 29 | 18001 | 608061 |
HP:0001336 | HP:0040148 | Cortical myoclonus | 1 | TOMM40 CL E G H | 10452 | 1020 | | | | ORPHA | 1 | | 29 | 18001 | 608061 |
HP:0001336 | HP:0025097 | Eyelid myoclonus | 1 | TOMM40 CL E G H | 10452 | 1020 | | | | ORPHA | 1 | | 29 | 18001 | 608061 |
HP:0001336 | HP:0010531 | Spinal myoclonus | 1 | TOMM40 CL E G H | 10452 | 1020 | | | | ORPHA | 1 | | 29 | 18001 | 608061 |
HP:0001336 | HP:0012462 | Chin myoclonus | 1 | TOMM40 CL E G H | 10452 | 1020 | | | | ORPHA | 1 | | 29 | 18001 | 608061 |
HP:0001336 | HP:0025357 | Erratic myoclonus | 1 | TOMM40 CL E G H | 10452 | 1020 | | | | ORPHA | 1 | | 29 | 18001 | 608061 |
HP:0001336 | HP:0003739 | Myoclonic spasms | 1 | TOMM40 CL E G H | 10452 | 1020 | | | | ORPHA | 1 | | 29 | 18001 | 608061 |
HP:0001336 | HP:0012323 | Sleep myoclonus | 1 | TOMM40 CL E G H | 10452 | 1020 | | | | ORPHA | 1 | | 29 | 18001 | 608061 |
HP:0001336 | HP:0007000 | Morning myoclonic jerks | 1 | TOMM40 CL E G H | 10452 | 1020 | | | | ORPHA | 1 | | 29 | 18001 | 608061 |
HP:0001336 | HP:0031986 | Polyminimyoclonus | 1 | TOMM40 CL E G H | 10452 | 1020 | | | | ORPHA | 1 | | 29 | 18001 | 608061 |
HP:0001336 | HP:0012462 | Chin myoclonus | 1 | TPP1 CL E G H | 1200 | 204500 | Ceroid lipofuscinosis neuronal 2 | 204500 | C1876161 | OMIM | 1 | | 1023 | 2073 | 607998 |
HP:0001336 | HP:0025097 | Eyelid myoclonus | 1 | TPP1 CL E G H | 1200 | 204500 | Ceroid lipofuscinosis neuronal 2 | 204500 | C1876161 | OMIM | 1 | | 1023 | 2073 | 607998 |
HP:0001336 | HP:0010531 | Spinal myoclonus | 1 | TPP1 CL E G H | 1200 | 204500 | Ceroid lipofuscinosis neuronal 2 | 204500 | C1876161 | OMIM | 1 | | 1023 | 2073 | 607998 |
HP:0001336 | HP:0025357 | Erratic myoclonus | 1 | TPP1 CL E G H | 1200 | 204500 | Ceroid lipofuscinosis neuronal 2 | 204500 | C1876161 | OMIM | 1 | | 1023 | 2073 | 607998 |
HP:0001336 | HP:0003739 | Myoclonic spasms | 1 | TPP1 CL E G H | 1200 | 204500 | Ceroid lipofuscinosis neuronal 2 | 204500 | C1876161 | OMIM | 1 | | 1023 | 2073 | 607998 |
HP:0001336 | HP:0012323 | Sleep myoclonus | 1 | TPP1 CL E G H | 1200 | 204500 | Ceroid lipofuscinosis neuronal 2 | 204500 | C1876161 | OMIM | 1 | | 1023 | 2073 | 607998 |
HP:0001336 | HP:0007000 | Morning myoclonic jerks | 1 | TPP1 CL E G H | 1200 | 204500 | Ceroid lipofuscinosis neuronal 2 | 204500 | C1876161 | OMIM | 1 | | 1023 | 2073 | 607998 |
HP:0001336 | HP:0031986 | Polyminimyoclonus | 1 | TPP1 CL E G H | 1200 | 204500 | Ceroid lipofuscinosis neuronal 2 | 204500 | C1876161 | OMIM | 1 | | 1023 | 2073 | 607998 |
HP:0001336 | HP:0040148 | Cortical myoclonus | 1 | TPP1 CL E G H | 1200 | 204500 | Ceroid lipofuscinosis neuronal 2 | 204500 | C1876161 | OMIM | 1 | | 1023 | 2073 | 607998 |
HP:0001336 | HP:0045084 | Limb myoclonus | 1 | TPP1 CL E G H | 1200 | 204500 | Ceroid lipofuscinosis neuronal 2 | 204500 | C1876161 | OMIM | 1 | | 1023 | 2073 | 607998 |
HP:0001336 | HP:0010530 | Palatal myoclonus | 1 | TPP1 CL E G H | 1200 | 204500 | Ceroid lipofuscinosis neuronal 2 | 204500 | C1876161 | OMIM | 1 | | 1023 | 2073 | 607998 |
HP:0001336 | HP:0045084 | Limb myoclonus | 1 | TRAK1 CL E G H | 22906 | 618201 | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 68 | 618201 | | OMIM | 1 | | 208 | 29947 | 608112 |
HP:0001336 | HP:0010530 | Palatal myoclonus | 1 | TRAK1 CL E G H | 22906 | 618201 | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 68 | 618201 | | OMIM | 1 | | 208 | 29947 | 608112 |
HP:0001336 | HP:0040148 | Cortical myoclonus | 1 | TRAK1 CL E G H | 22906 | 618201 | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 68 | 618201 | | OMIM | 1 | | 208 | 29947 | 608112 |
HP:0001336 | HP:0025097 | Eyelid myoclonus | 1 | TRAK1 CL E G H | 22906 | 618201 | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 68 | 618201 | | OMIM | 1 | | 208 | 29947 | 608112 |
HP:0001336 | HP:0010531 | Spinal myoclonus | 1 | TRAK1 CL E G H | 22906 | 618201 | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 68 | 618201 | | OMIM | 1 | | 208 | 29947 | 608112 |
HP:0001336 | HP:0012462 | Chin myoclonus | 1 | TRAK1 CL E G H | 22906 | 618201 | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 68 | 618201 | | OMIM | 1 | | 208 | 29947 | 608112 |
HP:0001336 | HP:0003739 | Myoclonic spasms | 1 | TRAK1 CL E G H | 22906 | 618201 | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 68 | 618201 | | OMIM | 1 | | 208 | 29947 | 608112 |
HP:0001336 | HP:0012323 | Sleep myoclonus | 1 | TRAK1 CL E G H | 22906 | 618201 | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 68 | 618201 | | OMIM | 1 | | 208 | 29947 | 608112 |
HP:0001336 | HP:0025357 | Erratic myoclonus | 1 | TRAK1 CL E G H | 22906 | 618201 | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 68 | 618201 | | OMIM | 1 | | 208 | 29947 | 608112 |
HP:0001336 | HP:0007000 | Morning myoclonic jerks | 1 | TRAK1 CL E G H | 22906 | 618201 | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 68 | 618201 | | OMIM | 1 | | 208 | 29947 | 608112 |
HP:0001336 | HP:0031986 | Polyminimyoclonus | 1 | TRAK1 CL E G H | 22906 | 618201 | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 68 | 618201 | | OMIM | 1 | | 208 | 29947 | 608112 |
HP:0001336 | HP:0012323 | Sleep myoclonus | 1 | TRAPPC12 CL E G H | 51112 | 617669 | ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND SPASTICITY | 617669 | C4540059 | OMIM | 1 | | 202 | 24284 | 614139 |
HP:0001336 | HP:0025357 | Erratic myoclonus | 1 | TRAPPC12 CL E G H | 51112 | 617669 | ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND SPASTICITY | 617669 | C4540059 | OMIM | 1 | | 202 | 24284 | 614139 |
HP:0001336 | HP:0003739 | Myoclonic spasms | 1 | TRAPPC12 CL E G H | 51112 | 617669 | ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND SPASTICITY | 617669 | C4540059 | OMIM | 1 | | 202 | 24284 | 614139 |
HP:0001336 | HP:0031986 | Polyminimyoclonus | 1 | TRAPPC12 CL E G H | 51112 | 617669 | ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND SPASTICITY | 617669 | C4540059 | OMIM | 1 | | 202 | 24284 | 614139 |
HP:0001336 | HP:0007000 | Morning myoclonic jerks | 1 | TRAPPC12 CL E G H | 51112 | 617669 | ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND SPASTICITY | 617669 | C4540059 | OMIM | 1 | | 202 | 24284 | 614139 |
HP:0001336 | HP:0010530 | Palatal myoclonus | 1 | TRAPPC12 CL E G H | 51112 | 617669 | ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND SPASTICITY | 617669 | C4540059 | OMIM | 1 | | 202 | 24284 | 614139 |
HP:0001336 | HP:0040148 | Cortical myoclonus | 1 | TRAPPC12 CL E G H | 51112 | 617669 | ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND SPASTICITY | 617669 | C4540059 | OMIM | 1 | | 202 | 24284 | 614139 |
HP:0001336 | HP:0045084 | Limb myoclonus | 1 | TRAPPC12 CL E G H | 51112 | 617669 | ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND SPASTICITY | 617669 | C4540059 | OMIM | 1 | | 202 | 24284 | 614139 |
HP:0001336 | HP:0010531 | Spinal myoclonus | 1 | TRAPPC12 CL E G H | 51112 | 617669 | ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND SPASTICITY | 617669 | C4540059 | OMIM | 1 | | 202 | 24284 | 614139 |
HP:0001336 | HP:0012462 | Chin myoclonus | 1 | TRAPPC12 CL E G H | 51112 | 617669 | ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND SPASTICITY | 617669 | C4540059 | OMIM | 1 | | 202 | 24284 | 614139 |
HP:0001336 | HP:0025097 | Eyelid myoclonus | 1 | TRAPPC12 CL E G H | 51112 | 617669 | ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND SPASTICITY | 617669 | C4540059 | OMIM | 1 | | 202 | 24284 | 614139 |
HP:0001336 | HP:0003739 | Myoclonic spasms | 1 | TREM2 CL E G H | 54209 | 1020 | | | | ORPHA | 1 | | 154 | 17761 | 605086 |
HP:0001336 | HP:0012323 | Sleep myoclonus | 1 | TREM2 CL E G H | 54209 | 1020 | | | | ORPHA | 1 | | 154 | 17761 | 605086 |
HP:0001336 | HP:0025357 | Erratic myoclonus | 1 | TREM2 CL E G H | 54209 | 1020 | | | | ORPHA | 1 | | 154 | 17761 | 605086 |
HP:0001336 | HP:0031986 | Polyminimyoclonus | 1 | TREM2 CL E G H | 54209 | 1020 | | | | ORPHA | 1 | | 154 | 17761 | 605086 |
HP:0001336 | HP:0007000 | Morning myoclonic jerks | 1 | TREM2 CL E G H | 54209 | 1020 | | | | ORPHA | 1 | | 154 | 17761 | 605086 |
HP:0001336 | HP:0010530 | Palatal myoclonus | 1 | TREM2 CL E G H | 54209 | 1020 | | | | ORPHA | 1 | | 154 | 17761 | 605086 |
HP:0001336 | HP:0040148 | Cortical myoclonus | 1 | TREM2 CL E G H | 54209 | 1020 | | | | ORPHA | 1 | | 154 | 17761 | 605086 |
HP:0001336 | HP:0045084 | Limb myoclonus | 1 | TREM2 CL E G H | 54209 | 1020 | | | | ORPHA | 1 | | 154 | 17761 | 605086 |
HP:0001336 | HP:0010531 | Spinal myoclonus | 1 | TREM2 CL E G H | 54209 | 1020 | | | | ORPHA | 1 | | 154 | 17761 | 605086 |
HP:0001336 | HP:0012462 | Chin myoclonus | 1 | TREM2 CL E G H | 54209 | 1020 | | | | ORPHA | 1 | | 154 | 17761 | 605086 |
HP:0001336 | HP:0025097 | Eyelid myoclonus | 1 | TREM2 CL E G H | 54209 | 1020 | | | | ORPHA | 1 | | 154 | 17761 | 605086 |
HP:0001336 | HP:0012462 | Chin myoclonus | 1 | TSEN54 CL E G H | 283989 | 225753 | Pontocerebellar hypoplasia type 4 | 225753 | C1856974 | OMIM | 1 | | 414 | 27561 | 608755 |
HP:0001336 | HP:0025097 | Eyelid myoclonus | 1 | TSEN54 CL E G H | 283989 | 225753 | Pontocerebellar hypoplasia type 4 | 225753 | C1856974 | OMIM | 1 | | 414 | 27561 | 608755 |
HP:0001336 | HP:0010531 | Spinal myoclonus | 1 | TSEN54 CL E G H | 283989 | 225753 | Pontocerebellar hypoplasia type 4 | 225753 | C1856974 | OMIM | 1 | | 414 | 27561 | 608755 |
HP:0001336 | HP:0025357 | Erratic myoclonus | 1 | TSEN54 CL E G H | 283989 | 225753 | Pontocerebellar hypoplasia type 4 | 225753 | C1856974 | OMIM | 1 | | 414 | 27561 | 608755 |
HP:0001336 | HP:0003739 | Myoclonic spasms | 1 | TSEN54 CL E G H | 283989 | 225753 | Pontocerebellar hypoplasia type 4 | 225753 | C1856974 | OMIM | 1 | | 414 | 27561 | 608755 |
HP:0001336 | HP:0012323 | Sleep myoclonus | 1 | TSEN54 CL E G H | 283989 | 225753 | Pontocerebellar hypoplasia type 4 | 225753 | C1856974 | OMIM | 1 | | 414 | 27561 | 608755 |
HP:0001336 | HP:0007000 | Morning myoclonic jerks | 1 | TSEN54 CL E G H | 283989 | 225753 | Pontocerebellar hypoplasia type 4 | 225753 | C1856974 | OMIM | 1 | | 414 | 27561 | 608755 |
HP:0001336 | HP:0031986 | Polyminimyoclonus | 1 | TSEN54 CL E G H | 283989 | 225753 | Pontocerebellar hypoplasia type 4 | 225753 | C1856974 | OMIM | 1 | | 414 | 27561 | 608755 |
HP:0001336 | HP:0040148 | Cortical myoclonus | 1 | TSEN54 CL E G H | 283989 | 225753 | Pontocerebellar hypoplasia type 4 | 225753 | C1856974 | OMIM | 1 | | 414 | 27561 | 608755 |
HP:0001336 | HP:0045084 | Limb myoclonus | 1 | TSEN54 CL E G H | 283989 | 225753 | Pontocerebellar hypoplasia type 4 | 225753 | C1856974 | OMIM | 1 | | 414 | 27561 | 608755 |
HP:0001336 | HP:0010530 | Palatal myoclonus | 1 | TSEN54 CL E G H | 283989 | 225753 | Pontocerebellar hypoplasia type 4 | 225753 | C1856974 | OMIM | 1 | | 414 | 27561 | 608755 |
HP:0001336 | HP:0012462 | Chin myoclonus | 1 | TSPYL1 CL E G H | 7259 | 168593 | | | | ORPHA | 1 | | 72 | 12382 | 604714 |
HP:0001336 | HP:0025097 | Eyelid myoclonus | 1 | TSPYL1 CL E G H | 7259 | 168593 | | | | ORPHA | 1 | | 72 | 12382 | 604714 |
HP:0001336 | HP:0010531 | Spinal myoclonus | 1 | TSPYL1 CL E G H | 7259 | 168593 | | | | ORPHA | 1 | | 72 | 12382 | 604714 |
HP:0001336 | HP:0025357 | Erratic myoclonus | 1 | TSPYL1 CL E G H | 7259 | 168593 | | | | ORPHA | 1 | | 72 | 12382 | 604714 |
HP:0001336 | HP:0003739 | Myoclonic spasms | 1 | TSPYL1 CL E G H | 7259 | 168593 | | | | ORPHA | 1 | | 72 | 12382 | 604714 |
HP:0001336 | HP:0012323 | Sleep myoclonus | 1 | TSPYL1 CL E G H | 7259 | 168593 | | | | ORPHA | 1 | | 72 | 12382 | 604714 |
HP:0001336 | HP:0007000 | Morning myoclonic jerks | 1 | TSPYL1 CL E G H | 7259 | 168593 | | | | ORPHA | 1 | | 72 | 12382 | 604714 |
HP:0001336 | HP:0031986 | Polyminimyoclonus | 1 | TSPYL1 CL E G H | 7259 | 168593 | | | | ORPHA | 1 | | 72 | 12382 | 604714 |
HP:0001336 | HP:0040148 | Cortical myoclonus | 1 | TSPYL1 CL E G H | 7259 | 168593 | | | | ORPHA | 1 | | 72 | 12382 | 604714 |
HP:0001336 | HP:0045084 | Limb myoclonus | 1 | TSPYL1 CL E G H | 7259 | 168593 | | | | ORPHA | 1 | | 72 | 12382 | 604714 |
HP:0001336 | HP:0010530 | Palatal myoclonus | 1 | TSPYL1 CL E G H | 7259 | 168593 | | | | ORPHA | 1 | | 72 | 12382 | 604714 |
HP:0001336 | HP:0012462 | Chin myoclonus | 1 | TWNK CL E G H | 56652 | 70595 | | | | ORPHA | 1 | | 450 | 1160 | 606075 |
HP:0001336 | HP:0025097 | Eyelid myoclonus | 1 | TWNK CL E G H | 56652 | 70595 | | | | ORPHA | 1 | | 450 | 1160 | 606075 |
HP:0001336 | HP:0010531 | Spinal myoclonus | 1 | TWNK CL E G H | 56652 | 70595 | | | | ORPHA | 1 | | 450 | 1160 | 606075 |
HP:0001336 | HP:0025357 | Erratic myoclonus | 1 | TWNK CL E G H | 56652 | 70595 | | | | ORPHA | 1 | | 450 | 1160 | 606075 |
HP:0001336 | HP:0003739 | Myoclonic spasms | 1 | TWNK CL E G H | 56652 | 70595 | | | | ORPHA | 1 | | 450 | 1160 | 606075 |
HP:0001336 | HP:0012323 | Sleep myoclonus | 1 | TWNK CL E G H | 56652 | 70595 | | | | ORPHA | 1 | | 450 | 1160 | 606075 |
HP:0001336 | HP:0007000 | Morning myoclonic jerks | 1 | TWNK CL E G H | 56652 | 70595 | | | | ORPHA | 1 | | 450 | 1160 | 606075 |
HP:0001336 | HP:0031986 | Polyminimyoclonus | 1 | TWNK CL E G H | 56652 | 70595 | | | | ORPHA | 1 | | 450 | 1160 | 606075 |
HP:0001336 | HP:0040148 | Cortical myoclonus | 1 | TWNK CL E G H | 56652 | 70595 | | | | ORPHA | 1 | | 450 | 1160 | 606075 |
HP:0001336 | HP:0045084 | Limb myoclonus | 1 | TWNK CL E G H | 56652 | 70595 | | | | ORPHA | 1 | | 450 | 1160 | 606075 |
HP:0001336 | HP:0010530 | Palatal myoclonus | 1 | TWNK CL E G H | 56652 | 70595 | | | | ORPHA | 1 | | 450 | 1160 | 606075 |
HP:0001336 | HP:0012462 | Chin myoclonus | 1 | TWNK CL E G H | 56652 | 607459 | Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis | 607459 | C1843851 | OMIM | 1 | | 450 | 1160 | 606075 |
HP:0001336 | HP:0025097 | Eyelid myoclonus | 1 | TWNK CL E G H | 56652 | 607459 | Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis | 607459 | C1843851 | OMIM | 1 | | 450 | 1160 | 606075 |
HP:0001336 | HP:0010531 | Spinal myoclonus | 1 | TWNK CL E G H | 56652 | 607459 | Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis | 607459 | C1843851 | OMIM | 1 | | 450 | 1160 | 606075 |
HP:0001336 | HP:0025357 | Erratic myoclonus | 1 | TWNK CL E G H | 56652 | 607459 | Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis | 607459 | C1843851 | OMIM | 1 | | 450 | 1160 | 606075 |
HP:0001336 | HP:0003739 | Myoclonic spasms | 1 | TWNK CL E G H | 56652 | 607459 | Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis | 607459 | C1843851 | OMIM | 1 | | 450 | 1160 | 606075 |
HP:0001336 | HP:0012323 | Sleep myoclonus | 1 | TWNK CL E G H | 56652 | 607459 | Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis | 607459 | C1843851 | OMIM | 1 | | 450 | 1160 | 606075 |
HP:0001336 | HP:0007000 | Morning myoclonic jerks | 1 | TWNK CL E G H | 56652 | 607459 | Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis | 607459 | C1843851 | OMIM | 1 | | 450 | 1160 | 606075 |
HP:0001336 | HP:0031986 | Polyminimyoclonus | 1 | TWNK CL E G H | 56652 | 607459 | Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis | 607459 | C1843851 | OMIM | 1 | | 450 | 1160 | 606075 |
HP:0001336 | HP:0040148 | Cortical myoclonus | 1 | TWNK CL E G H | 56652 | 607459 | Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis | 607459 | C1843851 | OMIM | 1 | | 450 | 1160 | 606075 |
HP:0001336 | HP:0045084 | Limb myoclonus | 1 | TWNK CL E G H | 56652 | 607459 | Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis | 607459 | C1843851 | OMIM | 1 | | 450 | 1160 | 606075 |
HP:0001336 | HP:0010530 | Palatal myoclonus | 1 | TWNK CL E G H | 56652 | 607459 | Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis | 607459 | C1843851 | OMIM | 1 | | 450 | 1160 | 606075 |
HP:0001336 | HP:0031986 | Polyminimyoclonus | 1 | TYROBP CL E G H | 7305 | 221770 | Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy | 221770 | C1857316 | OMIM | 1 | | 110 | 12449 | 604142 |
HP:0001336 | HP:0007000 | Morning myoclonic jerks | 1 | TYROBP CL E G H | 7305 | 221770 | Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy | 221770 | C1857316 | OMIM | 1 | | 110 | 12449 | 604142 |
HP:0001336 | HP:0040148 | Cortical myoclonus | 1 | TYROBP CL E G H | 7305 | 221770 | Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy | 221770 | C1857316 | OMIM | 1 | | 110 | 12449 | 604142 |
HP:0001336 | HP:0045084 | Limb myoclonus | 1 | TYROBP CL E G H | 7305 | 221770 | Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy | 221770 | C1857316 | OMIM | 1 | | 110 | 12449 | 604142 |
HP:0001336 | HP:0010530 | Palatal myoclonus | 1 | TYROBP CL E G H | 7305 | 221770 | Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy | 221770 | C1857316 | OMIM | 1 | | 110 | 12449 | 604142 |
HP:0001336 | HP:0010531 | Spinal myoclonus | 1 | TYROBP CL E G H | 7305 | 221770 | Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy | 221770 | C1857316 | OMIM | 1 | | 110 | 12449 | 604142 |
HP:0001336 | HP:0012462 | Chin myoclonus | 1 | TYROBP CL E G H | 7305 | 221770 | Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy | 221770 | C1857316 | OMIM | 1 | | 110 | 12449 | 604142 |
HP:0001336 | HP:0025097 | Eyelid myoclonus | 1 | TYROBP CL E G H | 7305 | 221770 | Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy | 221770 | C1857316 | OMIM | 1 | | 110 | 12449 | 604142 |
HP:0001336 | HP:0012323 | Sleep myoclonus | 1 | TYROBP CL E G H | 7305 | 221770 | Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy | 221770 | C1857316 | OMIM | 1 | | 110 | 12449 | 604142 |
HP:0001336 | HP:0025357 | Erratic myoclonus | 1 | TYROBP CL E G H | 7305 | 221770 | Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy | 221770 | C1857316 | OMIM | 1 | | 110 | 12449 | 604142 |
HP:0001336 | HP:0003739 | Myoclonic spasms | 1 | TYROBP CL E G H | 7305 | 221770 | Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy | 221770 | C1857316 | OMIM | 1 | | 110 | 12449 | 604142 |
HP:0001336 | HP:0007000 | Morning myoclonic jerks | 1 | VPS13D CL E G H | 55187 | 607317 | Spinocerebellar ataxia autosomal recessive 4 | 607317 | C1846492 | OMIM | 1 | | 1034 | 23595 | 608877 |
HP:0001336 | HP:0031986 | Polyminimyoclonus | 1 | VPS13D CL E G H | 55187 | 607317 | Spinocerebellar ataxia autosomal recessive 4 | 607317 | C1846492 | OMIM | 1 | | 1034 | 23595 | 608877 |
HP:0001336 | HP:0045084 | Limb myoclonus | 1 | VPS13D CL E G H | 55187 | 607317 | Spinocerebellar ataxia autosomal recessive 4 | 607317 | C1846492 | OMIM | 1 | | 1034 | 23595 | 608877 |
HP:0001336 | HP:0010530 | Palatal myoclonus | 1 | VPS13D CL E G H | 55187 | 607317 | Spinocerebellar ataxia autosomal recessive 4 | 607317 | C1846492 | OMIM | 1 | | 1034 | 23595 | 608877 |
HP:0001336 | HP:0040148 | Cortical myoclonus | 1 | VPS13D CL E G H | 55187 | 607317 | Spinocerebellar ataxia autosomal recessive 4 | 607317 | C1846492 | OMIM | 1 | | 1034 | 23595 | 608877 |
HP:0001336 | HP:0025097 | Eyelid myoclonus | 1 | VPS13D CL E G H | 55187 | 607317 | Spinocerebellar ataxia autosomal recessive 4 | 607317 | C1846492 | OMIM | 1 | | 1034 | 23595 | 608877 |
HP:0001336 | HP:0010531 | Spinal myoclonus | 1 | VPS13D CL E G H | 55187 | 607317 | Spinocerebellar ataxia autosomal recessive 4 | 607317 | C1846492 | OMIM | 1 | | 1034 | 23595 | 608877 |
HP:0001336 | HP:0012462 | Chin myoclonus | 1 | VPS13D CL E G H | 55187 | 607317 | Spinocerebellar ataxia autosomal recessive 4 | 607317 | C1846492 | OMIM | 1 | | 1034 | 23595 | 608877 |
HP:0001336 | HP:0003739 | Myoclonic spasms | 1 | VPS13D CL E G H | 55187 | 607317 | Spinocerebellar ataxia autosomal recessive 4 | 607317 | C1846492 | OMIM | 1 | | 1034 | 23595 | 608877 |
HP:0001336 | HP:0012323 | Sleep myoclonus | 1 | VPS13D CL E G H | 55187 | 607317 | Spinocerebellar ataxia autosomal recessive 4 | 607317 | C1846492 | OMIM | 1 | | 1034 | 23595 | 608877 |
HP:0001336 | HP:0025357 | Erratic myoclonus | 1 | VPS13D CL E G H | 55187 | 607317 | Spinocerebellar ataxia autosomal recessive 4 | 607317 | C1846492 | OMIM | 1 | | 1034 | 23595 | 608877 |
HP:0001336 | HP:0010531 | Spinal myoclonus | 1 | ZNHIT3 CL E G H | 9326 | 260565 | PEHO syndrome | 260565 | C1850055 | OMIM | 1 | | 136 | 12309 | 604500 |
HP:0001336 | HP:0012462 | Chin myoclonus | 1 | ZNHIT3 CL E G H | 9326 | 260565 | PEHO syndrome | 260565 | C1850055 | OMIM | 1 | | 136 | 12309 | 604500 |
HP:0001336 | HP:0025097 | Eyelid myoclonus | 1 | ZNHIT3 CL E G H | 9326 | 260565 | PEHO syndrome | 260565 | C1850055 | OMIM | 1 | | 136 | 12309 | 604500 |
HP:0001336 | HP:0012323 | Sleep myoclonus | 1 | ZNHIT3 CL E G H | 9326 | 260565 | PEHO syndrome | 260565 | C1850055 | OMIM | 1 | | 136 | 12309 | 604500 |
HP:0001336 | HP:0025357 | Erratic myoclonus | 1 | ZNHIT3 CL E G H | 9326 | 260565 | PEHO syndrome | 260565 | C1850055 | OMIM | 1 | | 136 | 12309 | 604500 |
HP:0001336 | HP:0003739 | Myoclonic spasms | 1 | ZNHIT3 CL E G H | 9326 | 260565 | PEHO syndrome | 260565 | C1850055 | OMIM | 1 | | 136 | 12309 | 604500 |
HP:0001336 | HP:0031986 | Polyminimyoclonus | 1 | ZNHIT3 CL E G H | 9326 | 260565 | PEHO syndrome | 260565 | C1850055 | OMIM | 1 | | 136 | 12309 | 604500 |
HP:0001336 | HP:0007000 | Morning myoclonic jerks | 1 | ZNHIT3 CL E G H | 9326 | 260565 | PEHO syndrome | 260565 | C1850055 | OMIM | 1 | | 136 | 12309 | 604500 |
HP:0001336 | HP:0040148 | Cortical myoclonus | 1 | ZNHIT3 CL E G H | 9326 | 260565 | PEHO syndrome | 260565 | C1850055 | OMIM | 1 | | 136 | 12309 | 604500 |
HP:0001336 | HP:0045084 | Limb myoclonus | 1 | ZNHIT3 CL E G H | 9326 | 260565 | PEHO syndrome | 260565 | C1850055 | OMIM | 1 | | 136 | 12309 | 604500 |
HP:0001336 | HP:0010530 | Palatal myoclonus | 1 | ZNHIT3 CL E G H | 9326 | 260565 | PEHO syndrome | 260565 | C1850055 | OMIM | 1 | | 136 | 12309 | 604500 |
HP:0001336 | HP:0033054 | Myoclonic tremor | 2 | ABCA7 CL E G H | 10347 | 1020 | | | | ORPHA | 1 | | 269 | 37 | 605414 |
HP:0001336 | HP:0010828 | Hemifacial spasm | 2 | ABCA7 CL E G H | 10347 | 1020 | | | | ORPHA | 1 | | 269 | 37 | 605414 |
HP:0001336 | HP:0010828 | Hemifacial spasm | 2 | ADCY5 CL E G H | 111 | 324588 | | | | ORPHA | 1 | | 653 | 236 | 600293 |
HP:0001336 | HP:0033054 | Myoclonic tremor | 2 | ADCY5 CL E G H | 111 | 324588 | | | | ORPHA | 1 | | 653 | 236 | 600293 |
HP:0001336 | HP:0033054 | Myoclonic tremor | 2 | ADRA2B CL E G H | 151 | 86814 | | | | ORPHA | 1 | | 92 | 282 | 104260 |
HP:0001336 | HP:0010828 | Hemifacial spasm | 2 | ADRA2B CL E G H | 151 | 86814 | | | | ORPHA | 1 | | 92 | 282 | 104260 |
HP:0001336 | HP:0010828 | Hemifacial spasm | 2 | ADRA2B CL E G H | 151 | 607876 | Epilepsy, familial adult myoclonic 2 | 607876 | C1842852 | OMIM | 1 | | 92 | 282 | 104260 |
HP:0001336 | HP:0033054 | Myoclonic tremor | 2 | ADRA2B CL E G H | 151 | 607876 | Epilepsy, familial adult myoclonic 2 | 607876 | C1842852 | OMIM | 1 | | 92 | 282 | 104260 |
HP:0001336 | HP:0010828 | Hemifacial spasm | 2 | ADSL CL E G H | 158 | 103050 | Adenylosuccinate lyase deficiency | 103050 | C0268126 | OMIM | 1 | | 808 | 291 | 608222 |
HP:0001336 | HP:0033054 | Myoclonic tremor | 2 | ADSL CL E G H | 158 | 103050 | Adenylosuccinate lyase deficiency | 103050 | C0268126 | OMIM | 1 | | 808 | 291 | 608222 |
HP:0001336 | HP:0033054 | Myoclonic tremor | 2 | AFG3L2 CL E G H | 10939 | 313772 | | | | ORPHA | 1 | | 480 | 315 | 604581 |
HP:0001336 | HP:0010828 | Hemifacial spasm | 2 | AFG3L2 CL E G H | 10939 | 313772 | | | | ORPHA | 1 | | 480 | 315 | 604581 |
HP:0001336 | HP:0033054 | Myoclonic tremor | 2 | AFG3L2 CL E G H | 10939 | 614487 | Spastic ataxia 5, autosomal recessive | 614487 | C3280977 | OMIM | 1 | | 480 | 315 | 604581 |
HP:0001336 | HP:0010828 | Hemifacial spasm | 2 | AFG3L2 CL E G H | 10939 | 614487 | Spastic ataxia 5, autosomal recessive | 614487 | C3280977 | OMIM | 1 | | 480 | 315 | 604581 |
HP:0001336 | HP:0033054 | Myoclonic tremor | 2 | AMT CL E G H | 275 | 605899 | Non-ketotic hyperglycinemia | 605899 | C0751748 | OMIM | 1 | | 591 | 473 | 238310 |
HP:0001336 | HP:0010828 | Hemifacial spasm | 2 | AMT CL E G H | 275 | 605899 | Non-ketotic hyperglycinemia | 605899 | C0751748 | OMIM | 1 | | 591 | 473 | 238310 |
HP:0001336 | HP:0033054 | Myoclonic tremor | 2 | AP5Z1 CL E G H | 9907 | 306511 | | | | ORPHA | 1 | | 1021 | 22197 | 613653 |
HP:0001336 | HP:0010828 | Hemifacial spasm | 2 | AP5Z1 CL E G H | 9907 | 306511 | | | | ORPHA | 1 | | 1021 | 22197 | 613653 |
HP:0001336 | HP:0033054 | Myoclonic tremor | 2 | APP CL E G H | 351 | 324708 | | | | ORPHA | 1 | | 506 | 620 | 104760 |
HP:0001336 | HP:0010828 | Hemifacial spasm | 2 | APP CL E G H | 351 | 1020 | | | | ORPHA | 1 | | 506 | 620 | 104760 |
