Human Phenotype Ontology 
Grandparent Node:
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Abnormality of movement (HP:0100022)help
Parent Node:
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Involuntary movements (HP:0004305)help
..Starting node
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Myoclonus (HP:0001336)help
Term ID: 1336
Name: Myoclonus
Synonym: Involuntary jerking movements; Jerking; Myoclonic jerks
Definition: Very brief, involuntary random muscular contractions occurring at rest, in response to sensory stimuli, or accompanying voluntary movements.
Comments:
Reference: HP:0001336
Genes and Diseases:
 
       Child Nodes:
........expandMyoclonic spasms (HP:0003739) help
................... HP:0010828 Hemifacial spasm
........expandMorning myoclonic jerks (HP:0007000) help
........expandPalatal myoclonus (HP:0010530) help
........expandSpinal myoclonus (HP:0010531) help
........expandSleep myoclonus (HP:0012323) help
........expandChin myoclonus (HP:0012462) help
........expandEyelid myoclonus (HP:0025097) help
........expandErratic myoclonus (HP:0025357) help
........expandCortical myoclonus (HP:0040148) help
........expandLimb myoclonus (HP:0045084) help

 Sister Nodes: 
..expandAthetosis (HP:0002305) help
..expandChorea (HP:0002072) help
..expandClonus (HP:0002169) help
..expandFasciculations (HP:0002380) help
..expandHemiballismus (HP:0100248) help
..expandIntermittent painful muscle spasms (HP:0011964) help
..expandParoxysmal dyskinesia (HP:0007166) help
..expandSelf-mutilation of tongue and lips due to involuntary movements (HP:0008767) help
..expandStereotypy (HP:0000733) help
..expandTics (HP:0100033) help
..expandTremor (HP:0001337) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0001336HP:0001336Myoclonus0ABCA7 CL E G H103471020ORPHA126937605414
HP:0001336HP:0001336Myoclonus0ADCY5 CL E G H111324588ORPHA1653236600293
HP:0001336HP:0001336Myoclonus0ADRA2B CL E G H15186814ORPHA192282104260
HP:0001336HP:0001336Myoclonus0ADRA2B CL E G H151607876Epilepsy, familial adult myoclonic 2607876C1842852OMIM192282104260
HP:0001336HP:0001336Myoclonus0ADSL CL E G H158103050Adenylosuccinate lyase deficiency103050C0268126OMIM1808291608222
HP:0001336HP:0001336Myoclonus0AFG3L2 CL E G H10939313772ORPHA1480315604581
HP:0001336HP:0001336Myoclonus0AFG3L2 CL E G H10939614487Spastic ataxia 5, autosomal recessive614487C3280977OMIM1480315604581
HP:0001336HP:0001336Myoclonus0AMT CL E G H275605899Non-ketotic hyperglycinemia605899C0751748OMIM1591473238310
HP:0001336HP:0001336Myoclonus0AP5Z1 CL E G H9907306511ORPHA1102122197613653
HP:0001336HP:0001336Myoclonus0APP CL E G H3511020ORPHA1506620104760
HP:0001336HP:0001336Myoclonus0APP CL E G H351324708ORPHA1506620104760
HP:0001336HP:0001336Myoclonus0ARX CL E G H1703023451Meier Blumberg Imahorn syndromeORPHA181018060300382
HP:0001336HP:0001336Myoclonus0ASAH1 CL E G H427159950Jankovic Rivera syndrome159950C1834569OMIM1913735613468
HP:0001336HP:0001336Myoclonus0ATAD1 CL E G H84896618011HYPEREKPLEXIA 4618011CN248518OMIM118325903614452
HP:0001336HP:0001336Myoclonus0ATAD1 CL E G H848963197Lateral body wall defectORPHA118325903614452
HP:0001336HP:0001336Myoclonus0ATM CL E G H472208900Ataxia-telangiectasia syndrome208900C0004135OMIM114692795607585
HP:0001336HP:0001336Myoclonus0ATN1 CL E G H1822101ORPHA12133033607462
HP:0001336HP:0001336Myoclonus0ATP13A2 CL E G H23400314632ORPHA197430213610513
HP:0001336HP:0001336Myoclonus0ATP13A2 CL E G H23400306674ORPHA197430213610513
HP:0001336HP:0001336Myoclonus0ATP13A2 CL E G H23400606693Parkinson disease 9606693C1847640OMIM197430213610513
HP:0001336HP:0001336Myoclonus0ATXN2 CL E G H6311183090Spinocerebellar ataxia 2183090C0752121OMIM111510555601517
HP:0001336HP:0001336Myoclonus0BSCL2 CL E G H26580363400ORPHA151015832606158
HP:0001336HP:0001336Myoclonus0BSCL2 CL E G H26580615924Encephalopathy, progressive, with or without lipodystrophy615924C4014700OMIM151015832606158
HP:0001336HP:0001336Myoclonus0CACNA1B CL E G H774614860Dystonia 23614860C3538999OMIM112881389601012
HP:0001336HP:0001336Myoclonus0CACNA1E CL E G H777618285618285618285OMIM115831392601013
HP:0001336HP:0001336Myoclonus0CARS2 CL E G H79587616672Combined oxidative phosphorylation deficiency 27616672C4225251OMIM182525695612800
HP:0001336HP:0001336Myoclonus0CCDC88A CL E G H55704617507PEHO-like syndrome617507C1850056OMIM183825523609736
HP:0001336HP:0001336Myoclonus0CDKL5 CL E G H6792300672Early infantile epileptic encephalopathy 2300672C1839333OMIM1173811411300203
HP:0001336HP:0001336Myoclonus0CDKL5 CL E G H67923451Meier Blumberg Imahorn syndromeORPHA1173811411300203
HP:0001336HP:0001336Myoclonus0CERS1 CL E G H10715616230Epilepsy, progressive myoclonic 8616230C4015619OMIM141114253606919
HP:0001336HP:0001336Myoclonus0CHD2 CL E G H11062382ORPHA118381917602119
HP:0001336HP:0001336Myoclonus0CHMP2B CL E G H25978600795Frontotemporal Dementia, Chromosome 3-Linked600795C1833296OMIM116024537609512
HP:0001336HP:0001336Myoclonus0CIZ1 CL E G H25792420492ORPHA135216744611420
HP:0001336HP:0001336Myoclonus0CLN3 CL E G H1201204200Juvenile neuronal ceroid lipofuscinosis204200C0751383OMIM110152074607042
HP:0001336HP:0001336Myoclonus0CLN5 CL E G H1203256731Ceroid lipofuscinosis neuronal 5256731C1850442OMIM17022076608102
HP:0001336HP:0001336Myoclonus0CLN6 CL E G H54982204300Adult neuronal ceroid lipofuscinosis204300C0022797OMIM16612077606725
HP:0001336HP:0001336Myoclonus0CLN8 CL E G H2055600143Ceroid lipofuscinosis neuronal 8600143C1838570OMIM16402079607837
HP:0001336HP:0001336Myoclonus0CNPY3 CL E G H106953451Meier Blumberg Imahorn syndromeORPHA14411968610774
HP:0001336HP:0001336Myoclonus0CNTN2 CL E G H690086814ORPHA16762172190197
HP:0001336HP:0001336Myoclonus0CPLX1 CL E G H10815352582ORPHA12062309605032
HP:0001336HP:0001336Myoclonus0CSTB CL E G H1476254800Unverricht-Lundborg syndrome254800C0751785OMIM12612482601145
HP:0001336HP:0001336Myoclonus0CTNND2 CL E G H150186814ORPHA13512516604275
HP:0001336HP:0001336Myoclonus0CTSF CL E G H8722615362Ceroid lipofuscinosis, neuronal, 13615362C3715049OMIM12182531603539
HP:0001336HP:0001336Myoclonus0CUX2 CL E G H233162382ORPHA122719347610648
HP:0001336HP:0001336Myoclonus0CYP27A1 CL E G H1593909ORPHA19402605606530
HP:0001336HP:0001336Myoclonus0DAB1 CL E G H1600363710ORPHA11072661603448
HP:0001336HP:0001336Myoclonus0DDC CL E G H1644608643Deficiency of aromatic-L-amino-acid decarboxylase608643C1291564OMIM15032719107930
HP:0001336HP:0001336Myoclonus0DENND5A CL E G H23258617281Epileptic encephalopathy, early infantile, 49617281C4310635OMIM146319344617278
HP:0001336HP:0001336Myoclonus0DNAJC5 CL E G H80331162350Ceroid lipofuscinosis neuronal 4B autosomal dominant162350C1834207OMIM142816235611203
HP:0001336HP:0001336Myoclonus0DNM1 CL E G H17592382ORPHA17652972602377
HP:0001336HP:0001336Myoclonus0EPM2A CL E G H7957254780Lafora disease254780C0751783OMIM14163413607566
HP:0001336HP:0001336Myoclonus0FARS2 CL E G H10667614946Combined oxidative phosphorylation deficiency 14614946C3554168OMIM156421062611592
HP:0001336HP:0001336Myoclonus0FBXO7 CL E G H25793171695ORPHA124313586605648
HP:0001336HP:0001336Myoclonus0FOXRED1 CL E G H55572618241MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 19618241OMIM132326927613622
HP:0001336HP:0001336Myoclonus0FRRS1L CL E G H23732616981Epileptic encephalopathy, early infantile, 37616981C4310770OMIM14021362604574
HP:0001336HP:0001336Myoclonus0GABRB2 CL E G H2561617829EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 2617829CN757794OMIM14944082600232
HP:0001336HP:0001336Myoclonus0GABRB3 CL E G H25622382ORPHA18384083137192
HP:0001336HP:0001336Myoclonus0GAMT CL E G H2593612736Deficiency of guanidinoacetate methyltransferase612736C0574080OMIM15884136601240
HP:0001336HP:0001336Myoclonus0GBA CL E G H2629231000Subacute neuronopathic Gaucher's disease231000C0268251OMIM14177606463
HP:0001336HP:0001336Myoclonus0GCSH CL E G H2653605899Non-ketotic hyperglycinemia605899C0751748OMIM11764208238330
HP:0001336HP:0001336Myoclonus0GLDC CL E G H2731605899Non-ketotic hyperglycinemia605899C0751748OMIM122384313238300
HP:0001336HP:0001336Myoclonus0GLRA1 CL E G H2741149400Hyperekplexia hereditary149400C1835614OMIM14474326138491
HP:0001336HP:0001336Myoclonus0GLRA1 CL E G H27413197Lateral body wall defectORPHA14474326138491
HP:0001336HP:0001336Myoclonus0GLRB CL E G H2743614619Hyperekplexia 2614619C3553291OMIM13794329138492
HP:0001336HP:0001336Myoclonus0GLRB CL E G H27433197Lateral body wall defectORPHA13794329138492
HP:0001336HP:0001336Myoclonus0GLYCTK CL E G H132158220120Deficiency of glycerate kinase220120C1291386OMIM116624247610516
HP:0001336HP:0001336Myoclonus0GOSR2 CL E G H9570614018Epilepsy, progressive myoclonic 6614018C3279627OMIM13204431604027
HP:0001336HP:0001336Myoclonus0GPHN CL E G H10243149400Hyperekplexia hereditary149400C1835614OMIM1147315465603930
HP:0001336HP:0001336Myoclonus0GPHN CL E G H102433197Lateral body wall defectORPHA1147315465603930
HP:0001336HP:0001336Myoclonus0GRIN1 CL E G H2902614254Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant614254C3280282OMIM19294584138249
HP:0001336HP:0001336Myoclonus0GRIN2B CL E G H29043451Meier Blumberg Imahorn syndromeORPHA113534586138252
HP:0001336HP:0001336Myoclonus0GUF1 CL E G H60558617065Epileptic encephalopathy, early infantile, 40617065C4310737OMIM130925799617064
HP:0001336HP:0001336Myoclonus0GUF1 CL E G H605583451Meier Blumberg Imahorn syndromeORPHA130925799617064
HP:0001336HP:0001336Myoclonus0HIBCH CL E G H26275250620Beta-hydroxyisobutyryl-CoA deacylase deficiency250620C0342738OMIM12354908610690
HP:0001336HP:0001336Myoclonus0HMGCL CL E G H3155246450Deficiency of hydroxymethylglutaryl-CoA lyase246450C0268601OMIM14205005613898
HP:0001336HP:0001336Myoclonus0KCNA2 CL E G H3737616366Epileptic encephalopathy, early infantile, 32616366C4225350OMIM14016220176262
HP:0001336HP:0001336Myoclonus0KCNC1 CL E G H3746616187Epilepsy, progressive myoclonic 7616187C4015420OMIM13916233176258
HP:0001336HP:0001336Myoclonus0KCND3 CL E G H3752607346Spinocerebellar ataxia 19607346C1846367OMIM14676239605411
HP:0001336HP:0001336Myoclonus0KCNQ2 CL E G H3785306ORPHA119626296602235
HP:0001336HP:0001336Myoclonus0KCNQ3 CL E G H3786306ORPHA112276297602232
HP:0001336HP:0001336Myoclonus0KCTD17 CL E G H79734616398Dystonia 26, myoclonic616398C4225341OMIM114425705616386
HP:0001336HP:0001336Myoclonus0KIF5A CL E G H3798617235Myoclonus, intractable, neonatal617235C4310658OMIM110146323602821
HP:0001336HP:0001336Myoclonus0LIAS CL E G H11019614462Pyruvate dehydrogenase lipoic acid synthetase deficiency614462C3280887OMIM141016429607031
HP:0001336HP:0001336Myoclonus0LMNB2 CL E G H84823616540Epilepsy, progressive myoclonic, 9616540C4225289OMIM15486638150341
HP:0001336HP:0001336Myoclonus0MAPK10 CL E G H56022382ORPHA1706872602897
HP:0001336HP:0001336Myoclonus0MECP2 CL E G H4204300673Severe neonatal-onset encephalopathy with microcephaly300673C1968556OMIM119256990300005
HP:0001336HP:0001336Myoclonus0MECR CL E G H51102617282Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities617282C4310634OMIM115119691608205
HP:0001336HP:0001336Myoclonus0MT-TF CL E G H4558545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17481590070
HP:0001336HP:0001336Myoclonus0MT-TI CL E G H4565545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17488590045
HP:0001336HP:0001336Myoclonus0MT-TK CL E G H4566545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17489590060
HP:0001336HP:0001336Myoclonus0MT-TL1 CL E G H4567545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17490590050
HP:0001336HP:0001336Myoclonus0MT-TP CL E G H4571545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17494590075
HP:0001336HP:0001336Myoclonus0MTPAP CL E G H55149254343ORPHA134625532613669
HP:0001336HP:0001336Myoclonus0NAGA CL E G H466879279ORPHA12307631104170
HP:0001336HP:0001336Myoclonus0NAGA CL E G H4668609241Schindler disease, type 1609241C1836544OMIM12307631104170
HP:0001336HP:0001336Myoclonus0NDUFAF3 CL E G H25915618240MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 18618240OMIM112329918612911
HP:0001336HP:0001336Myoclonus0NDUFV1 CL E G H4723618225MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 4618225OMIM13157716161015
HP:0001336HP:0001336Myoclonus0NEU1 CL E G H4758812ORPHA11857758608272
HP:0001336HP:0001336Myoclonus0NEU1 CL E G H4758256550Sialidosis, type II256550C0268226OMIM11857758608272
HP:0001336HP:0001336Myoclonus0NGLY1 CL E G H55768615273Congenital disorder of deglycosylation615273C3808991OMIM165617646610661
HP:0001336HP:0001336Myoclonus0NHLRC1 CL E G H378884254780Lafora disease254780C0751783OMIM135121576608072
HP:0001336HP:0001336Myoclonus0NME1 CL E G H4830256700Neuroblastoma256700C0027819OMIM1167849156490
HP:0001336HP:0001336Myoclonus0NOL3 CL E G H8996614937Myoclonus, familial cortical614937C3539916OMIM1577869605235
HP:0001336HP:0001336Myoclonus0NTRK2 CL E G H49153451Meier Blumberg Imahorn syndromeORPHA15098032600456
HP:0001336HP:0001336Myoclonus0PHACTR1 CL E G H2216923451Meier Blumberg Imahorn syndromeORPHA19720990608723
HP:0001336HP:0001336Myoclonus0PIGA CL E G H52773451Meier Blumberg Imahorn syndromeORPHA14838957311770
HP:0001336HP:0001336Myoclonus0PLCB1 CL E G H232363451Meier Blumberg Imahorn syndromeORPHA1110715917607120
HP:0001336HP:0001336Myoclonus0PLPBP CL E G H11212617290Epilepsy, early-onset, vitamin b6-dependent617290C4310632OMIM12429457604436
HP:0001336HP:0001336Myoclonus0PNPO CL E G H5516379096ORPHA131730260603287
HP:0001336HP:0001336Myoclonus0PNPO CL E G H55163610090Pyridoxal 5'-phosphate-dependent epilepsy610090C1864723OMIM131730260603287
HP:0001336HP:0001336Myoclonus0POLG CL E G H5428726ORPHA123249179174763
HP:0001336HP:0001336Myoclonus0POLG CL E G H542870595ORPHA123249179174763
HP:0001336HP:0001336Myoclonus0POLG CL E G H5428203700Progressive sclerosing poliodystrophy203700C0205710OMIM123249179174763
HP:0001336HP:0001336Myoclonus0POLG CL E G H5428607459Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis607459C1843851OMIM123249179174763
HP:0001336HP:0001336Myoclonus0POMGNT1 CL E G H55624253280Muscle eye brain disease253280C0457133OMIM1117419139606822
HP:0001336HP:0001336Myoclonus0PPT1 CL E G H5538256730Ceroid lipofuscinosis neuronal 1256730C1850451OMIM16179325600722
HP:0001336HP:0001336Myoclonus0PRDM8 CL E G H56978324290ORPHA143913993616639
HP:0001336HP:0001336Myoclonus0PRDM8 CL E G H56978616640Epilepsy, progressive myoclonic, 10616640C4225258OMIM143913993616639
HP:0001336HP:0001336Myoclonus0PRNP CL E G H5621282166ORPHA11919449176640
HP:0001336HP:0001336Myoclonus0PRNP CL E G H5621600072Fatal familial insomnia600072C0206042OMIM11919449176640
HP:0001336HP:0001336Myoclonus0PRNP CL E G H5621137440Gerstmann-Straussler-Scheinker syndrome137440C0017495OMIM11919449176640
HP:0001336HP:0001336Myoclonus0PRNP CL E G H5621123400Jakob-Creutzfeldt disease123400C0022336OMIM11919449176640
HP:0001336HP:0001336Myoclonus0PRRT2 CL E G H112476306ORPHA179930500614386
HP:0001336HP:0001336Myoclonus0PSAP CL E G H5660139406ORPHA17729498176801
HP:0001336HP:0001336Myoclonus0PSAP CL E G H5660611721Combined saposin deficiency611721C2673635OMIM17729498176801
HP:0001336HP:0001336Myoclonus0PSAP CL E G H5660610539Gaucher disease, atypical, due to saposin C deficiency610539C1864651OMIM17729498176801
HP:0001336HP:0001336Myoclonus0PSEN1 CL E G H56631020ORPHA15019508104311
HP:0001336HP:0001336Myoclonus0PSEN1 CL E G H5663607822Alzheimer disease, type 3607822C1843013OMIM15019508104311
HP:0001336HP:0001336Myoclonus0PSEN2 CL E G H56641020ORPHA12799509600759
HP:0001336HP:0001336Myoclonus0PURA CL E G H5813616158Mental retardation, autosomal dominant 31616158C4015357OMIM14599701600473
HP:0001336HP:0001336Myoclonus0QDPR CL E G H5860261630Dihydropteridine reductase deficiency261630C0268465OMIM13199752612676
HP:0001336HP:0001336Myoclonus0RFT1 CL E G H91869612015Congenital disorder of glycosylation type 1N612015C2677590OMIM150530220611908
HP:0001336HP:0001336Myoclonus0SAMD12 CL E G H40147486814ORPHA17531750618073
HP:0001336HP:0001336Myoclonus0SC5D CL E G H630946059ORPHA124210547602286
HP:0001336HP:0001336Myoclonus0SCARB2 CL E G H950254900Epilepsy, progressive myoclonic 4, with or without renal failure254900C0751779OMIM14741665602257
HP:0001336HP:0001336Myoclonus0SCN1A CL E G H63232382ORPHA1403010585182389
HP:0001336HP:0001336Myoclonus0SCN2A CL E G H6326306ORPHA1228010588182390
HP:0001336HP:0001336Myoclonus0SCN2A CL E G H63263451Meier Blumberg Imahorn syndromeORPHA1228010588182390
HP:0001336HP:0001336Myoclonus0SCN8A CL E G H6334306ORPHA1179910596600702
HP:0001336HP:0001336Myoclonus0SDHA CL E G H6389252011Mitochondrial complex II deficiency252011C1855008OMIM1250310680600857
HP:0001336HP:0001336Myoclonus0SDHAF1 CL E G H644096252011Mitochondrial complex II deficiency252011C1855008OMIM17733867612848
HP:0001336HP:0001336Myoclonus0SDHD CL E G H6392252011Mitochondrial complex II deficiency252011C1855008OMIM168610683602690
HP:0001336HP:0001336Myoclonus0SERPINI1 CL E G H5274604218Encephalopathy, familial, with neuroserpin inclusion bodies604218C1858680OMIM13108943602445
HP:0001336HP:0001336Myoclonus0SGCE CL E G H8910159900Myoclonic dystonia159900C1834570OMIM156810808604149
HP:0001336HP:0001336Myoclonus0SIK1 CL E G H1500941935ORPHA190911142605705
HP:0001336HP:0001336Myoclonus0SIK1 CL E G H1500943451Meier Blumberg Imahorn syndromeORPHA190911142605705
HP:0001336HP:0001336Myoclonus0SLC25A22 CL E G H797511935ORPHA155119954609302
HP:0001336HP:0001336Myoclonus0SLC25A46 CL E G H91137616505NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB616505C4225302OMIM138525198610826
HP:0001336HP:0001336Myoclonus0SLC2A1 CL E G H6513606777GLUT1 deficiency syndrome 1606777CN030711OMIM196511005138140
HP:0001336HP:0001336Myoclonus0SLC52A2 CL E G H7958197229ORPHA152030224607882
HP:0001336HP:0001336Myoclonus0SLC52A3 CL E G H11327897229ORPHA146416187613350
HP:0001336HP:0001336Myoclonus0SLC6A5 CL E G H91523197Lateral body wall defectORPHA171811051604159
HP:0001336HP:0001336Myoclonus0SNCA CL E G H6622171695ORPHA119311138163890
HP:0001336HP:0001336Myoclonus0SNCA CL E G H6622168601Parkinson disease 1168601C1868595OMIM119311138163890
HP:0001336HP:0001336Myoclonus0SORL1 CL E G H66531020ORPHA153711185602005
HP:0001336HP:0001336Myoclonus0SPTAN1 CL E G H67093451Meier Blumberg Imahorn syndromeORPHA1226711273182810
HP:0001336HP:0001336Myoclonus0ST3GAL3 CL E G H64873451Meier Blumberg Imahorn syndromeORPHA134010866606494
HP:0001336HP:0001336Myoclonus0ST3GAL5 CL E G H8869609056Amish infantile epilepsy syndrome609056C1836824OMIM137310872604402
HP:0001336HP:0001336Myoclonus0STAMBP CL E G H10617614261Microcephaly-capillary malformation syndrome614261C3280296OMIM118616950606247
HP:0001336HP:0001336Myoclonus0STXBP1 CL E G H68123451Meier Blumberg Imahorn syndromeORPHA1101711444602926
HP:0001336HP:0001336Myoclonus0TAF1 CL E G H687253351ORPHA153411535313650
HP:0001336HP:0001336Myoclonus0TAF1 CL E G H6872314250Dystonia 3, torsion, X-linked314250C1839130OMIM153411535313650
HP:0001336HP:0001336Myoclonus0TBC1D24 CL E G H57465352582ORPHA189329203613577
HP:0001336HP:0001336Myoclonus0TBC1D24 CL E G H57465352596ORPHA189329203613577
HP:0001336HP:0001336Myoclonus0TBC1D24 CL E G H57465615338Early infantile epileptic encephalopathy 16615338C3809173OMIM189329203613577
HP:0001336HP:0001336Myoclonus0TBP CL E G H6908607136Spinocerebellar ataxia 17607136C1846707OMIM113111588600075
HP:0001336HP:0001336Myoclonus0TH CL E G H7054101150ORPHA196711782191290
HP:0001336HP:0001336Myoclonus0TMEM231 CL E G H795832752ORPHA146337234614949
HP:0001336HP:0001336Myoclonus0TOE1 CL E G H114034614969Pontocerebellar hypoplasia, type 7614969C3554226OMIM127215954613931
HP:0001336HP:0001336Myoclonus0TOMM40 CL E G H104521020ORPHA12918001608061
HP:0001336HP:0001336Myoclonus0TPP1 CL E G H1200204500Ceroid lipofuscinosis neuronal 2204500C1876161OMIM110232073607998
HP:0001336HP:0001336Myoclonus0TRAK1 CL E G H22906618201EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 68618201OMIM120829947608112
HP:0001336HP:0001336Myoclonus0TRAPPC12 CL E G H51112617669ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND SPASTICITY617669C4540059OMIM120224284614139
HP:0001336HP:0001336Myoclonus0TREM2 CL E G H542091020ORPHA115417761605086
HP:0001336HP:0001336Myoclonus0TSEN54 CL E G H283989225753Pontocerebellar hypoplasia type 4225753C1856974OMIM141427561608755
HP:0001336HP:0001336Myoclonus0TSPYL1 CL E G H7259168593ORPHA17212382604714
HP:0001336HP:0001336Myoclonus0TWNK CL E G H5665270595ORPHA14501160606075
HP:0001336HP:0001336Myoclonus0TWNK CL E G H56652607459Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis607459C1843851OMIM14501160606075
HP:0001336HP:0001336Myoclonus0TYROBP CL E G H7305221770Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy221770C1857316OMIM111012449604142
HP:0001336HP:0001336Myoclonus0VPS13D CL E G H55187607317Spinocerebellar ataxia autosomal recessive 4607317C1846492OMIM1103423595608877
HP:0001336HP:0001336Myoclonus0ZNHIT3 CL E G H9326260565PEHO syndrome260565C1850055OMIM113612309604500
HP:0001336HP:0025357Erratic myoclonus1ABCA7 CL E G H103471020ORPHA126937605414
HP:0001336HP:0003739Myoclonic spasms1ABCA7 CL E G H103471020ORPHA126937605414
HP:0001336HP:0012323Sleep myoclonus1ABCA7 CL E G H103471020ORPHA126937605414
HP:0001336HP:0007000Morning myoclonic jerks1ABCA7 CL E G H103471020ORPHA126937605414
HP:0001336HP:0031986Polyminimyoclonus1ABCA7 CL E G H103471020ORPHA126937605414
HP:0001336HP:0040148Cortical myoclonus1ABCA7 CL E G H103471020ORPHA126937605414
HP:0001336HP:0045084Limb myoclonus1ABCA7 CL E G H103471020ORPHA126937605414
HP:0001336HP:0010530Palatal myoclonus1ABCA7 CL E G H103471020ORPHA126937605414
HP:0001336HP:0012462Chin myoclonus1ABCA7 CL E G H103471020ORPHA126937605414
HP:0001336HP:0025097Eyelid myoclonus1ABCA7 CL E G H103471020ORPHA126937605414
HP:0001336HP:0010531Spinal myoclonus1ABCA7 CL E G H103471020ORPHA126937605414
HP:0001336HP:0012462Chin myoclonus1ADCY5 CL E G H111324588ORPHA1653236600293
HP:0001336HP:0025097Eyelid myoclonus1ADCY5 CL E G H111324588ORPHA1653236600293
HP:0001336HP:0010531Spinal myoclonus1ADCY5 CL E G H111324588ORPHA1653236600293
HP:0001336HP:0025357Erratic myoclonus1ADCY5 CL E G H111324588ORPHA1653236600293
HP:0001336HP:0003739Myoclonic spasms1ADCY5 CL E G H111324588ORPHA1653236600293
HP:0001336HP:0012323Sleep myoclonus1ADCY5 CL E G H111324588ORPHA1653236600293
HP:0001336HP:0007000Morning myoclonic jerks1ADCY5 CL E G H111324588ORPHA1653236600293
HP:0001336HP:0031986Polyminimyoclonus1ADCY5 CL E G H111324588ORPHA1653236600293
HP:0001336HP:0040148Cortical myoclonus1ADCY5 CL E G H111324588ORPHA1653236600293
HP:0001336HP:0045084Limb myoclonus1ADCY5 CL E G H111324588ORPHA1653236600293
HP:0001336HP:0010530Palatal myoclonus1ADCY5 CL E G H111324588ORPHA1653236600293
HP:0001336HP:0007000Morning myoclonic jerks1ADRA2B CL E G H15186814ORPHA192282104260
HP:0001336HP:0031986Polyminimyoclonus1ADRA2B CL E G H15186814ORPHA192282104260
HP:0001336HP:0040148Cortical myoclonus1ADRA2B CL E G H15186814ORPHA192282104260
HP:0001336HP:0045084Limb myoclonus1ADRA2B CL E G H15186814ORPHA192282104260
HP:0001336HP:0010530Palatal myoclonus1ADRA2B CL E G H15186814ORPHA192282104260
HP:0001336HP:0025097Eyelid myoclonus1ADRA2B CL E G H15186814ORPHA192282104260
HP:0001336HP:0010531Spinal myoclonus1ADRA2B CL E G H15186814ORPHA192282104260
HP:0001336HP:0012462Chin myoclonus1ADRA2B CL E G H15186814ORPHA192282104260
HP:0001336HP:0025357Erratic myoclonus1ADRA2B CL E G H15186814ORPHA192282104260
HP:0001336HP:0003739Myoclonic spasms1ADRA2B CL E G H15186814ORPHA192282104260
HP:0001336HP:0012323Sleep myoclonus1ADRA2B CL E G H15186814ORPHA192282104260
HP:0001336HP:0010531Spinal myoclonus1ADRA2B CL E G H151607876Epilepsy, familial adult myoclonic 2607876C1842852OMIM192282104260
HP:0001336HP:0012462Chin myoclonus1ADRA2B CL E G H151607876Epilepsy, familial adult myoclonic 2607876C1842852OMIM192282104260
HP:0001336HP:0025097Eyelid myoclonus1ADRA2B CL E G H151607876Epilepsy, familial adult myoclonic 2607876C1842852OMIM192282104260
HP:0001336HP:0012323Sleep myoclonus1ADRA2B CL E G H151607876Epilepsy, familial adult myoclonic 2607876C1842852OMIM192282104260
HP:0001336HP:0025357Erratic myoclonus1ADRA2B CL E G H151607876Epilepsy, familial adult myoclonic 2607876C1842852OMIM192282104260
HP:0001336HP:0003739Myoclonic spasms1ADRA2B CL E G H151607876Epilepsy, familial adult myoclonic 2607876C1842852OMIM192282104260
HP:0001336HP:0031986Polyminimyoclonus1ADRA2B CL E G H151607876Epilepsy, familial adult myoclonic 2607876C1842852OMIM192282104260
HP:0001336HP:0007000Morning myoclonic jerks1ADRA2B CL E G H151607876Epilepsy, familial adult myoclonic 2607876C1842852OMIM192282104260
HP:0001336HP:0010530Palatal myoclonus1ADRA2B CL E G H151607876Epilepsy, familial adult myoclonic 2607876C1842852OMIM192282104260
HP:0001336HP:0040148Cortical myoclonus1ADRA2B CL E G H151607876Epilepsy, familial adult myoclonic 2607876C1842852OMIM192282104260
HP:0001336HP:0045084Limb myoclonus1ADRA2B CL E G H151607876Epilepsy, familial adult myoclonic 2607876C1842852OMIM192282104260
HP:0001336HP:0010531Spinal myoclonus1ADSL CL E G H158103050Adenylosuccinate lyase deficiency103050C0268126OMIM1808291608222
HP:0001336HP:0012462Chin myoclonus1ADSL CL E G H158103050Adenylosuccinate lyase deficiency103050C0268126OMIM1808291608222
HP:0001336HP:0025097Eyelid myoclonus1ADSL CL E G H158103050Adenylosuccinate lyase deficiency103050C0268126OMIM1808291608222
HP:0001336HP:0003739Myoclonic spasms1ADSL CL E G H158103050Adenylosuccinate lyase deficiency103050C0268126OMIM1808291608222
HP:0001336HP:0012323Sleep myoclonus1ADSL CL E G H158103050Adenylosuccinate lyase deficiency103050C0268126OMIM1808291608222
HP:0001336HP:0025357Erratic myoclonus1ADSL CL E G H158103050Adenylosuccinate lyase deficiency103050C0268126OMIM1808291608222
HP:0001336HP:0007000Morning myoclonic jerks1ADSL CL E G H158103050Adenylosuccinate lyase deficiency103050C0268126OMIM1808291608222
HP:0001336HP:0031986Polyminimyoclonus1ADSL CL E G H158103050Adenylosuccinate lyase deficiency103050C0268126OMIM1808291608222
HP:0001336HP:0010530Palatal myoclonus1ADSL CL E G H158103050Adenylosuccinate lyase deficiency103050C0268126OMIM1808291608222
HP:0001336HP:0040148Cortical myoclonus1ADSL CL E G H158103050Adenylosuccinate lyase deficiency103050C0268126OMIM1808291608222
HP:0001336HP:0045084Limb myoclonus1ADSL CL E G H158103050Adenylosuccinate lyase deficiency103050C0268126OMIM1808291608222
HP:0001336HP:0007000Morning myoclonic jerks1AFG3L2 CL E G H10939313772ORPHA1480315604581
HP:0001336HP:0031986Polyminimyoclonus1AFG3L2 CL E G H10939313772ORPHA1480315604581
HP:0001336HP:0040148Cortical myoclonus1AFG3L2 CL E G H10939313772ORPHA1480315604581
HP:0001336HP:0045084Limb myoclonus1AFG3L2 CL E G H10939313772ORPHA1480315604581
HP:0001336HP:0010530Palatal myoclonus1AFG3L2 CL E G H10939313772ORPHA1480315604581
HP:0001336HP:0012462Chin myoclonus1AFG3L2 CL E G H10939313772ORPHA1480315604581
HP:0001336HP:0025097Eyelid myoclonus1AFG3L2 CL E G H10939313772ORPHA1480315604581
HP:0001336HP:0010531Spinal myoclonus1AFG3L2 CL E G H10939313772ORPHA1480315604581
HP:0001336HP:0025357Erratic myoclonus1AFG3L2 CL E G H10939313772ORPHA1480315604581
HP:0001336HP:0003739Myoclonic spasms1AFG3L2 CL E G H10939313772ORPHA1480315604581
HP:0001336HP:0012323Sleep myoclonus1AFG3L2 CL E G H10939313772ORPHA1480315604581
HP:0001336HP:0031986Polyminimyoclonus1AFG3L2 CL E G H10939614487Spastic ataxia 5, autosomal recessive614487C3280977OMIM1480315604581
HP:0001336HP:0007000Morning myoclonic jerks1AFG3L2 CL E G H10939614487Spastic ataxia 5, autosomal recessive614487C3280977OMIM1480315604581
HP:0001336HP:0040148Cortical myoclonus1AFG3L2 CL E G H10939614487Spastic ataxia 5, autosomal recessive614487C3280977OMIM1480315604581
HP:0001336HP:0045084Limb myoclonus1AFG3L2 CL E G H10939614487Spastic ataxia 5, autosomal recessive614487C3280977OMIM1480315604581
HP:0001336HP:0010530Palatal myoclonus1AFG3L2 CL E G H10939614487Spastic ataxia 5, autosomal recessive614487C3280977OMIM1480315604581
HP:0001336HP:0010531Spinal myoclonus1AFG3L2 CL E G H10939614487Spastic ataxia 5, autosomal recessive614487C3280977OMIM1480315604581
HP:0001336HP:0012462Chin myoclonus1AFG3L2 CL E G H10939614487Spastic ataxia 5, autosomal recessive614487C3280977OMIM1480315604581
HP:0001336HP:0025097Eyelid myoclonus1AFG3L2 CL E G H10939614487Spastic ataxia 5, autosomal recessive614487C3280977OMIM1480315604581
HP:0001336HP:0012323Sleep myoclonus1AFG3L2 CL E G H10939614487Spastic ataxia 5, autosomal recessive614487C3280977OMIM1480315604581
HP:0001336HP:0025357Erratic myoclonus1AFG3L2 CL E G H10939614487Spastic ataxia 5, autosomal recessive614487C3280977OMIM1480315604581
HP:0001336HP:0003739Myoclonic spasms1AFG3L2 CL E G H10939614487Spastic ataxia 5, autosomal recessive614487C3280977OMIM1480315604581
HP:0001336HP:0007000Morning myoclonic jerks1AMT CL E G H275605899Non-ketotic hyperglycinemia605899C0751748OMIM1591473238310
HP:0001336HP:0031986Polyminimyoclonus1AMT CL E G H275605899Non-ketotic hyperglycinemia605899C0751748OMIM1591473238310
HP:0001336HP:0040148Cortical myoclonus1AMT CL E G H275605899Non-ketotic hyperglycinemia605899C0751748OMIM1591473238310
HP:0001336HP:0045084Limb myoclonus1AMT CL E G H275605899Non-ketotic hyperglycinemia605899C0751748OMIM1591473238310
HP:0001336HP:0010530Palatal myoclonus1AMT CL E G H275605899Non-ketotic hyperglycinemia605899C0751748OMIM1591473238310
HP:0001336HP:0012462Chin myoclonus1AMT CL E G H275605899Non-ketotic hyperglycinemia605899C0751748OMIM1591473238310
HP:0001336HP:0025097Eyelid myoclonus1AMT CL E G H275605899Non-ketotic hyperglycinemia605899C0751748OMIM1591473238310
HP:0001336HP:0010531Spinal myoclonus1AMT CL E G H275605899Non-ketotic hyperglycinemia605899C0751748OMIM1591473238310
HP:0001336HP:0025357Erratic myoclonus1AMT CL E G H275605899Non-ketotic hyperglycinemia605899C0751748OMIM1591473238310
HP:0001336HP:0003739Myoclonic spasms1AMT CL E G H275605899Non-ketotic hyperglycinemia605899C0751748OMIM1591473238310
HP:0001336HP:0012323Sleep myoclonus1AMT CL E G H275605899Non-ketotic hyperglycinemia605899C0751748OMIM1591473238310
HP:0001336HP:0031986Polyminimyoclonus1AP5Z1 CL E G H9907306511ORPHA1102122197613653
HP:0001336HP:0007000Morning myoclonic jerks1AP5Z1 CL E G H9907306511ORPHA1102122197613653
HP:0001336HP:0010530Palatal myoclonus1AP5Z1 CL E G H9907306511ORPHA1102122197613653
HP:0001336HP:0040148Cortical myoclonus1AP5Z1 CL E G H9907306511ORPHA1102122197613653
HP:0001336HP:0045084Limb myoclonus1AP5Z1 CL E G H9907306511ORPHA1102122197613653
HP:0001336HP:0010531Spinal myoclonus1AP5Z1 CL E G H9907306511ORPHA1102122197613653
HP:0001336HP:0012462Chin myoclonus1AP5Z1 CL E G H9907306511ORPHA1102122197613653
HP:0001336HP:0025097Eyelid myoclonus1AP5Z1 CL E G H9907306511ORPHA1102122197613653
HP:0001336HP:0012323Sleep myoclonus1AP5Z1 CL E G H9907306511ORPHA1102122197613653
HP:0001336HP:0025357Erratic myoclonus1AP5Z1 CL E G H9907306511ORPHA1102122197613653
HP:0001336HP:0003739Myoclonic spasms1AP5Z1 CL E G H9907306511ORPHA1102122197613653
HP:0001336HP:0045084Limb myoclonus1APP CL E G H3511020ORPHA1506620104760
HP:0001336HP:0010530Palatal myoclonus1APP CL E G H3511020ORPHA1506620104760
HP:0001336HP:0040148Cortical myoclonus1APP CL E G H3511020ORPHA1506620104760
HP:0001336HP:0007000Morning myoclonic jerks1APP CL E G H351324708ORPHA1506620104760
HP:0001336HP:0031986Polyminimyoclonus1APP CL E G H351324708ORPHA1506620104760
HP:0001336HP:0025097Eyelid myoclonus1APP CL E G H3511020ORPHA1506620104760
HP:0001336HP:0010531Spinal myoclonus1APP CL E G H3511020ORPHA1506620104760
HP:0001336HP:0012462Chin myoclonus1APP CL E G H3511020ORPHA1506620104760
HP:0001336HP:0040148Cortical myoclonus1APP CL E G H351324708ORPHA1506620104760
HP:0001336HP:0045084Limb myoclonus1APP CL E G H351324708ORPHA1506620104760
HP:0001336HP:0010530Palatal myoclonus1APP CL E G H351324708ORPHA1506620104760
HP:0001336HP:0025357Erratic myoclonus1APP CL E G H3511020ORPHA1506620104760
HP:0001336HP:0003739Myoclonic spasms1APP CL E G H3511020ORPHA1506620104760
HP:0001336HP:0012323Sleep myoclonus1APP CL E G H3511020ORPHA1506620104760
HP:0001336HP:0012462Chin myoclonus1APP CL E G H351324708ORPHA1506620104760
HP:0001336HP:0025097Eyelid myoclonus1APP CL E G H351324708ORPHA1506620104760
HP:0001336HP:0010531Spinal myoclonus1APP CL E G H351324708ORPHA1506620104760
HP:0001336HP:0007000Morning myoclonic jerks1APP CL E G H3511020ORPHA1506620104760
HP:0001336HP:0031986Polyminimyoclonus1APP CL E G H3511020ORPHA1506620104760
HP:0001336HP:0025357Erratic myoclonus1APP CL E G H351324708ORPHA1506620104760
HP:0001336HP:0003739Myoclonic spasms1APP CL E G H351324708ORPHA1506620104760
HP:0001336HP:0012323Sleep myoclonus1APP CL E G H351324708ORPHA1506620104760
HP:0001336HP:0007000Morning myoclonic jerks1ARX CL E G H1703023451Meier Blumberg Imahorn syndromeORPHA181018060300382
HP:0001336HP:0031986Polyminimyoclonus1ARX CL E G H1703023451Meier Blumberg Imahorn syndromeORPHA181018060300382
HP:0001336HP:0040148Cortical myoclonus1ARX CL E G H1703023451Meier Blumberg Imahorn syndromeORPHA181018060300382
HP:0001336HP:0045084Limb myoclonus1ARX CL E G H1703023451Meier Blumberg Imahorn syndromeORPHA181018060300382
HP:0001336HP:0010530Palatal myoclonus1ARX CL E G H1703023451Meier Blumberg Imahorn syndromeORPHA181018060300382
HP:0001336HP:0010531Spinal myoclonus1ARX CL E G H1703023451Meier Blumberg Imahorn syndromeORPHA181018060300382
HP:0001336HP:0012462Chin myoclonus1ARX CL E G H1703023451Meier Blumberg Imahorn syndromeORPHA181018060300382
HP:0001336HP:0025097Eyelid myoclonus1ARX CL E G H1703023451Meier Blumberg Imahorn syndromeORPHA181018060300382
HP:0001336HP:0012323Sleep myoclonus1ARX CL E G H1703023451Meier Blumberg Imahorn syndromeORPHA181018060300382
HP:0001336HP:0025357Erratic myoclonus1ARX CL E G H1703023451Meier Blumberg Imahorn syndromeORPHA181018060300382
HP:0001336HP:0003739Myoclonic spasms1ARX CL E G H1703023451Meier Blumberg Imahorn syndromeORPHA181018060300382
HP:0001336HP:0007000Morning myoclonic jerks1ASAH1 CL E G H427159950Jankovic Rivera syndrome159950C1834569OMIM1913735613468
HP:0001336HP:0031986Polyminimyoclonus1ASAH1 CL E G H427159950Jankovic Rivera syndrome159950C1834569OMIM1913735613468
HP:0001336HP:0040148Cortical myoclonus1ASAH1 CL E G H427159950Jankovic Rivera syndrome159950C1834569OMIM1913735613468
HP:0001336HP:0045084Limb myoclonus1ASAH1 CL E G H427159950Jankovic Rivera syndrome159950C1834569OMIM1913735613468
HP:0001336HP:0010530Palatal myoclonus1ASAH1 CL E G H427159950Jankovic Rivera syndrome159950C1834569OMIM1913735613468
HP:0001336HP:0025097Eyelid myoclonus1ASAH1 CL E G H427159950Jankovic Rivera syndrome159950C1834569OMIM1913735613468
HP:0001336HP:0010531Spinal myoclonus1ASAH1 CL E G H427159950Jankovic Rivera syndrome159950C1834569OMIM1913735613468
HP:0001336HP:0012462Chin myoclonus1ASAH1 CL E G H427159950Jankovic Rivera syndrome159950C1834569OMIM1913735613468
HP:0001336HP:0025357Erratic myoclonus1ASAH1 CL E G H427159950Jankovic Rivera syndrome159950C1834569OMIM1913735613468
HP:0001336HP:0003739Myoclonic spasms1ASAH1 CL E G H427159950Jankovic Rivera syndrome159950C1834569OMIM1913735613468
HP:0001336HP:0012323Sleep myoclonus1ASAH1 CL E G H427159950Jankovic Rivera syndrome159950C1834569OMIM1913735613468
HP:0001336HP:0025357Erratic myoclonus1ATAD1 CL E G H84896618011HYPEREKPLEXIA 4618011CN248518OMIM118325903614452
HP:0001336HP:0003739Myoclonic spasms1ATAD1 CL E G H84896618011HYPEREKPLEXIA 4618011CN248518OMIM118325903614452
HP:0001336HP:0012323Sleep myoclonus1ATAD1 CL E G H84896618011HYPEREKPLEXIA 4618011CN248518OMIM118325903614452
HP:0001336HP:0007000Morning myoclonic jerks1ATAD1 CL E G H84896618011HYPEREKPLEXIA 4618011CN248518OMIM118325903614452
HP:0001336HP:0031986Polyminimyoclonus1ATAD1 CL E G H84896618011HYPEREKPLEXIA 4618011CN248518OMIM118325903614452
HP:0001336HP:0040148Cortical myoclonus1ATAD1 CL E G H84896618011HYPEREKPLEXIA 4618011CN248518OMIM118325903614452
HP:0001336HP:0045084Limb myoclonus1ATAD1 CL E G H84896618011HYPEREKPLEXIA 4618011CN248518OMIM118325903614452
HP:0001336HP:0010530Palatal myoclonus1ATAD1 CL E G H84896618011HYPEREKPLEXIA 4618011CN248518OMIM118325903614452
HP:0001336HP:0012462Chin myoclonus1ATAD1 CL E G H84896618011HYPEREKPLEXIA 4618011CN248518OMIM118325903614452
HP:0001336HP:0025097Eyelid myoclonus1ATAD1 CL E G H84896618011HYPEREKPLEXIA 4618011CN248518OMIM118325903614452
HP:0001336HP:0010531Spinal myoclonus1ATAD1 CL E G H84896618011HYPEREKPLEXIA 4618011CN248518OMIM118325903614452
HP:0001336HP:0010531Spinal myoclonus1ATAD1 CL E G H848963197Lateral body wall defectORPHA118325903614452
HP:0001336HP:0012462Chin myoclonus1ATAD1 CL E G H848963197Lateral body wall defectORPHA118325903614452
HP:0001336HP:0025097Eyelid myoclonus1ATAD1 CL E G H848963197Lateral body wall defectORPHA118325903614452
HP:0001336HP:0003739Myoclonic spasms1ATAD1 CL E G H848963197Lateral body wall defectORPHA118325903614452
HP:0001336HP:0012323Sleep myoclonus1ATAD1 CL E G H848963197Lateral body wall defectORPHA118325903614452
HP:0001336HP:0025357Erratic myoclonus1ATAD1 CL E G H848963197Lateral body wall defectORPHA118325903614452
HP:0001336HP:0031986Polyminimyoclonus1ATAD1 CL E G H848963197Lateral body wall defectORPHA118325903614452
HP:0001336HP:0007000Morning myoclonic jerks1ATAD1 CL E G H848963197Lateral body wall defectORPHA118325903614452
HP:0001336HP:0010530Palatal myoclonus1ATAD1 CL E G H848963197Lateral body wall defectORPHA118325903614452
HP:0001336HP:0040148Cortical myoclonus1ATAD1 CL E G H848963197Lateral body wall defectORPHA118325903614452
HP:0001336HP:0045084Limb myoclonus1ATAD1 CL E G H848963197Lateral body wall defectORPHA118325903614452
HP:0001336HP:0007000Morning myoclonic jerks1ATM CL E G H472208900Ataxia-telangiectasia syndrome208900C0004135OMIM114692795607585
HP:0001336HP:0031986Polyminimyoclonus1ATM CL E G H472208900Ataxia-telangiectasia syndrome208900C0004135OMIM114692795607585
HP:0001336HP:0040148Cortical myoclonus1ATM CL E G H472208900Ataxia-telangiectasia syndrome208900C0004135OMIM114692795607585
HP:0001336HP:0045084Limb myoclonus1ATM CL E G H472208900Ataxia-telangiectasia syndrome208900C0004135OMIM114692795607585
HP:0001336HP:0010530Palatal myoclonus1ATM CL E G H472208900Ataxia-telangiectasia syndrome208900C0004135OMIM114692795607585
HP:0001336HP:0025097Eyelid myoclonus1ATM CL E G H472208900Ataxia-telangiectasia syndrome208900C0004135OMIM114692795607585
HP:0001336HP:0010531Spinal myoclonus1ATM CL E G H472208900Ataxia-telangiectasia syndrome208900C0004135OMIM114692795607585
HP:0001336HP:0012462Chin myoclonus1ATM CL E G H472208900Ataxia-telangiectasia syndrome208900C0004135OMIM114692795607585
HP:0001336HP:0025357Erratic myoclonus1ATM CL E G H472208900Ataxia-telangiectasia syndrome208900C0004135OMIM114692795607585
HP:0001336HP:0003739Myoclonic spasms1ATM CL E G H472208900Ataxia-telangiectasia syndrome208900C0004135OMIM114692795607585
HP:0001336HP:0012323Sleep myoclonus1ATM CL E G H472208900Ataxia-telangiectasia syndrome208900C0004135OMIM114692795607585
HP:0001336HP:0040148Cortical myoclonus1ATN1 CL E G H1822101ORPHA12133033607462
HP:0001336HP:0045084Limb myoclonus1ATN1 CL E G H1822101ORPHA12133033607462
HP:0001336HP:0010530Palatal myoclonus1ATN1 CL E G H1822101ORPHA12133033607462
HP:0001336HP:0012462Chin myoclonus1ATN1 CL E G H1822101ORPHA12133033607462
HP:0001336HP:0025097Eyelid myoclonus1ATN1 CL E G H1822101ORPHA12133033607462
HP:0001336HP:0010531Spinal myoclonus1ATN1 CL E G H1822101ORPHA12133033607462
HP:0001336HP:0025357Erratic myoclonus1ATN1 CL E G H1822101ORPHA12133033607462
HP:0001336HP:0003739Myoclonic spasms1ATN1 CL E G H1822101ORPHA12133033607462
HP:0001336HP:0012323Sleep myoclonus1ATN1 CL E G H1822101ORPHA12133033607462
HP:0001336HP:0007000Morning myoclonic jerks1ATN1 CL E G H1822101ORPHA12133033607462
HP:0001336HP:0031986Polyminimyoclonus1ATN1 CL E G H1822101ORPHA12133033607462
HP:0001336HP:0012462Chin myoclonus1ATP13A2 CL E G H23400306674ORPHA197430213610513
HP:0001336HP:0010531Spinal myoclonus1ATP13A2 CL E G H23400314632ORPHA197430213610513
HP:0001336HP:0025097Eyelid myoclonus1ATP13A2 CL E G H23400306674ORPHA197430213610513
HP:0001336HP:0012462Chin myoclonus1ATP13A2 CL E G H23400314632ORPHA197430213610513
HP:0001336HP:0010531Spinal myoclonus1ATP13A2 CL E G H23400306674ORPHA197430213610513
HP:0001336HP:0025097Eyelid myoclonus1ATP13A2 CL E G H23400314632ORPHA197430213610513
HP:0001336HP:0003739Myoclonic spasms1ATP13A2 CL E G H23400314632ORPHA197430213610513
HP:0001336HP:0012323Sleep myoclonus1ATP13A2 CL E G H23400314632ORPHA197430213610513
HP:0001336HP:0025357Erratic myoclonus1ATP13A2 CL E G H23400306674ORPHA197430213610513
HP:0001336HP:0003739Myoclonic spasms1ATP13A2 CL E G H23400306674ORPHA197430213610513
HP:0001336HP:0012323Sleep myoclonus1ATP13A2 CL E G H23400306674ORPHA197430213610513
HP:0001336HP:0025357Erratic myoclonus1ATP13A2 CL E G H23400314632ORPHA197430213610513
HP:0001336HP:0007000Morning myoclonic jerks1ATP13A2 CL E G H23400314632ORPHA197430213610513
HP:0001336HP:0031986Polyminimyoclonus1ATP13A2 CL E G H23400314632ORPHA197430213610513
HP:0001336HP:0007000Morning myoclonic jerks1ATP13A2 CL E G H23400306674ORPHA197430213610513
HP:0001336HP:0031986Polyminimyoclonus1ATP13A2 CL E G H23400306674ORPHA197430213610513
HP:0001336HP:0045084Limb myoclonus1ATP13A2 CL E G H23400314632ORPHA197430213610513
HP:0001336HP:0010530Palatal myoclonus1ATP13A2 CL E G H23400314632ORPHA197430213610513
HP:0001336HP:0040148Cortical myoclonus1ATP13A2 CL E G H23400306674ORPHA197430213610513
HP:0001336HP:0045084Limb myoclonus1ATP13A2 CL E G H23400306674ORPHA197430213610513
HP:0001336HP:0010530Palatal myoclonus1ATP13A2 CL E G H23400306674ORPHA197430213610513
HP:0001336HP:0040148Cortical myoclonus1ATP13A2 CL E G H23400314632ORPHA197430213610513
HP:0001336HP:0010531Spinal myoclonus1ATP13A2 CL E G H23400606693Parkinson disease 9606693C1847640OMIM197430213610513
HP:0001336HP:0012462Chin myoclonus1ATP13A2 CL E G H23400606693Parkinson disease 9606693C1847640OMIM197430213610513
HP:0001336HP:0025097Eyelid myoclonus1ATP13A2 CL E G H23400606693Parkinson disease 9606693C1847640OMIM197430213610513
HP:0001336HP:0012323Sleep myoclonus1ATP13A2 CL E G H23400606693Parkinson disease 9606693C1847640OMIM197430213610513
HP:0001336HP:0025357Erratic myoclonus1ATP13A2 CL E G H23400606693Parkinson disease 9606693C1847640OMIM197430213610513
HP:0001336HP:0003739Myoclonic spasms1ATP13A2 CL E G H23400606693Parkinson disease 9606693C1847640OMIM197430213610513
HP:0001336HP:0031986Polyminimyoclonus1ATP13A2 CL E G H23400606693Parkinson disease 9606693C1847640OMIM197430213610513
HP:0001336HP:0007000Morning myoclonic jerks1ATP13A2 CL E G H23400606693Parkinson disease 9606693C1847640OMIM197430213610513
HP:0001336HP:0010530Palatal myoclonus1ATP13A2 CL E G H23400606693Parkinson disease 9606693C1847640OMIM197430213610513
HP:0001336HP:0040148Cortical myoclonus1ATP13A2 CL E G H23400606693Parkinson disease 9606693C1847640OMIM197430213610513
HP:0001336HP:0045084Limb myoclonus1ATP13A2 CL E G H23400606693Parkinson disease 9606693C1847640OMIM197430213610513
HP:0001336HP:0012462Chin myoclonus1ATXN2 CL E G H6311183090Spinocerebellar ataxia 2183090C0752121OMIM111510555601517
HP:0001336HP:0025097Eyelid myoclonus1ATXN2 CL E G H6311183090Spinocerebellar ataxia 2183090C0752121OMIM111510555601517
HP:0001336HP:0010531Spinal myoclonus1ATXN2 CL E G H6311183090Spinocerebellar ataxia 2183090C0752121OMIM111510555601517
HP:0001336HP:0025357Erratic myoclonus1ATXN2 CL E G H6311183090Spinocerebellar ataxia 2183090C0752121OMIM111510555601517
HP:0001336HP:0003739Myoclonic spasms1ATXN2 CL E G H6311183090Spinocerebellar ataxia 2183090C0752121OMIM111510555601517
HP:0001336HP:0012323Sleep myoclonus1ATXN2 CL E G H6311183090Spinocerebellar ataxia 2183090C0752121OMIM111510555601517
HP:0001336HP:0007000Morning myoclonic jerks1ATXN2 CL E G H6311183090Spinocerebellar ataxia 2183090C0752121OMIM111510555601517
HP:0001336HP:0031986Polyminimyoclonus1ATXN2 CL E G H6311183090Spinocerebellar ataxia 2183090C0752121OMIM111510555601517
HP:0001336HP:0040148Cortical myoclonus1ATXN2 CL E G H6311183090Spinocerebellar ataxia 2183090C0752121OMIM111510555601517
HP:0001336HP:0045084Limb myoclonus1ATXN2 CL E G H6311183090Spinocerebellar ataxia 2183090C0752121OMIM111510555601517
HP:0001336HP:0010530Palatal myoclonus1ATXN2 CL E G H6311183090Spinocerebellar ataxia 2183090C0752121OMIM111510555601517
HP:0001336HP:0012323Sleep myoclonus1BSCL2 CL E G H26580363400ORPHA151015832606158
HP:0001336HP:0007000Morning myoclonic jerks1BSCL2 CL E G H26580363400ORPHA151015832606158
HP:0001336HP:0031986Polyminimyoclonus1BSCL2 CL E G H26580363400ORPHA151015832606158
HP:0001336HP:0040148Cortical myoclonus1BSCL2 CL E G H26580363400ORPHA151015832606158
HP:0001336HP:0045084Limb myoclonus1BSCL2 CL E G H26580363400ORPHA151015832606158
HP:0001336HP:0010530Palatal myoclonus1BSCL2 CL E G H26580363400ORPHA151015832606158
HP:0001336HP:0012462Chin myoclonus1BSCL2 CL E G H26580363400ORPHA151015832606158
HP:0001336HP:0025097Eyelid myoclonus1BSCL2 CL E G H26580363400ORPHA151015832606158
HP:0001336HP:0010531Spinal myoclonus1BSCL2 CL E G H26580363400ORPHA151015832606158
HP:0001336HP:0025357Erratic myoclonus1BSCL2 CL E G H26580363400ORPHA151015832606158
HP:0001336HP:0003739Myoclonic spasms1BSCL2 CL E G H26580363400ORPHA151015832606158
HP:0001336HP:0007000Morning myoclonic jerks1BSCL2 CL E G H26580615924Encephalopathy, progressive, with or without lipodystrophy615924C4014700OMIM151015832606158
HP:0001336HP:0031986Polyminimyoclonus1BSCL2 CL E G H26580615924Encephalopathy, progressive, with or without lipodystrophy615924C4014700OMIM151015832606158
HP:0001336HP:0040148Cortical myoclonus1BSCL2 CL E G H26580615924Encephalopathy, progressive, with or without lipodystrophy615924C4014700OMIM151015832606158
HP:0001336HP:0045084Limb myoclonus1BSCL2 CL E G H26580615924Encephalopathy, progressive, with or without lipodystrophy615924C4014700OMIM151015832606158
HP:0001336HP:0010530Palatal myoclonus1BSCL2 CL E G H26580615924Encephalopathy, progressive, with or without lipodystrophy615924C4014700OMIM151015832606158
HP:0001336HP:0012462Chin myoclonus1BSCL2 CL E G H26580615924Encephalopathy, progressive, with or without lipodystrophy615924C4014700OMIM151015832606158
HP:0001336HP:0025097Eyelid myoclonus1BSCL2 CL E G H26580615924Encephalopathy, progressive, with or without lipodystrophy615924C4014700OMIM151015832606158
HP:0001336HP:0010531Spinal myoclonus1BSCL2 CL E G H26580615924Encephalopathy, progressive, with or without lipodystrophy615924C4014700OMIM151015832606158
HP:0001336HP:0025357Erratic myoclonus1BSCL2 CL E G H26580615924Encephalopathy, progressive, with or without lipodystrophy615924C4014700OMIM151015832606158
HP:0001336HP:0003739Myoclonic spasms1BSCL2 CL E G H26580615924Encephalopathy, progressive, with or without lipodystrophy615924C4014700OMIM151015832606158
HP:0001336HP:0012323Sleep myoclonus1BSCL2 CL E G H26580615924Encephalopathy, progressive, with or without lipodystrophy615924C4014700OMIM151015832606158
HP:0001336HP:0007000Morning myoclonic jerks1CACNA1B CL E G H774614860Dystonia 23614860C3538999OMIM112881389601012
HP:0001336HP:0031986Polyminimyoclonus1CACNA1B CL E G H774614860Dystonia 23614860C3538999OMIM112881389601012
HP:0001336HP:0040148Cortical myoclonus1CACNA1B CL E G H774614860Dystonia 23614860C3538999OMIM112881389601012
HP:0001336HP:0045084Limb myoclonus1CACNA1B CL E G H774614860Dystonia 23614860C3538999OMIM112881389601012
HP:0001336HP:0010530Palatal myoclonus1CACNA1B CL E G H774614860Dystonia 23614860C3538999OMIM112881389601012
HP:0001336HP:0012462Chin myoclonus1CACNA1B CL E G H774614860Dystonia 23614860C3538999OMIM112881389601012
HP:0001336HP:0025097Eyelid myoclonus1CACNA1B CL E G H774614860Dystonia 23614860C3538999OMIM112881389601012
HP:0001336HP:0010531Spinal myoclonus1CACNA1B CL E G H774614860Dystonia 23614860C3538999OMIM112881389601012
HP:0001336HP:0025357Erratic myoclonus1CACNA1B CL E G H774614860Dystonia 23614860C3538999OMIM112881389601012
HP:0001336HP:0003739Myoclonic spasms1CACNA1B CL E G H774614860Dystonia 23614860C3538999OMIM112881389601012
HP:0001336HP:0012323Sleep myoclonus1CACNA1B CL E G H774614860Dystonia 23614860C3538999OMIM112881389601012
HP:0001336HP:0045084Limb myoclonus1CACNA1E CL E G H777618285618285618285OMIM115831392601013
HP:0001336HP:0010530Palatal myoclonus1CACNA1E CL E G H777618285618285618285OMIM115831392601013
HP:0001336HP:0040148Cortical myoclonus1CACNA1E CL E G H777618285618285618285OMIM115831392601013
HP:0001336HP:0025097Eyelid myoclonus1CACNA1E CL E G H777618285618285618285OMIM115831392601013
HP:0001336HP:0010531Spinal myoclonus1CACNA1E CL E G H777618285618285618285OMIM115831392601013
HP:0001336HP:0012462Chin myoclonus1CACNA1E CL E G H777618285618285618285OMIM115831392601013
HP:0001336HP:0025357Erratic myoclonus1CACNA1E CL E G H777618285618285618285OMIM115831392601013
HP:0001336HP:0003739Myoclonic spasms1CACNA1E CL E G H777618285618285618285OMIM115831392601013
HP:0001336HP:0012323Sleep myoclonus1CACNA1E CL E G H777618285618285618285OMIM115831392601013
HP:0001336HP:0007000Morning myoclonic jerks1CACNA1E CL E G H777618285618285618285OMIM115831392601013
HP:0001336HP:0031986Polyminimyoclonus1CACNA1E CL E G H777618285618285618285OMIM115831392601013
HP:0001336HP:0025097Eyelid myoclonus1CARS2 CL E G H79587616672Combined oxidative phosphorylation deficiency 27616672C4225251OMIM182525695612800
HP:0001336HP:0010531Spinal myoclonus1CARS2 CL E G H79587616672Combined oxidative phosphorylation deficiency 27616672C4225251OMIM182525695612800
HP:0001336HP:0012462Chin myoclonus1CARS2 CL E G H79587616672Combined oxidative phosphorylation deficiency 27616672C4225251OMIM182525695612800
HP:0001336HP:0003739Myoclonic spasms1CARS2 CL E G H79587616672Combined oxidative phosphorylation deficiency 27616672C4225251OMIM182525695612800
HP:0001336HP:0012323Sleep myoclonus1CARS2 CL E G H79587616672Combined oxidative phosphorylation deficiency 27616672C4225251OMIM182525695612800
HP:0001336HP:0025357Erratic myoclonus1CARS2 CL E G H79587616672Combined oxidative phosphorylation deficiency 27616672C4225251OMIM182525695612800
HP:0001336HP:0007000Morning myoclonic jerks1CARS2 CL E G H79587616672Combined oxidative phosphorylation deficiency 27616672C4225251OMIM182525695612800
HP:0001336HP:0031986Polyminimyoclonus1CARS2 CL E G H79587616672Combined oxidative phosphorylation deficiency 27616672C4225251OMIM182525695612800
HP:0001336HP:0045084Limb myoclonus1CARS2 CL E G H79587616672Combined oxidative phosphorylation deficiency 27616672C4225251OMIM182525695612800
HP:0001336HP:0010530Palatal myoclonus1CARS2 CL E G H79587616672Combined oxidative phosphorylation deficiency 27616672C4225251OMIM182525695612800
HP:0001336HP:0040148Cortical myoclonus1CARS2 CL E G H79587616672Combined oxidative phosphorylation deficiency 27616672C4225251OMIM182525695612800
HP:0001336HP:0045084Limb myoclonus1CCDC88A CL E G H55704617507PEHO-like syndrome617507C1850056OMIM183825523609736
HP:0001336HP:0010530Palatal myoclonus1CCDC88A CL E G H55704617507PEHO-like syndrome617507C1850056OMIM183825523609736
HP:0001336HP:0040148Cortical myoclonus1CCDC88A CL E G H55704617507PEHO-like syndrome617507C1850056OMIM183825523609736
HP:0001336HP:0025097Eyelid myoclonus1CCDC88A CL E G H55704617507PEHO-like syndrome617507C1850056OMIM183825523609736
HP:0001336HP:0010531Spinal myoclonus1CCDC88A CL E G H55704617507PEHO-like syndrome617507C1850056OMIM183825523609736
HP:0001336HP:0012462Chin myoclonus1CCDC88A CL E G H55704617507PEHO-like syndrome617507C1850056OMIM183825523609736
HP:0001336HP:0003739Myoclonic spasms1CCDC88A CL E G H55704617507PEHO-like syndrome617507C1850056OMIM183825523609736
HP:0001336HP:0012323Sleep myoclonus1CCDC88A CL E G H55704617507PEHO-like syndrome617507C1850056OMIM183825523609736
HP:0001336HP:0025357Erratic myoclonus1CCDC88A CL E G H55704617507PEHO-like syndrome617507C1850056OMIM183825523609736
HP:0001336HP:0007000Morning myoclonic jerks1CCDC88A CL E G H55704617507PEHO-like syndrome617507C1850056OMIM183825523609736
HP:0001336HP:0031986Polyminimyoclonus1CCDC88A CL E G H55704617507PEHO-like syndrome617507C1850056OMIM183825523609736
HP:0001336HP:0025097Eyelid myoclonus1CDKL5 CL E G H6792300672Early infantile epileptic encephalopathy 2300672C1839333OMIM1173811411300203
HP:0001336HP:0010531Spinal myoclonus1CDKL5 CL E G H6792300672Early infantile epileptic encephalopathy 2300672C1839333OMIM1173811411300203
HP:0001336HP:0012462Chin myoclonus1CDKL5 CL E G H6792300672Early infantile epileptic encephalopathy 2300672C1839333OMIM1173811411300203
HP:0001336HP:0025357Erratic myoclonus1CDKL5 CL E G H6792300672Early infantile epileptic encephalopathy 2300672C1839333OMIM1173811411300203
HP:0001336HP:0003739Myoclonic spasms1CDKL5 CL E G H6792300672Early infantile epileptic encephalopathy 2300672C1839333OMIM1173811411300203
HP:0001336HP:0012323Sleep myoclonus1CDKL5 CL E G H6792300672Early infantile epileptic encephalopathy 2300672C1839333OMIM1173811411300203
HP:0001336HP:0007000Morning myoclonic jerks1CDKL5 CL E G H6792300672Early infantile epileptic encephalopathy 2300672C1839333OMIM1173811411300203
HP:0001336HP:0031986Polyminimyoclonus1CDKL5 CL E G H6792300672Early infantile epileptic encephalopathy 2300672C1839333OMIM1173811411300203
HP:0001336HP:0040148Cortical myoclonus1CDKL5 CL E G H6792300672Early infantile epileptic encephalopathy 2300672C1839333OMIM1173811411300203
HP:0001336HP:0045084Limb myoclonus1CDKL5 CL E G H6792300672Early infantile epileptic encephalopathy 2300672C1839333OMIM1173811411300203
HP:0001336HP:0010530Palatal myoclonus1CDKL5 CL E G H6792300672Early infantile epileptic encephalopathy 2300672C1839333OMIM1173811411300203
HP:0001336HP:0012462Chin myoclonus1CDKL5 CL E G H67923451Meier Blumberg Imahorn syndromeORPHA1173811411300203
HP:0001336HP:0025097Eyelid myoclonus1CDKL5 CL E G H67923451Meier Blumberg Imahorn syndromeORPHA1173811411300203
HP:0001336HP:0010531Spinal myoclonus1CDKL5 CL E G H67923451Meier Blumberg Imahorn syndromeORPHA1173811411300203
HP:0001336HP:0025357Erratic myoclonus1CDKL5 CL E G H67923451Meier Blumberg Imahorn syndromeORPHA1173811411300203
HP:0001336HP:0003739Myoclonic spasms1CDKL5 CL E G H67923451Meier Blumberg Imahorn syndromeORPHA1173811411300203
HP:0001336HP:0012323Sleep myoclonus1CDKL5 CL E G H67923451Meier Blumberg Imahorn syndromeORPHA1173811411300203
HP:0001336HP:0007000Morning myoclonic jerks1CDKL5 CL E G H67923451Meier Blumberg Imahorn syndromeORPHA1173811411300203
HP:0001336HP:0031986Polyminimyoclonus1CDKL5 CL E G H67923451Meier Blumberg Imahorn syndromeORPHA1173811411300203
HP:0001336HP:0040148Cortical myoclonus1CDKL5 CL E G H67923451Meier Blumberg Imahorn syndromeORPHA1173811411300203
HP:0001336HP:0045084Limb myoclonus1CDKL5 CL E G H67923451Meier Blumberg Imahorn syndromeORPHA1173811411300203
HP:0001336HP:0010530Palatal myoclonus1CDKL5 CL E G H67923451Meier Blumberg Imahorn syndromeORPHA1173811411300203
HP:0001336HP:0012462Chin myoclonus1CERS1 CL E G H10715616230Epilepsy, progressive myoclonic 8616230C4015619OMIM141114253606919
HP:0001336HP:0025097Eyelid myoclonus1CERS1 CL E G H10715616230Epilepsy, progressive myoclonic 8616230C4015619OMIM141114253606919
HP:0001336HP:0010531Spinal myoclonus1CERS1 CL E G H10715616230Epilepsy, progressive myoclonic 8616230C4015619OMIM141114253606919
HP:0001336HP:0025357Erratic myoclonus1CERS1 CL E G H10715616230Epilepsy, progressive myoclonic 8616230C4015619OMIM141114253606919
HP:0001336HP:0003739Myoclonic spasms1CERS1 CL E G H10715616230Epilepsy, progressive myoclonic 8616230C4015619OMIM141114253606919
HP:0001336HP:0012323Sleep myoclonus1CERS1 CL E G H10715616230Epilepsy, progressive myoclonic 8616230C4015619OMIM141114253606919
HP:0001336HP:0007000Morning myoclonic jerks1CERS1 CL E G H10715616230Epilepsy, progressive myoclonic 8616230C4015619OMIM141114253606919
HP:0001336HP:0031986Polyminimyoclonus1CERS1 CL E G H10715616230Epilepsy, progressive myoclonic 8616230C4015619OMIM141114253606919
HP:0001336HP:0040148Cortical myoclonus1CERS1 CL E G H10715616230Epilepsy, progressive myoclonic 8616230C4015619OMIM141114253606919
HP:0001336HP:0045084Limb myoclonus1CERS1 CL E G H10715616230Epilepsy, progressive myoclonic 8616230C4015619OMIM141114253606919
HP:0001336HP:0010530Palatal myoclonus1CERS1 CL E G H10715616230Epilepsy, progressive myoclonic 8616230C4015619OMIM141114253606919
HP:0001336HP:0007000Morning myoclonic jerks1CHD2 CL E G H11062382ORPHA118381917602119
HP:0001336HP:0031986Polyminimyoclonus1CHD2 CL E G H11062382ORPHA118381917602119
HP:0001336HP:0040148Cortical myoclonus1CHD2 CL E G H11062382ORPHA118381917602119
HP:0001336HP:0045084Limb myoclonus1CHD2 CL E G H11062382ORPHA118381917602119
HP:0001336HP:0010530Palatal myoclonus1CHD2 CL E G H11062382ORPHA118381917602119
HP:0001336HP:0010531Spinal myoclonus1CHD2 CL E G H11062382ORPHA118381917602119
HP:0001336HP:0012462Chin myoclonus1CHD2 CL E G H11062382ORPHA118381917602119
HP:0001336HP:0025097Eyelid myoclonus1CHD2 CL E G H11062382ORPHA118381917602119
HP:0001336HP:0025357Erratic myoclonus1CHD2 CL E G H11062382ORPHA118381917602119
HP:0001336HP:0003739Myoclonic spasms1CHD2 CL E G H11062382ORPHA118381917602119
HP:0001336HP:0012323Sleep myoclonus1CHD2 CL E G H11062382ORPHA118381917602119
HP:0001336HP:0007000Morning myoclonic jerks1CHMP2B CL E G H25978600795Frontotemporal Dementia, Chromosome 3-Linked600795C1833296OMIM116024537609512
HP:0001336HP:0031986Polyminimyoclonus1CHMP2B CL E G H25978600795Frontotemporal Dementia, Chromosome 3-Linked600795C1833296OMIM116024537609512
HP:0001336HP:0040148Cortical myoclonus1CHMP2B CL E G H25978600795Frontotemporal Dementia, Chromosome 3-Linked600795C1833296OMIM116024537609512
HP:0001336HP:0045084Limb myoclonus1CHMP2B CL E G H25978600795Frontotemporal Dementia, Chromosome 3-Linked600795C1833296OMIM116024537609512
HP:0001336HP:0010530Palatal myoclonus1CHMP2B CL E G H25978600795Frontotemporal Dementia, Chromosome 3-Linked600795C1833296OMIM116024537609512
HP:0001336HP:0012462Chin myoclonus1CHMP2B CL E G H25978600795Frontotemporal Dementia, Chromosome 3-Linked600795C1833296OMIM116024537609512
HP:0001336HP:0025097Eyelid myoclonus1CHMP2B CL E G H25978600795Frontotemporal Dementia, Chromosome 3-Linked600795C1833296OMIM116024537609512
HP:0001336HP:0010531Spinal myoclonus1CHMP2B CL E G H25978600795Frontotemporal Dementia, Chromosome 3-Linked600795C1833296OMIM116024537609512
HP:0001336HP:0025357Erratic myoclonus1CHMP2B CL E G H25978600795Frontotemporal Dementia, Chromosome 3-Linked600795C1833296OMIM116024537609512
HP:0001336HP:0003739Myoclonic spasms1CHMP2B CL E G H25978600795Frontotemporal Dementia, Chromosome 3-Linked600795C1833296OMIM116024537609512
HP:0001336HP:0012323Sleep myoclonus1CHMP2B CL E G H25978600795Frontotemporal Dementia, Chromosome 3-Linked600795C1833296OMIM116024537609512
HP:0001336HP:0025357Erratic myoclonus1CIZ1 CL E G H25792420492ORPHA135216744611420
HP:0001336HP:0003739Myoclonic spasms1CIZ1 CL E G H25792420492ORPHA135216744611420
HP:0001336HP:0012323Sleep myoclonus1CIZ1 CL E G H25792420492ORPHA135216744611420
HP:0001336HP:0007000Morning myoclonic jerks1CIZ1 CL E G H25792420492ORPHA135216744611420
HP:0001336HP:0031986Polyminimyoclonus1CIZ1 CL E G H25792420492ORPHA135216744611420
HP:0001336HP:0040148Cortical myoclonus1CIZ1 CL E G H25792420492ORPHA135216744611420
HP:0001336HP:0045084Limb myoclonus1CIZ1 CL E G H25792420492ORPHA135216744611420
HP:0001336HP:0010530Palatal myoclonus1CIZ1 CL E G H25792420492ORPHA135216744611420
HP:0001336HP:0012462Chin myoclonus1CIZ1 CL E G H25792420492ORPHA135216744611420
HP:0001336HP:0025097Eyelid myoclonus1CIZ1 CL E G H25792420492ORPHA135216744611420
HP:0001336HP:0010531Spinal myoclonus1CIZ1 CL E G H25792420492ORPHA135216744611420
HP:0001336HP:0010531Spinal myoclonus1CLN3 CL E G H1201204200Juvenile neuronal ceroid lipofuscinosis204200C0751383OMIM110152074607042
HP:0001336HP:0012462Chin myoclonus1CLN3 CL E G H1201204200Juvenile neuronal ceroid lipofuscinosis204200C0751383OMIM110152074607042
HP:0001336HP:0025097Eyelid myoclonus1CLN3 CL E G H1201204200Juvenile neuronal ceroid lipofuscinosis204200C0751383OMIM110152074607042
HP:0001336HP:0003739Myoclonic spasms1CLN3 CL E G H1201204200Juvenile neuronal ceroid lipofuscinosis204200C0751383OMIM110152074607042
HP:0001336HP:0012323Sleep myoclonus1CLN3 CL E G H1201204200Juvenile neuronal ceroid lipofuscinosis204200C0751383OMIM110152074607042
HP:0001336HP:0025357Erratic myoclonus1CLN3 CL E G H1201204200Juvenile neuronal ceroid lipofuscinosis204200C0751383OMIM110152074607042
HP:0001336HP:0007000Morning myoclonic jerks1CLN3 CL E G H1201204200Juvenile neuronal ceroid lipofuscinosis204200C0751383OMIM110152074607042
HP:0001336HP:0031986Polyminimyoclonus1CLN3 CL E G H1201204200Juvenile neuronal ceroid lipofuscinosis204200C0751383OMIM110152074607042
HP:0001336HP:0010530Palatal myoclonus1CLN3 CL E G H1201204200Juvenile neuronal ceroid lipofuscinosis204200C0751383OMIM110152074607042
HP:0001336HP:0040148Cortical myoclonus1CLN3 CL E G H1201204200Juvenile neuronal ceroid lipofuscinosis204200C0751383OMIM110152074607042
HP:0001336HP:0045084Limb myoclonus1CLN3 CL E G H1201204200Juvenile neuronal ceroid lipofuscinosis204200C0751383OMIM110152074607042
HP:0001336HP:0031986Polyminimyoclonus1CLN5 CL E G H1203256731Ceroid lipofuscinosis neuronal 5256731C1850442OMIM17022076608102
HP:0001336HP:0007000Morning myoclonic jerks1CLN5 CL E G H1203256731Ceroid lipofuscinosis neuronal 5256731C1850442OMIM17022076608102
HP:0001336HP:0040148Cortical myoclonus1CLN5 CL E G H1203256731Ceroid lipofuscinosis neuronal 5256731C1850442OMIM17022076608102
HP:0001336HP:0045084Limb myoclonus1CLN5 CL E G H1203256731Ceroid lipofuscinosis neuronal 5256731C1850442OMIM17022076608102
HP:0001336HP:0010530Palatal myoclonus1CLN5 CL E G H1203256731Ceroid lipofuscinosis neuronal 5256731C1850442OMIM17022076608102
HP:0001336HP:0010531Spinal myoclonus1CLN5 CL E G H1203256731Ceroid lipofuscinosis neuronal 5256731C1850442OMIM17022076608102
HP:0001336HP:0012462Chin myoclonus1CLN5 CL E G H1203256731Ceroid lipofuscinosis neuronal 5256731C1850442OMIM17022076608102
HP:0001336HP:0025097Eyelid myoclonus1CLN5 CL E G H1203256731Ceroid lipofuscinosis neuronal 5256731C1850442OMIM17022076608102
HP:0001336HP:0012323Sleep myoclonus1CLN5 CL E G H1203256731Ceroid lipofuscinosis neuronal 5256731C1850442OMIM17022076608102
HP:0001336HP:0025357Erratic myoclonus1CLN5 CL E G H1203256731Ceroid lipofuscinosis neuronal 5256731C1850442OMIM17022076608102
HP:0001336HP:0003739Myoclonic spasms1CLN5 CL E G H1203256731Ceroid lipofuscinosis neuronal 5256731C1850442OMIM17022076608102
HP:0001336HP:0007000Morning myoclonic jerks1CLN6 CL E G H54982204300Adult neuronal ceroid lipofuscinosis204300C0022797OMIM16612077606725
HP:0001336HP:0031986Polyminimyoclonus1CLN6 CL E G H54982204300Adult neuronal ceroid lipofuscinosis204300C0022797OMIM16612077606725
HP:0001336HP:0040148Cortical myoclonus1CLN6 CL E G H54982204300Adult neuronal ceroid lipofuscinosis204300C0022797OMIM16612077606725
HP:0001336HP:0045084Limb myoclonus1CLN6 CL E G H54982204300Adult neuronal ceroid lipofuscinosis204300C0022797OMIM16612077606725
HP:0001336HP:0010530Palatal myoclonus1CLN6 CL E G H54982204300Adult neuronal ceroid lipofuscinosis204300C0022797OMIM16612077606725
HP:0001336HP:0010531Spinal myoclonus1CLN6 CL E G H54982204300Adult neuronal ceroid lipofuscinosis204300C0022797OMIM16612077606725
HP:0001336HP:0012462Chin myoclonus1CLN6 CL E G H54982204300Adult neuronal ceroid lipofuscinosis204300C0022797OMIM16612077606725
HP:0001336HP:0025097Eyelid myoclonus1CLN6 CL E G H54982204300Adult neuronal ceroid lipofuscinosis204300C0022797OMIM16612077606725
HP:0001336HP:0012323Sleep myoclonus1CLN6 CL E G H54982204300Adult neuronal ceroid lipofuscinosis204300C0022797OMIM16612077606725
HP:0001336HP:0025357Erratic myoclonus1CLN6 CL E G H54982204300Adult neuronal ceroid lipofuscinosis204300C0022797OMIM16612077606725
HP:0001336HP:0003739Myoclonic spasms1CLN6 CL E G H54982204300Adult neuronal ceroid lipofuscinosis204300C0022797OMIM16612077606725
HP:0001336HP:0010531Spinal myoclonus1CLN8 CL E G H2055600143Ceroid lipofuscinosis neuronal 8600143C1838570OMIM16402079607837
HP:0001336HP:0012462Chin myoclonus1CLN8 CL E G H2055600143Ceroid lipofuscinosis neuronal 8600143C1838570OMIM16402079607837
HP:0001336HP:0025097Eyelid myoclonus1CLN8 CL E G H2055600143Ceroid lipofuscinosis neuronal 8600143C1838570OMIM16402079607837
HP:0001336HP:0012323Sleep myoclonus1CLN8 CL E G H2055600143Ceroid lipofuscinosis neuronal 8600143C1838570OMIM16402079607837
HP:0001336HP:0025357Erratic myoclonus1CLN8 CL E G H2055600143Ceroid lipofuscinosis neuronal 8600143C1838570OMIM16402079607837
HP:0001336HP:0003739Myoclonic spasms1CLN8 CL E G H2055600143Ceroid lipofuscinosis neuronal 8600143C1838570OMIM16402079607837
HP:0001336HP:0031986Polyminimyoclonus1CLN8 CL E G H2055600143Ceroid lipofuscinosis neuronal 8600143C1838570OMIM16402079607837
HP:0001336HP:0007000Morning myoclonic jerks1CLN8 CL E G H2055600143Ceroid lipofuscinosis neuronal 8600143C1838570OMIM16402079607837
HP:0001336HP:0040148Cortical myoclonus1CLN8 CL E G H2055600143Ceroid lipofuscinosis neuronal 8600143C1838570OMIM16402079607837
HP:0001336HP:0045084Limb myoclonus1CLN8 CL E G H2055600143Ceroid lipofuscinosis neuronal 8600143C1838570OMIM16402079607837
HP:0001336HP:0010530Palatal myoclonus1CLN8 CL E G H2055600143Ceroid lipofuscinosis neuronal 8600143C1838570OMIM16402079607837
HP:0001336HP:0007000Morning myoclonic jerks1CNPY3 CL E G H106953451Meier Blumberg Imahorn syndromeORPHA14411968610774
HP:0001336HP:0031986Polyminimyoclonus1CNPY3 CL E G H106953451Meier Blumberg Imahorn syndromeORPHA14411968610774
HP:0001336HP:0045084Limb myoclonus1CNPY3 CL E G H106953451Meier Blumberg Imahorn syndromeORPHA14411968610774
HP:0001336HP:0010530Palatal myoclonus1CNPY3 CL E G H106953451Meier Blumberg Imahorn syndromeORPHA14411968610774
HP:0001336HP:0040148Cortical myoclonus1CNPY3 CL E G H106953451Meier Blumberg Imahorn syndromeORPHA14411968610774
HP:0001336HP:0025097Eyelid myoclonus1CNPY3 CL E G H106953451Meier Blumberg Imahorn syndromeORPHA14411968610774
HP:0001336HP:0010531Spinal myoclonus1CNPY3 CL E G H106953451Meier Blumberg Imahorn syndromeORPHA14411968610774
HP:0001336HP:0012462Chin myoclonus1CNPY3 CL E G H106953451Meier Blumberg Imahorn syndromeORPHA14411968610774
HP:0001336HP:0025357Erratic myoclonus1CNPY3 CL E G H106953451Meier Blumberg Imahorn syndromeORPHA14411968610774
HP:0001336HP:0003739Myoclonic spasms1CNPY3 CL E G H106953451Meier Blumberg Imahorn syndromeORPHA14411968610774
HP:0001336HP:0012323Sleep myoclonus1CNPY3 CL E G H106953451Meier Blumberg Imahorn syndromeORPHA14411968610774
HP:0001336HP:0010531Spinal myoclonus1CNTN2 CL E G H690086814ORPHA16762172190197
HP:0001336HP:0012462Chin myoclonus1CNTN2 CL E G H690086814ORPHA16762172190197
HP:0001336HP:0025097Eyelid myoclonus1CNTN2 CL E G H690086814ORPHA16762172190197
HP:0001336HP:0003739Myoclonic spasms1CNTN2 CL E G H690086814ORPHA16762172190197
HP:0001336HP:0012323Sleep myoclonus1CNTN2 CL E G H690086814ORPHA16762172190197
HP:0001336HP:0025357Erratic myoclonus1CNTN2 CL E G H690086814ORPHA16762172190197
HP:0001336HP:0007000Morning myoclonic jerks1CNTN2 CL E G H690086814ORPHA16762172190197
HP:0001336HP:0031986Polyminimyoclonus1CNTN2 CL E G H690086814ORPHA16762172190197
HP:0001336HP:0010530Palatal myoclonus1CNTN2 CL E G H690086814ORPHA16762172190197
HP:0001336HP:0040148Cortical myoclonus1CNTN2 CL E G H690086814ORPHA16762172190197
HP:0001336HP:0045084Limb myoclonus1CNTN2 CL E G H690086814ORPHA16762172190197
HP:0001336HP:0025097Eyelid myoclonus1CPLX1 CL E G H10815352582ORPHA12062309605032
HP:0001336HP:0010531Spinal myoclonus1CPLX1 CL E G H10815352582ORPHA12062309605032
HP:0001336HP:0012462Chin myoclonus1CPLX1 CL E G H10815352582ORPHA12062309605032
HP:0001336HP:0003739Myoclonic spasms1CPLX1 CL E G H10815352582ORPHA12062309605032
HP:0001336HP:0012323Sleep myoclonus1CPLX1 CL E G H10815352582ORPHA12062309605032
HP:0001336HP:0025357Erratic myoclonus1CPLX1 CL E G H10815352582ORPHA12062309605032
HP:0001336HP:0007000Morning myoclonic jerks1CPLX1 CL E G H10815352582ORPHA12062309605032
HP:0001336HP:0031986Polyminimyoclonus1CPLX1 CL E G H10815352582ORPHA12062309605032
HP:0001336HP:0045084Limb myoclonus1CPLX1 CL E G H10815352582ORPHA12062309605032
HP:0001336HP:0010530Palatal myoclonus1CPLX1 CL E G H10815352582ORPHA12062309605032
HP:0001336HP:0040148Cortical myoclonus1CPLX1 CL E G H10815352582ORPHA12062309605032
HP:0001336HP:0010531Spinal myoclonus1CSTB CL E G H1476254800Unverricht-Lundborg syndrome254800C0751785OMIM12612482601145
HP:0001336HP:0012462Chin myoclonus1CSTB CL E G H1476254800Unverricht-Lundborg syndrome254800C0751785OMIM12612482601145
HP:0001336HP:0025097Eyelid myoclonus1CSTB CL E G H1476254800Unverricht-Lundborg syndrome254800C0751785OMIM12612482601145
HP:0001336HP:0003739Myoclonic spasms1CSTB CL E G H1476254800Unverricht-Lundborg syndrome254800C0751785OMIM12612482601145
HP:0001336HP:0012323Sleep myoclonus1CSTB CL E G H1476254800Unverricht-Lundborg syndrome254800C0751785OMIM12612482601145
HP:0001336HP:0025357Erratic myoclonus1CSTB CL E G H1476254800Unverricht-Lundborg syndrome254800C0751785OMIM12612482601145
HP:0001336HP:0007000Morning myoclonic jerks1CSTB CL E G H1476254800Unverricht-Lundborg syndrome254800C0751785OMIM12612482601145
HP:0001336HP:0031986Polyminimyoclonus1CSTB CL E G H1476254800Unverricht-Lundborg syndrome254800C0751785OMIM12612482601145
HP:0001336HP:0045084Limb myoclonus1CSTB CL E G H1476254800Unverricht-Lundborg syndrome254800C0751785OMIM12612482601145
HP:0001336HP:0010530Palatal myoclonus1CSTB CL E G H1476254800Unverricht-Lundborg syndrome254800C0751785OMIM12612482601145
HP:0001336HP:0040148Cortical myoclonus1CSTB CL E G H1476254800Unverricht-Lundborg syndrome254800C0751785OMIM12612482601145
HP:0001336HP:0031986Polyminimyoclonus1CTNND2 CL E G H150186814ORPHA13512516604275
HP:0001336HP:0007000Morning myoclonic jerks1CTNND2 CL E G H150186814ORPHA13512516604275
HP:0001336HP:0040148Cortical myoclonus1CTNND2 CL E G H150186814ORPHA13512516604275
HP:0001336HP:0045084Limb myoclonus1CTNND2 CL E G H150186814ORPHA13512516604275
HP:0001336HP:0010530Palatal myoclonus1CTNND2 CL E G H150186814ORPHA13512516604275
HP:0001336HP:0010531Spinal myoclonus1CTNND2 CL E G H150186814ORPHA13512516604275
HP:0001336HP:0012462Chin myoclonus1CTNND2 CL E G H150186814ORPHA13512516604275
HP:0001336HP:0025097Eyelid myoclonus1CTNND2 CL E G H150186814ORPHA13512516604275
HP:0001336HP:0012323Sleep myoclonus1CTNND2 CL E G H150186814ORPHA13512516604275
HP:0001336HP:0025357Erratic myoclonus1CTNND2 CL E G H150186814ORPHA13512516604275
HP:0001336HP:0003739Myoclonic spasms1CTNND2 CL E G H150186814ORPHA13512516604275
HP:0001336HP:0012462Chin myoclonus1CTSF CL E G H8722615362Ceroid lipofuscinosis, neuronal, 13615362C3715049OMIM12182531603539
HP:0001336HP:0025097Eyelid myoclonus1CTSF CL E G H8722615362Ceroid lipofuscinosis, neuronal, 13615362C3715049OMIM12182531603539
HP:0001336HP:0010531Spinal myoclonus1CTSF CL E G H8722615362Ceroid lipofuscinosis, neuronal, 13615362C3715049OMIM12182531603539
HP:0001336HP:0025357Erratic myoclonus1CTSF CL E G H8722615362Ceroid lipofuscinosis, neuronal, 13615362C3715049OMIM12182531603539
HP:0001336HP:0003739Myoclonic spasms1CTSF CL E G H8722615362Ceroid lipofuscinosis, neuronal, 13615362C3715049OMIM12182531603539
HP:0001336HP:0012323Sleep myoclonus1CTSF CL E G H8722615362Ceroid lipofuscinosis, neuronal, 13615362C3715049OMIM12182531603539
HP:0001336HP:0007000Morning myoclonic jerks1CTSF CL E G H8722615362Ceroid lipofuscinosis, neuronal, 13615362C3715049OMIM12182531603539
HP:0001336HP:0031986Polyminimyoclonus1CTSF CL E G H8722615362Ceroid lipofuscinosis, neuronal, 13615362C3715049OMIM12182531603539
HP:0001336HP:0040148Cortical myoclonus1CTSF CL E G H8722615362Ceroid lipofuscinosis, neuronal, 13615362C3715049OMIM12182531603539
HP:0001336HP:0045084Limb myoclonus1CTSF CL E G H8722615362Ceroid lipofuscinosis, neuronal, 13615362C3715049OMIM12182531603539
HP:0001336HP:0010530Palatal myoclonus1CTSF CL E G H8722615362Ceroid lipofuscinosis, neuronal, 13615362C3715049OMIM12182531603539
HP:0001336HP:0012462Chin myoclonus1CUX2 CL E G H233162382ORPHA122719347610648
HP:0001336HP:0025097Eyelid myoclonus1CUX2 CL E G H233162382ORPHA122719347610648
HP:0001336HP:0010531Spinal myoclonus1CUX2 CL E G H233162382ORPHA122719347610648
HP:0001336HP:0025357Erratic myoclonus1CUX2 CL E G H233162382ORPHA122719347610648
HP:0001336HP:0003739Myoclonic spasms1CUX2 CL E G H233162382ORPHA122719347610648
HP:0001336HP:0012323Sleep myoclonus1CUX2 CL E G H233162382ORPHA122719347610648
HP:0001336HP:0007000Morning myoclonic jerks1CUX2 CL E G H233162382ORPHA122719347610648
HP:0001336HP:0031986Polyminimyoclonus1CUX2 CL E G H233162382ORPHA122719347610648
HP:0001336HP:0040148Cortical myoclonus1CUX2 CL E G H233162382ORPHA122719347610648
HP:0001336HP:0045084Limb myoclonus1CUX2 CL E G H233162382ORPHA122719347610648
HP:0001336HP:0010530Palatal myoclonus1CUX2 CL E G H233162382ORPHA122719347610648
HP:0001336HP:0040148Cortical myoclonus1CYP27A1 CL E G H1593909ORPHA19402605606530
HP:0001336HP:0045084Limb myoclonus1CYP27A1 CL E G H1593909ORPHA19402605606530
HP:0001336HP:0010530Palatal myoclonus1CYP27A1 CL E G H1593909ORPHA19402605606530
HP:0001336HP:0010531Spinal myoclonus1CYP27A1 CL E G H1593909ORPHA19402605606530
HP:0001336HP:0012462Chin myoclonus1CYP27A1 CL E G H1593909ORPHA19402605606530
HP:0001336HP:0025097Eyelid myoclonus1CYP27A1 CL E G H1593909ORPHA19402605606530
HP:0001336HP:0025357Erratic myoclonus1CYP27A1 CL E G H1593909ORPHA19402605606530
HP:0001336HP:0003739Myoclonic spasms1CYP27A1 CL E G H1593909ORPHA19402605606530
HP:0001336HP:0012323Sleep myoclonus1CYP27A1 CL E G H1593909ORPHA19402605606530
HP:0001336HP:0007000Morning myoclonic jerks1CYP27A1 CL E G H1593909ORPHA19402605606530
HP:0001336HP:0031986Polyminimyoclonus1CYP27A1 CL E G H1593909ORPHA19402605606530
HP:0001336HP:0045084Limb myoclonus1DAB1 CL E G H1600363710ORPHA11072661603448
HP:0001336HP:0010530Palatal myoclonus1DAB1 CL E G H1600363710ORPHA11072661603448
HP:0001336HP:0040148Cortical myoclonus1DAB1 CL E G H1600363710ORPHA11072661603448
HP:0001336HP:0025097Eyelid myoclonus1DAB1 CL E G H1600363710ORPHA11072661603448
HP:0001336HP:0010531Spinal myoclonus1DAB1 CL E G H1600363710ORPHA11072661603448
HP:0001336HP:0012462Chin myoclonus1DAB1 CL E G H1600363710ORPHA11072661603448
HP:0001336HP:0003739Myoclonic spasms1DAB1 CL E G H1600363710ORPHA11072661603448
HP:0001336HP:0012323Sleep myoclonus1DAB1 CL E G H1600363710ORPHA11072661603448
HP:0001336HP:0025357Erratic myoclonus1DAB1 CL E G H1600363710ORPHA11072661603448
HP:0001336HP:0007000Morning myoclonic jerks1DAB1 CL E G H1600363710ORPHA11072661603448
HP:0001336HP:0031986Polyminimyoclonus1DAB1 CL E G H1600363710ORPHA11072661603448
HP:0001336HP:0007000Morning myoclonic jerks1DDC CL E G H1644608643Deficiency of aromatic-L-amino-acid decarboxylase608643C1291564OMIM15032719107930
HP:0001336HP:0031986Polyminimyoclonus1DDC CL E G H1644608643Deficiency of aromatic-L-amino-acid decarboxylase608643C1291564OMIM15032719107930
HP:0001336HP:0040148Cortical myoclonus1DDC CL E G H1644608643Deficiency of aromatic-L-amino-acid decarboxylase608643C1291564OMIM15032719107930
HP:0001336HP:0045084Limb myoclonus1DDC CL E G H1644608643Deficiency of aromatic-L-amino-acid decarboxylase608643C1291564OMIM15032719107930
HP:0001336HP:0010530Palatal myoclonus1DDC CL E G H1644608643Deficiency of aromatic-L-amino-acid decarboxylase608643C1291564OMIM15032719107930
HP:0001336HP:0012462Chin myoclonus1DDC CL E G H1644608643Deficiency of aromatic-L-amino-acid decarboxylase608643C1291564OMIM15032719107930
HP:0001336HP:0025097Eyelid myoclonus1DDC CL E G H1644608643Deficiency of aromatic-L-amino-acid decarboxylase608643C1291564OMIM15032719107930
HP:0001336HP:0010531Spinal myoclonus1DDC CL E G H1644608643Deficiency of aromatic-L-amino-acid decarboxylase608643C1291564OMIM15032719107930
HP:0001336HP:0025357Erratic myoclonus1DDC CL E G H1644608643Deficiency of aromatic-L-amino-acid decarboxylase608643C1291564OMIM15032719107930
HP:0001336HP:0003739Myoclonic spasms1DDC CL E G H1644608643Deficiency of aromatic-L-amino-acid decarboxylase608643C1291564OMIM15032719107930
HP:0001336HP:0012323Sleep myoclonus1DDC CL E G H1644608643Deficiency of aromatic-L-amino-acid decarboxylase608643C1291564OMIM15032719107930
HP:0001336HP:0045084Limb myoclonus1DENND5A CL E G H23258617281Epileptic encephalopathy, early infantile, 49617281C4310635OMIM146319344617278
HP:0001336HP:0010530Palatal myoclonus1DENND5A CL E G H23258617281Epileptic encephalopathy, early infantile, 49617281C4310635OMIM146319344617278
HP:0001336HP:0025097Eyelid myoclonus1DENND5A CL E G H23258617281Epileptic encephalopathy, early infantile, 49617281C4310635OMIM146319344617278
HP:0001336HP:0012462Chin myoclonus1DENND5A CL E G H23258617281Epileptic encephalopathy, early infantile, 49617281C4310635OMIM146319344617278
HP:0001336HP:0010531Spinal myoclonus1DENND5A CL E G H23258617281Epileptic encephalopathy, early infantile, 49617281C4310635OMIM146319344617278
HP:0001336HP:0025357Erratic myoclonus1DENND5A CL E G H23258617281Epileptic encephalopathy, early infantile, 49617281C4310635OMIM146319344617278
HP:0001336HP:0003739Myoclonic spasms1DENND5A CL E G H23258617281Epileptic encephalopathy, early infantile, 49617281C4310635OMIM146319344617278
HP:0001336HP:0012323Sleep myoclonus1DENND5A CL E G H23258617281Epileptic encephalopathy, early infantile, 49617281C4310635OMIM146319344617278
HP:0001336HP:0007000Morning myoclonic jerks1DENND5A CL E G H23258617281Epileptic encephalopathy, early infantile, 49617281C4310635OMIM146319344617278
HP:0001336HP:0031986Polyminimyoclonus1DENND5A CL E G H23258617281Epileptic encephalopathy, early infantile, 49617281C4310635OMIM146319344617278
HP:0001336HP:0040148Cortical myoclonus1DENND5A CL E G H23258617281Epileptic encephalopathy, early infantile, 49617281C4310635OMIM146319344617278
HP:0001336HP:0010531Spinal myoclonus1DNAJC5 CL E G H80331162350Ceroid lipofuscinosis neuronal 4B autosomal dominant162350C1834207OMIM142816235611203
HP:0001336HP:0012462Chin myoclonus1DNAJC5 CL E G H80331162350Ceroid lipofuscinosis neuronal 4B autosomal dominant162350C1834207OMIM142816235611203
HP:0001336HP:0025097Eyelid myoclonus1DNAJC5 CL E G H80331162350Ceroid lipofuscinosis neuronal 4B autosomal dominant162350C1834207OMIM142816235611203
HP:0001336HP:0003739Myoclonic spasms1DNAJC5 CL E G H80331162350Ceroid lipofuscinosis neuronal 4B autosomal dominant162350C1834207OMIM142816235611203
HP:0001336HP:0012323Sleep myoclonus1DNAJC5 CL E G H80331162350Ceroid lipofuscinosis neuronal 4B autosomal dominant162350C1834207OMIM142816235611203
HP:0001336HP:0025357Erratic myoclonus1DNAJC5 CL E G H80331162350Ceroid lipofuscinosis neuronal 4B autosomal dominant162350C1834207OMIM142816235611203
HP:0001336HP:0007000Morning myoclonic jerks1DNAJC5 CL E G H80331162350Ceroid lipofuscinosis neuronal 4B autosomal dominant162350C1834207OMIM142816235611203
HP:0001336HP:0031986Polyminimyoclonus1DNAJC5 CL E G H80331162350Ceroid lipofuscinosis neuronal 4B autosomal dominant162350C1834207OMIM142816235611203
HP:0001336HP:0010530Palatal myoclonus1DNAJC5 CL E G H80331162350Ceroid lipofuscinosis neuronal 4B autosomal dominant162350C1834207OMIM142816235611203
HP:0001336HP:0040148Cortical myoclonus1DNAJC5 CL E G H80331162350Ceroid lipofuscinosis neuronal 4B autosomal dominant162350C1834207OMIM142816235611203
HP:0001336HP:0045084Limb myoclonus1DNAJC5 CL E G H80331162350Ceroid lipofuscinosis neuronal 4B autosomal dominant162350C1834207OMIM142816235611203
HP:0001336HP:0007000Morning myoclonic jerks1DNM1 CL E G H17592382ORPHA17652972602377
HP:0001336HP:0031986Polyminimyoclonus1DNM1 CL E G H17592382ORPHA17652972602377
HP:0001336HP:0045084Limb myoclonus1DNM1 CL E G H17592382ORPHA17652972602377
HP:0001336HP:0010530Palatal myoclonus1DNM1 CL E G H17592382ORPHA17652972602377
HP:0001336HP:0040148Cortical myoclonus1DNM1 CL E G H17592382ORPHA17652972602377
HP:0001336HP:0025097Eyelid myoclonus1DNM1 CL E G H17592382ORPHA17652972602377
HP:0001336HP:0010531Spinal myoclonus1DNM1 CL E G H17592382ORPHA17652972602377
HP:0001336HP:0012462Chin myoclonus1DNM1 CL E G H17592382ORPHA17652972602377
HP:0001336HP:0025357Erratic myoclonus1DNM1 CL E G H17592382ORPHA17652972602377
HP:0001336HP:0003739Myoclonic spasms1DNM1 CL E G H17592382ORPHA17652972602377
HP:0001336HP:0012323Sleep myoclonus1DNM1 CL E G H17592382ORPHA17652972602377
HP:0001336HP:0012462Chin myoclonus1EPM2A CL E G H7957254780Lafora disease254780C0751783OMIM14163413607566
HP:0001336HP:0025097Eyelid myoclonus1EPM2A CL E G H7957254780Lafora disease254780C0751783OMIM14163413607566
HP:0001336HP:0010531Spinal myoclonus1EPM2A CL E G H7957254780Lafora disease254780C0751783OMIM14163413607566
HP:0001336HP:0025357Erratic myoclonus1EPM2A CL E G H7957254780Lafora disease254780C0751783OMIM14163413607566
HP:0001336HP:0003739Myoclonic spasms1EPM2A CL E G H7957254780Lafora disease254780C0751783OMIM14163413607566
HP:0001336HP:0012323Sleep myoclonus1EPM2A CL E G H7957254780Lafora disease254780C0751783OMIM14163413607566
HP:0001336HP:0007000Morning myoclonic jerks1EPM2A CL E G H7957254780Lafora disease254780C0751783OMIM14163413607566
HP:0001336HP:0031986Polyminimyoclonus1EPM2A CL E G H7957254780Lafora disease254780C0751783OMIM14163413607566
HP:0001336HP:0040148Cortical myoclonus1EPM2A CL E G H7957254780Lafora disease254780C0751783OMIM14163413607566
HP:0001336HP:0045084Limb myoclonus1EPM2A CL E G H7957254780Lafora disease254780C0751783OMIM14163413607566
HP:0001336HP:0010530Palatal myoclonus1EPM2A CL E G H7957254780Lafora disease254780C0751783OMIM14163413607566
HP:0001336HP:0012462Chin myoclonus1FARS2 CL E G H10667614946Combined oxidative phosphorylation deficiency 14614946C3554168OMIM156421062611592
HP:0001336HP:0025097Eyelid myoclonus1FARS2 CL E G H10667614946Combined oxidative phosphorylation deficiency 14614946C3554168OMIM156421062611592
HP:0001336HP:0010531Spinal myoclonus1FARS2 CL E G H10667614946Combined oxidative phosphorylation deficiency 14614946C3554168OMIM156421062611592
HP:0001336HP:0025357Erratic myoclonus1FARS2 CL E G H10667614946Combined oxidative phosphorylation deficiency 14614946C3554168OMIM156421062611592
HP:0001336HP:0003739Myoclonic spasms1FARS2 CL E G H10667614946Combined oxidative phosphorylation deficiency 14614946C3554168OMIM156421062611592
HP:0001336HP:0012323Sleep myoclonus1FARS2 CL E G H10667614946Combined oxidative phosphorylation deficiency 14614946C3554168OMIM156421062611592
HP:0001336HP:0007000Morning myoclonic jerks1FARS2 CL E G H10667614946Combined oxidative phosphorylation deficiency 14614946C3554168OMIM156421062611592
HP:0001336HP:0031986Polyminimyoclonus1FARS2 CL E G H10667614946Combined oxidative phosphorylation deficiency 14614946C3554168OMIM156421062611592
HP:0001336HP:0040148Cortical myoclonus1FARS2 CL E G H10667614946Combined oxidative phosphorylation deficiency 14614946C3554168OMIM156421062611592
HP:0001336HP:0045084Limb myoclonus1FARS2 CL E G H10667614946Combined oxidative phosphorylation deficiency 14614946C3554168OMIM156421062611592
HP:0001336HP:0010530Palatal myoclonus1FARS2 CL E G H10667614946Combined oxidative phosphorylation deficiency 14614946C3554168OMIM156421062611592
HP:0001336HP:0007000Morning myoclonic jerks1FBXO7 CL E G H25793171695ORPHA124313586605648