HP:0001336 | HP:0010828 | Hemifacial spasm | 2 | APP CL E G H | 351 | 324708 | | | | ORPHA | 1 | | 506 | 620 | 104760 |
HP:0001336 | HP:0033054 | Myoclonic tremor | 2 | APP CL E G H | 351 | 1020 | | | | ORPHA | 1 | | 506 | 620 | 104760 |
HP:0001336 | HP:0033054 | Myoclonic tremor | 2 | ARX CL E G H | 170302 | 3451 | Meier Blumberg Imahorn syndrome | | | ORPHA | 1 | | 810 | 18060 | 300382 |
HP:0001336 | HP:0010828 | Hemifacial spasm | 2 | ARX CL E G H | 170302 | 3451 | Meier Blumberg Imahorn syndrome | | | ORPHA | 1 | | 810 | 18060 | 300382 |
HP:0001336 | HP:0033054 | Myoclonic tremor | 2 | ASAH1 CL E G H | 427 | 159950 | Jankovic Rivera syndrome | 159950 | C1834569 | OMIM | 1 | | 913 | 735 | 613468 |
HP:0001336 | HP:0010828 | Hemifacial spasm | 2 | ASAH1 CL E G H | 427 | 159950 | Jankovic Rivera syndrome | 159950 | C1834569 | OMIM | 1 | | 913 | 735 | 613468 |
HP:0001336 | HP:0033054 | Myoclonic tremor | 2 | ATAD1 CL E G H | 84896 | 618011 | HYPEREKPLEXIA 4 | 618011 | CN248518 | OMIM | 1 | | 183 | 25903 | 614452 |
HP:0001336 | HP:0010828 | Hemifacial spasm | 2 | ATAD1 CL E G H | 84896 | 618011 | HYPEREKPLEXIA 4 | 618011 | CN248518 | OMIM | 1 | | 183 | 25903 | 614452 |
HP:0001336 | HP:0010828 | Hemifacial spasm | 2 | ATAD1 CL E G H | 84896 | 3197 | Lateral body wall defect | | | ORPHA | 1 | | 183 | 25903 | 614452 |
HP:0001336 | HP:0033054 | Myoclonic tremor | 2 | ATAD1 CL E G H | 84896 | 3197 | Lateral body wall defect | | | ORPHA | 1 | | 183 | 25903 | 614452 |
HP:0001336 | HP:0033054 | Myoclonic tremor | 2 | ATM CL E G H | 472 | 208900 | Ataxia-telangiectasia syndrome | 208900 | C0004135 | OMIM | 1 | | 14692 | 795 | 607585 |
HP:0001336 | HP:0010828 | Hemifacial spasm | 2 | ATM CL E G H | 472 | 208900 | Ataxia-telangiectasia syndrome | 208900 | C0004135 | OMIM | 1 | | 14692 | 795 | 607585 |
HP:0001336 | HP:0010828 | Hemifacial spasm | 2 | ATN1 CL E G H | 1822 | 101 | | | | ORPHA | 1 | | 213 | 3033 | 607462 |
HP:0001336 | HP:0033054 | Myoclonic tremor | 2 | ATN1 CL E G H | 1822 | 101 | | | | ORPHA | 1 | | 213 | 3033 | 607462 |
HP:0001336 | HP:0010828 | Hemifacial spasm | 2 | ATP13A2 CL E G H | 23400 | 314632 | | | | ORPHA | 1 | | 974 | 30213 | 610513 |
HP:0001336 | HP:0010828 | Hemifacial spasm | 2 | ATP13A2 CL E G H | 23400 | 306674 | | | | ORPHA | 1 | | 974 | 30213 | 610513 |
HP:0001336 | HP:0033054 | Myoclonic tremor | 2 | ATP13A2 CL E G H | 23400 | 306674 | | | | ORPHA | 1 | | 974 | 30213 | 610513 |
HP:0001336 | HP:0033054 | Myoclonic tremor | 2 | ATP13A2 CL E G H | 23400 | 314632 | | | | ORPHA | 1 | | 974 | 30213 | 610513 |
HP:0001336 | HP:0010828 | Hemifacial spasm | 2 | ATP13A2 CL E G H | 23400 | 606693 | Parkinson disease 9 | 606693 | C1847640 | OMIM | 1 | | 974 | 30213 | 610513 |
HP:0001336 | HP:0033054 | Myoclonic tremor | 2 | ATP13A2 CL E G H | 23400 | 606693 | Parkinson disease 9 | 606693 | C1847640 | OMIM | 1 | | 974 | 30213 | 610513 |
HP:0001336 | HP:0010828 | Hemifacial spasm | 2 | ATXN2 CL E G H | 6311 | 183090 | Spinocerebellar ataxia 2 | 183090 | C0752121 | OMIM | 1 | | 115 | 10555 | 601517 |
HP:0001336 | HP:0033054 | Myoclonic tremor | 2 | ATXN2 CL E G H | 6311 | 183090 | Spinocerebellar ataxia 2 | 183090 | C0752121 | OMIM | 1 | | 115 | 10555 | 601517 |
HP:0001336 | HP:0033054 | Myoclonic tremor | 2 | BSCL2 CL E G H | 26580 | 363400 | | | | ORPHA | 1 | | 510 | 15832 | 606158 |
HP:0001336 | HP:0010828 | Hemifacial spasm | 2 | BSCL2 CL E G H | 26580 | 363400 | | | | ORPHA | 1 | | 510 | 15832 | 606158 |
HP:0001336 | HP:0033054 | Myoclonic tremor | 2 | BSCL2 CL E G H | 26580 | 615924 | Encephalopathy, progressive, with or without lipodystrophy | 615924 | C4014700 | OMIM | 1 | | 510 | 15832 | 606158 |
HP:0001336 | HP:0010828 | Hemifacial spasm | 2 | BSCL2 CL E G H | 26580 | 615924 | Encephalopathy, progressive, with or without lipodystrophy | 615924 | C4014700 | OMIM | 1 | | 510 | 15832 | 606158 |
HP:0001336 | HP:0033054 | Myoclonic tremor | 2 | CACNA1B CL E G H | 774 | 614860 | Dystonia 23 | 614860 | C3538999 | OMIM | 1 | | 1288 | 1389 | 601012 |
HP:0001336 | HP:0010828 | Hemifacial spasm | 2 | CACNA1B CL E G H | 774 | 614860 | Dystonia 23 | 614860 | C3538999 | OMIM | 1 | | 1288 | 1389 | 601012 |
HP:0001336 | HP:0010828 | Hemifacial spasm | 2 | CACNA1E CL E G H | 777 | 618285 | 618285 | 618285 | | OMIM | 1 | | 1583 | 1392 | 601013 |
HP:0001336 | HP:0033054 | Myoclonic tremor | 2 | CACNA1E CL E G H | 777 | 618285 | 618285 | 618285 | | OMIM | 1 | | 1583 | 1392 | 601013 |
HP:0001336 | HP:0010828 | Hemifacial spasm | 2 | CARS2 CL E G H | 79587 | 616672 | Combined oxidative phosphorylation deficiency 27 | 616672 | C4225251 | OMIM | 1 | | 825 | 25695 | 612800 |
HP:0001336 | HP:0033054 | Myoclonic tremor | 2 | CARS2 CL E G H | 79587 | 616672 | Combined oxidative phosphorylation deficiency 27 | 616672 | C4225251 | OMIM | 1 | | 825 | 25695 | 612800 |
HP:0001336 | HP:0010828 | Hemifacial spasm | 2 | CCDC88A CL E G H | 55704 | 617507 | PEHO-like syndrome | 617507 | C1850056 | OMIM | 1 | | 838 | 25523 | 609736 |
HP:0001336 | HP:0033054 | Myoclonic tremor | 2 | CCDC88A CL E G H | 55704 | 617507 | PEHO-like syndrome | 617507 | C1850056 | OMIM | 1 | | 838 | 25523 | 609736 |
HP:0001336 | HP:0010828 | Hemifacial spasm | 2 | CDKL5 CL E G H | 6792 | 300672 | Early infantile epileptic encephalopathy 2 | 300672 | C1839333 | OMIM | 1 | | 1738 | 11411 | 300203 |
HP:0001336 | HP:0033054 | Myoclonic tremor | 2 | CDKL5 CL E G H | 6792 | 300672 | Early infantile epileptic encephalopathy 2 | 300672 | C1839333 | OMIM | 1 | | 1738 | 11411 | 300203 |
HP:0001336 | HP:0010828 | Hemifacial spasm | 2 | CDKL5 CL E G H | 6792 | 3451 | Meier Blumberg Imahorn syndrome | | | ORPHA | 1 | | 1738 | 11411 | 300203 |
HP:0001336 | HP:0033054 | Myoclonic tremor | 2 | CDKL5 CL E G H | 6792 | 3451 | Meier Blumberg Imahorn syndrome | | | ORPHA | 1 | | 1738 | 11411 | 300203 |
HP:0001336 | HP:0010828 | Hemifacial spasm | 2 | CERS1 CL E G H | 10715 | 616230 | Epilepsy, progressive myoclonic 8 | 616230 | C4015619 | OMIM | 1 | | 411 | 14253 | 606919 |
HP:0001336 | HP:0033054 | Myoclonic tremor | 2 | CERS1 CL E G H | 10715 | 616230 | Epilepsy, progressive myoclonic 8 | 616230 | C4015619 | OMIM | 1 | | 411 | 14253 | 606919 |
HP:0001336 | HP:0033054 | Myoclonic tremor | 2 | CHD2 CL E G H | 1106 | 2382 | | | | ORPHA | 1 | | 1838 | 1917 | 602119 |
HP:0001336 | HP:0010828 | Hemifacial spasm | 2 | CHD2 CL E G H | 1106 | 2382 | | | | ORPHA | 1 | | 1838 | 1917 | 602119 |
HP:0001336 | HP:0033054 | Myoclonic tremor | 2 | CHMP2B CL E G H | 25978 | 600795 | Frontotemporal Dementia, Chromosome 3-Linked | 600795 | C1833296 | OMIM | 1 | | 160 | 24537 | 609512 |
HP:0001336 | HP:0010828 | Hemifacial spasm | 2 | CHMP2B CL E G H | 25978 | 600795 | Frontotemporal Dementia, Chromosome 3-Linked | 600795 | C1833296 | OMIM | 1 | | 160 | 24537 | 609512 |
HP:0001336 | HP:0033054 | Myoclonic tremor | 2 | CIZ1 CL E G H | 25792 | 420492 | | | | ORPHA | 1 | | 352 | 16744 | 611420 |
HP:0001336 | HP:0010828 | Hemifacial spasm | 2 | CIZ1 CL E G H | 25792 | 420492 | | | | ORPHA | 1 | | 352 | 16744 | 611420 |
HP:0001336 | HP:0010828 | Hemifacial spasm | 2 | CLN3 CL E G H | 1201 | 204200 | Juvenile neuronal ceroid lipofuscinosis | 204200 | C0751383 | OMIM | 1 | | 1015 | 2074 | 607042 |
HP:0001336 | HP:0033054 | Myoclonic tremor | 2 | CLN3 CL E G H | 1201 | 204200 | Juvenile neuronal ceroid lipofuscinosis | 204200 | C0751383 | OMIM | 1 | | 1015 | 2074 | 607042 |
HP:0001336 | HP:0033054 | Myoclonic tremor | 2 | CLN5 CL E G H | 1203 | 256731 | Ceroid lipofuscinosis neuronal 5 | 256731 | C1850442 | OMIM | 1 | | 702 | 2076 | 608102 |
HP:0001336 | HP:0010828 | Hemifacial spasm | 2 | CLN5 CL E G H | 1203 | 256731 | Ceroid lipofuscinosis neuronal 5 | 256731 | C1850442 | OMIM | 1 | | 702 | 2076 | 608102 |
HP:0001336 | HP:0033054 | Myoclonic tremor | 2 | CLN6 CL E G H | 54982 | 204300 | Adult neuronal ceroid lipofuscinosis | 204300 | C0022797 | OMIM | 1 | | 661 | 2077 | 606725 |
HP:0001336 | HP:0010828 | Hemifacial spasm | 2 | CLN6 CL E G H | 54982 | 204300 | Adult neuronal ceroid lipofuscinosis | 204300 | C0022797 | OMIM | 1 | | 661 | 2077 | 606725 |
HP:0001336 | HP:0010828 | Hemifacial spasm | 2 | CLN8 CL E G H | 2055 | 600143 | Ceroid lipofuscinosis neuronal 8 | 600143 | C1838570 | OMIM | 1 | | 640 | 2079 | 607837 |
HP:0001336 | HP:0033054 | Myoclonic tremor | 2 | CLN8 CL E G H | 2055 | 600143 | Ceroid lipofuscinosis neuronal 8 | 600143 | C1838570 | OMIM | 1 | | 640 | 2079 | 607837 |
HP:0001336 | HP:0033054 | Myoclonic tremor | 2 | CNPY3 CL E G H | 10695 | 3451 | Meier Blumberg Imahorn syndrome | | | ORPHA | 1 | | 44 | 11968 | 610774 |
HP:0001336 | HP:0010828 | Hemifacial spasm | 2 | CNPY3 CL E G H | 10695 | 3451 | Meier Blumberg Imahorn syndrome | | | ORPHA | 1 | | 44 | 11968 | 610774 |
HP:0001336 | HP:0010828 | Hemifacial spasm | 2 | CNTN2 CL E G H | 6900 | 86814 | | | | ORPHA | 1 | | 676 | 2172 | 190197 |
HP:0001336 | HP:0033054 | Myoclonic tremor | 2 | CNTN2 CL E G H | 6900 | 86814 | | | | ORPHA | 1 | | 676 | 2172 | 190197 |
HP:0001336 | HP:0010828 | Hemifacial spasm | 2 | CPLX1 CL E G H | 10815 | 352582 | | | | ORPHA | 1 | | 206 | 2309 | 605032 |
HP:0001336 | HP:0033054 | Myoclonic tremor | 2 | CPLX1 CL E G H | 10815 | 352582 | | | | ORPHA | 1 | | 206 | 2309 | 605032 |
HP:0001336 | HP:0010828 | Hemifacial spasm | 2 | CSTB CL E G H | 1476 | 254800 | Unverricht-Lundborg syndrome | 254800 | C0751785 | OMIM | 1 | | 261 | 2482 | 601145 |
HP:0001336 | HP:0033054 | Myoclonic tremor | 2 | CSTB CL E G H | 1476 | 254800 | Unverricht-Lundborg syndrome | 254800 | C0751785 | OMIM | 1 | | 261 | 2482 | 601145 |
HP:0001336 | HP:0033054 | Myoclonic tremor | 2 | CTNND2 CL E G H | 1501 | 86814 | | | | ORPHA | 1 | | 351 | 2516 | 604275 |
HP:0001336 | HP:0010828 | Hemifacial spasm | 2 | CTNND2 CL E G H | 1501 | 86814 | | | | ORPHA | 1 | | 351 | 2516 | 604275 |
HP:0001336 | HP:0010828 | Hemifacial spasm | 2 | CTSF CL E G H | 8722 | 615362 | Ceroid lipofuscinosis, neuronal, 13 | 615362 | C3715049 | OMIM | 1 | | 218 | 2531 | 603539 |
HP:0001336 | HP:0033054 | Myoclonic tremor | 2 | CTSF CL E G H | 8722 | 615362 | Ceroid lipofuscinosis, neuronal, 13 | 615362 | C3715049 | OMIM | 1 | | 218 | 2531 | 603539 |
HP:0001336 | HP:0010828 | Hemifacial spasm | 2 | CUX2 CL E G H | 23316 | 2382 | | | | ORPHA | 1 | | 227 | 19347 | 610648 |
HP:0001336 | HP:0033054 | Myoclonic tremor | 2 | CUX2 CL E G H | 23316 | 2382 | | | | ORPHA | 1 | | 227 | 19347 | 610648 |
HP:0001336 | HP:0010828 | Hemifacial spasm | 2 | CYP27A1 CL E G H | 1593 | 909 | | | | ORPHA | 1 | | 940 | 2605 | 606530 |
HP:0001336 | HP:0033054 | Myoclonic tremor | 2 | CYP27A1 CL E G H | 1593 | 909 | | | | ORPHA | 1 | | 940 | 2605 | 606530 |
HP:0001336 | HP:0010828 | Hemifacial spasm | 2 | DAB1 CL E G H | 1600 | 363710 | | | | ORPHA | 1 | | 107 | 2661 | 603448 |
HP:0001336 | HP:0033054 | Myoclonic tremor | 2 | DAB1 CL E G H | 1600 | 363710 | | | | ORPHA | 1 | | 107 | 2661 | 603448 |
HP:0001336 | HP:0033054 | Myoclonic tremor | 2 | DDC CL E G H | 1644 | 608643 | Deficiency of aromatic-L-amino-acid decarboxylase | 608643 | C1291564 | OMIM | 1 | | 503 | 2719 | 107930 |
HP:0001336 | HP:0010828 | Hemifacial spasm | 2 | DDC CL E G H | 1644 | 608643 | Deficiency of aromatic-L-amino-acid decarboxylase | 608643 | C1291564 | OMIM | 1 | | 503 | 2719 | 107930 |
HP:0001336 | HP:0010828 | Hemifacial spasm | 2 | DENND5A CL E G H | 23258 | 617281 | Epileptic encephalopathy, early infantile, 49 | 617281 | C4310635 | OMIM | 1 | | 463 | 19344 | 617278 |
HP:0001336 | HP:0033054 | Myoclonic tremor | 2 | DENND5A CL E G H | 23258 | 617281 | Epileptic encephalopathy, early infantile, 49 | 617281 | C4310635 | OMIM | 1 | | 463 | 19344 | 617278 |
HP:0001336 | HP:0010828 | Hemifacial spasm | 2 | DNAJC5 CL E G H | 80331 | 162350 | Ceroid lipofuscinosis neuronal 4B autosomal dominant | 162350 | C1834207 | OMIM | 1 | | 428 | 16235 | 611203 |
HP:0001336 | HP:0033054 | Myoclonic tremor | 2 | DNAJC5 CL E G H | 80331 | 162350 | Ceroid lipofuscinosis neuronal 4B autosomal dominant | 162350 | C1834207 | OMIM | 1 | | 428 | 16235 | 611203 |
HP:0001336 | HP:0033054 | Myoclonic tremor | 2 | DNM1 CL E G H | 1759 | 2382 | | | | ORPHA | 1 | | 765 | 2972 | 602377 |
HP:0001336 | HP:0010828 | Hemifacial spasm | 2 | DNM1 CL E G H | 1759 | 2382 | | | | ORPHA | 1 | | 765 | 2972 | 602377 |
HP:0001336 | HP:0010828 | Hemifacial spasm | 2 | EPM2A CL E G H | 7957 | 254780 | Lafora disease | 254780 | C0751783 | OMIM | 1 | | 416 | 3413 | 607566 |
HP:0001336 | HP:0033054 | Myoclonic tremor | 2 | EPM2A CL E G H | 7957 | 254780 | Lafora disease | 254780 | C0751783 | OMIM | 1 | | 416 | 3413 | 607566 |
HP:0001336 | HP:0010828 | Hemifacial spasm | 2 | FARS2 CL E G H | 10667 | 614946 | Combined oxidative phosphorylation deficiency 14 | 614946 | C3554168 | OMIM | 1 | | 564 | 21062 | 611592 |
HP:0001336 | HP:0033054 | Myoclonic tremor | 2 | FARS2 CL E G H | 10667 | 614946 | Combined oxidative phosphorylation deficiency 14 | 614946 | C3554168 | OMIM | 1 | | 564 | 21062 | 611592 |
HP:0001336 | HP:0033054 | Myoclonic tremor | 2 | FBXO7 CL E G H | 25793 | 171695 | | | | ORPHA | 1 | | 243 | 13586 | 605648 |
HP:0001336 | HP:0010828 | Hemifacial spasm | 2 | FBXO7 CL E G H | 25793 | 171695 | | | | ORPHA | 1 | | 243 | 13586 | 605648 |
HP:0001336 | HP:0033054 | Myoclonic tremor | 2 | FOXRED1 CL E G H | 55572 | 618241 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 19 | 618241 | | OMIM | 1 | | 323 | 26927 | 613622 |
HP:0001336 | HP:0010828 | Hemifacial spasm | 2 | FOXRED1 CL E G H | 55572 | 618241 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 19 | 618241 | | OMIM | 1 | | 323 | 26927 | 613622 |
HP:0001336 | HP:0033054 | Myoclonic tremor | 2 | FRRS1L CL E G H | 23732 | 616981 | Epileptic encephalopathy, early infantile, 37 | 616981 | C4310770 | OMIM | 1 | | 402 | 1362 | 604574 |
HP:0001336 | HP:0010828 | Hemifacial spasm | 2 | FRRS1L CL E G H | 23732 | 616981 | Epileptic encephalopathy, early infantile, 37 | 616981 | C4310770 | OMIM | 1 | | 402 | 1362 | 604574 |
HP:0001336 | HP:0010828 | Hemifacial spasm | 2 | GABRB2 CL E G H | 2561 | 617829 | EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 2 | 617829 | CN757794 | OMIM | 1 | | 494 | 4082 | 600232 |
HP:0001336 | HP:0033054 | Myoclonic tremor | 2 | GABRB2 CL E G H | 2561 | 617829 | EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 2 | 617829 | CN757794 | OMIM | 1 | | 494 | 4082 | 600232 |
HP:0001336 | HP:0010828 | Hemifacial spasm | 2 | GABRB3 CL E G H | 2562 | 2382 | | | | ORPHA | 1 | | 838 | 4083 | 137192 |
HP:0001336 | HP:0033054 | Myoclonic tremor | 2 | GABRB3 CL E G H | 2562 | 2382 | | | | ORPHA | 1 | | 838 | 4083 | 137192 |
HP:0001336 | HP:0033054 | Myoclonic tremor | 2 | GAMT CL E G H | 2593 | 612736 | Deficiency of guanidinoacetate methyltransferase | 612736 | C0574080 | OMIM | 1 | | 588 | 4136 | 601240 |
HP:0001336 | HP:0010828 | Hemifacial spasm | 2 | GAMT CL E G H | 2593 | 612736 | Deficiency of guanidinoacetate methyltransferase | 612736 | C0574080 | OMIM | 1 | | 588 | 4136 | 601240 |
HP:0001336 | HP:0033054 | Myoclonic tremor | 2 | GBA CL E G H | 2629 | 231000 | Subacute neuronopathic Gaucher's disease | 231000 | C0268251 | OMIM | 1 | | | 4177 | 606463 |
HP:0001336 | HP:0010828 | Hemifacial spasm | 2 | GBA CL E G H | 2629 | 231000 | Subacute neuronopathic Gaucher's disease | 231000 | C0268251 | OMIM | 1 | | | 4177 | 606463 |
HP:0001336 | HP:0010828 | Hemifacial spasm | 2 | GCSH CL E G H | 2653 | 605899 | Non-ketotic hyperglycinemia | 605899 | C0751748 | OMIM | 1 | | 176 | 4208 | 238330 |
HP:0001336 | HP:0033054 | Myoclonic tremor | 2 | GCSH CL E G H | 2653 | 605899 | Non-ketotic hyperglycinemia | 605899 | C0751748 | OMIM | 1 | | 176 | 4208 | 238330 |
HP:0001336 | HP:0033054 | Myoclonic tremor | 2 | GLDC CL E G H | 2731 | 605899 | Non-ketotic hyperglycinemia | 605899 | C0751748 | OMIM | 1 | | 2238 | 4313 | 238300 |
HP:0001336 | HP:0010828 | Hemifacial spasm | 2 | GLDC CL E G H | 2731 | 605899 | Non-ketotic hyperglycinemia | 605899 | C0751748 | OMIM | 1 | | 2238 | 4313 | 238300 |
HP:0001336 | HP:0010828 | Hemifacial spasm | 2 | GLRA1 CL E G H | 2741 | 149400 | Hyperekplexia hereditary | 149400 | C1835614 | OMIM | 1 | | 447 | 4326 | 138491 |
HP:0001336 | HP:0033054 | Myoclonic tremor | 2 | GLRA1 CL E G H | 2741 | 149400 | Hyperekplexia hereditary | 149400 | C1835614 | OMIM | 1 | | 447 | 4326 | 138491 |
HP:0001336 | HP:0033054 | Myoclonic tremor | 2 | GLRA1 CL E G H | 2741 | 3197 | Lateral body wall defect | | | ORPHA | 1 | | 447 | 4326 | 138491 |
HP:0001336 | HP:0010828 | Hemifacial spasm | 2 | GLRA1 CL E G H | 2741 | 3197 | Lateral body wall defect | | | ORPHA | 1 | | 447 | 4326 | 138491 |
HP:0001336 | HP:0010828 | Hemifacial spasm | 2 | GLRB CL E G H | 2743 | 614619 | Hyperekplexia 2 | 614619 | C3553291 | OMIM | 1 | | 379 | 4329 | 138492 |
HP:0001336 | HP:0033054 | Myoclonic tremor | 2 | GLRB CL E G H | 2743 | 614619 | Hyperekplexia 2 | 614619 | C3553291 | OMIM | 1 | | 379 | 4329 | 138492 |
HP:0001336 | HP:0010828 | Hemifacial spasm | 2 | GLRB CL E G H | 2743 | 3197 | Lateral body wall defect | | | ORPHA | 1 | | 379 | 4329 | 138492 |
HP:0001336 | HP:0033054 | Myoclonic tremor | 2 | GLRB CL E G H | 2743 | 3197 | Lateral body wall defect | | | ORPHA | 1 | | 379 | 4329 | 138492 |
HP:0001336 | HP:0010828 | Hemifacial spasm | 2 | GLYCTK CL E G H | 132158 | 220120 | Deficiency of glycerate kinase | 220120 | C1291386 | OMIM | 1 | | 166 | 24247 | 610516 |
HP:0001336 | HP:0033054 | Myoclonic tremor | 2 | GLYCTK CL E G H | 132158 | 220120 | Deficiency of glycerate kinase | 220120 | C1291386 | OMIM | 1 | | 166 | 24247 | 610516 |
HP:0001336 | HP:0010828 | Hemifacial spasm | 2 | GOSR2 CL E G H | 9570 | 614018 | Epilepsy, progressive myoclonic 6 | 614018 | C3279627 | OMIM | 1 | | 320 | 4431 | 604027 |
HP:0001336 | HP:0033054 | Myoclonic tremor | 2 | GOSR2 CL E G H | 9570 | 614018 | Epilepsy, progressive myoclonic 6 | 614018 | C3279627 | OMIM | 1 | | 320 | 4431 | 604027 |
HP:0001336 | HP:0033054 | Myoclonic tremor | 2 | GPHN CL E G H | 10243 | 149400 | Hyperekplexia hereditary | 149400 | C1835614 | OMIM | 1 | | 1473 | 15465 | 603930 |
HP:0001336 | HP:0010828 | Hemifacial spasm | 2 | GPHN CL E G H | 10243 | 149400 | Hyperekplexia hereditary | 149400 | C1835614 | OMIM | 1 | | 1473 | 15465 | 603930 |
HP:0001336 | HP:0033054 | Myoclonic tremor | 2 | GPHN CL E G H | 10243 | 3197 | Lateral body wall defect | | | ORPHA | 1 | | 1473 | 15465 | 603930 |
HP:0001336 | HP:0010828 | Hemifacial spasm | 2 | GPHN CL E G H | 10243 | 3197 | Lateral body wall defect | | | ORPHA | 1 | | 1473 | 15465 | 603930 |
HP:0001336 | HP:0033054 | Myoclonic tremor | 2 | GRIN1 CL E G H | 2902 | 614254 | Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant | 614254 | C3280282 | OMIM | 1 | | 929 | 4584 | 138249 |
HP:0001336 | HP:0010828 | Hemifacial spasm | 2 | GRIN1 CL E G H | 2902 | 614254 | Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant | 614254 | C3280282 | OMIM | 1 | | 929 | 4584 | 138249 |
HP:0001336 | HP:0010828 | Hemifacial spasm | 2 | GRIN2B CL E G H | 2904 | 3451 | Meier Blumberg Imahorn syndrome | | | ORPHA | 1 | | 1353 | 4586 | 138252 |
HP:0001336 | HP:0033054 | Myoclonic tremor | 2 | GRIN2B CL E G H | 2904 | 3451 | Meier Blumberg Imahorn syndrome | | | ORPHA | 1 | | 1353 | 4586 | 138252 |
HP:0001336 | HP:0010828 | Hemifacial spasm | 2 | GUF1 CL E G H | 60558 | 617065 | Epileptic encephalopathy, early infantile, 40 | 617065 | C4310737 | OMIM | 1 | | 309 | 25799 | 617064 |
HP:0001336 | HP:0033054 | Myoclonic tremor | 2 | GUF1 CL E G H | 60558 | 617065 | Epileptic encephalopathy, early infantile, 40 | 617065 | C4310737 | OMIM | 1 | | 309 | 25799 | 617064 |
HP:0001336 | HP:0033054 | Myoclonic tremor | 2 | GUF1 CL E G H | 60558 | 3451 | Meier Blumberg Imahorn syndrome | | | ORPHA | 1 | | 309 | 25799 | 617064 |
HP:0001336 | HP:0010828 | Hemifacial spasm | 2 | GUF1 CL E G H | 60558 | 3451 | Meier Blumberg Imahorn syndrome | | | ORPHA | 1 | | 309 | 25799 | 617064 |
HP:0001336 | HP:0033054 | Myoclonic tremor | 2 | HIBCH CL E G H | 26275 | 250620 | Beta-hydroxyisobutyryl-CoA deacylase deficiency | 250620 | C0342738 | OMIM | 1 | | 235 | 4908 | 610690 |
HP:0001336 | HP:0010828 | Hemifacial spasm | 2 | HIBCH CL E G H | 26275 | 250620 | Beta-hydroxyisobutyryl-CoA deacylase deficiency | 250620 | C0342738 | OMIM | 1 | | 235 | 4908 | 610690 |
HP:0001336 | HP:0010828 | Hemifacial spasm | 2 | HMGCL CL E G H | 3155 | 246450 | Deficiency of hydroxymethylglutaryl-CoA lyase | 246450 | C0268601 | OMIM | 1 | | 420 | 5005 | 613898 |
HP:0001336 | HP:0033054 | Myoclonic tremor | 2 | HMGCL CL E G H | 3155 | 246450 | Deficiency of hydroxymethylglutaryl-CoA lyase | 246450 | C0268601 | OMIM | 1 | | 420 | 5005 | 613898 |
HP:0001336 | HP:0033054 | Myoclonic tremor | 2 | KCNA2 CL E G H | 3737 | 616366 | Epileptic encephalopathy, early infantile, 32 | 616366 | C4225350 | OMIM | 1 | | 401 | 6220 | 176262 |
HP:0001336 | HP:0010828 | Hemifacial spasm | 2 | KCNA2 CL E G H | 3737 | 616366 | Epileptic encephalopathy, early infantile, 32 | 616366 | C4225350 | OMIM | 1 | | 401 | 6220 | 176262 |
HP:0001336 | HP:0033054 | Myoclonic tremor | 2 | KCNC1 CL E G H | 3746 | 616187 | Epilepsy, progressive myoclonic 7 | 616187 | C4015420 | OMIM | 1 | | 391 | 6233 | 176258 |
HP:0001336 | HP:0010828 | Hemifacial spasm | 2 | KCNC1 CL E G H | 3746 | 616187 | Epilepsy, progressive myoclonic 7 | 616187 | C4015420 | OMIM | 1 | | 391 | 6233 | 176258 |
HP:0001336 | HP:0010828 | Hemifacial spasm | 2 | KCND3 CL E G H | 3752 | 607346 | Spinocerebellar ataxia 19 | 607346 | C1846367 | OMIM | 1 | | 467 | 6239 | 605411 |
HP:0001336 | HP:0033054 | Myoclonic tremor | 2 | KCND3 CL E G H | 3752 | 607346 | Spinocerebellar ataxia 19 | 607346 | C1846367 | OMIM | 1 | | 467 | 6239 | 605411 |
HP:0001336 | HP:0033054 | Myoclonic tremor | 2 | KCNQ2 CL E G H | 3785 | 306 | | | | ORPHA | 1 | | 1962 | 6296 | 602235 |
HP:0001336 | HP:0010828 | Hemifacial spasm | 2 | KCNQ2 CL E G H | 3785 | 306 | | | | ORPHA | 1 | | 1962 | 6296 | 602235 |
HP:0001336 | HP:0010828 | Hemifacial spasm | 2 | KCNQ3 CL E G H | 3786 | 306 | | | | ORPHA | 1 | | 1227 | 6297 | 602232 |
HP:0001336 | HP:0033054 | Myoclonic tremor | 2 | KCNQ3 CL E G H | 3786 | 306 | | | | ORPHA | 1 | | 1227 | 6297 | 602232 |
HP:0001336 | HP:0010828 | Hemifacial spasm | 2 | KCTD17 CL E G H | 79734 | 616398 | Dystonia 26, myoclonic | 616398 | C4225341 | OMIM | 1 | | 144 | 25705 | 616386 |
HP:0001336 | HP:0033054 | Myoclonic tremor | 2 | KCTD17 CL E G H | 79734 | 616398 | Dystonia 26, myoclonic | 616398 | C4225341 | OMIM | 1 | | 144 | 25705 | 616386 |
HP:0001336 | HP:0033054 | Myoclonic tremor | 2 | KIF5A CL E G H | 3798 | 617235 | Myoclonus, intractable, neonatal | 617235 | C4310658 | OMIM | 1 | | 1014 | 6323 | 602821 |
HP:0001336 | HP:0010828 | Hemifacial spasm | 2 | KIF5A CL E G H | 3798 | 617235 | Myoclonus, intractable, neonatal | 617235 | C4310658 | OMIM | 1 | | 1014 | 6323 | 602821 |
HP:0001336 | HP:0010828 | Hemifacial spasm | 2 | LIAS CL E G H | 11019 | 614462 | Pyruvate dehydrogenase lipoic acid synthetase deficiency | 614462 | C3280887 | OMIM | 1 | | 410 | 16429 | 607031 |
HP:0001336 | HP:0033054 | Myoclonic tremor | 2 | LIAS CL E G H | 11019 | 614462 | Pyruvate dehydrogenase lipoic acid synthetase deficiency | 614462 | C3280887 | OMIM | 1 | | 410 | 16429 | 607031 |
HP:0001336 | HP:0010828 | Hemifacial spasm | 2 | LMNB2 CL E G H | 84823 | 616540 | Epilepsy, progressive myoclonic, 9 | 616540 | C4225289 | OMIM | 1 | | 548 | 6638 | 150341 |
HP:0001336 | HP:0033054 | Myoclonic tremor | 2 | LMNB2 CL E G H | 84823 | 616540 | Epilepsy, progressive myoclonic, 9 | 616540 | C4225289 | OMIM | 1 | | 548 | 6638 | 150341 |
HP:0001336 | HP:0033054 | Myoclonic tremor | 2 | MAPK10 CL E G H | 5602 | 2382 | | | | ORPHA | 1 | | 70 | 6872 | 602897 |
HP:0001336 | HP:0010828 | Hemifacial spasm | 2 | MAPK10 CL E G H | 5602 | 2382 | | | | ORPHA | 1 | | 70 | 6872 | 602897 |
HP:0001336 | HP:0033054 | Myoclonic tremor | 2 | MECP2 CL E G H | 4204 | 300673 | Severe neonatal-onset encephalopathy with microcephaly | 300673 | C1968556 | OMIM | 1 | | 1925 | 6990 | 300005 |
HP:0001336 | HP:0010828 | Hemifacial spasm | 2 | MECP2 CL E G H | 4204 | 300673 | Severe neonatal-onset encephalopathy with microcephaly | 300673 | C1968556 | OMIM | 1 | | 1925 | 6990 | 300005 |
HP:0001336 | HP:0033054 | Myoclonic tremor | 2 | MECR CL E G H | 51102 | 617282 | Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities | 617282 | C4310634 | OMIM | 1 | | 151 | 19691 | 608205 |