HP:0001336HP:0031986Polyminimyoclonus1FBXO7 CL E G H25793171695ORPHA124313586605648
HP:0001336HP:0040148Cortical myoclonus1FBXO7 CL E G H25793171695ORPHA124313586605648
HP:0001336HP:0045084Limb myoclonus1FBXO7 CL E G H25793171695ORPHA124313586605648
HP:0001336HP:0010530Palatal myoclonus1FBXO7 CL E G H25793171695ORPHA124313586605648
HP:0001336HP:0012462Chin myoclonus1FBXO7 CL E G H25793171695ORPHA124313586605648
HP:0001336HP:0025097Eyelid myoclonus1FBXO7 CL E G H25793171695ORPHA124313586605648
HP:0001336HP:0010531Spinal myoclonus1FBXO7 CL E G H25793171695ORPHA124313586605648
HP:0001336HP:0025357Erratic myoclonus1FBXO7 CL E G H25793171695ORPHA124313586605648
HP:0001336HP:0003739Myoclonic spasms1FBXO7 CL E G H25793171695ORPHA124313586605648
HP:0001336HP:0012323Sleep myoclonus1FBXO7 CL E G H25793171695ORPHA124313586605648
HP:0001336HP:0025357Erratic myoclonus1FOXRED1 CL E G H55572618241MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 19618241OMIM132326927613622
HP:0001336HP:0003739Myoclonic spasms1FOXRED1 CL E G H55572618241MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 19618241OMIM132326927613622
HP:0001336HP:0012323Sleep myoclonus1FOXRED1 CL E G H55572618241MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 19618241OMIM132326927613622
HP:0001336HP:0007000Morning myoclonic jerks1FOXRED1 CL E G H55572618241MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 19618241OMIM132326927613622
HP:0001336HP:0031986Polyminimyoclonus1FOXRED1 CL E G H55572618241MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 19618241OMIM132326927613622
HP:0001336HP:0040148Cortical myoclonus1FOXRED1 CL E G H55572618241MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 19618241OMIM132326927613622
HP:0001336HP:0045084Limb myoclonus1FOXRED1 CL E G H55572618241MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 19618241OMIM132326927613622
HP:0001336HP:0010530Palatal myoclonus1FOXRED1 CL E G H55572618241MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 19618241OMIM132326927613622
HP:0001336HP:0012462Chin myoclonus1FOXRED1 CL E G H55572618241MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 19618241OMIM132326927613622
HP:0001336HP:0025097Eyelid myoclonus1FOXRED1 CL E G H55572618241MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 19618241OMIM132326927613622
HP:0001336HP:0010531Spinal myoclonus1FOXRED1 CL E G H55572618241MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 19618241OMIM132326927613622
HP:0001336HP:0031986Polyminimyoclonus1FRRS1L CL E G H23732616981Epileptic encephalopathy, early infantile, 37616981C4310770OMIM14021362604574
HP:0001336HP:0007000Morning myoclonic jerks1FRRS1L CL E G H23732616981Epileptic encephalopathy, early infantile, 37616981C4310770OMIM14021362604574
HP:0001336HP:0010530Palatal myoclonus1FRRS1L CL E G H23732616981Epileptic encephalopathy, early infantile, 37616981C4310770OMIM14021362604574
HP:0001336HP:0040148Cortical myoclonus1FRRS1L CL E G H23732616981Epileptic encephalopathy, early infantile, 37616981C4310770OMIM14021362604574
HP:0001336HP:0045084Limb myoclonus1FRRS1L CL E G H23732616981Epileptic encephalopathy, early infantile, 37616981C4310770OMIM14021362604574
HP:0001336HP:0010531Spinal myoclonus1FRRS1L CL E G H23732616981Epileptic encephalopathy, early infantile, 37616981C4310770OMIM14021362604574
HP:0001336HP:0012462Chin myoclonus1FRRS1L CL E G H23732616981Epileptic encephalopathy, early infantile, 37616981C4310770OMIM14021362604574
HP:0001336HP:0025097Eyelid myoclonus1FRRS1L CL E G H23732616981Epileptic encephalopathy, early infantile, 37616981C4310770OMIM14021362604574
HP:0001336HP:0012323Sleep myoclonus1FRRS1L CL E G H23732616981Epileptic encephalopathy, early infantile, 37616981C4310770OMIM14021362604574
HP:0001336HP:0025357Erratic myoclonus1FRRS1L CL E G H23732616981Epileptic encephalopathy, early infantile, 37616981C4310770OMIM14021362604574
HP:0001336HP:0003739Myoclonic spasms1FRRS1L CL E G H23732616981Epileptic encephalopathy, early infantile, 37616981C4310770OMIM14021362604574
HP:0001336HP:0040148Cortical myoclonus1GABRB2 CL E G H2561617829EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 2617829CN757794OMIM14944082600232
HP:0001336HP:0045084Limb myoclonus1GABRB2 CL E G H2561617829EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 2617829CN757794OMIM14944082600232
HP:0001336HP:0010530Palatal myoclonus1GABRB2 CL E G H2561617829EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 2617829CN757794OMIM14944082600232
HP:0001336HP:0012462Chin myoclonus1GABRB2 CL E G H2561617829EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 2617829CN757794OMIM14944082600232
HP:0001336HP:0025097Eyelid myoclonus1GABRB2 CL E G H2561617829EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 2617829CN757794OMIM14944082600232
HP:0001336HP:0010531Spinal myoclonus1GABRB2 CL E G H2561617829EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 2617829CN757794OMIM14944082600232
HP:0001336HP:0025357Erratic myoclonus1GABRB2 CL E G H2561617829EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 2617829CN757794OMIM14944082600232
HP:0001336HP:0003739Myoclonic spasms1GABRB2 CL E G H2561617829EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 2617829CN757794OMIM14944082600232
HP:0001336HP:0012323Sleep myoclonus1GABRB2 CL E G H2561617829EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 2617829CN757794OMIM14944082600232
HP:0001336HP:0007000Morning myoclonic jerks1GABRB2 CL E G H2561617829EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 2617829CN757794OMIM14944082600232
HP:0001336HP:0031986Polyminimyoclonus1GABRB2 CL E G H2561617829EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 2617829CN757794OMIM14944082600232
HP:0001336HP:0010531Spinal myoclonus1GABRB3 CL E G H25622382ORPHA18384083137192
HP:0001336HP:0012462Chin myoclonus1GABRB3 CL E G H25622382ORPHA18384083137192
HP:0001336HP:0025097Eyelid myoclonus1GABRB3 CL E G H25622382ORPHA18384083137192
HP:0001336HP:0003739Myoclonic spasms1GABRB3 CL E G H25622382ORPHA18384083137192
HP:0001336HP:0012323Sleep myoclonus1GABRB3 CL E G H25622382ORPHA18384083137192
HP:0001336HP:0025357Erratic myoclonus1GABRB3 CL E G H25622382ORPHA18384083137192
HP:0001336HP:0031986Polyminimyoclonus1GABRB3 CL E G H25622382ORPHA18384083137192
HP:0001336HP:0007000Morning myoclonic jerks1GABRB3 CL E G H25622382ORPHA18384083137192
HP:0001336HP:0010530Palatal myoclonus1GABRB3 CL E G H25622382ORPHA18384083137192
HP:0001336HP:0040148Cortical myoclonus1GABRB3 CL E G H25622382ORPHA18384083137192
HP:0001336HP:0045084Limb myoclonus1GABRB3 CL E G H25622382ORPHA18384083137192
HP:0001336HP:0007000Morning myoclonic jerks1GAMT CL E G H2593612736Deficiency of guanidinoacetate methyltransferase612736C0574080OMIM15884136601240
HP:0001336HP:0031986Polyminimyoclonus1GAMT CL E G H2593612736Deficiency of guanidinoacetate methyltransferase612736C0574080OMIM15884136601240
HP:0001336HP:0040148Cortical myoclonus1GAMT CL E G H2593612736Deficiency of guanidinoacetate methyltransferase612736C0574080OMIM15884136601240
HP:0001336HP:0045084Limb myoclonus1GAMT CL E G H2593612736Deficiency of guanidinoacetate methyltransferase612736C0574080OMIM15884136601240
HP:0001336HP:0010530Palatal myoclonus1GAMT CL E G H2593612736Deficiency of guanidinoacetate methyltransferase612736C0574080OMIM15884136601240
HP:0001336HP:0025097Eyelid myoclonus1GAMT CL E G H2593612736Deficiency of guanidinoacetate methyltransferase612736C0574080OMIM15884136601240
HP:0001336HP:0010531Spinal myoclonus1GAMT CL E G H2593612736Deficiency of guanidinoacetate methyltransferase612736C0574080OMIM15884136601240
HP:0001336HP:0012462Chin myoclonus1GAMT CL E G H2593612736Deficiency of guanidinoacetate methyltransferase612736C0574080OMIM15884136601240
HP:0001336HP:0025357Erratic myoclonus1GAMT CL E G H2593612736Deficiency of guanidinoacetate methyltransferase612736C0574080OMIM15884136601240
HP:0001336HP:0003739Myoclonic spasms1GAMT CL E G H2593612736Deficiency of guanidinoacetate methyltransferase612736C0574080OMIM15884136601240
HP:0001336HP:0012323Sleep myoclonus1GAMT CL E G H2593612736Deficiency of guanidinoacetate methyltransferase612736C0574080OMIM15884136601240
HP:0001336HP:0007000Morning myoclonic jerks1GBA CL E G H2629231000Subacute neuronopathic Gaucher's disease231000C0268251OMIM14177606463
HP:0001336HP:0031986Polyminimyoclonus1GBA CL E G H2629231000Subacute neuronopathic Gaucher's disease231000C0268251OMIM14177606463
HP:0001336HP:0040148Cortical myoclonus1GBA CL E G H2629231000Subacute neuronopathic Gaucher's disease231000C0268251OMIM14177606463
HP:0001336HP:0045084Limb myoclonus1GBA CL E G H2629231000Subacute neuronopathic Gaucher's disease231000C0268251OMIM14177606463
HP:0001336HP:0010530Palatal myoclonus1GBA CL E G H2629231000Subacute neuronopathic Gaucher's disease231000C0268251OMIM14177606463
HP:0001336HP:0025097Eyelid myoclonus1GBA CL E G H2629231000Subacute neuronopathic Gaucher's disease231000C0268251OMIM14177606463
HP:0001336HP:0010531Spinal myoclonus1GBA CL E G H2629231000Subacute neuronopathic Gaucher's disease231000C0268251OMIM14177606463
HP:0001336HP:0012462Chin myoclonus1GBA CL E G H2629231000Subacute neuronopathic Gaucher's disease231000C0268251OMIM14177606463
HP:0001336HP:0025357Erratic myoclonus1GBA CL E G H2629231000Subacute neuronopathic Gaucher's disease231000C0268251OMIM14177606463
HP:0001336HP:0003739Myoclonic spasms1GBA CL E G H2629231000Subacute neuronopathic Gaucher's disease231000C0268251OMIM14177606463
HP:0001336HP:0012323Sleep myoclonus1GBA CL E G H2629231000Subacute neuronopathic Gaucher's disease231000C0268251OMIM14177606463
HP:0001336HP:0012462Chin myoclonus1GCSH CL E G H2653605899Non-ketotic hyperglycinemia605899C0751748OMIM11764208238330
HP:0001336HP:0025097Eyelid myoclonus1GCSH CL E G H2653605899Non-ketotic hyperglycinemia605899C0751748OMIM11764208238330
HP:0001336HP:0010531Spinal myoclonus1GCSH CL E G H2653605899Non-ketotic hyperglycinemia605899C0751748OMIM11764208238330
HP:0001336HP:0025357Erratic myoclonus1GCSH CL E G H2653605899Non-ketotic hyperglycinemia605899C0751748OMIM11764208238330
HP:0001336HP:0003739Myoclonic spasms1GCSH CL E G H2653605899Non-ketotic hyperglycinemia605899C0751748OMIM11764208238330
HP:0001336HP:0012323Sleep myoclonus1GCSH CL E G H2653605899Non-ketotic hyperglycinemia605899C0751748OMIM11764208238330
HP:0001336HP:0007000Morning myoclonic jerks1GCSH CL E G H2653605899Non-ketotic hyperglycinemia605899C0751748OMIM11764208238330
HP:0001336HP:0031986Polyminimyoclonus1GCSH CL E G H2653605899Non-ketotic hyperglycinemia605899C0751748OMIM11764208238330
HP:0001336HP:0040148Cortical myoclonus1GCSH CL E G H2653605899Non-ketotic hyperglycinemia605899C0751748OMIM11764208238330
HP:0001336HP:0045084Limb myoclonus1GCSH CL E G H2653605899Non-ketotic hyperglycinemia605899C0751748OMIM11764208238330
HP:0001336HP:0010530Palatal myoclonus1GCSH CL E G H2653605899Non-ketotic hyperglycinemia605899C0751748OMIM11764208238330
HP:0001336HP:0007000Morning myoclonic jerks1GLDC CL E G H2731605899Non-ketotic hyperglycinemia605899C0751748OMIM122384313238300
HP:0001336HP:0031986Polyminimyoclonus1GLDC CL E G H2731605899Non-ketotic hyperglycinemia605899C0751748OMIM122384313238300
HP:0001336HP:0045084Limb myoclonus1GLDC CL E G H2731605899Non-ketotic hyperglycinemia605899C0751748OMIM122384313238300
HP:0001336HP:0010530Palatal myoclonus1GLDC CL E G H2731605899Non-ketotic hyperglycinemia605899C0751748OMIM122384313238300
HP:0001336HP:0040148Cortical myoclonus1GLDC CL E G H2731605899Non-ketotic hyperglycinemia605899C0751748OMIM122384313238300
HP:0001336HP:0010531Spinal myoclonus1GLDC CL E G H2731605899Non-ketotic hyperglycinemia605899C0751748OMIM122384313238300
HP:0001336HP:0012462Chin myoclonus1GLDC CL E G H2731605899Non-ketotic hyperglycinemia605899C0751748OMIM122384313238300
HP:0001336HP:0025097Eyelid myoclonus1GLDC CL E G H2731605899Non-ketotic hyperglycinemia605899C0751748OMIM122384313238300
HP:0001336HP:0003739Myoclonic spasms1GLDC CL E G H2731605899Non-ketotic hyperglycinemia605899C0751748OMIM122384313238300
HP:0001336HP:0012323Sleep myoclonus1GLDC CL E G H2731605899Non-ketotic hyperglycinemia605899C0751748OMIM122384313238300
HP:0001336HP:0025357Erratic myoclonus1GLDC CL E G H2731605899Non-ketotic hyperglycinemia605899C0751748OMIM122384313238300
HP:0001336HP:0010531Spinal myoclonus1GLRA1 CL E G H2741149400Hyperekplexia hereditary149400C1835614OMIM14474326138491
HP:0001336HP:0012462Chin myoclonus1GLRA1 CL E G H2741149400Hyperekplexia hereditary149400C1835614OMIM14474326138491
HP:0001336HP:0025097Eyelid myoclonus1GLRA1 CL E G H2741149400Hyperekplexia hereditary149400C1835614OMIM14474326138491
HP:0001336HP:0003739Myoclonic spasms1GLRA1 CL E G H2741149400Hyperekplexia hereditary149400C1835614OMIM14474326138491
HP:0001336HP:0012323Sleep myoclonus1GLRA1 CL E G H2741149400Hyperekplexia hereditary149400C1835614OMIM14474326138491
HP:0001336HP:0025357Erratic myoclonus1GLRA1 CL E G H2741149400Hyperekplexia hereditary149400C1835614OMIM14474326138491
HP:0001336HP:0007000Morning myoclonic jerks1GLRA1 CL E G H2741149400Hyperekplexia hereditary149400C1835614OMIM14474326138491
HP:0001336HP:0031986Polyminimyoclonus1GLRA1 CL E G H2741149400Hyperekplexia hereditary149400C1835614OMIM14474326138491
HP:0001336HP:0010530Palatal myoclonus1GLRA1 CL E G H2741149400Hyperekplexia hereditary149400C1835614OMIM14474326138491
HP:0001336HP:0040148Cortical myoclonus1GLRA1 CL E G H2741149400Hyperekplexia hereditary149400C1835614OMIM14474326138491
HP:0001336HP:0045084Limb myoclonus1GLRA1 CL E G H2741149400Hyperekplexia hereditary149400C1835614OMIM14474326138491
HP:0001336HP:0007000Morning myoclonic jerks1GLRA1 CL E G H27413197Lateral body wall defectORPHA14474326138491
HP:0001336HP:0031986Polyminimyoclonus1GLRA1 CL E G H27413197Lateral body wall defectORPHA14474326138491
HP:0001336HP:0040148Cortical myoclonus1GLRA1 CL E G H27413197Lateral body wall defectORPHA14474326138491
HP:0001336HP:0045084Limb myoclonus1GLRA1 CL E G H27413197Lateral body wall defectORPHA14474326138491
HP:0001336HP:0010530Palatal myoclonus1GLRA1 CL E G H27413197Lateral body wall defectORPHA14474326138491
HP:0001336HP:0010531Spinal myoclonus1GLRA1 CL E G H27413197Lateral body wall defectORPHA14474326138491
HP:0001336HP:0012462Chin myoclonus1GLRA1 CL E G H27413197Lateral body wall defectORPHA14474326138491
HP:0001336HP:0025097Eyelid myoclonus1GLRA1 CL E G H27413197Lateral body wall defectORPHA14474326138491
HP:0001336HP:0012323Sleep myoclonus1GLRA1 CL E G H27413197Lateral body wall defectORPHA14474326138491
HP:0001336HP:0025357Erratic myoclonus1GLRA1 CL E G H27413197Lateral body wall defectORPHA14474326138491
HP:0001336HP:0003739Myoclonic spasms1GLRA1 CL E G H27413197Lateral body wall defectORPHA14474326138491
HP:0001336HP:0012462Chin myoclonus1GLRB CL E G H2743614619Hyperekplexia 2614619C3553291OMIM13794329138492
HP:0001336HP:0025097Eyelid myoclonus1GLRB CL E G H2743614619Hyperekplexia 2614619C3553291OMIM13794329138492
HP:0001336HP:0010531Spinal myoclonus1GLRB CL E G H2743614619Hyperekplexia 2614619C3553291OMIM13794329138492
HP:0001336HP:0025357Erratic myoclonus1GLRB CL E G H2743614619Hyperekplexia 2614619C3553291OMIM13794329138492
HP:0001336HP:0003739Myoclonic spasms1GLRB CL E G H2743614619Hyperekplexia 2614619C3553291OMIM13794329138492
HP:0001336HP:0012323Sleep myoclonus1GLRB CL E G H2743614619Hyperekplexia 2614619C3553291OMIM13794329138492
HP:0001336HP:0007000Morning myoclonic jerks1GLRB CL E G H2743614619Hyperekplexia 2614619C3553291OMIM13794329138492
HP:0001336HP:0031986Polyminimyoclonus1GLRB CL E G H2743614619Hyperekplexia 2614619C3553291OMIM13794329138492
HP:0001336HP:0040148Cortical myoclonus1GLRB CL E G H2743614619Hyperekplexia 2614619C3553291OMIM13794329138492
HP:0001336HP:0045084Limb myoclonus1GLRB CL E G H2743614619Hyperekplexia 2614619C3553291OMIM13794329138492
HP:0001336HP:0010530Palatal myoclonus1GLRB CL E G H2743614619Hyperekplexia 2614619C3553291OMIM13794329138492
HP:0001336HP:0012462Chin myoclonus1GLRB CL E G H27433197Lateral body wall defectORPHA13794329138492
HP:0001336HP:0025097Eyelid myoclonus1GLRB CL E G H27433197Lateral body wall defectORPHA13794329138492
HP:0001336HP:0010531Spinal myoclonus1GLRB CL E G H27433197Lateral body wall defectORPHA13794329138492
HP:0001336HP:0025357Erratic myoclonus1GLRB CL E G H27433197Lateral body wall defectORPHA13794329138492
HP:0001336HP:0003739Myoclonic spasms1GLRB CL E G H27433197Lateral body wall defectORPHA13794329138492
HP:0001336HP:0012323Sleep myoclonus1GLRB CL E G H27433197Lateral body wall defectORPHA13794329138492
HP:0001336HP:0007000Morning myoclonic jerks1GLRB CL E G H27433197Lateral body wall defectORPHA13794329138492
HP:0001336HP:0031986Polyminimyoclonus1GLRB CL E G H27433197Lateral body wall defectORPHA13794329138492
HP:0001336HP:0040148Cortical myoclonus1GLRB CL E G H27433197Lateral body wall defectORPHA13794329138492
HP:0001336HP:0045084Limb myoclonus1GLRB CL E G H27433197Lateral body wall defectORPHA13794329138492
HP:0001336HP:0010530Palatal myoclonus1GLRB CL E G H27433197Lateral body wall defectORPHA13794329138492
HP:0001336HP:0010531Spinal myoclonus1GLYCTK CL E G H132158220120Deficiency of glycerate kinase220120C1291386OMIM116624247610516
HP:0001336HP:0012462Chin myoclonus1GLYCTK CL E G H132158220120Deficiency of glycerate kinase220120C1291386OMIM116624247610516
HP:0001336HP:0025097Eyelid myoclonus1GLYCTK CL E G H132158220120Deficiency of glycerate kinase220120C1291386OMIM116624247610516
HP:0001336HP:0003739Myoclonic spasms1GLYCTK CL E G H132158220120Deficiency of glycerate kinase220120C1291386OMIM116624247610516
HP:0001336HP:0012323Sleep myoclonus1GLYCTK CL E G H132158220120Deficiency of glycerate kinase220120C1291386OMIM116624247610516
HP:0001336HP:0025357Erratic myoclonus1GLYCTK CL E G H132158220120Deficiency of glycerate kinase220120C1291386OMIM116624247610516
HP:0001336HP:0007000Morning myoclonic jerks1GLYCTK CL E G H132158220120Deficiency of glycerate kinase220120C1291386OMIM116624247610516
HP:0001336HP:0031986Polyminimyoclonus1GLYCTK CL E G H132158220120Deficiency of glycerate kinase220120C1291386OMIM116624247610516
HP:0001336HP:0010530Palatal myoclonus1GLYCTK CL E G H132158220120Deficiency of glycerate kinase220120C1291386OMIM116624247610516
HP:0001336HP:0040148Cortical myoclonus1GLYCTK CL E G H132158220120Deficiency of glycerate kinase220120C1291386OMIM116624247610516
HP:0001336HP:0045084Limb myoclonus1GLYCTK CL E G H132158220120Deficiency of glycerate kinase220120C1291386OMIM116624247610516
HP:0001336HP:0010531Spinal myoclonus1GOSR2 CL E G H9570614018Epilepsy, progressive myoclonic 6614018C3279627OMIM13204431604027
HP:0001336HP:0012462Chin myoclonus1GOSR2 CL E G H9570614018Epilepsy, progressive myoclonic 6614018C3279627OMIM13204431604027
HP:0001336HP:0025097Eyelid myoclonus1GOSR2 CL E G H9570614018Epilepsy, progressive myoclonic 6614018C3279627OMIM13204431604027
HP:0001336HP:0003739Myoclonic spasms1GOSR2 CL E G H9570614018Epilepsy, progressive myoclonic 6614018C3279627OMIM13204431604027
HP:0001336HP:0012323Sleep myoclonus1GOSR2 CL E G H9570614018Epilepsy, progressive myoclonic 6614018C3279627OMIM13204431604027
HP:0001336HP:0025357Erratic myoclonus1GOSR2 CL E G H9570614018Epilepsy, progressive myoclonic 6614018C3279627OMIM13204431604027
HP:0001336HP:0007000Morning myoclonic jerks1GOSR2 CL E G H9570614018Epilepsy, progressive myoclonic 6614018C3279627OMIM13204431604027
HP:0001336HP:0031986Polyminimyoclonus1GOSR2 CL E G H9570614018Epilepsy, progressive myoclonic 6614018C3279627OMIM13204431604027
HP:0001336HP:0045084Limb myoclonus1GOSR2 CL E G H9570614018Epilepsy, progressive myoclonic 6614018C3279627OMIM13204431604027
HP:0001336HP:0010530Palatal myoclonus1GOSR2 CL E G H9570614018Epilepsy, progressive myoclonic 6614018C3279627OMIM13204431604027
HP:0001336HP:0040148Cortical myoclonus1GOSR2 CL E G H9570614018Epilepsy, progressive myoclonic 6614018C3279627OMIM13204431604027
HP:0001336HP:0007000Morning myoclonic jerks1GPHN CL E G H10243149400Hyperekplexia hereditary149400C1835614OMIM1147315465603930
HP:0001336HP:0031986Polyminimyoclonus1GPHN CL E G H10243149400Hyperekplexia hereditary149400C1835614OMIM1147315465603930
HP:0001336HP:0040148Cortical myoclonus1GPHN CL E G H10243149400Hyperekplexia hereditary149400C1835614OMIM1147315465603930
HP:0001336HP:0045084Limb myoclonus1GPHN CL E G H10243149400Hyperekplexia hereditary149400C1835614OMIM1147315465603930
HP:0001336HP:0010530Palatal myoclonus1GPHN CL E G H10243149400Hyperekplexia hereditary149400C1835614OMIM1147315465603930
HP:0001336HP:0010531Spinal myoclonus1GPHN CL E G H10243149400Hyperekplexia hereditary149400C1835614OMIM1147315465603930
HP:0001336HP:0012462Chin myoclonus1GPHN CL E G H10243149400Hyperekplexia hereditary149400C1835614OMIM1147315465603930
HP:0001336HP:0025097Eyelid myoclonus1GPHN CL E G H10243149400Hyperekplexia hereditary149400C1835614OMIM1147315465603930
HP:0001336HP:0012323Sleep myoclonus1GPHN CL E G H10243149400Hyperekplexia hereditary149400C1835614OMIM1147315465603930
HP:0001336HP:0025357Erratic myoclonus1GPHN CL E G H10243149400Hyperekplexia hereditary149400C1835614OMIM1147315465603930
HP:0001336HP:0003739Myoclonic spasms1GPHN CL E G H10243149400Hyperekplexia hereditary149400C1835614OMIM1147315465603930
HP:0001336HP:0007000Morning myoclonic jerks1GPHN CL E G H102433197Lateral body wall defectORPHA1147315465603930
HP:0001336HP:0031986Polyminimyoclonus1GPHN CL E G H102433197Lateral body wall defectORPHA1147315465603930
HP:0001336HP:0045084Limb myoclonus1GPHN CL E G H102433197Lateral body wall defectORPHA1147315465603930
HP:0001336HP:0010530Palatal myoclonus1GPHN CL E G H102433197Lateral body wall defectORPHA1147315465603930
HP:0001336HP:0040148Cortical myoclonus1GPHN CL E G H102433197Lateral body wall defectORPHA1147315465603930
HP:0001336HP:0025097Eyelid myoclonus1GPHN CL E G H102433197Lateral body wall defectORPHA1147315465603930
HP:0001336HP:0010531Spinal myoclonus1GPHN CL E G H102433197Lateral body wall defectORPHA1147315465603930
HP:0001336HP:0012462Chin myoclonus1GPHN CL E G H102433197Lateral body wall defectORPHA1147315465603930
HP:0001336HP:0025357Erratic myoclonus1GPHN CL E G H102433197Lateral body wall defectORPHA1147315465603930
HP:0001336HP:0003739Myoclonic spasms1GPHN CL E G H102433197Lateral body wall defectORPHA1147315465603930
HP:0001336HP:0012323Sleep myoclonus1GPHN CL E G H102433197Lateral body wall defectORPHA1147315465603930
HP:0001336HP:0031986Polyminimyoclonus1GRIN1 CL E G H2902614254Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant614254C3280282OMIM19294584138249
HP:0001336HP:0007000Morning myoclonic jerks1GRIN1 CL E G H2902614254Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant614254C3280282OMIM19294584138249
HP:0001336HP:0040148Cortical myoclonus1GRIN1 CL E G H2902614254Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant614254C3280282OMIM19294584138249
HP:0001336HP:0045084Limb myoclonus1GRIN1 CL E G H2902614254Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant614254C3280282OMIM19294584138249
HP:0001336HP:0010530Palatal myoclonus1GRIN1 CL E G H2902614254Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant614254C3280282OMIM19294584138249
HP:0001336HP:0010531Spinal myoclonus1GRIN1 CL E G H2902614254Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant614254C3280282OMIM19294584138249
HP:0001336HP:0012462Chin myoclonus1GRIN1 CL E G H2902614254Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant614254C3280282OMIM19294584138249
HP:0001336HP:0025097Eyelid myoclonus1GRIN1 CL E G H2902614254Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant614254C3280282OMIM19294584138249
HP:0001336HP:0012323Sleep myoclonus1GRIN1 CL E G H2902614254Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant614254C3280282OMIM19294584138249
HP:0001336HP:0025357Erratic myoclonus1GRIN1 CL E G H2902614254Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant614254C3280282OMIM19294584138249
HP:0001336HP:0003739Myoclonic spasms1GRIN1 CL E G H2902614254Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant614254C3280282OMIM19294584138249
HP:0001336HP:0010531Spinal myoclonus1GRIN2B CL E G H29043451Meier Blumberg Imahorn syndromeORPHA113534586138252
HP:0001336HP:0012462Chin myoclonus1GRIN2B CL E G H29043451Meier Blumberg Imahorn syndromeORPHA113534586138252
HP:0001336HP:0025097Eyelid myoclonus1GRIN2B CL E G H29043451Meier Blumberg Imahorn syndromeORPHA113534586138252
HP:0001336HP:0003739Myoclonic spasms1GRIN2B CL E G H29043451Meier Blumberg Imahorn syndromeORPHA113534586138252
HP:0001336HP:0012323Sleep myoclonus1GRIN2B CL E G H29043451Meier Blumberg Imahorn syndromeORPHA113534586138252
HP:0001336HP:0025357Erratic myoclonus1GRIN2B CL E G H29043451Meier Blumberg Imahorn syndromeORPHA113534586138252
HP:0001336HP:0031986Polyminimyoclonus1GRIN2B CL E G H29043451Meier Blumberg Imahorn syndromeORPHA113534586138252
HP:0001336HP:0007000Morning myoclonic jerks1GRIN2B CL E G H29043451Meier Blumberg Imahorn syndromeORPHA113534586138252
HP:0001336HP:0010530Palatal myoclonus1GRIN2B CL E G H29043451Meier Blumberg Imahorn syndromeORPHA113534586138252
HP:0001336HP:0040148Cortical myoclonus1GRIN2B CL E G H29043451Meier Blumberg Imahorn syndromeORPHA113534586138252
HP:0001336HP:0045084Limb myoclonus1GRIN2B CL E G H29043451Meier Blumberg Imahorn syndromeORPHA113534586138252
HP:0001336HP:0012462Chin myoclonus1GUF1 CL E G H60558617065Epileptic encephalopathy, early infantile, 40617065C4310737OMIM130925799617064
HP:0001336HP:0025097Eyelid myoclonus1GUF1 CL E G H60558617065Epileptic encephalopathy, early infantile, 40617065C4310737OMIM130925799617064
HP:0001336HP:0010531Spinal myoclonus1GUF1 CL E G H60558617065Epileptic encephalopathy, early infantile, 40617065C4310737OMIM130925799617064
HP:0001336HP:0025357Erratic myoclonus1GUF1 CL E G H60558617065Epileptic encephalopathy, early infantile, 40617065C4310737OMIM130925799617064
HP:0001336HP:0003739Myoclonic spasms1GUF1 CL E G H60558617065Epileptic encephalopathy, early infantile, 40617065C4310737OMIM130925799617064
HP:0001336HP:0012323Sleep myoclonus1GUF1 CL E G H60558617065Epileptic encephalopathy, early infantile, 40617065C4310737OMIM130925799617064
HP:0001336HP:0007000Morning myoclonic jerks1GUF1 CL E G H60558617065Epileptic encephalopathy, early infantile, 40617065C4310737OMIM130925799617064
HP:0001336HP:0031986Polyminimyoclonus1GUF1 CL E G H60558617065Epileptic encephalopathy, early infantile, 40617065C4310737OMIM130925799617064
HP:0001336HP:0040148Cortical myoclonus1GUF1 CL E G H60558617065Epileptic encephalopathy, early infantile, 40617065C4310737OMIM130925799617064
HP:0001336HP:0045084Limb myoclonus1GUF1 CL E G H60558617065Epileptic encephalopathy, early infantile, 40617065C4310737OMIM130925799617064
HP:0001336HP:0010530Palatal myoclonus1GUF1 CL E G H60558617065Epileptic encephalopathy, early infantile, 40617065C4310737OMIM130925799617064
HP:0001336HP:0007000Morning myoclonic jerks1GUF1 CL E G H605583451Meier Blumberg Imahorn syndromeORPHA130925799617064
HP:0001336HP:0031986Polyminimyoclonus1GUF1 CL E G H605583451Meier Blumberg Imahorn syndromeORPHA130925799617064
HP:0001336HP:0040148Cortical myoclonus1GUF1 CL E G H605583451Meier Blumberg Imahorn syndromeORPHA130925799617064
HP:0001336HP:0045084Limb myoclonus1GUF1 CL E G H605583451Meier Blumberg Imahorn syndromeORPHA130925799617064
HP:0001336HP:0010530Palatal myoclonus1GUF1 CL E G H605583451Meier Blumberg Imahorn syndromeORPHA130925799617064
HP:0001336HP:0010531Spinal myoclonus1GUF1 CL E G H605583451Meier Blumberg Imahorn syndromeORPHA130925799617064
HP:0001336HP:0012462Chin myoclonus1GUF1 CL E G H605583451Meier Blumberg Imahorn syndromeORPHA130925799617064
HP:0001336HP:0025097Eyelid myoclonus1GUF1 CL E G H605583451Meier Blumberg Imahorn syndromeORPHA130925799617064
HP:0001336HP:0012323Sleep myoclonus1GUF1 CL E G H605583451Meier Blumberg Imahorn syndromeORPHA130925799617064
HP:0001336HP:0025357Erratic myoclonus1GUF1 CL E G H605583451Meier Blumberg Imahorn syndromeORPHA130925799617064
HP:0001336HP:0003739Myoclonic spasms1GUF1 CL E G H605583451Meier Blumberg Imahorn syndromeORPHA130925799617064
HP:0001336HP:0031986Polyminimyoclonus1HIBCH CL E G H26275250620Beta-hydroxyisobutyryl-CoA deacylase deficiency250620C0342738OMIM12354908610690
HP:0001336HP:0007000Morning myoclonic jerks1HIBCH CL E G H26275250620Beta-hydroxyisobutyryl-CoA deacylase deficiency250620C0342738OMIM12354908610690
HP:0001336HP:0040148Cortical myoclonus1HIBCH CL E G H26275250620Beta-hydroxyisobutyryl-CoA deacylase deficiency250620C0342738OMIM12354908610690
HP:0001336HP:0045084Limb myoclonus1HIBCH CL E G H26275250620Beta-hydroxyisobutyryl-CoA deacylase deficiency250620C0342738OMIM12354908610690
HP:0001336HP:0010530Palatal myoclonus1HIBCH CL E G H26275250620Beta-hydroxyisobutyryl-CoA deacylase deficiency250620C0342738OMIM12354908610690
HP:0001336HP:0010531Spinal myoclonus1HIBCH CL E G H26275250620Beta-hydroxyisobutyryl-CoA deacylase deficiency250620C0342738OMIM12354908610690
HP:0001336HP:0012462Chin myoclonus1HIBCH CL E G H26275250620Beta-hydroxyisobutyryl-CoA deacylase deficiency250620C0342738OMIM12354908610690
HP:0001336HP:0025097Eyelid myoclonus1HIBCH CL E G H26275250620Beta-hydroxyisobutyryl-CoA deacylase deficiency250620C0342738OMIM12354908610690
HP:0001336HP:0012323Sleep myoclonus1HIBCH CL E G H26275250620Beta-hydroxyisobutyryl-CoA deacylase deficiency250620C0342738OMIM12354908610690
HP:0001336HP:0025357Erratic myoclonus1HIBCH CL E G H26275250620Beta-hydroxyisobutyryl-CoA deacylase deficiency250620C0342738OMIM12354908610690
HP:0001336HP:0003739Myoclonic spasms1HIBCH CL E G H26275250620Beta-hydroxyisobutyryl-CoA deacylase deficiency250620C0342738OMIM12354908610690
HP:0001336HP:0010531Spinal myoclonus1HMGCL CL E G H3155246450Deficiency of hydroxymethylglutaryl-CoA lyase246450C0268601OMIM14205005613898
HP:0001336HP:0012462Chin myoclonus1HMGCL CL E G H3155246450Deficiency of hydroxymethylglutaryl-CoA lyase246450C0268601OMIM14205005613898
HP:0001336HP:0025097Eyelid myoclonus1HMGCL CL E G H3155246450Deficiency of hydroxymethylglutaryl-CoA lyase246450C0268601OMIM14205005613898
HP:0001336HP:0003739Myoclonic spasms1HMGCL CL E G H3155246450Deficiency of hydroxymethylglutaryl-CoA lyase246450C0268601OMIM14205005613898
HP:0001336HP:0012323Sleep myoclonus1HMGCL CL E G H3155246450Deficiency of hydroxymethylglutaryl-CoA lyase246450C0268601OMIM14205005613898
HP:0001336HP:0025357Erratic myoclonus1HMGCL CL E G H3155246450Deficiency of hydroxymethylglutaryl-CoA lyase246450C0268601OMIM14205005613898
HP:0001336HP:0007000Morning myoclonic jerks1HMGCL CL E G H3155246450Deficiency of hydroxymethylglutaryl-CoA lyase246450C0268601OMIM14205005613898
HP:0001336HP:0031986Polyminimyoclonus1HMGCL CL E G H3155246450Deficiency of hydroxymethylglutaryl-CoA lyase246450C0268601OMIM14205005613898
HP:0001336HP:0010530Palatal myoclonus1HMGCL CL E G H3155246450Deficiency of hydroxymethylglutaryl-CoA lyase246450C0268601OMIM14205005613898
HP:0001336HP:0040148Cortical myoclonus1HMGCL CL E G H3155246450Deficiency of hydroxymethylglutaryl-CoA lyase246450C0268601OMIM14205005613898
HP:0001336HP:0045084Limb myoclonus1HMGCL CL E G H3155246450Deficiency of hydroxymethylglutaryl-CoA lyase246450C0268601OMIM14205005613898
HP:0001336HP:0007000Morning myoclonic jerks1KCNA2 CL E G H3737616366Epileptic encephalopathy, early infantile, 32616366C4225350OMIM14016220176262
HP:0001336HP:0031986Polyminimyoclonus1KCNA2 CL E G H3737616366Epileptic encephalopathy, early infantile, 32616366C4225350OMIM14016220176262
HP:0001336HP:0040148Cortical myoclonus1KCNA2 CL E G H3737616366Epileptic encephalopathy, early infantile, 32616366C4225350OMIM14016220176262
HP:0001336HP:0045084Limb myoclonus1KCNA2 CL E G H3737616366Epileptic encephalopathy, early infantile, 32616366C4225350OMIM14016220176262
HP:0001336HP:0010530Palatal myoclonus1KCNA2 CL E G H3737616366Epileptic encephalopathy, early infantile, 32616366C4225350OMIM14016220176262
HP:0001336HP:0012462Chin myoclonus1KCNA2 CL E G H3737616366Epileptic encephalopathy, early infantile, 32616366C4225350OMIM14016220176262
HP:0001336HP:0025097Eyelid myoclonus1KCNA2 CL E G H3737616366Epileptic encephalopathy, early infantile, 32616366C4225350OMIM14016220176262
HP:0001336HP:0010531Spinal myoclonus1KCNA2 CL E G H3737616366Epileptic encephalopathy, early infantile, 32616366C4225350OMIM14016220176262
HP:0001336HP:0025357Erratic myoclonus1KCNA2 CL E G H3737616366Epileptic encephalopathy, early infantile, 32616366C4225350OMIM14016220176262
HP:0001336HP:0003739Myoclonic spasms1KCNA2 CL E G H3737616366Epileptic encephalopathy, early infantile, 32616366C4225350OMIM14016220176262
HP:0001336HP:0012323Sleep myoclonus1KCNA2 CL E G H3737616366Epileptic encephalopathy, early infantile, 32616366C4225350OMIM14016220176262
HP:0001336HP:0031986Polyminimyoclonus1KCNC1 CL E G H3746616187Epilepsy, progressive myoclonic 7616187C4015420OMIM13916233176258
HP:0001336HP:0007000Morning myoclonic jerks1KCNC1 CL E G H3746616187Epilepsy, progressive myoclonic 7616187C4015420OMIM13916233176258
HP:0001336HP:0010530Palatal myoclonus1KCNC1 CL E G H3746616187Epilepsy, progressive myoclonic 7616187C4015420OMIM13916233176258
HP:0001336HP:0040148Cortical myoclonus1KCNC1 CL E G H3746616187Epilepsy, progressive myoclonic 7616187C4015420OMIM13916233176258
HP:0001336HP:0045084Limb myoclonus1KCNC1 CL E G H3746616187Epilepsy, progressive myoclonic 7616187C4015420OMIM13916233176258
HP:0001336HP:0010531Spinal myoclonus1KCNC1 CL E G H3746616187Epilepsy, progressive myoclonic 7616187C4015420OMIM13916233176258
HP:0001336HP:0012462Chin myoclonus1KCNC1 CL E G H3746616187Epilepsy, progressive myoclonic 7616187C4015420OMIM13916233176258
HP:0001336HP:0025097Eyelid myoclonus1KCNC1 CL E G H3746616187Epilepsy, progressive myoclonic 7616187C4015420OMIM13916233176258
HP:0001336HP:0012323Sleep myoclonus1KCNC1 CL E G H3746616187Epilepsy, progressive myoclonic 7616187C4015420OMIM13916233176258
HP:0001336HP:0025357Erratic myoclonus1KCNC1 CL E G H3746616187Epilepsy, progressive myoclonic 7616187C4015420OMIM13916233176258
HP:0001336HP:0003739Myoclonic spasms1KCNC1 CL E G H3746616187Epilepsy, progressive myoclonic 7616187C4015420OMIM13916233176258
HP:0001336HP:0010531Spinal myoclonus1KCND3 CL E G H3752607346Spinocerebellar ataxia 19607346C1846367OMIM14676239605411
HP:0001336HP:0012462Chin myoclonus1KCND3 CL E G H3752607346Spinocerebellar ataxia 19607346C1846367OMIM14676239605411
HP:0001336HP:0025097Eyelid myoclonus1KCND3 CL E G H3752607346Spinocerebellar ataxia 19607346C1846367OMIM14676239605411
HP:0001336HP:0012323Sleep myoclonus1KCND3 CL E G H3752607346Spinocerebellar ataxia 19607346C1846367OMIM14676239605411
HP:0001336HP:0025357Erratic myoclonus1KCND3 CL E G H3752607346Spinocerebellar ataxia 19607346C1846367OMIM14676239605411
HP:0001336HP:0003739Myoclonic spasms1KCND3 CL E G H3752607346Spinocerebellar ataxia 19607346C1846367OMIM14676239605411
HP:0001336HP:0031986Polyminimyoclonus1KCND3 CL E G H3752607346Spinocerebellar ataxia 19607346C1846367OMIM14676239605411
HP:0001336HP:0007000Morning myoclonic jerks1KCND3 CL E G H3752607346Spinocerebellar ataxia 19607346C1846367OMIM14676239605411
HP:0001336HP:0010530Palatal myoclonus1KCND3 CL E G H3752607346Spinocerebellar ataxia 19607346C1846367OMIM14676239605411
HP:0001336HP:0040148Cortical myoclonus1KCND3 CL E G H3752607346Spinocerebellar ataxia 19607346C1846367OMIM14676239605411
HP:0001336HP:0045084Limb myoclonus1KCND3 CL E G H3752607346Spinocerebellar ataxia 19607346C1846367OMIM14676239605411
HP:0001336HP:0025357Erratic myoclonus1KCNQ2 CL E G H3785306ORPHA119626296602235
HP:0001336HP:0003739Myoclonic spasms1KCNQ2 CL E G H3785306ORPHA119626296602235
HP:0001336HP:0012323Sleep myoclonus1KCNQ2 CL E G H3785306ORPHA119626296602235
HP:0001336HP:0007000Morning myoclonic jerks1KCNQ2 CL E G H3785306ORPHA119626296602235
HP:0001336HP:0031986Polyminimyoclonus1KCNQ2 CL E G H3785306ORPHA119626296602235
HP:0001336HP:0040148Cortical myoclonus1KCNQ2 CL E G H3785306ORPHA119626296602235
HP:0001336HP:0045084Limb myoclonus1KCNQ2 CL E G H3785306ORPHA119626296602235
HP:0001336HP:0010530Palatal myoclonus1KCNQ2 CL E G H3785306ORPHA119626296602235
HP:0001336HP:0012462Chin myoclonus1KCNQ2 CL E G H3785306ORPHA119626296602235
HP:0001336HP:0025097Eyelid myoclonus1KCNQ2 CL E G H3785306ORPHA119626296602235
HP:0001336HP:0010531Spinal myoclonus1KCNQ2 CL E G H3785306ORPHA119626296602235
HP:0001336HP:0045084Limb myoclonus1KCNQ3 CL E G H3786306ORPHA112276297602232
HP:0001336HP:0010530Palatal myoclonus1KCNQ3 CL E G H3786306ORPHA112276297602232
HP:0001336HP:0040148Cortical myoclonus1KCNQ3 CL E G H3786306ORPHA112276297602232
HP:0001336HP:0025097Eyelid myoclonus1KCNQ3 CL E G H3786306ORPHA112276297602232
HP:0001336HP:0010531Spinal myoclonus1KCNQ3 CL E G H3786306ORPHA112276297602232
HP:0001336HP:0012462Chin myoclonus1KCNQ3 CL E G H3786306ORPHA112276297602232
HP:0001336HP:0025357Erratic myoclonus1KCNQ3 CL E G H3786306ORPHA112276297602232
HP:0001336HP:0003739Myoclonic spasms1KCNQ3 CL E G H3786306ORPHA112276297602232
HP:0001336HP:0012323Sleep myoclonus1KCNQ3 CL E G H3786306ORPHA112276297602232
HP:0001336HP:0007000Morning myoclonic jerks1KCNQ3 CL E G H3786306ORPHA112276297602232
HP:0001336HP:0031986Polyminimyoclonus1KCNQ3 CL E G H3786306ORPHA112276297602232
HP:0001336HP:0025097Eyelid myoclonus1KCTD17 CL E G H79734616398Dystonia 26, myoclonic616398C4225341OMIM114425705616386
HP:0001336HP:0010531Spinal myoclonus1KCTD17 CL E G H79734616398Dystonia 26, myoclonic616398C4225341OMIM114425705616386
HP:0001336HP:0012462Chin myoclonus1KCTD17 CL E G H79734616398Dystonia 26, myoclonic616398C4225341OMIM114425705616386
HP:0001336HP:0003739Myoclonic spasms1KCTD17 CL E G H79734616398Dystonia 26, myoclonic616398C4225341OMIM114425705616386
HP:0001336HP:0012323Sleep myoclonus1KCTD17 CL E G H79734616398Dystonia 26, myoclonic616398C4225341OMIM114425705616386
HP:0001336HP:0025357Erratic myoclonus1KCTD17 CL E G H79734616398Dystonia 26, myoclonic616398C4225341OMIM114425705616386
HP:0001336HP:0007000Morning myoclonic jerks1KCTD17 CL E G H79734616398Dystonia 26, myoclonic616398C4225341OMIM114425705616386
HP:0001336HP:0031986Polyminimyoclonus1KCTD17 CL E G H79734616398Dystonia 26, myoclonic616398C4225341OMIM114425705616386
HP:0001336HP:0045084Limb myoclonus1KCTD17 CL E G H79734616398Dystonia 26, myoclonic616398C4225341OMIM114425705616386
HP:0001336HP:0010530Palatal myoclonus1KCTD17 CL E G H79734616398Dystonia 26, myoclonic616398C4225341OMIM114425705616386
HP:0001336HP:0040148Cortical myoclonus1KCTD17 CL E G H79734616398Dystonia 26, myoclonic616398C4225341OMIM114425705616386
HP:0001336HP:0007000Morning myoclonic jerks1KIF5A CL E G H3798617235Myoclonus, intractable, neonatal617235C4310658OMIM110146323602821
HP:0001336HP:0031986Polyminimyoclonus1KIF5A CL E G H3798617235Myoclonus, intractable, neonatal617235C4310658OMIM110146323602821
HP:0001336HP:0040148Cortical myoclonus1KIF5A CL E G H3798617235Myoclonus, intractable, neonatal617235C4310658OMIM110146323602821
HP:0001336HP:0045084Limb myoclonus1KIF5A CL E G H3798617235Myoclonus, intractable, neonatal617235C4310658OMIM110146323602821
HP:0001336HP:0010530Palatal myoclonus1KIF5A CL E G H3798617235Myoclonus, intractable, neonatal617235C4310658OMIM110146323602821
HP:0001336HP:0012462Chin myoclonus1KIF5A CL E G H3798617235Myoclonus, intractable, neonatal617235C4310658OMIM110146323602821
HP:0001336HP:0025097Eyelid myoclonus1KIF5A CL E G H3798617235Myoclonus, intractable, neonatal617235C4310658OMIM110146323602821
HP:0001336HP:0010531Spinal myoclonus1KIF5A CL E G H3798617235Myoclonus, intractable, neonatal617235C4310658OMIM110146323602821
HP:0001336HP:0025357Erratic myoclonus1KIF5A CL E G H3798617235Myoclonus, intractable, neonatal617235C4310658OMIM110146323602821
HP:0001336HP:0003739Myoclonic spasms1KIF5A CL E G H3798617235Myoclonus, intractable, neonatal617235C4310658OMIM110146323602821
HP:0001336HP:0012323Sleep myoclonus1KIF5A CL E G H3798617235Myoclonus, intractable, neonatal617235C4310658OMIM110146323602821
HP:0001336HP:0010531Spinal myoclonus1LIAS CL E G H11019614462Pyruvate dehydrogenase lipoic acid synthetase deficiency614462C3280887OMIM141016429607031
HP:0001336HP:0012462Chin myoclonus1LIAS CL E G H11019614462Pyruvate dehydrogenase lipoic acid synthetase deficiency614462C3280887OMIM141016429607031
HP:0001336HP:0025097Eyelid myoclonus1LIAS CL E G H11019614462Pyruvate dehydrogenase lipoic acid synthetase deficiency614462C3280887OMIM141016429607031
HP:0001336HP:0003739Myoclonic spasms1LIAS CL E G H11019614462Pyruvate dehydrogenase lipoic acid synthetase deficiency614462C3280887OMIM141016429607031
HP:0001336HP:0012323Sleep myoclonus1LIAS CL E G H11019614462Pyruvate dehydrogenase lipoic acid synthetase deficiency614462C3280887OMIM141016429607031
HP:0001336HP:0025357Erratic myoclonus1LIAS CL E G H11019614462Pyruvate dehydrogenase lipoic acid synthetase deficiency614462C3280887OMIM141016429607031
HP:0001336HP:0007000Morning myoclonic jerks1LIAS CL E G H11019614462Pyruvate dehydrogenase lipoic acid synthetase deficiency614462C3280887OMIM141016429607031
HP:0001336HP:0031986Polyminimyoclonus1LIAS CL E G H11019614462Pyruvate dehydrogenase lipoic acid synthetase deficiency614462C3280887OMIM141016429607031
HP:0001336HP:0045084Limb myoclonus1LIAS CL E G H11019614462Pyruvate dehydrogenase lipoic acid synthetase deficiency614462C3280887OMIM141016429607031
HP:0001336HP:0010530Palatal myoclonus1LIAS CL E G H11019614462Pyruvate dehydrogenase lipoic acid synthetase deficiency614462C3280887OMIM141016429607031
HP:0001336HP:0040148Cortical myoclonus1LIAS CL E G H11019614462Pyruvate dehydrogenase lipoic acid synthetase deficiency614462C3280887OMIM141016429607031
HP:0001336HP:0012462Chin myoclonus1LMNB2 CL E G H84823616540Epilepsy, progressive myoclonic, 9616540C4225289OMIM15486638150341
HP:0001336HP:0025097Eyelid myoclonus1LMNB2 CL E G H84823616540Epilepsy, progressive myoclonic, 9616540C4225289OMIM15486638150341
HP:0001336HP:0010531Spinal myoclonus1LMNB2 CL E G H84823616540Epilepsy, progressive myoclonic, 9616540C4225289OMIM15486638150341
HP:0001336HP:0025357Erratic myoclonus1LMNB2 CL E G H84823616540Epilepsy, progressive myoclonic, 9616540C4225289OMIM15486638150341
HP:0001336HP:0003739Myoclonic spasms1LMNB2 CL E G H84823616540Epilepsy, progressive myoclonic, 9616540C4225289OMIM15486638150341
HP:0001336HP:0012323Sleep myoclonus1LMNB2 CL E G H84823616540Epilepsy, progressive myoclonic, 9616540C4225289OMIM15486638150341
HP:0001336HP:0007000Morning myoclonic jerks1LMNB2 CL E G H84823616540Epilepsy, progressive myoclonic, 9616540C4225289OMIM15486638150341
HP:0001336HP:0031986Polyminimyoclonus1LMNB2 CL E G H84823616540Epilepsy, progressive myoclonic, 9616540C4225289OMIM15486638150341
HP:0001336HP:0040148Cortical myoclonus1LMNB2 CL E G H84823616540Epilepsy, progressive myoclonic, 9616540C4225289OMIM15486638150341
HP:0001336HP:0045084Limb myoclonus1LMNB2 CL E G H84823616540Epilepsy, progressive myoclonic, 9616540C4225289OMIM15486638150341
HP:0001336HP:0010530Palatal myoclonus1LMNB2 CL E G H84823616540Epilepsy, progressive myoclonic, 9616540C4225289OMIM15486638150341
HP:0001336HP:0007000Morning myoclonic jerks1MAPK10 CL E G H56022382ORPHA1706872602897
HP:0001336HP:0031986Polyminimyoclonus1MAPK10 CL E G H56022382ORPHA1706872602897
HP:0001336HP:0040148Cortical myoclonus1MAPK10 CL E G H56022382ORPHA1706872602897
HP:0001336HP:0045084Limb myoclonus1MAPK10 CL E G H56022382ORPHA1706872602897
HP:0001336HP:0010530Palatal myoclonus1MAPK10 CL E G H56022382ORPHA1706872602897
HP:0001336HP:0010531Spinal myoclonus1MAPK10 CL E G H56022382ORPHA1706872602897
HP:0001336HP:0012462Chin myoclonus1MAPK10 CL E G H56022382ORPHA1706872602897
HP:0001336HP:0025097Eyelid myoclonus1MAPK10 CL E G H56022382ORPHA1706872602897
HP:0001336HP:0025357Erratic myoclonus1MAPK10 CL E G H56022382ORPHA1706872602897
HP:0001336HP:0003739Myoclonic spasms1MAPK10 CL E G H56022382ORPHA1706872602897
HP:0001336HP:0012323Sleep myoclonus1MAPK10 CL E G H56022382ORPHA1706872602897
HP:0001336HP:0007000Morning myoclonic jerks1MECP2 CL E G H4204300673Severe neonatal-onset encephalopathy with microcephaly300673C1968556OMIM119256990300005
HP:0001336HP:0031986Polyminimyoclonus1MECP2 CL E G H4204300673Severe neonatal-onset encephalopathy with microcephaly300673C1968556OMIM119256990300005
HP:0001336HP:0045084Limb myoclonus1MECP2 CL E G H4204300673Severe neonatal-onset encephalopathy with microcephaly300673C1968556OMIM119256990300005
HP:0001336HP:0010530Palatal myoclonus1MECP2 CL E G H4204300673Severe neonatal-onset encephalopathy with microcephaly300673C1968556OMIM119256990300005
HP:0001336HP:0040148Cortical myoclonus1MECP2 CL E G H4204300673Severe neonatal-onset encephalopathy with microcephaly300673C1968556OMIM119256990300005
HP:0001336HP:0010531Spinal myoclonus1MECP2 CL E G H4204300673Severe neonatal-onset encephalopathy with microcephaly300673C1968556OMIM119256990300005
HP:0001336HP:0012462Chin myoclonus1MECP2 CL E G H4204300673Severe neonatal-onset encephalopathy with microcephaly300673C1968556OMIM119256990300005
HP:0001336HP:0025097Eyelid myoclonus1MECP2 CL E G H4204300673Severe neonatal-onset encephalopathy with microcephaly300673C1968556OMIM119256990300005
HP:0001336HP:0003739Myoclonic spasms1MECP2 CL E G H4204300673Severe neonatal-onset encephalopathy with microcephaly300673C1968556OMIM119256990300005
HP:0001336HP:0012323Sleep myoclonus1MECP2 CL E G H4204300673Severe neonatal-onset encephalopathy with microcephaly300673C1968556OMIM119256990300005
HP:0001336HP:0025357Erratic myoclonus1MECP2 CL E G H4204300673Severe neonatal-onset encephalopathy with microcephaly300673C1968556OMIM119256990300005
HP:0001336HP:0012323Sleep myoclonus1MECR CL E G H51102617282Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities617282C4310634OMIM115119691608205
HP:0001336HP:0025357Erratic myoclonus1MECR CL E G H51102617282Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities617282C4310634OMIM115119691608205
HP:0001336HP:0003739Myoclonic spasms1MECR CL E G H51102617282Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities617282C4310634OMIM115119691608205
HP:0001336HP:0031986Polyminimyoclonus1MECR CL E G H51102617282Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities617282C4310634OMIM115119691608205
HP:0001336HP:0007000Morning myoclonic jerks1MECR CL E G H51102617282Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities617282C4310634OMIM115119691608205
HP:0001336HP:0010530Palatal myoclonus1MECR CL E G H51102617282Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities617282C4310634OMIM115119691608205
HP:0001336HP:0040148Cortical myoclonus1MECR CL E G H51102617282Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities617282C4310634OMIM115119691608205
HP:0001336HP:0045084Limb myoclonus1MECR CL E G H51102617282Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities617282C4310634OMIM115119691608205
HP:0001336HP:0010531Spinal myoclonus1MECR CL E G H51102617282Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities617282C4310634OMIM115119691608205
HP:0001336HP:0012462Chin myoclonus1MECR CL E G H51102617282Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities617282C4310634OMIM115119691608205
HP:0001336HP:0025097Eyelid myoclonus1MECR CL E G H51102617282Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities617282C4310634OMIM115119691608205
HP:0001336HP:0012462Chin myoclonus1MT-TF CL E G H4558545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17481590070
HP:0001336HP:0025097Eyelid myoclonus1MT-TF CL E G H4558545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17481590070
HP:0001336HP:0010531Spinal myoclonus1MT-TF CL E G H4558545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17481590070
HP:0001336HP:0025357Erratic myoclonus1MT-TF CL E G H4558545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17481590070
HP:0001336HP:0003739Myoclonic spasms1MT-TF CL E G H4558545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17481590070
HP:0001336HP:0012323Sleep myoclonus1MT-TF CL E G H4558545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17481590070
HP:0001336HP:0007000Morning myoclonic jerks1MT-TF CL E G H4558545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17481590070
HP:0001336HP:0031986Polyminimyoclonus1MT-TF CL E G H4558545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17481590070
HP:0001336HP:0040148Cortical myoclonus1MT-TF CL E G H4558545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17481590070
HP:0001336HP:0045084Limb myoclonus1MT-TF CL E G H4558545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17481590070
HP:0001336HP:0010530Palatal myoclonus1MT-TF CL E G H4558545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17481590070
HP:0001336HP:0007000Morning myoclonic jerks1MT-TI CL E G H4565545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17488590045
HP:0001336HP:0031986Polyminimyoclonus1MT-TI CL E G H4565545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17488590045
HP:0001336HP:0045084Limb myoclonus1MT-TI CL E G H4565545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17488590045
HP:0001336HP:0010530Palatal myoclonus1MT-TI CL E G H4565545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17488590045
HP:0001336HP:0040148Cortical myoclonus1MT-TI CL E G H4565545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17488590045
HP:0001336HP:0010531Spinal myoclonus1MT-TI CL E G H4565545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17488590045
HP:0001336HP:0012462Chin myoclonus1MT-TI CL E G H4565545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17488590045
HP:0001336HP:0025097Eyelid myoclonus1MT-TI CL E G H4565545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17488590045
HP:0001336HP:0003739Myoclonic spasms1MT-TI CL E G H4565545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17488590045
HP:0001336HP:0012323Sleep myoclonus1MT-TI CL E G H4565545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17488590045
HP:0001336HP:0025357Erratic myoclonus1MT-TI CL E G H4565545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17488590045
HP:0001336HP:0010531Spinal myoclonus1MT-TK CL E G H4566545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17489590060
HP:0001336HP:0012462Chin myoclonus1MT-TK CL E G H4566545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17489590060
HP:0001336HP:0025097Eyelid myoclonus1MT-TK CL E G H4566545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17489590060
HP:0001336HP:0012323Sleep myoclonus1MT-TK CL E G H4566545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17489590060
HP:0001336HP:0025357Erratic myoclonus1MT-TK CL E G H4566545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17489590060
HP:0001336HP:0003739Myoclonic spasms1MT-TK CL E G H4566545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17489590060
HP:0001336HP:0031986Polyminimyoclonus1MT-TK CL E G H4566545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17489590060
HP:0001336HP:0007000Morning myoclonic jerks1MT-TK CL E G H4566545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17489590060
HP:0001336HP:0040148Cortical myoclonus1MT-TK CL E G H4566545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17489590060
HP:0001336HP:0045084Limb myoclonus1MT-TK CL E G H4566545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17489590060
HP:0001336HP:0010530Palatal myoclonus1MT-TK CL E G H4566545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17489590060
HP:0001336HP:0007000Morning myoclonic jerks1MT-TL1 CL E G H4567545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17490590050
HP:0001336HP:0031986Polyminimyoclonus1MT-TL1 CL E G H4567545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17490590050
HP:0001336HP:0040148Cortical myoclonus1MT-TL1 CL E G H4567545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17490590050
HP:0001336HP:0045084Limb myoclonus1MT-TL1 CL E G H4567545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17490590050
HP:0001336HP:0010530Palatal myoclonus1MT-TL1 CL E G H4567545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17490590050
HP:0001336HP:0012462Chin myoclonus1MT-TL1 CL E G H4567545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17490590050
HP:0001336HP:0025097Eyelid myoclonus1MT-TL1 CL E G H4567545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17490590050
HP:0001336HP:0010531Spinal myoclonus1MT-TL1 CL E G H4567545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17490590050
HP:0001336HP:0025357Erratic myoclonus1MT-TL1 CL E G H4567545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17490590050
HP:0001336HP:0003739Myoclonic spasms1MT-TL1 CL E G H4567545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17490590050
HP:0001336HP:0012323Sleep myoclonus1MT-TL1 CL E G H4567545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17490590050
HP:0001336HP:0012462Chin myoclonus1MT-TP CL E G H4571545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17494590075
HP:0001336HP:0025097Eyelid myoclonus1MT-TP CL E G H4571545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17494590075
HP:0001336HP:0010531Spinal myoclonus1MT-TP CL E G H4571545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17494590075
HP:0001336HP:0025357Erratic myoclonus1MT-TP CL E G H4571545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17494590075
HP:0001336HP:0003739Myoclonic spasms1MT-TP CL E G H4571545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17494590075
HP:0001336HP:0012323Sleep myoclonus1MT-TP CL E G H4571545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17494590075
HP:0001336HP:0007000Morning myoclonic jerks1MT-TP CL E G H4571545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17494590075
HP:0001336HP:0031986Polyminimyoclonus1MT-TP CL E G H4571545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17494590075
HP:0001336HP:0040148Cortical myoclonus1MT-TP CL E G H4571545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17494590075
HP:0001336HP:0045084Limb myoclonus1MT-TP CL E G H4571545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17494590075
HP:0001336HP:0010530Palatal myoclonus1MT-TP CL E G H4571545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17494590075
HP:0001336HP:0007000Morning myoclonic jerks1MTPAP CL E G H55149254343ORPHA134625532613669
HP:0001336HP:0031986Polyminimyoclonus1MTPAP CL E G H55149254343ORPHA134625532613669
HP:0001336HP:0040148Cortical myoclonus1MTPAP CL E G H55149254343ORPHA134625532613669
HP:0001336HP:0045084Limb myoclonus1MTPAP CL E G H55149254343ORPHA134625532613669
HP:0001336HP:0010530Palatal myoclonus1MTPAP CL E G H55149254343ORPHA134625532613669
HP:0001336HP:0012462Chin myoclonus1MTPAP CL E G H55149254343ORPHA134625532613669
HP:0001336HP:0025097Eyelid myoclonus1MTPAP CL E G H55149254343ORPHA134625532613669
HP:0001336HP:0010531Spinal myoclonus1MTPAP CL E G H55149254343ORPHA134625532613669
HP:0001336HP:0025357Erratic myoclonus1MTPAP CL E G H55149254343ORPHA134625532613669
HP:0001336HP:0003739Myoclonic spasms1MTPAP CL E G H55149254343ORPHA134625532613669
HP:0001336HP:0012323Sleep myoclonus1MTPAP CL E G H55149254343ORPHA134625532613669
HP:0001336HP:0007000Morning myoclonic jerks1NAGA CL E G H466879279ORPHA12307631104170
HP:0001336HP:0031986Polyminimyoclonus1NAGA CL E G H466879279ORPHA12307631104170
HP:0001336HP:0040148Cortical myoclonus1NAGA CL E G H466879279ORPHA12307631104170
HP:0001336HP:0045084Limb myoclonus1NAGA CL E G H466879279ORPHA12307631104170
HP:0001336HP:0010530Palatal myoclonus1NAGA CL E G H466879279ORPHA12307631104170
HP:0001336HP:0010531Spinal myoclonus1NAGA CL E G H466879279ORPHA12307631104170
HP:0001336HP:0012462Chin myoclonus1NAGA CL E G H466879279ORPHA12307631104170
HP:0001336HP:0025097Eyelid myoclonus1NAGA CL E G H466879279ORPHA12307631104170
HP:0001336HP:0012323Sleep myoclonus1NAGA CL E G H466879279ORPHA12307631104170
HP:0001336HP:0025357Erratic myoclonus1NAGA CL E G H466879279ORPHA12307631104170
HP:0001336HP:0003739Myoclonic spasms1NAGA CL E G H466879279ORPHA12307631104170
HP:0001336HP:0007000Morning myoclonic jerks1NAGA CL E G H4668609241Schindler disease, type 1609241C1836544OMIM12307631104170
HP:0001336HP:0031986Polyminimyoclonus1NAGA CL E G H4668609241Schindler disease, type 1609241C1836544OMIM12307631104170
HP:0001336HP:0045084Limb myoclonus1NAGA CL E G H4668609241Schindler disease, type 1609241C1836544OMIM12307631104170
HP:0001336HP:0010530Palatal myoclonus1NAGA CL E G H4668609241Schindler disease, type 1609241C1836544OMIM12307631104170
HP:0001336HP:0040148Cortical myoclonus1NAGA CL E G H4668609241Schindler disease, type 1609241C1836544OMIM12307631104170
HP:0001336HP:0025097Eyelid myoclonus1NAGA CL E G H4668609241Schindler disease, type 1609241C1836544OMIM12307631104170
HP:0001336HP:0010531Spinal myoclonus1NAGA CL E G H4668609241Schindler disease, type 1609241C1836544OMIM12307631104170
HP:0001336HP:0012462Chin myoclonus1NAGA CL E G H4668609241Schindler disease, type 1609241C1836544OMIM12307631104170
HP:0001336HP:0003739Myoclonic spasms1NAGA CL E G H4668609241Schindler disease, type 1609241C1836544OMIM12307631104170
HP:0001336HP:0012323Sleep myoclonus1NAGA CL E G H4668609241Schindler disease, type 1609241C1836544OMIM12307631104170
HP:0001336HP:0025357Erratic myoclonus1NAGA CL E G H4668609241Schindler disease, type 1609241C1836544OMIM12307631104170
HP:0001336HP:0040148Cortical myoclonus1NDUFAF3 CL E G H25915618240MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 18618240OMIM112329918612911
HP:0001336HP:0045084Limb myoclonus1NDUFAF3 CL E G H25915618240MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 18618240OMIM112329918612911
HP:0001336HP:0010530Palatal myoclonus1NDUFAF3 CL E G H25915618240MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 18618240OMIM112329918612911
HP:0001336HP:0012462Chin myoclonus1NDUFAF3 CL E G H25915618240MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 18618240OMIM112329918612911
HP:0001336HP:0025097Eyelid myoclonus1NDUFAF3 CL E G H25915618240MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 18618240OMIM112329918612911
HP:0001336HP:0010531Spinal myoclonus1NDUFAF3 CL E G H25915618240MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 18618240OMIM112329918612911
HP:0001336HP:0025357Erratic myoclonus1NDUFAF3 CL E G H25915618240MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 18618240OMIM112329918612911
HP:0001336HP:0003739Myoclonic spasms1NDUFAF3 CL E G H25915618240MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 18618240OMIM112329918612911
HP:0001336HP:0012323Sleep myoclonus1NDUFAF3 CL E G H25915618240MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 18618240OMIM112329918612911
HP:0001336HP:0007000Morning myoclonic jerks1NDUFAF3 CL E G H25915618240MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 18618240OMIM112329918612911
HP:0001336HP:0031986Polyminimyoclonus1NDUFAF3 CL E G H25915618240MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 18618240OMIM112329918612911
HP:0001336HP:0012323Sleep myoclonus1NDUFV1 CL E G H4723618225MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 4618225OMIM13157716161015
HP:0001336HP:0025357Erratic myoclonus1NDUFV1 CL E G H4723618225MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 4618225OMIM13157716161015
HP:0001336HP:0003739Myoclonic spasms1NDUFV1 CL E G H4723618225MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 4618225OMIM13157716161015
HP:0001336HP:0031986Polyminimyoclonus1NDUFV1 CL E G H4723618225MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 4618225OMIM13157716161015
HP:0001336HP:0007000Morning myoclonic jerks1NDUFV1 CL E G H4723618225MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 4618225OMIM13157716161015
HP:0001336HP:0010530Palatal myoclonus1NDUFV1 CL E G H4723618225MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 4618225OMIM13157716161015
HP:0001336HP:0040148Cortical myoclonus1NDUFV1 CL E G H4723618225MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 4618225OMIM13157716161015
HP:0001336HP:0045084Limb myoclonus1NDUFV1 CL E G H4723618225MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 4618225OMIM13157716161015
HP:0001336HP:0010531Spinal myoclonus1NDUFV1 CL E G H4723618225MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 4618225OMIM13157716161015
HP:0001336HP:0012462Chin myoclonus1NDUFV1 CL E G H4723618225MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 4618225OMIM13157716161015
HP:0001336HP:0025097Eyelid myoclonus1NDUFV1 CL E G H4723618225MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 4618225OMIM13157716161015
HP:0001336HP:0012323Sleep myoclonus1NEU1 CL E G H4758812ORPHA11857758608272
HP:0001336HP:0025357Erratic myoclonus1NEU1 CL E G H4758812ORPHA11857758608272
HP:0001336HP:0003739Myoclonic spasms1NEU1 CL E G H4758812ORPHA11857758608272
HP:0001336HP:0031986Polyminimyoclonus1NEU1 CL E G H4758812ORPHA11857758608272
HP:0001336HP:0007000Morning myoclonic jerks1NEU1 CL E G H4758812ORPHA11857758608272
HP:0001336HP:0010530Palatal myoclonus1NEU1 CL E G H4758812ORPHA11857758608272
HP:0001336HP:0040148Cortical myoclonus1NEU1 CL E G H4758812ORPHA11857758608272
HP:0001336HP:0045084Limb myoclonus1NEU1 CL E G H4758812ORPHA11857758608272
HP:0001336HP:0010531Spinal myoclonus1NEU1 CL E G H4758812ORPHA11857758608272
HP:0001336HP:0012462Chin myoclonus1NEU1 CL E G H4758812ORPHA11857758608272
HP:0001336HP:0025097Eyelid myoclonus1NEU1 CL E G H4758812ORPHA11857758608272
HP:0001336HP:0012462Chin myoclonus1NEU1 CL E G H4758256550Sialidosis, type II256550C0268226OMIM11857758608272
HP:0001336HP:0025097Eyelid myoclonus1NEU1 CL E G H4758256550Sialidosis, type II256550C0268226OMIM11857758608272
HP:0001336HP:0010531Spinal myoclonus1NEU1 CL E G H4758256550Sialidosis, type II256550C0268226OMIM11857758608272
HP:0001336HP:0025357Erratic myoclonus1NEU1 CL E G H4758256550Sialidosis, type II256550C0268226OMIM11857758608272
HP:0001336HP:0003739Myoclonic spasms1NEU1 CL E G H4758256550Sialidosis, type II256550C0268226OMIM11857758608272
HP:0001336HP:0012323Sleep myoclonus1NEU1 CL E G H4758256550Sialidosis, type II256550C0268226OMIM11857758608272
HP:0001336HP:0007000Morning myoclonic jerks1NEU1 CL E G H4758256550Sialidosis, type II256550C0268226OMIM11857758608272
HP:0001336HP:0031986Polyminimyoclonus1NEU1 CL E G H4758256550Sialidosis, type II256550C0268226OMIM11857758608272
HP:0001336HP:0040148Cortical myoclonus1NEU1 CL E G H4758256550Sialidosis, type II256550C0268226OMIM11857758608272
HP:0001336HP:0045084Limb myoclonus1NEU1 CL E G H4758256550Sialidosis, type II256550C0268226OMIM11857758608272
HP:0001336HP:0010530Palatal myoclonus1NEU1 CL E G H4758256550Sialidosis, type II256550C0268226OMIM11857758608272
HP:0001336HP:0010531Spinal myoclonus1NGLY1 CL E G H55768615273Congenital disorder of deglycosylation615273C3808991OMIM165617646610661
HP:0001336HP:0012462Chin myoclonus1NGLY1 CL E G H55768615273Congenital disorder of deglycosylation615273C3808991OMIM165617646610661
HP:0001336HP:0025097Eyelid myoclonus1NGLY1 CL E G H55768615273Congenital disorder of deglycosylation615273C3808991OMIM165617646610661
HP:0001336HP:0003739Myoclonic spasms1NGLY1 CL E G H55768615273Congenital disorder of deglycosylation615273C3808991OMIM165617646610661
HP:0001336HP:0012323Sleep myoclonus1NGLY1 CL E G H55768615273Congenital disorder of deglycosylation615273C3808991OMIM165617646610661
HP:0001336HP:0025357Erratic myoclonus1NGLY1 CL E G H55768615273Congenital disorder of deglycosylation615273C3808991OMIM165617646610661
HP:0001336HP:0007000Morning myoclonic jerks1NGLY1 CL E G H55768615273Congenital disorder of deglycosylation615273C3808991OMIM165617646610661
HP:0001336HP:0031986Polyminimyoclonus1NGLY1 CL E G H55768615273Congenital disorder of deglycosylation615273C3808991OMIM165617646610661
HP:0001336HP:0045084Limb myoclonus1NGLY1 CL E G H55768615273Congenital disorder of deglycosylation615273C3808991OMIM165617646610661
HP:0001336HP:0010530Palatal myoclonus1NGLY1 CL E G H55768615273Congenital disorder of deglycosylation615273C3808991OMIM165617646610661
HP:0001336HP:0040148Cortical myoclonus1NGLY1 CL E G H55768615273Congenital disorder of deglycosylation615273C3808991OMIM165617646610661
HP:0001336HP:0007000Morning myoclonic jerks1NHLRC1 CL E G H378884254780Lafora disease254780C0751783OMIM135121576608072
HP:0001336HP:0031986Polyminimyoclonus1NHLRC1 CL E G H378884254780Lafora disease254780C0751783OMIM135121576608072
HP:0001336HP:0040148Cortical myoclonus1NHLRC1 CL E G H378884254780Lafora disease254780C0751783OMIM135121576608072
HP:0001336HP:0045084Limb myoclonus1NHLRC1 CL E G H378884254780Lafora disease254780C0751783OMIM135121576608072
HP:0001336HP:0010530Palatal myoclonus1NHLRC1 CL E G H378884254780Lafora disease254780C0751783OMIM135121576608072
HP:0001336HP:0025097Eyelid myoclonus1NHLRC1 CL E G H378884254780Lafora disease254780C0751783OMIM135121576608072
HP:0001336HP:0010531Spinal myoclonus1NHLRC1 CL E G H378884254780Lafora disease254780C0751783OMIM135121576608072
HP:0001336HP:0012462Chin myoclonus1NHLRC1 CL E G H378884254780Lafora disease254780C0751783OMIM135121576608072
HP:0001336HP:0025357Erratic myoclonus1NHLRC1 CL E G H378884254780Lafora disease254780C0751783OMIM135121576608072
HP:0001336HP:0003739Myoclonic spasms1NHLRC1 CL E G H378884254780Lafora disease254780C0751783OMIM135121576608072
HP:0001336HP:0012323Sleep myoclonus1NHLRC1 CL E G H378884254780Lafora disease254780C0751783OMIM135121576608072
HP:0001336HP:0007000Morning myoclonic jerks1NME1 CL E G H4830256700Neuroblastoma256700C0027819OMIM1167849156490
HP:0001336HP:0031986Polyminimyoclonus1NME1 CL E G H4830256700Neuroblastoma256700C0027819OMIM1167849156490
HP:0001336HP:0040148Cortical myoclonus1NME1 CL E G H4830256700Neuroblastoma256700C0027819OMIM1167849156490
HP:0001336HP:0045084Limb myoclonus1NME1 CL E G H4830256700Neuroblastoma256700C0027819OMIM1167849156490
HP:0001336HP:0010530Palatal myoclonus1NME1 CL E G H4830256700Neuroblastoma256700C0027819OMIM1167849156490
HP:0001336HP:0025097Eyelid myoclonus1NME1 CL E G H4830256700Neuroblastoma256700C0027819OMIM1167849156490
HP:0001336HP:0010531Spinal myoclonus1NME1 CL E G H4830256700Neuroblastoma256700C0027819OMIM1167849156490
HP:0001336HP:0012462Chin myoclonus1NME1 CL E G H4830256700Neuroblastoma256700C0027819OMIM1167849156490
HP:0001336HP:0025357Erratic myoclonus1NME1 CL E G H4830256700Neuroblastoma256700C0027819OMIM1167849156490
HP:0001336HP:0003739Myoclonic spasms1NME1 CL E G H4830256700Neuroblastoma256700C0027819OMIM1167849156490
HP:0001336HP:0012323Sleep myoclonus1NME1 CL E G H4830256700Neuroblastoma256700C0027819OMIM1167849156490
HP:0001336HP:0031986Polyminimyoclonus1NOL3 CL E G H8996614937Myoclonus, familial cortical614937C3539916OMIM1577869605235
HP:0001336HP:0007000Morning myoclonic jerks1NOL3 CL E G H8996614937Myoclonus, familial cortical614937C3539916OMIM1577869605235
HP:0001336HP:0040148Cortical myoclonus1NOL3 CL E G H8996614937Myoclonus, familial cortical614937C3539916OMIM1577869605235
HP:0001336HP:0045084Limb myoclonus1NOL3 CL E G H8996614937Myoclonus, familial cortical614937C3539916OMIM1577869605235
HP:0001336HP:0010530Palatal myoclonus1NOL3 CL E G H8996614937Myoclonus, familial cortical614937C3539916OMIM1577869605235
HP:0001336HP:0010531Spinal myoclonus1NOL3 CL E G H8996614937Myoclonus, familial cortical614937C3539916OMIM1577869605235
HP:0001336HP:0012462Chin myoclonus1NOL3 CL E G H8996614937Myoclonus, familial cortical614937C3539916OMIM1577869605235
HP:0001336HP:0025097Eyelid myoclonus1NOL3 CL E G H8996614937Myoclonus, familial cortical614937C3539916OMIM1577869605235
HP:0001336HP:0012323Sleep myoclonus1NOL3 CL E G H8996614937Myoclonus, familial cortical614937C3539916OMIM1577869605235
HP:0001336HP:0025357Erratic myoclonus1NOL3 CL E G H8996614937Myoclonus, familial cortical614937C3539916OMIM1577869605235
HP:0001336HP:0003739Myoclonic spasms1NOL3 CL E G H8996614937Myoclonus, familial cortical614937C3539916OMIM1577869605235
HP:0001336HP:0012462Chin myoclonus1NTRK2 CL E G H49153451Meier Blumberg Imahorn syndromeORPHA15098032600456
HP:0001336HP:0025097Eyelid myoclonus1NTRK2 CL E G H49153451Meier Blumberg Imahorn syndromeORPHA15098032600456
HP:0001336HP:0010531Spinal myoclonus1NTRK2 CL E G H49153451Meier Blumberg Imahorn syndromeORPHA15098032600456
HP:0001336HP:0025357Erratic myoclonus1NTRK2 CL E G H49153451Meier Blumberg Imahorn syndromeORPHA15098032600456
HP:0001336HP:0003739Myoclonic spasms1NTRK2 CL E G H49153451Meier Blumberg Imahorn syndromeORPHA15098032600456
HP:0001336HP:0012323Sleep myoclonus1NTRK2 CL E G H49153451Meier Blumberg Imahorn syndromeORPHA15098032600456
HP:0001336HP:0007000Morning myoclonic jerks1NTRK2 CL E G H49153451Meier Blumberg Imahorn syndromeORPHA15098032600456
HP:0001336HP:0031986Polyminimyoclonus1NTRK2 CL E G H49153451Meier Blumberg Imahorn syndromeORPHA15098032600456
HP:0001336HP:0040148Cortical myoclonus1NTRK2 CL E G H49153451Meier Blumberg Imahorn syndromeORPHA15098032600456
HP:0001336HP:0045084Limb myoclonus1NTRK2 CL E G H49153451Meier Blumberg Imahorn syndromeORPHA15098032600456
HP:0001336HP:0010530Palatal myoclonus1NTRK2 CL E G H49153451Meier Blumberg Imahorn syndromeORPHA15098032600456
HP:0001336HP:0007000Morning myoclonic jerks1PHACTR1 CL E G H2216923451Meier Blumberg Imahorn syndromeORPHA19720990608723
HP:0001336HP:0031986Polyminimyoclonus1PHACTR1 CL E G H2216923451Meier Blumberg Imahorn syndromeORPHA19720990608723
HP:0001336HP:0045084Limb myoclonus1PHACTR1 CL E G H2216923451Meier Blumberg Imahorn syndromeORPHA19720990608723
HP:0001336HP:0010530Palatal myoclonus1PHACTR1 CL E G H2216923451Meier Blumberg Imahorn syndromeORPHA19720990608723
HP:0001336HP:0040148Cortical myoclonus1PHACTR1 CL E G H2216923451Meier Blumberg Imahorn syndromeORPHA19720990608723
HP:0001336HP:0025097Eyelid myoclonus1PHACTR1 CL E G H2216923451Meier Blumberg Imahorn syndromeORPHA19720990608723
HP:0001336HP:0010531Spinal myoclonus1PHACTR1 CL E G H2216923451Meier Blumberg Imahorn syndromeORPHA19720990608723
HP:0001336HP:0012462Chin myoclonus1PHACTR1 CL E G H2216923451Meier Blumberg Imahorn syndromeORPHA19720990608723
HP:0001336HP:0025357Erratic myoclonus1PHACTR1 CL E G H2216923451Meier Blumberg Imahorn syndromeORPHA19720990608723
HP:0001336HP:0003739Myoclonic spasms1PHACTR1 CL E G H2216923451Meier Blumberg Imahorn syndromeORPHA19720990608723
HP:0001336HP:0012323Sleep myoclonus1PHACTR1 CL E G H2216923451Meier Blumberg Imahorn syndromeORPHA19720990608723
HP:0001336HP:0010531Spinal myoclonus1PIGA CL E G H52773451Meier Blumberg Imahorn syndromeORPHA14838957311770
HP:0001336HP:0012462Chin myoclonus1PIGA CL E G H52773451Meier Blumberg Imahorn syndromeORPHA14838957311770
HP:0001336HP:0025097Eyelid myoclonus1PIGA CL E G H52773451Meier Blumberg Imahorn syndromeORPHA14838957311770
HP:0001336HP:0003739Myoclonic spasms1PIGA CL E G H52773451Meier Blumberg Imahorn syndromeORPHA14838957311770
HP:0001336HP:0012323Sleep myoclonus1PIGA CL E G H52773451Meier Blumberg Imahorn syndromeORPHA14838957311770
HP:0001336HP:0025357Erratic myoclonus1PIGA CL E G H52773451Meier Blumberg Imahorn syndromeORPHA14838957311770
HP:0001336HP:0007000Morning myoclonic jerks1PIGA CL E G H52773451Meier Blumberg Imahorn syndromeORPHA14838957311770
HP:0001336HP:0031986Polyminimyoclonus1PIGA CL E G H52773451Meier Blumberg Imahorn syndromeORPHA14838957311770
HP:0001336HP:0010530Palatal myoclonus1PIGA CL E G H52773451Meier Blumberg Imahorn syndromeORPHA14838957311770
HP:0001336HP:0040148Cortical myoclonus1PIGA CL E G H52773451Meier Blumberg Imahorn syndromeORPHA14838957311770
HP:0001336HP:0045084Limb myoclonus1PIGA CL E G H52773451Meier Blumberg Imahorn syndromeORPHA14838957311770
HP:0001336HP:0007000Morning myoclonic jerks1PLCB1 CL E G H232363451Meier Blumberg Imahorn syndromeORPHA1110715917607120
HP:0001336HP:0031986Polyminimyoclonus1PLCB1 CL E G H232363451Meier Blumberg Imahorn syndromeORPHA1110715917607120
HP:0001336HP:0040148Cortical myoclonus1PLCB1 CL E G H232363451Meier Blumberg Imahorn syndromeORPHA1110715917607120
HP:0001336HP:0045084Limb myoclonus1PLCB1 CL E G H232363451Meier Blumberg Imahorn syndromeORPHA1110715917607120
HP:0001336HP:0010530Palatal myoclonus1PLCB1 CL E G H232363451Meier Blumberg Imahorn syndromeORPHA1110715917607120
HP:0001336HP:0010531Spinal myoclonus1PLCB1 CL E G H232363451Meier Blumberg Imahorn syndromeORPHA1110715917607120
HP:0001336HP:0012462Chin myoclonus1PLCB1 CL E G H232363451Meier Blumberg Imahorn syndromeORPHA1110715917607120
HP:0001336HP:0025097Eyelid myoclonus1PLCB1 CL E G H232363451Meier Blumberg Imahorn syndromeORPHA1110715917607120
HP:0001336HP:0012323Sleep myoclonus1PLCB1 CL E G H232363451Meier Blumberg Imahorn syndromeORPHA1110715917607120
HP:0001336HP:0025357Erratic myoclonus1PLCB1 CL E G H232363451Meier Blumberg Imahorn syndromeORPHA1110715917607120
HP:0001336HP:0003739Myoclonic spasms1PLCB1 CL E G H232363451Meier Blumberg Imahorn syndromeORPHA1110715917607120
HP:0001336HP:0025357Erratic myoclonus1PLPBP CL E G H11212617290Epilepsy, early-onset, vitamin b6-dependent617290C4310632OMIM12429457604436
HP:0001336HP:0003739Myoclonic spasms1PLPBP CL E G H11212617290Epilepsy, early-onset, vitamin b6-dependent617290C4310632OMIM12429457604436
HP:0001336HP:0012323Sleep myoclonus1PLPBP CL E G H11212617290Epilepsy, early-onset, vitamin b6-dependent617290C4310632OMIM12429457604436
HP:0001336HP:0007000Morning myoclonic jerks1PLPBP CL E G H11212617290Epilepsy, early-onset, vitamin b6-dependent617290C4310632OMIM12429457604436
HP:0001336HP:0031986Polyminimyoclonus1PLPBP CL E G H11212617290Epilepsy, early-onset, vitamin b6-dependent617290C4310632OMIM12429457604436
HP:0001336HP:0040148Cortical myoclonus1PLPBP CL E G H11212617290Epilepsy, early-onset, vitamin b6-dependent617290C4310632OMIM12429457604436
HP:0001336HP:0045084Limb myoclonus1PLPBP CL E G H11212617290Epilepsy, early-onset, vitamin b6-dependent617290C4310632OMIM12429457604436
HP:0001336HP:0010530Palatal myoclonus1PLPBP CL E G H11212617290Epilepsy, early-onset, vitamin b6-dependent617290C4310632OMIM12429457604436
HP:0001336HP:0012462Chin myoclonus1PLPBP CL E G H11212617290Epilepsy, early-onset, vitamin b6-dependent617290C4310632OMIM12429457604436
HP:0001336HP:0025097Eyelid myoclonus1PLPBP CL E G H11212617290Epilepsy, early-onset, vitamin b6-dependent617290C4310632OMIM12429457604436
HP:0001336HP:0010531Spinal myoclonus1PLPBP CL E G H11212617290Epilepsy, early-onset, vitamin b6-dependent617290C4310632OMIM12429457604436
HP:0001336HP:0010531Spinal myoclonus1PNPO CL E G H5516379096ORPHA131730260603287
HP:0001336HP:0012462Chin myoclonus1PNPO CL E G H5516379096ORPHA131730260603287
HP:0001336HP:0025097Eyelid myoclonus1PNPO CL E G H5516379096ORPHA131730260603287
HP:0001336HP:0003739Myoclonic spasms1PNPO CL E G H5516379096ORPHA131730260603287
HP:0001336HP:0012323Sleep myoclonus1PNPO CL E G H5516379096ORPHA131730260603287
HP:0001336HP:0025357Erratic myoclonus1PNPO CL E G H5516379096ORPHA131730260603287
HP:0001336HP:0007000Morning myoclonic jerks1PNPO CL E G H5516379096ORPHA131730260603287
HP:0001336HP:0031986Polyminimyoclonus1PNPO CL E G H5516379096ORPHA131730260603287
HP:0001336HP:0010530Palatal myoclonus1PNPO CL E G H5516379096ORPHA131730260603287
HP:0001336HP:0040148Cortical myoclonus1PNPO CL E G H5516379096ORPHA131730260603287
HP:0001336HP:0045084Limb myoclonus1PNPO CL E G H5516379096ORPHA131730260603287
HP:0001336HP:0010531Spinal myoclonus1PNPO CL E G H55163610090Pyridoxal 5'-phosphate-dependent epilepsy610090C1864723OMIM131730260603287
HP:0001336HP:0012462Chin myoclonus1PNPO CL E G H55163610090Pyridoxal 5'-phosphate-dependent epilepsy610090C1864723OMIM131730260603287
HP:0001336HP:0025097Eyelid myoclonus1PNPO CL E G H55163610090Pyridoxal 5'-phosphate-dependent epilepsy610090C1864723OMIM131730260603287
HP:0001336HP:0012323Sleep myoclonus1PNPO CL E G H55163610090Pyridoxal 5'-phosphate-dependent epilepsy610090C1864723OMIM131730260603287
HP:0001336HP:0025357Erratic myoclonus1PNPO CL E G H55163610090Pyridoxal 5'-phosphate-dependent epilepsy610090C1864723OMIM131730260603287
HP:0001336HP:0003739Myoclonic spasms1PNPO CL E G H55163610090Pyridoxal 5'-phosphate-dependent epilepsy610090C1864723OMIM131730260603287
HP:0001336HP:0031986Polyminimyoclonus1PNPO CL E G H55163610090Pyridoxal 5'-phosphate-dependent epilepsy610090C1864723OMIM131730260603287
HP:0001336HP:0007000Morning myoclonic jerks1PNPO CL E G H55163610090Pyridoxal 5'-phosphate-dependent epilepsy610090C1864723OMIM131730260603287
HP:0001336HP:0010530Palatal myoclonus1PNPO CL E G H55163610090Pyridoxal 5'-phosphate-dependent epilepsy610090C1864723OMIM131730260603287
HP:0001336HP:0040148Cortical myoclonus1PNPO CL E G H55163610090Pyridoxal 5'-phosphate-dependent epilepsy610090C1864723OMIM131730260603287
HP:0001336HP:0045084Limb myoclonus1PNPO CL E G H55163610090Pyridoxal 5'-phosphate-dependent epilepsy610090C1864723OMIM131730260603287
HP:0001336HP:0007000Morning myoclonic jerks1POLG CL E G H542870595ORPHA123249179174763
HP:0001336HP:0031986Polyminimyoclonus1POLG CL E G H542870595ORPHA123249179174763
HP:0001336HP:0045084Limb myoclonus1POLG CL E G H5428726ORPHA123249179174763
HP:0001336HP:0010530Palatal myoclonus1POLG CL E G H5428726ORPHA123249179174763
HP:0001336HP:0040148Cortical myoclonus1POLG CL E G H5428726ORPHA123249179174763
HP:0001336HP:0040148Cortical myoclonus1POLG CL E G H542870595ORPHA123249179174763
HP:0001336HP:0045084Limb myoclonus1POLG CL E G H542870595ORPHA123249179174763
HP:0001336HP:0010530Palatal myoclonus1POLG CL E G H542870595ORPHA123249179174763
HP:0001336HP:0025097Eyelid myoclonus1POLG CL E G H5428726ORPHA123249179174763
HP:0001336HP:0010531Spinal myoclonus1POLG CL E G H5428726ORPHA123249179174763
HP:0001336HP:0012462Chin myoclonus1POLG CL E G H5428726ORPHA123249179174763
HP:0001336HP:0010531Spinal myoclonus1POLG CL E G H542870595ORPHA123249179174763
HP:0001336HP:0012462Chin myoclonus1POLG CL E G H542870595ORPHA123249179174763
HP:0001336HP:0025097Eyelid myoclonus1POLG CL E G H542870595ORPHA123249179174763
HP:0001336HP:0025357Erratic myoclonus1POLG CL E G H5428726ORPHA123249179174763
HP:0001336HP:0003739Myoclonic spasms1POLG CL E G H5428726ORPHA123249179174763
HP:0001336HP:0012323Sleep myoclonus1POLG CL E G H5428726ORPHA123249179174763
HP:0001336HP:0012323Sleep myoclonus1POLG CL E G H542870595ORPHA123249179174763
HP:0001336HP:0025357Erratic myoclonus1POLG CL E G H542870595ORPHA123249179174763
HP:0001336HP:0003739Myoclonic spasms1POLG CL E G H542870595ORPHA123249179174763
HP:0001336HP:0007000Morning myoclonic jerks1POLG CL E G H5428726ORPHA123249179174763
HP:0001336HP:0031986Polyminimyoclonus1POLG CL E G H5428726ORPHA123249179174763
HP:0001336HP:0007000Morning myoclonic jerks1POLG CL E G H5428203700Progressive sclerosing poliodystrophy203700C0205710OMIM123249179174763
HP:0001336HP:0031986Polyminimyoclonus1POLG CL E G H5428203700Progressive sclerosing poliodystrophy203700C0205710OMIM123249179174763
HP:0001336HP:0040148Cortical myoclonus1POLG CL E G H5428203700Progressive sclerosing poliodystrophy203700C0205710OMIM123249179174763
HP:0001336HP:0045084Limb myoclonus1POLG CL E G H5428203700Progressive sclerosing poliodystrophy203700C0205710OMIM123249179174763
HP:0001336HP:0010530Palatal myoclonus1POLG CL E G H5428203700Progressive sclerosing poliodystrophy203700C0205710OMIM123249179174763
HP:0001336HP:0025097Eyelid myoclonus1POLG CL E G H5428203700Progressive sclerosing poliodystrophy203700C0205710OMIM123249179174763
HP:0001336HP:0010531Spinal myoclonus1POLG CL E G H5428203700Progressive sclerosing poliodystrophy203700C0205710OMIM123249179174763
HP:0001336HP:0012462Chin myoclonus1POLG CL E G H5428203700Progressive sclerosing poliodystrophy203700C0205710OMIM123249179174763
HP:0001336HP:0025357Erratic myoclonus1POLG CL E G H5428203700Progressive sclerosing poliodystrophy203700C0205710OMIM123249179174763
HP:0001336HP:0003739Myoclonic spasms1POLG CL E G H5428203700Progressive sclerosing poliodystrophy203700C0205710OMIM123249179174763
HP:0001336HP:0012323Sleep myoclonus1POLG CL E G H5428203700Progressive sclerosing poliodystrophy203700C0205710OMIM123249179174763
HP:0001336HP:0007000Morning myoclonic jerks1POLG CL E G H5428607459Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis607459C1843851OMIM123249179174763
HP:0001336HP:0031986Polyminimyoclonus1POLG CL E G H5428607459Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis607459C1843851OMIM123249179174763
HP:0001336HP:0040148Cortical myoclonus1POLG CL E G H5428607459Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis607459C1843851OMIM123249179174763
HP:0001336HP:0045084Limb myoclonus1POLG CL E G H5428607459Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis607459C1843851OMIM123249179174763
HP:0001336HP:0010530Palatal myoclonus1POLG CL E G H5428607459Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis607459C1843851OMIM123249179174763
HP:0001336HP:0012462Chin myoclonus1POLG CL E G H5428607459Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis607459C1843851OMIM123249179174763
HP:0001336HP:0025097Eyelid myoclonus1POLG CL E G H5428607459Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis607459C1843851OMIM123249179174763
HP:0001336HP:0010531Spinal myoclonus1POLG CL E G H5428607459Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis607459C1843851OMIM123249179174763
HP:0001336HP:0025357Erratic myoclonus1POLG CL E G H5428607459Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis607459C1843851OMIM123249179174763
HP:0001336HP:0003739Myoclonic spasms1POLG CL E G H5428607459Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis607459C1843851OMIM123249179174763
HP:0001336HP:0012323Sleep myoclonus1POLG CL E G H5428607459Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis607459C1843851OMIM123249179174763
HP:0001336HP:0031986Polyminimyoclonus1POMGNT1 CL E G H55624253280Muscle eye brain disease253280C0457133OMIM1117419139606822
HP:0001336HP:0007000Morning myoclonic jerks1POMGNT1 CL E G H55624253280Muscle eye brain disease253280C0457133OMIM1117419139606822
HP:0001336HP:0040148Cortical myoclonus1POMGNT1 CL E G H55624253280Muscle eye brain disease253280C0457133OMIM1117419139606822
HP:0001336HP:0045084Limb myoclonus1POMGNT1 CL E G H55624253280Muscle eye brain disease253280C0457133OMIM1117419139606822
HP:0001336HP:0010530Palatal myoclonus1POMGNT1 CL E G H55624253280Muscle eye brain disease253280C0457133OMIM1117419139606822
HP:0001336HP:0010531Spinal myoclonus1POMGNT1 CL E G H55624253280Muscle eye brain disease253280C0457133OMIM1117419139606822
HP:0001336HP:0012462Chin myoclonus1POMGNT1 CL E G H55624253280Muscle eye brain disease253280C0457133OMIM1117419139606822
HP:0001336HP:0025097Eyelid myoclonus1POMGNT1 CL E G H55624253280Muscle eye brain disease253280C0457133OMIM1117419139606822
HP:0001336HP:0012323Sleep myoclonus1POMGNT1 CL E G H55624253280Muscle eye brain disease253280C0457133OMIM1117419139606822
HP:0001336HP:0025357Erratic myoclonus1POMGNT1 CL E G H55624253280Muscle eye brain disease253280C0457133OMIM1117419139606822
HP:0001336HP:0003739Myoclonic spasms1POMGNT1 CL E G H55624253280Muscle eye brain disease253280C0457133OMIM1117419139606822
HP:0001336HP:0010531Spinal myoclonus1PPT1 CL E G H5538256730Ceroid lipofuscinosis neuronal 1256730C1850451OMIM16179325600722
HP:0001336HP:0012462Chin myoclonus1PPT1 CL E G H5538256730Ceroid lipofuscinosis neuronal 1256730C1850451OMIM16179325600722
HP:0001336HP:0025097Eyelid myoclonus1PPT1 CL E G H5538256730Ceroid lipofuscinosis neuronal 1256730C1850451OMIM16179325600722