HP:0001336 | HP:0010828 | Hemifacial spasm | 2 | MECR CL E G H | 51102 | 617282 | Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities | 617282 | C4310634 | OMIM | 1 | | 151 | 19691 | 608205 |
HP:0001336 | HP:0010828 | Hemifacial spasm | 2 | MT-TF CL E G H | 4558 | 545000 | Myoclonus with epilepsy with ragged red fibers | 545000 | C0162672 | OMIM | 1 | | | 7481 | 590070 |
HP:0001336 | HP:0033054 | Myoclonic tremor | 2 | MT-TF CL E G H | 4558 | 545000 | Myoclonus with epilepsy with ragged red fibers | 545000 | C0162672 | OMIM | 1 | | | 7481 | 590070 |
HP:0001336 | HP:0033054 | Myoclonic tremor | 2 | MT-TI CL E G H | 4565 | 545000 | Myoclonus with epilepsy with ragged red fibers | 545000 | C0162672 | OMIM | 1 | | | 7488 | 590045 |
HP:0001336 | HP:0010828 | Hemifacial spasm | 2 | MT-TI CL E G H | 4565 | 545000 | Myoclonus with epilepsy with ragged red fibers | 545000 | C0162672 | OMIM | 1 | | | 7488 | 590045 |
HP:0001336 | HP:0010828 | Hemifacial spasm | 2 | MT-TK CL E G H | 4566 | 545000 | Myoclonus with epilepsy with ragged red fibers | 545000 | C0162672 | OMIM | 1 | | | 7489 | 590060 |
HP:0001336 | HP:0033054 | Myoclonic tremor | 2 | MT-TK CL E G H | 4566 | 545000 | Myoclonus with epilepsy with ragged red fibers | 545000 | C0162672 | OMIM | 1 | | | 7489 | 590060 |
HP:0001336 | HP:0033054 | Myoclonic tremor | 2 | MT-TL1 CL E G H | 4567 | 545000 | Myoclonus with epilepsy with ragged red fibers | 545000 | C0162672 | OMIM | 1 | | | 7490 | 590050 |
HP:0001336 | HP:0010828 | Hemifacial spasm | 2 | MT-TL1 CL E G H | 4567 | 545000 | Myoclonus with epilepsy with ragged red fibers | 545000 | C0162672 | OMIM | 1 | | | 7490 | 590050 |
HP:0001336 | HP:0010828 | Hemifacial spasm | 2 | MT-TP CL E G H | 4571 | 545000 | Myoclonus with epilepsy with ragged red fibers | 545000 | C0162672 | OMIM | 1 | | | 7494 | 590075 |
HP:0001336 | HP:0033054 | Myoclonic tremor | 2 | MT-TP CL E G H | 4571 | 545000 | Myoclonus with epilepsy with ragged red fibers | 545000 | C0162672 | OMIM | 1 | | | 7494 | 590075 |
HP:0001336 | HP:0033054 | Myoclonic tremor | 2 | MTPAP CL E G H | 55149 | 254343 | | | | ORPHA | 1 | | 346 | 25532 | 613669 |
HP:0001336 | HP:0010828 | Hemifacial spasm | 2 | MTPAP CL E G H | 55149 | 254343 | | | | ORPHA | 1 | | 346 | 25532 | 613669 |
HP:0001336 | HP:0033054 | Myoclonic tremor | 2 | NAGA CL E G H | 4668 | 79279 | | | | ORPHA | 1 | | 230 | 7631 | 104170 |
HP:0001336 | HP:0010828 | Hemifacial spasm | 2 | NAGA CL E G H | 4668 | 79279 | | | | ORPHA | 1 | | 230 | 7631 | 104170 |
HP:0001336 | HP:0033054 | Myoclonic tremor | 2 | NAGA CL E G H | 4668 | 609241 | Schindler disease, type 1 | 609241 | C1836544 | OMIM | 1 | | 230 | 7631 | 104170 |
HP:0001336 | HP:0010828 | Hemifacial spasm | 2 | NAGA CL E G H | 4668 | 609241 | Schindler disease, type 1 | 609241 | C1836544 | OMIM | 1 | | 230 | 7631 | 104170 |
HP:0001336 | HP:0010828 | Hemifacial spasm | 2 | NDUFAF3 CL E G H | 25915 | 618240 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 18 | 618240 | | OMIM | 1 | | 123 | 29918 | 612911 |
HP:0001336 | HP:0033054 | Myoclonic tremor | 2 | NDUFAF3 CL E G H | 25915 | 618240 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 18 | 618240 | | OMIM | 1 | | 123 | 29918 | 612911 |
HP:0001336 | HP:0033054 | Myoclonic tremor | 2 | NDUFV1 CL E G H | 4723 | 618225 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 4 | 618225 | | OMIM | 1 | | 315 | 7716 | 161015 |
HP:0001336 | HP:0010828 | Hemifacial spasm | 2 | NDUFV1 CL E G H | 4723 | 618225 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 4 | 618225 | | OMIM | 1 | | 315 | 7716 | 161015 |
HP:0001336 | HP:0033054 | Myoclonic tremor | 2 | NEU1 CL E G H | 4758 | 812 | | | | ORPHA | 1 | | 185 | 7758 | 608272 |
HP:0001336 | HP:0010828 | Hemifacial spasm | 2 | NEU1 CL E G H | 4758 | 812 | | | | ORPHA | 1 | | 185 | 7758 | 608272 |
HP:0001336 | HP:0010828 | Hemifacial spasm | 2 | NEU1 CL E G H | 4758 | 256550 | Sialidosis, type II | 256550 | C0268226 | OMIM | 1 | | 185 | 7758 | 608272 |
HP:0001336 | HP:0033054 | Myoclonic tremor | 2 | NEU1 CL E G H | 4758 | 256550 | Sialidosis, type II | 256550 | C0268226 | OMIM | 1 | | 185 | 7758 | 608272 |
HP:0001336 | HP:0010828 | Hemifacial spasm | 2 | NGLY1 CL E G H | 55768 | 615273 | Congenital disorder of deglycosylation | 615273 | C3808991 | OMIM | 1 | | 656 | 17646 | 610661 |
HP:0001336 | HP:0033054 | Myoclonic tremor | 2 | NGLY1 CL E G H | 55768 | 615273 | Congenital disorder of deglycosylation | 615273 | C3808991 | OMIM | 1 | | 656 | 17646 | 610661 |
HP:0001336 | HP:0033054 | Myoclonic tremor | 2 | NHLRC1 CL E G H | 378884 | 254780 | Lafora disease | 254780 | C0751783 | OMIM | 1 | | 351 | 21576 | 608072 |
HP:0001336 | HP:0010828 | Hemifacial spasm | 2 | NHLRC1 CL E G H | 378884 | 254780 | Lafora disease | 254780 | C0751783 | OMIM | 1 | | 351 | 21576 | 608072 |
HP:0001336 | HP:0033054 | Myoclonic tremor | 2 | NME1 CL E G H | 4830 | 256700 | Neuroblastoma | 256700 | C0027819 | OMIM | 1 | | 16 | 7849 | 156490 |
HP:0001336 | HP:0010828 | Hemifacial spasm | 2 | NME1 CL E G H | 4830 | 256700 | Neuroblastoma | 256700 | C0027819 | OMIM | 1 | | 16 | 7849 | 156490 |
HP:0001336 | HP:0033054 | Myoclonic tremor | 2 | NOL3 CL E G H | 8996 | 614937 | Myoclonus, familial cortical | 614937 | C3539916 | OMIM | 1 | | 57 | 7869 | 605235 |
HP:0001336 | HP:0010828 | Hemifacial spasm | 2 | NOL3 CL E G H | 8996 | 614937 | Myoclonus, familial cortical | 614937 | C3539916 | OMIM | 1 | | 57 | 7869 | 605235 |
HP:0001336 | HP:0010828 | Hemifacial spasm | 2 | NTRK2 CL E G H | 4915 | 3451 | Meier Blumberg Imahorn syndrome | | | ORPHA | 1 | | 509 | 8032 | 600456 |
HP:0001336 | HP:0033054 | Myoclonic tremor | 2 | NTRK2 CL E G H | 4915 | 3451 | Meier Blumberg Imahorn syndrome | | | ORPHA | 1 | | 509 | 8032 | 600456 |
HP:0001336 | HP:0033054 | Myoclonic tremor | 2 | PHACTR1 CL E G H | 221692 | 3451 | Meier Blumberg Imahorn syndrome | | | ORPHA | 1 | | 97 | 20990 | 608723 |
HP:0001336 | HP:0010828 | Hemifacial spasm | 2 | PHACTR1 CL E G H | 221692 | 3451 | Meier Blumberg Imahorn syndrome | | | ORPHA | 1 | | 97 | 20990 | 608723 |
HP:0001336 | HP:0010828 | Hemifacial spasm | 2 | PIGA CL E G H | 5277 | 3451 | Meier Blumberg Imahorn syndrome | | | ORPHA | 1 | | 483 | 8957 | 311770 |
HP:0001336 | HP:0033054 | Myoclonic tremor | 2 | PIGA CL E G H | 5277 | 3451 | Meier Blumberg Imahorn syndrome | | | ORPHA | 1 | | 483 | 8957 | 311770 |
HP:0001336 | HP:0033054 | Myoclonic tremor | 2 | PLCB1 CL E G H | 23236 | 3451 | Meier Blumberg Imahorn syndrome | | | ORPHA | 1 | | 1107 | 15917 | 607120 |
HP:0001336 | HP:0010828 | Hemifacial spasm | 2 | PLCB1 CL E G H | 23236 | 3451 | Meier Blumberg Imahorn syndrome | | | ORPHA | 1 | | 1107 | 15917 | 607120 |
HP:0001336 | HP:0033054 | Myoclonic tremor | 2 | PLPBP CL E G H | 11212 | 617290 | Epilepsy, early-onset, vitamin b6-dependent | 617290 | C4310632 | OMIM | 1 | | 242 | 9457 | 604436 |
HP:0001336 | HP:0010828 | Hemifacial spasm | 2 | PLPBP CL E G H | 11212 | 617290 | Epilepsy, early-onset, vitamin b6-dependent | 617290 | C4310632 | OMIM | 1 | | 242 | 9457 | 604436 |
HP:0001336 | HP:0010828 | Hemifacial spasm | 2 | PNPO CL E G H | 55163 | 79096 | | | | ORPHA | 1 | | 317 | 30260 | 603287 |
HP:0001336 | HP:0033054 | Myoclonic tremor | 2 | PNPO CL E G H | 55163 | 79096 | | | | ORPHA | 1 | | 317 | 30260 | 603287 |
HP:0001336 | HP:0010828 | Hemifacial spasm | 2 | PNPO CL E G H | 55163 | 610090 | Pyridoxal 5'-phosphate-dependent epilepsy | 610090 | C1864723 | OMIM | 1 | | 317 | 30260 | 603287 |
HP:0001336 | HP:0033054 | Myoclonic tremor | 2 | PNPO CL E G H | 55163 | 610090 | Pyridoxal 5'-phosphate-dependent epilepsy | 610090 | C1864723 | OMIM | 1 | | 317 | 30260 | 603287 |
HP:0001336 | HP:0033054 | Myoclonic tremor | 2 | POLG CL E G H | 5428 | 70595 | | | | ORPHA | 1 | | 2324 | 9179 | 174763 |
HP:0001336 | HP:0010828 | Hemifacial spasm | 2 | POLG CL E G H | 5428 | 726 | | | | ORPHA | 1 | | 2324 | 9179 | 174763 |
HP:0001336 | HP:0010828 | Hemifacial spasm | 2 | POLG CL E G H | 5428 | 70595 | | | | ORPHA | 1 | | 2324 | 9179 | 174763 |
HP:0001336 | HP:0033054 | Myoclonic tremor | 2 | POLG CL E G H | 5428 | 726 | | | | ORPHA | 1 | | 2324 | 9179 | 174763 |
HP:0001336 | HP:0033054 | Myoclonic tremor | 2 | POLG CL E G H | 5428 | 203700 | Progressive sclerosing poliodystrophy | 203700 | C0205710 | OMIM | 1 | | 2324 | 9179 | 174763 |
HP:0001336 | HP:0010828 | Hemifacial spasm | 2 | POLG CL E G H | 5428 | 203700 | Progressive sclerosing poliodystrophy | 203700 | C0205710 | OMIM | 1 | | 2324 | 9179 | 174763 |
HP:0001336 | HP:0033054 | Myoclonic tremor | 2 | POLG CL E G H | 5428 | 607459 | Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis | 607459 | C1843851 | OMIM | 1 | | 2324 | 9179 | 174763 |
HP:0001336 | HP:0010828 | Hemifacial spasm | 2 | POLG CL E G H | 5428 | 607459 | Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis | 607459 | C1843851 | OMIM | 1 | | 2324 | 9179 | 174763 |
HP:0001336 | HP:0033054 | Myoclonic tremor | 2 | POMGNT1 CL E G H | 55624 | 253280 | Muscle eye brain disease | 253280 | C0457133 | OMIM | 1 | | 1174 | 19139 | 606822 |
HP:0001336 | HP:0010828 | Hemifacial spasm | 2 | POMGNT1 CL E G H | 55624 | 253280 | Muscle eye brain disease | 253280 | C0457133 | OMIM | 1 | | 1174 | 19139 | 606822 |
HP:0001336 | HP:0010828 | Hemifacial spasm | 2 | PPT1 CL E G H | 5538 | 256730 | Ceroid lipofuscinosis neuronal 1 | 256730 | C1850451 | OMIM | 1 | | 617 | 9325 | 600722 |
HP:0001336 | HP:0033054 | Myoclonic tremor | 2 | PPT1 CL E G H | 5538 | 256730 | Ceroid lipofuscinosis neuronal 1 | 256730 | C1850451 | OMIM | 1 | | 617 | 9325 | 600722 |
HP:0001336 | HP:0033054 | Myoclonic tremor | 2 | PRDM8 CL E G H | 56978 | 324290 | | | | ORPHA | 1 | | 439 | 13993 | 616639 |
HP:0001336 | HP:0010828 | Hemifacial spasm | 2 | PRDM8 CL E G H | 56978 | 324290 | | | | ORPHA | 1 | | 439 | 13993 | 616639 |
HP:0001336 | HP:0033054 | Myoclonic tremor | 2 | PRDM8 CL E G H | 56978 | 616640 | Epilepsy, progressive myoclonic, 10 | 616640 | C4225258 | OMIM | 1 | | 439 | 13993 | 616639 |
HP:0001336 | HP:0010828 | Hemifacial spasm | 2 | PRDM8 CL E G H | 56978 | 616640 | Epilepsy, progressive myoclonic, 10 | 616640 | C4225258 | OMIM | 1 | | 439 | 13993 | 616639 |
HP:0001336 | HP:0010828 | Hemifacial spasm | 2 | PRNP CL E G H | 5621 | 282166 | | | | ORPHA | 1 | | 191 | 9449 | 176640 |
HP:0001336 | HP:0033054 | Myoclonic tremor | 2 | PRNP CL E G H | 5621 | 282166 | | | | ORPHA | 1 | | 191 | 9449 | 176640 |
HP:0001336 | HP:0033054 | Myoclonic tremor | 2 | PRNP CL E G H | 5621 | 600072 | Fatal familial insomnia | 600072 | C0206042 | OMIM | 1 | | 191 | 9449 | 176640 |
HP:0001336 | HP:0010828 | Hemifacial spasm | 2 | PRNP CL E G H | 5621 | 600072 | Fatal familial insomnia | 600072 | C0206042 | OMIM | 1 | | 191 | 9449 | 176640 |
HP:0001336 | HP:0033054 | Myoclonic tremor | 2 | PRNP CL E G H | 5621 | 137440 | Gerstmann-Straussler-Scheinker syndrome | 137440 | C0017495 | OMIM | 1 | | 191 | 9449 | 176640 |
HP:0001336 | HP:0010828 | Hemifacial spasm | 2 | PRNP CL E G H | 5621 | 137440 | Gerstmann-Straussler-Scheinker syndrome | 137440 | C0017495 | OMIM | 1 | | 191 | 9449 | 176640 |
HP:0001336 | HP:0033054 | Myoclonic tremor | 2 | PRNP CL E G H | 5621 | 123400 | Jakob-Creutzfeldt disease | 123400 | C0022336 | OMIM | 1 | | 191 | 9449 | 176640 |
HP:0001336 | HP:0010828 | Hemifacial spasm | 2 | PRNP CL E G H | 5621 | 123400 | Jakob-Creutzfeldt disease | 123400 | C0022336 | OMIM | 1 | | 191 | 9449 | 176640 |
HP:0001336 | HP:0033054 | Myoclonic tremor | 2 | PRRT2 CL E G H | 112476 | 306 | | | | ORPHA | 1 | | 799 | 30500 | 614386 |
HP:0001336 | HP:0010828 | Hemifacial spasm | 2 | PRRT2 CL E G H | 112476 | 306 | | | | ORPHA | 1 | | 799 | 30500 | 614386 |
HP:0001336 | HP:0010828 | Hemifacial spasm | 2 | PSAP CL E G H | 5660 | 139406 | | | | ORPHA | 1 | | 772 | 9498 | 176801 |
HP:0001336 | HP:0033054 | Myoclonic tremor | 2 | PSAP CL E G H | 5660 | 139406 | | | | ORPHA | 1 | | 772 | 9498 | 176801 |
HP:0001336 | HP:0010828 | Hemifacial spasm | 2 | PSAP CL E G H | 5660 | 611721 | Combined saposin deficiency | 611721 | C2673635 | OMIM | 1 | | 772 | 9498 | 176801 |
HP:0001336 | HP:0033054 | Myoclonic tremor | 2 | PSAP CL E G H | 5660 | 611721 | Combined saposin deficiency | 611721 | C2673635 | OMIM | 1 | | 772 | 9498 | 176801 |
HP:0001336 | HP:0033054 | Myoclonic tremor | 2 | PSAP CL E G H | 5660 | 610539 | Gaucher disease, atypical, due to saposin C deficiency | 610539 | C1864651 | OMIM | 1 | | 772 | 9498 | 176801 |
HP:0001336 | HP:0010828 | Hemifacial spasm | 2 | PSAP CL E G H | 5660 | 610539 | Gaucher disease, atypical, due to saposin C deficiency | 610539 | C1864651 | OMIM | 1 | | 772 | 9498 | 176801 |
HP:0001336 | HP:0033054 | Myoclonic tremor | 2 | PSEN1 CL E G H | 5663 | 1020 | | | | ORPHA | 1 | | 501 | 9508 | 104311 |
HP:0001336 | HP:0010828 | Hemifacial spasm | 2 | PSEN1 CL E G H | 5663 | 1020 | | | | ORPHA | 1 | | 501 | 9508 | 104311 |
HP:0001336 | HP:0033054 | Myoclonic tremor | 2 | PSEN1 CL E G H | 5663 | 607822 | Alzheimer disease, type 3 | 607822 | C1843013 | OMIM | 1 | | 501 | 9508 | 104311 |
HP:0001336 | HP:0010828 | Hemifacial spasm | 2 | PSEN1 CL E G H | 5663 | 607822 | Alzheimer disease, type 3 | 607822 | C1843013 | OMIM | 1 | | 501 | 9508 | 104311 |
HP:0001336 | HP:0010828 | Hemifacial spasm | 2 | PSEN2 CL E G H | 5664 | 1020 | | | | ORPHA | 1 | | 279 | 9509 | 600759 |
HP:0001336 | HP:0033054 | Myoclonic tremor | 2 | PSEN2 CL E G H | 5664 | 1020 | | | | ORPHA | 1 | | 279 | 9509 | 600759 |
HP:0001336 | HP:0010828 | Hemifacial spasm | 2 | PURA CL E G H | 5813 | 616158 | Mental retardation, autosomal dominant 31 | 616158 | C4015357 | OMIM | 1 | | 459 | 9701 | 600473 |
HP:0001336 | HP:0033054 | Myoclonic tremor | 2 | PURA CL E G H | 5813 | 616158 | Mental retardation, autosomal dominant 31 | 616158 | C4015357 | OMIM | 1 | | 459 | 9701 | 600473 |
HP:0001336 | HP:0033054 | Myoclonic tremor | 2 | QDPR CL E G H | 5860 | 261630 | Dihydropteridine reductase deficiency | 261630 | C0268465 | OMIM | 1 | | 319 | 9752 | 612676 |
HP:0001336 | HP:0010828 | Hemifacial spasm | 2 | QDPR CL E G H | 5860 | 261630 | Dihydropteridine reductase deficiency | 261630 | C0268465 | OMIM | 1 | | 319 | 9752 | 612676 |
HP:0001336 | HP:0033054 | Myoclonic tremor | 2 | RFT1 CL E G H | 91869 | 612015 | Congenital disorder of glycosylation type 1N | 612015 | C2677590 | OMIM | 1 | | 505 | 30220 | 611908 |
HP:0001336 | HP:0010828 | Hemifacial spasm | 2 | RFT1 CL E G H | 91869 | 612015 | Congenital disorder of glycosylation type 1N | 612015 | C2677590 | OMIM | 1 | | 505 | 30220 | 611908 |
HP:0001336 | HP:0010828 | Hemifacial spasm | 2 | SAMD12 CL E G H | 401474 | 86814 | | | | ORPHA | 1 | | 75 | 31750 | 618073 |
HP:0001336 | HP:0033054 | Myoclonic tremor | 2 | SAMD12 CL E G H | 401474 | 86814 | | | | ORPHA | 1 | | 75 | 31750 | 618073 |
HP:0001336 | HP:0033054 | Myoclonic tremor | 2 | SC5D CL E G H | 6309 | 46059 | | | | ORPHA | 1 | | 242 | 10547 | 602286 |
HP:0001336 | HP:0010828 | Hemifacial spasm | 2 | SC5D CL E G H | 6309 | 46059 | | | | ORPHA | 1 | | 242 | 10547 | 602286 |
HP:0001336 | HP:0033054 | Myoclonic tremor | 2 | SCARB2 CL E G H | 950 | 254900 | Epilepsy, progressive myoclonic 4, with or without renal failure | 254900 | C0751779 | OMIM | 1 | | 474 | 1665 | 602257 |
HP:0001336 | HP:0010828 | Hemifacial spasm | 2 | SCARB2 CL E G H | 950 | 254900 | Epilepsy, progressive myoclonic 4, with or without renal failure | 254900 | C0751779 | OMIM | 1 | | 474 | 1665 | 602257 |
HP:0001336 | HP:0010828 | Hemifacial spasm | 2 | SCN1A CL E G H | 6323 | 2382 | | | | ORPHA | 1 | | 4030 | 10585 | 182389 |
HP:0001336 | HP:0033054 | Myoclonic tremor | 2 | SCN1A CL E G H | 6323 | 2382 | | | | ORPHA | 1 | | 4030 | 10585 | 182389 |
HP:0001336 | HP:0010828 | Hemifacial spasm | 2 | SCN2A CL E G H | 6326 | 306 | | | | ORPHA | 1 | | 2280 | 10588 | 182390 |
HP:0001336 | HP:0033054 | Myoclonic tremor | 2 | SCN2A CL E G H | 6326 | 306 | | | | ORPHA | 1 | | 2280 | 10588 | 182390 |
HP:0001336 | HP:0010828 | Hemifacial spasm | 2 | SCN2A CL E G H | 6326 | 3451 | Meier Blumberg Imahorn syndrome | | | ORPHA | 1 | | 2280 | 10588 | 182390 |
HP:0001336 | HP:0033054 | Myoclonic tremor | 2 | SCN2A CL E G H | 6326 | 3451 | Meier Blumberg Imahorn syndrome | | | ORPHA | 1 | | 2280 | 10588 | 182390 |
HP:0001336 | HP:0033054 | Myoclonic tremor | 2 | SCN8A CL E G H | 6334 | 306 | | | | ORPHA | 1 | | 1799 | 10596 | 600702 |
HP:0001336 | HP:0010828 | Hemifacial spasm | 2 | SCN8A CL E G H | 6334 | 306 | | | | ORPHA | 1 | | 1799 | 10596 | 600702 |
HP:0001336 | HP:0010828 | Hemifacial spasm | 2 | SDHA CL E G H | 6389 | 252011 | Mitochondrial complex II deficiency | 252011 | C1855008 | OMIM | 1 | | 2503 | 10680 | 600857 |
HP:0001336 | HP:0033054 | Myoclonic tremor | 2 | SDHA CL E G H | 6389 | 252011 | Mitochondrial complex II deficiency | 252011 | C1855008 | OMIM | 1 | | 2503 | 10680 | 600857 |
HP:0001336 | HP:0033054 | Myoclonic tremor | 2 | SDHAF1 CL E G H | 644096 | 252011 | Mitochondrial complex II deficiency | 252011 | C1855008 | OMIM | 1 | | 77 | 33867 | 612848 |
HP:0001336 | HP:0010828 | Hemifacial spasm | 2 | SDHAF1 CL E G H | 644096 | 252011 | Mitochondrial complex II deficiency | 252011 | C1855008 | OMIM | 1 | | 77 | 33867 | 612848 |
HP:0001336 | HP:0010828 | Hemifacial spasm | 2 | SDHD CL E G H | 6392 | 252011 | Mitochondrial complex II deficiency | 252011 | C1855008 | OMIM | 1 | | 686 | 10683 | 602690 |
HP:0001336 | HP:0033054 | Myoclonic tremor | 2 | SDHD CL E G H | 6392 | 252011 | Mitochondrial complex II deficiency | 252011 | C1855008 | OMIM | 1 | | 686 | 10683 | 602690 |
HP:0001336 | HP:0033054 | Myoclonic tremor | 2 | SERPINI1 CL E G H | 5274 | 604218 | Encephalopathy, familial, with neuroserpin inclusion bodies | 604218 | C1858680 | OMIM | 1 | | 310 | 8943 | 602445 |
HP:0001336 | HP:0010828 | Hemifacial spasm | 2 | SERPINI1 CL E G H | 5274 | 604218 | Encephalopathy, familial, with neuroserpin inclusion bodies | 604218 | C1858680 | OMIM | 1 | | 310 | 8943 | 602445 |
HP:0001336 | HP:0010828 | Hemifacial spasm | 2 | SGCE CL E G H | 8910 | 159900 | Myoclonic dystonia | 159900 | C1834570 | OMIM | 1 | | 568 | 10808 | 604149 |
HP:0001336 | HP:0033054 | Myoclonic tremor | 2 | SGCE CL E G H | 8910 | 159900 | Myoclonic dystonia | 159900 | C1834570 | OMIM | 1 | | 568 | 10808 | 604149 |
HP:0001336 | HP:0010828 | Hemifacial spasm | 2 | SIK1 CL E G H | 150094 | 1935 | | | | ORPHA | 1 | | 909 | 11142 | 605705 |
HP:0001336 | HP:0033054 | Myoclonic tremor | 2 | SIK1 CL E G H | 150094 | 1935 | | | | ORPHA | 1 | | 909 | 11142 | 605705 |
HP:0001336 | HP:0033054 | Myoclonic tremor | 2 | SIK1 CL E G H | 150094 | 3451 | Meier Blumberg Imahorn syndrome | | | ORPHA | 1 | | 909 | 11142 | 605705 |
HP:0001336 | HP:0010828 | Hemifacial spasm | 2 | SIK1 CL E G H | 150094 | 3451 | Meier Blumberg Imahorn syndrome | | | ORPHA | 1 | | 909 | 11142 | 605705 |
HP:0001336 | HP:0033054 | Myoclonic tremor | 2 | SLC25A22 CL E G H | 79751 | 1935 | | | | ORPHA | 1 | | 551 | 19954 | 609302 |
HP:0001336 | HP:0010828 | Hemifacial spasm | 2 | SLC25A22 CL E G H | 79751 | 1935 | | | | ORPHA | 1 | | 551 | 19954 | 609302 |
HP:0001336 | HP:0033054 | Myoclonic tremor | 2 | SLC25A46 CL E G H | 91137 | 616505 | NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB | 616505 | C4225302 | OMIM | 1 | | 385 | 25198 | 610826 |
HP:0001336 | HP:0010828 | Hemifacial spasm | 2 | SLC25A46 CL E G H | 91137 | 616505 | NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB | 616505 | C4225302 | OMIM | 1 | | 385 | 25198 | 610826 |
HP:0001336 | HP:0033054 | Myoclonic tremor | 2 | SLC2A1 CL E G H | 6513 | 606777 | GLUT1 deficiency syndrome 1 | 606777 | CN030711 | OMIM | 1 | | 965 | 11005 | 138140 |
HP:0001336 | HP:0010828 | Hemifacial spasm | 2 | SLC2A1 CL E G H | 6513 | 606777 | GLUT1 deficiency syndrome 1 | 606777 | CN030711 | OMIM | 1 | | 965 | 11005 | 138140 |
HP:0001336 | HP:0033054 | Myoclonic tremor | 2 | SLC52A2 CL E G H | 79581 | 97229 | | | | ORPHA | 1 | | 520 | 30224 | 607882 |
HP:0001336 | HP:0010828 | Hemifacial spasm | 2 | SLC52A2 CL E G H | 79581 | 97229 | | | | ORPHA | 1 | | 520 | 30224 | 607882 |
HP:0001336 | HP:0010828 | Hemifacial spasm | 2 | SLC52A3 CL E G H | 113278 | 97229 | | | | ORPHA | 1 | | 464 | 16187 | 613350 |
HP:0001336 | HP:0033054 | Myoclonic tremor | 2 | SLC52A3 CL E G H | 113278 | 97229 | | | | ORPHA | 1 | | 464 | 16187 | 613350 |
HP:0001336 | HP:0010828 | Hemifacial spasm | 2 | SLC6A5 CL E G H | 9152 | 3197 | Lateral body wall defect | | | ORPHA | 1 | | 718 | 11051 | 604159 |
HP:0001336 | HP:0033054 | Myoclonic tremor | 2 | SLC6A5 CL E G H | 9152 | 3197 | Lateral body wall defect | | | ORPHA | 1 | | 718 | 11051 | 604159 |
HP:0001336 | HP:0010828 | Hemifacial spasm | 2 | SNCA CL E G H | 6622 | 171695 | | | | ORPHA | 1 | | 193 | 11138 | 163890 |
HP:0001336 | HP:0033054 | Myoclonic tremor | 2 | SNCA CL E G H | 6622 | 171695 | | | | ORPHA | 1 | | 193 | 11138 | 163890 |
HP:0001336 | HP:0033054 | Myoclonic tremor | 2 | SNCA CL E G H | 6622 | 168601 | Parkinson disease 1 | 168601 | C1868595 | OMIM | 1 | | 193 | 11138 | 163890 |
HP:0001336 | HP:0010828 | Hemifacial spasm | 2 | SNCA CL E G H | 6622 | 168601 | Parkinson disease 1 | 168601 | C1868595 | OMIM | 1 | | 193 | 11138 | 163890 |
HP:0001336 | HP:0033054 | Myoclonic tremor | 2 | SORL1 CL E G H | 6653 | 1020 | | | | ORPHA | 1 | | 537 | 11185 | 602005 |
HP:0001336 | HP:0010828 | Hemifacial spasm | 2 | SORL1 CL E G H | 6653 | 1020 | | | | ORPHA | 1 | | 537 | 11185 | 602005 |
HP:0001336 | HP:0010828 | Hemifacial spasm | 2 | SPTAN1 CL E G H | 6709 | 3451 | Meier Blumberg Imahorn syndrome | | | ORPHA | 1 | | 2267 | 11273 | 182810 |
HP:0001336 | HP:0033054 | Myoclonic tremor | 2 | SPTAN1 CL E G H | 6709 | 3451 | Meier Blumberg Imahorn syndrome | | | ORPHA | 1 | | 2267 | 11273 | 182810 |
HP:0001336 | HP:0033054 | Myoclonic tremor | 2 | ST3GAL3 CL E G H | 6487 | 3451 | Meier Blumberg Imahorn syndrome | | | ORPHA | 1 | | 340 | 10866 | 606494 |
HP:0001336 | HP:0010828 | Hemifacial spasm | 2 | ST3GAL3 CL E G H | 6487 | 3451 | Meier Blumberg Imahorn syndrome | | | ORPHA | 1 | | 340 | 10866 | 606494 |
HP:0001336 | HP:0010828 | Hemifacial spasm | 2 | ST3GAL5 CL E G H | 8869 | 609056 | Amish infantile epilepsy syndrome | 609056 | C1836824 | OMIM | 1 | | 373 | 10872 | 604402 |
HP:0001336 | HP:0033054 | Myoclonic tremor | 2 | ST3GAL5 CL E G H | 8869 | 609056 | Amish infantile epilepsy syndrome | 609056 | C1836824 | OMIM | 1 | | 373 | 10872 | 604402 |
HP:0001336 | HP:0010828 | Hemifacial spasm | 2 | STAMBP CL E G H | 10617 | 614261 | Microcephaly-capillary malformation syndrome | 614261 | C3280296 | OMIM | 1 | | 186 | 16950 | 606247 |
HP:0001336 | HP:0033054 | Myoclonic tremor | 2 | STAMBP CL E G H | 10617 | 614261 | Microcephaly-capillary malformation syndrome | 614261 | C3280296 | OMIM | 1 | | 186 | 16950 | 606247 |
HP:0001336 | HP:0010828 | Hemifacial spasm | 2 | STXBP1 CL E G H | 6812 | 3451 | Meier Blumberg Imahorn syndrome | | | ORPHA | 1 | | 1017 | 11444 | 602926 |
HP:0001336 | HP:0033054 | Myoclonic tremor | 2 | STXBP1 CL E G H | 6812 | 3451 | Meier Blumberg Imahorn syndrome | | | ORPHA | 1 | | 1017 | 11444 | 602926 |
HP:0001336 | HP:0010828 | Hemifacial spasm | 2 | TAF1 CL E G H | 6872 | 53351 | | | | ORPHA | 1 | | 534 | 11535 | 313650 |
HP:0001336 | HP:0033054 | Myoclonic tremor | 2 | TAF1 CL E G H | 6872 | 53351 | | | | ORPHA | 1 | | 534 | 11535 | 313650 |
HP:0001336 | HP:0033054 | Myoclonic tremor | 2 | TAF1 CL E G H | 6872 | 314250 | Dystonia 3, torsion, X-linked | 314250 | C1839130 | OMIM | 1 | | 534 | 11535 | 313650 |
HP:0001336 | HP:0010828 | Hemifacial spasm | 2 | TAF1 CL E G H | 6872 | 314250 | Dystonia 3, torsion, X-linked | 314250 | C1839130 | OMIM | 1 | | 534 | 11535 | 313650 |
HP:0001336 | HP:0033054 | Myoclonic tremor | 2 | TBC1D24 CL E G H | 57465 | 352582 | | | | ORPHA | 1 | | 893 | 29203 | 613577 |
HP:0001336 | HP:0010828 | Hemifacial spasm | 2 | TBC1D24 CL E G H | 57465 | 352596 | | | | ORPHA | 1 | | 893 | 29203 | 613577 |
HP:0001336 | HP:0033054 | Myoclonic tremor | 2 | TBC1D24 CL E G H | 57465 | 352596 | | | | ORPHA | 1 | | 893 | 29203 | 613577 |
HP:0001336 | HP:0010828 | Hemifacial spasm | 2 | TBC1D24 CL E G H | 57465 | 352582 | | | | ORPHA | 1 | | 893 | 29203 | 613577 |
HP:0001336 | HP:0033054 | Myoclonic tremor | 2 | TBC1D24 CL E G H | 57465 | 615338 | Early infantile epileptic encephalopathy 16 | 615338 | C3809173 | OMIM | 1 | | 893 | 29203 | 613577 |
HP:0001336 | HP:0010828 | Hemifacial spasm | 2 | TBC1D24 CL E G H | 57465 | 615338 | Early infantile epileptic encephalopathy 16 | 615338 | C3809173 | OMIM | 1 | | 893 | 29203 | 613577 |