HP:0001336HP:0003739Myoclonic spasms1PPT1 CL E G H5538256730Ceroid lipofuscinosis neuronal 1256730C1850451OMIM16179325600722
HP:0001336HP:0012323Sleep myoclonus1PPT1 CL E G H5538256730Ceroid lipofuscinosis neuronal 1256730C1850451OMIM16179325600722
HP:0001336HP:0025357Erratic myoclonus1PPT1 CL E G H5538256730Ceroid lipofuscinosis neuronal 1256730C1850451OMIM16179325600722
HP:0001336HP:0007000Morning myoclonic jerks1PPT1 CL E G H5538256730Ceroid lipofuscinosis neuronal 1256730C1850451OMIM16179325600722
HP:0001336HP:0031986Polyminimyoclonus1PPT1 CL E G H5538256730Ceroid lipofuscinosis neuronal 1256730C1850451OMIM16179325600722
HP:0001336HP:0045084Limb myoclonus1PPT1 CL E G H5538256730Ceroid lipofuscinosis neuronal 1256730C1850451OMIM16179325600722
HP:0001336HP:0010530Palatal myoclonus1PPT1 CL E G H5538256730Ceroid lipofuscinosis neuronal 1256730C1850451OMIM16179325600722
HP:0001336HP:0040148Cortical myoclonus1PPT1 CL E G H5538256730Ceroid lipofuscinosis neuronal 1256730C1850451OMIM16179325600722
HP:0001336HP:0031986Polyminimyoclonus1PRDM8 CL E G H56978324290ORPHA143913993616639
HP:0001336HP:0007000Morning myoclonic jerks1PRDM8 CL E G H56978324290ORPHA143913993616639
HP:0001336HP:0010530Palatal myoclonus1PRDM8 CL E G H56978324290ORPHA143913993616639
HP:0001336HP:0040148Cortical myoclonus1PRDM8 CL E G H56978324290ORPHA143913993616639
HP:0001336HP:0045084Limb myoclonus1PRDM8 CL E G H56978324290ORPHA143913993616639
HP:0001336HP:0010531Spinal myoclonus1PRDM8 CL E G H56978324290ORPHA143913993616639
HP:0001336HP:0012462Chin myoclonus1PRDM8 CL E G H56978324290ORPHA143913993616639
HP:0001336HP:0025097Eyelid myoclonus1PRDM8 CL E G H56978324290ORPHA143913993616639
HP:0001336HP:0012323Sleep myoclonus1PRDM8 CL E G H56978324290ORPHA143913993616639
HP:0001336HP:0025357Erratic myoclonus1PRDM8 CL E G H56978324290ORPHA143913993616639
HP:0001336HP:0003739Myoclonic spasms1PRDM8 CL E G H56978324290ORPHA143913993616639
HP:0001336HP:0007000Morning myoclonic jerks1PRDM8 CL E G H56978616640Epilepsy, progressive myoclonic, 10616640C4225258OMIM143913993616639
HP:0001336HP:0031986Polyminimyoclonus1PRDM8 CL E G H56978616640Epilepsy, progressive myoclonic, 10616640C4225258OMIM143913993616639
HP:0001336HP:0040148Cortical myoclonus1PRDM8 CL E G H56978616640Epilepsy, progressive myoclonic, 10616640C4225258OMIM143913993616639
HP:0001336HP:0045084Limb myoclonus1PRDM8 CL E G H56978616640Epilepsy, progressive myoclonic, 10616640C4225258OMIM143913993616639
HP:0001336HP:0010530Palatal myoclonus1PRDM8 CL E G H56978616640Epilepsy, progressive myoclonic, 10616640C4225258OMIM143913993616639
HP:0001336HP:0012462Chin myoclonus1PRDM8 CL E G H56978616640Epilepsy, progressive myoclonic, 10616640C4225258OMIM143913993616639
HP:0001336HP:0025097Eyelid myoclonus1PRDM8 CL E G H56978616640Epilepsy, progressive myoclonic, 10616640C4225258OMIM143913993616639
HP:0001336HP:0010531Spinal myoclonus1PRDM8 CL E G H56978616640Epilepsy, progressive myoclonic, 10616640C4225258OMIM143913993616639
HP:0001336HP:0025357Erratic myoclonus1PRDM8 CL E G H56978616640Epilepsy, progressive myoclonic, 10616640C4225258OMIM143913993616639
HP:0001336HP:0003739Myoclonic spasms1PRDM8 CL E G H56978616640Epilepsy, progressive myoclonic, 10616640C4225258OMIM143913993616639
HP:0001336HP:0012323Sleep myoclonus1PRDM8 CL E G H56978616640Epilepsy, progressive myoclonic, 10616640C4225258OMIM143913993616639
HP:0001336HP:0010531Spinal myoclonus1PRNP CL E G H5621282166ORPHA11919449176640
HP:0001336HP:0012462Chin myoclonus1PRNP CL E G H5621282166ORPHA11919449176640
HP:0001336HP:0025097Eyelid myoclonus1PRNP CL E G H5621282166ORPHA11919449176640
HP:0001336HP:0003739Myoclonic spasms1PRNP CL E G H5621282166ORPHA11919449176640
HP:0001336HP:0012323Sleep myoclonus1PRNP CL E G H5621282166ORPHA11919449176640
HP:0001336HP:0025357Erratic myoclonus1PRNP CL E G H5621282166ORPHA11919449176640
HP:0001336HP:0007000Morning myoclonic jerks1PRNP CL E G H5621282166ORPHA11919449176640
HP:0001336HP:0031986Polyminimyoclonus1PRNP CL E G H5621282166ORPHA11919449176640
HP:0001336HP:0045084Limb myoclonus1PRNP CL E G H5621282166ORPHA11919449176640
HP:0001336HP:0010530Palatal myoclonus1PRNP CL E G H5621282166ORPHA11919449176640
HP:0001336HP:0040148Cortical myoclonus1PRNP CL E G H5621282166ORPHA11919449176640
HP:0001336HP:0007000Morning myoclonic jerks1PRNP CL E G H5621600072Fatal familial insomnia600072C0206042OMIM11919449176640
HP:0001336HP:0031986Polyminimyoclonus1PRNP CL E G H5621600072Fatal familial insomnia600072C0206042OMIM11919449176640
HP:0001336HP:0045084Limb myoclonus1PRNP CL E G H5621600072Fatal familial insomnia600072C0206042OMIM11919449176640
HP:0001336HP:0010530Palatal myoclonus1PRNP CL E G H5621600072Fatal familial insomnia600072C0206042OMIM11919449176640
HP:0001336HP:0040148Cortical myoclonus1PRNP CL E G H5621600072Fatal familial insomnia600072C0206042OMIM11919449176640
HP:0001336HP:0010531Spinal myoclonus1PRNP CL E G H5621600072Fatal familial insomnia600072C0206042OMIM11919449176640
HP:0001336HP:0012462Chin myoclonus1PRNP CL E G H5621600072Fatal familial insomnia600072C0206042OMIM11919449176640
HP:0001336HP:0025097Eyelid myoclonus1PRNP CL E G H5621600072Fatal familial insomnia600072C0206042OMIM11919449176640
HP:0001336HP:0003739Myoclonic spasms1PRNP CL E G H5621600072Fatal familial insomnia600072C0206042OMIM11919449176640
HP:0001336HP:0012323Sleep myoclonus1PRNP CL E G H5621600072Fatal familial insomnia600072C0206042OMIM11919449176640
HP:0001336HP:0025357Erratic myoclonus1PRNP CL E G H5621600072Fatal familial insomnia600072C0206042OMIM11919449176640
HP:0001336HP:0007000Morning myoclonic jerks1PRNP CL E G H5621137440Gerstmann-Straussler-Scheinker syndrome137440C0017495OMIM11919449176640
HP:0001336HP:0031986Polyminimyoclonus1PRNP CL E G H5621137440Gerstmann-Straussler-Scheinker syndrome137440C0017495OMIM11919449176640
HP:0001336HP:0045084Limb myoclonus1PRNP CL E G H5621137440Gerstmann-Straussler-Scheinker syndrome137440C0017495OMIM11919449176640
HP:0001336HP:0010530Palatal myoclonus1PRNP CL E G H5621137440Gerstmann-Straussler-Scheinker syndrome137440C0017495OMIM11919449176640
HP:0001336HP:0040148Cortical myoclonus1PRNP CL E G H5621137440Gerstmann-Straussler-Scheinker syndrome137440C0017495OMIM11919449176640
HP:0001336HP:0025097Eyelid myoclonus1PRNP CL E G H5621137440Gerstmann-Straussler-Scheinker syndrome137440C0017495OMIM11919449176640
HP:0001336HP:0010531Spinal myoclonus1PRNP CL E G H5621137440Gerstmann-Straussler-Scheinker syndrome137440C0017495OMIM11919449176640
HP:0001336HP:0012462Chin myoclonus1PRNP CL E G H5621137440Gerstmann-Straussler-Scheinker syndrome137440C0017495OMIM11919449176640
HP:0001336HP:0025357Erratic myoclonus1PRNP CL E G H5621137440Gerstmann-Straussler-Scheinker syndrome137440C0017495OMIM11919449176640
HP:0001336HP:0003739Myoclonic spasms1PRNP CL E G H5621137440Gerstmann-Straussler-Scheinker syndrome137440C0017495OMIM11919449176640
HP:0001336HP:0012323Sleep myoclonus1PRNP CL E G H5621137440Gerstmann-Straussler-Scheinker syndrome137440C0017495OMIM11919449176640
HP:0001336HP:0007000Morning myoclonic jerks1PRNP CL E G H5621123400Jakob-Creutzfeldt disease123400C0022336OMIM11919449176640
HP:0001336HP:0031986Polyminimyoclonus1PRNP CL E G H5621123400Jakob-Creutzfeldt disease123400C0022336OMIM11919449176640
HP:0001336HP:0040148Cortical myoclonus1PRNP CL E G H5621123400Jakob-Creutzfeldt disease123400C0022336OMIM11919449176640
HP:0001336HP:0045084Limb myoclonus1PRNP CL E G H5621123400Jakob-Creutzfeldt disease123400C0022336OMIM11919449176640
HP:0001336HP:0010530Palatal myoclonus1PRNP CL E G H5621123400Jakob-Creutzfeldt disease123400C0022336OMIM11919449176640
HP:0001336HP:0010531Spinal myoclonus1PRNP CL E G H5621123400Jakob-Creutzfeldt disease123400C0022336OMIM11919449176640
HP:0001336HP:0012462Chin myoclonus1PRNP CL E G H5621123400Jakob-Creutzfeldt disease123400C0022336OMIM11919449176640
HP:0001336HP:0025097Eyelid myoclonus1PRNP CL E G H5621123400Jakob-Creutzfeldt disease123400C0022336OMIM11919449176640
HP:0001336HP:0012323Sleep myoclonus1PRNP CL E G H5621123400Jakob-Creutzfeldt disease123400C0022336OMIM11919449176640
HP:0001336HP:0025357Erratic myoclonus1PRNP CL E G H5621123400Jakob-Creutzfeldt disease123400C0022336OMIM11919449176640
HP:0001336HP:0003739Myoclonic spasms1PRNP CL E G H5621123400Jakob-Creutzfeldt disease123400C0022336OMIM11919449176640
HP:0001336HP:0012323Sleep myoclonus1PRRT2 CL E G H112476306ORPHA179930500614386
HP:0001336HP:0025357Erratic myoclonus1PRRT2 CL E G H112476306ORPHA179930500614386
HP:0001336HP:0003739Myoclonic spasms1PRRT2 CL E G H112476306ORPHA179930500614386
HP:0001336HP:0031986Polyminimyoclonus1PRRT2 CL E G H112476306ORPHA179930500614386
HP:0001336HP:0007000Morning myoclonic jerks1PRRT2 CL E G H112476306ORPHA179930500614386
HP:0001336HP:0010530Palatal myoclonus1PRRT2 CL E G H112476306ORPHA179930500614386
HP:0001336HP:0040148Cortical myoclonus1PRRT2 CL E G H112476306ORPHA179930500614386
HP:0001336HP:0045084Limb myoclonus1PRRT2 CL E G H112476306ORPHA179930500614386
HP:0001336HP:0010531Spinal myoclonus1PRRT2 CL E G H112476306ORPHA179930500614386
HP:0001336HP:0012462Chin myoclonus1PRRT2 CL E G H112476306ORPHA179930500614386
HP:0001336HP:0025097Eyelid myoclonus1PRRT2 CL E G H112476306ORPHA179930500614386
HP:0001336HP:0010531Spinal myoclonus1PSAP CL E G H5660139406ORPHA17729498176801
HP:0001336HP:0012462Chin myoclonus1PSAP CL E G H5660139406ORPHA17729498176801
HP:0001336HP:0025097Eyelid myoclonus1PSAP CL E G H5660139406ORPHA17729498176801
HP:0001336HP:0003739Myoclonic spasms1PSAP CL E G H5660139406ORPHA17729498176801
HP:0001336HP:0012323Sleep myoclonus1PSAP CL E G H5660139406ORPHA17729498176801
HP:0001336HP:0025357Erratic myoclonus1PSAP CL E G H5660139406ORPHA17729498176801
HP:0001336HP:0007000Morning myoclonic jerks1PSAP CL E G H5660139406ORPHA17729498176801
HP:0001336HP:0031986Polyminimyoclonus1PSAP CL E G H5660139406ORPHA17729498176801
HP:0001336HP:0045084Limb myoclonus1PSAP CL E G H5660139406ORPHA17729498176801
HP:0001336HP:0010530Palatal myoclonus1PSAP CL E G H5660139406ORPHA17729498176801
HP:0001336HP:0040148Cortical myoclonus1PSAP CL E G H5660139406ORPHA17729498176801
HP:0001336HP:0010531Spinal myoclonus1PSAP CL E G H5660611721Combined saposin deficiency611721C2673635OMIM17729498176801
HP:0001336HP:0012462Chin myoclonus1PSAP CL E G H5660611721Combined saposin deficiency611721C2673635OMIM17729498176801
HP:0001336HP:0025097Eyelid myoclonus1PSAP CL E G H5660611721Combined saposin deficiency611721C2673635OMIM17729498176801
HP:0001336HP:0003739Myoclonic spasms1PSAP CL E G H5660611721Combined saposin deficiency611721C2673635OMIM17729498176801
HP:0001336HP:0012323Sleep myoclonus1PSAP CL E G H5660611721Combined saposin deficiency611721C2673635OMIM17729498176801
HP:0001336HP:0025357Erratic myoclonus1PSAP CL E G H5660611721Combined saposin deficiency611721C2673635OMIM17729498176801
HP:0001336HP:0007000Morning myoclonic jerks1PSAP CL E G H5660611721Combined saposin deficiency611721C2673635OMIM17729498176801
HP:0001336HP:0031986Polyminimyoclonus1PSAP CL E G H5660611721Combined saposin deficiency611721C2673635OMIM17729498176801
HP:0001336HP:0045084Limb myoclonus1PSAP CL E G H5660611721Combined saposin deficiency611721C2673635OMIM17729498176801
HP:0001336HP:0010530Palatal myoclonus1PSAP CL E G H5660611721Combined saposin deficiency611721C2673635OMIM17729498176801
HP:0001336HP:0040148Cortical myoclonus1PSAP CL E G H5660611721Combined saposin deficiency611721C2673635OMIM17729498176801
HP:0001336HP:0007000Morning myoclonic jerks1PSAP CL E G H5660610539Gaucher disease, atypical, due to saposin C deficiency610539C1864651OMIM17729498176801
HP:0001336HP:0010531Spinal myoclonus1PSAP CL E G H5660610539Gaucher disease, atypical, due to saposin C deficiency610539C1864651OMIM17729498176801
HP:0001336HP:0040148Cortical myoclonus1PSAP CL E G H5660610539Gaucher disease, atypical, due to saposin C deficiency610539C1864651OMIM17729498176801
HP:0001336HP:0045084Limb myoclonus1PSAP CL E G H5660610539Gaucher disease, atypical, due to saposin C deficiency610539C1864651OMIM17729498176801
HP:0001336HP:0012323Sleep myoclonus1PSAP CL E G H5660610539Gaucher disease, atypical, due to saposin C deficiency610539C1864651OMIM17729498176801
HP:0001336HP:0012462Chin myoclonus1PSAP CL E G H5660610539Gaucher disease, atypical, due to saposin C deficiency610539C1864651OMIM17729498176801
HP:0001336HP:0025097Eyelid myoclonus1PSAP CL E G H5660610539Gaucher disease, atypical, due to saposin C deficiency610539C1864651OMIM17729498176801
HP:0001336HP:0031986Polyminimyoclonus1PSAP CL E G H5660610539Gaucher disease, atypical, due to saposin C deficiency610539C1864651OMIM17729498176801
HP:0001336HP:0025357Erratic myoclonus1PSAP CL E G H5660610539Gaucher disease, atypical, due to saposin C deficiency610539C1864651OMIM17729498176801
HP:0001336HP:0003739Myoclonic spasms1PSAP CL E G H5660610539Gaucher disease, atypical, due to saposin C deficiency610539C1864651OMIM17729498176801
HP:0001336HP:0010530Palatal myoclonus1PSAP CL E G H5660610539Gaucher disease, atypical, due to saposin C deficiency610539C1864651OMIM17729498176801
HP:0001336HP:0012323Sleep myoclonus1PSEN1 CL E G H56631020ORPHA15019508104311
HP:0001336HP:0025357Erratic myoclonus1PSEN1 CL E G H56631020ORPHA15019508104311
HP:0001336HP:0003739Myoclonic spasms1PSEN1 CL E G H56631020ORPHA15019508104311
HP:0001336HP:0031986Polyminimyoclonus1PSEN1 CL E G H56631020ORPHA15019508104311
HP:0001336HP:0007000Morning myoclonic jerks1PSEN1 CL E G H56631020ORPHA15019508104311
HP:0001336HP:0010530Palatal myoclonus1PSEN1 CL E G H56631020ORPHA15019508104311
HP:0001336HP:0040148Cortical myoclonus1PSEN1 CL E G H56631020ORPHA15019508104311
HP:0001336HP:0045084Limb myoclonus1PSEN1 CL E G H56631020ORPHA15019508104311
HP:0001336HP:0010531Spinal myoclonus1PSEN1 CL E G H56631020ORPHA15019508104311
HP:0001336HP:0012462Chin myoclonus1PSEN1 CL E G H56631020ORPHA15019508104311
HP:0001336HP:0025097Eyelid myoclonus1PSEN1 CL E G H56631020ORPHA15019508104311
HP:0001336HP:0007000Morning myoclonic jerks1PSEN1 CL E G H5663607822Alzheimer disease, type 3607822C1843013OMIM15019508104311
HP:0001336HP:0031986Polyminimyoclonus1PSEN1 CL E G H5663607822Alzheimer disease, type 3607822C1843013OMIM15019508104311
HP:0001336HP:0045084Limb myoclonus1PSEN1 CL E G H5663607822Alzheimer disease, type 3607822C1843013OMIM15019508104311
HP:0001336HP:0010530Palatal myoclonus1PSEN1 CL E G H5663607822Alzheimer disease, type 3607822C1843013OMIM15019508104311
HP:0001336HP:0040148Cortical myoclonus1PSEN1 CL E G H5663607822Alzheimer disease, type 3607822C1843013OMIM15019508104311
HP:0001336HP:0025097Eyelid myoclonus1PSEN1 CL E G H5663607822Alzheimer disease, type 3607822C1843013OMIM15019508104311
HP:0001336HP:0010531Spinal myoclonus1PSEN1 CL E G H5663607822Alzheimer disease, type 3607822C1843013OMIM15019508104311
HP:0001336HP:0012462Chin myoclonus1PSEN1 CL E G H5663607822Alzheimer disease, type 3607822C1843013OMIM15019508104311
HP:0001336HP:0003739Myoclonic spasms1PSEN1 CL E G H5663607822Alzheimer disease, type 3607822C1843013OMIM15019508104311
HP:0001336HP:0012323Sleep myoclonus1PSEN1 CL E G H5663607822Alzheimer disease, type 3607822C1843013OMIM15019508104311
HP:0001336HP:0025357Erratic myoclonus1PSEN1 CL E G H5663607822Alzheimer disease, type 3607822C1843013OMIM15019508104311
HP:0001336HP:0040148Cortical myoclonus1PSEN2 CL E G H56641020ORPHA12799509600759
HP:0001336HP:0045084Limb myoclonus1PSEN2 CL E G H56641020ORPHA12799509600759
HP:0001336HP:0010530Palatal myoclonus1PSEN2 CL E G H56641020ORPHA12799509600759
HP:0001336HP:0010531Spinal myoclonus1PSEN2 CL E G H56641020ORPHA12799509600759
HP:0001336HP:0012462Chin myoclonus1PSEN2 CL E G H56641020ORPHA12799509600759
HP:0001336HP:0025097Eyelid myoclonus1PSEN2 CL E G H56641020ORPHA12799509600759
HP:0001336HP:0025357Erratic myoclonus1PSEN2 CL E G H56641020ORPHA12799509600759
HP:0001336HP:0003739Myoclonic spasms1PSEN2 CL E G H56641020ORPHA12799509600759
HP:0001336HP:0012323Sleep myoclonus1PSEN2 CL E G H56641020ORPHA12799509600759
HP:0001336HP:0007000Morning myoclonic jerks1PSEN2 CL E G H56641020ORPHA12799509600759
HP:0001336HP:0031986Polyminimyoclonus1PSEN2 CL E G H56641020ORPHA12799509600759
HP:0001336HP:0010531Spinal myoclonus1PURA CL E G H5813616158Mental retardation, autosomal dominant 31616158C4015357OMIM14599701600473
HP:0001336HP:0012462Chin myoclonus1PURA CL E G H5813616158Mental retardation, autosomal dominant 31616158C4015357OMIM14599701600473
HP:0001336HP:0025097Eyelid myoclonus1PURA CL E G H5813616158Mental retardation, autosomal dominant 31616158C4015357OMIM14599701600473
HP:0001336HP:0003739Myoclonic spasms1PURA CL E G H5813616158Mental retardation, autosomal dominant 31616158C4015357OMIM14599701600473
HP:0001336HP:0012323Sleep myoclonus1PURA CL E G H5813616158Mental retardation, autosomal dominant 31616158C4015357OMIM14599701600473
HP:0001336HP:0025357Erratic myoclonus1PURA CL E G H5813616158Mental retardation, autosomal dominant 31616158C4015357OMIM14599701600473
HP:0001336HP:0007000Morning myoclonic jerks1PURA CL E G H5813616158Mental retardation, autosomal dominant 31616158C4015357OMIM14599701600473
HP:0001336HP:0031986Polyminimyoclonus1PURA CL E G H5813616158Mental retardation, autosomal dominant 31616158C4015357OMIM14599701600473
HP:0001336HP:0045084Limb myoclonus1PURA CL E G H5813616158Mental retardation, autosomal dominant 31616158C4015357OMIM14599701600473
HP:0001336HP:0010530Palatal myoclonus1PURA CL E G H5813616158Mental retardation, autosomal dominant 31616158C4015357OMIM14599701600473
HP:0001336HP:0040148Cortical myoclonus1PURA CL E G H5813616158Mental retardation, autosomal dominant 31616158C4015357OMIM14599701600473
HP:0001336HP:0007000Morning myoclonic jerks1QDPR CL E G H5860261630Dihydropteridine reductase deficiency261630C0268465OMIM13199752612676
HP:0001336HP:0031986Polyminimyoclonus1QDPR CL E G H5860261630Dihydropteridine reductase deficiency261630C0268465OMIM13199752612676
HP:0001336HP:0040148Cortical myoclonus1QDPR CL E G H5860261630Dihydropteridine reductase deficiency261630C0268465OMIM13199752612676
HP:0001336HP:0045084Limb myoclonus1QDPR CL E G H5860261630Dihydropteridine reductase deficiency261630C0268465OMIM13199752612676
HP:0001336HP:0010530Palatal myoclonus1QDPR CL E G H5860261630Dihydropteridine reductase deficiency261630C0268465OMIM13199752612676
HP:0001336HP:0012462Chin myoclonus1QDPR CL E G H5860261630Dihydropteridine reductase deficiency261630C0268465OMIM13199752612676
HP:0001336HP:0025097Eyelid myoclonus1QDPR CL E G H5860261630Dihydropteridine reductase deficiency261630C0268465OMIM13199752612676
HP:0001336HP:0010531Spinal myoclonus1QDPR CL E G H5860261630Dihydropteridine reductase deficiency261630C0268465OMIM13199752612676
HP:0001336HP:0025357Erratic myoclonus1QDPR CL E G H5860261630Dihydropteridine reductase deficiency261630C0268465OMIM13199752612676
HP:0001336HP:0003739Myoclonic spasms1QDPR CL E G H5860261630Dihydropteridine reductase deficiency261630C0268465OMIM13199752612676
HP:0001336HP:0012323Sleep myoclonus1QDPR CL E G H5860261630Dihydropteridine reductase deficiency261630C0268465OMIM13199752612676
HP:0001336HP:0031986Polyminimyoclonus1RFT1 CL E G H91869612015Congenital disorder of glycosylation type 1N612015C2677590OMIM150530220611908
HP:0001336HP:0007000Morning myoclonic jerks1RFT1 CL E G H91869612015Congenital disorder of glycosylation type 1N612015C2677590OMIM150530220611908
HP:0001336HP:0040148Cortical myoclonus1RFT1 CL E G H91869612015Congenital disorder of glycosylation type 1N612015C2677590OMIM150530220611908
HP:0001336HP:0045084Limb myoclonus1RFT1 CL E G H91869612015Congenital disorder of glycosylation type 1N612015C2677590OMIM150530220611908
HP:0001336HP:0010530Palatal myoclonus1RFT1 CL E G H91869612015Congenital disorder of glycosylation type 1N612015C2677590OMIM150530220611908
HP:0001336HP:0010531Spinal myoclonus1RFT1 CL E G H91869612015Congenital disorder of glycosylation type 1N612015C2677590OMIM150530220611908
HP:0001336HP:0012462Chin myoclonus1RFT1 CL E G H91869612015Congenital disorder of glycosylation type 1N612015C2677590OMIM150530220611908
HP:0001336HP:0025097Eyelid myoclonus1RFT1 CL E G H91869612015Congenital disorder of glycosylation type 1N612015C2677590OMIM150530220611908
HP:0001336HP:0012323Sleep myoclonus1RFT1 CL E G H91869612015Congenital disorder of glycosylation type 1N612015C2677590OMIM150530220611908
HP:0001336HP:0025357Erratic myoclonus1RFT1 CL E G H91869612015Congenital disorder of glycosylation type 1N612015C2677590OMIM150530220611908
HP:0001336HP:0003739Myoclonic spasms1RFT1 CL E G H91869612015Congenital disorder of glycosylation type 1N612015C2677590OMIM150530220611908
HP:0001336HP:0012462Chin myoclonus1SAMD12 CL E G H40147486814ORPHA17531750618073
HP:0001336HP:0025097Eyelid myoclonus1SAMD12 CL E G H40147486814ORPHA17531750618073
HP:0001336HP:0010531Spinal myoclonus1SAMD12 CL E G H40147486814ORPHA17531750618073
HP:0001336HP:0025357Erratic myoclonus1SAMD12 CL E G H40147486814ORPHA17531750618073
HP:0001336HP:0003739Myoclonic spasms1SAMD12 CL E G H40147486814ORPHA17531750618073
HP:0001336HP:0012323Sleep myoclonus1SAMD12 CL E G H40147486814ORPHA17531750618073
HP:0001336HP:0007000Morning myoclonic jerks1SAMD12 CL E G H40147486814ORPHA17531750618073
HP:0001336HP:0031986Polyminimyoclonus1SAMD12 CL E G H40147486814ORPHA17531750618073
HP:0001336HP:0040148Cortical myoclonus1SAMD12 CL E G H40147486814ORPHA17531750618073
HP:0001336HP:0045084Limb myoclonus1SAMD12 CL E G H40147486814ORPHA17531750618073
HP:0001336HP:0010530Palatal myoclonus1SAMD12 CL E G H40147486814ORPHA17531750618073
HP:0001336HP:0007000Morning myoclonic jerks1SC5D CL E G H630946059ORPHA124210547602286
HP:0001336HP:0031986Polyminimyoclonus1SC5D CL E G H630946059ORPHA124210547602286
HP:0001336HP:0040148Cortical myoclonus1SC5D CL E G H630946059ORPHA124210547602286
HP:0001336HP:0045084Limb myoclonus1SC5D CL E G H630946059ORPHA124210547602286
HP:0001336HP:0010530Palatal myoclonus1SC5D CL E G H630946059ORPHA124210547602286
HP:0001336HP:0025097Eyelid myoclonus1SC5D CL E G H630946059ORPHA124210547602286
HP:0001336HP:0010531Spinal myoclonus1SC5D CL E G H630946059ORPHA124210547602286
HP:0001336HP:0012462Chin myoclonus1SC5D CL E G H630946059ORPHA124210547602286
HP:0001336HP:0025357Erratic myoclonus1SC5D CL E G H630946059ORPHA124210547602286
HP:0001336HP:0003739Myoclonic spasms1SC5D CL E G H630946059ORPHA124210547602286
HP:0001336HP:0012323Sleep myoclonus1SC5D CL E G H630946059ORPHA124210547602286
HP:0001336HP:0031986Polyminimyoclonus1SCARB2 CL E G H950254900Epilepsy, progressive myoclonic 4, with or without renal failure254900C0751779OMIM14741665602257
HP:0001336HP:0007000Morning myoclonic jerks1SCARB2 CL E G H950254900Epilepsy, progressive myoclonic 4, with or without renal failure254900C0751779OMIM14741665602257
HP:0001336HP:0040148Cortical myoclonus1SCARB2 CL E G H950254900Epilepsy, progressive myoclonic 4, with or without renal failure254900C0751779OMIM14741665602257
HP:0001336HP:0045084Limb myoclonus1SCARB2 CL E G H950254900Epilepsy, progressive myoclonic 4, with or without renal failure254900C0751779OMIM14741665602257
HP:0001336HP:0010530Palatal myoclonus1SCARB2 CL E G H950254900Epilepsy, progressive myoclonic 4, with or without renal failure254900C0751779OMIM14741665602257
HP:0001336HP:0010531Spinal myoclonus1SCARB2 CL E G H950254900Epilepsy, progressive myoclonic 4, with or without renal failure254900C0751779OMIM14741665602257
HP:0001336HP:0012462Chin myoclonus1SCARB2 CL E G H950254900Epilepsy, progressive myoclonic 4, with or without renal failure254900C0751779OMIM14741665602257
HP:0001336HP:0025097Eyelid myoclonus1SCARB2 CL E G H950254900Epilepsy, progressive myoclonic 4, with or without renal failure254900C0751779OMIM14741665602257
HP:0001336HP:0012323Sleep myoclonus1SCARB2 CL E G H950254900Epilepsy, progressive myoclonic 4, with or without renal failure254900C0751779OMIM14741665602257
HP:0001336HP:0025357Erratic myoclonus1SCARB2 CL E G H950254900Epilepsy, progressive myoclonic 4, with or without renal failure254900C0751779OMIM14741665602257
HP:0001336HP:0003739Myoclonic spasms1SCARB2 CL E G H950254900Epilepsy, progressive myoclonic 4, with or without renal failure254900C0751779OMIM14741665602257
HP:0001336HP:0012462Chin myoclonus1SCN1A CL E G H63232382ORPHA1403010585182389
HP:0001336HP:0025097Eyelid myoclonus1SCN1A CL E G H63232382ORPHA1403010585182389
HP:0001336HP:0010531Spinal myoclonus1SCN1A CL E G H63232382ORPHA1403010585182389
HP:0001336HP:0025357Erratic myoclonus1SCN1A CL E G H63232382ORPHA1403010585182389
HP:0001336HP:0003739Myoclonic spasms1SCN1A CL E G H63232382ORPHA1403010585182389
HP:0001336HP:0012323Sleep myoclonus1SCN1A CL E G H63232382ORPHA1403010585182389
HP:0001336HP:0007000Morning myoclonic jerks1SCN1A CL E G H63232382ORPHA1403010585182389
HP:0001336HP:0031986Polyminimyoclonus1SCN1A CL E G H63232382ORPHA1403010585182389
HP:0001336HP:0040148Cortical myoclonus1SCN1A CL E G H63232382ORPHA1403010585182389
HP:0001336HP:0045084Limb myoclonus1SCN1A CL E G H63232382ORPHA1403010585182389
HP:0001336HP:0010530Palatal myoclonus1SCN1A CL E G H63232382ORPHA1403010585182389
HP:0001336HP:0040148Cortical myoclonus1SCN2A CL E G H6326306ORPHA1228010588182390
HP:0001336HP:0045084Limb myoclonus1SCN2A CL E G H6326306ORPHA1228010588182390
HP:0001336HP:0010530Palatal myoclonus1SCN2A CL E G H6326306ORPHA1228010588182390
HP:0001336HP:0012462Chin myoclonus1SCN2A CL E G H6326306ORPHA1228010588182390
HP:0001336HP:0025097Eyelid myoclonus1SCN2A CL E G H6326306ORPHA1228010588182390
HP:0001336HP:0010531Spinal myoclonus1SCN2A CL E G H6326306ORPHA1228010588182390
HP:0001336HP:0025357Erratic myoclonus1SCN2A CL E G H6326306ORPHA1228010588182390
HP:0001336HP:0003739Myoclonic spasms1SCN2A CL E G H6326306ORPHA1228010588182390
HP:0001336HP:0012323Sleep myoclonus1SCN2A CL E G H6326306ORPHA1228010588182390
HP:0001336HP:0007000Morning myoclonic jerks1SCN2A CL E G H6326306ORPHA1228010588182390
HP:0001336HP:0031986Polyminimyoclonus1SCN2A CL E G H6326306ORPHA1228010588182390
HP:0001336HP:0012462Chin myoclonus1SCN2A CL E G H63263451Meier Blumberg Imahorn syndromeORPHA1228010588182390
HP:0001336HP:0025097Eyelid myoclonus1SCN2A CL E G H63263451Meier Blumberg Imahorn syndromeORPHA1228010588182390
HP:0001336HP:0010531Spinal myoclonus1SCN2A CL E G H63263451Meier Blumberg Imahorn syndromeORPHA1228010588182390
HP:0001336HP:0025357Erratic myoclonus1SCN2A CL E G H63263451Meier Blumberg Imahorn syndromeORPHA1228010588182390
HP:0001336HP:0003739Myoclonic spasms1SCN2A CL E G H63263451Meier Blumberg Imahorn syndromeORPHA1228010588182390
HP:0001336HP:0012323Sleep myoclonus1SCN2A CL E G H63263451Meier Blumberg Imahorn syndromeORPHA1228010588182390
HP:0001336HP:0007000Morning myoclonic jerks1SCN2A CL E G H63263451Meier Blumberg Imahorn syndromeORPHA1228010588182390
HP:0001336HP:0031986Polyminimyoclonus1SCN2A CL E G H63263451Meier Blumberg Imahorn syndromeORPHA1228010588182390
HP:0001336HP:0040148Cortical myoclonus1SCN2A CL E G H63263451Meier Blumberg Imahorn syndromeORPHA1228010588182390
HP:0001336HP:0045084Limb myoclonus1SCN2A CL E G H63263451Meier Blumberg Imahorn syndromeORPHA1228010588182390
HP:0001336HP:0010530Palatal myoclonus1SCN2A CL E G H63263451Meier Blumberg Imahorn syndromeORPHA1228010588182390
HP:0001336HP:0025357Erratic myoclonus1SCN8A CL E G H6334306ORPHA1179910596600702
HP:0001336HP:0003739Myoclonic spasms1SCN8A CL E G H6334306ORPHA1179910596600702
HP:0001336HP:0012323Sleep myoclonus1SCN8A CL E G H6334306ORPHA1179910596600702
HP:0001336HP:0007000Morning myoclonic jerks1SCN8A CL E G H6334306ORPHA1179910596600702
HP:0001336HP:0031986Polyminimyoclonus1SCN8A CL E G H6334306ORPHA1179910596600702
HP:0001336HP:0040148Cortical myoclonus1SCN8A CL E G H6334306ORPHA1179910596600702
HP:0001336HP:0045084Limb myoclonus1SCN8A CL E G H6334306ORPHA1179910596600702
HP:0001336HP:0010530Palatal myoclonus1SCN8A CL E G H6334306ORPHA1179910596600702
HP:0001336HP:0012462Chin myoclonus1SCN8A CL E G H6334306ORPHA1179910596600702
HP:0001336HP:0025097Eyelid myoclonus1SCN8A CL E G H6334306ORPHA1179910596600702
HP:0001336HP:0010531Spinal myoclonus1SCN8A CL E G H6334306ORPHA1179910596600702
HP:0001336HP:0012462Chin myoclonus1SDHA CL E G H6389252011Mitochondrial complex II deficiency252011C1855008OMIM1250310680600857
HP:0001336HP:0025097Eyelid myoclonus1SDHA CL E G H6389252011Mitochondrial complex II deficiency252011C1855008OMIM1250310680600857
HP:0001336HP:0010531Spinal myoclonus1SDHA CL E G H6389252011Mitochondrial complex II deficiency252011C1855008OMIM1250310680600857
HP:0001336HP:0025357Erratic myoclonus1SDHA CL E G H6389252011Mitochondrial complex II deficiency252011C1855008OMIM1250310680600857
HP:0001336HP:0003739Myoclonic spasms1SDHA CL E G H6389252011Mitochondrial complex II deficiency252011C1855008OMIM1250310680600857
HP:0001336HP:0012323Sleep myoclonus1SDHA CL E G H6389252011Mitochondrial complex II deficiency252011C1855008OMIM1250310680600857
HP:0001336HP:0007000Morning myoclonic jerks1SDHA CL E G H6389252011Mitochondrial complex II deficiency252011C1855008OMIM1250310680600857
HP:0001336HP:0031986Polyminimyoclonus1SDHA CL E G H6389252011Mitochondrial complex II deficiency252011C1855008OMIM1250310680600857
HP:0001336HP:0040148Cortical myoclonus1SDHA CL E G H6389252011Mitochondrial complex II deficiency252011C1855008OMIM1250310680600857
HP:0001336HP:0045084Limb myoclonus1SDHA CL E G H6389252011Mitochondrial complex II deficiency252011C1855008OMIM1250310680600857
HP:0001336HP:0010530Palatal myoclonus1SDHA CL E G H6389252011Mitochondrial complex II deficiency252011C1855008OMIM1250310680600857
HP:0001336HP:0007000Morning myoclonic jerks1SDHAF1 CL E G H644096252011Mitochondrial complex II deficiency252011C1855008OMIM17733867612848
HP:0001336HP:0031986Polyminimyoclonus1SDHAF1 CL E G H644096252011Mitochondrial complex II deficiency252011C1855008OMIM17733867612848
HP:0001336HP:0040148Cortical myoclonus1SDHAF1 CL E G H644096252011Mitochondrial complex II deficiency252011C1855008OMIM17733867612848
HP:0001336HP:0045084Limb myoclonus1SDHAF1 CL E G H644096252011Mitochondrial complex II deficiency252011C1855008OMIM17733867612848
HP:0001336HP:0010530Palatal myoclonus1SDHAF1 CL E G H644096252011Mitochondrial complex II deficiency252011C1855008OMIM17733867612848
HP:0001336HP:0025097Eyelid myoclonus1SDHAF1 CL E G H644096252011Mitochondrial complex II deficiency252011C1855008OMIM17733867612848
HP:0001336HP:0010531Spinal myoclonus1SDHAF1 CL E G H644096252011Mitochondrial complex II deficiency252011C1855008OMIM17733867612848
HP:0001336HP:0012462Chin myoclonus1SDHAF1 CL E G H644096252011Mitochondrial complex II deficiency252011C1855008OMIM17733867612848
HP:0001336HP:0025357Erratic myoclonus1SDHAF1 CL E G H644096252011Mitochondrial complex II deficiency252011C1855008OMIM17733867612848
HP:0001336HP:0003739Myoclonic spasms1SDHAF1 CL E G H644096252011Mitochondrial complex II deficiency252011C1855008OMIM17733867612848
HP:0001336HP:0012323Sleep myoclonus1SDHAF1 CL E G H644096252011Mitochondrial complex II deficiency252011C1855008OMIM17733867612848
HP:0001336HP:0010531Spinal myoclonus1SDHD CL E G H6392252011Mitochondrial complex II deficiency252011C1855008OMIM168610683602690
HP:0001336HP:0012462Chin myoclonus1SDHD CL E G H6392252011Mitochondrial complex II deficiency252011C1855008OMIM168610683602690
HP:0001336HP:0025097Eyelid myoclonus1SDHD CL E G H6392252011Mitochondrial complex II deficiency252011C1855008OMIM168610683602690
HP:0001336HP:0003739Myoclonic spasms1SDHD CL E G H6392252011Mitochondrial complex II deficiency252011C1855008OMIM168610683602690
HP:0001336HP:0012323Sleep myoclonus1SDHD CL E G H6392252011Mitochondrial complex II deficiency252011C1855008OMIM168610683602690
HP:0001336HP:0025357Erratic myoclonus1SDHD CL E G H6392252011Mitochondrial complex II deficiency252011C1855008OMIM168610683602690
HP:0001336HP:0007000Morning myoclonic jerks1SDHD CL E G H6392252011Mitochondrial complex II deficiency252011C1855008OMIM168610683602690
HP:0001336HP:0031986Polyminimyoclonus1SDHD CL E G H6392252011Mitochondrial complex II deficiency252011C1855008OMIM168610683602690
HP:0001336HP:0010530Palatal myoclonus1SDHD CL E G H6392252011Mitochondrial complex II deficiency252011C1855008OMIM168610683602690
HP:0001336HP:0040148Cortical myoclonus1SDHD CL E G H6392252011Mitochondrial complex II deficiency252011C1855008OMIM168610683602690
HP:0001336HP:0045084Limb myoclonus1SDHD CL E G H6392252011Mitochondrial complex II deficiency252011C1855008OMIM168610683602690
HP:0001336HP:0007000Morning myoclonic jerks1SERPINI1 CL E G H5274604218Encephalopathy, familial, with neuroserpin inclusion bodies604218C1858680OMIM13108943602445
HP:0001336HP:0031986Polyminimyoclonus1SERPINI1 CL E G H5274604218Encephalopathy, familial, with neuroserpin inclusion bodies604218C1858680OMIM13108943602445
HP:0001336HP:0045084Limb myoclonus1SERPINI1 CL E G H5274604218Encephalopathy, familial, with neuroserpin inclusion bodies604218C1858680OMIM13108943602445
HP:0001336HP:0010530Palatal myoclonus1SERPINI1 CL E G H5274604218Encephalopathy, familial, with neuroserpin inclusion bodies604218C1858680OMIM13108943602445
HP:0001336HP:0040148Cortical myoclonus1SERPINI1 CL E G H5274604218Encephalopathy, familial, with neuroserpin inclusion bodies604218C1858680OMIM13108943602445
HP:0001336HP:0010531Spinal myoclonus1SERPINI1 CL E G H5274604218Encephalopathy, familial, with neuroserpin inclusion bodies604218C1858680OMIM13108943602445
HP:0001336HP:0012462Chin myoclonus1SERPINI1 CL E G H5274604218Encephalopathy, familial, with neuroserpin inclusion bodies604218C1858680OMIM13108943602445
HP:0001336HP:0025097Eyelid myoclonus1SERPINI1 CL E G H5274604218Encephalopathy, familial, with neuroserpin inclusion bodies604218C1858680OMIM13108943602445
HP:0001336HP:0003739Myoclonic spasms1SERPINI1 CL E G H5274604218Encephalopathy, familial, with neuroserpin inclusion bodies604218C1858680OMIM13108943602445
HP:0001336HP:0012323Sleep myoclonus1SERPINI1 CL E G H5274604218Encephalopathy, familial, with neuroserpin inclusion bodies604218C1858680OMIM13108943602445
HP:0001336HP:0025357Erratic myoclonus1SERPINI1 CL E G H5274604218Encephalopathy, familial, with neuroserpin inclusion bodies604218C1858680OMIM13108943602445
HP:0001336HP:0012462Chin myoclonus1SGCE CL E G H8910159900Myoclonic dystonia159900C1834570OMIM156810808604149
HP:0001336HP:0025097Eyelid myoclonus1SGCE CL E G H8910159900Myoclonic dystonia159900C1834570OMIM156810808604149
HP:0001336HP:0010531Spinal myoclonus1SGCE CL E G H8910159900Myoclonic dystonia159900C1834570OMIM156810808604149
HP:0001336HP:0025357Erratic myoclonus1SGCE CL E G H8910159900Myoclonic dystonia159900C1834570OMIM156810808604149
HP:0001336HP:0003739Myoclonic spasms1SGCE CL E G H8910159900Myoclonic dystonia159900C1834570OMIM156810808604149
HP:0001336HP:0012323Sleep myoclonus1SGCE CL E G H8910159900Myoclonic dystonia159900C1834570OMIM156810808604149
HP:0001336HP:0007000Morning myoclonic jerks1SGCE CL E G H8910159900Myoclonic dystonia159900C1834570OMIM156810808604149
HP:0001336HP:0031986Polyminimyoclonus1SGCE CL E G H8910159900Myoclonic dystonia159900C1834570OMIM156810808604149
HP:0001336HP:0040148Cortical myoclonus1SGCE CL E G H8910159900Myoclonic dystonia159900C1834570OMIM156810808604149
HP:0001336HP:0045084Limb myoclonus1SGCE CL E G H8910159900Myoclonic dystonia159900C1834570OMIM156810808604149
HP:0001336HP:0010530Palatal myoclonus1SGCE CL E G H8910159900Myoclonic dystonia159900C1834570OMIM156810808604149
HP:0001336HP:0040148Cortical myoclonus1SIK1 CL E G H1500941935ORPHA190911142605705
HP:0001336HP:0045084Limb myoclonus1SIK1 CL E G H1500941935ORPHA190911142605705
HP:0001336HP:0010530Palatal myoclonus1SIK1 CL E G H1500941935ORPHA190911142605705
HP:0001336HP:0010531Spinal myoclonus1SIK1 CL E G H1500941935ORPHA190911142605705
HP:0001336HP:0012462Chin myoclonus1SIK1 CL E G H1500941935ORPHA190911142605705
HP:0001336HP:0025097Eyelid myoclonus1SIK1 CL E G H1500941935ORPHA190911142605705
HP:0001336HP:0025357Erratic myoclonus1SIK1 CL E G H1500941935ORPHA190911142605705
HP:0001336HP:0003739Myoclonic spasms1SIK1 CL E G H1500941935ORPHA190911142605705
HP:0001336HP:0012323Sleep myoclonus1SIK1 CL E G H1500941935ORPHA190911142605705
HP:0001336HP:0007000Morning myoclonic jerks1SIK1 CL E G H1500941935ORPHA190911142605705
HP:0001336HP:0031986Polyminimyoclonus1SIK1 CL E G H1500941935ORPHA190911142605705
HP:0001336HP:0007000Morning myoclonic jerks1SIK1 CL E G H1500943451Meier Blumberg Imahorn syndromeORPHA190911142605705
HP:0001336HP:0031986Polyminimyoclonus1SIK1 CL E G H1500943451Meier Blumberg Imahorn syndromeORPHA190911142605705
HP:0001336HP:0045084Limb myoclonus1SIK1 CL E G H1500943451Meier Blumberg Imahorn syndromeORPHA190911142605705
HP:0001336HP:0010530Palatal myoclonus1SIK1 CL E G H1500943451Meier Blumberg Imahorn syndromeORPHA190911142605705
HP:0001336HP:0040148Cortical myoclonus1SIK1 CL E G H1500943451Meier Blumberg Imahorn syndromeORPHA190911142605705
HP:0001336HP:0025097Eyelid myoclonus1SIK1 CL E G H1500943451Meier Blumberg Imahorn syndromeORPHA190911142605705
HP:0001336HP:0010531Spinal myoclonus1SIK1 CL E G H1500943451Meier Blumberg Imahorn syndromeORPHA190911142605705
HP:0001336HP:0012462Chin myoclonus1SIK1 CL E G H1500943451Meier Blumberg Imahorn syndromeORPHA190911142605705
HP:0001336HP:0025357Erratic myoclonus1SIK1 CL E G H1500943451Meier Blumberg Imahorn syndromeORPHA190911142605705
HP:0001336HP:0003739Myoclonic spasms1SIK1 CL E G H1500943451Meier Blumberg Imahorn syndromeORPHA190911142605705
HP:0001336HP:0012323Sleep myoclonus1SIK1 CL E G H1500943451Meier Blumberg Imahorn syndromeORPHA190911142605705
HP:0001336HP:0025357Erratic myoclonus1SLC25A22 CL E G H797511935ORPHA155119954609302
HP:0001336HP:0003739Myoclonic spasms1SLC25A22 CL E G H797511935ORPHA155119954609302
HP:0001336HP:0012323Sleep myoclonus1SLC25A22 CL E G H797511935ORPHA155119954609302
HP:0001336HP:0007000Morning myoclonic jerks1SLC25A22 CL E G H797511935ORPHA155119954609302
HP:0001336HP:0031986Polyminimyoclonus1SLC25A22 CL E G H797511935ORPHA155119954609302
HP:0001336HP:0040148Cortical myoclonus1SLC25A22 CL E G H797511935ORPHA155119954609302
HP:0001336HP:0045084Limb myoclonus1SLC25A22 CL E G H797511935ORPHA155119954609302
HP:0001336HP:0010530Palatal myoclonus1SLC25A22 CL E G H797511935ORPHA155119954609302
HP:0001336HP:0012462Chin myoclonus1SLC25A22 CL E G H797511935ORPHA155119954609302
HP:0001336HP:0025097Eyelid myoclonus1SLC25A22 CL E G H797511935ORPHA155119954609302
HP:0001336HP:0010531Spinal myoclonus1SLC25A22 CL E G H797511935ORPHA155119954609302
HP:0001336HP:0031986Polyminimyoclonus1SLC25A46 CL E G H91137616505NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB616505C4225302OMIM138525198610826
HP:0001336HP:0007000Morning myoclonic jerks1SLC25A46 CL E G H91137616505NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB616505C4225302OMIM138525198610826
HP:0001336HP:0010530Palatal myoclonus1SLC25A46 CL E G H91137616505NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB616505C4225302OMIM138525198610826
HP:0001336HP:0040148Cortical myoclonus1SLC25A46 CL E G H91137616505NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB616505C4225302OMIM138525198610826
HP:0001336HP:0045084Limb myoclonus1SLC25A46 CL E G H91137616505NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB616505C4225302OMIM138525198610826
HP:0001336HP:0010531Spinal myoclonus1SLC25A46 CL E G H91137616505NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB616505C4225302OMIM138525198610826
HP:0001336HP:0012462Chin myoclonus1SLC25A46 CL E G H91137616505NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB616505C4225302OMIM138525198610826
HP:0001336HP:0025097Eyelid myoclonus1SLC25A46 CL E G H91137616505NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB616505C4225302OMIM138525198610826
HP:0001336HP:0012323Sleep myoclonus1SLC25A46 CL E G H91137616505NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB616505C4225302OMIM138525198610826
HP:0001336HP:0025357Erratic myoclonus1SLC25A46 CL E G H91137616505NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB616505C4225302OMIM138525198610826
HP:0001336HP:0003739Myoclonic spasms1SLC25A46 CL E G H91137616505NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB616505C4225302OMIM138525198610826
HP:0001336HP:0007000Morning myoclonic jerks1SLC2A1 CL E G H6513606777GLUT1 deficiency syndrome 1606777CN030711OMIM196511005138140
HP:0001336HP:0031986Polyminimyoclonus1SLC2A1 CL E G H6513606777GLUT1 deficiency syndrome 1606777CN030711OMIM196511005138140
HP:0001336HP:0040148Cortical myoclonus1SLC2A1 CL E G H6513606777GLUT1 deficiency syndrome 1606777CN030711OMIM196511005138140
HP:0001336HP:0045084Limb myoclonus1SLC2A1 CL E G H6513606777GLUT1 deficiency syndrome 1606777CN030711OMIM196511005138140
HP:0001336HP:0010530Palatal myoclonus1SLC2A1 CL E G H6513606777GLUT1 deficiency syndrome 1606777CN030711OMIM196511005138140
HP:0001336HP:0012462Chin myoclonus1SLC2A1 CL E G H6513606777GLUT1 deficiency syndrome 1606777CN030711OMIM196511005138140
HP:0001336HP:0025097Eyelid myoclonus1SLC2A1 CL E G H6513606777GLUT1 deficiency syndrome 1606777CN030711OMIM196511005138140
HP:0001336HP:0010531Spinal myoclonus1SLC2A1 CL E G H6513606777GLUT1 deficiency syndrome 1606777CN030711OMIM196511005138140
HP:0001336HP:0025357Erratic myoclonus1SLC2A1 CL E G H6513606777GLUT1 deficiency syndrome 1606777CN030711OMIM196511005138140
HP:0001336HP:0003739Myoclonic spasms1SLC2A1 CL E G H6513606777GLUT1 deficiency syndrome 1606777CN030711OMIM196511005138140
HP:0001336HP:0012323Sleep myoclonus1SLC2A1 CL E G H6513606777GLUT1 deficiency syndrome 1606777CN030711OMIM196511005138140
HP:0001336HP:0007000Morning myoclonic jerks1SLC52A2 CL E G H7958197229ORPHA152030224607882
HP:0001336HP:0031986Polyminimyoclonus1SLC52A2 CL E G H7958197229ORPHA152030224607882
HP:0001336HP:0040148Cortical myoclonus1SLC52A2 CL E G H7958197229ORPHA152030224607882
HP:0001336HP:0045084Limb myoclonus1SLC52A2 CL E G H7958197229ORPHA152030224607882
HP:0001336HP:0010530Palatal myoclonus1SLC52A2 CL E G H7958197229ORPHA152030224607882
HP:0001336HP:0025097Eyelid myoclonus1SLC52A2 CL E G H7958197229ORPHA152030224607882
HP:0001336HP:0010531Spinal myoclonus1SLC52A2 CL E G H7958197229ORPHA152030224607882
HP:0001336HP:0012462Chin myoclonus1SLC52A2 CL E G H7958197229ORPHA152030224607882
HP:0001336HP:0025357Erratic myoclonus1SLC52A2 CL E G H7958197229ORPHA152030224607882
HP:0001336HP:0003739Myoclonic spasms1SLC52A2 CL E G H7958197229ORPHA152030224607882
HP:0001336HP:0012323Sleep myoclonus1SLC52A2 CL E G H7958197229ORPHA152030224607882
HP:0001336HP:0010531Spinal myoclonus1SLC52A3 CL E G H11327897229ORPHA146416187613350
HP:0001336HP:0012462Chin myoclonus1SLC52A3 CL E G H11327897229ORPHA146416187613350
HP:0001336HP:0025097Eyelid myoclonus1SLC52A3 CL E G H11327897229ORPHA146416187613350
HP:0001336HP:0003739Myoclonic spasms1SLC52A3 CL E G H11327897229ORPHA146416187613350
HP:0001336HP:0012323Sleep myoclonus1SLC52A3 CL E G H11327897229ORPHA146416187613350
HP:0001336HP:0025357Erratic myoclonus1SLC52A3 CL E G H11327897229ORPHA146416187613350
HP:0001336HP:0007000Morning myoclonic jerks1SLC52A3 CL E G H11327897229ORPHA146416187613350
HP:0001336HP:0031986Polyminimyoclonus1SLC52A3 CL E G H11327897229ORPHA146416187613350
HP:0001336HP:0045084Limb myoclonus1SLC52A3 CL E G H11327897229ORPHA146416187613350
HP:0001336HP:0010530Palatal myoclonus1SLC52A3 CL E G H11327897229ORPHA146416187613350
HP:0001336HP:0040148Cortical myoclonus1SLC52A3 CL E G H11327897229ORPHA146416187613350
HP:0001336HP:0010531Spinal myoclonus1SLC6A5 CL E G H91523197Lateral body wall defectORPHA171811051604159
HP:0001336HP:0012462Chin myoclonus1SLC6A5 CL E G H91523197Lateral body wall defectORPHA171811051604159
HP:0001336HP:0025097Eyelid myoclonus1SLC6A5 CL E G H91523197Lateral body wall defectORPHA171811051604159
HP:0001336HP:0003739Myoclonic spasms1SLC6A5 CL E G H91523197Lateral body wall defectORPHA171811051604159
HP:0001336HP:0012323Sleep myoclonus1SLC6A5 CL E G H91523197Lateral body wall defectORPHA171811051604159
HP:0001336HP:0025357Erratic myoclonus1SLC6A5 CL E G H91523197Lateral body wall defectORPHA171811051604159
HP:0001336HP:0031986Polyminimyoclonus1SLC6A5 CL E G H91523197Lateral body wall defectORPHA171811051604159
HP:0001336HP:0007000Morning myoclonic jerks1SLC6A5 CL E G H91523197Lateral body wall defectORPHA171811051604159
HP:0001336HP:0010530Palatal myoclonus1SLC6A5 CL E G H91523197Lateral body wall defectORPHA171811051604159
HP:0001336HP:0040148Cortical myoclonus1SLC6A5 CL E G H91523197Lateral body wall defectORPHA171811051604159
HP:0001336HP:0045084Limb myoclonus1SLC6A5 CL E G H91523197Lateral body wall defectORPHA171811051604159
HP:0001336HP:0010531Spinal myoclonus1SNCA CL E G H6622171695ORPHA119311138163890
HP:0001336HP:0012462Chin myoclonus1SNCA CL E G H6622171695ORPHA119311138163890
HP:0001336HP:0025097Eyelid myoclonus1SNCA CL E G H6622171695ORPHA119311138163890
HP:0001336HP:0003739Myoclonic spasms1SNCA CL E G H6622171695ORPHA119311138163890
HP:0001336HP:0012323Sleep myoclonus1SNCA CL E G H6622171695ORPHA119311138163890
HP:0001336HP:0025357Erratic myoclonus1SNCA CL E G H6622171695ORPHA119311138163890
HP:0001336HP:0007000Morning myoclonic jerks1SNCA CL E G H6622171695ORPHA119311138163890
HP:0001336HP:0031986Polyminimyoclonus1SNCA CL E G H6622171695ORPHA119311138163890
HP:0001336HP:0045084Limb myoclonus1SNCA CL E G H6622171695ORPHA119311138163890
HP:0001336HP:0010530Palatal myoclonus1SNCA CL E G H6622171695ORPHA119311138163890
HP:0001336HP:0040148Cortical myoclonus1SNCA CL E G H6622171695ORPHA119311138163890
HP:0001336HP:0007000Morning myoclonic jerks1SNCA CL E G H6622168601Parkinson disease 1168601C1868595OMIM119311138163890
HP:0001336HP:0031986Polyminimyoclonus1SNCA CL E G H6622168601Parkinson disease 1168601C1868595OMIM119311138163890
HP:0001336HP:0040148Cortical myoclonus1SNCA CL E G H6622168601Parkinson disease 1168601C1868595OMIM119311138163890
HP:0001336HP:0045084Limb myoclonus1SNCA CL E G H6622168601Parkinson disease 1168601C1868595OMIM119311138163890
HP:0001336HP:0010530Palatal myoclonus1SNCA CL E G H6622168601Parkinson disease 1168601C1868595OMIM119311138163890
HP:0001336HP:0010531Spinal myoclonus1SNCA CL E G H6622168601Parkinson disease 1168601C1868595OMIM119311138163890
HP:0001336HP:0012462Chin myoclonus1SNCA CL E G H6622168601Parkinson disease 1168601C1868595OMIM119311138163890
HP:0001336HP:0025097Eyelid myoclonus1SNCA CL E G H6622168601Parkinson disease 1168601C1868595OMIM119311138163890
HP:0001336HP:0012323Sleep myoclonus1SNCA CL E G H6622168601Parkinson disease 1168601C1868595OMIM119311138163890
HP:0001336HP:0025357Erratic myoclonus1SNCA CL E G H6622168601Parkinson disease 1168601C1868595OMIM119311138163890
HP:0001336HP:0003739Myoclonic spasms1SNCA CL E G H6622168601Parkinson disease 1168601C1868595OMIM119311138163890
HP:0001336HP:0025357Erratic myoclonus1SORL1 CL E G H66531020ORPHA153711185602005
HP:0001336HP:0003739Myoclonic spasms1SORL1 CL E G H66531020ORPHA153711185602005
HP:0001336HP:0012323Sleep myoclonus1SORL1 CL E G H66531020ORPHA153711185602005
HP:0001336HP:0007000Morning myoclonic jerks1SORL1 CL E G H66531020ORPHA153711185602005
HP:0001336HP:0031986Polyminimyoclonus1SORL1 CL E G H66531020ORPHA153711185602005
HP:0001336HP:0040148Cortical myoclonus1SORL1 CL E G H66531020ORPHA153711185602005
HP:0001336HP:0045084Limb myoclonus1SORL1 CL E G H66531020ORPHA153711185602005
HP:0001336HP:0010530Palatal myoclonus1SORL1 CL E G H66531020ORPHA153711185602005
HP:0001336HP:0012462Chin myoclonus1SORL1 CL E G H66531020ORPHA153711185602005
HP:0001336HP:0025097Eyelid myoclonus1SORL1 CL E G H66531020ORPHA153711185602005
HP:0001336HP:0010531Spinal myoclonus1SORL1 CL E G H66531020ORPHA153711185602005
HP:0001336HP:0010531Spinal myoclonus1SPTAN1 CL E G H67093451Meier Blumberg Imahorn syndromeORPHA1226711273182810
HP:0001336HP:0012462Chin myoclonus1SPTAN1 CL E G H67093451Meier Blumberg Imahorn syndromeORPHA1226711273182810
HP:0001336HP:0025097Eyelid myoclonus1SPTAN1 CL E G H67093451Meier Blumberg Imahorn syndromeORPHA1226711273182810
HP:0001336HP:0003739Myoclonic spasms1SPTAN1 CL E G H67093451Meier Blumberg Imahorn syndromeORPHA1226711273182810
HP:0001336HP:0012323Sleep myoclonus1SPTAN1 CL E G H67093451Meier Blumberg Imahorn syndromeORPHA1226711273182810
HP:0001336HP:0025357Erratic myoclonus1SPTAN1 CL E G H67093451Meier Blumberg Imahorn syndromeORPHA1226711273182810
HP:0001336HP:0007000Morning myoclonic jerks1SPTAN1 CL E G H67093451Meier Blumberg Imahorn syndromeORPHA1226711273182810
HP:0001336HP:0031986Polyminimyoclonus1SPTAN1 CL E G H67093451Meier Blumberg Imahorn syndromeORPHA1226711273182810
HP:0001336HP:0010530Palatal myoclonus1SPTAN1 CL E G H67093451Meier Blumberg Imahorn syndromeORPHA1226711273182810
HP:0001336HP:0040148Cortical myoclonus1SPTAN1 CL E G H67093451Meier Blumberg Imahorn syndromeORPHA1226711273182810
HP:0001336HP:0045084Limb myoclonus1SPTAN1 CL E G H67093451Meier Blumberg Imahorn syndromeORPHA1226711273182810
HP:0001336HP:0007000Morning myoclonic jerks1ST3GAL3 CL E G H64873451Meier Blumberg Imahorn syndromeORPHA134010866606494
HP:0001336HP:0031986Polyminimyoclonus1ST3GAL3 CL E G H64873451Meier Blumberg Imahorn syndromeORPHA134010866606494
HP:0001336HP:0040148Cortical myoclonus1ST3GAL3 CL E G H64873451Meier Blumberg Imahorn syndromeORPHA134010866606494
HP:0001336HP:0045084Limb myoclonus1ST3GAL3 CL E G H64873451Meier Blumberg Imahorn syndromeORPHA134010866606494
HP:0001336HP:0010530Palatal myoclonus1ST3GAL3 CL E G H64873451Meier Blumberg Imahorn syndromeORPHA134010866606494
HP:0001336HP:0010531Spinal myoclonus1ST3GAL3 CL E G H64873451Meier Blumberg Imahorn syndromeORPHA134010866606494
HP:0001336HP:0012462Chin myoclonus1ST3GAL3 CL E G H64873451Meier Blumberg Imahorn syndromeORPHA134010866606494
HP:0001336HP:0025097Eyelid myoclonus1ST3GAL3 CL E G H64873451Meier Blumberg Imahorn syndromeORPHA134010866606494
HP:0001336HP:0012323Sleep myoclonus1ST3GAL3 CL E G H64873451Meier Blumberg Imahorn syndromeORPHA134010866606494
HP:0001336HP:0025357Erratic myoclonus1ST3GAL3 CL E G H64873451Meier Blumberg Imahorn syndromeORPHA134010866606494
HP:0001336HP:0003739Myoclonic spasms1ST3GAL3 CL E G H64873451Meier Blumberg Imahorn syndromeORPHA134010866606494
HP:0001336HP:0012462Chin myoclonus1ST3GAL5 CL E G H8869609056Amish infantile epilepsy syndrome609056C1836824OMIM137310872604402
HP:0001336HP:0025097Eyelid myoclonus1ST3GAL5 CL E G H8869609056Amish infantile epilepsy syndrome609056C1836824OMIM137310872604402
HP:0001336HP:0010531Spinal myoclonus1ST3GAL5 CL E G H8869609056Amish infantile epilepsy syndrome609056C1836824OMIM137310872604402
HP:0001336HP:0025357Erratic myoclonus1ST3GAL5 CL E G H8869609056Amish infantile epilepsy syndrome609056C1836824OMIM137310872604402
HP:0001336HP:0003739Myoclonic spasms1ST3GAL5 CL E G H8869609056Amish infantile epilepsy syndrome609056C1836824OMIM137310872604402
HP:0001336HP:0012323Sleep myoclonus1ST3GAL5 CL E G H8869609056Amish infantile epilepsy syndrome609056C1836824OMIM137310872604402
HP:0001336HP:0007000Morning myoclonic jerks1ST3GAL5 CL E G H8869609056Amish infantile epilepsy syndrome609056C1836824OMIM137310872604402
HP:0001336HP:0031986Polyminimyoclonus1ST3GAL5 CL E G H8869609056Amish infantile epilepsy syndrome609056C1836824OMIM137310872604402
HP:0001336HP:0040148Cortical myoclonus1ST3GAL5 CL E G H8869609056Amish infantile epilepsy syndrome609056C1836824OMIM137310872604402
HP:0001336HP:0045084Limb myoclonus1ST3GAL5 CL E G H8869609056Amish infantile epilepsy syndrome609056C1836824OMIM137310872604402
HP:0001336HP:0010530Palatal myoclonus1ST3GAL5 CL E G H8869609056Amish infantile epilepsy syndrome609056C1836824OMIM137310872604402
HP:0001336HP:0012462Chin myoclonus1STAMBP CL E G H10617614261Microcephaly-capillary malformation syndrome614261C3280296OMIM118616950606247
HP:0001336HP:0025097Eyelid myoclonus1STAMBP CL E G H10617614261Microcephaly-capillary malformation syndrome614261C3280296OMIM118616950606247
HP:0001336HP:0010531Spinal myoclonus1STAMBP CL E G H10617614261Microcephaly-capillary malformation syndrome614261C3280296OMIM118616950606247
HP:0001336HP:0025357Erratic myoclonus1STAMBP CL E G H10617614261Microcephaly-capillary malformation syndrome614261C3280296OMIM118616950606247
HP:0001336HP:0003739Myoclonic spasms1STAMBP CL E G H10617614261Microcephaly-capillary malformation syndrome614261C3280296OMIM118616950606247
HP:0001336HP:0012323Sleep myoclonus1STAMBP CL E G H10617614261Microcephaly-capillary malformation syndrome614261C3280296OMIM118616950606247
HP:0001336HP:0007000Morning myoclonic jerks1STAMBP CL E G H10617614261Microcephaly-capillary malformation syndrome614261C3280296OMIM118616950606247
HP:0001336HP:0031986Polyminimyoclonus1STAMBP CL E G H10617614261Microcephaly-capillary malformation syndrome614261C3280296OMIM118616950606247
HP:0001336HP:0040148Cortical myoclonus1STAMBP CL E G H10617614261Microcephaly-capillary malformation syndrome614261C3280296OMIM118616950606247
HP:0001336HP:0045084Limb myoclonus1STAMBP CL E G H10617614261Microcephaly-capillary malformation syndrome614261C3280296OMIM118616950606247
HP:0001336HP:0010530Palatal myoclonus1STAMBP CL E G H10617614261Microcephaly-capillary malformation syndrome614261C3280296OMIM118616950606247
HP:0001336HP:0012462Chin myoclonus1STXBP1 CL E G H68123451Meier Blumberg Imahorn syndromeORPHA1101711444602926
HP:0001336HP:0025097Eyelid myoclonus1STXBP1 CL E G H68123451Meier Blumberg Imahorn syndromeORPHA1101711444602926
HP:0001336HP:0010531Spinal myoclonus1STXBP1 CL E G H68123451Meier Blumberg Imahorn syndromeORPHA1101711444602926
HP:0001336HP:0025357Erratic myoclonus1STXBP1 CL E G H68123451Meier Blumberg Imahorn syndromeORPHA1101711444602926
HP:0001336HP:0003739Myoclonic spasms1STXBP1 CL E G H68123451Meier Blumberg Imahorn syndromeORPHA1101711444602926
HP:0001336HP:0012323Sleep myoclonus1STXBP1 CL E G H68123451Meier Blumberg Imahorn syndromeORPHA1101711444602926
HP:0001336HP:0007000Morning myoclonic jerks1STXBP1 CL E G H68123451Meier Blumberg Imahorn syndromeORPHA1101711444602926
HP:0001336HP:0031986Polyminimyoclonus1STXBP1 CL E G H68123451Meier Blumberg Imahorn syndromeORPHA1101711444602926
HP:0001336HP:0040148Cortical myoclonus1STXBP1 CL E G H68123451Meier Blumberg Imahorn syndromeORPHA1101711444602926
HP:0001336HP:0045084Limb myoclonus1STXBP1 CL E G H68123451Meier Blumberg Imahorn syndromeORPHA1101711444602926
HP:0001336HP:0010530Palatal myoclonus1STXBP1 CL E G H68123451Meier Blumberg Imahorn syndromeORPHA1101711444602926
HP:0001336HP:0010531Spinal myoclonus1TAF1 CL E G H687253351ORPHA153411535313650
HP:0001336HP:0012462Chin myoclonus1TAF1 CL E G H687253351ORPHA153411535313650
HP:0001336HP:0025097Eyelid myoclonus1TAF1 CL E G H687253351ORPHA153411535313650
HP:0001336HP:0003739Myoclonic spasms1TAF1 CL E G H687253351ORPHA153411535313650
HP:0001336HP:0012323Sleep myoclonus1TAF1 CL E G H687253351ORPHA153411535313650
HP:0001336HP:0025357Erratic myoclonus1TAF1 CL E G H687253351ORPHA153411535313650
HP:0001336HP:0007000Morning myoclonic jerks1TAF1 CL E G H687253351ORPHA153411535313650
HP:0001336HP:0031986Polyminimyoclonus1TAF1 CL E G H687253351ORPHA153411535313650
HP:0001336HP:0010530Palatal myoclonus1TAF1 CL E G H687253351ORPHA153411535313650
HP:0001336HP:0040148Cortical myoclonus1TAF1 CL E G H687253351ORPHA153411535313650
HP:0001336HP:0045084Limb myoclonus1TAF1 CL E G H687253351ORPHA153411535313650
HP:0001336HP:0007000Morning myoclonic jerks1TAF1 CL E G H6872314250Dystonia 3, torsion, X-linked314250C1839130OMIM153411535313650
HP:0001336HP:0031986Polyminimyoclonus1TAF1 CL E G H6872314250Dystonia 3, torsion, X-linked314250C1839130OMIM153411535313650
HP:0001336HP:0040148Cortical myoclonus1TAF1 CL E G H6872314250Dystonia 3, torsion, X-linked314250C1839130OMIM153411535313650
HP:0001336HP:0045084Limb myoclonus1TAF1 CL E G H6872314250Dystonia 3, torsion, X-linked314250C1839130OMIM153411535313650
HP:0001336HP:0010530Palatal myoclonus1TAF1 CL E G H6872314250Dystonia 3, torsion, X-linked314250C1839130OMIM153411535313650
HP:0001336HP:0012462Chin myoclonus1TAF1 CL E G H6872314250Dystonia 3, torsion, X-linked314250C1839130OMIM153411535313650
HP:0001336HP:0025097Eyelid myoclonus1TAF1 CL E G H6872314250Dystonia 3, torsion, X-linked314250C1839130OMIM153411535313650
HP:0001336HP:0010531Spinal myoclonus1TAF1 CL E G H6872314250Dystonia 3, torsion, X-linked314250C1839130OMIM153411535313650
HP:0001336HP:0025357Erratic myoclonus1TAF1 CL E G H6872314250Dystonia 3, torsion, X-linked314250C1839130OMIM153411535313650
HP:0001336HP:0003739Myoclonic spasms1TAF1 CL E G H6872314250Dystonia 3, torsion, X-linked314250C1839130OMIM153411535313650
HP:0001336HP:0012323Sleep myoclonus1TAF1 CL E G H6872314250Dystonia 3, torsion, X-linked314250C1839130OMIM153411535313650
HP:0001336HP:0031986Polyminimyoclonus1TBC1D24 CL E G H57465352582ORPHA189329203613577
HP:0001336HP:0012462Chin myoclonus1TBC1D24 CL E G H57465352596ORPHA189329203613577
HP:0001336HP:0025097Eyelid myoclonus1TBC1D24 CL E G H57465352596ORPHA189329203613577
HP:0001336HP:0007000Morning myoclonic jerks1TBC1D24 CL E G H57465352582ORPHA189329203613577
HP:0001336HP:0010531Spinal myoclonus1TBC1D24 CL E G H57465352596ORPHA189329203613577
HP:0001336HP:0010530Palatal myoclonus1TBC1D24 CL E G H57465352582ORPHA189329203613577
HP:0001336HP:0025357Erratic myoclonus1TBC1D24 CL E G H57465352596ORPHA189329203613577
HP:0001336HP:0040148Cortical myoclonus1TBC1D24 CL E G H57465352582ORPHA189329203613577
HP:0001336HP:0003739Myoclonic spasms1TBC1D24 CL E G H57465352596ORPHA189329203613577
HP:0001336HP:0045084Limb myoclonus1TBC1D24 CL E G H57465352582ORPHA189329203613577
HP:0001336HP:0012323Sleep myoclonus1TBC1D24 CL E G H57465352596ORPHA189329203613577
HP:0001336HP:0010531Spinal myoclonus1TBC1D24 CL E G H57465352582ORPHA189329203613577
HP:0001336HP:0012462Chin myoclonus1TBC1D24 CL E G H57465352582ORPHA189329203613577
HP:0001336HP:0007000Morning myoclonic jerks1TBC1D24 CL E G H57465352596ORPHA189329203613577
HP:0001336HP:0025097Eyelid myoclonus1TBC1D24 CL E G H57465352582ORPHA189329203613577
HP:0001336HP:0031986Polyminimyoclonus1TBC1D24 CL E G H57465352596ORPHA189329203613577
HP:0001336HP:0012323Sleep myoclonus1TBC1D24 CL E G H57465352582ORPHA189329203613577
HP:0001336HP:0040148Cortical myoclonus1TBC1D24 CL E G H57465352596ORPHA189329203613577
HP:0001336HP:0045084Limb myoclonus1TBC1D24 CL E G H57465352596ORPHA189329203613577
HP:0001336HP:0025357Erratic myoclonus1TBC1D24 CL E G H57465352582ORPHA189329203613577
HP:0001336HP:0010530Palatal myoclonus1TBC1D24 CL E G H57465352596ORPHA189329203613577
HP:0001336HP:0003739Myoclonic spasms1TBC1D24 CL E G H57465352582ORPHA189329203613577
HP:0001336HP:0031986Polyminimyoclonus1TBC1D24 CL E G H57465615338Early infantile epileptic encephalopathy 16615338C3809173OMIM189329203613577
HP:0001336HP:0007000Morning myoclonic jerks1TBC1D24 CL E G H57465615338Early infantile epileptic encephalopathy 16615338C3809173OMIM189329203613577
HP:0001336HP:0010530Palatal myoclonus1TBC1D24 CL E G H57465615338Early infantile epileptic encephalopathy 16615338C3809173OMIM189329203613577
HP:0001336HP:0040148Cortical myoclonus1TBC1D24 CL E G H57465615338Early infantile epileptic encephalopathy 16615338C3809173OMIM189329203613577
HP:0001336HP:0045084Limb myoclonus1TBC1D24 CL E G H57465615338Early infantile epileptic encephalopathy 16615338C3809173OMIM189329203613577
HP:0001336HP:0010531Spinal myoclonus1TBC1D24 CL E G H57465615338Early infantile epileptic encephalopathy 16615338C3809173OMIM189329203613577
HP:0001336HP:0012462Chin myoclonus1TBC1D24 CL E G H57465615338Early infantile epileptic encephalopathy 16615338C3809173OMIM189329203613577
HP:0001336HP:0025097Eyelid myoclonus1TBC1D24 CL E G H57465615338Early infantile epileptic encephalopathy 16615338C3809173OMIM189329203613577
HP:0001336HP:0012323Sleep myoclonus1TBC1D24 CL E G H57465615338Early infantile epileptic encephalopathy 16615338C3809173OMIM189329203613577
HP:0001336HP:0025357Erratic myoclonus1TBC1D24 CL E G H57465615338Early infantile epileptic encephalopathy 16615338C3809173OMIM189329203613577
HP:0001336HP:0003739Myoclonic spasms1TBC1D24 CL E G H57465615338Early infantile epileptic encephalopathy 16615338C3809173OMIM189329203613577
HP:0001336HP:0012462Chin myoclonus1TBP CL E G H6908607136Spinocerebellar ataxia 17607136C1846707OMIM113111588600075
HP:0001336HP:0025097Eyelid myoclonus1TBP CL E G H6908607136Spinocerebellar ataxia 17607136C1846707OMIM113111588600075
HP:0001336HP:0010531Spinal myoclonus1TBP CL E G H6908607136Spinocerebellar ataxia 17607136C1846707OMIM113111588600075
HP:0001336HP:0025357Erratic myoclonus1TBP CL E G H6908607136Spinocerebellar ataxia 17607136C1846707OMIM113111588600075
HP:0001336HP:0003739Myoclonic spasms1TBP CL E G H6908607136Spinocerebellar ataxia 17607136C1846707OMIM113111588600075
HP:0001336HP:0012323Sleep myoclonus1TBP CL E G H6908607136Spinocerebellar ataxia 17607136C1846707OMIM113111588600075
HP:0001336HP:0007000Morning myoclonic jerks1TBP CL E G H6908607136Spinocerebellar ataxia 17607136C1846707OMIM113111588600075
HP:0001336HP:0031986Polyminimyoclonus1TBP CL E G H6908607136Spinocerebellar ataxia 17607136C1846707OMIM113111588600075
HP:0001336HP:0040148Cortical myoclonus1TBP CL E G H6908607136Spinocerebellar ataxia 17607136C1846707OMIM113111588600075
HP:0001336HP:0045084Limb myoclonus1TBP CL E G H6908607136Spinocerebellar ataxia 17607136C1846707OMIM113111588600075
HP:0001336HP:0010530Palatal myoclonus1TBP CL E G H6908607136Spinocerebellar ataxia 17607136C1846707OMIM113111588600075
HP:0001336HP:0007000Morning myoclonic jerks1TH CL E G H7054101150ORPHA196711782191290
HP:0001336HP:0031986Polyminimyoclonus1TH CL E G H7054101150ORPHA196711782191290
HP:0001336HP:0040148Cortical myoclonus1TH CL E G H7054101150ORPHA196711782191290
HP:0001336HP:0045084Limb myoclonus1TH CL E G H7054101150ORPHA196711782191290
HP:0001336HP:0010530Palatal myoclonus1TH CL E G H7054101150ORPHA196711782191290
HP:0001336HP:0025097Eyelid myoclonus1TH CL E G H7054101150ORPHA196711782191290
HP:0001336HP:0010531Spinal myoclonus1TH CL E G H7054101150ORPHA196711782191290
HP:0001336HP:0012462Chin myoclonus1TH CL E G H7054101150ORPHA196711782191290
HP:0001336HP:0025357Erratic myoclonus1TH CL E G H7054101150ORPHA196711782191290
HP:0001336HP:0003739Myoclonic spasms1TH CL E G H7054101150ORPHA196711782191290
HP:0001336HP:0012323Sleep myoclonus1TH CL E G H7054101150ORPHA196711782191290
HP:0001336HP:0007000Morning myoclonic jerks1TMEM231 CL E G H795832752ORPHA146337234614949
HP:0001336HP:0031986Polyminimyoclonus1TMEM231 CL E G H795832752ORPHA146337234614949
HP:0001336HP:0045084Limb myoclonus1TMEM231 CL E G H795832752ORPHA146337234614949
HP:0001336HP:0010530Palatal myoclonus1TMEM231 CL E G H795832752ORPHA146337234614949
HP:0001336HP:0040148Cortical myoclonus1TMEM231 CL E G H795832752ORPHA146337234614949
HP:0001336HP:0025097Eyelid myoclonus1TMEM231 CL E G H795832752ORPHA146337234614949
HP:0001336HP:0010531Spinal myoclonus1TMEM231 CL E G H795832752ORPHA146337234614949
HP:0001336HP:0012462Chin myoclonus1TMEM231 CL E G H795832752ORPHA146337234614949
HP:0001336HP:0025357Erratic myoclonus1TMEM231 CL E G H795832752ORPHA146337234614949
HP:0001336HP:0003739Myoclonic spasms1TMEM231 CL E G H795832752ORPHA146337234614949
HP:0001336HP:0012323Sleep myoclonus1TMEM231 CL E G H795832752ORPHA146337234614949
HP:0001336HP:0007000Morning myoclonic jerks1TOE1 CL E G H114034614969Pontocerebellar hypoplasia, type 7614969C3554226OMIM127215954613931
HP:0001336HP:0031986Polyminimyoclonus1TOE1 CL E G H114034614969Pontocerebellar hypoplasia, type 7614969C3554226OMIM127215954613931
HP:0001336HP:0040148Cortical myoclonus1TOE1 CL E G H114034614969Pontocerebellar hypoplasia, type 7614969C3554226OMIM127215954613931
HP:0001336HP:0045084Limb myoclonus1TOE1 CL E G H114034614969Pontocerebellar hypoplasia, type 7614969C3554226OMIM127215954613931
HP:0001336HP:0010530Palatal myoclonus1TOE1 CL E G H114034614969Pontocerebellar hypoplasia, type 7614969C3554226OMIM127215954613931
HP:0001336HP:0012462Chin myoclonus1TOE1 CL E G H114034614969Pontocerebellar hypoplasia, type 7614969C3554226OMIM127215954613931
HP:0001336HP:0025097Eyelid myoclonus1TOE1 CL E G H114034614969Pontocerebellar hypoplasia, type 7614969C3554226OMIM127215954613931
HP:0001336HP:0010531Spinal myoclonus1TOE1 CL E G H114034614969Pontocerebellar hypoplasia, type 7614969C3554226OMIM127215954613931
HP:0001336HP:0025357Erratic myoclonus1TOE1 CL E G H114034614969Pontocerebellar hypoplasia, type 7614969C3554226OMIM127215954613931
HP:0001336HP:0003739Myoclonic spasms1TOE1 CL E G H114034614969Pontocerebellar hypoplasia, type 7614969C3554226OMIM127215954613931
HP:0001336HP:0012323Sleep myoclonus1TOE1 CL E G H114034614969Pontocerebellar hypoplasia, type 7614969C3554226OMIM127215954613931
HP:0001336HP:0045084Limb myoclonus1TOMM40 CL E G H104521020ORPHA12918001608061
HP:0001336HP:0010530Palatal myoclonus1TOMM40 CL E G H104521020ORPHA12918001608061
HP:0001336HP:0040148Cortical myoclonus1TOMM40 CL E G H104521020ORPHA12918001608061
HP:0001336HP:0025097Eyelid myoclonus1TOMM40 CL E G H104521020ORPHA12918001608061
HP:0001336HP:0010531Spinal myoclonus1TOMM40 CL E G H104521020ORPHA12918001608061
HP:0001336HP:0012462Chin myoclonus1TOMM40 CL E G H104521020ORPHA12918001608061
HP:0001336HP:0025357Erratic myoclonus1TOMM40 CL E G H104521020ORPHA12918001608061
HP:0001336HP:0003739Myoclonic spasms1TOMM40 CL E G H104521020ORPHA12918001608061
HP:0001336HP:0012323Sleep myoclonus1TOMM40 CL E G H104521020ORPHA12918001608061
HP:0001336HP:0007000Morning myoclonic jerks1TOMM40 CL E G H104521020ORPHA12918001608061
HP:0001336HP:0031986Polyminimyoclonus1TOMM40 CL E G H104521020ORPHA12918001608061
HP:0001336HP:0012462Chin myoclonus1TPP1 CL E G H1200204500Ceroid lipofuscinosis neuronal 2204500C1876161OMIM110232073607998
HP:0001336HP:0025097Eyelid myoclonus1TPP1 CL E G H1200204500Ceroid lipofuscinosis neuronal 2204500C1876161OMIM110232073607998
HP:0001336HP:0010531Spinal myoclonus1TPP1 CL E G H1200204500Ceroid lipofuscinosis neuronal 2204500C1876161OMIM110232073607998
HP:0001336HP:0025357Erratic myoclonus1TPP1 CL E G H1200204500Ceroid lipofuscinosis neuronal 2204500C1876161OMIM110232073607998
HP:0001336HP:0003739Myoclonic spasms1TPP1 CL E G H1200204500Ceroid lipofuscinosis neuronal 2204500C1876161OMIM110232073607998
HP:0001336HP:0012323Sleep myoclonus1TPP1 CL E G H1200204500Ceroid lipofuscinosis neuronal 2204500C1876161OMIM110232073607998
HP:0001336HP:0007000Morning myoclonic jerks1TPP1 CL E G H1200204500Ceroid lipofuscinosis neuronal 2204500C1876161OMIM110232073607998
HP:0001336HP:0031986Polyminimyoclonus1TPP1 CL E G H1200204500Ceroid lipofuscinosis neuronal 2204500C1876161OMIM110232073607998
HP:0001336HP:0040148Cortical myoclonus1TPP1 CL E G H1200204500Ceroid lipofuscinosis neuronal 2204500C1876161OMIM110232073607998
HP:0001336HP:0045084Limb myoclonus1TPP1 CL E G H1200204500Ceroid lipofuscinosis neuronal 2204500C1876161OMIM110232073607998
HP:0001336HP:0010530Palatal myoclonus1TPP1 CL E G H1200204500Ceroid lipofuscinosis neuronal 2204500C1876161OMIM110232073607998
HP:0001336HP:0045084Limb myoclonus1TRAK1 CL E G H22906618201EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 68618201OMIM120829947608112
HP:0001336HP:0010530Palatal myoclonus1TRAK1 CL E G H22906618201EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 68618201OMIM120829947608112
HP:0001336HP:0040148Cortical myoclonus1TRAK1 CL E G H22906618201EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 68618201OMIM120829947608112
HP:0001336HP:0025097Eyelid myoclonus1TRAK1 CL E G H22906618201EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 68618201OMIM120829947608112
HP:0001336HP:0010531Spinal myoclonus1TRAK1 CL E G H22906618201EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 68618201OMIM120829947608112
HP:0001336HP:0012462Chin myoclonus1TRAK1 CL E G H22906618201EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 68618201OMIM120829947608112
HP:0001336HP:0003739Myoclonic spasms1TRAK1 CL E G H22906618201EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 68618201OMIM120829947608112
HP:0001336HP:0012323Sleep myoclonus1TRAK1 CL E G H22906618201EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 68618201OMIM120829947608112
HP:0001336HP:0025357Erratic myoclonus1TRAK1 CL E G H22906618201EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 68618201OMIM120829947608112
HP:0001336HP:0007000Morning myoclonic jerks1TRAK1 CL E G H22906618201EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 68618201OMIM120829947608112
HP:0001336HP:0031986Polyminimyoclonus1TRAK1 CL E G H22906618201EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 68618201OMIM120829947608112
HP:0001336HP:0012323Sleep myoclonus1TRAPPC12 CL E G H51112617669ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND SPASTICITY617669C4540059OMIM120224284614139
HP:0001336HP:0025357Erratic myoclonus1TRAPPC12 CL E G H51112617669ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND SPASTICITY617669C4540059OMIM120224284614139
HP:0001336HP:0003739Myoclonic spasms1TRAPPC12 CL E G H51112617669ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND SPASTICITY617669C4540059OMIM120224284614139
HP:0001336HP:0031986Polyminimyoclonus1TRAPPC12 CL E G H51112617669ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND SPASTICITY617669C4540059OMIM120224284614139
HP:0001336HP:0007000Morning myoclonic jerks1TRAPPC12 CL E G H51112617669ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND SPASTICITY617669C4540059OMIM120224284614139
HP:0001336HP:0010530Palatal myoclonus1TRAPPC12 CL E G H51112617669ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND SPASTICITY617669C4540059OMIM120224284614139
HP:0001336HP:0040148Cortical myoclonus1TRAPPC12 CL E G H51112617669ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND SPASTICITY617669C4540059OMIM120224284614139
HP:0001336HP:0045084Limb myoclonus1TRAPPC12 CL E G H51112617669ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND SPASTICITY617669C4540059OMIM120224284614139
HP:0001336HP:0010531Spinal myoclonus1TRAPPC12 CL E G H51112617669ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND SPASTICITY617669C4540059OMIM120224284614139
HP:0001336HP:0012462Chin myoclonus1TRAPPC12 CL E G H51112617669ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND SPASTICITY617669C4540059OMIM120224284614139
HP:0001336HP:0025097Eyelid myoclonus1TRAPPC12 CL E G H51112617669ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND SPASTICITY617669C4540059OMIM120224284614139
HP:0001336HP:0003739Myoclonic spasms1TREM2 CL E G H542091020ORPHA115417761605086
HP:0001336HP:0012323Sleep myoclonus1TREM2 CL E G H542091020ORPHA115417761605086
HP:0001336HP:0025357Erratic myoclonus1TREM2 CL E G H542091020ORPHA115417761605086
HP:0001336HP:0031986Polyminimyoclonus1TREM2 CL E G H542091020ORPHA115417761605086
HP:0001336HP:0007000Morning myoclonic jerks1TREM2 CL E G H542091020ORPHA115417761605086
HP:0001336HP:0010530Palatal myoclonus1TREM2 CL E G H542091020ORPHA115417761605086
HP:0001336HP:0040148Cortical myoclonus1TREM2 CL E G H542091020ORPHA115417761605086
HP:0001336HP:0045084Limb myoclonus1TREM2 CL E G H542091020ORPHA115417761605086
HP:0001336HP:0010531Spinal myoclonus1TREM2 CL E G H542091020ORPHA115417761605086
HP:0001336HP:0012462Chin myoclonus1TREM2 CL E G H542091020ORPHA115417761605086
HP:0001336HP:0025097Eyelid myoclonus1TREM2 CL E G H542091020ORPHA115417761605086
HP:0001336HP:0012462Chin myoclonus1TSEN54 CL E G H283989225753Pontocerebellar hypoplasia type 4225753C1856974OMIM141427561608755
HP:0001336HP:0025097Eyelid myoclonus1TSEN54 CL E G H283989225753Pontocerebellar hypoplasia type 4225753C1856974OMIM141427561608755
HP:0001336HP:0010531Spinal myoclonus1TSEN54 CL E G H283989225753Pontocerebellar hypoplasia type 4225753C1856974OMIM141427561608755
HP:0001336HP:0025357Erratic myoclonus1TSEN54 CL E G H283989225753Pontocerebellar hypoplasia type 4225753C1856974OMIM141427561608755
HP:0001336HP:0003739Myoclonic spasms1TSEN54 CL E G H283989225753Pontocerebellar hypoplasia type 4225753C1856974OMIM141427561608755
HP:0001336HP:0012323Sleep myoclonus1TSEN54 CL E G H283989225753Pontocerebellar hypoplasia type 4225753C1856974OMIM141427561608755
HP:0001336HP:0007000Morning myoclonic jerks1TSEN54 CL E G H283989225753Pontocerebellar hypoplasia type 4225753C1856974OMIM141427561608755
HP:0001336HP:0031986Polyminimyoclonus1TSEN54 CL E G H283989225753Pontocerebellar hypoplasia type 4225753C1856974OMIM141427561608755
HP:0001336HP:0040148Cortical myoclonus1TSEN54 CL E G H283989225753Pontocerebellar hypoplasia type 4225753C1856974OMIM141427561608755
HP:0001336HP:0045084Limb myoclonus1TSEN54 CL E G H283989225753Pontocerebellar hypoplasia type 4225753C1856974OMIM141427561608755
HP:0001336HP:0010530Palatal myoclonus1TSEN54 CL E G H283989225753Pontocerebellar hypoplasia type 4225753C1856974OMIM141427561608755
HP:0001336HP:0012462Chin myoclonus1TSPYL1 CL E G H7259168593ORPHA17212382604714
HP:0001336HP:0025097Eyelid myoclonus1TSPYL1 CL E G H7259168593ORPHA17212382604714
HP:0001336HP:0010531Spinal myoclonus1TSPYL1 CL E G H7259168593ORPHA17212382604714
HP:0001336HP:0025357Erratic myoclonus1TSPYL1 CL E G H7259168593ORPHA17212382604714
HP:0001336HP:0003739Myoclonic spasms1TSPYL1 CL E G H7259168593ORPHA17212382604714
HP:0001336HP:0012323Sleep myoclonus1TSPYL1 CL E G H7259168593ORPHA17212382604714
HP:0001336HP:0007000Morning myoclonic jerks1TSPYL1 CL E G H7259168593ORPHA17212382604714
HP:0001336HP:0031986Polyminimyoclonus1TSPYL1 CL E G H7259168593ORPHA17212382604714
HP:0001336HP:0040148Cortical myoclonus1TSPYL1 CL E G H7259168593ORPHA17212382604714
HP:0001336HP:0045084Limb myoclonus1TSPYL1 CL E G H7259168593ORPHA17212382604714
HP:0001336HP:0010530Palatal myoclonus1TSPYL1 CL E G H7259168593ORPHA17212382604714
HP:0001336HP:0012462Chin myoclonus1TWNK CL E G H5665270595ORPHA14501160606075
HP:0001336HP:0025097Eyelid myoclonus1TWNK CL E G H5665270595ORPHA14501160606075
HP:0001336HP:0010531Spinal myoclonus1TWNK CL E G H5665270595ORPHA14501160606075
HP:0001336HP:0025357Erratic myoclonus1TWNK CL E G H5665270595ORPHA14501160606075
HP:0001336HP:0003739Myoclonic spasms1TWNK CL E G H5665270595ORPHA14501160606075
HP:0001336HP:0012323Sleep myoclonus1TWNK CL E G H5665270595ORPHA14501160606075
HP:0001336HP:0007000Morning myoclonic jerks1TWNK CL E G H5665270595ORPHA14501160606075
HP:0001336HP:0031986Polyminimyoclonus1TWNK CL E G H5665270595ORPHA14501160606075
HP:0001336HP:0040148Cortical myoclonus1TWNK CL E G H5665270595ORPHA14501160606075
HP:0001336HP:0045084Limb myoclonus1TWNK CL E G H5665270595ORPHA14501160606075
HP:0001336HP:0010530Palatal myoclonus1TWNK CL E G H5665270595ORPHA14501160606075
HP:0001336HP:0012462Chin myoclonus1TWNK CL E G H56652607459Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis607459C1843851OMIM14501160606075
HP:0001336HP:0025097Eyelid myoclonus1TWNK CL E G H56652607459Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis607459C1843851OMIM14501160606075
HP:0001336HP:0010531Spinal myoclonus1TWNK CL E G H56652607459Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis607459C1843851OMIM14501160606075
HP:0001336HP:0025357Erratic myoclonus1TWNK CL E G H56652607459Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis607459C1843851OMIM14501160606075
HP:0001336HP:0003739Myoclonic spasms1TWNK CL E G H56652607459Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis607459C1843851OMIM14501160606075
HP:0001336HP:0012323Sleep myoclonus1TWNK CL E G H56652607459Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis607459C1843851OMIM14501160606075
HP:0001336HP:0007000Morning myoclonic jerks1TWNK CL E G H56652607459Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis607459C1843851OMIM14501160606075
HP:0001336HP:0031986Polyminimyoclonus1TWNK CL E G H56652607459Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis607459C1843851OMIM14501160606075
HP:0001336HP:0040148Cortical myoclonus1TWNK CL E G H56652607459Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis607459C1843851OMIM14501160606075
HP:0001336HP:0045084Limb myoclonus1TWNK CL E G H56652607459Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis607459C1843851OMIM14501160606075
HP:0001336HP:0010530Palatal myoclonus1TWNK CL E G H56652607459Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis607459C1843851OMIM14501160606075
HP:0001336HP:0031986Polyminimyoclonus1TYROBP CL E G H7305221770Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy221770C1857316OMIM111012449604142
HP:0001336HP:0007000Morning myoclonic jerks1TYROBP CL E G H7305221770Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy221770C1857316OMIM111012449604142
HP:0001336HP:0040148Cortical myoclonus1TYROBP CL E G H7305221770Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy221770C1857316OMIM111012449604142
HP:0001336HP:0045084Limb myoclonus1TYROBP CL E G H7305221770Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy221770C1857316OMIM111012449604142
HP:0001336HP:0010530Palatal myoclonus1TYROBP CL E G H7305221770Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy221770C1857316OMIM111012449604142
HP:0001336HP:0010531Spinal myoclonus1TYROBP CL E G H7305221770Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy221770C1857316OMIM111012449604142
HP:0001336HP:0012462Chin myoclonus1TYROBP CL E G H7305221770Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy221770C1857316OMIM111012449604142
HP:0001336HP:0025097Eyelid myoclonus1TYROBP CL E G H7305221770Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy221770C1857316OMIM111012449604142
HP:0001336HP:0012323Sleep myoclonus1TYROBP CL E G H7305221770Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy221770C1857316OMIM111012449604142
HP:0001336HP:0025357Erratic myoclonus1TYROBP CL E G H7305221770Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy221770C1857316OMIM111012449604142
HP:0001336HP:0003739Myoclonic spasms1TYROBP CL E G H7305221770Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy221770C1857316OMIM111012449604142
HP:0001336HP:0007000Morning myoclonic jerks1VPS13D CL E G H55187607317Spinocerebellar ataxia autosomal recessive 4607317C1846492OMIM1103423595608877
HP:0001336HP:0031986Polyminimyoclonus1VPS13D CL E G H55187607317Spinocerebellar ataxia autosomal recessive 4607317C1846492OMIM1103423595608877
HP:0001336HP:0045084Limb myoclonus1VPS13D CL E G H55187607317Spinocerebellar ataxia autosomal recessive 4607317C1846492OMIM1103423595608877
HP:0001336HP:0010530Palatal myoclonus1VPS13D CL E G H55187607317Spinocerebellar ataxia autosomal recessive 4607317C1846492OMIM1103423595608877
HP:0001336HP:0040148Cortical myoclonus1VPS13D CL E G H55187607317Spinocerebellar ataxia autosomal recessive 4607317C1846492OMIM1103423595608877
HP:0001336HP:0025097Eyelid myoclonus1VPS13D CL E G H55187607317Spinocerebellar ataxia autosomal recessive 4607317C1846492OMIM1103423595608877
HP:0001336HP:0010531Spinal myoclonus1VPS13D CL E G H55187607317Spinocerebellar ataxia autosomal recessive 4607317C1846492OMIM1103423595608877
HP:0001336HP:0012462Chin myoclonus1VPS13D CL E G H55187607317Spinocerebellar ataxia autosomal recessive 4607317C1846492OMIM1103423595608877
HP:0001336HP:0003739Myoclonic spasms1VPS13D CL E G H55187607317Spinocerebellar ataxia autosomal recessive 4607317C1846492OMIM1103423595608877
HP:0001336HP:0012323Sleep myoclonus1VPS13D CL E G H55187607317Spinocerebellar ataxia autosomal recessive 4607317C1846492OMIM1103423595608877
HP:0001336HP:0025357Erratic myoclonus1VPS13D CL E G H55187607317Spinocerebellar ataxia autosomal recessive 4607317C1846492OMIM1103423595608877
HP:0001336HP:0010531Spinal myoclonus1ZNHIT3 CL E G H9326260565PEHO syndrome260565C1850055OMIM113612309604500
HP:0001336HP:0012462Chin myoclonus1ZNHIT3 CL E G H9326260565PEHO syndrome260565C1850055OMIM113612309604500
HP:0001336HP:0025097Eyelid myoclonus1ZNHIT3 CL E G H9326260565PEHO syndrome260565C1850055OMIM113612309604500
HP:0001336HP:0012323Sleep myoclonus1ZNHIT3 CL E G H9326260565PEHO syndrome260565C1850055OMIM113612309604500
HP:0001336HP:0025357Erratic myoclonus1ZNHIT3 CL E G H9326260565PEHO syndrome260565C1850055OMIM113612309604500
HP:0001336HP:0003739Myoclonic spasms1ZNHIT3 CL E G H9326260565PEHO syndrome260565C1850055OMIM113612309604500
HP:0001336HP:0031986Polyminimyoclonus1ZNHIT3 CL E G H9326260565PEHO syndrome260565C1850055OMIM113612309604500
HP:0001336HP:0007000Morning myoclonic jerks1ZNHIT3 CL E G H9326260565PEHO syndrome260565C1850055OMIM113612309604500
HP:0001336HP:0040148Cortical myoclonus1ZNHIT3 CL E G H9326260565PEHO syndrome260565C1850055OMIM113612309604500
HP:0001336HP:0045084Limb myoclonus1ZNHIT3 CL E G H9326260565PEHO syndrome260565C1850055OMIM113612309604500
HP:0001336HP:0010530Palatal myoclonus1ZNHIT3 CL E G H9326260565PEHO syndrome260565C1850055OMIM113612309604500
HP:0001336HP:0033054Myoclonic tremor2ABCA7 CL E G H103471020ORPHA126937605414
HP:0001336HP:0010828Hemifacial spasm2ABCA7 CL E G H103471020ORPHA126937605414
HP:0001336HP:0010828Hemifacial spasm2ADCY5 CL E G H111324588ORPHA1653236600293
HP:0001336HP:0033054Myoclonic tremor2ADCY5 CL E G H111324588ORPHA1653236600293
HP:0001336HP:0033054Myoclonic tremor2ADRA2B CL E G H15186814ORPHA192282104260
HP:0001336HP:0010828Hemifacial spasm2ADRA2B CL E G H15186814ORPHA192282104260
HP:0001336HP:0010828Hemifacial spasm2ADRA2B CL E G H151607876Epilepsy, familial adult myoclonic 2607876C1842852OMIM192282104260
HP:0001336HP:0033054Myoclonic tremor2ADRA2B CL E G H151607876Epilepsy, familial adult myoclonic 2607876C1842852OMIM192282104260
HP:0001336HP:0010828Hemifacial spasm2ADSL CL E G H158103050Adenylosuccinate lyase deficiency103050C0268126OMIM1808291608222
HP:0001336HP:0033054Myoclonic tremor2ADSL CL E G H158103050Adenylosuccinate lyase deficiency103050C0268126OMIM1808291608222
HP:0001336HP:0033054Myoclonic tremor2AFG3L2 CL E G H10939313772ORPHA1480315604581
HP:0001336HP:0010828Hemifacial spasm2AFG3L2 CL E G H10939313772ORPHA1480315604581
HP:0001336HP:0033054Myoclonic tremor2AFG3L2 CL E G H10939614487Spastic ataxia 5, autosomal recessive614487C3280977OMIM1480315604581
HP:0001336HP:0010828Hemifacial spasm2AFG3L2 CL E G H10939614487Spastic ataxia 5, autosomal recessive614487C3280977OMIM1480315604581
HP:0001336HP:0033054Myoclonic tremor2AMT CL E G H275605899Non-ketotic hyperglycinemia605899C0751748OMIM1591473238310
HP:0001336HP:0010828Hemifacial spasm2AMT CL E G H275605899Non-ketotic hyperglycinemia605899C0751748OMIM1591473238310
HP:0001336HP:0033054Myoclonic tremor2AP5Z1 CL E G H9907306511ORPHA1102122197613653
HP:0001336HP:0010828Hemifacial spasm2AP5Z1 CL E G H9907306511ORPHA1102122197613653
HP:0001336HP:0033054Myoclonic tremor2APP CL E G H351324708ORPHA1506620104760
HP:0001336HP:0010828Hemifacial spasm2APP CL E G H3511020ORPHA1506620104760
HP:0001336HP:0010828Hemifacial spasm2APP CL E G H351324708ORPHA1506620104760
HP:0001336HP:0033054Myoclonic tremor2APP CL E G H3511020ORPHA1506620104760
HP:0001336HP:0033054Myoclonic tremor2ARX CL E G H1703023451Meier Blumberg Imahorn syndromeORPHA181018060300382
HP:0001336HP:0010828Hemifacial spasm2ARX CL E G H1703023451Meier Blumberg Imahorn syndromeORPHA181018060300382
HP:0001336HP:0033054Myoclonic tremor2ASAH1 CL E G H427159950Jankovic Rivera syndrome159950C1834569OMIM1913735613468