HP:0001336 | HP:0010828 | Hemifacial spasm | 2 | TBP CL E G H | 6908 | 607136 | Spinocerebellar ataxia 17 | 607136 | C1846707 | OMIM | 1 | | 131 | 11588 | 600075 |
HP:0001336 | HP:0033054 | Myoclonic tremor | 2 | TBP CL E G H | 6908 | 607136 | Spinocerebellar ataxia 17 | 607136 | C1846707 | OMIM | 1 | | 131 | 11588 | 600075 |
HP:0001336 | HP:0033054 | Myoclonic tremor | 2 | TH CL E G H | 7054 | 101150 | | | | ORPHA | 1 | | 967 | 11782 | 191290 |
HP:0001336 | HP:0010828 | Hemifacial spasm | 2 | TH CL E G H | 7054 | 101150 | | | | ORPHA | 1 | | 967 | 11782 | 191290 |
HP:0001336 | HP:0033054 | Myoclonic tremor | 2 | TMEM231 CL E G H | 79583 | 2752 | | | | ORPHA | 1 | | 463 | 37234 | 614949 |
HP:0001336 | HP:0010828 | Hemifacial spasm | 2 | TMEM231 CL E G H | 79583 | 2752 | | | | ORPHA | 1 | | 463 | 37234 | 614949 |
HP:0001336 | HP:0033054 | Myoclonic tremor | 2 | TOE1 CL E G H | 114034 | 614969 | Pontocerebellar hypoplasia, type 7 | 614969 | C3554226 | OMIM | 1 | | 272 | 15954 | 613931 |
HP:0001336 | HP:0010828 | Hemifacial spasm | 2 | TOE1 CL E G H | 114034 | 614969 | Pontocerebellar hypoplasia, type 7 | 614969 | C3554226 | OMIM | 1 | | 272 | 15954 | 613931 |
HP:0001336 | HP:0010828 | Hemifacial spasm | 2 | TOMM40 CL E G H | 10452 | 1020 | | | | ORPHA | 1 | | 29 | 18001 | 608061 |
HP:0001336 | HP:0033054 | Myoclonic tremor | 2 | TOMM40 CL E G H | 10452 | 1020 | | | | ORPHA | 1 | | 29 | 18001 | 608061 |
HP:0001336 | HP:0010828 | Hemifacial spasm | 2 | TPP1 CL E G H | 1200 | 204500 | Ceroid lipofuscinosis neuronal 2 | 204500 | C1876161 | OMIM | 1 | | 1023 | 2073 | 607998 |
HP:0001336 | HP:0033054 | Myoclonic tremor | 2 | TPP1 CL E G H | 1200 | 204500 | Ceroid lipofuscinosis neuronal 2 | 204500 | C1876161 | OMIM | 1 | | 1023 | 2073 | 607998 |
HP:0001336 | HP:0010828 | Hemifacial spasm | 2 | TRAK1 CL E G H | 22906 | 618201 | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 68 | 618201 | | OMIM | 1 | | 208 | 29947 | 608112 |
HP:0001336 | HP:0033054 | Myoclonic tremor | 2 | TRAK1 CL E G H | 22906 | 618201 | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 68 | 618201 | | OMIM | 1 | | 208 | 29947 | 608112 |
HP:0001336 | HP:0033054 | Myoclonic tremor | 2 | TRAPPC12 CL E G H | 51112 | 617669 | ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND SPASTICITY | 617669 | C4540059 | OMIM | 1 | | 202 | 24284 | 614139 |
HP:0001336 | HP:0010828 | Hemifacial spasm | 2 | TRAPPC12 CL E G H | 51112 | 617669 | ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND SPASTICITY | 617669 | C4540059 | OMIM | 1 | | 202 | 24284 | 614139 |
HP:0001336 | HP:0033054 | Myoclonic tremor | 2 | TREM2 CL E G H | 54209 | 1020 | | | | ORPHA | 1 | | 154 | 17761 | 605086 |
HP:0001336 | HP:0010828 | Hemifacial spasm | 2 | TREM2 CL E G H | 54209 | 1020 | | | | ORPHA | 1 | | 154 | 17761 | 605086 |
HP:0001336 | HP:0010828 | Hemifacial spasm | 2 | TSEN54 CL E G H | 283989 | 225753 | Pontocerebellar hypoplasia type 4 | 225753 | C1856974 | OMIM | 1 | | 414 | 27561 | 608755 |
HP:0001336 | HP:0033054 | Myoclonic tremor | 2 | TSEN54 CL E G H | 283989 | 225753 | Pontocerebellar hypoplasia type 4 | 225753 | C1856974 | OMIM | 1 | | 414 | 27561 | 608755 |
HP:0001336 | HP:0010828 | Hemifacial spasm | 2 | TSPYL1 CL E G H | 7259 | 168593 | | | | ORPHA | 1 | | 72 | 12382 | 604714 |
HP:0001336 | HP:0033054 | Myoclonic tremor | 2 | TSPYL1 CL E G H | 7259 | 168593 | | | | ORPHA | 1 | | 72 | 12382 | 604714 |
HP:0001336 | HP:0010828 | Hemifacial spasm | 2 | TWNK CL E G H | 56652 | 70595 | | | | ORPHA | 1 | | 450 | 1160 | 606075 |
HP:0001336 | HP:0033054 | Myoclonic tremor | 2 | TWNK CL E G H | 56652 | 70595 | | | | ORPHA | 1 | | 450 | 1160 | 606075 |
HP:0001336 | HP:0010828 | Hemifacial spasm | 2 | TWNK CL E G H | 56652 | 607459 | Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis | 607459 | C1843851 | OMIM | 1 | | 450 | 1160 | 606075 |
HP:0001336 | HP:0033054 | Myoclonic tremor | 2 | TWNK CL E G H | 56652 | 607459 | Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis | 607459 | C1843851 | OMIM | 1 | | 450 | 1160 | 606075 |
HP:0001336 | HP:0033054 | Myoclonic tremor | 2 | TYROBP CL E G H | 7305 | 221770 | Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy | 221770 | C1857316 | OMIM | 1 | | 110 | 12449 | 604142 |
HP:0001336 | HP:0010828 | Hemifacial spasm | 2 | TYROBP CL E G H | 7305 | 221770 | Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy | 221770 | C1857316 | OMIM | 1 | | 110 | 12449 | 604142 |
HP:0001336 | HP:0033054 | Myoclonic tremor | 2 | VPS13D CL E G H | 55187 | 607317 | Spinocerebellar ataxia autosomal recessive 4 | 607317 | C1846492 | OMIM | 1 | | 1034 | 23595 | 608877 |
HP:0001336 | HP:0010828 | Hemifacial spasm | 2 | VPS13D CL E G H | 55187 | 607317 | Spinocerebellar ataxia autosomal recessive 4 | 607317 | C1846492 | OMIM | 1 | | 1034 | 23595 | 608877 |
HP:0001336 | HP:0010828 | Hemifacial spasm | 2 | ZNHIT3 CL E G H | 9326 | 260565 | PEHO syndrome | 260565 | C1850055 | OMIM | 1 | | 136 | 12309 | 604500 |
HP:0001336 | HP:0033054 | Myoclonic tremor | 2 | ZNHIT3 CL E G H | 9326 | 260565 | PEHO syndrome | 260565 | C1850055 | OMIM | 1 | | 136 | 12309 | 604500 |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0001336 | HP:0001336 | Myoclonus | 0 | AARS CL E G H | 16 | 442835 | | | | ORPHA | 0 | | | 20 | 601065 |
HP:0001336 | HP:0001336 | Myoclonus | 0 | ADAR CL E G H | 103 | 225154 | | | | ORPHA | 0 | | 1122 | 225 | 146920 |
HP:0001336 | HP:0001336 | Myoclonus | 0 | ANO3 CL E G H | 63982 | 420485 | | | | ORPHA | 0 | | 477 | 14004 | 610110 |
HP:0001336 | HP:0001336 | Myoclonus | 0 | AP3B2 CL E G H | 8120 | 442835 | | | | ORPHA | 0 | | 690 | 567 | 602166 |
HP:0001336 | HP:0001336 | Myoclonus | 0 | ARV1 CL E G H | 64801 | 442835 | | | | ORPHA | 0 | | 89 | 29561 | 611647 |
HP:0001336 | HP:0001336 | Myoclonus | 0 | ATN1 CL E G H | 1822 | 125370 | Dentatorubral pallidoluysian atrophy | 125370 | C0751781 | OMIM | 0 | | 213 | 3033 | 607462 |
HP:0001336 | HP:0001336 | Myoclonus | 0 | ATP6V1A CL E G H | 523 | 442835 | | | | ORPHA | 0 | | 229 | 851 | 607027 |
HP:0001336 | HP:0001336 | Myoclonus | 0 | BOLA3 CL E G H | 388962 | 614299 | Multiple mitochondrial dysfunctions syndrome 2 | 614299 | C3280378 | OMIM | 0 | | 102 | 24415 | 613183 |
HP:0001336 | HP:0001336 | Myoclonus | 0 | C9orf72 CL E G H | 203228 | 401901 | | | | ORPHA | 0 | | 177 | 28337 | 614260 |
HP:0001336 | HP:0001336 | Myoclonus | 0 | CACNA1A CL E G H | 773 | 442835 | | | | ORPHA | 0 | | 3248 | 1388 | 601011 |
HP:0001336 | HP:0001336 | Myoclonus | 0 | CHD2 CL E G H | 1106 | 1942 | | | | ORPHA | 0 | | 1838 | 1917 | 602119 |
HP:0001336 | HP:0001336 | Myoclonus | 0 | CLTC CL E G H | 1213 | 442835 | | | | ORPHA | 0 | | 645 | 2092 | 118955 |
HP:0001336 | HP:0001336 | Myoclonus | 0 | CNKSR2 CL E G H | 22866 | 442835 | | | | ORPHA | 0 | | 306 | 19701 | 300724 |
HP:0001336 | HP:0001336 | Myoclonus | 0 | COQ8A CL E G H | 56997 | 139485 | | | | ORPHA | 0 | | 699 | 16812 | 606980 |
HP:0001336 | HP:0001336 | Myoclonus | 0 | COQ8A CL E G H | 56997 | 612016 | Coenzyme Q10 deficiency, primary, 4 | 612016 | C2677589 | OMIM | 0 | | 699 | 16812 | 606980 |
HP:0001336 | HP:0001336 | Myoclonus | 0 | CYFIP2 CL E G H | 26999 | 442835 | | | | ORPHA | 0 | | 668 | 13760 | 606323 |
HP:0001336 | HP:0001336 | Myoclonus | 0 | DHDDS CL E G H | 79947 | 442835 | | | | ORPHA | 0 | | 434 | 20603 | 608172 |
HP:0001336 | HP:0001336 | Myoclonus | 0 | DNAJC6 CL E G H | 9829 | 391411 | | | | ORPHA | 0 | | 310 | 15469 | 608375 |
HP:0001336 | HP:0001336 | Myoclonus | 0 | DNM1 CL E G H | 1759 | 442835 | | | | ORPHA | 0 | | 765 | 2972 | 602377 |
HP:0001336 | HP:0001336 | Myoclonus | 0 | EEF1A2 CL E G H | 1917 | 442835 | | | | ORPHA | 0 | | 575 | 3192 | 602959 |
HP:0001336 | HP:0001336 | Myoclonus | 0 | EFHC1 CL E G H | 114327 | 1941 | | | | ORPHA | 0 | | 454 | 16406 | 608815 |
HP:0001336 | HP:0001336 | Myoclonus | 0 | FGF12 CL E G H | 2257 | 442835 | | | | ORPHA | 0 | | 259 | 3668 | 601513 |
HP:0001336 | HP:0001336 | Myoclonus | 0 | GABRB2 CL E G H | 2561 | 442835 | | | | ORPHA | 0 | | 494 | 4082 | 600232 |
HP:0001336 | HP:0001336 | Myoclonus | 0 | GLRX5 CL E G H | 51218 | 401866 | | | | ORPHA | 0 | | 111 | 20134 | 609588 |
HP:0001336 | HP:0001336 | Myoclonus | 0 | GRIA3 CL E G H | 2892 | 300699 | Mental retardation, X-linked, syndromic, wu type | 300699 | C2678051 | OMIM | 0 | | 560 | 4573 | 305915 |
HP:0001336 | HP:0001336 | Myoclonus | 0 | GRIK2 CL E G H | 2898 | 611092 | Mental retardation, autosomal recessive 6 | 611092 | C1970198 | OMIM | 0 | | 189 | 4580 | 138244 |
HP:0001336 | HP:0001336 | Myoclonus | 0 | GRIN2D CL E G H | 2906 | 442835 | | | | ORPHA | 0 | | 823 | 4588 | 602717 |
HP:0001336 | HP:0001336 | Myoclonus | 0 | HCN1 CL E G H | 348980 | 442835 | | | | ORPHA | 0 | | 796 | 4845 | 602780 |
HP:0001336 | HP:0001336 | Myoclonus | 0 | HTT CL E G H | 3064 | 248111 | | | | ORPHA | 0 | | 760 | 4851 | 613004 |
HP:0001336 | HP:0001336 | Myoclonus | 0 | KCNA2 CL E G H | 3737 | 442835 | | | | ORPHA | 0 | | 401 | 6220 | 176262 |
HP:0001336 | HP:0001336 | Myoclonus | 0 | KCNB1 CL E G H | 3745 | 442835 | | | | ORPHA | 0 | | 635 | 6231 | 600397 |
HP:0001336 | HP:0001336 | Myoclonus | 0 | KCNC3 CL E G H | 3748 | 98768 | | | | ORPHA | 0 | | 311 | 6235 | 176264 |
HP:0001336 | HP:0001336 | Myoclonus | 0 | KMT2B CL E G H | 9757 | 617284 | Dystonia 28, childhood-onset | 617284 | C4310633 | OMIM | 0 | | 1303 | 15840 | 606834 |
HP:0001336 | HP:0001336 | Myoclonus | 0 | MRE11 CL E G H | 4361 | 251347 | | | | ORPHA | 0 | | 1911 | 7230 | 600814 |
HP:0001336 | HP:0001336 | Myoclonus | 0 | MT-ATP6 CL E G H | 4508 | 225154 | | | | ORPHA | 0 | | | 7414 | 516060 |
HP:0001336 | HP:0001336 | Myoclonus | 0 | NECAP1 CL E G H | 25977 | 442835 | | | | ORPHA | 0 | | 221 | 24539 | 611623 |
HP:0001336 | HP:0001336 | Myoclonus | 0 | NTRK2 CL E G H | 4915 | 442835 | | | | ORPHA | 0 | | 509 | 8032 | 600456 |
HP:0001336 | HP:0001336 | Myoclonus | 0 | NUP62 CL E G H | 23636 | 225154 | | | | ORPHA | 0 | | 161 | 8066 | 605815 |
HP:0001336 | HP:0001336 | Myoclonus | 0 | NUS1 CL E G H | 116150 | 442835 | | | | ORPHA | 0 | | 326 | 21042 | 610463 |
HP:0001336 | HP:0001336 | Myoclonus | 0 | PLA2G6 CL E G H | 8398 | 199351 | | | | ORPHA | 0 | | 775 | 9039 | 603604 |
HP:0001336 | HP:0001336 | Myoclonus | 0 | PODXL CL E G H | 5420 | 391411 | | | | ORPHA | 0 | | 200 | 9171 | 602632 |
HP:0001336 | HP:0001336 | Myoclonus | 0 | PPP3CA CL E G H | 5530 | 442835 | | | | ORPHA | 0 | | 351 | 9314 | 114105 |
HP:0001336 | HP:0001336 | Myoclonus | 0 | PRKCG CL E G H | 5582 | 98763 | | | | ORPHA | 0 | | 323 | 9402 | 176980 |
HP:0001336 | HP:0001336 | Myoclonus | 0 | PTS CL E G H | 5805 | 13 | Brain malformation | | C0266449 | ORPHA | 0 | | 263 | 9689 | 612719 |
HP:0001336 | HP:0001336 | Myoclonus | 0 | RMND1 CL E G H | 55005 | 614922 | Combined oxidative phosphorylation deficiency 11 | 614922 | C3554067 | OMIM | 0 | | 262 | 21176 | 614917 |
HP:0001336 | HP:0001336 | Myoclonus | 0 | SCN3A CL E G H | 6328 | 442835 | | | | ORPHA | 0 | | 1420 | 10590 | 182391 |
HP:0001336 | HP:0001336 | Myoclonus | 0 | SCN8A CL E G H | 6334 | 442835 | | | | ORPHA | 0 | | 1799 | 10596 | 600702 |
HP:0001336 | HP:0001336 | Myoclonus | 0 | SLC13A5 CL E G H | 284111 | 442835 | | | | ORPHA | 0 | | 685 | 23089 | 608305 |
HP:0001336 | HP:0001336 | Myoclonus | 0 | SLC1A2 CL E G H | 6506 | 442835 | | | | ORPHA | 0 | | 359 | 10940 | 600300 |
HP:0001336 | HP:0001336 | Myoclonus | 0 | SLC2A1 CL E G H | 6513 | 71277 | | | | ORPHA | 0 | | 965 | 11005 | 138140 |
HP:0001336 | HP:0001336 | Myoclonus | 0 | SLC6A1 CL E G H | 6529 | 1942 | | | | ORPHA | 0 | | 809 | 11042 | 137165 |
HP:0001336 | HP:0001336 | Myoclonus | 0 | STXBP1 CL E G H | 6812 | 442835 | | | | ORPHA | 0 | | 1017 | 11444 | 602926 |
HP:0001336 | HP:0001336 | Myoclonus | 0 | SYNGAP1 CL E G H | 8831 | 442835 | | | | ORPHA | 0 | | 1335 | 11497 | 603384 |
HP:0001336 | HP:0001336 | Myoclonus | 0 | SYNJ1 CL E G H | 8867 | 442835 | | | | ORPHA | 0 | | 1315 | 11503 | 604297 |
HP:0001336 | HP:0001336 | Myoclonus | 0 | SYNJ1 CL E G H | 8867 | 391411 | | | | ORPHA | 0 | | 1315 | 11503 | 604297 |
HP:0001336 | HP:0001336 | Myoclonus | 0 | SZT2 CL E G H | 23334 | 442835 | | | | ORPHA | 0 | | 2862 | 29040 | 615463 |
HP:0001336 | HP:0001336 | Myoclonus | 0 | TBC1D24 CL E G H | 57465 | 79500 | | | | ORPHA | 0 | | 893 | 29203 | 613577 |
HP:0001336 | HP:0001336 | Myoclonus | 0 | TH CL E G H | 7054 | 605407 | Segawa syndrome, autosomal recessive | 605407 | C1854299 | OMIM | 0 | | 967 | 11782 | 191290 |
HP:0001336 | HP:0001336 | Myoclonus | 0 | THAP1 CL E G H | 55145 | 602629 | Dystonia 6, torsion | 602629 | C1414216 | OMIM | 0 | | 206 | 20856 | 609520 |
HP:0001336 | HP:0001336 | Myoclonus | 0 | TRAK1 CL E G H | 22906 | 442835 | | | | ORPHA | 0 | | 208 | 29947 | 608112 |
HP:0001336 | HP:0001336 | Myoclonus | 0 | UBA5 CL E G H | 79876 | 442835 | | | | ORPHA | 0 | | 223 | 23230 | 610552 |
HP:0001336 | HP:0001336 | Myoclonus | 0 | WWOX CL E G H | 51741 | 442835 | | | | ORPHA | 0 | | 1102 | 12799 | 605131 |
HP:0001336 | HP:0001336 | Myoclonus | 0 | YWHAG CL E G H | 7532 | 442835 | | | | ORPHA | 0 | | 189 | 12852 | 605356 |
HP:0001336 | HP:0045084 | Limb myoclonus | 1 | AARS CL E G H | 16 | 442835 | | | | ORPHA | 0 | | | 20 | 601065 |
HP:0001336 | HP:0010530 | Palatal myoclonus | 1 | AARS CL E G H | 16 | 442835 | | | | ORPHA | 0 | | | 20 | 601065 |
HP:0001336 | HP:0040148 | Cortical myoclonus | 1 | AARS CL E G H | 16 | 442835 | | | | ORPHA | 0 | | | 20 | 601065 |
HP:0001336 | HP:0025097 | Eyelid myoclonus | 1 | AARS CL E G H | 16 | 442835 | | | | ORPHA | 0 | | | 20 | 601065 |
HP:0001336 | HP:0010531 | Spinal myoclonus | 1 | AARS CL E G H | 16 | 442835 | | | | ORPHA | 0 | | | 20 | 601065 |
HP:0001336 | HP:0012462 | Chin myoclonus | 1 | AARS CL E G H | 16 | 442835 | | | | ORPHA | 0 | | | 20 | 601065 |
HP:0001336 | HP:0003739 | Myoclonic spasms | 1 | AARS CL E G H | 16 | 442835 | | | | ORPHA | 0 | | | 20 | 601065 |
HP:0001336 | HP:0012323 | Sleep myoclonus | 1 | AARS CL E G H | 16 | 442835 | | | | ORPHA | 0 | | | 20 | 601065 |
HP:0001336 | HP:0025357 | Erratic myoclonus | 1 | AARS CL E G H | 16 | 442835 | | | | ORPHA | 0 | | | 20 | 601065 |
HP:0001336 | HP:0007000 | Morning myoclonic jerks | 1 | AARS CL E G H | 16 | 442835 | | | | ORPHA | 0 | | | 20 | 601065 |
HP:0001336 | HP:0031986 | Polyminimyoclonus | 1 | AARS CL E G H | 16 | 442835 | | | | ORPHA | 0 | | | 20 | 601065 |
HP:0001336 | HP:0012462 | Chin myoclonus | 1 | ADAR CL E G H | 103 | 225154 | | | | ORPHA | 0 | | 1122 | 225 | 146920 |
HP:0001336 | HP:0025097 | Eyelid myoclonus | 1 | ADAR CL E G H | 103 | 225154 | | | | ORPHA | 0 | | 1122 | 225 | 146920 |
HP:0001336 | HP:0010531 | Spinal myoclonus | 1 | ADAR CL E G H | 103 | 225154 | | | | ORPHA | 0 | | 1122 | 225 | 146920 |
HP:0001336 | HP:0025357 | Erratic myoclonus | 1 | ADAR CL E G H | 103 | 225154 | | | | ORPHA | 0 | | 1122 | 225 | 146920 |
HP:0001336 | HP:0003739 | Myoclonic spasms | 1 | ADAR CL E G H | 103 | 225154 | | | | ORPHA | 0 | | 1122 | 225 | 146920 |
HP:0001336 | HP:0012323 | Sleep myoclonus | 1 | ADAR CL E G H | 103 | 225154 | | | | ORPHA | 0 | | 1122 | 225 | 146920 |
HP:0001336 | HP:0007000 | Morning myoclonic jerks | 1 | ADAR CL E G H | 103 | 225154 | | | | ORPHA | 0 | | 1122 | 225 | 146920 |
HP:0001336 | HP:0031986 | Polyminimyoclonus | 1 | ADAR CL E G H | 103 | 225154 | | | | ORPHA | 0 | | 1122 | 225 | 146920 |
HP:0001336 | HP:0040148 | Cortical myoclonus | 1 | ADAR CL E G H | 103 | 225154 | | | | ORPHA | 0 | | 1122 | 225 | 146920 |
HP:0001336 | HP:0045084 | Limb myoclonus | 1 | ADAR CL E G H | 103 | 225154 | | | | ORPHA | 0 | | 1122 | 225 | 146920 |
HP:0001336 | HP:0010530 | Palatal myoclonus | 1 | ADAR CL E G H | 103 | 225154 | | | | ORPHA | 0 | | 1122 | 225 | 146920 |
HP:0001336 | HP:0040148 | Cortical myoclonus | 1 | ANO3 CL E G H | 63982 | 420485 | | | | ORPHA | 0 | | 477 | 14004 | 610110 |
HP:0001336 | HP:0045084 | Limb myoclonus | 1 | ANO3 CL E G H | 63982 | 420485 | | | | ORPHA | 0 | | 477 | 14004 | 610110 |
HP:0001336 | HP:0010530 | Palatal myoclonus | 1 | ANO3 CL E G H | 63982 | 420485 | | | | ORPHA | 0 | | 477 | 14004 | 610110 |
HP:0001336 | HP:0012462 | Chin myoclonus | 1 | ANO3 CL E G H | 63982 | 420485 | | | | ORPHA | 0 | | 477 | 14004 | 610110 |
HP:0001336 | HP:0025097 | Eyelid myoclonus | 1 | ANO3 CL E G H | 63982 | 420485 | | | | ORPHA | 0 | | 477 | 14004 | 610110 |
HP:0001336 | HP:0010531 | Spinal myoclonus | 1 | ANO3 CL E G H | 63982 | 420485 | | | | ORPHA | 0 | | 477 | 14004 | 610110 |
HP:0001336 | HP:0025357 | Erratic myoclonus | 1 | ANO3 CL E G H | 63982 | 420485 | | | | ORPHA | 0 | | 477 | 14004 | 610110 |
HP:0001336 | HP:0003739 | Myoclonic spasms | 1 | ANO3 CL E G H | 63982 | 420485 | | | | ORPHA | 0 | | 477 | 14004 | 610110 |
HP:0001336 | HP:0012323 | Sleep myoclonus | 1 | ANO3 CL E G H | 63982 | 420485 | | | | ORPHA | 0 | | 477 | 14004 | 610110 |
HP:0001336 | HP:0007000 | Morning myoclonic jerks | 1 | ANO3 CL E G H | 63982 | 420485 | | | | ORPHA | 0 | | 477 | 14004 | 610110 |
HP:0001336 | HP:0031986 | Polyminimyoclonus | 1 | ANO3 CL E G H | 63982 | 420485 | | | | ORPHA | 0 | | 477 | 14004 | 610110 |
HP:0001336 | HP:0012323 | Sleep myoclonus | 1 | AP3B2 CL E G H | 8120 | 442835 | | | | ORPHA | 0 | | 690 | 567 | 602166 |
HP:0001336 | HP:0025357 | Erratic myoclonus | 1 | AP3B2 CL E G H | 8120 | 442835 | | | | ORPHA | 0 | | 690 | 567 | 602166 |
HP:0001336 | HP:0003739 | Myoclonic spasms | 1 | AP3B2 CL E G H | 8120 | 442835 | | | | ORPHA | 0 | | 690 | 567 | 602166 |
HP:0001336 | HP:0031986 | Polyminimyoclonus | 1 | AP3B2 CL E G H | 8120 | 442835 | | | | ORPHA | 0 | | 690 | 567 | 602166 |
HP:0001336 | HP:0007000 | Morning myoclonic jerks | 1 | AP3B2 CL E G H | 8120 | 442835 | | | | ORPHA | 0 | | 690 | 567 | 602166 |
HP:0001336 | HP:0010530 | Palatal myoclonus | 1 | AP3B2 CL E G H | 8120 | 442835 | | | | ORPHA | 0 | | 690 | 567 | 602166 |
HP:0001336 | HP:0040148 | Cortical myoclonus | 1 | AP3B2 CL E G H | 8120 | 442835 | | | | ORPHA | 0 | | 690 | 567 | 602166 |
HP:0001336 | HP:0045084 | Limb myoclonus | 1 | AP3B2 CL E G H | 8120 | 442835 | | | | ORPHA | 0 | | 690 | 567 | 602166 |
HP:0001336 | HP:0010531 | Spinal myoclonus | 1 | AP3B2 CL E G H | 8120 | 442835 | | | | ORPHA | 0 | | 690 | 567 | 602166 |
HP:0001336 | HP:0012462 | Chin myoclonus | 1 | AP3B2 CL E G H | 8120 | 442835 | | | | ORPHA | 0 | | 690 | 567 | 602166 |
HP:0001336 | HP:0025097 | Eyelid myoclonus | 1 | AP3B2 CL E G H | 8120 | 442835 | | | | ORPHA | 0 | | 690 | 567 | 602166 |
HP:0001336 | HP:0040148 | Cortical myoclonus | 1 | ARV1 CL E G H | 64801 | 442835 | | | | ORPHA | 0 | | 89 | 29561 | 611647 |
HP:0001336 | HP:0045084 | Limb myoclonus | 1 | ARV1 CL E G H | 64801 | 442835 | | | | ORPHA | 0 | | 89 | 29561 | 611647 |
HP:0001336 | HP:0010530 | Palatal myoclonus | 1 | ARV1 CL E G H | 64801 | 442835 | | | | ORPHA | 0 | | 89 | 29561 | 611647 |
HP:0001336 | HP:0012462 | Chin myoclonus | 1 | ARV1 CL E G H | 64801 | 442835 | | | | ORPHA | 0 | | 89 | 29561 | 611647 |
HP:0001336 | HP:0025097 | Eyelid myoclonus | 1 | ARV1 CL E G H | 64801 | 442835 | | | | ORPHA | 0 | | 89 | 29561 | 611647 |
HP:0001336 | HP:0010531 | Spinal myoclonus | 1 | ARV1 CL E G H | 64801 | 442835 | | | | ORPHA | 0 | | 89 | 29561 | 611647 |
HP:0001336 | HP:0025357 | Erratic myoclonus | 1 | ARV1 CL E G H | 64801 | 442835 | | | | ORPHA | 0 | | 89 | 29561 | 611647 |
HP:0001336 | HP:0003739 | Myoclonic spasms | 1 | ARV1 CL E G H | 64801 | 442835 | | | | ORPHA | 0 | | 89 | 29561 | 611647 |
HP:0001336 | HP:0012323 | Sleep myoclonus | 1 | ARV1 CL E G H | 64801 | 442835 | | | | ORPHA | 0 | | 89 | 29561 | 611647 |
HP:0001336 | HP:0007000 | Morning myoclonic jerks | 1 | ARV1 CL E G H | 64801 | 442835 | | | | ORPHA | 0 | | 89 | 29561 | 611647 |
HP:0001336 | HP:0031986 | Polyminimyoclonus | 1 | ARV1 CL E G H | 64801 | 442835 | | | | ORPHA | 0 | | 89 | 29561 | 611647 |
HP:0001336 | HP:0012462 | Chin myoclonus | 1 | ATN1 CL E G H | 1822 | 125370 | Dentatorubral pallidoluysian atrophy | 125370 | C0751781 | OMIM | 0 | | 213 | 3033 | 607462 |
HP:0001336 | HP:0025097 | Eyelid myoclonus | 1 | ATN1 CL E G H | 1822 | 125370 | Dentatorubral pallidoluysian atrophy | 125370 | C0751781 | OMIM | 0 | | 213 | 3033 | 607462 |
HP:0001336 | HP:0010531 | Spinal myoclonus | 1 | ATN1 CL E G H | 1822 | 125370 | Dentatorubral pallidoluysian atrophy | 125370 | C0751781 | OMIM | 0 | | 213 | 3033 | 607462 |
HP:0001336 | HP:0025357 | Erratic myoclonus | 1 | ATN1 CL E G H | 1822 | 125370 | Dentatorubral pallidoluysian atrophy | 125370 | C0751781 | OMIM | 0 | | 213 | 3033 | 607462 |
HP:0001336 | HP:0003739 | Myoclonic spasms | 1 | ATN1 CL E G H | 1822 | 125370 | Dentatorubral pallidoluysian atrophy | 125370 | C0751781 | OMIM | 0 | | 213 | 3033 | 607462 |
HP:0001336 | HP:0012323 | Sleep myoclonus | 1 | ATN1 CL E G H | 1822 | 125370 | Dentatorubral pallidoluysian atrophy | 125370 | C0751781 | OMIM | 0 | | 213 | 3033 | 607462 |
HP:0001336 | HP:0007000 | Morning myoclonic jerks | 1 | ATN1 CL E G H | 1822 | 125370 | Dentatorubral pallidoluysian atrophy | 125370 | C0751781 | OMIM | 0 | | 213 | 3033 | 607462 |
HP:0001336 | HP:0031986 | Polyminimyoclonus | 1 | ATN1 CL E G H | 1822 | 125370 | Dentatorubral pallidoluysian atrophy | 125370 | C0751781 | OMIM | 0 | | 213 | 3033 | 607462 |
HP:0001336 | HP:0040148 | Cortical myoclonus | 1 | ATN1 CL E G H | 1822 | 125370 | Dentatorubral pallidoluysian atrophy | 125370 | C0751781 | OMIM | 0 | | 213 | 3033 | 607462 |
HP:0001336 | HP:0045084 | Limb myoclonus | 1 | ATN1 CL E G H | 1822 | 125370 | Dentatorubral pallidoluysian atrophy | 125370 | C0751781 | OMIM | 0 | | 213 | 3033 | 607462 |
HP:0001336 | HP:0010530 | Palatal myoclonus | 1 | ATN1 CL E G H | 1822 | 125370 | Dentatorubral pallidoluysian atrophy | 125370 | C0751781 | OMIM | 0 | | 213 | 3033 | 607462 |
HP:0001336 | HP:0025357 | Erratic myoclonus | 1 | ATP6V1A CL E G H | 523 | 442835 | | | | ORPHA | 0 | | 229 | 851 | 607027 |
HP:0001336 | HP:0003739 | Myoclonic spasms | 1 | ATP6V1A CL E G H | 523 | 442835 | | | | ORPHA | 0 | | 229 | 851 | 607027 |
HP:0001336 | HP:0012323 | Sleep myoclonus | 1 | ATP6V1A CL E G H | 523 | 442835 | | | | ORPHA | 0 | | 229 | 851 | 607027 |
HP:0001336 | HP:0007000 | Morning myoclonic jerks | 1 | ATP6V1A CL E G H | 523 | 442835 | | | | ORPHA | 0 | | 229 | 851 | 607027 |
HP:0001336 | HP:0031986 | Polyminimyoclonus | 1 | ATP6V1A CL E G H | 523 | 442835 | | | | ORPHA | 0 | | 229 | 851 | 607027 |
HP:0001336 | HP:0040148 | Cortical myoclonus | 1 | ATP6V1A CL E G H | 523 | 442835 | | | | ORPHA | 0 | | 229 | 851 | 607027 |
HP:0001336 | HP:0045084 | Limb myoclonus | 1 | ATP6V1A CL E G H | 523 | 442835 | | | | ORPHA | 0 | | 229 | 851 | 607027 |
HP:0001336 | HP:0010530 | Palatal myoclonus | 1 | ATP6V1A CL E G H | 523 | 442835 | | | | ORPHA | 0 | | 229 | 851 | 607027 |
HP:0001336 | HP:0012462 | Chin myoclonus | 1 | ATP6V1A CL E G H | 523 | 442835 | | | | ORPHA | 0 | | 229 | 851 | 607027 |
HP:0001336 | HP:0025097 | Eyelid myoclonus | 1 | ATP6V1A CL E G H | 523 | 442835 | | | | ORPHA | 0 | | 229 | 851 | 607027 |
HP:0001336 | HP:0010531 | Spinal myoclonus | 1 | ATP6V1A CL E G H | 523 | 442835 | | | | ORPHA | 0 | | 229 | 851 | 607027 |
HP:0001336 | HP:0007000 | Morning myoclonic jerks | 1 | BOLA3 CL E G H | 388962 | 614299 | Multiple mitochondrial dysfunctions syndrome 2 | 614299 | C3280378 | OMIM | 0 | | 102 | 24415 | 613183 |
HP:0001336 | HP:0031986 | Polyminimyoclonus | 1 | BOLA3 CL E G H | 388962 | 614299 | Multiple mitochondrial dysfunctions syndrome 2 | 614299 | C3280378 | OMIM | 0 | | 102 | 24415 | 613183 |
HP:0001336 | HP:0040148 | Cortical myoclonus | 1 | BOLA3 CL E G H | 388962 | 614299 | Multiple mitochondrial dysfunctions syndrome 2 | 614299 | C3280378 | OMIM | 0 | | 102 | 24415 | 613183 |
HP:0001336 | HP:0045084 | Limb myoclonus | 1 | BOLA3 CL E G H | 388962 | 614299 | Multiple mitochondrial dysfunctions syndrome 2 | 614299 | C3280378 | OMIM | 0 | | 102 | 24415 | 613183 |
HP:0001336 | HP:0010530 | Palatal myoclonus | 1 | BOLA3 CL E G H | 388962 | 614299 | Multiple mitochondrial dysfunctions syndrome 2 | 614299 | C3280378 | OMIM | 0 | | 102 | 24415 | 613183 |
HP:0001336 | HP:0012462 | Chin myoclonus | 1 | BOLA3 CL E G H | 388962 | 614299 | Multiple mitochondrial dysfunctions syndrome 2 | 614299 | C3280378 | OMIM | 0 | | 102 | 24415 | 613183 |
HP:0001336 | HP:0025097 | Eyelid myoclonus | 1 | BOLA3 CL E G H | 388962 | 614299 | Multiple mitochondrial dysfunctions syndrome 2 | 614299 | C3280378 | OMIM | 0 | | 102 | 24415 | 613183 |