HP:0001336HP:0010828Hemifacial spasm2ASAH1 CL E G H427159950Jankovic Rivera syndrome159950C1834569OMIM1913735613468
HP:0001336HP:0033054Myoclonic tremor2ATAD1 CL E G H84896618011HYPEREKPLEXIA 4618011CN248518OMIM118325903614452
HP:0001336HP:0010828Hemifacial spasm2ATAD1 CL E G H84896618011HYPEREKPLEXIA 4618011CN248518OMIM118325903614452
HP:0001336HP:0010828Hemifacial spasm2ATAD1 CL E G H848963197Lateral body wall defectORPHA118325903614452
HP:0001336HP:0033054Myoclonic tremor2ATAD1 CL E G H848963197Lateral body wall defectORPHA118325903614452
HP:0001336HP:0033054Myoclonic tremor2ATM CL E G H472208900Ataxia-telangiectasia syndrome208900C0004135OMIM114692795607585
HP:0001336HP:0010828Hemifacial spasm2ATM CL E G H472208900Ataxia-telangiectasia syndrome208900C0004135OMIM114692795607585
HP:0001336HP:0010828Hemifacial spasm2ATN1 CL E G H1822101ORPHA12133033607462
HP:0001336HP:0033054Myoclonic tremor2ATN1 CL E G H1822101ORPHA12133033607462
HP:0001336HP:0010828Hemifacial spasm2ATP13A2 CL E G H23400314632ORPHA197430213610513
HP:0001336HP:0010828Hemifacial spasm2ATP13A2 CL E G H23400306674ORPHA197430213610513
HP:0001336HP:0033054Myoclonic tremor2ATP13A2 CL E G H23400306674ORPHA197430213610513
HP:0001336HP:0033054Myoclonic tremor2ATP13A2 CL E G H23400314632ORPHA197430213610513
HP:0001336HP:0010828Hemifacial spasm2ATP13A2 CL E G H23400606693Parkinson disease 9606693C1847640OMIM197430213610513
HP:0001336HP:0033054Myoclonic tremor2ATP13A2 CL E G H23400606693Parkinson disease 9606693C1847640OMIM197430213610513
HP:0001336HP:0010828Hemifacial spasm2ATXN2 CL E G H6311183090Spinocerebellar ataxia 2183090C0752121OMIM111510555601517
HP:0001336HP:0033054Myoclonic tremor2ATXN2 CL E G H6311183090Spinocerebellar ataxia 2183090C0752121OMIM111510555601517
HP:0001336HP:0033054Myoclonic tremor2BSCL2 CL E G H26580363400ORPHA151015832606158
HP:0001336HP:0010828Hemifacial spasm2BSCL2 CL E G H26580363400ORPHA151015832606158
HP:0001336HP:0033054Myoclonic tremor2BSCL2 CL E G H26580615924Encephalopathy, progressive, with or without lipodystrophy615924C4014700OMIM151015832606158
HP:0001336HP:0010828Hemifacial spasm2BSCL2 CL E G H26580615924Encephalopathy, progressive, with or without lipodystrophy615924C4014700OMIM151015832606158
HP:0001336HP:0033054Myoclonic tremor2CACNA1B CL E G H774614860Dystonia 23614860C3538999OMIM112881389601012
HP:0001336HP:0010828Hemifacial spasm2CACNA1B CL E G H774614860Dystonia 23614860C3538999OMIM112881389601012
HP:0001336HP:0010828Hemifacial spasm2CACNA1E CL E G H777618285618285618285OMIM115831392601013
HP:0001336HP:0033054Myoclonic tremor2CACNA1E CL E G H777618285618285618285OMIM115831392601013
HP:0001336HP:0010828Hemifacial spasm2CARS2 CL E G H79587616672Combined oxidative phosphorylation deficiency 27616672C4225251OMIM182525695612800
HP:0001336HP:0033054Myoclonic tremor2CARS2 CL E G H79587616672Combined oxidative phosphorylation deficiency 27616672C4225251OMIM182525695612800
HP:0001336HP:0010828Hemifacial spasm2CCDC88A CL E G H55704617507PEHO-like syndrome617507C1850056OMIM183825523609736
HP:0001336HP:0033054Myoclonic tremor2CCDC88A CL E G H55704617507PEHO-like syndrome617507C1850056OMIM183825523609736
HP:0001336HP:0010828Hemifacial spasm2CDKL5 CL E G H6792300672Early infantile epileptic encephalopathy 2300672C1839333OMIM1173811411300203
HP:0001336HP:0033054Myoclonic tremor2CDKL5 CL E G H6792300672Early infantile epileptic encephalopathy 2300672C1839333OMIM1173811411300203
HP:0001336HP:0010828Hemifacial spasm2CDKL5 CL E G H67923451Meier Blumberg Imahorn syndromeORPHA1173811411300203
HP:0001336HP:0033054Myoclonic tremor2CDKL5 CL E G H67923451Meier Blumberg Imahorn syndromeORPHA1173811411300203
HP:0001336HP:0010828Hemifacial spasm2CERS1 CL E G H10715616230Epilepsy, progressive myoclonic 8616230C4015619OMIM141114253606919
HP:0001336HP:0033054Myoclonic tremor2CERS1 CL E G H10715616230Epilepsy, progressive myoclonic 8616230C4015619OMIM141114253606919
HP:0001336HP:0033054Myoclonic tremor2CHD2 CL E G H11062382ORPHA118381917602119
HP:0001336HP:0010828Hemifacial spasm2CHD2 CL E G H11062382ORPHA118381917602119
HP:0001336HP:0033054Myoclonic tremor2CHMP2B CL E G H25978600795Frontotemporal Dementia, Chromosome 3-Linked600795C1833296OMIM116024537609512
HP:0001336HP:0010828Hemifacial spasm2CHMP2B CL E G H25978600795Frontotemporal Dementia, Chromosome 3-Linked600795C1833296OMIM116024537609512
HP:0001336HP:0033054Myoclonic tremor2CIZ1 CL E G H25792420492ORPHA135216744611420
HP:0001336HP:0010828Hemifacial spasm2CIZ1 CL E G H25792420492ORPHA135216744611420
HP:0001336HP:0010828Hemifacial spasm2CLN3 CL E G H1201204200Juvenile neuronal ceroid lipofuscinosis204200C0751383OMIM110152074607042
HP:0001336HP:0033054Myoclonic tremor2CLN3 CL E G H1201204200Juvenile neuronal ceroid lipofuscinosis204200C0751383OMIM110152074607042
HP:0001336HP:0033054Myoclonic tremor2CLN5 CL E G H1203256731Ceroid lipofuscinosis neuronal 5256731C1850442OMIM17022076608102
HP:0001336HP:0010828Hemifacial spasm2CLN5 CL E G H1203256731Ceroid lipofuscinosis neuronal 5256731C1850442OMIM17022076608102
HP:0001336HP:0033054Myoclonic tremor2CLN6 CL E G H54982204300Adult neuronal ceroid lipofuscinosis204300C0022797OMIM16612077606725
HP:0001336HP:0010828Hemifacial spasm2CLN6 CL E G H54982204300Adult neuronal ceroid lipofuscinosis204300C0022797OMIM16612077606725
HP:0001336HP:0010828Hemifacial spasm2CLN8 CL E G H2055600143Ceroid lipofuscinosis neuronal 8600143C1838570OMIM16402079607837
HP:0001336HP:0033054Myoclonic tremor2CLN8 CL E G H2055600143Ceroid lipofuscinosis neuronal 8600143C1838570OMIM16402079607837
HP:0001336HP:0033054Myoclonic tremor2CNPY3 CL E G H106953451Meier Blumberg Imahorn syndromeORPHA14411968610774
HP:0001336HP:0010828Hemifacial spasm2CNPY3 CL E G H106953451Meier Blumberg Imahorn syndromeORPHA14411968610774
HP:0001336HP:0010828Hemifacial spasm2CNTN2 CL E G H690086814ORPHA16762172190197
HP:0001336HP:0033054Myoclonic tremor2CNTN2 CL E G H690086814ORPHA16762172190197
HP:0001336HP:0010828Hemifacial spasm2CPLX1 CL E G H10815352582ORPHA12062309605032
HP:0001336HP:0033054Myoclonic tremor2CPLX1 CL E G H10815352582ORPHA12062309605032
HP:0001336HP:0010828Hemifacial spasm2CSTB CL E G H1476254800Unverricht-Lundborg syndrome254800C0751785OMIM12612482601145
HP:0001336HP:0033054Myoclonic tremor2CSTB CL E G H1476254800Unverricht-Lundborg syndrome254800C0751785OMIM12612482601145
HP:0001336HP:0033054Myoclonic tremor2CTNND2 CL E G H150186814ORPHA13512516604275
HP:0001336HP:0010828Hemifacial spasm2CTNND2 CL E G H150186814ORPHA13512516604275
HP:0001336HP:0010828Hemifacial spasm2CTSF CL E G H8722615362Ceroid lipofuscinosis, neuronal, 13615362C3715049OMIM12182531603539
HP:0001336HP:0033054Myoclonic tremor2CTSF CL E G H8722615362Ceroid lipofuscinosis, neuronal, 13615362C3715049OMIM12182531603539
HP:0001336HP:0010828Hemifacial spasm2CUX2 CL E G H233162382ORPHA122719347610648
HP:0001336HP:0033054Myoclonic tremor2CUX2 CL E G H233162382ORPHA122719347610648
HP:0001336HP:0010828Hemifacial spasm2CYP27A1 CL E G H1593909ORPHA19402605606530
HP:0001336HP:0033054Myoclonic tremor2CYP27A1 CL E G H1593909ORPHA19402605606530
HP:0001336HP:0010828Hemifacial spasm2DAB1 CL E G H1600363710ORPHA11072661603448
HP:0001336HP:0033054Myoclonic tremor2DAB1 CL E G H1600363710ORPHA11072661603448
HP:0001336HP:0033054Myoclonic tremor2DDC CL E G H1644608643Deficiency of aromatic-L-amino-acid decarboxylase608643C1291564OMIM15032719107930
HP:0001336HP:0010828Hemifacial spasm2DDC CL E G H1644608643Deficiency of aromatic-L-amino-acid decarboxylase608643C1291564OMIM15032719107930
HP:0001336HP:0010828Hemifacial spasm2DENND5A CL E G H23258617281Epileptic encephalopathy, early infantile, 49617281C4310635OMIM146319344617278
HP:0001336HP:0033054Myoclonic tremor2DENND5A CL E G H23258617281Epileptic encephalopathy, early infantile, 49617281C4310635OMIM146319344617278
HP:0001336HP:0010828Hemifacial spasm2DNAJC5 CL E G H80331162350Ceroid lipofuscinosis neuronal 4B autosomal dominant162350C1834207OMIM142816235611203
HP:0001336HP:0033054Myoclonic tremor2DNAJC5 CL E G H80331162350Ceroid lipofuscinosis neuronal 4B autosomal dominant162350C1834207OMIM142816235611203
HP:0001336HP:0033054Myoclonic tremor2DNM1 CL E G H17592382ORPHA17652972602377
HP:0001336HP:0010828Hemifacial spasm2DNM1 CL E G H17592382ORPHA17652972602377
HP:0001336HP:0010828Hemifacial spasm2EPM2A CL E G H7957254780Lafora disease254780C0751783OMIM14163413607566
HP:0001336HP:0033054Myoclonic tremor2EPM2A CL E G H7957254780Lafora disease254780C0751783OMIM14163413607566
HP:0001336HP:0010828Hemifacial spasm2FARS2 CL E G H10667614946Combined oxidative phosphorylation deficiency 14614946C3554168OMIM156421062611592
HP:0001336HP:0033054Myoclonic tremor2FARS2 CL E G H10667614946Combined oxidative phosphorylation deficiency 14614946C3554168OMIM156421062611592
HP:0001336HP:0033054Myoclonic tremor2FBXO7 CL E G H25793171695ORPHA124313586605648
HP:0001336HP:0010828Hemifacial spasm2FBXO7 CL E G H25793171695ORPHA124313586605648
HP:0001336HP:0033054Myoclonic tremor2FOXRED1 CL E G H55572618241MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 19618241OMIM132326927613622
HP:0001336HP:0010828Hemifacial spasm2FOXRED1 CL E G H55572618241MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 19618241OMIM132326927613622
HP:0001336HP:0033054Myoclonic tremor2FRRS1L CL E G H23732616981Epileptic encephalopathy, early infantile, 37616981C4310770OMIM14021362604574
HP:0001336HP:0010828Hemifacial spasm2FRRS1L CL E G H23732616981Epileptic encephalopathy, early infantile, 37616981C4310770OMIM14021362604574
HP:0001336HP:0010828Hemifacial spasm2GABRB2 CL E G H2561617829EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 2617829CN757794OMIM14944082600232
HP:0001336HP:0033054Myoclonic tremor2GABRB2 CL E G H2561617829EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 2617829CN757794OMIM14944082600232
HP:0001336HP:0010828Hemifacial spasm2GABRB3 CL E G H25622382ORPHA18384083137192
HP:0001336HP:0033054Myoclonic tremor2GABRB3 CL E G H25622382ORPHA18384083137192
HP:0001336HP:0033054Myoclonic tremor2GAMT CL E G H2593612736Deficiency of guanidinoacetate methyltransferase612736C0574080OMIM15884136601240
HP:0001336HP:0010828Hemifacial spasm2GAMT CL E G H2593612736Deficiency of guanidinoacetate methyltransferase612736C0574080OMIM15884136601240
HP:0001336HP:0033054Myoclonic tremor2GBA CL E G H2629231000Subacute neuronopathic Gaucher's disease231000C0268251OMIM14177606463
HP:0001336HP:0010828Hemifacial spasm2GBA CL E G H2629231000Subacute neuronopathic Gaucher's disease231000C0268251OMIM14177606463
HP:0001336HP:0010828Hemifacial spasm2GCSH CL E G H2653605899Non-ketotic hyperglycinemia605899C0751748OMIM11764208238330
HP:0001336HP:0033054Myoclonic tremor2GCSH CL E G H2653605899Non-ketotic hyperglycinemia605899C0751748OMIM11764208238330
HP:0001336HP:0033054Myoclonic tremor2GLDC CL E G H2731605899Non-ketotic hyperglycinemia605899C0751748OMIM122384313238300
HP:0001336HP:0010828Hemifacial spasm2GLDC CL E G H2731605899Non-ketotic hyperglycinemia605899C0751748OMIM122384313238300
HP:0001336HP:0010828Hemifacial spasm2GLRA1 CL E G H2741149400Hyperekplexia hereditary149400C1835614OMIM14474326138491
HP:0001336HP:0033054Myoclonic tremor2GLRA1 CL E G H2741149400Hyperekplexia hereditary149400C1835614OMIM14474326138491
HP:0001336HP:0033054Myoclonic tremor2GLRA1 CL E G H27413197Lateral body wall defectORPHA14474326138491
HP:0001336HP:0010828Hemifacial spasm2GLRA1 CL E G H27413197Lateral body wall defectORPHA14474326138491
HP:0001336HP:0010828Hemifacial spasm2GLRB CL E G H2743614619Hyperekplexia 2614619C3553291OMIM13794329138492
HP:0001336HP:0033054Myoclonic tremor2GLRB CL E G H2743614619Hyperekplexia 2614619C3553291OMIM13794329138492
HP:0001336HP:0010828Hemifacial spasm2GLRB CL E G H27433197Lateral body wall defectORPHA13794329138492
HP:0001336HP:0033054Myoclonic tremor2GLRB CL E G H27433197Lateral body wall defectORPHA13794329138492
HP:0001336HP:0010828Hemifacial spasm2GLYCTK CL E G H132158220120Deficiency of glycerate kinase220120C1291386OMIM116624247610516
HP:0001336HP:0033054Myoclonic tremor2GLYCTK CL E G H132158220120Deficiency of glycerate kinase220120C1291386OMIM116624247610516
HP:0001336HP:0010828Hemifacial spasm2GOSR2 CL E G H9570614018Epilepsy, progressive myoclonic 6614018C3279627OMIM13204431604027
HP:0001336HP:0033054Myoclonic tremor2GOSR2 CL E G H9570614018Epilepsy, progressive myoclonic 6614018C3279627OMIM13204431604027
HP:0001336HP:0033054Myoclonic tremor2GPHN CL E G H10243149400Hyperekplexia hereditary149400C1835614OMIM1147315465603930
HP:0001336HP:0010828Hemifacial spasm2GPHN CL E G H10243149400Hyperekplexia hereditary149400C1835614OMIM1147315465603930
HP:0001336HP:0033054Myoclonic tremor2GPHN CL E G H102433197Lateral body wall defectORPHA1147315465603930
HP:0001336HP:0010828Hemifacial spasm2GPHN CL E G H102433197Lateral body wall defectORPHA1147315465603930
HP:0001336HP:0033054Myoclonic tremor2GRIN1 CL E G H2902614254Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant614254C3280282OMIM19294584138249
HP:0001336HP:0010828Hemifacial spasm2GRIN1 CL E G H2902614254Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant614254C3280282OMIM19294584138249
HP:0001336HP:0010828Hemifacial spasm2GRIN2B CL E G H29043451Meier Blumberg Imahorn syndromeORPHA113534586138252
HP:0001336HP:0033054Myoclonic tremor2GRIN2B CL E G H29043451Meier Blumberg Imahorn syndromeORPHA113534586138252
HP:0001336HP:0010828Hemifacial spasm2GUF1 CL E G H60558617065Epileptic encephalopathy, early infantile, 40617065C4310737OMIM130925799617064
HP:0001336HP:0033054Myoclonic tremor2GUF1 CL E G H60558617065Epileptic encephalopathy, early infantile, 40617065C4310737OMIM130925799617064
HP:0001336HP:0033054Myoclonic tremor2GUF1 CL E G H605583451Meier Blumberg Imahorn syndromeORPHA130925799617064
HP:0001336HP:0010828Hemifacial spasm2GUF1 CL E G H605583451Meier Blumberg Imahorn syndromeORPHA130925799617064
HP:0001336HP:0033054Myoclonic tremor2HIBCH CL E G H26275250620Beta-hydroxyisobutyryl-CoA deacylase deficiency250620C0342738OMIM12354908610690
HP:0001336HP:0010828Hemifacial spasm2HIBCH CL E G H26275250620Beta-hydroxyisobutyryl-CoA deacylase deficiency250620C0342738OMIM12354908610690
HP:0001336HP:0010828Hemifacial spasm2HMGCL CL E G H3155246450Deficiency of hydroxymethylglutaryl-CoA lyase246450C0268601OMIM14205005613898
HP:0001336HP:0033054Myoclonic tremor2HMGCL CL E G H3155246450Deficiency of hydroxymethylglutaryl-CoA lyase246450C0268601OMIM14205005613898
HP:0001336HP:0033054Myoclonic tremor2KCNA2 CL E G H3737616366Epileptic encephalopathy, early infantile, 32616366C4225350OMIM14016220176262
HP:0001336HP:0010828Hemifacial spasm2KCNA2 CL E G H3737616366Epileptic encephalopathy, early infantile, 32616366C4225350OMIM14016220176262
HP:0001336HP:0033054Myoclonic tremor2KCNC1 CL E G H3746616187Epilepsy, progressive myoclonic 7616187C4015420OMIM13916233176258
HP:0001336HP:0010828Hemifacial spasm2KCNC1 CL E G H3746616187Epilepsy, progressive myoclonic 7616187C4015420OMIM13916233176258
HP:0001336HP:0010828Hemifacial spasm2KCND3 CL E G H3752607346Spinocerebellar ataxia 19607346C1846367OMIM14676239605411
HP:0001336HP:0033054Myoclonic tremor2KCND3 CL E G H3752607346Spinocerebellar ataxia 19607346C1846367OMIM14676239605411
HP:0001336HP:0033054Myoclonic tremor2KCNQ2 CL E G H3785306ORPHA119626296602235
HP:0001336HP:0010828Hemifacial spasm2KCNQ2 CL E G H3785306ORPHA119626296602235
HP:0001336HP:0010828Hemifacial spasm2KCNQ3 CL E G H3786306ORPHA112276297602232
HP:0001336HP:0033054Myoclonic tremor2KCNQ3 CL E G H3786306ORPHA112276297602232
HP:0001336HP:0010828Hemifacial spasm2KCTD17 CL E G H79734616398Dystonia 26, myoclonic616398C4225341OMIM114425705616386
HP:0001336HP:0033054Myoclonic tremor2KCTD17 CL E G H79734616398Dystonia 26, myoclonic616398C4225341OMIM114425705616386
HP:0001336HP:0033054Myoclonic tremor2KIF5A CL E G H3798617235Myoclonus, intractable, neonatal617235C4310658OMIM110146323602821
HP:0001336HP:0010828Hemifacial spasm2KIF5A CL E G H3798617235Myoclonus, intractable, neonatal617235C4310658OMIM110146323602821
HP:0001336HP:0010828Hemifacial spasm2LIAS CL E G H11019614462Pyruvate dehydrogenase lipoic acid synthetase deficiency614462C3280887OMIM141016429607031
HP:0001336HP:0033054Myoclonic tremor2LIAS CL E G H11019614462Pyruvate dehydrogenase lipoic acid synthetase deficiency614462C3280887OMIM141016429607031
HP:0001336HP:0010828Hemifacial spasm2LMNB2 CL E G H84823616540Epilepsy, progressive myoclonic, 9616540C4225289OMIM15486638150341
HP:0001336HP:0033054Myoclonic tremor2LMNB2 CL E G H84823616540Epilepsy, progressive myoclonic, 9616540C4225289OMIM15486638150341
HP:0001336HP:0033054Myoclonic tremor2MAPK10 CL E G H56022382ORPHA1706872602897
HP:0001336HP:0010828Hemifacial spasm2MAPK10 CL E G H56022382ORPHA1706872602897
HP:0001336HP:0033054Myoclonic tremor2MECP2 CL E G H4204300673Severe neonatal-onset encephalopathy with microcephaly300673C1968556OMIM119256990300005
HP:0001336HP:0010828Hemifacial spasm2MECP2 CL E G H4204300673Severe neonatal-onset encephalopathy with microcephaly300673C1968556OMIM119256990300005
HP:0001336HP:0033054Myoclonic tremor2MECR CL E G H51102617282Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities617282C4310634OMIM115119691608205
HP:0001336HP:0010828Hemifacial spasm2MECR CL E G H51102617282Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities617282C4310634OMIM115119691608205
HP:0001336HP:0010828Hemifacial spasm2MT-TF CL E G H4558545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17481590070
HP:0001336HP:0033054Myoclonic tremor2MT-TF CL E G H4558545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17481590070
HP:0001336HP:0033054Myoclonic tremor2MT-TI CL E G H4565545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17488590045
HP:0001336HP:0010828Hemifacial spasm2MT-TI CL E G H4565545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17488590045
HP:0001336HP:0010828Hemifacial spasm2MT-TK CL E G H4566545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17489590060
HP:0001336HP:0033054Myoclonic tremor2MT-TK CL E G H4566545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17489590060
HP:0001336HP:0033054Myoclonic tremor2MT-TL1 CL E G H4567545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17490590050
HP:0001336HP:0010828Hemifacial spasm2MT-TL1 CL E G H4567545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17490590050
HP:0001336HP:0010828Hemifacial spasm2MT-TP CL E G H4571545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17494590075
HP:0001336HP:0033054Myoclonic tremor2MT-TP CL E G H4571545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17494590075
HP:0001336HP:0033054Myoclonic tremor2MTPAP CL E G H55149254343ORPHA134625532613669
HP:0001336HP:0010828Hemifacial spasm2MTPAP CL E G H55149254343ORPHA134625532613669
HP:0001336HP:0033054Myoclonic tremor2NAGA CL E G H466879279ORPHA12307631104170
HP:0001336HP:0010828Hemifacial spasm2NAGA CL E G H466879279ORPHA12307631104170
HP:0001336HP:0033054Myoclonic tremor2NAGA CL E G H4668609241Schindler disease, type 1609241C1836544OMIM12307631104170
HP:0001336HP:0010828Hemifacial spasm2NAGA CL E G H4668609241Schindler disease, type 1609241C1836544OMIM12307631104170
HP:0001336HP:0010828Hemifacial spasm2NDUFAF3 CL E G H25915618240MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 18618240OMIM112329918612911
HP:0001336HP:0033054Myoclonic tremor2NDUFAF3 CL E G H25915618240MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 18618240OMIM112329918612911
HP:0001336HP:0033054Myoclonic tremor2NDUFV1 CL E G H4723618225MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 4618225OMIM13157716161015
HP:0001336HP:0010828Hemifacial spasm2NDUFV1 CL E G H4723618225MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 4618225OMIM13157716161015
HP:0001336HP:0033054Myoclonic tremor2NEU1 CL E G H4758812ORPHA11857758608272
HP:0001336HP:0010828Hemifacial spasm2NEU1 CL E G H4758812ORPHA11857758608272
HP:0001336HP:0010828Hemifacial spasm2NEU1 CL E G H4758256550Sialidosis, type II256550C0268226OMIM11857758608272
HP:0001336HP:0033054Myoclonic tremor2NEU1 CL E G H4758256550Sialidosis, type II256550C0268226OMIM11857758608272
HP:0001336HP:0010828Hemifacial spasm2NGLY1 CL E G H55768615273Congenital disorder of deglycosylation615273C3808991OMIM165617646610661
HP:0001336HP:0033054Myoclonic tremor2NGLY1 CL E G H55768615273Congenital disorder of deglycosylation615273C3808991OMIM165617646610661
HP:0001336HP:0033054Myoclonic tremor2NHLRC1 CL E G H378884254780Lafora disease254780C0751783OMIM135121576608072
HP:0001336HP:0010828Hemifacial spasm2NHLRC1 CL E G H378884254780Lafora disease254780C0751783OMIM135121576608072
HP:0001336HP:0033054Myoclonic tremor2NME1 CL E G H4830256700Neuroblastoma256700C0027819OMIM1167849156490
HP:0001336HP:0010828Hemifacial spasm2NME1 CL E G H4830256700Neuroblastoma256700C0027819OMIM1167849156490
HP:0001336HP:0033054Myoclonic tremor2NOL3 CL E G H8996614937Myoclonus, familial cortical614937C3539916OMIM1577869605235
HP:0001336HP:0010828Hemifacial spasm2NOL3 CL E G H8996614937Myoclonus, familial cortical614937C3539916OMIM1577869605235
HP:0001336HP:0010828Hemifacial spasm2NTRK2 CL E G H49153451Meier Blumberg Imahorn syndromeORPHA15098032600456
HP:0001336HP:0033054Myoclonic tremor2NTRK2 CL E G H49153451Meier Blumberg Imahorn syndromeORPHA15098032600456
HP:0001336HP:0033054Myoclonic tremor2PHACTR1 CL E G H2216923451Meier Blumberg Imahorn syndromeORPHA19720990608723
HP:0001336HP:0010828Hemifacial spasm2PHACTR1 CL E G H2216923451Meier Blumberg Imahorn syndromeORPHA19720990608723
HP:0001336HP:0010828Hemifacial spasm2PIGA CL E G H52773451Meier Blumberg Imahorn syndromeORPHA14838957311770
HP:0001336HP:0033054Myoclonic tremor2PIGA CL E G H52773451Meier Blumberg Imahorn syndromeORPHA14838957311770
HP:0001336HP:0033054Myoclonic tremor2PLCB1 CL E G H232363451Meier Blumberg Imahorn syndromeORPHA1110715917607120
HP:0001336HP:0010828Hemifacial spasm2PLCB1 CL E G H232363451Meier Blumberg Imahorn syndromeORPHA1110715917607120
HP:0001336HP:0033054Myoclonic tremor2PLPBP CL E G H11212617290Epilepsy, early-onset, vitamin b6-dependent617290C4310632OMIM12429457604436
HP:0001336HP:0010828Hemifacial spasm2PLPBP CL E G H11212617290Epilepsy, early-onset, vitamin b6-dependent617290C4310632OMIM12429457604436
HP:0001336HP:0010828Hemifacial spasm2PNPO CL E G H5516379096ORPHA131730260603287
HP:0001336HP:0033054Myoclonic tremor2PNPO CL E G H5516379096ORPHA131730260603287
HP:0001336HP:0010828Hemifacial spasm2PNPO CL E G H55163610090Pyridoxal 5'-phosphate-dependent epilepsy610090C1864723OMIM131730260603287
HP:0001336HP:0033054Myoclonic tremor2PNPO CL E G H55163610090Pyridoxal 5'-phosphate-dependent epilepsy610090C1864723OMIM131730260603287
HP:0001336HP:0033054Myoclonic tremor2POLG CL E G H542870595ORPHA123249179174763
HP:0001336HP:0010828Hemifacial spasm2POLG CL E G H5428726ORPHA123249179174763
HP:0001336HP:0010828Hemifacial spasm2POLG CL E G H542870595ORPHA123249179174763
HP:0001336HP:0033054Myoclonic tremor2POLG CL E G H5428726ORPHA123249179174763
HP:0001336HP:0033054Myoclonic tremor2POLG CL E G H5428203700Progressive sclerosing poliodystrophy203700C0205710OMIM123249179174763
HP:0001336HP:0010828Hemifacial spasm2POLG CL E G H5428203700Progressive sclerosing poliodystrophy203700C0205710OMIM123249179174763
HP:0001336HP:0033054Myoclonic tremor2POLG CL E G H5428607459Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis607459C1843851OMIM123249179174763
HP:0001336HP:0010828Hemifacial spasm2POLG CL E G H5428607459Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis607459C1843851OMIM123249179174763
HP:0001336HP:0033054Myoclonic tremor2POMGNT1 CL E G H55624253280Muscle eye brain disease253280C0457133OMIM1117419139606822
HP:0001336HP:0010828Hemifacial spasm2POMGNT1 CL E G H55624253280Muscle eye brain disease253280C0457133OMIM1117419139606822
HP:0001336HP:0010828Hemifacial spasm2PPT1 CL E G H5538256730Ceroid lipofuscinosis neuronal 1256730C1850451OMIM16179325600722
HP:0001336HP:0033054Myoclonic tremor2PPT1 CL E G H5538256730Ceroid lipofuscinosis neuronal 1256730C1850451OMIM16179325600722
HP:0001336HP:0033054Myoclonic tremor2PRDM8 CL E G H56978324290ORPHA143913993616639
HP:0001336HP:0010828Hemifacial spasm2PRDM8 CL E G H56978324290ORPHA143913993616639
HP:0001336HP:0033054Myoclonic tremor2PRDM8 CL E G H56978616640Epilepsy, progressive myoclonic, 10616640C4225258OMIM143913993616639
HP:0001336HP:0010828Hemifacial spasm2PRDM8 CL E G H56978616640Epilepsy, progressive myoclonic, 10616640C4225258OMIM143913993616639
HP:0001336HP:0010828Hemifacial spasm2PRNP CL E G H5621282166ORPHA11919449176640
HP:0001336HP:0033054Myoclonic tremor2PRNP CL E G H5621282166ORPHA11919449176640
HP:0001336HP:0033054Myoclonic tremor2PRNP CL E G H5621600072Fatal familial insomnia600072C0206042OMIM11919449176640
HP:0001336HP:0010828Hemifacial spasm2PRNP CL E G H5621600072Fatal familial insomnia600072C0206042OMIM11919449176640
HP:0001336HP:0033054Myoclonic tremor2PRNP CL E G H5621137440Gerstmann-Straussler-Scheinker syndrome137440C0017495OMIM11919449176640
HP:0001336HP:0010828Hemifacial spasm2PRNP CL E G H5621137440Gerstmann-Straussler-Scheinker syndrome137440C0017495OMIM11919449176640
HP:0001336HP:0033054Myoclonic tremor2PRNP CL E G H5621123400Jakob-Creutzfeldt disease123400C0022336OMIM11919449176640
HP:0001336HP:0010828Hemifacial spasm2PRNP CL E G H5621123400Jakob-Creutzfeldt disease123400C0022336OMIM11919449176640
HP:0001336HP:0033054Myoclonic tremor2PRRT2 CL E G H112476306ORPHA179930500614386
HP:0001336HP:0010828Hemifacial spasm2PRRT2 CL E G H112476306ORPHA179930500614386
HP:0001336HP:0010828Hemifacial spasm2PSAP CL E G H5660139406ORPHA17729498176801
HP:0001336HP:0033054Myoclonic tremor2PSAP CL E G H5660139406ORPHA17729498176801
HP:0001336HP:0010828Hemifacial spasm2PSAP CL E G H5660611721Combined saposin deficiency611721C2673635OMIM17729498176801
HP:0001336HP:0033054Myoclonic tremor2PSAP CL E G H5660611721Combined saposin deficiency611721C2673635OMIM17729498176801
HP:0001336HP:0033054Myoclonic tremor2PSAP CL E G H5660610539Gaucher disease, atypical, due to saposin C deficiency610539C1864651OMIM17729498176801
HP:0001336HP:0010828Hemifacial spasm2PSAP CL E G H5660610539Gaucher disease, atypical, due to saposin C deficiency610539C1864651OMIM17729498176801
HP:0001336HP:0033054Myoclonic tremor2PSEN1 CL E G H56631020ORPHA15019508104311
HP:0001336HP:0010828Hemifacial spasm2PSEN1 CL E G H56631020ORPHA15019508104311
HP:0001336HP:0033054Myoclonic tremor2PSEN1 CL E G H5663607822Alzheimer disease, type 3607822C1843013OMIM15019508104311
HP:0001336HP:0010828Hemifacial spasm2PSEN1 CL E G H5663607822Alzheimer disease, type 3607822C1843013OMIM15019508104311
HP:0001336HP:0010828Hemifacial spasm2PSEN2 CL E G H56641020ORPHA12799509600759
HP:0001336HP:0033054Myoclonic tremor2PSEN2 CL E G H56641020ORPHA12799509600759
HP:0001336HP:0010828Hemifacial spasm2PURA CL E G H5813616158Mental retardation, autosomal dominant 31616158C4015357OMIM14599701600473
HP:0001336HP:0033054Myoclonic tremor2PURA CL E G H5813616158Mental retardation, autosomal dominant 31616158C4015357OMIM14599701600473
HP:0001336HP:0033054Myoclonic tremor2QDPR CL E G H5860261630Dihydropteridine reductase deficiency261630C0268465OMIM13199752612676
HP:0001336HP:0010828Hemifacial spasm2QDPR CL E G H5860261630Dihydropteridine reductase deficiency261630C0268465OMIM13199752612676
HP:0001336HP:0033054Myoclonic tremor2RFT1 CL E G H91869612015Congenital disorder of glycosylation type 1N612015C2677590OMIM150530220611908
HP:0001336HP:0010828Hemifacial spasm2RFT1 CL E G H91869612015Congenital disorder of glycosylation type 1N612015C2677590OMIM150530220611908
HP:0001336HP:0010828Hemifacial spasm2SAMD12 CL E G H40147486814ORPHA17531750618073
HP:0001336HP:0033054Myoclonic tremor2SAMD12 CL E G H40147486814ORPHA17531750618073
HP:0001336HP:0033054Myoclonic tremor2SC5D CL E G H630946059ORPHA124210547602286
HP:0001336HP:0010828Hemifacial spasm2SC5D CL E G H630946059ORPHA124210547602286
HP:0001336HP:0033054Myoclonic tremor2SCARB2 CL E G H950254900Epilepsy, progressive myoclonic 4, with or without renal failure254900C0751779OMIM14741665602257
HP:0001336HP:0010828Hemifacial spasm2SCARB2 CL E G H950254900Epilepsy, progressive myoclonic 4, with or without renal failure254900C0751779OMIM14741665602257
HP:0001336HP:0010828Hemifacial spasm2SCN1A CL E G H63232382ORPHA1403010585182389
HP:0001336HP:0033054Myoclonic tremor2SCN1A CL E G H63232382ORPHA1403010585182389
HP:0001336HP:0010828Hemifacial spasm2SCN2A CL E G H6326306ORPHA1228010588182390
HP:0001336HP:0033054Myoclonic tremor2SCN2A CL E G H6326306ORPHA1228010588182390
HP:0001336HP:0010828Hemifacial spasm2SCN2A CL E G H63263451Meier Blumberg Imahorn syndromeORPHA1228010588182390
HP:0001336HP:0033054Myoclonic tremor2SCN2A CL E G H63263451Meier Blumberg Imahorn syndromeORPHA1228010588182390
HP:0001336HP:0033054Myoclonic tremor2SCN8A CL E G H6334306ORPHA1179910596600702
HP:0001336HP:0010828Hemifacial spasm2SCN8A CL E G H6334306ORPHA1179910596600702
HP:0001336HP:0010828Hemifacial spasm2SDHA CL E G H6389252011Mitochondrial complex II deficiency252011C1855008OMIM1250310680600857
HP:0001336HP:0033054Myoclonic tremor2SDHA CL E G H6389252011Mitochondrial complex II deficiency252011C1855008OMIM1250310680600857
HP:0001336HP:0033054Myoclonic tremor2SDHAF1 CL E G H644096252011Mitochondrial complex II deficiency252011C1855008OMIM17733867612848
HP:0001336HP:0010828Hemifacial spasm2SDHAF1 CL E G H644096252011Mitochondrial complex II deficiency252011C1855008OMIM17733867612848
HP:0001336HP:0010828Hemifacial spasm2SDHD CL E G H6392252011Mitochondrial complex II deficiency252011C1855008OMIM168610683602690
HP:0001336HP:0033054Myoclonic tremor2SDHD CL E G H6392252011Mitochondrial complex II deficiency252011C1855008OMIM168610683602690
HP:0001336HP:0033054Myoclonic tremor2SERPINI1 CL E G H5274604218Encephalopathy, familial, with neuroserpin inclusion bodies604218C1858680OMIM13108943602445
HP:0001336HP:0010828Hemifacial spasm2SERPINI1 CL E G H5274604218Encephalopathy, familial, with neuroserpin inclusion bodies604218C1858680OMIM13108943602445
HP:0001336HP:0010828Hemifacial spasm2SGCE CL E G H8910159900Myoclonic dystonia159900C1834570OMIM156810808604149
HP:0001336HP:0033054Myoclonic tremor2SGCE CL E G H8910159900Myoclonic dystonia159900C1834570OMIM156810808604149
HP:0001336HP:0010828Hemifacial spasm2SIK1 CL E G H1500941935ORPHA190911142605705
HP:0001336HP:0033054Myoclonic tremor2SIK1 CL E G H1500941935ORPHA190911142605705
HP:0001336HP:0033054Myoclonic tremor2SIK1 CL E G H1500943451Meier Blumberg Imahorn syndromeORPHA190911142605705
HP:0001336HP:0010828Hemifacial spasm2SIK1 CL E G H1500943451Meier Blumberg Imahorn syndromeORPHA190911142605705
HP:0001336HP:0033054Myoclonic tremor2SLC25A22 CL E G H797511935ORPHA155119954609302
HP:0001336HP:0010828Hemifacial spasm2SLC25A22 CL E G H797511935ORPHA155119954609302
HP:0001336HP:0033054Myoclonic tremor2SLC25A46 CL E G H91137616505NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB616505C4225302OMIM138525198610826
HP:0001336HP:0010828Hemifacial spasm2SLC25A46 CL E G H91137616505NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB616505C4225302OMIM138525198610826
HP:0001336HP:0033054Myoclonic tremor2SLC2A1 CL E G H6513606777GLUT1 deficiency syndrome 1606777CN030711OMIM196511005138140
HP:0001336HP:0010828Hemifacial spasm2SLC2A1 CL E G H6513606777GLUT1 deficiency syndrome 1606777CN030711OMIM196511005138140
HP:0001336HP:0033054Myoclonic tremor2SLC52A2 CL E G H7958197229ORPHA152030224607882
HP:0001336HP:0010828Hemifacial spasm2SLC52A2 CL E G H7958197229ORPHA152030224607882
HP:0001336HP:0010828Hemifacial spasm2SLC52A3 CL E G H11327897229ORPHA146416187613350
HP:0001336HP:0033054Myoclonic tremor2SLC52A3 CL E G H11327897229ORPHA146416187613350
HP:0001336HP:0010828Hemifacial spasm2SLC6A5 CL E G H91523197Lateral body wall defectORPHA171811051604159
HP:0001336HP:0033054Myoclonic tremor2SLC6A5 CL E G H91523197Lateral body wall defectORPHA171811051604159
HP:0001336HP:0010828Hemifacial spasm2SNCA CL E G H6622171695ORPHA119311138163890
HP:0001336HP:0033054Myoclonic tremor2SNCA CL E G H6622171695ORPHA119311138163890
HP:0001336HP:0033054Myoclonic tremor2SNCA CL E G H6622168601Parkinson disease 1168601C1868595OMIM119311138163890
HP:0001336HP:0010828Hemifacial spasm2SNCA CL E G H6622168601Parkinson disease 1168601C1868595OMIM119311138163890
HP:0001336HP:0033054Myoclonic tremor2SORL1 CL E G H66531020ORPHA153711185602005
HP:0001336HP:0010828Hemifacial spasm2SORL1 CL E G H66531020ORPHA153711185602005
HP:0001336HP:0010828Hemifacial spasm2SPTAN1 CL E G H67093451Meier Blumberg Imahorn syndromeORPHA1226711273182810
HP:0001336HP:0033054Myoclonic tremor2SPTAN1 CL E G H67093451Meier Blumberg Imahorn syndromeORPHA1226711273182810
HP:0001336HP:0033054Myoclonic tremor2ST3GAL3 CL E G H64873451Meier Blumberg Imahorn syndromeORPHA134010866606494
HP:0001336HP:0010828Hemifacial spasm2ST3GAL3 CL E G H64873451Meier Blumberg Imahorn syndromeORPHA134010866606494
HP:0001336HP:0010828Hemifacial spasm2ST3GAL5 CL E G H8869609056Amish infantile epilepsy syndrome609056C1836824OMIM137310872604402
HP:0001336HP:0033054Myoclonic tremor2ST3GAL5 CL E G H8869609056Amish infantile epilepsy syndrome609056C1836824OMIM137310872604402
HP:0001336HP:0010828Hemifacial spasm2STAMBP CL E G H10617614261Microcephaly-capillary malformation syndrome614261C3280296OMIM118616950606247
HP:0001336HP:0033054Myoclonic tremor2STAMBP CL E G H10617614261Microcephaly-capillary malformation syndrome614261C3280296OMIM118616950606247
HP:0001336HP:0010828Hemifacial spasm2STXBP1 CL E G H68123451Meier Blumberg Imahorn syndromeORPHA1101711444602926
HP:0001336HP:0033054Myoclonic tremor2STXBP1 CL E G H68123451Meier Blumberg Imahorn syndromeORPHA1101711444602926
HP:0001336HP:0010828Hemifacial spasm2TAF1 CL E G H687253351ORPHA153411535313650
HP:0001336HP:0033054Myoclonic tremor2TAF1 CL E G H687253351ORPHA153411535313650
HP:0001336HP:0033054Myoclonic tremor2TAF1 CL E G H6872314250Dystonia 3, torsion, X-linked314250C1839130OMIM153411535313650
HP:0001336HP:0010828Hemifacial spasm2TAF1 CL E G H6872314250Dystonia 3, torsion, X-linked314250C1839130OMIM153411535313650
HP:0001336HP:0033054Myoclonic tremor2TBC1D24 CL E G H57465352582ORPHA189329203613577
HP:0001336HP:0010828Hemifacial spasm2TBC1D24 CL E G H57465352596ORPHA189329203613577
HP:0001336HP:0033054Myoclonic tremor2TBC1D24 CL E G H57465352596ORPHA189329203613577
HP:0001336HP:0010828Hemifacial spasm2TBC1D24 CL E G H57465352582ORPHA189329203613577
HP:0001336HP:0033054Myoclonic tremor2TBC1D24 CL E G H57465615338Early infantile epileptic encephalopathy 16615338C3809173OMIM189329203613577
HP:0001336HP:0010828Hemifacial spasm2TBC1D24 CL E G H57465615338Early infantile epileptic encephalopathy 16615338C3809173OMIM189329203613577
HP:0001336HP:0010828Hemifacial spasm2TBP CL E G H6908607136Spinocerebellar ataxia 17607136C1846707OMIM113111588600075
HP:0001336HP:0033054Myoclonic tremor2TBP CL E G H6908607136Spinocerebellar ataxia 17607136C1846707OMIM113111588600075
HP:0001336HP:0033054Myoclonic tremor2TH CL E G H7054101150ORPHA196711782191290
HP:0001336HP:0010828Hemifacial spasm2TH CL E G H7054101150ORPHA196711782191290
HP:0001336HP:0033054Myoclonic tremor2TMEM231 CL E G H795832752ORPHA146337234614949
HP:0001336HP:0010828Hemifacial spasm2TMEM231 CL E G H795832752ORPHA146337234614949
HP:0001336HP:0033054Myoclonic tremor2TOE1 CL E G H114034614969Pontocerebellar hypoplasia, type 7614969C3554226OMIM127215954613931
HP:0001336HP:0010828Hemifacial spasm2TOE1 CL E G H114034614969Pontocerebellar hypoplasia, type 7614969C3554226OMIM127215954613931
HP:0001336HP:0010828Hemifacial spasm2TOMM40 CL E G H104521020ORPHA12918001608061
HP:0001336HP:0033054Myoclonic tremor2TOMM40 CL E G H104521020ORPHA12918001608061
HP:0001336HP:0010828Hemifacial spasm2TPP1 CL E G H1200204500Ceroid lipofuscinosis neuronal 2204500C1876161OMIM110232073607998
HP:0001336HP:0033054Myoclonic tremor2TPP1 CL E G H1200204500Ceroid lipofuscinosis neuronal 2204500C1876161OMIM110232073607998
HP:0001336HP:0010828Hemifacial spasm2TRAK1 CL E G H22906618201EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 68618201OMIM120829947608112
HP:0001336HP:0033054Myoclonic tremor2TRAK1 CL E G H22906618201EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 68618201OMIM120829947608112
HP:0001336HP:0033054Myoclonic tremor2TRAPPC12 CL E G H51112617669ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND SPASTICITY617669C4540059OMIM120224284614139
HP:0001336HP:0010828Hemifacial spasm2TRAPPC12 CL E G H51112617669ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND SPASTICITY617669C4540059OMIM120224284614139
HP:0001336HP:0033054Myoclonic tremor2TREM2 CL E G H542091020ORPHA115417761605086
HP:0001336HP:0010828Hemifacial spasm2TREM2 CL E G H542091020ORPHA115417761605086
HP:0001336HP:0010828Hemifacial spasm2TSEN54 CL E G H283989225753Pontocerebellar hypoplasia type 4225753C1856974OMIM141427561608755
HP:0001336HP:0033054Myoclonic tremor2TSEN54 CL E G H283989225753Pontocerebellar hypoplasia type 4225753C1856974OMIM141427561608755
HP:0001336HP:0010828Hemifacial spasm2TSPYL1 CL E G H7259168593ORPHA17212382604714
HP:0001336HP:0033054Myoclonic tremor2TSPYL1 CL E G H7259168593ORPHA17212382604714
HP:0001336HP:0010828Hemifacial spasm2TWNK CL E G H5665270595ORPHA14501160606075
HP:0001336HP:0033054Myoclonic tremor2TWNK CL E G H5665270595ORPHA14501160606075
HP:0001336HP:0010828Hemifacial spasm2TWNK CL E G H56652607459Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis607459C1843851OMIM14501160606075
HP:0001336HP:0033054Myoclonic tremor2TWNK CL E G H56652607459Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis607459C1843851OMIM14501160606075
HP:0001336HP:0033054Myoclonic tremor2TYROBP CL E G H7305221770Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy221770C1857316OMIM111012449604142
HP:0001336HP:0010828Hemifacial spasm2TYROBP CL E G H7305221770Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy221770C1857316OMIM111012449604142
HP:0001336HP:0033054Myoclonic tremor2VPS13D CL E G H55187607317Spinocerebellar ataxia autosomal recessive 4607317C1846492OMIM1103423595608877
HP:0001336HP:0010828Hemifacial spasm2VPS13D CL E G H55187607317Spinocerebellar ataxia autosomal recessive 4607317C1846492OMIM1103423595608877
HP:0001336HP:0010828Hemifacial spasm2ZNHIT3 CL E G H9326260565PEHO syndrome260565C1850055OMIM113612309604500
HP:0001336HP:0033054Myoclonic tremor2ZNHIT3 CL E G H9326260565PEHO syndrome260565C1850055OMIM113612309604500
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0001336HP:0001336Myoclonus0AARS CL E G H16442835ORPHA020601065
HP:0001336HP:0001336Myoclonus0ADAR CL E G H103225154ORPHA01122225146920
HP:0001336HP:0001336Myoclonus0ANO3 CL E G H63982420485ORPHA047714004610110
HP:0001336HP:0001336Myoclonus0AP3B2 CL E G H8120442835ORPHA0690567602166
HP:0001336HP:0001336Myoclonus0ARV1 CL E G H64801442835ORPHA08929561611647
HP:0001336HP:0001336Myoclonus0ATN1 CL E G H1822125370Dentatorubral pallidoluysian atrophy125370C0751781OMIM02133033607462
HP:0001336HP:0001336Myoclonus0ATP6V1A CL E G H523442835ORPHA0229851607027
HP:0001336HP:0001336Myoclonus0BOLA3 CL E G H388962614299Multiple mitochondrial dysfunctions syndrome 2614299C3280378OMIM010224415613183
HP:0001336HP:0001336Myoclonus0C9orf72 CL E G H203228401901ORPHA017728337614260
HP:0001336HP:0001336Myoclonus0CACNA1A CL E G H773442835ORPHA032481388601011
HP:0001336HP:0001336Myoclonus0CHD2 CL E G H11061942ORPHA018381917602119
HP:0001336HP:0001336Myoclonus0CLTC CL E G H1213442835ORPHA06452092118955
HP:0001336HP:0001336Myoclonus0CNKSR2 CL E G H22866442835ORPHA030619701300724
HP:0001336HP:0001336Myoclonus0COQ8A CL E G H56997139485ORPHA069916812606980
HP:0001336HP:0001336Myoclonus0COQ8A CL E G H56997612016Coenzyme Q10 deficiency, primary, 4612016C2677589OMIM069916812606980
HP:0001336HP:0001336Myoclonus0CYFIP2 CL E G H26999442835ORPHA066813760606323
HP:0001336HP:0001336Myoclonus0DHDDS CL E G H79947442835ORPHA043420603608172
HP:0001336HP:0001336Myoclonus0DNAJC6 CL E G H9829391411ORPHA031015469608375
HP:0001336HP:0001336Myoclonus0DNM1 CL E G H1759442835ORPHA07652972602377
HP:0001336HP:0001336Myoclonus0EEF1A2 CL E G H1917442835ORPHA05753192602959
HP:0001336HP:0001336Myoclonus0EFHC1 CL E G H1143271941ORPHA045416406608815
HP:0001336HP:0001336Myoclonus0FGF12 CL E G H2257442835ORPHA02593668601513
HP:0001336HP:0001336Myoclonus0GABRB2 CL E G H2561442835ORPHA04944082600232
HP:0001336HP:0001336Myoclonus0GLRX5 CL E G H51218401866ORPHA011120134609588
HP:0001336HP:0001336Myoclonus0GRIA3 CL E G H2892300699Mental retardation, X-linked, syndromic, wu type300699C2678051OMIM05604573305915
HP:0001336HP:0001336Myoclonus0GRIK2 CL E G H2898611092Mental retardation, autosomal recessive 6611092C1970198OMIM01894580138244
HP:0001336HP:0001336Myoclonus0GRIN2D CL E G H2906442835ORPHA08234588602717
HP:0001336HP:0001336Myoclonus0HCN1 CL E G H348980442835ORPHA07964845602780
HP:0001336HP:0001336Myoclonus0HTT CL E G H3064248111ORPHA07604851613004
HP:0001336HP:0001336Myoclonus0KCNA2 CL E G H3737442835ORPHA04016220176262
HP:0001336HP:0001336Myoclonus0KCNB1 CL E G H3745442835ORPHA06356231600397
HP:0001336HP:0001336Myoclonus0KCNC3 CL E G H374898768ORPHA03116235176264
HP:0001336HP:0001336Myoclonus0KMT2B CL E G H9757617284Dystonia 28, childhood-onset617284C4310633OMIM0130315840606834
HP:0001336HP:0001336Myoclonus0MRE11 CL E G H4361251347ORPHA019117230600814
HP:0001336HP:0001336Myoclonus0MT-ATP6 CL E G H4508225154ORPHA07414516060
HP:0001336HP:0001336Myoclonus0NECAP1 CL E G H25977442835ORPHA022124539611623
HP:0001336HP:0001336Myoclonus0NTRK2 CL E G H4915442835ORPHA05098032600456
HP:0001336HP:0001336Myoclonus0NUP62 CL E G H23636225154ORPHA01618066605815