HP:0001336 | HP:0010531 | Spinal myoclonus | 1 | BOLA3 CL E G H | 388962 | 614299 | Multiple mitochondrial dysfunctions syndrome 2 | 614299 | C3280378 | OMIM | 0 | | 102 | 24415 | 613183 |
HP:0001336 | HP:0025357 | Erratic myoclonus | 1 | BOLA3 CL E G H | 388962 | 614299 | Multiple mitochondrial dysfunctions syndrome 2 | 614299 | C3280378 | OMIM | 0 | | 102 | 24415 | 613183 |
HP:0001336 | HP:0003739 | Myoclonic spasms | 1 | BOLA3 CL E G H | 388962 | 614299 | Multiple mitochondrial dysfunctions syndrome 2 | 614299 | C3280378 | OMIM | 0 | | 102 | 24415 | 613183 |
HP:0001336 | HP:0012323 | Sleep myoclonus | 1 | BOLA3 CL E G H | 388962 | 614299 | Multiple mitochondrial dysfunctions syndrome 2 | 614299 | C3280378 | OMIM | 0 | | 102 | 24415 | 613183 |
HP:0001336 | HP:0012323 | Sleep myoclonus | 1 | C9orf72 CL E G H | 203228 | 401901 | | | | ORPHA | 0 | | 177 | 28337 | 614260 |
HP:0001336 | HP:0025357 | Erratic myoclonus | 1 | C9orf72 CL E G H | 203228 | 401901 | | | | ORPHA | 0 | | 177 | 28337 | 614260 |
HP:0001336 | HP:0003739 | Myoclonic spasms | 1 | C9orf72 CL E G H | 203228 | 401901 | | | | ORPHA | 0 | | 177 | 28337 | 614260 |
HP:0001336 | HP:0031986 | Polyminimyoclonus | 1 | C9orf72 CL E G H | 203228 | 401901 | | | | ORPHA | 0 | | 177 | 28337 | 614260 |
HP:0001336 | HP:0007000 | Morning myoclonic jerks | 1 | C9orf72 CL E G H | 203228 | 401901 | | | | ORPHA | 0 | | 177 | 28337 | 614260 |
HP:0001336 | HP:0010530 | Palatal myoclonus | 1 | C9orf72 CL E G H | 203228 | 401901 | | | | ORPHA | 0 | | 177 | 28337 | 614260 |
HP:0001336 | HP:0040148 | Cortical myoclonus | 1 | C9orf72 CL E G H | 203228 | 401901 | | | | ORPHA | 0 | | 177 | 28337 | 614260 |
HP:0001336 | HP:0045084 | Limb myoclonus | 1 | C9orf72 CL E G H | 203228 | 401901 | | | | ORPHA | 0 | | 177 | 28337 | 614260 |
HP:0001336 | HP:0010531 | Spinal myoclonus | 1 | C9orf72 CL E G H | 203228 | 401901 | | | | ORPHA | 0 | | 177 | 28337 | 614260 |
HP:0001336 | HP:0012462 | Chin myoclonus | 1 | C9orf72 CL E G H | 203228 | 401901 | | | | ORPHA | 0 | | 177 | 28337 | 614260 |
HP:0001336 | HP:0025097 | Eyelid myoclonus | 1 | C9orf72 CL E G H | 203228 | 401901 | | | | ORPHA | 0 | | 177 | 28337 | 614260 |
HP:0001336 | HP:0045084 | Limb myoclonus | 1 | CACNA1A CL E G H | 773 | 442835 | | | | ORPHA | 0 | | 3248 | 1388 | 601011 |
HP:0001336 | HP:0010530 | Palatal myoclonus | 1 | CACNA1A CL E G H | 773 | 442835 | | | | ORPHA | 0 | | 3248 | 1388 | 601011 |
HP:0001336 | HP:0040148 | Cortical myoclonus | 1 | CACNA1A CL E G H | 773 | 442835 | | | | ORPHA | 0 | | 3248 | 1388 | 601011 |
HP:0001336 | HP:0025097 | Eyelid myoclonus | 1 | CACNA1A CL E G H | 773 | 442835 | | | | ORPHA | 0 | | 3248 | 1388 | 601011 |
HP:0001336 | HP:0010531 | Spinal myoclonus | 1 | CACNA1A CL E G H | 773 | 442835 | | | | ORPHA | 0 | | 3248 | 1388 | 601011 |
HP:0001336 | HP:0012462 | Chin myoclonus | 1 | CACNA1A CL E G H | 773 | 442835 | | | | ORPHA | 0 | | 3248 | 1388 | 601011 |
HP:0001336 | HP:0003739 | Myoclonic spasms | 1 | CACNA1A CL E G H | 773 | 442835 | | | | ORPHA | 0 | | 3248 | 1388 | 601011 |
HP:0001336 | HP:0012323 | Sleep myoclonus | 1 | CACNA1A CL E G H | 773 | 442835 | | | | ORPHA | 0 | | 3248 | 1388 | 601011 |
HP:0001336 | HP:0025357 | Erratic myoclonus | 1 | CACNA1A CL E G H | 773 | 442835 | | | | ORPHA | 0 | | 3248 | 1388 | 601011 |
HP:0001336 | HP:0007000 | Morning myoclonic jerks | 1 | CACNA1A CL E G H | 773 | 442835 | | | | ORPHA | 0 | | 3248 | 1388 | 601011 |
HP:0001336 | HP:0031986 | Polyminimyoclonus | 1 | CACNA1A CL E G H | 773 | 442835 | | | | ORPHA | 0 | | 3248 | 1388 | 601011 |
HP:0001336 | HP:0003739 | Myoclonic spasms | 1 | CHD2 CL E G H | 1106 | 1942 | | | | ORPHA | 0 | | 1838 | 1917 | 602119 |
HP:0001336 | HP:0012323 | Sleep myoclonus | 1 | CHD2 CL E G H | 1106 | 1942 | | | | ORPHA | 0 | | 1838 | 1917 | 602119 |
HP:0001336 | HP:0025357 | Erratic myoclonus | 1 | CHD2 CL E G H | 1106 | 1942 | | | | ORPHA | 0 | | 1838 | 1917 | 602119 |
HP:0001336 | HP:0031986 | Polyminimyoclonus | 1 | CHD2 CL E G H | 1106 | 1942 | | | | ORPHA | 0 | | 1838 | 1917 | 602119 |
HP:0001336 | HP:0007000 | Morning myoclonic jerks | 1 | CHD2 CL E G H | 1106 | 1942 | | | | ORPHA | 0 | | 1838 | 1917 | 602119 |
HP:0001336 | HP:0010530 | Palatal myoclonus | 1 | CHD2 CL E G H | 1106 | 1942 | | | | ORPHA | 0 | | 1838 | 1917 | 602119 |
HP:0001336 | HP:0040148 | Cortical myoclonus | 1 | CHD2 CL E G H | 1106 | 1942 | | | | ORPHA | 0 | | 1838 | 1917 | 602119 |
HP:0001336 | HP:0045084 | Limb myoclonus | 1 | CHD2 CL E G H | 1106 | 1942 | | | | ORPHA | 0 | | 1838 | 1917 | 602119 |
HP:0001336 | HP:0010531 | Spinal myoclonus | 1 | CHD2 CL E G H | 1106 | 1942 | | | | ORPHA | 0 | | 1838 | 1917 | 602119 |
HP:0001336 | HP:0012462 | Chin myoclonus | 1 | CHD2 CL E G H | 1106 | 1942 | | | | ORPHA | 0 | | 1838 | 1917 | 602119 |
HP:0001336 | HP:0025097 | Eyelid myoclonus | 1 | CHD2 CL E G H | 1106 | 1942 | | | | ORPHA | 0 | | 1838 | 1917 | 602119 |
HP:0001336 | HP:0012323 | Sleep myoclonus | 1 | CLTC CL E G H | 1213 | 442835 | | | | ORPHA | 0 | | 645 | 2092 | 118955 |
HP:0001336 | HP:0025357 | Erratic myoclonus | 1 | CLTC CL E G H | 1213 | 442835 | | | | ORPHA | 0 | | 645 | 2092 | 118955 |
HP:0001336 | HP:0003739 | Myoclonic spasms | 1 | CLTC CL E G H | 1213 | 442835 | | | | ORPHA | 0 | | 645 | 2092 | 118955 |
HP:0001336 | HP:0031986 | Polyminimyoclonus | 1 | CLTC CL E G H | 1213 | 442835 | | | | ORPHA | 0 | | 645 | 2092 | 118955 |
HP:0001336 | HP:0007000 | Morning myoclonic jerks | 1 | CLTC CL E G H | 1213 | 442835 | | | | ORPHA | 0 | | 645 | 2092 | 118955 |
HP:0001336 | HP:0010530 | Palatal myoclonus | 1 | CLTC CL E G H | 1213 | 442835 | | | | ORPHA | 0 | | 645 | 2092 | 118955 |
HP:0001336 | HP:0040148 | Cortical myoclonus | 1 | CLTC CL E G H | 1213 | 442835 | | | | ORPHA | 0 | | 645 | 2092 | 118955 |
HP:0001336 | HP:0045084 | Limb myoclonus | 1 | CLTC CL E G H | 1213 | 442835 | | | | ORPHA | 0 | | 645 | 2092 | 118955 |
HP:0001336 | HP:0010531 | Spinal myoclonus | 1 | CLTC CL E G H | 1213 | 442835 | | | | ORPHA | 0 | | 645 | 2092 | 118955 |
HP:0001336 | HP:0012462 | Chin myoclonus | 1 | CLTC CL E G H | 1213 | 442835 | | | | ORPHA | 0 | | 645 | 2092 | 118955 |
HP:0001336 | HP:0025097 | Eyelid myoclonus | 1 | CLTC CL E G H | 1213 | 442835 | | | | ORPHA | 0 | | 645 | 2092 | 118955 |
HP:0001336 | HP:0040148 | Cortical myoclonus | 1 | CNKSR2 CL E G H | 22866 | 442835 | | | | ORPHA | 0 | | 306 | 19701 | 300724 |
HP:0001336 | HP:0045084 | Limb myoclonus | 1 | CNKSR2 CL E G H | 22866 | 442835 | | | | ORPHA | 0 | | 306 | 19701 | 300724 |
HP:0001336 | HP:0010530 | Palatal myoclonus | 1 | CNKSR2 CL E G H | 22866 | 442835 | | | | ORPHA | 0 | | 306 | 19701 | 300724 |
HP:0001336 | HP:0012462 | Chin myoclonus | 1 | CNKSR2 CL E G H | 22866 | 442835 | | | | ORPHA | 0 | | 306 | 19701 | 300724 |
HP:0001336 | HP:0025097 | Eyelid myoclonus | 1 | CNKSR2 CL E G H | 22866 | 442835 | | | | ORPHA | 0 | | 306 | 19701 | 300724 |
HP:0001336 | HP:0010531 | Spinal myoclonus | 1 | CNKSR2 CL E G H | 22866 | 442835 | | | | ORPHA | 0 | | 306 | 19701 | 300724 |
HP:0001336 | HP:0025357 | Erratic myoclonus | 1 | CNKSR2 CL E G H | 22866 | 442835 | | | | ORPHA | 0 | | 306 | 19701 | 300724 |
HP:0001336 | HP:0003739 | Myoclonic spasms | 1 | CNKSR2 CL E G H | 22866 | 442835 | | | | ORPHA | 0 | | 306 | 19701 | 300724 |
HP:0001336 | HP:0012323 | Sleep myoclonus | 1 | CNKSR2 CL E G H | 22866 | 442835 | | | | ORPHA | 0 | | 306 | 19701 | 300724 |
HP:0001336 | HP:0007000 | Morning myoclonic jerks | 1 | CNKSR2 CL E G H | 22866 | 442835 | | | | ORPHA | 0 | | 306 | 19701 | 300724 |
HP:0001336 | HP:0031986 | Polyminimyoclonus | 1 | CNKSR2 CL E G H | 22866 | 442835 | | | | ORPHA | 0 | | 306 | 19701 | 300724 |
HP:0001336 | HP:0031986 | Polyminimyoclonus | 1 | COQ8A CL E G H | 56997 | 139485 | | | | ORPHA | 0 | | 699 | 16812 | 606980 |
HP:0001336 | HP:0007000 | Morning myoclonic jerks | 1 | COQ8A CL E G H | 56997 | 139485 | | | | ORPHA | 0 | | 699 | 16812 | 606980 |
HP:0001336 | HP:0040148 | Cortical myoclonus | 1 | COQ8A CL E G H | 56997 | 139485 | | | | ORPHA | 0 | | 699 | 16812 | 606980 |
HP:0001336 | HP:0045084 | Limb myoclonus | 1 | COQ8A CL E G H | 56997 | 139485 | | | | ORPHA | 0 | | 699 | 16812 | 606980 |
HP:0001336 | HP:0010530 | Palatal myoclonus | 1 | COQ8A CL E G H | 56997 | 139485 | | | | ORPHA | 0 | | 699 | 16812 | 606980 |
HP:0001336 | HP:0010531 | Spinal myoclonus | 1 | COQ8A CL E G H | 56997 | 139485 | | | | ORPHA | 0 | | 699 | 16812 | 606980 |
HP:0001336 | HP:0012462 | Chin myoclonus | 1 | COQ8A CL E G H | 56997 | 139485 | | | | ORPHA | 0 | | 699 | 16812 | 606980 |
HP:0001336 | HP:0025097 | Eyelid myoclonus | 1 | COQ8A CL E G H | 56997 | 139485 | | | | ORPHA | 0 | | 699 | 16812 | 606980 |
HP:0001336 | HP:0012323 | Sleep myoclonus | 1 | COQ8A CL E G H | 56997 | 139485 | | | | ORPHA | 0 | | 699 | 16812 | 606980 |
HP:0001336 | HP:0025357 | Erratic myoclonus | 1 | COQ8A CL E G H | 56997 | 139485 | | | | ORPHA | 0 | | 699 | 16812 | 606980 |
HP:0001336 | HP:0003739 | Myoclonic spasms | 1 | COQ8A CL E G H | 56997 | 139485 | | | | ORPHA | 0 | | 699 | 16812 | 606980 |
HP:0001336 | HP:0012462 | Chin myoclonus | 1 | COQ8A CL E G H | 56997 | 612016 | Coenzyme Q10 deficiency, primary, 4 | 612016 | C2677589 | OMIM | 0 | | 699 | 16812 | 606980 |
HP:0001336 | HP:0025097 | Eyelid myoclonus | 1 | COQ8A CL E G H | 56997 | 612016 | Coenzyme Q10 deficiency, primary, 4 | 612016 | C2677589 | OMIM | 0 | | 699 | 16812 | 606980 |
HP:0001336 | HP:0010531 | Spinal myoclonus | 1 | COQ8A CL E G H | 56997 | 612016 | Coenzyme Q10 deficiency, primary, 4 | 612016 | C2677589 | OMIM | 0 | | 699 | 16812 | 606980 |
HP:0001336 | HP:0025357 | Erratic myoclonus | 1 | COQ8A CL E G H | 56997 | 612016 | Coenzyme Q10 deficiency, primary, 4 | 612016 | C2677589 | OMIM | 0 | | 699 | 16812 | 606980 |
HP:0001336 | HP:0003739 | Myoclonic spasms | 1 | COQ8A CL E G H | 56997 | 612016 | Coenzyme Q10 deficiency, primary, 4 | 612016 | C2677589 | OMIM | 0 | | 699 | 16812 | 606980 |
HP:0001336 | HP:0012323 | Sleep myoclonus | 1 | COQ8A CL E G H | 56997 | 612016 | Coenzyme Q10 deficiency, primary, 4 | 612016 | C2677589 | OMIM | 0 | | 699 | 16812 | 606980 |
HP:0001336 | HP:0007000 | Morning myoclonic jerks | 1 | COQ8A CL E G H | 56997 | 612016 | Coenzyme Q10 deficiency, primary, 4 | 612016 | C2677589 | OMIM | 0 | | 699 | 16812 | 606980 |
HP:0001336 | HP:0031986 | Polyminimyoclonus | 1 | COQ8A CL E G H | 56997 | 612016 | Coenzyme Q10 deficiency, primary, 4 | 612016 | C2677589 | OMIM | 0 | | 699 | 16812 | 606980 |
HP:0001336 | HP:0040148 | Cortical myoclonus | 1 | COQ8A CL E G H | 56997 | 612016 | Coenzyme Q10 deficiency, primary, 4 | 612016 | C2677589 | OMIM | 0 | | 699 | 16812 | 606980 |
HP:0001336 | HP:0045084 | Limb myoclonus | 1 | COQ8A CL E G H | 56997 | 612016 | Coenzyme Q10 deficiency, primary, 4 | 612016 | C2677589 | OMIM | 0 | | 699 | 16812 | 606980 |
HP:0001336 | HP:0010530 | Palatal myoclonus | 1 | COQ8A CL E G H | 56997 | 612016 | Coenzyme Q10 deficiency, primary, 4 | 612016 | C2677589 | OMIM | 0 | | 699 | 16812 | 606980 |
HP:0001336 | HP:0025357 | Erratic myoclonus | 1 | CYFIP2 CL E G H | 26999 | 442835 | | | | ORPHA | 0 | | 668 | 13760 | 606323 |
HP:0001336 | HP:0003739 | Myoclonic spasms | 1 | CYFIP2 CL E G H | 26999 | 442835 | | | | ORPHA | 0 | | 668 | 13760 | 606323 |
HP:0001336 | HP:0012323 | Sleep myoclonus | 1 | CYFIP2 CL E G H | 26999 | 442835 | | | | ORPHA | 0 | | 668 | 13760 | 606323 |
HP:0001336 | HP:0007000 | Morning myoclonic jerks | 1 | CYFIP2 CL E G H | 26999 | 442835 | | | | ORPHA | 0 | | 668 | 13760 | 606323 |
HP:0001336 | HP:0031986 | Polyminimyoclonus | 1 | CYFIP2 CL E G H | 26999 | 442835 | | | | ORPHA | 0 | | 668 | 13760 | 606323 |
HP:0001336 | HP:0040148 | Cortical myoclonus | 1 | CYFIP2 CL E G H | 26999 | 442835 | | | | ORPHA | 0 | | 668 | 13760 | 606323 |
HP:0001336 | HP:0045084 | Limb myoclonus | 1 | CYFIP2 CL E G H | 26999 | 442835 | | | | ORPHA | 0 | | 668 | 13760 | 606323 |
HP:0001336 | HP:0010530 | Palatal myoclonus | 1 | CYFIP2 CL E G H | 26999 | 442835 | | | | ORPHA | 0 | | 668 | 13760 | 606323 |
HP:0001336 | HP:0012462 | Chin myoclonus | 1 | CYFIP2 CL E G H | 26999 | 442835 | | | | ORPHA | 0 | | 668 | 13760 | 606323 |
HP:0001336 | HP:0025097 | Eyelid myoclonus | 1 | CYFIP2 CL E G H | 26999 | 442835 | | | | ORPHA | 0 | | 668 | 13760 | 606323 |
HP:0001336 | HP:0010531 | Spinal myoclonus | 1 | CYFIP2 CL E G H | 26999 | 442835 | | | | ORPHA | 0 | | 668 | 13760 | 606323 |
HP:0001336 | HP:0045084 | Limb myoclonus | 1 | DHDDS CL E G H | 79947 | 442835 | | | | ORPHA | 0 | | 434 | 20603 | 608172 |
HP:0001336 | HP:0010530 | Palatal myoclonus | 1 | DHDDS CL E G H | 79947 | 442835 | | | | ORPHA | 0 | | 434 | 20603 | 608172 |
HP:0001336 | HP:0040148 | Cortical myoclonus | 1 | DHDDS CL E G H | 79947 | 442835 | | | | ORPHA | 0 | | 434 | 20603 | 608172 |
HP:0001336 | HP:0025097 | Eyelid myoclonus | 1 | DHDDS CL E G H | 79947 | 442835 | | | | ORPHA | 0 | | 434 | 20603 | 608172 |
HP:0001336 | HP:0010531 | Spinal myoclonus | 1 | DHDDS CL E G H | 79947 | 442835 | | | | ORPHA | 0 | | 434 | 20603 | 608172 |
HP:0001336 | HP:0012462 | Chin myoclonus | 1 | DHDDS CL E G H | 79947 | 442835 | | | | ORPHA | 0 | | 434 | 20603 | 608172 |
HP:0001336 | HP:0025357 | Erratic myoclonus | 1 | DHDDS CL E G H | 79947 | 442835 | | | | ORPHA | 0 | | 434 | 20603 | 608172 |
HP:0001336 | HP:0003739 | Myoclonic spasms | 1 | DHDDS CL E G H | 79947 | 442835 | | | | ORPHA | 0 | | 434 | 20603 | 608172 |
HP:0001336 | HP:0012323 | Sleep myoclonus | 1 | DHDDS CL E G H | 79947 | 442835 | | | | ORPHA | 0 | | 434 | 20603 | 608172 |
HP:0001336 | HP:0007000 | Morning myoclonic jerks | 1 | DHDDS CL E G H | 79947 | 442835 | | | | ORPHA | 0 | | 434 | 20603 | 608172 |
HP:0001336 | HP:0031986 | Polyminimyoclonus | 1 | DHDDS CL E G H | 79947 | 442835 | | | | ORPHA | 0 | | 434 | 20603 | 608172 |
HP:0001336 | HP:0012323 | Sleep myoclonus | 1 | DNAJC6 CL E G H | 9829 | 391411 | | | | ORPHA | 0 | | 310 | 15469 | 608375 |
HP:0001336 | HP:0025357 | Erratic myoclonus | 1 | DNAJC6 CL E G H | 9829 | 391411 | | | | ORPHA | 0 | | 310 | 15469 | 608375 |
HP:0001336 | HP:0003739 | Myoclonic spasms | 1 | DNAJC6 CL E G H | 9829 | 391411 | | | | ORPHA | 0 | | 310 | 15469 | 608375 |
HP:0001336 | HP:0031986 | Polyminimyoclonus | 1 | DNAJC6 CL E G H | 9829 | 391411 | | | | ORPHA | 0 | | 310 | 15469 | 608375 |
HP:0001336 | HP:0007000 | Morning myoclonic jerks | 1 | DNAJC6 CL E G H | 9829 | 391411 | | | | ORPHA | 0 | | 310 | 15469 | 608375 |
HP:0001336 | HP:0010530 | Palatal myoclonus | 1 | DNAJC6 CL E G H | 9829 | 391411 | | | | ORPHA | 0 | | 310 | 15469 | 608375 |
HP:0001336 | HP:0040148 | Cortical myoclonus | 1 | DNAJC6 CL E G H | 9829 | 391411 | | | | ORPHA | 0 | | 310 | 15469 | 608375 |
HP:0001336 | HP:0045084 | Limb myoclonus | 1 | DNAJC6 CL E G H | 9829 | 391411 | | | | ORPHA | 0 | | 310 | 15469 | 608375 |
HP:0001336 | HP:0010531 | Spinal myoclonus | 1 | DNAJC6 CL E G H | 9829 | 391411 | | | | ORPHA | 0 | | 310 | 15469 | 608375 |
HP:0001336 | HP:0012462 | Chin myoclonus | 1 | DNAJC6 CL E G H | 9829 | 391411 | | | | ORPHA | 0 | | 310 | 15469 | 608375 |
HP:0001336 | HP:0025097 | Eyelid myoclonus | 1 | DNAJC6 CL E G H | 9829 | 391411 | | | | ORPHA | 0 | | 310 | 15469 | 608375 |
HP:0001336 | HP:0012323 | Sleep myoclonus | 1 | DNM1 CL E G H | 1759 | 442835 | | | | ORPHA | 0 | | 765 | 2972 | 602377 |
HP:0001336 | HP:0025357 | Erratic myoclonus | 1 | DNM1 CL E G H | 1759 | 442835 | | | | ORPHA | 0 | | 765 | 2972 | 602377 |
HP:0001336 | HP:0003739 | Myoclonic spasms | 1 | DNM1 CL E G H | 1759 | 442835 | | | | ORPHA | 0 | | 765 | 2972 | 602377 |
HP:0001336 | HP:0031986 | Polyminimyoclonus | 1 | DNM1 CL E G H | 1759 | 442835 | | | | ORPHA | 0 | | 765 | 2972 | 602377 |
HP:0001336 | HP:0007000 | Morning myoclonic jerks | 1 | DNM1 CL E G H | 1759 | 442835 | | | | ORPHA | 0 | | 765 | 2972 | 602377 |
HP:0001336 | HP:0010530 | Palatal myoclonus | 1 | DNM1 CL E G H | 1759 | 442835 | | | | ORPHA | 0 | | 765 | 2972 | 602377 |
HP:0001336 | HP:0040148 | Cortical myoclonus | 1 | DNM1 CL E G H | 1759 | 442835 | | | | ORPHA | 0 | | 765 | 2972 | 602377 |
HP:0001336 | HP:0045084 | Limb myoclonus | 1 | DNM1 CL E G H | 1759 | 442835 | | | | ORPHA | 0 | | 765 | 2972 | 602377 |
HP:0001336 | HP:0010531 | Spinal myoclonus | 1 | DNM1 CL E G H | 1759 | 442835 | | | | ORPHA | 0 | | 765 | 2972 | 602377 |
HP:0001336 | HP:0012462 | Chin myoclonus | 1 | DNM1 CL E G H | 1759 | 442835 | | | | ORPHA | 0 | | 765 | 2972 | 602377 |
HP:0001336 | HP:0025097 | Eyelid myoclonus | 1 | DNM1 CL E G H | 1759 | 442835 | | | | ORPHA | 0 | | 765 | 2972 | 602377 |
HP:0001336 | HP:0040148 | Cortical myoclonus | 1 | EEF1A2 CL E G H | 1917 | 442835 | | | | ORPHA | 0 | | 575 | 3192 | 602959 |
HP:0001336 | HP:0045084 | Limb myoclonus | 1 | EEF1A2 CL E G H | 1917 | 442835 | | | | ORPHA | 0 | | 575 | 3192 | 602959 |
HP:0001336 | HP:0010530 | Palatal myoclonus | 1 | EEF1A2 CL E G H | 1917 | 442835 | | | | ORPHA | 0 | | 575 | 3192 | 602959 |
HP:0001336 | HP:0012462 | Chin myoclonus | 1 | EEF1A2 CL E G H | 1917 | 442835 | | | | ORPHA | 0 | | 575 | 3192 | 602959 |
HP:0001336 | HP:0025097 | Eyelid myoclonus | 1 | EEF1A2 CL E G H | 1917 | 442835 | | | | ORPHA | 0 | | 575 | 3192 | 602959 |
HP:0001336 | HP:0010531 | Spinal myoclonus | 1 | EEF1A2 CL E G H | 1917 | 442835 | | | | ORPHA | 0 | | 575 | 3192 | 602959 |
HP:0001336 | HP:0025357 | Erratic myoclonus | 1 | EEF1A2 CL E G H | 1917 | 442835 | | | | ORPHA | 0 | | 575 | 3192 | 602959 |
HP:0001336 | HP:0003739 | Myoclonic spasms | 1 | EEF1A2 CL E G H | 1917 | 442835 | | | | ORPHA | 0 | | 575 | 3192 | 602959 |
HP:0001336 | HP:0012323 | Sleep myoclonus | 1 | EEF1A2 CL E G H | 1917 | 442835 | | | | ORPHA | 0 | | 575 | 3192 | 602959 |
HP:0001336 | HP:0007000 | Morning myoclonic jerks | 1 | EEF1A2 CL E G H | 1917 | 442835 | | | | ORPHA | 0 | | 575 | 3192 | 602959 |
HP:0001336 | HP:0031986 | Polyminimyoclonus | 1 | EEF1A2 CL E G H | 1917 | 442835 | | | | ORPHA | 0 | | 575 | 3192 | 602959 |
HP:0001336 | HP:0045084 | Limb myoclonus | 1 | EFHC1 CL E G H | 114327 | 1941 | | | | ORPHA | 0 | | 454 | 16406 | 608815 |
HP:0001336 | HP:0010530 | Palatal myoclonus | 1 | EFHC1 CL E G H | 114327 | 1941 | | | | ORPHA | 0 | | 454 | 16406 | 608815 |
HP:0001336 | HP:0040148 | Cortical myoclonus | 1 | EFHC1 CL E G H | 114327 | 1941 | | | | ORPHA | 0 | | 454 | 16406 | 608815 |
HP:0001336 | HP:0025097 | Eyelid myoclonus | 1 | EFHC1 CL E G H | 114327 | 1941 | | | | ORPHA | 0 | | 454 | 16406 | 608815 |
HP:0001336 | HP:0010531 | Spinal myoclonus | 1 | EFHC1 CL E G H | 114327 | 1941 | | | | ORPHA | 0 | | 454 | 16406 | 608815 |
HP:0001336 | HP:0012462 | Chin myoclonus | 1 | EFHC1 CL E G H | 114327 | 1941 | | | | ORPHA | 0 | | 454 | 16406 | 608815 |
HP:0001336 | HP:0025357 | Erratic myoclonus | 1 | EFHC1 CL E G H | 114327 | 1941 | | | | ORPHA | 0 | | 454 | 16406 | 608815 |
HP:0001336 | HP:0003739 | Myoclonic spasms | 1 | EFHC1 CL E G H | 114327 | 1941 | | | | ORPHA | 0 | | 454 | 16406 | 608815 |
HP:0001336 | HP:0012323 | Sleep myoclonus | 1 | EFHC1 CL E G H | 114327 | 1941 | | | | ORPHA | 0 | | 454 | 16406 | 608815 |
HP:0001336 | HP:0007000 | Morning myoclonic jerks | 1 | EFHC1 CL E G H | 114327 | 1941 | | | | ORPHA | 0 | | 454 | 16406 | 608815 |
HP:0001336 | HP:0031986 | Polyminimyoclonus | 1 | EFHC1 CL E G H | 114327 | 1941 | | | | ORPHA | 0 | | 454 | 16406 | 608815 |
HP:0001336 | HP:0025357 | Erratic myoclonus | 1 | FGF12 CL E G H | 2257 | 442835 | | | | ORPHA | 0 | | 259 | 3668 | 601513 |
HP:0001336 | HP:0003739 | Myoclonic spasms | 1 | FGF12 CL E G H | 2257 | 442835 | | | | ORPHA | 0 | | 259 | 3668 | 601513 |
HP:0001336 | HP:0012323 | Sleep myoclonus | 1 | FGF12 CL E G H | 2257 | 442835 | | | | ORPHA | 0 | | 259 | 3668 | 601513 |
HP:0001336 | HP:0007000 | Morning myoclonic jerks | 1 | FGF12 CL E G H | 2257 | 442835 | | | | ORPHA | 0 | | 259 | 3668 | 601513 |
HP:0001336 | HP:0031986 | Polyminimyoclonus | 1 | FGF12 CL E G H | 2257 | 442835 | | | | ORPHA | 0 | | 259 | 3668 | 601513 |
HP:0001336 | HP:0040148 | Cortical myoclonus | 1 | FGF12 CL E G H | 2257 | 442835 | | | | ORPHA | 0 | | 259 | 3668 | 601513 |
HP:0001336 | HP:0045084 | Limb myoclonus | 1 | FGF12 CL E G H | 2257 | 442835 | | | | ORPHA | 0 | | 259 | 3668 | 601513 |
HP:0001336 | HP:0010530 | Palatal myoclonus | 1 | FGF12 CL E G H | 2257 | 442835 | | | | ORPHA | 0 | | 259 | 3668 | 601513 |
HP:0001336 | HP:0012462 | Chin myoclonus | 1 | FGF12 CL E G H | 2257 | 442835 | | | | ORPHA | 0 | | 259 | 3668 | 601513 |
HP:0001336 | HP:0025097 | Eyelid myoclonus | 1 | FGF12 CL E G H | 2257 | 442835 | | | | ORPHA | 0 | | 259 | 3668 | 601513 |
HP:0001336 | HP:0010531 | Spinal myoclonus | 1 | FGF12 CL E G H | 2257 | 442835 | | | | ORPHA | 0 | | 259 | 3668 | 601513 |
HP:0001336 | HP:0045084 | Limb myoclonus | 1 | GABRB2 CL E G H | 2561 | 442835 | | | | ORPHA | 0 | | 494 | 4082 | 600232 |
HP:0001336 | HP:0010530 | Palatal myoclonus | 1 | GABRB2 CL E G H | 2561 | 442835 | | | | ORPHA | 0 | | 494 | 4082 | 600232 |
HP:0001336 | HP:0040148 | Cortical myoclonus | 1 | GABRB2 CL E G H | 2561 | 442835 | | | | ORPHA | 0 | | 494 | 4082 | 600232 |
HP:0001336 | HP:0025097 | Eyelid myoclonus | 1 | GABRB2 CL E G H | 2561 | 442835 | | | | ORPHA | 0 | | 494 | 4082 | 600232 |
HP:0001336 | HP:0010531 | Spinal myoclonus | 1 | GABRB2 CL E G H | 2561 | 442835 | | | | ORPHA | 0 | | 494 | 4082 | 600232 |
HP:0001336 | HP:0012462 | Chin myoclonus | 1 | GABRB2 CL E G H | 2561 | 442835 | | | | ORPHA | 0 | | 494 | 4082 | 600232 |
HP:0001336 | HP:0025357 | Erratic myoclonus | 1 | GABRB2 CL E G H | 2561 | 442835 | | | | ORPHA | 0 | | 494 | 4082 | 600232 |
HP:0001336 | HP:0003739 | Myoclonic spasms | 1 | GABRB2 CL E G H | 2561 | 442835 | | | | ORPHA | 0 | | 494 | 4082 | 600232 |
HP:0001336 | HP:0012323 | Sleep myoclonus | 1 | GABRB2 CL E G H | 2561 | 442835 | | | | ORPHA | 0 | | 494 | 4082 | 600232 |
HP:0001336 | HP:0007000 | Morning myoclonic jerks | 1 | GABRB2 CL E G H | 2561 | 442835 | | | | ORPHA | 0 | | 494 | 4082 | 600232 |
HP:0001336 | HP:0031986 | Polyminimyoclonus | 1 | GABRB2 CL E G H | 2561 | 442835 | | | | ORPHA | 0 | | 494 | 4082 | 600232 |
HP:0001336 | HP:0045084 | Limb myoclonus | 1 | GLRX5 CL E G H | 51218 | 401866 | | | | ORPHA | 0 | | 111 | 20134 | 609588 |
HP:0001336 | HP:0010530 | Palatal myoclonus | 1 | GLRX5 CL E G H | 51218 | 401866 | | | | ORPHA | 0 | | 111 | 20134 | 609588 |
HP:0001336 | HP:0040148 | Cortical myoclonus | 1 | GLRX5 CL E G H | 51218 | 401866 | | | | ORPHA | 0 | | 111 | 20134 | 609588 |
HP:0001336 | HP:0025097 | Eyelid myoclonus | 1 | GLRX5 CL E G H | 51218 | 401866 | | | | ORPHA | 0 | | 111 | 20134 | 609588 |
HP:0001336 | HP:0010531 | Spinal myoclonus | 1 | GLRX5 CL E G H | 51218 | 401866 | | | | ORPHA | 0 | | 111 | 20134 | 609588 |
HP:0001336 | HP:0012462 | Chin myoclonus | 1 | GLRX5 CL E G H | 51218 | 401866 | | | | ORPHA | 0 | | 111 | 20134 | 609588 |
HP:0001336 | HP:0003739 | Myoclonic spasms | 1 | GLRX5 CL E G H | 51218 | 401866 | | | | ORPHA | 0 | | 111 | 20134 | 609588 |
HP:0001336 | HP:0012323 | Sleep myoclonus | 1 | GLRX5 CL E G H | 51218 | 401866 | | | | ORPHA | 0 | | 111 | 20134 | 609588 |
HP:0001336 | HP:0025357 | Erratic myoclonus | 1 | GLRX5 CL E G H | 51218 | 401866 | | | | ORPHA | 0 | | 111 | 20134 | 609588 |
HP:0001336 | HP:0007000 | Morning myoclonic jerks | 1 | GLRX5 CL E G H | 51218 | 401866 | | | | ORPHA | 0 | | 111 | 20134 | 609588 |
HP:0001336 | HP:0031986 | Polyminimyoclonus | 1 | GLRX5 CL E G H | 51218 | 401866 | | | | ORPHA | 0 | | 111 | 20134 | 609588 |
HP:0001336 | HP:0010531 | Spinal myoclonus | 1 | GRIA3 CL E G H | 2892 | 300699 | Mental retardation, X-linked, syndromic, wu type | 300699 | C2678051 | OMIM | 0 | | 560 | 4573 | 305915 |
HP:0001336 | HP:0012462 | Chin myoclonus | 1 | GRIA3 CL E G H | 2892 | 300699 | Mental retardation, X-linked, syndromic, wu type | 300699 | C2678051 | OMIM | 0 | | 560 | 4573 | 305915 |
HP:0001336 | HP:0025097 | Eyelid myoclonus | 1 | GRIA3 CL E G H | 2892 | 300699 | Mental retardation, X-linked, syndromic, wu type | 300699 | C2678051 | OMIM | 0 | | 560 | 4573 | 305915 |
HP:0001336 | HP:0012323 | Sleep myoclonus | 1 | GRIA3 CL E G H | 2892 | 300699 | Mental retardation, X-linked, syndromic, wu type | 300699 | C2678051 | OMIM | 0 | | 560 | 4573 | 305915 |
HP:0001336 | HP:0025357 | Erratic myoclonus | 1 | GRIA3 CL E G H | 2892 | 300699 | Mental retardation, X-linked, syndromic, wu type | 300699 | C2678051 | OMIM | 0 | | 560 | 4573 | 305915 |
HP:0001336 | HP:0003739 | Myoclonic spasms | 1 | GRIA3 CL E G H | 2892 | 300699 | Mental retardation, X-linked, syndromic, wu type | 300699 | C2678051 | OMIM | 0 | | 560 | 4573 | 305915 |
HP:0001336 | HP:0031986 | Polyminimyoclonus | 1 | GRIA3 CL E G H | 2892 | 300699 | Mental retardation, X-linked, syndromic, wu type | 300699 | C2678051 | OMIM | 0 | | 560 | 4573 | 305915 |
HP:0001336 | HP:0007000 | Morning myoclonic jerks | 1 | GRIA3 CL E G H | 2892 | 300699 | Mental retardation, X-linked, syndromic, wu type | 300699 | C2678051 | OMIM | 0 | | 560 | 4573 | 305915 |
HP:0001336 | HP:0040148 | Cortical myoclonus | 1 | GRIA3 CL E G H | 2892 | 300699 | Mental retardation, X-linked, syndromic, wu type | 300699 | C2678051 | OMIM | 0 | | 560 | 4573 | 305915 |
HP:0001336 | HP:0045084 | Limb myoclonus | 1 | GRIA3 CL E G H | 2892 | 300699 | Mental retardation, X-linked, syndromic, wu type | 300699 | C2678051 | OMIM | 0 | | 560 | 4573 | 305915 |
HP:0001336 | HP:0010530 | Palatal myoclonus | 1 | GRIA3 CL E G H | 2892 | 300699 | Mental retardation, X-linked, syndromic, wu type | 300699 | C2678051 | OMIM | 0 | | 560 | 4573 | 305915 |
HP:0001336 | HP:0007000 | Morning myoclonic jerks | 1 | GRIK2 CL E G H | 2898 | 611092 | Mental retardation, autosomal recessive 6 | 611092 | C1970198 | OMIM | 0 | | 189 | 4580 | 138244 |
HP:0001336 | HP:0031986 | Polyminimyoclonus | 1 | GRIK2 CL E G H | 2898 | 611092 | Mental retardation, autosomal recessive 6 | 611092 | C1970198 | OMIM | 0 | | 189 | 4580 | 138244 |
HP:0001336 | HP:0040148 | Cortical myoclonus | 1 | GRIK2 CL E G H | 2898 | 611092 | Mental retardation, autosomal recessive 6 | 611092 | C1970198 | OMIM | 0 | | 189 | 4580 | 138244 |
HP:0001336 | HP:0045084 | Limb myoclonus | 1 | GRIK2 CL E G H | 2898 | 611092 | Mental retardation, autosomal recessive 6 | 611092 | C1970198 | OMIM | 0 | | 189 | 4580 | 138244 |
HP:0001336 | HP:0010530 | Palatal myoclonus | 1 | GRIK2 CL E G H | 2898 | 611092 | Mental retardation, autosomal recessive 6 | 611092 | C1970198 | OMIM | 0 | | 189 | 4580 | 138244 |
HP:0001336 | HP:0025097 | Eyelid myoclonus | 1 | GRIK2 CL E G H | 2898 | 611092 | Mental retardation, autosomal recessive 6 | 611092 | C1970198 | OMIM | 0 | | 189 | 4580 | 138244 |
HP:0001336 | HP:0010531 | Spinal myoclonus | 1 | GRIK2 CL E G H | 2898 | 611092 | Mental retardation, autosomal recessive 6 | 611092 | C1970198 | OMIM | 0 | | 189 | 4580 | 138244 |
HP:0001336 | HP:0012462 | Chin myoclonus | 1 | GRIK2 CL E G H | 2898 | 611092 | Mental retardation, autosomal recessive 6 | 611092 | C1970198 | OMIM | 0 | | 189 | 4580 | 138244 |
HP:0001336 | HP:0025357 | Erratic myoclonus | 1 | GRIK2 CL E G H | 2898 | 611092 | Mental retardation, autosomal recessive 6 | 611092 | C1970198 | OMIM | 0 | | 189 | 4580 | 138244 |
HP:0001336 | HP:0003739 | Myoclonic spasms | 1 | GRIK2 CL E G H | 2898 | 611092 | Mental retardation, autosomal recessive 6 | 611092 | C1970198 | OMIM | 0 | | 189 | 4580 | 138244 |
HP:0001336 | HP:0012323 | Sleep myoclonus | 1 | GRIK2 CL E G H | 2898 | 611092 | Mental retardation, autosomal recessive 6 | 611092 | C1970198 | OMIM | 0 | | 189 | 4580 | 138244 |
HP:0001336 | HP:0012323 | Sleep myoclonus | 1 | GRIN2D CL E G H | 2906 | 442835 | | | | ORPHA | 0 | | 823 | 4588 | 602717 |
HP:0001336 | HP:0025357 | Erratic myoclonus | 1 | GRIN2D CL E G H | 2906 | 442835 | | | | ORPHA | 0 | | 823 | 4588 | 602717 |
HP:0001336 | HP:0003739 | Myoclonic spasms | 1 | GRIN2D CL E G H | 2906 | 442835 | | | | ORPHA | 0 | | 823 | 4588 | 602717 |
HP:0001336 | HP:0031986 | Polyminimyoclonus | 1 | GRIN2D CL E G H | 2906 | 442835 | | | | ORPHA | 0 | | 823 | 4588 | 602717 |
HP:0001336 | HP:0007000 | Morning myoclonic jerks | 1 | GRIN2D CL E G H | 2906 | 442835 | | | | ORPHA | 0 | | 823 | 4588 | 602717 |
HP:0001336 | HP:0010530 | Palatal myoclonus | 1 | GRIN2D CL E G H | 2906 | 442835 | | | | ORPHA | 0 | | 823 | 4588 | 602717 |
HP:0001336 | HP:0040148 | Cortical myoclonus | 1 | GRIN2D CL E G H | 2906 | 442835 | | | | ORPHA | 0 | | 823 | 4588 | 602717 |
HP:0001336 | HP:0045084 | Limb myoclonus | 1 | GRIN2D CL E G H | 2906 | 442835 | | | | ORPHA | 0 | | 823 | 4588 | 602717 |
HP:0001336 | HP:0010531 | Spinal myoclonus | 1 | GRIN2D CL E G H | 2906 | 442835 | | | | ORPHA | 0 | | 823 | 4588 | 602717 |
HP:0001336 | HP:0012462 | Chin myoclonus | 1 | GRIN2D CL E G H | 2906 | 442835 | | | | ORPHA | 0 | | 823 | 4588 | 602717 |
HP:0001336 | HP:0025097 | Eyelid myoclonus | 1 | GRIN2D CL E G H | 2906 | 442835 | | | | ORPHA | 0 | | 823 | 4588 | 602717 |
HP:0001336 | HP:0040148 | Cortical myoclonus | 1 | HCN1 CL E G H | 348980 | 442835 | | | | ORPHA | 0 | | 796 | 4845 | 602780 |
HP:0001336 | HP:0045084 | Limb myoclonus | 1 | HCN1 CL E G H | 348980 | 442835 | | | | ORPHA | 0 | | 796 | 4845 | 602780 |
HP:0001336 | HP:0010530 | Palatal myoclonus | 1 | HCN1 CL E G H | 348980 | 442835 | | | | ORPHA | 0 | | 796 | 4845 | 602780 |
HP:0001336 | HP:0012462 | Chin myoclonus | 1 | HCN1 CL E G H | 348980 | 442835 | | | | ORPHA | 0 | | 796 | 4845 | 602780 |
HP:0001336 | HP:0025097 | Eyelid myoclonus | 1 | HCN1 CL E G H | 348980 | 442835 | | | | ORPHA | 0 | | 796 | 4845 | 602780 |
HP:0001336 | HP:0010531 | Spinal myoclonus | 1 | HCN1 CL E G H | 348980 | 442835 | | | | ORPHA | 0 | | 796 | 4845 | 602780 |
HP:0001336 | HP:0025357 | Erratic myoclonus | 1 | HCN1 CL E G H | 348980 | 442835 | | | | ORPHA | 0 | | 796 | 4845 | 602780 |
HP:0001336 | HP:0003739 | Myoclonic spasms | 1 | HCN1 CL E G H | 348980 | 442835 | | | | ORPHA | 0 | | 796 | 4845 | 602780 |
HP:0001336 | HP:0012323 | Sleep myoclonus | 1 | HCN1 CL E G H | 348980 | 442835 | | | | ORPHA | 0 | | 796 | 4845 | 602780 |
HP:0001336 | HP:0007000 | Morning myoclonic jerks | 1 | HCN1 CL E G H | 348980 | 442835 | | | | ORPHA | 0 | | 796 | 4845 | 602780 |
HP:0001336 | HP:0031986 | Polyminimyoclonus | 1 | HCN1 CL E G H | 348980 | 442835 | | | | ORPHA | 0 | | 796 | 4845 | 602780 |
HP:0001336 | HP:0031986 | Polyminimyoclonus | 1 | HTT CL E G H | 3064 | 248111 | | | | ORPHA | 0 | | 760 | 4851 | 613004 |
HP:0001336 | HP:0007000 | Morning myoclonic jerks | 1 | HTT CL E G H | 3064 | 248111 | | | | ORPHA | 0 | | 760 | 4851 | 613004 |
HP:0001336 | HP:0040148 | Cortical myoclonus | 1 | HTT CL E G H | 3064 | 248111 | | | | ORPHA | 0 | | 760 | 4851 | 613004 |
HP:0001336 | HP:0045084 | Limb myoclonus | 1 | HTT CL E G H | 3064 | 248111 | | | | ORPHA | 0 | | 760 | 4851 | 613004 |
HP:0001336 | HP:0010530 | Palatal myoclonus | 1 | HTT CL E G H | 3064 | 248111 | | | | ORPHA | 0 | | 760 | 4851 | 613004 |
HP:0001336 | HP:0010531 | Spinal myoclonus | 1 | HTT CL E G H | 3064 | 248111 | | | | ORPHA | 0 | | 760 | 4851 | 613004 |
HP:0001336 | HP:0012462 | Chin myoclonus | 1 | HTT CL E G H | 3064 | 248111 | | | | ORPHA | 0 | | 760 | 4851 | 613004 |
HP:0001336 | HP:0025097 | Eyelid myoclonus | 1 | HTT CL E G H | 3064 | 248111 | | | | ORPHA | 0 | | 760 | 4851 | 613004 |
HP:0001336 | HP:0012323 | Sleep myoclonus | 1 | HTT CL E G H | 3064 | 248111 | | | | ORPHA | 0 | | 760 | 4851 | 613004 |
HP:0001336 | HP:0025357 | Erratic myoclonus | 1 | HTT CL E G H | 3064 | 248111 | | | | ORPHA | 0 | | 760 | 4851 | 613004 |
HP:0001336 | HP:0003739 | Myoclonic spasms | 1 | HTT CL E G H | 3064 | 248111 | | | | ORPHA | 0 | | 760 | 4851 | 613004 |
HP:0001336 | HP:0025357 | Erratic myoclonus | 1 | KCNA2 CL E G H | 3737 | 442835 | | | | ORPHA | 0 | | 401 | 6220 | 176262 |
HP:0001336 | HP:0003739 | Myoclonic spasms | 1 | KCNA2 CL E G H | 3737 | 442835 | | | | ORPHA | 0 | | 401 | 6220 | 176262 |
HP:0001336 | HP:0012323 | Sleep myoclonus | 1 | KCNA2 CL E G H | 3737 | 442835 | | | | ORPHA | 0 | | 401 | 6220 | 176262 |
HP:0001336 | HP:0007000 | Morning myoclonic jerks | 1 | KCNA2 CL E G H | 3737 | 442835 | | | | ORPHA | 0 | | 401 | 6220 | 176262 |
HP:0001336 | HP:0031986 | Polyminimyoclonus | 1 | KCNA2 CL E G H | 3737 | 442835 | | | | ORPHA | 0 | | 401 | 6220 | 176262 |
HP:0001336 | HP:0040148 | Cortical myoclonus | 1 | KCNA2 CL E G H | 3737 | 442835 | | | | ORPHA | 0 | | 401 | 6220 | 176262 |
HP:0001336 | HP:0045084 | Limb myoclonus | 1 | KCNA2 CL E G H | 3737 | 442835 | | | | ORPHA | 0 | | 401 | 6220 | 176262 |
HP:0001336 | HP:0010530 | Palatal myoclonus | 1 | KCNA2 CL E G H | 3737 | 442835 | | | | ORPHA | 0 | | 401 | 6220 | 176262 |
HP:0001336 | HP:0012462 | Chin myoclonus | 1 | KCNA2 CL E G H | 3737 | 442835 | | | | ORPHA | 0 | | 401 | 6220 | 176262 |
HP:0001336 | HP:0025097 | Eyelid myoclonus | 1 | KCNA2 CL E G H | 3737 | 442835 | | | | ORPHA | 0 | | 401 | 6220 | 176262 |
HP:0001336 | HP:0010531 | Spinal myoclonus | 1 | KCNA2 CL E G H | 3737 | 442835 | | | | ORPHA | 0 | | 401 | 6220 | 176262 |
HP:0001336 | HP:0045084 | Limb myoclonus | 1 | KCNB1 CL E G H | 3745 | 442835 | | | | ORPHA | 0 | | 635 | 6231 | 600397 |
HP:0001336 | HP:0010530 | Palatal myoclonus | 1 | KCNB1 CL E G H | 3745 | 442835 | | | | ORPHA | 0 | | 635 | 6231 | 600397 |
HP:0001336 | HP:0040148 | Cortical myoclonus | 1 | KCNB1 CL E G H | 3745 | 442835 | | | | ORPHA | 0 | | 635 | 6231 | 600397 |
HP:0001336 | HP:0025097 | Eyelid myoclonus | 1 | KCNB1 CL E G H | 3745 | 442835 | | | | ORPHA | 0 | | 635 | 6231 | 600397 |
HP:0001336 | HP:0010531 | Spinal myoclonus | 1 | KCNB1 CL E G H | 3745 | 442835 | | | | ORPHA | 0 | | 635 | 6231 | 600397 |
HP:0001336 | HP:0012462 | Chin myoclonus | 1 | KCNB1 CL E G H | 3745 | 442835 | | | | ORPHA | 0 | | 635 | 6231 | 600397 |
HP:0001336 | HP:0025357 | Erratic myoclonus | 1 | KCNB1 CL E G H | 3745 | 442835 | | | | ORPHA | 0 | | 635 | 6231 | 600397 |
HP:0001336 | HP:0003739 | Myoclonic spasms | 1 | KCNB1 CL E G H | 3745 | 442835 | | | | ORPHA | 0 | | 635 | 6231 | 600397 |
HP:0001336 | HP:0012323 | Sleep myoclonus | 1 | KCNB1 CL E G H | 3745 | 442835 | | | | ORPHA | 0 | | 635 | 6231 | 600397 |
HP:0001336 | HP:0007000 | Morning myoclonic jerks | 1 | KCNB1 CL E G H | 3745 | 442835 | | | | ORPHA | 0 | | 635 | 6231 | 600397 |
HP:0001336 | HP:0031986 | Polyminimyoclonus | 1 | KCNB1 CL E G H | 3745 | 442835 | | | | ORPHA | 0 | | 635 | 6231 | 600397 |
HP:0001336 | HP:0012462 | Chin myoclonus | 1 | KCNC3 CL E G H | 3748 | 98768 | | | | ORPHA | 0 | | 311 | 6235 | 176264 |
HP:0001336 | HP:0025097 | Eyelid myoclonus | 1 | KCNC3 CL E G H | 3748 | 98768 | | | | ORPHA | 0 | | 311 | 6235 | 176264 |
HP:0001336 | HP:0010531 | Spinal myoclonus | 1 | KCNC3 CL E G H | 3748 | 98768 | | | | ORPHA | 0 | | 311 | 6235 | 176264 |
HP:0001336 | HP:0025357 | Erratic myoclonus | 1 | KCNC3 CL E G H | 3748 | 98768 | | | | ORPHA | 0 | | 311 | 6235 | 176264 |
HP:0001336 | HP:0003739 | Myoclonic spasms | 1 | KCNC3 CL E G H | 3748 | 98768 | | | | ORPHA | 0 | | 311 | 6235 | 176264 |
HP:0001336 | HP:0012323 | Sleep myoclonus | 1 | KCNC3 CL E G H | 3748 | 98768 | | | | ORPHA | 0 | | 311 | 6235 | 176264 |
HP:0001336 | HP:0007000 | Morning myoclonic jerks | 1 | KCNC3 CL E G H | 3748 | 98768 | | | | ORPHA | 0 | | 311 | 6235 | 176264 |
HP:0001336 | HP:0031986 | Polyminimyoclonus | 1 | KCNC3 CL E G H | 3748 | 98768 | | | | ORPHA | 0 | | 311 | 6235 | 176264 |
HP:0001336 | HP:0040148 | Cortical myoclonus | 1 | KCNC3 CL E G H | 3748 | 98768 | | | | ORPHA | 0 | | 311 | 6235 | 176264 |
HP:0001336 | HP:0045084 | Limb myoclonus | 1 | KCNC3 CL E G H | 3748 | 98768 | | | | ORPHA | 0 | | 311 | 6235 | 176264 |
HP:0001336 | HP:0010530 | Palatal myoclonus | 1 | KCNC3 CL E G H | 3748 | 98768 | | | | ORPHA | 0 | | 311 | 6235 | 176264 |
HP:0001336 | HP:0040148 | Cortical myoclonus | 1 | KMT2B CL E G H | 9757 | 617284 | Dystonia 28, childhood-onset | 617284 | C4310633 | OMIM | 0 | | 1303 | 15840 | 606834 |
HP:0001336 | HP:0045084 | Limb myoclonus | 1 | KMT2B CL E G H | 9757 | 617284 | Dystonia 28, childhood-onset | 617284 | C4310633 | OMIM | 0 | | 1303 | 15840 | 606834 |
HP:0001336 | HP:0010530 | Palatal myoclonus | 1 | KMT2B CL E G H | 9757 | 617284 | Dystonia 28, childhood-onset | 617284 | C4310633 | OMIM | 0 | | 1303 | 15840 | 606834 |
HP:0001336 | HP:0012462 | Chin myoclonus | 1 | KMT2B CL E G H | 9757 | 617284 | Dystonia 28, childhood-onset | 617284 | C4310633 | OMIM | 0 | | 1303 | 15840 | 606834 |
HP:0001336 | HP:0025097 | Eyelid myoclonus | 1 | KMT2B CL E G H | 9757 | 617284 | Dystonia 28, childhood-onset | 617284 | C4310633 | OMIM | 0 | | 1303 | 15840 | 606834 |
HP:0001336 | HP:0010531 | Spinal myoclonus | 1 | KMT2B CL E G H | 9757 | 617284 | Dystonia 28, childhood-onset | 617284 | C4310633 | OMIM | 0 | | 1303 | 15840 | 606834 |
HP:0001336 | HP:0025357 | Erratic myoclonus | 1 | KMT2B CL E G H | 9757 | 617284 | Dystonia 28, childhood-onset | 617284 | C4310633 | OMIM | 0 | | 1303 | 15840 | 606834 |
HP:0001336 | HP:0003739 | Myoclonic spasms | 1 | KMT2B CL E G H | 9757 | 617284 | Dystonia 28, childhood-onset | 617284 | C4310633 | OMIM | 0 | | 1303 | 15840 | 606834 |
HP:0001336 | HP:0012323 | Sleep myoclonus | 1 | KMT2B CL E G H | 9757 | 617284 | Dystonia 28, childhood-onset | 617284 | C4310633 | OMIM | 0 | | 1303 | 15840 | 606834 |
HP:0001336 | HP:0007000 | Morning myoclonic jerks | 1 | KMT2B CL E G H | 9757 | 617284 | Dystonia 28, childhood-onset | 617284 | C4310633 | OMIM | 0 | | 1303 | 15840 | 606834 |
HP:0001336 | HP:0031986 | Polyminimyoclonus | 1 | KMT2B CL E G H | 9757 | 617284 | Dystonia 28, childhood-onset | 617284 | C4310633 | OMIM | 0 | | 1303 | 15840 | 606834 |
HP:0001336 | HP:0012462 | Chin myoclonus | 1 | MRE11 CL E G H | 4361 | 251347 | | | | ORPHA | 0 | | 1911 | 7230 | 600814 |
HP:0001336 | HP:0025097 | Eyelid myoclonus | 1 | MRE11 CL E G H | 4361 | 251347 | | | | ORPHA | 0 | | 1911 | 7230 | 600814 |
HP:0001336 | HP:0010531 | Spinal myoclonus | 1 | MRE11 CL E G H | 4361 | 251347 | | | | ORPHA | 0 | | 1911 | 7230 | 600814 |
HP:0001336 | HP:0025357 | Erratic myoclonus | 1 | MRE11 CL E G H | 4361 | 251347 | | | | ORPHA | 0 | | 1911 | 7230 | 600814 |
HP:0001336 | HP:0003739 | Myoclonic spasms | 1 | MRE11 CL E G H | 4361 | 251347 | | | | ORPHA | 0 | | 1911 | 7230 | 600814 |
HP:0001336 | HP:0012323 | Sleep myoclonus | 1 | MRE11 CL E G H | 4361 | 251347 | | | | ORPHA | 0 | | 1911 | 7230 | 600814 |
HP:0001336 | HP:0007000 | Morning myoclonic jerks | 1 | MRE11 CL E G H | 4361 | 251347 | | | | ORPHA | 0 | | 1911 | 7230 | 600814 |
HP:0001336 | HP:0031986 | Polyminimyoclonus | 1 | MRE11 CL E G H | 4361 | 251347 | | | | ORPHA | 0 | | 1911 | 7230 | 600814 |
HP:0001336 | HP:0040148 | Cortical myoclonus | 1 | MRE11 CL E G H | 4361 | 251347 | | | | ORPHA | 0 | | 1911 | 7230 | 600814 |
HP:0001336 | HP:0045084 | Limb myoclonus | 1 | MRE11 CL E G H | 4361 | 251347 | | | | ORPHA | 0 | | 1911 | 7230 | 600814 |
HP:0001336 | HP:0010530 | Palatal myoclonus | 1 | MRE11 CL E G H | 4361 | 251347 | | | | ORPHA | 0 | | 1911 | 7230 | 600814 |
HP:0001336 | HP:0007000 | Morning myoclonic jerks | 1 | MT-ATP6 CL E G H | 4508 | 225154 | | | | ORPHA | 0 | | | 7414 | 516060 |
HP:0001336 | HP:0031986 | Polyminimyoclonus | 1 | MT-ATP6 CL E G H | 4508 | 225154 | | | | ORPHA | 0 | | | 7414 | 516060 |
HP:0001336 | HP:0040148 | Cortical myoclonus | 1 | MT-ATP6 CL E G H | 4508 | 225154 | | | | ORPHA | 0 | | | 7414 | 516060 |
HP:0001336 | HP:0045084 | Limb myoclonus | 1 | MT-ATP6 CL E G H | 4508 | 225154 | | | | ORPHA | 0 | | | 7414 | 516060 |
HP:0001336 | HP:0010530 | Palatal myoclonus | 1 | MT-ATP6 CL E G H | 4508 | 225154 | | | | ORPHA | 0 | | | 7414 | 516060 |
HP:0001336 | HP:0012462 | Chin myoclonus | 1 | MT-ATP6 CL E G H | 4508 | 225154 | | | | ORPHA | 0 | | | 7414 | 516060 |
HP:0001336 | HP:0025097 | Eyelid myoclonus | 1 | MT-ATP6 CL E G H | 4508 | 225154 | | | | ORPHA | 0 | | | 7414 | 516060 |
HP:0001336 | HP:0010531 | Spinal myoclonus | 1 | MT-ATP6 CL E G H | 4508 | 225154 | | | | ORPHA | 0 | | | 7414 | 516060 |
HP:0001336 | HP:0025357 | Erratic myoclonus | 1 | MT-ATP6 CL E G H | 4508 | 225154 | | | | ORPHA | 0 | | | 7414 | 516060 |
HP:0001336 | HP:0003739 | Myoclonic spasms | 1 | MT-ATP6 CL E G H | 4508 | 225154 | | | | ORPHA | 0 | | | 7414 | 516060 |
HP:0001336 | HP:0012323 | Sleep myoclonus | 1 | MT-ATP6 CL E G H | 4508 | 225154 | | | | ORPHA | 0 | | | 7414 | 516060 |
HP:0001336 | HP:0012323 | Sleep myoclonus | 1 | NECAP1 CL E G H | 25977 | 442835 | | | | ORPHA | 0 | | 221 | 24539 | 611623 |
HP:0001336 | HP:0025357 | Erratic myoclonus | 1 | NECAP1 CL E G H | 25977 | 442835 | | | | ORPHA | 0 | | 221 | 24539 | 611623 |
HP:0001336 | HP:0003739 | Myoclonic spasms | 1 | NECAP1 CL E G H | 25977 | 442835 | | | | ORPHA | 0 | | 221 | 24539 | 611623 |
HP:0001336 | HP:0031986 | Polyminimyoclonus | 1 | NECAP1 CL E G H | 25977 | 442835 | | | | ORPHA | 0 | | 221 | 24539 | 611623 |
HP:0001336 | HP:0007000 | Morning myoclonic jerks | 1 | NECAP1 CL E G H | 25977 | 442835 | | | | ORPHA | 0 | | 221 | 24539 | 611623 |
HP:0001336 | HP:0010530 | Palatal myoclonus | 1 | NECAP1 CL E G H | 25977 | 442835 | | | | ORPHA | 0 | | 221 | 24539 | 611623 |
HP:0001336 | HP:0040148 | Cortical myoclonus | 1 | NECAP1 CL E G H | 25977 | 442835 | | | | ORPHA | 0 | | 221 | 24539 | 611623 |
HP:0001336 | HP:0045084 | Limb myoclonus | 1 | NECAP1 CL E G H | 25977 | 442835 | | | | ORPHA | 0 | | 221 | 24539 | 611623 |
HP:0001336 | HP:0010531 | Spinal myoclonus | 1 | NECAP1 CL E G H | 25977 | 442835 | | | | ORPHA | 0 | | 221 | 24539 | 611623 |
HP:0001336 | HP:0012462 | Chin myoclonus | 1 | NECAP1 CL E G H | 25977 | 442835 | | | | ORPHA | 0 | | 221 | 24539 | 611623 |
HP:0001336 | HP:0025097 | Eyelid myoclonus | 1 | NECAP1 CL E G H | 25977 | 442835 | | | | ORPHA | 0 | | 221 | 24539 | 611623 |
HP:0001336 | HP:0040148 | Cortical myoclonus | 1 | NTRK2 CL E G H | 4915 | 442835 | | | | ORPHA | 0 | | 509 | 8032 | 600456 |
HP:0001336 | HP:0045084 | Limb myoclonus | 1 | NTRK2 CL E G H | 4915 | 442835 | | | | ORPHA | 0 | | 509 | 8032 | 600456 |
HP:0001336 | HP:0010530 | Palatal myoclonus | 1 | NTRK2 CL E G H | 4915 | 442835 | | | | ORPHA | 0 | | 509 | 8032 | 600456 |
HP:0001336 | HP:0010531 | Spinal myoclonus | 1 | NTRK2 CL E G H | 4915 | 442835 | | | | ORPHA | 0 | | 509 | 8032 | 600456 |
HP:0001336 | HP:0012462 | Chin myoclonus | 1 | NTRK2 CL E G H | 4915 | 442835 | | | | ORPHA | 0 | | 509 | 8032 | 600456 |
HP:0001336 | HP:0025097 | Eyelid myoclonus | 1 | NTRK2 CL E G H | 4915 | 442835 | | | | ORPHA | 0 | | 509 | 8032 | 600456 |
HP:0001336 | HP:0025357 | Erratic myoclonus | 1 | NTRK2 CL E G H | 4915 | 442835 | | | | ORPHA | 0 | | 509 | 8032 | 600456 |
HP:0001336 | HP:0003739 | Myoclonic spasms | 1 | NTRK2 CL E G H | 4915 | 442835 | | | | ORPHA | 0 | | 509 | 8032 | 600456 |
HP:0001336 | HP:0012323 | Sleep myoclonus | 1 | NTRK2 CL E G H | 4915 | 442835 | | | | ORPHA | 0 | | 509 | 8032 | 600456 |
HP:0001336 | HP:0007000 | Morning myoclonic jerks | 1 | NTRK2 CL E G H | 4915 | 442835 | | | | ORPHA | 0 | | 509 | 8032 | 600456 |
HP:0001336 | HP:0031986 | Polyminimyoclonus | 1 | NTRK2 CL E G H | 4915 | 442835 | | | | ORPHA | 0 | | 509 | 8032 | 600456 |
HP:0001336 | HP:0010531 | Spinal myoclonus | 1 | NUP62 CL E G H | 23636 | 225154 | | | | ORPHA | 0 | | 161 | 8066 | 605815 |
HP:0001336 | HP:0012462 | Chin myoclonus | 1 | NUP62 CL E G H | 23636 | 225154 | | | | ORPHA | 0 | | 161 | 8066 | 605815 |
HP:0001336 | HP:0025097 | Eyelid myoclonus | 1 | NUP62 CL E G H | 23636 | 225154 | | | | ORPHA | 0 | | 161 | 8066 | 605815 |
HP:0001336 | HP:0003739 | Myoclonic spasms | 1 | NUP62 CL E G H | 23636 | 225154 | | | | ORPHA | 0 | | 161 | 8066 | 605815 |
HP:0001336 | HP:0012323 | Sleep myoclonus | 1 | NUP62 CL E G H | 23636 | 225154 | | | | ORPHA | 0 | | 161 | 8066 | 605815 |
HP:0001336 | HP:0025357 | Erratic myoclonus | 1 | NUP62 CL E G H | 23636 | 225154 | | | | ORPHA | 0 | | 161 | 8066 | 605815 |
HP:0001336 | HP:0007000 | Morning myoclonic jerks | 1 | NUP62 CL E G H | 23636 | 225154 | | | | ORPHA | 0 | | 161 | 8066 | 605815 |
HP:0001336 | HP:0031986 | Polyminimyoclonus | 1 | NUP62 CL E G H | 23636 | 225154 | | | | ORPHA | 0 | | 161 | 8066 | 605815 |
HP:0001336 | HP:0045084 | Limb myoclonus | 1 | NUP62 CL E G H | 23636 | 225154 | | | | ORPHA | 0 | | 161 | 8066 | 605815 |
HP:0001336 | HP:0010530 | Palatal myoclonus | 1 | NUP62 CL E G H | 23636 | 225154 | | | | ORPHA | 0 | | 161 | 8066 | 605815 |
HP:0001336 | HP:0040148 | Cortical myoclonus | 1 | NUP62 CL E G H | 23636 | 225154 | | | | ORPHA | 0 | | 161 | 8066 | 605815 |
HP:0001336 | HP:0025357 | Erratic myoclonus | 1 | NUS1 CL E G H | 116150 | 442835 | | | | ORPHA | 0 | | 326 | 21042 | 610463 |
HP:0001336 | HP:0003739 | Myoclonic spasms | 1 | NUS1 CL E G H | 116150 | 442835 | | | | ORPHA | 0 | | 326 | 21042 | 610463 |
HP:0001336 | HP:0012323 | Sleep myoclonus | 1 | NUS1 CL E G H | 116150 | 442835 | | | | ORPHA | 0 | | 326 | 21042 | 610463 |
HP:0001336 | HP:0007000 | Morning myoclonic jerks | 1 | NUS1 CL E G H | 116150 | 442835 | | | | ORPHA | 0 | | 326 | 21042 | 610463 |
HP:0001336 | HP:0031986 | Polyminimyoclonus | 1 | NUS1 CL E G H | 116150 | 442835 | | | | ORPHA | 0 | | 326 | 21042 | 610463 |
HP:0001336 | HP:0040148 | Cortical myoclonus | 1 | NUS1 CL E G H | 116150 | 442835 | | | | ORPHA | 0 | | 326 | 21042 | 610463 |
HP:0001336 | HP:0045084 | Limb myoclonus | 1 | NUS1 CL E G H | 116150 | 442835 | | | | ORPHA | 0 | | 326 | 21042 | 610463 |
HP:0001336 | HP:0010530 | Palatal myoclonus | 1 | NUS1 CL E G H | 116150 | 442835 | | | | ORPHA | 0 | | 326 | 21042 | 610463 |
HP:0001336 | HP:0012462 | Chin myoclonus | 1 | NUS1 CL E G H | 116150 | 442835 | | | | ORPHA | 0 | | 326 | 21042 | 610463 |
HP:0001336 | HP:0025097 | Eyelid myoclonus | 1 | NUS1 CL E G H | 116150 | 442835 | | | | ORPHA | 0 | | 326 | 21042 | 610463 |
HP:0001336 | HP:0010531 | Spinal myoclonus | 1 | NUS1 CL E G H | 116150 | 442835 | | | | ORPHA | 0 | | 326 | 21042 | 610463 |
HP:0001336 | HP:0031986 | Polyminimyoclonus | 1 | PLA2G6 CL E G H | 8398 | 199351 | | | | ORPHA | 0 | | 775 | 9039 | 603604 |
HP:0001336 | HP:0007000 | Morning myoclonic jerks | 1 | PLA2G6 CL E G H | 8398 | 199351 | | | | ORPHA | 0 | | 775 | 9039 | 603604 |
HP:0001336 | HP:0040148 | Cortical myoclonus | 1 | PLA2G6 CL E G H | 8398 | 199351 | | | | ORPHA | 0 | | 775 | 9039 | 603604 |
HP:0001336 | HP:0045084 | Limb myoclonus | 1 | PLA2G6 CL E G H | 8398 | 199351 | | | | ORPHA | 0 | | 775 | 9039 | 603604 |
HP:0001336 | HP:0010530 | Palatal myoclonus | 1 | PLA2G6 CL E G H | 8398 | 199351 | | | | ORPHA | 0 | | 775 | 9039 | 603604 |
HP:0001336 | HP:0010531 | Spinal myoclonus | 1 | PLA2G6 CL E G H | 8398 | 199351 | | | | ORPHA | 0 | | 775 | 9039 | 603604 |
HP:0001336 | HP:0012462 | Chin myoclonus | 1 | PLA2G6 CL E G H | 8398 | 199351 | | | | ORPHA | 0 | | 775 | 9039 | 603604 |
HP:0001336 | HP:0025097 | Eyelid myoclonus | 1 | PLA2G6 CL E G H | 8398 | 199351 | | | | ORPHA | 0 | | 775 | 9039 | 603604 |
HP:0001336 | HP:0012323 | Sleep myoclonus | 1 | PLA2G6 CL E G H | 8398 | 199351 | | | | ORPHA | 0 | | 775 | 9039 | 603604 |
HP:0001336 | HP:0025357 | Erratic myoclonus | 1 | PLA2G6 CL E G H | 8398 | 199351 | | | | ORPHA | 0 | | 775 | 9039 | 603604 |
HP:0001336 | HP:0003739 | Myoclonic spasms | 1 | PLA2G6 CL E G H | 8398 | 199351 | | | | ORPHA | 0 | | 775 | 9039 | 603604 |
HP:0001336 | HP:0040148 | Cortical myoclonus | 1 | PODXL CL E G H | 5420 | 391411 | | | | ORPHA | 0 | | 200 | 9171 | 602632 |
HP:0001336 | HP:0045084 | Limb myoclonus | 1 | PODXL CL E G H | 5420 | 391411 | | | | ORPHA | 0 | | 200 | 9171 | 602632 |
HP:0001336 | HP:0010530 | Palatal myoclonus | 1 | PODXL CL E G H | 5420 | 391411 | | | | ORPHA | 0 | | 200 | 9171 | 602632 |
HP:0001336 | HP:0012462 | Chin myoclonus | 1 | PODXL CL E G H | 5420 | 391411 | | | | ORPHA | 0 | | 200 | 9171 | 602632 |
HP:0001336 | HP:0025097 | Eyelid myoclonus | 1 | PODXL CL E G H | 5420 | 391411 | | | | ORPHA | 0 | | 200 | 9171 | 602632 |
HP:0001336 | HP:0010531 | Spinal myoclonus | 1 | PODXL CL E G H | 5420 | 391411 | | | | ORPHA | 0 | | 200 | 9171 | 602632 |
HP:0001336 | HP:0025357 | Erratic myoclonus | 1 | PODXL CL E G H | 5420 | 391411 | | | | ORPHA | 0 | | 200 | 9171 | 602632 |
HP:0001336 | HP:0003739 | Myoclonic spasms | 1 | PODXL CL E G H | 5420 | 391411 | | | | ORPHA | 0 | | 200 | 9171 | 602632 |
HP:0001336 | HP:0012323 | Sleep myoclonus | 1 | PODXL CL E G H | 5420 | 391411 | | | | ORPHA | 0 | | 200 | 9171 | 602632 |
HP:0001336 | HP:0007000 | Morning myoclonic jerks | 1 | PODXL CL E G H | 5420 | 391411 | | | | ORPHA | 0 | | 200 | 9171 | 602632 |
HP:0001336 | HP:0031986 | Polyminimyoclonus | 1 | PODXL CL E G H | 5420 | 391411 | | | | ORPHA | 0 | | 200 | 9171 | 602632 |
HP:0001336 | HP:0045084 | Limb myoclonus | 1 | PPP3CA CL E G H | 5530 | 442835 | | | | ORPHA | 0 | | 351 | 9314 | 114105 |
HP:0001336 | HP:0010530 | Palatal myoclonus | 1 | PPP3CA CL E G H | 5530 | 442835 | | | | ORPHA | 0 | | 351 | 9314 | 114105 |
HP:0001336 | HP:0040148 | Cortical myoclonus | 1 | PPP3CA CL E G H | 5530 | 442835 | | | | ORPHA | 0 | | 351 | 9314 | 114105 |
HP:0001336 | HP:0025097 | Eyelid myoclonus | 1 | PPP3CA CL E G H | 5530 | 442835 | | | | ORPHA | 0 | | 351 | 9314 | 114105 |
HP:0001336 | HP:0010531 | Spinal myoclonus | 1 | PPP3CA CL E G H | 5530 | 442835 | | | | ORPHA | 0 | | 351 | 9314 | 114105 |
HP:0001336 | HP:0012462 | Chin myoclonus | 1 | PPP3CA CL E G H | 5530 | 442835 | | | | ORPHA | 0 | | 351 | 9314 | 114105 |
HP:0001336 | HP:0025357 | Erratic myoclonus | 1 | PPP3CA CL E G H | 5530 | 442835 | | | | ORPHA | 0 | | 351 | 9314 | 114105 |
HP:0001336 | HP:0003739 | Myoclonic spasms | 1 | PPP3CA CL E G H | 5530 | 442835 | | | | ORPHA | 0 | | 351 | 9314 | 114105 |
HP:0001336 | HP:0012323 | Sleep myoclonus | 1 | PPP3CA CL E G H | 5530 | 442835 | | | | ORPHA | 0 | | 351 | 9314 | 114105 |
HP:0001336 | HP:0007000 | Morning myoclonic jerks | 1 | PPP3CA CL E G H | 5530 | 442835 | | | | ORPHA | 0 | | 351 | 9314 | 114105 |
HP:0001336 | HP:0031986 | Polyminimyoclonus | 1 | PPP3CA CL E G H | 5530 | 442835 | | | | ORPHA | 0 | | 351 | 9314 | 114105 |
HP:0001336 | HP:0031986 | Polyminimyoclonus | 1 | PRKCG CL E G H | 5582 | 98763 | | | | ORPHA | 0 | | 323 | 9402 | 176980 |
HP:0001336 | HP:0007000 | Morning myoclonic jerks | 1 | PRKCG CL E G H | 5582 | 98763 | | | | ORPHA | 0 | | 323 | 9402 | 176980 |
HP:0001336 | HP:0040148 | Cortical myoclonus | 1 | PRKCG CL E G H | 5582 | 98763 | | | | ORPHA | 0 | | 323 | 9402 | 176980 |
HP:0001336 | HP:0045084 | Limb myoclonus | 1 | PRKCG CL E G H | 5582 | 98763 | | | | ORPHA | 0 | | 323 | 9402 | 176980 |
HP:0001336 | HP:0010530 | Palatal myoclonus | 1 | PRKCG CL E G H | 5582 | 98763 | | | | ORPHA | 0 | | 323 | 9402 | 176980 |
HP:0001336 | HP:0010531 | Spinal myoclonus | 1 | PRKCG CL E G H | 5582 | 98763 | | | | ORPHA | 0 | | 323 | 9402 | 176980 |
HP:0001336 | HP:0012462 | Chin myoclonus | 1 | PRKCG CL E G H | 5582 | 98763 | | | | ORPHA | 0 | | 323 | 9402 | 176980 |
HP:0001336 | HP:0025097 | Eyelid myoclonus | 1 | PRKCG CL E G H | 5582 | 98763 | | | | ORPHA | 0 | | 323 | 9402 | 176980 |
HP:0001336 | HP:0012323 | Sleep myoclonus | 1 | PRKCG CL E G H | 5582 | 98763 | | | | ORPHA | 0 | | 323 | 9402 | 176980 |
HP:0001336 | HP:0025357 | Erratic myoclonus | 1 | PRKCG CL E G H | 5582 | 98763 | | | | ORPHA | 0 | | 323 | 9402 | 176980 |
HP:0001336 | HP:0003739 | Myoclonic spasms | 1 | PRKCG CL E G H | 5582 | 98763 | | | | ORPHA | 0 | | 323 | 9402 | 176980 |
HP:0001336 | HP:0012323 | Sleep myoclonus | 1 | PTS CL E G H | 5805 | 13 | Brain malformation | | C0266449 | ORPHA | 0 | | 263 | 9689 | 612719 |
HP:0001336 | HP:0025357 | Erratic myoclonus | 1 | PTS CL E G H | 5805 | 13 | Brain malformation | | C0266449 | ORPHA | 0 | | 263 | 9689 | 612719 |
HP:0001336 | HP:0003739 | Myoclonic spasms | 1 | PTS CL E G H | 5805 | 13 | Brain malformation | | C0266449 | ORPHA | 0 | | 263 | 9689 | 612719 |
HP:0001336 | HP:0031986 | Polyminimyoclonus | 1 | PTS CL E G H | 5805 | 13 | Brain malformation | | C0266449 | ORPHA | 0 | | 263 | 9689 | 612719 |
HP:0001336 | HP:0007000 | Morning myoclonic jerks | 1 | PTS CL E G H | 5805 | 13 | Brain malformation | | C0266449 | ORPHA | 0 | | 263 | 9689 | 612719 |
HP:0001336 | HP:0010530 | Palatal myoclonus | 1 | PTS CL E G H | 5805 | 13 | Brain malformation | | C0266449 | ORPHA | 0 | | 263 | 9689 | 612719 |
HP:0001336 | HP:0040148 | Cortical myoclonus | 1 | PTS CL E G H | 5805 | 13 | Brain malformation | | C0266449 | ORPHA | 0 | | 263 | 9689 | 612719 |
HP:0001336 | HP:0045084 | Limb myoclonus | 1 | PTS CL E G H | 5805 | 13 | Brain malformation | | C0266449 | ORPHA | 0 | | 263 | 9689 | 612719 |
HP:0001336 | HP:0010531 | Spinal myoclonus | 1 | PTS CL E G H | 5805 | 13 | Brain malformation | | C0266449 | ORPHA | 0 | | 263 | 9689 | 612719 |
HP:0001336 | HP:0012462 | Chin myoclonus | 1 | PTS CL E G H | 5805 | 13 | Brain malformation | | C0266449 | ORPHA | 0 | | 263 | 9689 | 612719 |
HP:0001336 | HP:0025097 | Eyelid myoclonus | 1 | PTS CL E G H | 5805 | 13 | Brain malformation | | C0266449 | ORPHA | 0 | | 263 | 9689 | 612719 |
HP:0001336 | HP:0010531 | Spinal myoclonus | 1 | RMND1 CL E G H | 55005 | 614922 | Combined oxidative phosphorylation deficiency 11 | 614922 | C3554067 | OMIM | 0 | | 262 | 21176 | 614917 |
HP:0001336 | HP:0012462 | Chin myoclonus | 1 | RMND1 CL E G H | 55005 | 614922 | Combined oxidative phosphorylation deficiency 11 | 614922 | C3554067 | OMIM | 0 | | 262 | 21176 | 614917 |
HP:0001336 | HP:0025097 | Eyelid myoclonus | 1 | RMND1 CL E G H | 55005 | 614922 | Combined oxidative phosphorylation deficiency 11 | 614922 | C3554067 | OMIM | 0 | | 262 | 21176 | 614917 |
HP:0001336 | HP:0003739 | Myoclonic spasms | 1 | RMND1 CL E G H | 55005 | 614922 | Combined oxidative phosphorylation deficiency 11 | 614922 | C3554067 | OMIM | 0 | | 262 | 21176 | 614917 |
HP:0001336 | HP:0012323 | Sleep myoclonus | 1 | RMND1 CL E G H | 55005 | 614922 | Combined oxidative phosphorylation deficiency 11 | 614922 | C3554067 | OMIM | 0 | | 262 | 21176 | 614917 |
HP:0001336 | HP:0025357 | Erratic myoclonus | 1 | RMND1 CL E G H | 55005 | 614922 | Combined oxidative phosphorylation deficiency 11 | 614922 | C3554067 | OMIM | 0 | | 262 | 21176 | 614917 |
HP:0001336 | HP:0007000 | Morning myoclonic jerks | 1 | RMND1 CL E G H | 55005 | 614922 | Combined oxidative phosphorylation deficiency 11 | 614922 | C3554067 | OMIM | 0 | | 262 | 21176 | 614917 |
HP:0001336 | HP:0031986 | Polyminimyoclonus | 1 | RMND1 CL E G H | 55005 | 614922 | Combined oxidative phosphorylation deficiency 11 | 614922 | C3554067 | OMIM | 0 | | 262 | 21176 | 614917 |
HP:0001336 | HP:0045084 | Limb myoclonus | 1 | RMND1 CL E G H | 55005 | 614922 | Combined oxidative phosphorylation deficiency 11 | 614922 | C3554067 | OMIM | 0 | | 262 | 21176 | 614917 |
HP:0001336 | HP:0010530 | Palatal myoclonus | 1 | RMND1 CL E G H | 55005 | 614922 | Combined oxidative phosphorylation deficiency 11 | 614922 | C3554067 | OMIM | 0 | | 262 | 21176 | 614917 |
HP:0001336 | HP:0040148 | Cortical myoclonus | 1 | RMND1 CL E G H | 55005 | 614922 | Combined oxidative phosphorylation deficiency 11 | 614922 | C3554067 | OMIM | 0 | | 262 | 21176 | 614917 |
HP:0001336 | HP:0012323 | Sleep myoclonus | 1 | SCN3A CL E G H | 6328 | 442835 | | | | ORPHA | 0 | | 1420 | 10590 | 182391 |
HP:0001336 | HP:0025357 | Erratic myoclonus | 1 | SCN3A CL E G H | 6328 | 442835 | | | | ORPHA | 0 | | 1420 | 10590 | 182391 |
HP:0001336 | HP:0003739 | Myoclonic spasms | 1 | SCN3A CL E G H | 6328 | 442835 | | | | ORPHA | 0 | | 1420 | 10590 | 182391 |
HP:0001336 | HP:0031986 | Polyminimyoclonus | 1 | SCN3A CL E G H | 6328 | 442835 | | | | ORPHA | 0 | | 1420 | 10590 | 182391 |
HP:0001336 | HP:0007000 | Morning myoclonic jerks | 1 | SCN3A CL E G H | 6328 | 442835 | | | | ORPHA | 0 | | 1420 | 10590 | 182391 |
HP:0001336 | HP:0010530 | Palatal myoclonus | 1 | SCN3A CL E G H | 6328 | 442835 | | | | ORPHA | 0 | | 1420 | 10590 | 182391 |
HP:0001336 | HP:0040148 | Cortical myoclonus | 1 | SCN3A CL E G H | 6328 | 442835 | | | | ORPHA | 0 | | 1420 | 10590 | 182391 |
HP:0001336 | HP:0045084 | Limb myoclonus | 1 | SCN3A CL E G H | 6328 | 442835 | | | | ORPHA | 0 | | 1420 | 10590 | 182391 |
HP:0001336 | HP:0010531 | Spinal myoclonus | 1 | SCN3A CL E G H | 6328 | 442835 | | | | ORPHA | 0 | | 1420 | 10590 | 182391 |
HP:0001336 | HP:0012462 | Chin myoclonus | 1 | SCN3A CL E G H | 6328 | 442835 | | | | ORPHA | 0 | | 1420 | 10590 | 182391 |
HP:0001336 | HP:0025097 | Eyelid myoclonus | 1 | SCN3A CL E G H | 6328 | 442835 | | | | ORPHA | 0 | | 1420 | 10590 | 182391 |
HP:0001336 | HP:0040148 | Cortical myoclonus | 1 | SCN8A CL E G H | 6334 | 442835 | | | | ORPHA | 0 | | 1799 | 10596 | 600702 |
HP:0001336 | HP:0045084 | Limb myoclonus | 1 | SCN8A CL E G H | 6334 | 442835 | | | | ORPHA | 0 | | 1799 | 10596 | 600702 |
HP:0001336 | HP:0010530 | Palatal myoclonus | 1 | SCN8A CL E G H | 6334 | 442835 | | | | ORPHA | 0 | | 1799 | 10596 | 600702 |
HP:0001336 | HP:0010531 | Spinal myoclonus | 1 | SCN8A CL E G H | 6334 | 442835 | | | | ORPHA | 0 | | 1799 | 10596 | 600702 |
HP:0001336 | HP:0012462 | Chin myoclonus | 1 | SCN8A CL E G H | 6334 | 442835 | | | | ORPHA | 0 | | 1799 | 10596 | 600702 |
HP:0001336 | HP:0025097 | Eyelid myoclonus | 1 | SCN8A CL E G H | 6334 | 442835 | | | | ORPHA | 0 | | 1799 | 10596 | 600702 |
HP:0001336 | HP:0025357 | Erratic myoclonus | 1 | SCN8A CL E G H | 6334 | 442835 | | | | ORPHA | 0 | | 1799 | 10596 | 600702 |
HP:0001336 | HP:0003739 | Myoclonic spasms | 1 | SCN8A CL E G H | 6334 | 442835 | | | | ORPHA | 0 | | 1799 | 10596 | 600702 |
HP:0001336 | HP:0012323 | Sleep myoclonus | 1 | SCN8A CL E G H | 6334 | 442835 | | | | ORPHA | 0 | | 1799 | 10596 | 600702 |
HP:0001336 | HP:0007000 | Morning myoclonic jerks | 1 | SCN8A CL E G H | 6334 | 442835 | | | | ORPHA | 0 | | 1799 | 10596 | 600702 |
HP:0001336 | HP:0031986 | Polyminimyoclonus | 1 | SCN8A CL E G H | 6334 | 442835 | | | | ORPHA | 0 | | 1799 | 10596 | 600702 |
HP:0001336 | HP:0025357 | Erratic myoclonus | 1 | SLC13A5 CL E G H | 284111 | 442835 | | | | ORPHA | 0 | | 685 | 23089 | 608305 |
HP:0001336 | HP:0003739 | Myoclonic spasms | 1 | SLC13A5 CL E G H | 284111 | 442835 | | | | ORPHA | 0 | | 685 | 23089 | 608305 |
HP:0001336 | HP:0012323 | Sleep myoclonus | 1 | SLC13A5 CL E G H | 284111 | 442835 | | | | ORPHA | 0 | | 685 | 23089 | 608305 |
HP:0001336 | HP:0007000 | Morning myoclonic jerks | 1 | SLC13A5 CL E G H | 284111 | 442835 | | | | ORPHA | 0 | | 685 | 23089 | 608305 |
HP:0001336 | HP:0031986 | Polyminimyoclonus | 1 | SLC13A5 CL E G H | 284111 | 442835 | | | | ORPHA | 0 | | 685 | 23089 | 608305 |
HP:0001336 | HP:0040148 | Cortical myoclonus | 1 | SLC13A5 CL E G H | 284111 | 442835 | | | | ORPHA | 0 | | 685 | 23089 | 608305 |
HP:0001336 | HP:0045084 | Limb myoclonus | 1 | SLC13A5 CL E G H | 284111 | 442835 | | | | ORPHA | 0 | | 685 | 23089 | 608305 |
HP:0001336 | HP:0010530 | Palatal myoclonus | 1 | SLC13A5 CL E G H | 284111 | 442835 | | | | ORPHA | 0 | | 685 | 23089 | 608305 |
HP:0001336 | HP:0012462 | Chin myoclonus | 1 | SLC13A5 CL E G H | 284111 | 442835 | | | | ORPHA | 0 | | 685 | 23089 | 608305 |
HP:0001336 | HP:0025097 | Eyelid myoclonus | 1 | SLC13A5 CL E G H | 284111 | 442835 | | | | ORPHA | 0 | | 685 | 23089 | 608305 |
HP:0001336 | HP:0010531 | Spinal myoclonus | 1 | SLC13A5 CL E G H | 284111 | 442835 | | | | ORPHA | 0 | | 685 | 23089 | 608305 |
HP:0001336 | HP:0045084 | Limb myoclonus | 1 | SLC1A2 CL E G H | 6506 | 442835 | | | | ORPHA | 0 | | 359 | 10940 | 600300 |
HP:0001336 | HP:0010530 | Palatal myoclonus | 1 | SLC1A2 CL E G H | 6506 | 442835 | | | | ORPHA | 0 | | 359 | 10940 | 600300 |
HP:0001336 | HP:0040148 | Cortical myoclonus | 1 | SLC1A2 CL E G H | 6506 | 442835 | | | | ORPHA | 0 | | 359 | 10940 | 600300 |
HP:0001336 | HP:0025097 | Eyelid myoclonus | 1 | SLC1A2 CL E G H | 6506 | 442835 | | | | ORPHA | 0 | | 359 | 10940 | 600300 |
HP:0001336 | HP:0010531 | Spinal myoclonus | 1 | SLC1A2 CL E G H | 6506 | 442835 | | | | ORPHA | 0 | | 359 | 10940 | 600300 |
HP:0001336 | HP:0012462 | Chin myoclonus | 1 | SLC1A2 CL E G H | 6506 | 442835 | | | | ORPHA | 0 | | 359 | 10940 | 600300 |
HP:0001336 | HP:0025357 | Erratic myoclonus | 1 | SLC1A2 CL E G H | 6506 | 442835 | | | | ORPHA | 0 | | 359 | 10940 | 600300 |
HP:0001336 | HP:0003739 | Myoclonic spasms | 1 | SLC1A2 CL E G H | 6506 | 442835 | | | | ORPHA | 0 | | 359 | 10940 | 600300 |
HP:0001336 | HP:0012323 | Sleep myoclonus | 1 | SLC1A2 CL E G H | 6506 | 442835 | | | | ORPHA | 0 | | 359 | 10940 | 600300 |
HP:0001336 | HP:0007000 | Morning myoclonic jerks | 1 | SLC1A2 CL E G H | 6506 | 442835 | | | | ORPHA | 0 | | 359 | 10940 | 600300 |
HP:0001336 | HP:0031986 | Polyminimyoclonus | 1 | SLC1A2 CL E G H | 6506 | 442835 | | | | ORPHA | 0 | | 359 | 10940 | 600300 |
HP:0001336 | HP:0007000 | Morning myoclonic jerks | 1 | SLC2A1 CL E G H | 6513 | 71277 | | | | ORPHA | 0 | | 965 | 11005 | 138140 |
HP:0001336 | HP:0031986 | Polyminimyoclonus | 1 | SLC2A1 CL E G H | 6513 | 71277 | | | | ORPHA | 0 | | 965 | 11005 | 138140 |
HP:0001336 | HP:0040148 | Cortical myoclonus | 1 | SLC2A1 CL E G H | 6513 | 71277 | | | | ORPHA | 0 | | 965 | 11005 | 138140 |
HP:0001336 | HP:0045084 | Limb myoclonus | 1 | SLC2A1 CL E G H | 6513 | 71277 | | | | ORPHA | 0 | | 965 | 11005 | 138140 |
HP:0001336 | HP:0010530 | Palatal myoclonus | 1 | SLC2A1 CL E G H | 6513 | 71277 | | | | ORPHA | 0 | | 965 | 11005 | 138140 |
HP:0001336 | HP:0025097 | Eyelid myoclonus | 1 | SLC2A1 CL E G H | 6513 | 71277 | | | | ORPHA | 0 | | 965 | 11005 | 138140 |
HP:0001336 | HP:0010531 | Spinal myoclonus | 1 | SLC2A1 CL E G H | 6513 | 71277 | | | | ORPHA | 0 | | 965 | 11005 | 138140 |
HP:0001336 | HP:0012462 | Chin myoclonus | 1 | SLC2A1 CL E G H | 6513 | 71277 | | | | ORPHA | 0 | | 965 | 11005 | 138140 |
HP:0001336 | HP:0025357 | Erratic myoclonus | 1 | SLC2A1 CL E G H | 6513 | 71277 | | | | ORPHA | 0 | | 965 | 11005 | 138140 |
HP:0001336 | HP:0003739 | Myoclonic spasms | 1 | SLC2A1 CL E G H | 6513 | 71277 | | | | ORPHA | 0 | | 965 | 11005 | 138140 |
HP:0001336 | HP:0012323 | Sleep myoclonus | 1 | SLC2A1 CL E G H | 6513 | 71277 | | | | ORPHA | 0 | | 965 | 11005 | 138140 |
HP:0001336 | HP:0010531 | Spinal myoclonus | 1 | SLC6A1 CL E G H | 6529 | 1942 | | | | ORPHA | 0 | | 809 | 11042 | 137165 |
HP:0001336 | HP:0025097 | Eyelid myoclonus | 1 | SLC6A1 CL E G H | 6529 | 1942 | | | | ORPHA | 0 | | 809 | 11042 | 137165 |
HP:0001336 | HP:0040148 | Cortical myoclonus | 1 | SLC6A1 CL E G H | 6529 | 1942 | | | | ORPHA | 0 | | 809 | 11042 | 137165 |
HP:0001336 | HP:0003739 | Myoclonic spasms | 1 | SLC6A1 CL E G H | 6529 | 1942 | | | | ORPHA | 0 | | 809 | 11042 | 137165 |
HP:0001336 | HP:0012323 | Sleep myoclonus | 1 | SLC6A1 CL E G H | 6529 | 1942 | | | | ORPHA | 0 | | 809 | 11042 | 137165 |
HP:0001336 | HP:0025357 | Erratic myoclonus | 1 | SLC6A1 CL E G H | 6529 | 1942 | | | | ORPHA | 0 | | 809 | 11042 | 137165 |
HP:0001336 | HP:0012462 | Chin myoclonus | 1 | SLC6A1 CL E G H | 6529 | 1942 | | | | ORPHA | 0 | | 809 | 11042 | 137165 |
HP:0001336 | HP:0031986 | Polyminimyoclonus | 1 | SLC6A1 CL E G H | 6529 | 1942 | | | | ORPHA | 0 | | 809 | 11042 | 137165 |
HP:0001336 | HP:0007000 | Morning myoclonic jerks | 1 | SLC6A1 CL E G H | 6529 | 1942 | | | | ORPHA | 0 | | 809 | 11042 | 137165 |
HP:0001336 | HP:0010530 | Palatal myoclonus | 1 | SLC6A1 CL E G H | 6529 | 1942 | | | | ORPHA | 0 | | 809 | 11042 | 137165 |
HP:0001336 | HP:0045084 | Limb myoclonus | 1 | SLC6A1 CL E G H | 6529 | 1942 | | | | ORPHA | 0 | | 809 | 11042 | 137165 |
HP:0001336 | HP:0010530 | Palatal myoclonus | 1 | STXBP1 CL E G H | 6812 | 442835 | | | | ORPHA | 0 | | 1017 | 11444 | 602926 |
HP:0001336 | HP:0025357 | Erratic myoclonus | 1 | STXBP1 CL E G H | 6812 | 442835 | | | | ORPHA | 0 | | 1017 | 11444 | 602926 |
HP:0001336 | HP:0010531 | Spinal myoclonus | 1 | STXBP1 CL E G H | 6812 | 442835 | | | | ORPHA | 0 | | 1017 | 11444 | 602926 |
HP:0001336 | HP:0007000 | Morning myoclonic jerks | 1 | STXBP1 CL E G H | 6812 | 442835 | | | | ORPHA | 0 | | 1017 | 11444 | 602926 |
HP:0001336 | HP:0003739 | Myoclonic spasms | 1 | STXBP1 CL E G H | 6812 | 442835 | | | | ORPHA | 0 | | 1017 | 11444 | 602926 |
HP:0001336 | HP:0012323 | Sleep myoclonus | 1 | STXBP1 CL E G H | 6812 | 442835 | | | | ORPHA | 0 | | 1017 | 11444 | 602926 |
HP:0001336 | HP:0040148 | Cortical myoclonus | 1 | STXBP1 CL E G H | 6812 | 442835 | | | | ORPHA | 0 | | 1017 | 11444 | 602926 |
HP:0001336 | HP:0045084 | Limb myoclonus | 1 | STXBP1 CL E G H | 6812 | 442835 | | | | ORPHA | 0 | | 1017 | 11444 | 602926 |
HP:0001336 | HP:0031986 | Polyminimyoclonus | 1 | STXBP1 CL E G H | 6812 | 442835 | | | | ORPHA | 0 | | 1017 | 11444 | 602926 |
HP:0001336 | HP:0012462 | Chin myoclonus | 1 | STXBP1 CL E G H | 6812 | 442835 | | | | ORPHA | 0 | | 1017 | 11444 | 602926 |
HP:0001336 | HP:0025097 | Eyelid myoclonus | 1 | STXBP1 CL E G H | 6812 | 442835 | | | | ORPHA | 0 | | 1017 | 11444 | 602926 |
HP:0001336 | HP:0025357 | Erratic myoclonus | 1 | SYNGAP1 CL E G H | 8831 | 442835 | | | | ORPHA | 0 | | 1335 | 11497 | 603384 |
HP:0001336 | HP:0003739 | Myoclonic spasms | 1 | SYNGAP1 CL E G H | 8831 | 442835 | | | | ORPHA | 0 | | 1335 | 11497 | 603384 |
HP:0001336 | HP:0012323 | Sleep myoclonus | 1 | SYNGAP1 CL E G H | 8831 | 442835 | | | | ORPHA | 0 | | 1335 | 11497 | 603384 |
HP:0001336 | HP:0007000 | Morning myoclonic jerks | 1 | SYNGAP1 CL E G H | 8831 | 442835 | | | | ORPHA | 0 | | 1335 | 11497 | 603384 |
HP:0001336 | HP:0031986 | Polyminimyoclonus | 1 | SYNGAP1 CL E G H | 8831 | 442835 | | | | ORPHA | 0 | | 1335 | 11497 | 603384 |
HP:0001336 | HP:0040148 | Cortical myoclonus | 1 | SYNGAP1 CL E G H | 8831 | 442835 | | | | ORPHA | 0 | | 1335 | 11497 | 603384 |
HP:0001336 | HP:0045084 | Limb myoclonus | 1 | SYNGAP1 CL E G H | 8831 | 442835 | | | | ORPHA | 0 | | 1335 | 11497 | 603384 |
HP:0001336 | HP:0010530 | Palatal myoclonus | 1 | SYNGAP1 CL E G H | 8831 | 442835 | | | | ORPHA | 0 | | 1335 | 11497 | 603384 |
HP:0001336 | HP:0010531 | Spinal myoclonus | 1 | SYNGAP1 CL E G H | 8831 | 442835 | | | | ORPHA | 0 | | 1335 | 11497 | 603384 |
HP:0001336 | HP:0012462 | Chin myoclonus | 1 | SYNGAP1 CL E G H | 8831 | 442835 | | | | ORPHA | 0 | | 1335 | 11497 | 603384 |
HP:0001336 | HP:0025097 | Eyelid myoclonus | 1 | SYNGAP1 CL E G H | 8831 | 442835 | | | | ORPHA | 0 | | 1335 | 11497 | 603384 |
HP:0001336 | HP:0040148 | Cortical myoclonus | 1 | SYNJ1 CL E G H | 8867 | 442835 | | | | ORPHA | 0 | | 1315 | 11503 | 604297 |
HP:0001336 | HP:0045084 | Limb myoclonus | 1 | SYNJ1 CL E G H | 8867 | 442835 | | | | ORPHA | 0 | | 1315 | 11503 | 604297 |
HP:0001336 | HP:0010530 | Palatal myoclonus | 1 | SYNJ1 CL E G H | 8867 | 442835 | | | | ORPHA | 0 | | 1315 | 11503 | 604297 |
HP:0001336 | HP:0025357 | Erratic myoclonus | 1 | SYNJ1 CL E G H | 8867 | 391411 | | | | ORPHA | 0 | | 1315 | 11503 | 604297 |
HP:0001336 | HP:0003739 | Myoclonic spasms | 1 | SYNJ1 CL E G H | 8867 | 391411 | | | | ORPHA | 0 | | 1315 | 11503 | 604297 |
HP:0001336 | HP:0012323 | Sleep myoclonus | 1 | SYNJ1 CL E G H | 8867 | 391411 | | | | ORPHA | 0 | | 1315 | 11503 | 604297 |
HP:0001336 | HP:0012462 | Chin myoclonus | 1 | SYNJ1 CL E G H | 8867 | 442835 | | | | ORPHA | 0 | | 1315 | 11503 | 604297 |
HP:0001336 | HP:0025097 | Eyelid myoclonus | 1 | SYNJ1 CL E G H | 8867 | 442835 | | | | ORPHA | 0 | | 1315 | 11503 | 604297 |
HP:0001336 | HP:0010531 | Spinal myoclonus | 1 | SYNJ1 CL E G H | 8867 | 442835 | | | | ORPHA | 0 | | 1315 | 11503 | 604297 |
HP:0001336 | HP:0007000 | Morning myoclonic jerks | 1 | SYNJ1 CL E G H | 8867 | 391411 | | | | ORPHA | 0 | | 1315 | 11503 | 604297 |
HP:0001336 | HP:0031986 | Polyminimyoclonus | 1 | SYNJ1 CL E G H | 8867 | 391411 | | | | ORPHA | 0 | | 1315 | 11503 | 604297 |
HP:0001336 | HP:0025357 | Erratic myoclonus | 1 | SYNJ1 CL E G H | 8867 | 442835 | | | | ORPHA | 0 | | 1315 | 11503 | 604297 |
HP:0001336 | HP:0003739 | Myoclonic spasms | 1 | SYNJ1 CL E G H | 8867 | 442835 | | | | ORPHA | 0 | | 1315 | 11503 | 604297 |
HP:0001336 | HP:0012323 | Sleep myoclonus | 1 | SYNJ1 CL E G H | 8867 | 442835 | | | | ORPHA | 0 | | 1315 | 11503 | 604297 |
HP:0001336 | HP:0040148 | Cortical myoclonus | 1 | SYNJ1 CL E G H | 8867 | 391411 | | | | ORPHA | 0 | | 1315 | 11503 | 604297 |
HP:0001336 | HP:0045084 | Limb myoclonus | 1 | SYNJ1 CL E G H | 8867 | 391411 | | | | ORPHA | 0 | | 1315 | 11503 | 604297 |
HP:0001336 | HP:0010530 | Palatal myoclonus | 1 | SYNJ1 CL E G H | 8867 | 391411 | | | | ORPHA | 0 | | 1315 | 11503 | 604297 |
HP:0001336 | HP:0007000 | Morning myoclonic jerks | 1 | SYNJ1 CL E G H | 8867 | 442835 | | | | ORPHA | 0 | | 1315 | 11503 | 604297 |
HP:0001336 | HP:0031986 | Polyminimyoclonus | 1 | SYNJ1 CL E G H | 8867 | 442835 | | | | ORPHA | 0 | | 1315 | 11503 | 604297 |
HP:0001336 | HP:0012462 | Chin myoclonus | 1 | SYNJ1 CL E G H | 8867 | 391411 | | | | ORPHA | 0 | | 1315 | 11503 | 604297 |
HP:0001336 | HP:0025097 | Eyelid myoclonus | 1 | SYNJ1 CL E G H | 8867 | 391411 | | | | ORPHA | 0 | | 1315 | 11503 | 604297 |
HP:0001336 | HP:0010531 | Spinal myoclonus | 1 | SYNJ1 CL E G H | 8867 | 391411 | | | | ORPHA | 0 | | 1315 | 11503 | 604297 |
HP:0001336 | HP:0025357 | Erratic myoclonus | 1 | SZT2 CL E G H | 23334 | 442835 | | | | ORPHA | 0 | | 2862 | 29040 | 615463 |
HP:0001336 | HP:0003739 | Myoclonic spasms | 1 | SZT2 CL E G H | 23334 | 442835 | | | | ORPHA | 0 | | 2862 | 29040 | 615463 |
HP:0001336 | HP:0012323 | Sleep myoclonus | 1 | SZT2 CL E G H | 23334 | 442835 | | | | ORPHA | 0 | | 2862 | 29040 | 615463 |
HP:0001336 | HP:0007000 | Morning myoclonic jerks | 1 | SZT2 CL E G H | 23334 | 442835 | | | | ORPHA | 0 | | 2862 | 29040 | 615463 |
HP:0001336 | HP:0031986 | Polyminimyoclonus | 1 | SZT2 CL E G H | 23334 | 442835 | | | | ORPHA | 0 | | 2862 | 29040 | 615463 |
HP:0001336 | HP:0045084 | Limb myoclonus | 1 | SZT2 CL E G H | 23334 | 442835 | | | | ORPHA | 0 | | 2862 | 29040 | 615463 |
HP:0001336 | HP:0010530 | Palatal myoclonus | 1 | SZT2 CL E G H | 23334 | 442835 | | | | ORPHA | 0 | | 2862 | 29040 | 615463 |
HP:0001336 | HP:0040148 | Cortical myoclonus | 1 | SZT2 CL E G H | 23334 | 442835 | | | | ORPHA | 0 | | 2862 | 29040 | 615463 |
HP:0001336 | HP:0025097 | Eyelid myoclonus | 1 | SZT2 CL E G H | 23334 | 442835 | | | | ORPHA | 0 | | 2862 | 29040 | 615463 |
HP:0001336 | HP:0010531 | Spinal myoclonus | 1 | SZT2 CL E G H | 23334 | 442835 | | | | ORPHA | 0 | | 2862 | 29040 | 615463 |
HP:0001336 | HP:0012462 | Chin myoclonus | 1 | SZT2 CL E G H | 23334 | 442835 | | | | ORPHA | 0 | | 2862 | 29040 | 615463 |
HP:0001336 | HP:0012462 | Chin myoclonus | 1 | TBC1D24 CL E G H | 57465 | 79500 | | | | ORPHA | 0 | | 893 | 29203 | 613577 |
HP:0001336 | HP:0025097 | Eyelid myoclonus | 1 | TBC1D24 CL E G H | 57465 | 79500 | | | | ORPHA | 0 | | 893 | 29203 | 613577 |
HP:0001336 | HP:0010531 | Spinal myoclonus | 1 | TBC1D24 CL E G H | 57465 | 79500 | | | | ORPHA | 0 | | 893 | 29203 | 613577 |
HP:0001336 | HP:0025357 | Erratic myoclonus | 1 | TBC1D24 CL E G H | 57465 | 79500 | | | | ORPHA | 0 | | 893 | 29203 | 613577 |
HP:0001336 | HP:0003739 | Myoclonic spasms | 1 | TBC1D24 CL E G H | 57465 | 79500 | | | | ORPHA | 0 | | 893 | 29203 | 613577 |
HP:0001336 | HP:0012323 | Sleep myoclonus | 1 | TBC1D24 CL E G H | 57465 | 79500 | | | | ORPHA | 0 | | 893 | 29203 | 613577 |
HP:0001336 | HP:0007000 | Morning myoclonic jerks | 1 | TBC1D24 CL E G H | 57465 | 79500 | | | | ORPHA | 0 | | 893 | 29203 | 613577 |
HP:0001336 | HP:0031986 | Polyminimyoclonus | 1 | TBC1D24 CL E G H | 57465 | 79500 | | | | ORPHA | 0 | | 893 | 29203 | 613577 |
HP:0001336 | HP:0040148 | Cortical myoclonus | 1 | TBC1D24 CL E G H | 57465 | 79500 | | | | ORPHA | 0 | | 893 | 29203 | 613577 |
HP:0001336 | HP:0045084 | Limb myoclonus | 1 | TBC1D24 CL E G H | 57465 | 79500 | | | | ORPHA | 0 | | 893 | 29203 | 613577 |
HP:0001336 | HP:0010530 | Palatal myoclonus | 1 | TBC1D24 CL E G H | 57465 | 79500 | | | | ORPHA | 0 | | 893 | 29203 | 613577 |
HP:0001336 | HP:0010531 | Spinal myoclonus | 1 | TH CL E G H | 7054 | 605407 | Segawa syndrome, autosomal recessive | 605407 | C1854299 | OMIM | 0 | | 967 | 11782 | 191290 |
HP:0001336 | HP:0012462 | Chin myoclonus | 1 | TH CL E G H | 7054 | 605407 | Segawa syndrome, autosomal recessive | 605407 | C1854299 | OMIM | 0 | | 967 | 11782 | 191290 |
HP:0001336 | HP:0025097 | Eyelid myoclonus | 1 | TH CL E G H | 7054 | 605407 | Segawa syndrome, autosomal recessive | 605407 | C1854299 | OMIM | 0 | | 967 | 11782 | 191290 |
HP:0001336 | HP:0012323 | Sleep myoclonus | 1 | TH CL E G H | 7054 | 605407 | Segawa syndrome, autosomal recessive | 605407 | C1854299 | OMIM | 0 | | 967 | 11782 | 191290 |
HP:0001336 | HP:0025357 | Erratic myoclonus | 1 | TH CL E G H | 7054 | 605407 | Segawa syndrome, autosomal recessive | 605407 | C1854299 | OMIM | 0 | | 967 | 11782 | 191290 |
HP:0001336 | HP:0003739 | Myoclonic spasms | 1 | TH CL E G H | 7054 | 605407 | Segawa syndrome, autosomal recessive | 605407 | C1854299 | OMIM | 0 | | 967 | 11782 | 191290 |
HP:0001336 | HP:0031986 | Polyminimyoclonus | 1 | TH CL E G H | 7054 | 605407 | Segawa syndrome, autosomal recessive | 605407 | C1854299 | OMIM | 0 | | 967 | 11782 | 191290 |
HP:0001336 | HP:0007000 | Morning myoclonic jerks | 1 | TH CL E G H | 7054 | 605407 | Segawa syndrome, autosomal recessive | 605407 | C1854299 | OMIM | 0 | | 967 | 11782 | 191290 |
HP:0001336 | HP:0010530 | Palatal myoclonus | 1 | TH CL E G H | 7054 | 605407 | Segawa syndrome, autosomal recessive | 605407 | C1854299 | OMIM | 0 | | 967 | 11782 | 191290 |
HP:0001336 | HP:0040148 | Cortical myoclonus | 1 | TH CL E G H | 7054 | 605407 | Segawa syndrome, autosomal recessive | 605407 | C1854299 | OMIM | 0 | | 967 | 11782 | 191290 |
HP:0001336 | HP:0045084 | Limb myoclonus | 1 | TH CL E G H | 7054 | 605407 | Segawa syndrome, autosomal recessive | 605407 | C1854299 | OMIM | 0 | | 967 | 11782 | 191290 |
HP:0001336 | HP:0012462 | Chin myoclonus | 1 | THAP1 CL E G H | 55145 | 602629 | Dystonia 6, torsion | 602629 | C1414216 | OMIM | 0 | | 206 | 20856 | 609520 |
HP:0001336 | HP:0025097 | Eyelid myoclonus | 1 | THAP1 CL E G H | 55145 | 602629 | Dystonia 6, torsion | 602629 | C1414216 | OMIM | 0 | | 206 | 20856 | 609520 |
HP:0001336 | HP:0010531 | Spinal myoclonus | 1 | THAP1 CL E G H | 55145 | 602629 | Dystonia 6, torsion | 602629 | C1414216 | OMIM | 0 | | 206 | 20856 | 609520 |
HP:0001336 | HP:0025357 | Erratic myoclonus | 1 | THAP1 CL E G H | 55145 | 602629 | Dystonia 6, torsion | 602629 | C1414216 | OMIM | 0 | | 206 | 20856 | 609520 |
HP:0001336 | HP:0003739 | Myoclonic spasms | 1 | THAP1 CL E G H | 55145 | 602629 | Dystonia 6, torsion | 602629 | C1414216 | OMIM | 0 | | 206 | 20856 | 609520 |
HP:0001336 | HP:0012323 | Sleep myoclonus | 1 | THAP1 CL E G H | 55145 | 602629 | Dystonia 6, torsion | 602629 | C1414216 | OMIM | 0 | | 206 | 20856 | 609520 |
HP:0001336 | HP:0007000 | Morning myoclonic jerks | 1 | THAP1 CL E G H | 55145 | 602629 | Dystonia 6, torsion | 602629 | C1414216 | OMIM | 0 | | 206 | 20856 | 609520 |
HP:0001336 | HP:0031986 | Polyminimyoclonus | 1 | THAP1 CL E G H | 55145 | 602629 | Dystonia 6, torsion | 602629 | C1414216 | OMIM | 0 | | 206 | 20856 | 609520 |
HP:0001336 | HP:0040148 | Cortical myoclonus | 1 | THAP1 CL E G H | 55145 | 602629 | Dystonia 6, torsion | 602629 | C1414216 | OMIM | 0 | | 206 | 20856 | 609520 |
HP:0001336 | HP:0045084 | Limb myoclonus | 1 | THAP1 CL E G H | 55145 | 602629 | Dystonia 6, torsion | 602629 | C1414216 | OMIM | 0 | | 206 | 20856 | 609520 |
HP:0001336 | HP:0010530 | Palatal myoclonus | 1 | THAP1 CL E G H | 55145 | 602629 | Dystonia 6, torsion | 602629 | C1414216 | OMIM | 0 | | 206 | 20856 | 609520 |
HP:0001336 | HP:0010530 | Palatal myoclonus | 1 | TRAK1 CL E G H | 22906 | 442835 | | | | ORPHA | 0 | | 208 | 29947 | 608112 |
HP:0001336 | HP:0040148 | Cortical myoclonus | 1 | TRAK1 CL E G H | 22906 | 442835 | | | | ORPHA | 0 | | 208 | 29947 | 608112 |
HP:0001336 | HP:0045084 | Limb myoclonus | 1 | TRAK1 CL E G H | 22906 | 442835 | | | | ORPHA | 0 | | 208 | 29947 | 608112 |
HP:0001336 | HP:0010531 | Spinal myoclonus | 1 | TRAK1 CL E G H | 22906 | 442835 | | | | ORPHA | 0 | | 208 | 29947 | 608112 |
HP:0001336 | HP:0012462 | Chin myoclonus | 1 | TRAK1 CL E G H | 22906 | 442835 | | | | ORPHA | 0 | | 208 | 29947 | 608112 |
HP:0001336 | HP:0025097 | Eyelid myoclonus | 1 | TRAK1 CL E G H | 22906 | 442835 | | | | ORPHA | 0 | | 208 | 29947 | 608112 |
HP:0001336 | HP:0003739 | Myoclonic spasms | 1 | TRAK1 CL E G H | 22906 | 442835 | | | | ORPHA | 0 | | 208 | 29947 | 608112 |
HP:0001336 | HP:0012323 | Sleep myoclonus | 1 | TRAK1 CL E G H | 22906 | 442835 | | | | ORPHA | 0 | | 208 | 29947 | 608112 |
HP:0001336 | HP:0025357 | Erratic myoclonus | 1 | TRAK1 CL E G H | 22906 | 442835 | | | | ORPHA | 0 | | 208 | 29947 | 608112 |
HP:0001336 | HP:0031986 | Polyminimyoclonus | 1 | TRAK1 CL E G H | 22906 | 442835 | | | | ORPHA | 0 | | 208 | 29947 | 608112 |
HP:0001336 | HP:0007000 | Morning myoclonic jerks | 1 | TRAK1 CL E G H | 22906 | 442835 | | | | ORPHA | 0 | | 208 | 29947 | 608112 |
HP:0001336 | HP:0025357 | Erratic myoclonus | 1 | UBA5 CL E G H | 79876 | 442835 | | | | ORPHA | 0 | | 223 | 23230 | 610552 |
HP:0001336 | HP:0003739 | Myoclonic spasms | 1 | UBA5 CL E G H | 79876 | 442835 | | | | ORPHA | 0 | | 223 | 23230 | 610552 |
HP:0001336 | HP:0012323 | Sleep myoclonus | 1 | UBA5 CL E G H | 79876 | 442835 | | | | ORPHA | 0 | | 223 | 23230 | 610552 |
HP:0001336 | HP:0007000 | Morning myoclonic jerks | 1 | UBA5 CL E G H | 79876 | 442835 | | | | ORPHA | 0 | | 223 | 23230 | 610552 |
HP:0001336 | HP:0031986 | Polyminimyoclonus | 1 | UBA5 CL E G H | 79876 | 442835 | | | | ORPHA | 0 | | 223 | 23230 | 610552 |
HP:0001336 | HP:0040148 | Cortical myoclonus | 1 | UBA5 CL E G H | 79876 | 442835 | | | | ORPHA | 0 | | 223 | 23230 | 610552 |
HP:0001336 | HP:0045084 | Limb myoclonus | 1 | UBA5 CL E G H | 79876 | 442835 | | | | ORPHA | 0 | | 223 | 23230 | 610552 |
HP:0001336 | HP:0010530 | Palatal myoclonus | 1 | UBA5 CL E G H | 79876 | 442835 | | | | ORPHA | 0 | | 223 | 23230 | 610552 |
HP:0001336 | HP:0010531 | Spinal myoclonus | 1 | UBA5 CL E G H | 79876 | 442835 | | | | ORPHA | 0 | | 223 | 23230 | 610552 |
HP:0001336 | HP:0012462 | Chin myoclonus | 1 | UBA5 CL E G H | 79876 | 442835 | | | | ORPHA | 0 | | 223 | 23230 | 610552 |
HP:0001336 | HP:0025097 | Eyelid myoclonus | 1 | UBA5 CL E G H | 79876 | 442835 | | | | ORPHA | 0 | | 223 | 23230 | 610552 |
HP:0001336 | HP:0040148 | Cortical myoclonus | 1 | WWOX CL E G H | 51741 | 442835 | | | | ORPHA | 0 | | 1102 | 12799 | 605131 |
HP:0001336 | HP:0045084 | Limb myoclonus | 1 | WWOX CL E G H | 51741 | 442835 | | | | ORPHA | 0 | | 1102 | 12799 | 605131 |
HP:0001336 | HP:0010530 | Palatal myoclonus | 1 | WWOX CL E G H | 51741 | 442835 | | | | ORPHA | 0 | | 1102 | 12799 | 605131 |
HP:0001336 | HP:0012462 | Chin myoclonus | 1 | WWOX CL E G H | 51741 | 442835 | | | | ORPHA | 0 | | 1102 | 12799 | 605131 |
HP:0001336 | HP:0025097 | Eyelid myoclonus | 1 | WWOX CL E G H | 51741 | 442835 | | | | ORPHA | 0 | | 1102 | 12799 | 605131 |
HP:0001336 | HP:0010531 | Spinal myoclonus | 1 | WWOX CL E G H | 51741 | 442835 | | | | ORPHA | 0 | | 1102 | 12799 | 605131 |
HP:0001336 | HP:0025357 | Erratic myoclonus | 1 | WWOX CL E G H | 51741 | 442835 | | | | ORPHA | 0 | | 1102 | 12799 | 605131 |
HP:0001336 | HP:0003739 | Myoclonic spasms | 1 | WWOX CL E G H | 51741 | 442835 | | | | ORPHA | 0 | | 1102 | 12799 | 605131 |
HP:0001336 | HP:0012323 | Sleep myoclonus | 1 | WWOX CL E G H | 51741 | 442835 | | | | ORPHA | 0 | | 1102 | 12799 | 605131 |
HP:0001336 | HP:0007000 | Morning myoclonic jerks | 1 | WWOX CL E G H | 51741 | 442835 | | | | ORPHA | 0 | | 1102 | 12799 | 605131 |
HP:0001336 | HP:0031986 | Polyminimyoclonus | 1 | WWOX CL E G H | 51741 | 442835 | | | | ORPHA | 0 | | 1102 | 12799 | 605131 |
HP:0001336 | HP:0025357 | Erratic myoclonus | 1 | YWHAG CL E G H | 7532 | 442835 | | | | ORPHA | 0 | | 189 | 12852 | 605356 |
HP:0001336 | HP:0003739 | Myoclonic spasms | 1 | YWHAG CL E G H | 7532 | 442835 | | | | ORPHA | 0 | | 189 | 12852 | 605356 |
HP:0001336 | HP:0012323 | Sleep myoclonus | 1 | YWHAG CL E G H | 7532 | 442835 | | | | ORPHA | 0 | | 189 | 12852 | 605356 |
HP:0001336 | HP:0007000 | Morning myoclonic jerks | 1 | YWHAG CL E G H | 7532 | 442835 | | | | ORPHA | 0 | | 189 | 12852 | 605356 |
HP:0001336 | HP:0031986 | Polyminimyoclonus | 1 | YWHAG CL E G H | 7532 | 442835 | | | | ORPHA | 0 | | 189 | 12852 | 605356 |
HP:0001336 | HP:0045084 | Limb myoclonus | 1 | YWHAG CL E G H | 7532 | 442835 | | | | ORPHA | 0 | | 189 | 12852 | 605356 |
HP:0001336 | HP:0010530 | Palatal myoclonus | 1 | YWHAG CL E G H | 7532 | 442835 | | | | ORPHA | 0 | | 189 | 12852 | 605356 |
HP:0001336 | HP:0040148 | Cortical myoclonus | 1 | YWHAG CL E G H | 7532 | 442835 | | | | ORPHA | 0 | | 189 | 12852 | 605356 |
HP:0001336 | HP:0025097 | Eyelid myoclonus | 1 | YWHAG CL E G H | 7532 | 442835 | | | | ORPHA | 0 | | 189 | 12852 | 605356 |
HP:0001336 | HP:0010531 | Spinal myoclonus | 1 | YWHAG CL E G H | 7532 | 442835 | | | | ORPHA | 0 | | 189 | 12852 | 605356 |
HP:0001336 | HP:0012462 | Chin myoclonus | 1 | YWHAG CL E G H | 7532 | 442835 | | | | ORPHA | 0 | | 189 | 12852 | 605356 |
HP:0001336 | HP:0010828 | Hemifacial spasm | 2 | AARS CL E G H | 16 | 442835 | | | | ORPHA | 0 | | | 20 | 601065 |
HP:0001336 | HP:0033054 | Myoclonic tremor | 2 | AARS CL E G H | 16 | 442835 | | | | ORPHA | 0 | | | 20 | 601065 |
HP:0001336 | HP:0010828 | Hemifacial spasm | 2 | ADAR CL E G H | 103 | 225154 | | | | ORPHA | 0 | | 1122 | 225 | 146920 |
HP:0001336 | HP:0033054 | Myoclonic tremor | 2 | ADAR CL E G H | 103 | 225154 | | | | ORPHA | 0 | | 1122 | 225 | 146920 |
HP:0001336 | HP:0010828 | Hemifacial spasm | 2 | ANO3 CL E G H | 63982 | 420485 | | | | ORPHA | 0 | | 477 | 14004 | 610110 |
HP:0001336 | HP:0033054 | Myoclonic tremor | 2 | ANO3 CL E G H | 63982 | 420485 | | | | ORPHA | 0 | | 477 | 14004 | 610110 |
HP:0001336 | HP:0033054 | Myoclonic tremor | 2 | AP3B2 CL E G H | 8120 | 442835 | | | | ORPHA | 0 | | 690 | 567 | 602166 |
HP:0001336 | HP:0010828 | Hemifacial spasm | 2 | AP3B2 CL E G H | 8120 | 442835 | | | | ORPHA | 0 | | 690 | 567 | 602166 |
HP:0001336 | HP:0010828 | Hemifacial spasm | 2 | ARV1 CL E G H | 64801 | 442835 | | | | ORPHA | 0 | | 89 | 29561 | 611647 |
HP:0001336 | HP:0033054 | Myoclonic tremor | 2 | ARV1 CL E G H | 64801 | 442835 | | | | ORPHA | 0 | | 89 | 29561 | 611647 |
HP:0001336 | HP:0010828 | Hemifacial spasm | 2 | ATN1 CL E G H | 1822 | 125370 | Dentatorubral pallidoluysian atrophy | 125370 | C0751781 | OMIM | 0 | | 213 | 3033 | 607462 |
HP:0001336 | HP:0033054 | Myoclonic tremor | 2 | ATN1 CL E G H | 1822 | 125370 | Dentatorubral pallidoluysian atrophy | 125370 | C0751781 | OMIM | 0 | | 213 | 3033 | 607462 |
HP:0001336 | HP:0033054 | Myoclonic tremor | 2 | ATP6V1A CL E G H | 523 | 442835 | | | | ORPHA | 0 | | 229 | 851 | 607027 |
HP:0001336 | HP:0010828 | Hemifacial spasm | 2 | ATP6V1A CL E G H | 523 | 442835 | | | | ORPHA | 0 | | 229 | 851 | 607027 |
HP:0001336 | HP:0033054 | Myoclonic tremor | 2 | BOLA3 CL E G H | 388962 | 614299 | Multiple mitochondrial dysfunctions syndrome 2 | 614299 | C3280378 | OMIM | 0 | | 102 | 24415 | 613183 |
HP:0001336 | HP:0010828 | Hemifacial spasm | 2 | BOLA3 CL E G H | 388962 | 614299 | Multiple mitochondrial dysfunctions syndrome 2 | 614299 | C3280378 | OMIM | 0 | | 102 | 24415 | 613183 |
HP:0001336 | HP:0033054 | Myoclonic tremor | 2 | C9orf72 CL E G H | 203228 | 401901 | | | | ORPHA | 0 | | 177 | 28337 | 614260 |
HP:0001336 | HP:0010828 | Hemifacial spasm | 2 | C9orf72 CL E G H | 203228 | 401901 | | | | ORPHA | 0 | | 177 | 28337 | 614260 |
HP:0001336 | HP:0010828 | Hemifacial spasm | 2 | CACNA1A CL E G H | 773 | 442835 | | | | ORPHA | 0 | | 3248 | 1388 | 601011 |
HP:0001336 | HP:0033054 | Myoclonic tremor | 2 | CACNA1A CL E G H | 773 | 442835 | | | | ORPHA | 0 | | 3248 | 1388 | 601011 |
HP:0001336 | HP:0033054 | Myoclonic tremor | 2 | CHD2 CL E G H | 1106 | 1942 | | | | ORPHA | 0 | | 1838 | 1917 | 602119 |
HP:0001336 | HP:0010828 | Hemifacial spasm | 2 | CHD2 CL E G H | 1106 | 1942 | | | | ORPHA | 0 | | 1838 | 1917 | 602119 |
HP:0001336 | HP:0033054 | Myoclonic tremor | 2 | CLTC CL E G H | 1213 | 442835 | | | | ORPHA | 0 | | 645 | 2092 | 118955 |
HP:0001336 | HP:0010828 | Hemifacial spasm | 2 | CLTC CL E G H | 1213 | 442835 | | | | ORPHA | 0 | | 645 | 2092 | 118955 |
HP:0001336 | HP:0010828 | Hemifacial spasm | 2 | CNKSR2 CL E G H | 22866 | 442835 | | | | ORPHA | 0 | | 306 | 19701 | 300724 |
HP:0001336 | HP:0033054 | Myoclonic tremor | 2 | CNKSR2 CL E G H | 22866 | 442835 | | | | ORPHA | 0 | | 306 | 19701 | 300724 |
HP:0001336 | HP:0033054 | Myoclonic tremor | 2 | COQ8A CL E G H | 56997 | 139485 | | | | ORPHA | 0 | | 699 | 16812 | 606980 |
HP:0001336 | HP:0010828 | Hemifacial spasm | 2 | COQ8A CL E G H | 56997 | 139485 | | | | ORPHA | 0 | | 699 | 16812 | 606980 |
HP:0001336 | HP:0010828 | Hemifacial spasm | 2 | COQ8A CL E G H | 56997 | 612016 | Coenzyme Q10 deficiency, primary, 4 | 612016 | C2677589 | OMIM | 0 | | 699 | 16812 | 606980 |
HP:0001336 | HP:0033054 | Myoclonic tremor | 2 | COQ8A CL E G H | 56997 | 612016 | Coenzyme Q10 deficiency, primary, 4 | 612016 | C2677589 | OMIM | 0 | | 699 | 16812 | 606980 |
HP:0001336 | HP:0033054 | Myoclonic tremor | 2 | CYFIP2 CL E G H | 26999 | 442835 | | | | ORPHA | 0 | | 668 | 13760 | 606323 |
HP:0001336 | HP:0010828 | Hemifacial spasm | 2 | CYFIP2 CL E G H | 26999 | 442835 | | | | ORPHA | 0 | | 668 | 13760 | 606323 |
HP:0001336 | HP:0010828 | Hemifacial spasm | 2 | DHDDS CL E G H | 79947 | 442835 | | | | ORPHA | 0 | | 434 | 20603 | 608172 |
HP:0001336 | HP:0033054 | Myoclonic tremor | 2 | DHDDS CL E G H | 79947 | 442835 | | | | ORPHA | 0 | | 434 | 20603 | 608172 |
HP:0001336 | HP:0033054 | Myoclonic tremor | 2 | DNAJC6 CL E G H | 9829 | 391411 | | | | ORPHA | 0 | | 310 | 15469 | 608375 |
HP:0001336 | HP:0010828 | Hemifacial spasm | 2 | DNAJC6 CL E G H | 9829 | 391411 | | | | ORPHA | 0 | | 310 | 15469 | 608375 |
HP:0001336 | HP:0033054 | Myoclonic tremor | 2 | DNM1 CL E G H | 1759 | 442835 | | | | ORPHA | 0 | | 765 | 2972 | 602377 |
HP:0001336 | HP:0010828 | Hemifacial spasm | 2 | DNM1 CL E G H | 1759 | 442835 | | | | ORPHA | 0 | | 765 | 2972 | 602377 |
HP:0001336 | HP:0010828 | Hemifacial spasm | 2 | EEF1A2 CL E G H | 1917 | 442835 | | | | ORPHA | 0 | | 575 | 3192 | 602959 |
HP:0001336 | HP:0033054 | Myoclonic tremor | 2 | EEF1A2 CL E G H | 1917 | 442835 | | | | ORPHA | 0 | | 575 | 3192 | 602959 |
HP:0001336 | HP:0010828 | Hemifacial spasm | 2 | EFHC1 CL E G H | 114327 | 1941 | | | | ORPHA | 0 | | 454 | 16406 | 608815 |
HP:0001336 | HP:0033054 | Myoclonic tremor | 2 | EFHC1 CL E G H | 114327 | 1941 | | | | ORPHA | 0 | | 454 | 16406 | 608815 |
HP:0001336 | HP:0033054 | Myoclonic tremor | 2 | FGF12 CL E G H | 2257 | 442835 | | | | ORPHA | 0 | | 259 | 3668 | 601513 |
HP:0001336 | HP:0010828 | Hemifacial spasm | 2 | FGF12 CL E G H | 2257 | 442835 | | | | ORPHA | 0 | | 259 | 3668 | 601513 |
HP:0001336 | HP:0010828 | Hemifacial spasm | 2 | GABRB2 CL E G H | 2561 | 442835 | | | | ORPHA | 0 | | 494 | 4082 | 600232 |
HP:0001336 | HP:0033054 | Myoclonic tremor | 2 | GABRB2 CL E G H | 2561 | 442835 | | | | ORPHA | 0 | | 494 | 4082 | 600232 |
HP:0001336 | HP:0010828 | Hemifacial spasm | 2 | GLRX5 CL E G H | 51218 | 401866 | | | | ORPHA | 0 | | 111 | 20134 | 609588 |
HP:0001336 | HP:0033054 | Myoclonic tremor | 2 | GLRX5 CL E G H | 51218 | 401866 | | | | ORPHA | 0 | | 111 | 20134 | 609588 |
HP:0001336 | HP:0010828 | Hemifacial spasm | 2 | GRIA3 CL E G H | 2892 | 300699 | Mental retardation, X-linked, syndromic, wu type | 300699 | C2678051 | OMIM | 0 | | 560 | 4573 | 305915 |
HP:0001336 | HP:0033054 | Myoclonic tremor | 2 | GRIA3 CL E G H | 2892 | 300699 | Mental retardation, X-linked, syndromic, wu type | 300699 | C2678051 | OMIM | 0 | | 560 | 4573 | 305915 |
HP:0001336 | HP:0033054 | Myoclonic tremor | 2 | GRIK2 CL E G H | 2898 | 611092 | Mental retardation, autosomal recessive 6 | 611092 | C1970198 | OMIM | 0 | | 189 | 4580 | 138244 |
HP:0001336 | HP:0010828 | Hemifacial spasm | 2 | GRIK2 CL E G H | 2898 | 611092 | Mental retardation, autosomal recessive 6 | 611092 | C1970198 | OMIM | 0 | | 189 | 4580 | 138244 |
HP:0001336 | HP:0033054 | Myoclonic tremor | 2 | GRIN2D CL E G H | 2906 | 442835 | | | | ORPHA | 0 | | 823 | 4588 | 602717 |
HP:0001336 | HP:0010828 | Hemifacial spasm | 2 | GRIN2D CL E G H | 2906 | 442835 | | | | ORPHA | 0 | | 823 | 4588 | 602717 |
HP:0001336 | HP:0010828 | Hemifacial spasm | 2 | HCN1 CL E G H | 348980 | 442835 | | | | ORPHA | 0 | | 796 | 4845 | 602780 |
HP:0001336 | HP:0033054 | Myoclonic tremor | 2 | HCN1 CL E G H | 348980 | 442835 | | | | ORPHA | 0 | | 796 | 4845 | 602780 |
HP:0001336 | HP:0033054 | Myoclonic tremor | 2 | HTT CL E G H | 3064 | 248111 | | | | ORPHA | 0 | | 760 | 4851 | 613004 |
HP:0001336 | HP:0010828 | Hemifacial spasm | 2 | HTT CL E G H | 3064 | 248111 | | | | ORPHA | 0 | | 760 | 4851 | 613004 |
HP:0001336 | HP:0033054 | Myoclonic tremor | 2 | KCNA2 CL E G H | 3737 | 442835 | | | | ORPHA | 0 | | 401 | 6220 | 176262 |
HP:0001336 | HP:0010828 | Hemifacial spasm | 2 | KCNA2 CL E G H | 3737 | 442835 | | | | ORPHA | 0 | | 401 | 6220 | 176262 |
HP:0001336 | HP:0010828 | Hemifacial spasm | 2 | KCNB1 CL E G H | 3745 | 442835 | | | | ORPHA | 0 | | 635 | 6231 | 600397 |
HP:0001336 | HP:0033054 | Myoclonic tremor | 2 | KCNB1 CL E G H | 3745 | 442835 | | | | ORPHA | 0 | | 635 | 6231 | 600397 |
HP:0001336 | HP:0010828 | Hemifacial spasm | 2 | KCNC3 CL E G H | 3748 | 98768 | | | | ORPHA | 0 | | 311 | 6235 | 176264 |
HP:0001336 | HP:0033054 | Myoclonic tremor | 2 | KCNC3 CL E G H | 3748 | 98768 | | | | ORPHA | 0 | | 311 | 6235 | 176264 |
HP:0001336 | HP:0010828 | Hemifacial spasm | 2 | KMT2B CL E G H | 9757 | 617284 | Dystonia 28, childhood-onset | 617284 | C4310633 | OMIM | 0 | | 1303 | 15840 | 606834 |
HP:0001336 | HP:0033054 | Myoclonic tremor | 2 | KMT2B CL E G H | 9757 | 617284 | Dystonia 28, childhood-onset | 617284 | C4310633 | OMIM | 0 | | 1303 | 15840 | 606834 |
HP:0001336 | HP:0010828 | Hemifacial spasm | 2 | MRE11 CL E G H | 4361 | 251347 | | | | ORPHA | 0 | | 1911 | 7230 | 600814 |
HP:0001336 | HP:0033054 | Myoclonic tremor | 2 | MRE11 CL E G H | 4361 | 251347 | | | | ORPHA | 0 | | 1911 | 7230 | 600814 |
HP:0001336 | HP:0033054 | Myoclonic tremor | 2 | MT-ATP6 CL E G H | 4508 | 225154 | | | | ORPHA | 0 | | | 7414 | 516060 |
HP:0001336 | HP:0010828 | Hemifacial spasm | 2 | MT-ATP6 CL E G H | 4508 | 225154 | | | | ORPHA | 0 | | | 7414 | 516060 |
HP:0001336 | HP:0033054 | Myoclonic tremor | 2 | NECAP1 CL E G H | 25977 | 442835 | | | | ORPHA | 0 | | 221 | 24539 | 611623 |
HP:0001336 | HP:0010828 | Hemifacial spasm | 2 | NECAP1 CL E G H | 25977 | 442835 | | | | ORPHA | 0 | | 221 | 24539 | 611623 |
HP:0001336 | HP:0010828 | Hemifacial spasm | 2 | NTRK2 CL E G H | 4915 | 442835 | | | | ORPHA | 0 | | 509 | 8032 | 600456 |
HP:0001336 | HP:0033054 | Myoclonic tremor | 2 | NTRK2 CL E G H | 4915 | 442835 | | | | ORPHA | 0 | | 509 | 8032 | 600456 |
HP:0001336 | HP:0010828 | Hemifacial spasm | 2 | NUP62 CL E G H | 23636 | 225154 | | | | ORPHA | 0 | | 161 | 8066 | 605815 |
HP:0001336 | HP:0033054 | Myoclonic tremor | 2 | NUP62 CL E G H | 23636 | 225154 | | | | ORPHA | 0 | | 161 | 8066 | 605815 |
HP:0001336 | HP:0033054 | Myoclonic tremor | 2 | NUS1 CL E G H | 116150 | 442835 | | | | ORPHA | 0 | | 326 | 21042 | 610463 |
HP:0001336 | HP:0010828 | Hemifacial spasm | 2 | NUS1 CL E G H | 116150 | 442835 | | | | ORPHA | 0 | | 326 | 21042 | 610463 |
HP:0001336 | HP:0033054 | Myoclonic tremor | 2 | PLA2G6 CL E G H | 8398 | 199351 | | | | ORPHA | 0 | | 775 | 9039 | 603604 |
HP:0001336 | HP:0010828 | Hemifacial spasm | 2 | PLA2G6 CL E G H | 8398 | 199351 | | | | ORPHA | 0 | | 775 | 9039 | 603604 |
HP:0001336 | HP:0010828 | Hemifacial spasm | 2 | PODXL CL E G H | 5420 | 391411 | | | | ORPHA | 0 | | 200 | 9171 | 602632 |
HP:0001336 | HP:0033054 | Myoclonic tremor | 2 | PODXL CL E G H | 5420 | 391411 | | | | ORPHA | 0 | | 200 | 9171 | 602632 |
HP:0001336 | HP:0010828 | Hemifacial spasm | 2 | PPP3CA CL E G H | 5530 | 442835 | | | | ORPHA | 0 | | 351 | 9314 | 114105 |
HP:0001336 | HP:0033054 | Myoclonic tremor | 2 | PPP3CA CL E G H | 5530 | 442835 | | | | ORPHA | 0 | | 351 | 9314 | 114105 |
HP:0001336 | HP:0033054 | Myoclonic tremor | 2 | PRKCG CL E G H | 5582 | 98763 | | | | ORPHA | 0 | | 323 | 9402 | 176980 |
HP:0001336 | HP:0010828 | Hemifacial spasm | 2 | PRKCG CL E G H | 5582 | 98763 | | | | ORPHA | 0 | | 323 | 9402 | 176980 |
HP:0001336 | HP:0033054 | Myoclonic tremor | 2 | PTS CL E G H | 5805 | 13 | Brain malformation | | C0266449 | ORPHA | 0 | | 263 | 9689 | 612719 |
HP:0001336 | HP:0010828 | Hemifacial spasm | 2 | PTS CL E G H | 5805 | 13 | Brain malformation | | C0266449 | ORPHA | 0 | | 263 | 9689 | 612719 |
HP:0001336 | HP:0010828 | Hemifacial spasm | 2 | RMND1 CL E G H | 55005 | 614922 | Combined oxidative phosphorylation deficiency 11 | 614922 | C3554067 | OMIM | 0 | | 262 | 21176 | 614917 |
HP:0001336 | HP:0033054 | Myoclonic tremor | 2 | RMND1 CL E G H | 55005 | 614922 | Combined oxidative phosphorylation deficiency 11 | 614922 | C3554067 | OMIM | 0 | | 262 | 21176 | 614917 |
HP:0001336 | HP:0033054 | Myoclonic tremor | 2 | SCN3A CL E G H | 6328 | 442835 | | | | ORPHA | 0 | | 1420 | 10590 | 182391 |
HP:0001336 | HP:0010828 | Hemifacial spasm | 2 | SCN3A CL E G H | 6328 | 442835 | | | | ORPHA | 0 | | 1420 | 10590 | 182391 |
HP:0001336 | HP:0010828 | Hemifacial spasm | 2 | SCN8A CL E G H | 6334 | 442835 | | | | ORPHA | 0 | | 1799 | 10596 | 600702 |
HP:0001336 | HP:0033054 | Myoclonic tremor | 2 | SCN8A CL E G H | 6334 | 442835 | | | | ORPHA | 0 | | 1799 | 10596 | 600702 |
HP:0001336 | HP:0033054 | Myoclonic tremor | 2 | SLC13A5 CL E G H | 284111 | 442835 | | | | ORPHA | 0 | | 685 | 23089 | 608305 |
HP:0001336 | HP:0010828 | Hemifacial spasm | 2 | SLC13A5 CL E G H | 284111 | 442835 | | | | ORPHA | 0 | | 685 | 23089 | 608305 |
HP:0001336 | HP:0010828 | Hemifacial spasm | 2 | SLC1A2 CL E G H | 6506 | 442835 | | | | ORPHA | 0 | | 359 | 10940 | 600300 |
HP:0001336 | HP:0033054 | Myoclonic tremor | 2 | SLC1A2 CL E G H | 6506 | 442835 | | | | ORPHA | 0 | | 359 | 10940 | 600300 |
HP:0001336 | HP:0033054 | Myoclonic tremor | 2 | SLC2A1 CL E G H | 6513 | 71277 | | | | ORPHA | 0 | | 965 | 11005 | 138140 |
HP:0001336 | HP:0010828 | Hemifacial spasm | 2 | SLC2A1 CL E G H | 6513 | 71277 | | | | ORPHA | 0 | | 965 | 11005 | 138140 |
HP:0001336 | HP:0010828 | Hemifacial spasm | 2 | SLC6A1 CL E G H | 6529 | 1942 | | | | ORPHA | 0 | | 809 | 11042 | 137165 |
HP:0001336 | HP:0033054 | Myoclonic tremor | 2 | SLC6A1 CL E G H | 6529 | 1942 | | | | ORPHA | 0 | | 809 | 11042 | 137165 |
HP:0001336 | HP:0010828 | Hemifacial spasm | 2 | STXBP1 CL E G H | 6812 | 442835 | | | | ORPHA | 0 | | 1017 | 11444 | 602926 |
HP:0001336 | HP:0033054 | Myoclonic tremor | 2 | STXBP1 CL E G H | 6812 | 442835 | | | | ORPHA | 0 | | 1017 | 11444 | 602926 |
HP:0001336 | HP:0033054 | Myoclonic tremor | 2 | SYNGAP1 CL E G H | 8831 | 442835 | | | | ORPHA | 0 | | 1335 | 11497 | 603384 |
HP:0001336 | HP:0010828 | Hemifacial spasm | 2 | SYNGAP1 CL E G H | 8831 | 442835 | | | | ORPHA | 0 | | 1335 | 11497 | 603384 |
HP:0001336 | HP:0010828 | Hemifacial spasm | 2 | SYNJ1 CL E G H | 8867 | 442835 | | | | ORPHA | 0 | | 1315 | 11503 | 604297 |
HP:0001336 | HP:0033054 | Myoclonic tremor | 2 | SYNJ1 CL E G H | 8867 | 391411 | | | | ORPHA | 0 | | 1315 | 11503 | 604297 |
HP:0001336 | HP:0033054 | Myoclonic tremor | 2 | SYNJ1 CL E G H | 8867 | 442835 | | | | ORPHA | 0 | | 1315 | 11503 | 604297 |
HP:0001336 | HP:0010828 | Hemifacial spasm | 2 | SYNJ1 CL E G H | 8867 | 391411 | | | | ORPHA | 0 | | 1315 | 11503 | 604297 |
HP:0001336 | HP:0033054 | Myoclonic tremor | 2 | SZT2 CL E G H | 23334 | 442835 | | | | ORPHA | 0 | | 2862 | 29040 | 615463 |
HP:0001336 | HP:0010828 | Hemifacial spasm | 2 | SZT2 CL E G H | 23334 | 442835 | | | | ORPHA | 0 | | 2862 | 29040 | 615463 |
HP:0001336 | HP:0010828 | Hemifacial spasm | 2 | TBC1D24 CL E G H | 57465 | 79500 | | | | ORPHA | 0 | | 893 | 29203 | 613577 |
HP:0001336 | HP:0033054 | Myoclonic tremor | 2 | TBC1D24 CL E G H | 57465 | 79500 | | | | ORPHA | 0 | | 893 | 29203 | 613577 |
HP:0001336 | HP:0010828 | Hemifacial spasm | 2 | TH CL E G H | 7054 | 605407 | Segawa syndrome, autosomal recessive | 605407 | C1854299 | OMIM | 0 | | 967 | 11782 | 191290 |
HP:0001336 | HP:0033054 | Myoclonic tremor | 2 | TH CL E G H | 7054 | 605407 | Segawa syndrome, autosomal recessive | 605407 | C1854299 | OMIM | 0 | | 967 | 11782 | 191290 |
HP:0001336 | HP:0010828 | Hemifacial spasm | 2 | THAP1 CL E G H | 55145 | 602629 | Dystonia 6, torsion | 602629 | C1414216 | OMIM | 0 | | 206 | 20856 | 609520 |
HP:0001336 | HP:0033054 | Myoclonic tremor | 2 | THAP1 CL E G H | 55145 | 602629 | Dystonia 6, torsion | 602629 | C1414216 | OMIM | 0 | | 206 | 20856 | 609520 |
HP:0001336 | HP:0010828 | Hemifacial spasm | 2 | TRAK1 CL E G H | 22906 | 442835 | | | | ORPHA | 0 | | 208 | 29947 | 608112 |
HP:0001336 | HP:0033054 | Myoclonic tremor | 2 | TRAK1 CL E G H | 22906 | 442835 | | | | ORPHA | 0 | | 208 | 29947 | 608112 |
HP:0001336 | HP:0033054 | Myoclonic tremor | 2 | UBA5 CL E G H | 79876 | 442835 | | | | ORPHA | 0 | | 223 | 23230 | 610552 |
HP:0001336 | HP:0010828 | Hemifacial spasm | 2 | UBA5 CL E G H | 79876 | 442835 | | | | ORPHA | 0 | | 223 | 23230 | 610552 |
HP:0001336 | HP:0010828 | Hemifacial spasm | 2 | WWOX CL E G H | 51741 | 442835 | | | | ORPHA | 0 | | 1102 | 12799 | 605131 |
HP:0001336 | HP:0033054 | Myoclonic tremor | 2 | WWOX CL E G H | 51741 | 442835 | | | | ORPHA | 0 | | 1102 | 12799 | 605131 |
HP:0001336 | HP:0033054 | Myoclonic tremor | 2 | YWHAG CL E G H | 7532 | 442835 | | | | ORPHA | 0 | | 189 | 12852 | 605356 |
HP:0001336 | HP:0010828 | Hemifacial spasm | 2 | YWHAG CL E G H | 7532 | 442835 | | | | ORPHA | 0 | | 189 | 12852 | 605356 |