HP:0001336HP:0001336Myoclonus0NUS1 CL E G H116150442835ORPHA032621042610463
HP:0001336HP:0001336Myoclonus0PLA2G6 CL E G H8398199351ORPHA07759039603604
HP:0001336HP:0001336Myoclonus0PODXL CL E G H5420391411ORPHA02009171602632
HP:0001336HP:0001336Myoclonus0PPP3CA CL E G H5530442835ORPHA03519314114105
HP:0001336HP:0001336Myoclonus0PRKCG CL E G H558298763ORPHA03239402176980
HP:0001336HP:0001336Myoclonus0PTS CL E G H580513Brain malformationC0266449ORPHA02639689612719
HP:0001336HP:0001336Myoclonus0RMND1 CL E G H55005614922Combined oxidative phosphorylation deficiency 11614922C3554067OMIM026221176614917
HP:0001336HP:0001336Myoclonus0SCN3A CL E G H6328442835ORPHA0142010590182391
HP:0001336HP:0001336Myoclonus0SCN8A CL E G H6334442835ORPHA0179910596600702
HP:0001336HP:0001336Myoclonus0SLC13A5 CL E G H284111442835ORPHA068523089608305
HP:0001336HP:0001336Myoclonus0SLC1A2 CL E G H6506442835ORPHA035910940600300
HP:0001336HP:0001336Myoclonus0SLC2A1 CL E G H651371277ORPHA096511005138140
HP:0001336HP:0001336Myoclonus0SLC6A1 CL E G H65291942ORPHA080911042137165
HP:0001336HP:0001336Myoclonus0STXBP1 CL E G H6812442835ORPHA0101711444602926
HP:0001336HP:0001336Myoclonus0SYNGAP1 CL E G H8831442835ORPHA0133511497603384
HP:0001336HP:0001336Myoclonus0SYNJ1 CL E G H8867442835ORPHA0131511503604297
HP:0001336HP:0001336Myoclonus0SYNJ1 CL E G H8867391411ORPHA0131511503604297
HP:0001336HP:0001336Myoclonus0SZT2 CL E G H23334442835ORPHA0286229040615463
HP:0001336HP:0001336Myoclonus0TBC1D24 CL E G H5746579500ORPHA089329203613577
HP:0001336HP:0001336Myoclonus0TH CL E G H7054605407Segawa syndrome, autosomal recessive605407C1854299OMIM096711782191290
HP:0001336HP:0001336Myoclonus0THAP1 CL E G H55145602629Dystonia 6, torsion602629C1414216OMIM020620856609520
HP:0001336HP:0001336Myoclonus0TRAK1 CL E G H22906442835ORPHA020829947608112
HP:0001336HP:0001336Myoclonus0UBA5 CL E G H79876442835ORPHA022323230610552
HP:0001336HP:0001336Myoclonus0WWOX CL E G H51741442835ORPHA0110212799605131
HP:0001336HP:0001336Myoclonus0YWHAG CL E G H7532442835ORPHA018912852605356
HP:0001336HP:0045084Limb myoclonus1AARS CL E G H16442835ORPHA020601065
HP:0001336HP:0010530Palatal myoclonus1AARS CL E G H16442835ORPHA020601065
HP:0001336HP:0040148Cortical myoclonus1AARS CL E G H16442835ORPHA020601065
HP:0001336HP:0025097Eyelid myoclonus1AARS CL E G H16442835ORPHA020601065
HP:0001336HP:0010531Spinal myoclonus1AARS CL E G H16442835ORPHA020601065
HP:0001336HP:0012462Chin myoclonus1AARS CL E G H16442835ORPHA020601065
HP:0001336HP:0003739Myoclonic spasms1AARS CL E G H16442835ORPHA020601065
HP:0001336HP:0012323Sleep myoclonus1AARS CL E G H16442835ORPHA020601065
HP:0001336HP:0025357Erratic myoclonus1AARS CL E G H16442835ORPHA020601065
HP:0001336HP:0007000Morning myoclonic jerks1AARS CL E G H16442835ORPHA020601065
HP:0001336HP:0031986Polyminimyoclonus1AARS CL E G H16442835ORPHA020601065
HP:0001336HP:0012462Chin myoclonus1ADAR CL E G H103225154ORPHA01122225146920
HP:0001336HP:0025097Eyelid myoclonus1ADAR CL E G H103225154ORPHA01122225146920
HP:0001336HP:0010531Spinal myoclonus1ADAR CL E G H103225154ORPHA01122225146920
HP:0001336HP:0025357Erratic myoclonus1ADAR CL E G H103225154ORPHA01122225146920
HP:0001336HP:0003739Myoclonic spasms1ADAR CL E G H103225154ORPHA01122225146920
HP:0001336HP:0012323Sleep myoclonus1ADAR CL E G H103225154ORPHA01122225146920
HP:0001336HP:0007000Morning myoclonic jerks1ADAR CL E G H103225154ORPHA01122225146920
HP:0001336HP:0031986Polyminimyoclonus1ADAR CL E G H103225154ORPHA01122225146920
HP:0001336HP:0040148Cortical myoclonus1ADAR CL E G H103225154ORPHA01122225146920
HP:0001336HP:0045084Limb myoclonus1ADAR CL E G H103225154ORPHA01122225146920
HP:0001336HP:0010530Palatal myoclonus1ADAR CL E G H103225154ORPHA01122225146920
HP:0001336HP:0040148Cortical myoclonus1ANO3 CL E G H63982420485ORPHA047714004610110
HP:0001336HP:0045084Limb myoclonus1ANO3 CL E G H63982420485ORPHA047714004610110
HP:0001336HP:0010530Palatal myoclonus1ANO3 CL E G H63982420485ORPHA047714004610110
HP:0001336HP:0012462Chin myoclonus1ANO3 CL E G H63982420485ORPHA047714004610110
HP:0001336HP:0025097Eyelid myoclonus1ANO3 CL E G H63982420485ORPHA047714004610110
HP:0001336HP:0010531Spinal myoclonus1ANO3 CL E G H63982420485ORPHA047714004610110
HP:0001336HP:0025357Erratic myoclonus1ANO3 CL E G H63982420485ORPHA047714004610110
HP:0001336HP:0003739Myoclonic spasms1ANO3 CL E G H63982420485ORPHA047714004610110
HP:0001336HP:0012323Sleep myoclonus1ANO3 CL E G H63982420485ORPHA047714004610110
HP:0001336HP:0007000Morning myoclonic jerks1ANO3 CL E G H63982420485ORPHA047714004610110
HP:0001336HP:0031986Polyminimyoclonus1ANO3 CL E G H63982420485ORPHA047714004610110
HP:0001336HP:0012323Sleep myoclonus1AP3B2 CL E G H8120442835ORPHA0690567602166
HP:0001336HP:0025357Erratic myoclonus1AP3B2 CL E G H8120442835ORPHA0690567602166
HP:0001336HP:0003739Myoclonic spasms1AP3B2 CL E G H8120442835ORPHA0690567602166
HP:0001336HP:0031986Polyminimyoclonus1AP3B2 CL E G H8120442835ORPHA0690567602166
HP:0001336HP:0007000Morning myoclonic jerks1AP3B2 CL E G H8120442835ORPHA0690567602166
HP:0001336HP:0010530Palatal myoclonus1AP3B2 CL E G H8120442835ORPHA0690567602166
HP:0001336HP:0040148Cortical myoclonus1AP3B2 CL E G H8120442835ORPHA0690567602166
HP:0001336HP:0045084Limb myoclonus1AP3B2 CL E G H8120442835ORPHA0690567602166
HP:0001336HP:0010531Spinal myoclonus1AP3B2 CL E G H8120442835ORPHA0690567602166
HP:0001336HP:0012462Chin myoclonus1AP3B2 CL E G H8120442835ORPHA0690567602166
HP:0001336HP:0025097Eyelid myoclonus1AP3B2 CL E G H8120442835ORPHA0690567602166
HP:0001336HP:0040148Cortical myoclonus1ARV1 CL E G H64801442835ORPHA08929561611647
HP:0001336HP:0045084Limb myoclonus1ARV1 CL E G H64801442835ORPHA08929561611647
HP:0001336HP:0010530Palatal myoclonus1ARV1 CL E G H64801442835ORPHA08929561611647
HP:0001336HP:0012462Chin myoclonus1ARV1 CL E G H64801442835ORPHA08929561611647
HP:0001336HP:0025097Eyelid myoclonus1ARV1 CL E G H64801442835ORPHA08929561611647
HP:0001336HP:0010531Spinal myoclonus1ARV1 CL E G H64801442835ORPHA08929561611647
HP:0001336HP:0025357Erratic myoclonus1ARV1 CL E G H64801442835ORPHA08929561611647
HP:0001336HP:0003739Myoclonic spasms1ARV1 CL E G H64801442835ORPHA08929561611647
HP:0001336HP:0012323Sleep myoclonus1ARV1 CL E G H64801442835ORPHA08929561611647
HP:0001336HP:0007000Morning myoclonic jerks1ARV1 CL E G H64801442835ORPHA08929561611647
HP:0001336HP:0031986Polyminimyoclonus1ARV1 CL E G H64801442835ORPHA08929561611647
HP:0001336HP:0012462Chin myoclonus1ATN1 CL E G H1822125370Dentatorubral pallidoluysian atrophy125370C0751781OMIM02133033607462
HP:0001336HP:0025097Eyelid myoclonus1ATN1 CL E G H1822125370Dentatorubral pallidoluysian atrophy125370C0751781OMIM02133033607462
HP:0001336HP:0010531Spinal myoclonus1ATN1 CL E G H1822125370Dentatorubral pallidoluysian atrophy125370C0751781OMIM02133033607462
HP:0001336HP:0025357Erratic myoclonus1ATN1 CL E G H1822125370Dentatorubral pallidoluysian atrophy125370C0751781OMIM02133033607462
HP:0001336HP:0003739Myoclonic spasms1ATN1 CL E G H1822125370Dentatorubral pallidoluysian atrophy125370C0751781OMIM02133033607462
HP:0001336HP:0012323Sleep myoclonus1ATN1 CL E G H1822125370Dentatorubral pallidoluysian atrophy125370C0751781OMIM02133033607462
HP:0001336HP:0007000Morning myoclonic jerks1ATN1 CL E G H1822125370Dentatorubral pallidoluysian atrophy125370C0751781OMIM02133033607462
HP:0001336HP:0031986Polyminimyoclonus1ATN1 CL E G H1822125370Dentatorubral pallidoluysian atrophy125370C0751781OMIM02133033607462
HP:0001336HP:0040148Cortical myoclonus1ATN1 CL E G H1822125370Dentatorubral pallidoluysian atrophy125370C0751781OMIM02133033607462
HP:0001336HP:0045084Limb myoclonus1ATN1 CL E G H1822125370Dentatorubral pallidoluysian atrophy125370C0751781OMIM02133033607462
HP:0001336HP:0010530Palatal myoclonus1ATN1 CL E G H1822125370Dentatorubral pallidoluysian atrophy125370C0751781OMIM02133033607462
HP:0001336HP:0025357Erratic myoclonus1ATP6V1A CL E G H523442835ORPHA0229851607027
HP:0001336HP:0003739Myoclonic spasms1ATP6V1A CL E G H523442835ORPHA0229851607027
HP:0001336HP:0012323Sleep myoclonus1ATP6V1A CL E G H523442835ORPHA0229851607027
HP:0001336HP:0007000Morning myoclonic jerks1ATP6V1A CL E G H523442835ORPHA0229851607027
HP:0001336HP:0031986Polyminimyoclonus1ATP6V1A CL E G H523442835ORPHA0229851607027
HP:0001336HP:0040148Cortical myoclonus1ATP6V1A CL E G H523442835ORPHA0229851607027
HP:0001336HP:0045084Limb myoclonus1ATP6V1A CL E G H523442835ORPHA0229851607027
HP:0001336HP:0010530Palatal myoclonus1ATP6V1A CL E G H523442835ORPHA0229851607027
HP:0001336HP:0012462Chin myoclonus1ATP6V1A CL E G H523442835ORPHA0229851607027
HP:0001336HP:0025097Eyelid myoclonus1ATP6V1A CL E G H523442835ORPHA0229851607027
HP:0001336HP:0010531Spinal myoclonus1ATP6V1A CL E G H523442835ORPHA0229851607027
HP:0001336HP:0007000Morning myoclonic jerks1BOLA3 CL E G H388962614299Multiple mitochondrial dysfunctions syndrome 2614299C3280378OMIM010224415613183
HP:0001336HP:0031986Polyminimyoclonus1BOLA3 CL E G H388962614299Multiple mitochondrial dysfunctions syndrome 2614299C3280378OMIM010224415613183
HP:0001336HP:0040148Cortical myoclonus1BOLA3 CL E G H388962614299Multiple mitochondrial dysfunctions syndrome 2614299C3280378OMIM010224415613183
HP:0001336HP:0045084Limb myoclonus1BOLA3 CL E G H388962614299Multiple mitochondrial dysfunctions syndrome 2614299C3280378OMIM010224415613183
HP:0001336HP:0010530Palatal myoclonus1BOLA3 CL E G H388962614299Multiple mitochondrial dysfunctions syndrome 2614299C3280378OMIM010224415613183
HP:0001336HP:0012462Chin myoclonus1BOLA3 CL E G H388962614299Multiple mitochondrial dysfunctions syndrome 2614299C3280378OMIM010224415613183
HP:0001336HP:0025097Eyelid myoclonus1BOLA3 CL E G H388962614299Multiple mitochondrial dysfunctions syndrome 2614299C3280378OMIM010224415613183
HP:0001336HP:0010531Spinal myoclonus1BOLA3 CL E G H388962614299Multiple mitochondrial dysfunctions syndrome 2614299C3280378OMIM010224415613183
HP:0001336HP:0025357Erratic myoclonus1BOLA3 CL E G H388962614299Multiple mitochondrial dysfunctions syndrome 2614299C3280378OMIM010224415613183
HP:0001336HP:0003739Myoclonic spasms1BOLA3 CL E G H388962614299Multiple mitochondrial dysfunctions syndrome 2614299C3280378OMIM010224415613183
HP:0001336HP:0012323Sleep myoclonus1BOLA3 CL E G H388962614299Multiple mitochondrial dysfunctions syndrome 2614299C3280378OMIM010224415613183
HP:0001336HP:0012323Sleep myoclonus1C9orf72 CL E G H203228401901ORPHA017728337614260
HP:0001336HP:0025357Erratic myoclonus1C9orf72 CL E G H203228401901ORPHA017728337614260
HP:0001336HP:0003739Myoclonic spasms1C9orf72 CL E G H203228401901ORPHA017728337614260
HP:0001336HP:0031986Polyminimyoclonus1C9orf72 CL E G H203228401901ORPHA017728337614260
HP:0001336HP:0007000Morning myoclonic jerks1C9orf72 CL E G H203228401901ORPHA017728337614260
HP:0001336HP:0010530Palatal myoclonus1C9orf72 CL E G H203228401901ORPHA017728337614260
HP:0001336HP:0040148Cortical myoclonus1C9orf72 CL E G H203228401901ORPHA017728337614260
HP:0001336HP:0045084Limb myoclonus1C9orf72 CL E G H203228401901ORPHA017728337614260
HP:0001336HP:0010531Spinal myoclonus1C9orf72 CL E G H203228401901ORPHA017728337614260
HP:0001336HP:0012462Chin myoclonus1C9orf72 CL E G H203228401901ORPHA017728337614260
HP:0001336HP:0025097Eyelid myoclonus1C9orf72 CL E G H203228401901ORPHA017728337614260
HP:0001336HP:0045084Limb myoclonus1CACNA1A CL E G H773442835ORPHA032481388601011
HP:0001336HP:0010530Palatal myoclonus1CACNA1A CL E G H773442835ORPHA032481388601011
HP:0001336HP:0040148Cortical myoclonus1CACNA1A CL E G H773442835ORPHA032481388601011
HP:0001336HP:0025097Eyelid myoclonus1CACNA1A CL E G H773442835ORPHA032481388601011
HP:0001336HP:0010531Spinal myoclonus1CACNA1A CL E G H773442835ORPHA032481388601011
HP:0001336HP:0012462Chin myoclonus1CACNA1A CL E G H773442835ORPHA032481388601011
HP:0001336HP:0003739Myoclonic spasms1CACNA1A CL E G H773442835ORPHA032481388601011
HP:0001336HP:0012323Sleep myoclonus1CACNA1A CL E G H773442835ORPHA032481388601011
HP:0001336HP:0025357Erratic myoclonus1CACNA1A CL E G H773442835ORPHA032481388601011
HP:0001336HP:0007000Morning myoclonic jerks1CACNA1A CL E G H773442835ORPHA032481388601011
HP:0001336HP:0031986Polyminimyoclonus1CACNA1A CL E G H773442835ORPHA032481388601011
HP:0001336HP:0003739Myoclonic spasms1CHD2 CL E G H11061942ORPHA018381917602119
HP:0001336HP:0012323Sleep myoclonus1CHD2 CL E G H11061942ORPHA018381917602119
HP:0001336HP:0025357Erratic myoclonus1CHD2 CL E G H11061942ORPHA018381917602119
HP:0001336HP:0031986Polyminimyoclonus1CHD2 CL E G H11061942ORPHA018381917602119
HP:0001336HP:0007000Morning myoclonic jerks1CHD2 CL E G H11061942ORPHA018381917602119
HP:0001336HP:0010530Palatal myoclonus1CHD2 CL E G H11061942ORPHA018381917602119
HP:0001336HP:0040148Cortical myoclonus1CHD2 CL E G H11061942ORPHA018381917602119
HP:0001336HP:0045084Limb myoclonus1CHD2 CL E G H11061942ORPHA018381917602119
HP:0001336HP:0010531Spinal myoclonus1CHD2 CL E G H11061942ORPHA018381917602119
HP:0001336HP:0012462Chin myoclonus1CHD2 CL E G H11061942ORPHA018381917602119
HP:0001336HP:0025097Eyelid myoclonus1CHD2 CL E G H11061942ORPHA018381917602119
HP:0001336HP:0012323Sleep myoclonus1CLTC CL E G H1213442835ORPHA06452092118955
HP:0001336HP:0025357Erratic myoclonus1CLTC CL E G H1213442835ORPHA06452092118955
HP:0001336HP:0003739Myoclonic spasms1CLTC CL E G H1213442835ORPHA06452092118955
HP:0001336HP:0031986Polyminimyoclonus1CLTC CL E G H1213442835ORPHA06452092118955
HP:0001336HP:0007000Morning myoclonic jerks1CLTC CL E G H1213442835ORPHA06452092118955
HP:0001336HP:0010530Palatal myoclonus1CLTC CL E G H1213442835ORPHA06452092118955
HP:0001336HP:0040148Cortical myoclonus1CLTC CL E G H1213442835ORPHA06452092118955
HP:0001336HP:0045084Limb myoclonus1CLTC CL E G H1213442835ORPHA06452092118955
HP:0001336HP:0010531Spinal myoclonus1CLTC CL E G H1213442835ORPHA06452092118955
HP:0001336HP:0012462Chin myoclonus1CLTC CL E G H1213442835ORPHA06452092118955
HP:0001336HP:0025097Eyelid myoclonus1CLTC CL E G H1213442835ORPHA06452092118955
HP:0001336HP:0040148Cortical myoclonus1CNKSR2 CL E G H22866442835ORPHA030619701300724
HP:0001336HP:0045084Limb myoclonus1CNKSR2 CL E G H22866442835ORPHA030619701300724
HP:0001336HP:0010530Palatal myoclonus1CNKSR2 CL E G H22866442835ORPHA030619701300724
HP:0001336HP:0012462Chin myoclonus1CNKSR2 CL E G H22866442835ORPHA030619701300724
HP:0001336HP:0025097Eyelid myoclonus1CNKSR2 CL E G H22866442835ORPHA030619701300724
HP:0001336HP:0010531Spinal myoclonus1CNKSR2 CL E G H22866442835ORPHA030619701300724
HP:0001336HP:0025357Erratic myoclonus1CNKSR2 CL E G H22866442835ORPHA030619701300724
HP:0001336HP:0003739Myoclonic spasms1CNKSR2 CL E G H22866442835ORPHA030619701300724
HP:0001336HP:0012323Sleep myoclonus1CNKSR2 CL E G H22866442835ORPHA030619701300724
HP:0001336HP:0007000Morning myoclonic jerks1CNKSR2 CL E G H22866442835ORPHA030619701300724
HP:0001336HP:0031986Polyminimyoclonus1CNKSR2 CL E G H22866442835ORPHA030619701300724
HP:0001336HP:0031986Polyminimyoclonus1COQ8A CL E G H56997139485ORPHA069916812606980
HP:0001336HP:0007000Morning myoclonic jerks1COQ8A CL E G H56997139485ORPHA069916812606980
HP:0001336HP:0040148Cortical myoclonus1COQ8A CL E G H56997139485ORPHA069916812606980
HP:0001336HP:0045084Limb myoclonus1COQ8A CL E G H56997139485ORPHA069916812606980
HP:0001336HP:0010530Palatal myoclonus1COQ8A CL E G H56997139485ORPHA069916812606980
HP:0001336HP:0010531Spinal myoclonus1COQ8A CL E G H56997139485ORPHA069916812606980
HP:0001336HP:0012462Chin myoclonus1COQ8A CL E G H56997139485ORPHA069916812606980
HP:0001336HP:0025097Eyelid myoclonus1COQ8A CL E G H56997139485ORPHA069916812606980
HP:0001336HP:0012323Sleep myoclonus1COQ8A CL E G H56997139485ORPHA069916812606980
HP:0001336HP:0025357Erratic myoclonus1COQ8A CL E G H56997139485ORPHA069916812606980
HP:0001336HP:0003739Myoclonic spasms1COQ8A CL E G H56997139485ORPHA069916812606980
HP:0001336HP:0012462Chin myoclonus1COQ8A CL E G H56997612016Coenzyme Q10 deficiency, primary, 4612016C2677589OMIM069916812606980
HP:0001336HP:0025097Eyelid myoclonus1COQ8A CL E G H56997612016Coenzyme Q10 deficiency, primary, 4612016C2677589OMIM069916812606980
HP:0001336HP:0010531Spinal myoclonus1COQ8A CL E G H56997612016Coenzyme Q10 deficiency, primary, 4612016C2677589OMIM069916812606980
HP:0001336HP:0025357Erratic myoclonus1COQ8A CL E G H56997612016Coenzyme Q10 deficiency, primary, 4612016C2677589OMIM069916812606980
HP:0001336HP:0003739Myoclonic spasms1COQ8A CL E G H56997612016Coenzyme Q10 deficiency, primary, 4612016C2677589OMIM069916812606980
HP:0001336HP:0012323Sleep myoclonus1COQ8A CL E G H56997612016Coenzyme Q10 deficiency, primary, 4612016C2677589OMIM069916812606980
HP:0001336HP:0007000Morning myoclonic jerks1COQ8A CL E G H56997612016Coenzyme Q10 deficiency, primary, 4612016C2677589OMIM069916812606980
HP:0001336HP:0031986Polyminimyoclonus1COQ8A CL E G H56997612016Coenzyme Q10 deficiency, primary, 4612016C2677589OMIM069916812606980
HP:0001336HP:0040148Cortical myoclonus1COQ8A CL E G H56997612016Coenzyme Q10 deficiency, primary, 4612016C2677589OMIM069916812606980
HP:0001336HP:0045084Limb myoclonus1COQ8A CL E G H56997612016Coenzyme Q10 deficiency, primary, 4612016C2677589OMIM069916812606980
HP:0001336HP:0010530Palatal myoclonus1COQ8A CL E G H56997612016Coenzyme Q10 deficiency, primary, 4612016C2677589OMIM069916812606980
HP:0001336HP:0025357Erratic myoclonus1CYFIP2 CL E G H26999442835ORPHA066813760606323
HP:0001336HP:0003739Myoclonic spasms1CYFIP2 CL E G H26999442835ORPHA066813760606323
HP:0001336HP:0012323Sleep myoclonus1CYFIP2 CL E G H26999442835ORPHA066813760606323
HP:0001336HP:0007000Morning myoclonic jerks1CYFIP2 CL E G H26999442835ORPHA066813760606323
HP:0001336HP:0031986Polyminimyoclonus1CYFIP2 CL E G H26999442835ORPHA066813760606323
HP:0001336HP:0040148Cortical myoclonus1CYFIP2 CL E G H26999442835ORPHA066813760606323
HP:0001336HP:0045084Limb myoclonus1CYFIP2 CL E G H26999442835ORPHA066813760606323
HP:0001336HP:0010530Palatal myoclonus1CYFIP2 CL E G H26999442835ORPHA066813760606323
HP:0001336HP:0012462Chin myoclonus1CYFIP2 CL E G H26999442835ORPHA066813760606323
HP:0001336HP:0025097Eyelid myoclonus1CYFIP2 CL E G H26999442835ORPHA066813760606323
HP:0001336HP:0010531Spinal myoclonus1CYFIP2 CL E G H26999442835ORPHA066813760606323
HP:0001336HP:0045084Limb myoclonus1DHDDS CL E G H79947442835ORPHA043420603608172
HP:0001336HP:0010530Palatal myoclonus1DHDDS CL E G H79947442835ORPHA043420603608172
HP:0001336HP:0040148Cortical myoclonus1DHDDS CL E G H79947442835ORPHA043420603608172
HP:0001336HP:0025097Eyelid myoclonus1DHDDS CL E G H79947442835ORPHA043420603608172
HP:0001336HP:0010531Spinal myoclonus1DHDDS CL E G H79947442835ORPHA043420603608172
HP:0001336HP:0012462Chin myoclonus1DHDDS CL E G H79947442835ORPHA043420603608172
HP:0001336HP:0025357Erratic myoclonus1DHDDS CL E G H79947442835ORPHA043420603608172
HP:0001336HP:0003739Myoclonic spasms1DHDDS CL E G H79947442835ORPHA043420603608172
HP:0001336HP:0012323Sleep myoclonus1DHDDS CL E G H79947442835ORPHA043420603608172
HP:0001336HP:0007000Morning myoclonic jerks1DHDDS CL E G H79947442835ORPHA043420603608172
HP:0001336HP:0031986Polyminimyoclonus1DHDDS CL E G H79947442835ORPHA043420603608172
HP:0001336HP:0012323Sleep myoclonus1DNAJC6 CL E G H9829391411ORPHA031015469608375
HP:0001336HP:0025357Erratic myoclonus1DNAJC6 CL E G H9829391411ORPHA031015469608375
HP:0001336HP:0003739Myoclonic spasms1DNAJC6 CL E G H9829391411ORPHA031015469608375
HP:0001336HP:0031986Polyminimyoclonus1DNAJC6 CL E G H9829391411ORPHA031015469608375
HP:0001336HP:0007000Morning myoclonic jerks1DNAJC6 CL E G H9829391411ORPHA031015469608375
HP:0001336HP:0010530Palatal myoclonus1DNAJC6 CL E G H9829391411ORPHA031015469608375
HP:0001336HP:0040148Cortical myoclonus1DNAJC6 CL E G H9829391411ORPHA031015469608375
HP:0001336HP:0045084Limb myoclonus1DNAJC6 CL E G H9829391411ORPHA031015469608375
HP:0001336HP:0010531Spinal myoclonus1DNAJC6 CL E G H9829391411ORPHA031015469608375
HP:0001336HP:0012462Chin myoclonus1DNAJC6 CL E G H9829391411ORPHA031015469608375
HP:0001336HP:0025097Eyelid myoclonus1DNAJC6 CL E G H9829391411ORPHA031015469608375
HP:0001336HP:0012323Sleep myoclonus1DNM1 CL E G H1759442835ORPHA07652972602377
HP:0001336HP:0025357Erratic myoclonus1DNM1 CL E G H1759442835ORPHA07652972602377
HP:0001336HP:0003739Myoclonic spasms1DNM1 CL E G H1759442835ORPHA07652972602377
HP:0001336HP:0031986Polyminimyoclonus1DNM1 CL E G H1759442835ORPHA07652972602377
HP:0001336HP:0007000Morning myoclonic jerks1DNM1 CL E G H1759442835ORPHA07652972602377
HP:0001336HP:0010530Palatal myoclonus1DNM1 CL E G H1759442835ORPHA07652972602377
HP:0001336HP:0040148Cortical myoclonus1DNM1 CL E G H1759442835ORPHA07652972602377
HP:0001336HP:0045084Limb myoclonus1DNM1 CL E G H1759442835ORPHA07652972602377
HP:0001336HP:0010531Spinal myoclonus1DNM1 CL E G H1759442835ORPHA07652972602377
HP:0001336HP:0012462Chin myoclonus1DNM1 CL E G H1759442835ORPHA07652972602377
HP:0001336HP:0025097Eyelid myoclonus1DNM1 CL E G H1759442835ORPHA07652972602377
HP:0001336HP:0040148Cortical myoclonus1EEF1A2 CL E G H1917442835ORPHA05753192602959
HP:0001336HP:0045084Limb myoclonus1EEF1A2 CL E G H1917442835ORPHA05753192602959
HP:0001336HP:0010530Palatal myoclonus1EEF1A2 CL E G H1917442835ORPHA05753192602959
HP:0001336HP:0012462Chin myoclonus1EEF1A2 CL E G H1917442835ORPHA05753192602959
HP:0001336HP:0025097Eyelid myoclonus1EEF1A2 CL E G H1917442835ORPHA05753192602959
HP:0001336HP:0010531Spinal myoclonus1EEF1A2 CL E G H1917442835ORPHA05753192602959
HP:0001336HP:0025357Erratic myoclonus1EEF1A2 CL E G H1917442835ORPHA05753192602959
HP:0001336HP:0003739Myoclonic spasms1EEF1A2 CL E G H1917442835ORPHA05753192602959
HP:0001336HP:0012323Sleep myoclonus1EEF1A2 CL E G H1917442835ORPHA05753192602959
HP:0001336HP:0007000Morning myoclonic jerks1EEF1A2 CL E G H1917442835ORPHA05753192602959
HP:0001336HP:0031986Polyminimyoclonus1EEF1A2 CL E G H1917442835ORPHA05753192602959
HP:0001336HP:0045084Limb myoclonus1EFHC1 CL E G H1143271941ORPHA045416406608815
HP:0001336HP:0010530Palatal myoclonus1EFHC1 CL E G H1143271941ORPHA045416406608815
HP:0001336HP:0040148Cortical myoclonus1EFHC1 CL E G H1143271941ORPHA045416406608815
HP:0001336HP:0025097Eyelid myoclonus1EFHC1 CL E G H1143271941ORPHA045416406608815
HP:0001336HP:0010531Spinal myoclonus1EFHC1 CL E G H1143271941ORPHA045416406608815
HP:0001336HP:0012462Chin myoclonus1EFHC1 CL E G H1143271941ORPHA045416406608815
HP:0001336HP:0025357Erratic myoclonus1EFHC1 CL E G H1143271941ORPHA045416406608815
HP:0001336HP:0003739Myoclonic spasms1EFHC1 CL E G H1143271941ORPHA045416406608815
HP:0001336HP:0012323Sleep myoclonus1EFHC1 CL E G H1143271941ORPHA045416406608815
HP:0001336HP:0007000Morning myoclonic jerks1EFHC1 CL E G H1143271941ORPHA045416406608815
HP:0001336HP:0031986Polyminimyoclonus1EFHC1 CL E G H1143271941ORPHA045416406608815
HP:0001336HP:0025357Erratic myoclonus1FGF12 CL E G H2257442835ORPHA02593668601513
HP:0001336HP:0003739Myoclonic spasms1FGF12 CL E G H2257442835ORPHA02593668601513
HP:0001336HP:0012323Sleep myoclonus1FGF12 CL E G H2257442835ORPHA02593668601513
HP:0001336HP:0007000Morning myoclonic jerks1FGF12 CL E G H2257442835ORPHA02593668601513
HP:0001336HP:0031986Polyminimyoclonus1FGF12 CL E G H2257442835ORPHA02593668601513
HP:0001336HP:0040148Cortical myoclonus1FGF12 CL E G H2257442835ORPHA02593668601513
HP:0001336HP:0045084Limb myoclonus1FGF12 CL E G H2257442835ORPHA02593668601513
HP:0001336HP:0010530Palatal myoclonus1FGF12 CL E G H2257442835ORPHA02593668601513
HP:0001336HP:0012462Chin myoclonus1FGF12 CL E G H2257442835ORPHA02593668601513
HP:0001336HP:0025097Eyelid myoclonus1FGF12 CL E G H2257442835ORPHA02593668601513
HP:0001336HP:0010531Spinal myoclonus1FGF12 CL E G H2257442835ORPHA02593668601513
HP:0001336HP:0045084Limb myoclonus1GABRB2 CL E G H2561442835ORPHA04944082600232
HP:0001336HP:0010530Palatal myoclonus1GABRB2 CL E G H2561442835ORPHA04944082600232
HP:0001336HP:0040148Cortical myoclonus1GABRB2 CL E G H2561442835ORPHA04944082600232
HP:0001336HP:0025097Eyelid myoclonus1GABRB2 CL E G H2561442835ORPHA04944082600232
HP:0001336HP:0010531Spinal myoclonus1GABRB2 CL E G H2561442835ORPHA04944082600232
HP:0001336HP:0012462Chin myoclonus1GABRB2 CL E G H2561442835ORPHA04944082600232
HP:0001336HP:0025357Erratic myoclonus1GABRB2 CL E G H2561442835ORPHA04944082600232
HP:0001336HP:0003739Myoclonic spasms1GABRB2 CL E G H2561442835ORPHA04944082600232
HP:0001336HP:0012323Sleep myoclonus1GABRB2 CL E G H2561442835ORPHA04944082600232
HP:0001336HP:0007000Morning myoclonic jerks1GABRB2 CL E G H2561442835ORPHA04944082600232
HP:0001336HP:0031986Polyminimyoclonus1GABRB2 CL E G H2561442835ORPHA04944082600232
HP:0001336HP:0045084Limb myoclonus1GLRX5 CL E G H51218401866ORPHA011120134609588
HP:0001336HP:0010530Palatal myoclonus1GLRX5 CL E G H51218401866ORPHA011120134609588
HP:0001336HP:0040148Cortical myoclonus1GLRX5 CL E G H51218401866ORPHA011120134609588
HP:0001336HP:0025097Eyelid myoclonus1GLRX5 CL E G H51218401866ORPHA011120134609588
HP:0001336HP:0010531Spinal myoclonus1GLRX5 CL E G H51218401866ORPHA011120134609588
HP:0001336HP:0012462Chin myoclonus1GLRX5 CL E G H51218401866ORPHA011120134609588
HP:0001336HP:0003739Myoclonic spasms1GLRX5 CL E G H51218401866ORPHA011120134609588
HP:0001336HP:0012323Sleep myoclonus1GLRX5 CL E G H51218401866ORPHA011120134609588
HP:0001336HP:0025357Erratic myoclonus1GLRX5 CL E G H51218401866ORPHA011120134609588
HP:0001336HP:0007000Morning myoclonic jerks1GLRX5 CL E G H51218401866ORPHA011120134609588
HP:0001336HP:0031986Polyminimyoclonus1GLRX5 CL E G H51218401866ORPHA011120134609588
HP:0001336HP:0010531Spinal myoclonus1GRIA3 CL E G H2892300699Mental retardation, X-linked, syndromic, wu type300699C2678051OMIM05604573305915
HP:0001336HP:0012462Chin myoclonus1GRIA3 CL E G H2892300699Mental retardation, X-linked, syndromic, wu type300699C2678051OMIM05604573305915
HP:0001336HP:0025097Eyelid myoclonus1GRIA3 CL E G H2892300699Mental retardation, X-linked, syndromic, wu type300699C2678051OMIM05604573305915
HP:0001336HP:0012323Sleep myoclonus1GRIA3 CL E G H2892300699Mental retardation, X-linked, syndromic, wu type300699C2678051OMIM05604573305915
HP:0001336HP:0025357Erratic myoclonus1GRIA3 CL E G H2892300699Mental retardation, X-linked, syndromic, wu type300699C2678051OMIM05604573305915
HP:0001336HP:0003739Myoclonic spasms1GRIA3 CL E G H2892300699Mental retardation, X-linked, syndromic, wu type300699C2678051OMIM05604573305915
HP:0001336HP:0031986Polyminimyoclonus1GRIA3 CL E G H2892300699Mental retardation, X-linked, syndromic, wu type300699C2678051OMIM05604573305915
HP:0001336HP:0007000Morning myoclonic jerks1GRIA3 CL E G H2892300699Mental retardation, X-linked, syndromic, wu type300699C2678051OMIM05604573305915
HP:0001336HP:0040148Cortical myoclonus1GRIA3 CL E G H2892300699Mental retardation, X-linked, syndromic, wu type300699C2678051OMIM05604573305915
HP:0001336HP:0045084Limb myoclonus1GRIA3 CL E G H2892300699Mental retardation, X-linked, syndromic, wu type300699C2678051OMIM05604573305915
HP:0001336HP:0010530Palatal myoclonus1GRIA3 CL E G H2892300699Mental retardation, X-linked, syndromic, wu type300699C2678051OMIM05604573305915
HP:0001336HP:0007000Morning myoclonic jerks1GRIK2 CL E G H2898611092Mental retardation, autosomal recessive 6611092C1970198OMIM01894580138244
HP:0001336HP:0031986Polyminimyoclonus1GRIK2 CL E G H2898611092Mental retardation, autosomal recessive 6611092C1970198OMIM01894580138244
HP:0001336HP:0040148Cortical myoclonus1GRIK2 CL E G H2898611092Mental retardation, autosomal recessive 6611092C1970198OMIM01894580138244
HP:0001336HP:0045084Limb myoclonus1GRIK2 CL E G H2898611092Mental retardation, autosomal recessive 6611092C1970198OMIM01894580138244
HP:0001336HP:0010530Palatal myoclonus1GRIK2 CL E G H2898611092Mental retardation, autosomal recessive 6611092C1970198OMIM01894580138244
HP:0001336HP:0025097Eyelid myoclonus1GRIK2 CL E G H2898611092Mental retardation, autosomal recessive 6611092C1970198OMIM01894580138244
HP:0001336HP:0010531Spinal myoclonus1GRIK2 CL E G H2898611092Mental retardation, autosomal recessive 6611092C1970198OMIM01894580138244
HP:0001336HP:0012462Chin myoclonus1GRIK2 CL E G H2898611092Mental retardation, autosomal recessive 6611092C1970198OMIM01894580138244
HP:0001336HP:0025357Erratic myoclonus1GRIK2 CL E G H2898611092Mental retardation, autosomal recessive 6611092C1970198OMIM01894580138244
HP:0001336HP:0003739Myoclonic spasms1GRIK2 CL E G H2898611092Mental retardation, autosomal recessive 6611092C1970198OMIM01894580138244
HP:0001336HP:0012323Sleep myoclonus1GRIK2 CL E G H2898611092Mental retardation, autosomal recessive 6611092C1970198OMIM01894580138244
HP:0001336HP:0012323Sleep myoclonus1GRIN2D CL E G H2906442835ORPHA08234588602717
HP:0001336HP:0025357Erratic myoclonus1GRIN2D CL E G H2906442835ORPHA08234588602717
HP:0001336HP:0003739Myoclonic spasms1GRIN2D CL E G H2906442835ORPHA08234588602717
HP:0001336HP:0031986Polyminimyoclonus1GRIN2D CL E G H2906442835ORPHA08234588602717
HP:0001336HP:0007000Morning myoclonic jerks1GRIN2D CL E G H2906442835ORPHA08234588602717
HP:0001336HP:0010530Palatal myoclonus1GRIN2D CL E G H2906442835ORPHA08234588602717
HP:0001336HP:0040148Cortical myoclonus1GRIN2D CL E G H2906442835ORPHA08234588602717
HP:0001336HP:0045084Limb myoclonus1GRIN2D CL E G H2906442835ORPHA08234588602717
HP:0001336HP:0010531Spinal myoclonus1GRIN2D CL E G H2906442835ORPHA08234588602717
HP:0001336HP:0012462Chin myoclonus1GRIN2D CL E G H2906442835ORPHA08234588602717
HP:0001336HP:0025097Eyelid myoclonus1GRIN2D CL E G H2906442835ORPHA08234588602717
HP:0001336HP:0040148Cortical myoclonus1HCN1 CL E G H348980442835ORPHA07964845602780
HP:0001336HP:0045084Limb myoclonus1HCN1 CL E G H348980442835ORPHA07964845602780
HP:0001336HP:0010530Palatal myoclonus1HCN1 CL E G H348980442835ORPHA07964845602780
HP:0001336HP:0012462Chin myoclonus1HCN1 CL E G H348980442835ORPHA07964845602780
HP:0001336HP:0025097Eyelid myoclonus1HCN1 CL E G H348980442835ORPHA07964845602780
HP:0001336HP:0010531Spinal myoclonus1HCN1 CL E G H348980442835ORPHA07964845602780
HP:0001336HP:0025357Erratic myoclonus1HCN1 CL E G H348980442835ORPHA07964845602780
HP:0001336HP:0003739Myoclonic spasms1HCN1 CL E G H348980442835ORPHA07964845602780
HP:0001336HP:0012323Sleep myoclonus1HCN1 CL E G H348980442835ORPHA07964845602780
HP:0001336HP:0007000Morning myoclonic jerks1HCN1 CL E G H348980442835ORPHA07964845602780
HP:0001336HP:0031986Polyminimyoclonus1HCN1 CL E G H348980442835ORPHA07964845602780
HP:0001336HP:0031986Polyminimyoclonus1HTT CL E G H3064248111ORPHA07604851613004
HP:0001336HP:0007000Morning myoclonic jerks1HTT CL E G H3064248111ORPHA07604851613004
HP:0001336HP:0040148Cortical myoclonus1HTT CL E G H3064248111ORPHA07604851613004
HP:0001336HP:0045084Limb myoclonus1HTT CL E G H3064248111ORPHA07604851613004
HP:0001336HP:0010530Palatal myoclonus1HTT CL E G H3064248111ORPHA07604851613004
HP:0001336HP:0010531Spinal myoclonus1HTT CL E G H3064248111ORPHA07604851613004
HP:0001336HP:0012462Chin myoclonus1HTT CL E G H3064248111ORPHA07604851613004
HP:0001336HP:0025097Eyelid myoclonus1HTT CL E G H3064248111ORPHA07604851613004
HP:0001336HP:0012323Sleep myoclonus1HTT CL E G H3064248111ORPHA07604851613004
HP:0001336HP:0025357Erratic myoclonus1HTT CL E G H3064248111ORPHA07604851613004
HP:0001336HP:0003739Myoclonic spasms1HTT CL E G H3064248111ORPHA07604851613004
HP:0001336HP:0025357Erratic myoclonus1KCNA2 CL E G H3737442835ORPHA04016220176262
HP:0001336HP:0003739Myoclonic spasms1KCNA2 CL E G H3737442835ORPHA04016220176262
HP:0001336HP:0012323Sleep myoclonus1KCNA2 CL E G H3737442835ORPHA04016220176262
HP:0001336HP:0007000Morning myoclonic jerks1KCNA2 CL E G H3737442835ORPHA04016220176262
HP:0001336HP:0031986Polyminimyoclonus1KCNA2 CL E G H3737442835ORPHA04016220176262
HP:0001336HP:0040148Cortical myoclonus1KCNA2 CL E G H3737442835ORPHA04016220176262
HP:0001336HP:0045084Limb myoclonus1KCNA2 CL E G H3737442835ORPHA04016220176262
HP:0001336HP:0010530Palatal myoclonus1KCNA2 CL E G H3737442835ORPHA04016220176262
HP:0001336HP:0012462Chin myoclonus1KCNA2 CL E G H3737442835ORPHA04016220176262
HP:0001336HP:0025097Eyelid myoclonus1KCNA2 CL E G H3737442835ORPHA04016220176262
HP:0001336HP:0010531Spinal myoclonus1KCNA2 CL E G H3737442835ORPHA04016220176262
HP:0001336HP:0045084Limb myoclonus1KCNB1 CL E G H3745442835ORPHA06356231600397
HP:0001336HP:0010530Palatal myoclonus1KCNB1 CL E G H3745442835ORPHA06356231600397
HP:0001336HP:0040148Cortical myoclonus1KCNB1 CL E G H3745442835ORPHA06356231600397
HP:0001336HP:0025097Eyelid myoclonus1KCNB1 CL E G H3745442835ORPHA06356231600397
HP:0001336HP:0010531Spinal myoclonus1KCNB1 CL E G H3745442835ORPHA06356231600397
HP:0001336HP:0012462Chin myoclonus1KCNB1 CL E G H3745442835ORPHA06356231600397
HP:0001336HP:0025357Erratic myoclonus1KCNB1 CL E G H3745442835ORPHA06356231600397
HP:0001336HP:0003739Myoclonic spasms1KCNB1 CL E G H3745442835ORPHA06356231600397
HP:0001336HP:0012323Sleep myoclonus1KCNB1 CL E G H3745442835ORPHA06356231600397
HP:0001336HP:0007000Morning myoclonic jerks1KCNB1 CL E G H3745442835ORPHA06356231600397
HP:0001336HP:0031986Polyminimyoclonus1KCNB1 CL E G H3745442835ORPHA06356231600397
HP:0001336HP:0012462Chin myoclonus1KCNC3 CL E G H374898768ORPHA03116235176264
HP:0001336HP:0025097Eyelid myoclonus1KCNC3 CL E G H374898768ORPHA03116235176264
HP:0001336HP:0010531Spinal myoclonus1KCNC3 CL E G H374898768ORPHA03116235176264
HP:0001336HP:0025357Erratic myoclonus1KCNC3 CL E G H374898768ORPHA03116235176264
HP:0001336HP:0003739Myoclonic spasms1KCNC3 CL E G H374898768ORPHA03116235176264
HP:0001336HP:0012323Sleep myoclonus1KCNC3 CL E G H374898768ORPHA03116235176264
HP:0001336HP:0007000Morning myoclonic jerks1KCNC3 CL E G H374898768ORPHA03116235176264
HP:0001336HP:0031986Polyminimyoclonus1KCNC3 CL E G H374898768ORPHA03116235176264
HP:0001336HP:0040148Cortical myoclonus1KCNC3 CL E G H374898768ORPHA03116235176264
HP:0001336HP:0045084Limb myoclonus1KCNC3 CL E G H374898768ORPHA03116235176264
HP:0001336HP:0010530Palatal myoclonus1KCNC3 CL E G H374898768ORPHA03116235176264
HP:0001336HP:0040148Cortical myoclonus1KMT2B CL E G H9757617284Dystonia 28, childhood-onset617284C4310633OMIM0130315840606834
HP:0001336HP:0045084Limb myoclonus1KMT2B CL E G H9757617284Dystonia 28, childhood-onset617284C4310633OMIM0130315840606834
HP:0001336HP:0010530Palatal myoclonus1KMT2B CL E G H9757617284Dystonia 28, childhood-onset617284C4310633OMIM0130315840606834
HP:0001336HP:0012462Chin myoclonus1KMT2B CL E G H9757617284Dystonia 28, childhood-onset617284C4310633OMIM0130315840606834
HP:0001336HP:0025097Eyelid myoclonus1KMT2B CL E G H9757617284Dystonia 28, childhood-onset617284C4310633OMIM0130315840606834
HP:0001336HP:0010531Spinal myoclonus1KMT2B CL E G H9757617284Dystonia 28, childhood-onset617284C4310633OMIM0130315840606834
HP:0001336HP:0025357Erratic myoclonus1KMT2B CL E G H9757617284Dystonia 28, childhood-onset617284C4310633OMIM0130315840606834
HP:0001336HP:0003739Myoclonic spasms1KMT2B CL E G H9757617284Dystonia 28, childhood-onset617284C4310633OMIM0130315840606834
HP:0001336HP:0012323Sleep myoclonus1KMT2B CL E G H9757617284Dystonia 28, childhood-onset617284C4310633OMIM0130315840606834
HP:0001336HP:0007000Morning myoclonic jerks1KMT2B CL E G H9757617284Dystonia 28, childhood-onset617284C4310633OMIM0130315840606834
HP:0001336HP:0031986Polyminimyoclonus1KMT2B CL E G H9757617284Dystonia 28, childhood-onset617284C4310633OMIM0130315840606834
HP:0001336HP:0012462Chin myoclonus1MRE11 CL E G H4361251347ORPHA019117230600814
HP:0001336HP:0025097Eyelid myoclonus1MRE11 CL E G H4361251347ORPHA019117230600814
HP:0001336HP:0010531Spinal myoclonus1MRE11 CL E G H4361251347ORPHA019117230600814
HP:0001336HP:0025357Erratic myoclonus1MRE11 CL E G H4361251347ORPHA019117230600814
HP:0001336HP:0003739Myoclonic spasms1MRE11 CL E G H4361251347ORPHA019117230600814
HP:0001336HP:0012323Sleep myoclonus1MRE11 CL E G H4361251347ORPHA019117230600814
HP:0001336HP:0007000Morning myoclonic jerks1MRE11 CL E G H4361251347ORPHA019117230600814
HP:0001336HP:0031986Polyminimyoclonus1MRE11 CL E G H4361251347ORPHA019117230600814
HP:0001336HP:0040148Cortical myoclonus1MRE11 CL E G H4361251347ORPHA019117230600814
HP:0001336HP:0045084Limb myoclonus1MRE11 CL E G H4361251347ORPHA019117230600814
HP:0001336HP:0010530Palatal myoclonus1MRE11 CL E G H4361251347ORPHA019117230600814
HP:0001336HP:0007000Morning myoclonic jerks1MT-ATP6 CL E G H4508225154ORPHA07414516060
HP:0001336HP:0031986Polyminimyoclonus1MT-ATP6 CL E G H4508225154ORPHA07414516060
HP:0001336HP:0040148Cortical myoclonus1MT-ATP6 CL E G H4508225154ORPHA07414516060
HP:0001336HP:0045084Limb myoclonus1MT-ATP6 CL E G H4508225154ORPHA07414516060
HP:0001336HP:0010530Palatal myoclonus1MT-ATP6 CL E G H4508225154ORPHA07414516060
HP:0001336HP:0012462Chin myoclonus1MT-ATP6 CL E G H4508225154ORPHA07414516060
HP:0001336HP:0025097Eyelid myoclonus1MT-ATP6 CL E G H4508225154ORPHA07414516060
HP:0001336HP:0010531Spinal myoclonus1MT-ATP6 CL E G H4508225154ORPHA07414516060
HP:0001336HP:0025357Erratic myoclonus1MT-ATP6 CL E G H4508225154ORPHA07414516060
HP:0001336HP:0003739Myoclonic spasms1MT-ATP6 CL E G H4508225154ORPHA07414516060
HP:0001336HP:0012323Sleep myoclonus1MT-ATP6 CL E G H4508225154ORPHA07414516060
HP:0001336HP:0012323Sleep myoclonus1NECAP1 CL E G H25977442835ORPHA022124539611623
HP:0001336HP:0025357Erratic myoclonus1NECAP1 CL E G H25977442835ORPHA022124539611623
HP:0001336HP:0003739Myoclonic spasms1NECAP1 CL E G H25977442835ORPHA022124539611623
HP:0001336HP:0031986Polyminimyoclonus1NECAP1 CL E G H25977442835ORPHA022124539611623
HP:0001336HP:0007000Morning myoclonic jerks1NECAP1 CL E G H25977442835ORPHA022124539611623
HP:0001336HP:0010530Palatal myoclonus1NECAP1 CL E G H25977442835ORPHA022124539611623
HP:0001336HP:0040148Cortical myoclonus1NECAP1 CL E G H25977442835ORPHA022124539611623
HP:0001336HP:0045084Limb myoclonus1NECAP1 CL E G H25977442835ORPHA022124539611623
HP:0001336HP:0010531Spinal myoclonus1NECAP1 CL E G H25977442835ORPHA022124539611623
HP:0001336HP:0012462Chin myoclonus1NECAP1 CL E G H25977442835ORPHA022124539611623
HP:0001336HP:0025097Eyelid myoclonus1NECAP1 CL E G H25977442835ORPHA022124539611623
HP:0001336HP:0040148Cortical myoclonus1NTRK2 CL E G H4915442835ORPHA05098032600456
HP:0001336HP:0045084Limb myoclonus1NTRK2 CL E G H4915442835ORPHA05098032600456
HP:0001336HP:0010530Palatal myoclonus1NTRK2 CL E G H4915442835ORPHA05098032600456
HP:0001336HP:0010531Spinal myoclonus1NTRK2 CL E G H4915442835ORPHA05098032600456
HP:0001336HP:0012462Chin myoclonus1NTRK2 CL E G H4915442835ORPHA05098032600456
HP:0001336HP:0025097Eyelid myoclonus1NTRK2 CL E G H4915442835ORPHA05098032600456
HP:0001336HP:0025357Erratic myoclonus1NTRK2 CL E G H4915442835ORPHA05098032600456
HP:0001336HP:0003739Myoclonic spasms1NTRK2 CL E G H4915442835ORPHA05098032600456
HP:0001336HP:0012323Sleep myoclonus1NTRK2 CL E G H4915442835ORPHA05098032600456
HP:0001336HP:0007000Morning myoclonic jerks1NTRK2 CL E G H4915442835ORPHA05098032600456
HP:0001336HP:0031986Polyminimyoclonus1NTRK2 CL E G H4915442835ORPHA05098032600456
HP:0001336HP:0010531Spinal myoclonus1NUP62 CL E G H23636225154ORPHA01618066605815
HP:0001336HP:0012462Chin myoclonus1NUP62 CL E G H23636225154ORPHA01618066605815
HP:0001336HP:0025097Eyelid myoclonus1NUP62 CL E G H23636225154ORPHA01618066605815
HP:0001336HP:0003739Myoclonic spasms1NUP62 CL E G H23636225154ORPHA01618066605815
HP:0001336HP:0012323Sleep myoclonus1NUP62 CL E G H23636225154ORPHA01618066605815
HP:0001336HP:0025357Erratic myoclonus1NUP62 CL E G H23636225154ORPHA01618066605815
HP:0001336HP:0007000Morning myoclonic jerks1NUP62 CL E G H23636225154ORPHA01618066605815
HP:0001336HP:0031986Polyminimyoclonus1NUP62 CL E G H23636225154ORPHA01618066605815
HP:0001336HP:0045084Limb myoclonus1NUP62 CL E G H23636225154ORPHA01618066605815
HP:0001336HP:0010530Palatal myoclonus1NUP62 CL E G H23636225154ORPHA01618066605815
HP:0001336HP:0040148Cortical myoclonus1NUP62 CL E G H23636225154ORPHA01618066605815
HP:0001336HP:0025357Erratic myoclonus1NUS1 CL E G H116150442835ORPHA032621042610463
HP:0001336HP:0003739Myoclonic spasms1NUS1 CL E G H116150442835ORPHA032621042610463
HP:0001336HP:0012323Sleep myoclonus1NUS1 CL E G H116150442835ORPHA032621042610463
HP:0001336HP:0007000Morning myoclonic jerks1NUS1 CL E G H116150442835ORPHA032621042610463
HP:0001336HP:0031986Polyminimyoclonus1NUS1 CL E G H116150442835ORPHA032621042610463
HP:0001336HP:0040148Cortical myoclonus1NUS1 CL E G H116150442835ORPHA032621042610463
HP:0001336HP:0045084Limb myoclonus1NUS1 CL E G H116150442835ORPHA032621042610463
HP:0001336HP:0010530Palatal myoclonus1NUS1 CL E G H116150442835ORPHA032621042610463
HP:0001336HP:0012462Chin myoclonus1NUS1 CL E G H116150442835ORPHA032621042610463
HP:0001336HP:0025097Eyelid myoclonus1NUS1 CL E G H116150442835ORPHA032621042610463
HP:0001336HP:0010531Spinal myoclonus1NUS1 CL E G H116150442835ORPHA032621042610463
HP:0001336HP:0031986Polyminimyoclonus1PLA2G6 CL E G H8398199351ORPHA07759039603604
HP:0001336HP:0007000Morning myoclonic jerks1PLA2G6 CL E G H8398199351ORPHA07759039603604
HP:0001336HP:0040148Cortical myoclonus1PLA2G6 CL E G H8398199351ORPHA07759039603604
HP:0001336HP:0045084Limb myoclonus1PLA2G6 CL E G H8398199351ORPHA07759039603604
HP:0001336HP:0010530Palatal myoclonus1PLA2G6 CL E G H8398199351ORPHA07759039603604
HP:0001336HP:0010531Spinal myoclonus1PLA2G6 CL E G H8398199351ORPHA07759039603604
HP:0001336HP:0012462Chin myoclonus1PLA2G6 CL E G H8398199351ORPHA07759039603604
HP:0001336HP:0025097Eyelid myoclonus1PLA2G6 CL E G H8398199351ORPHA07759039603604
HP:0001336HP:0012323Sleep myoclonus1PLA2G6 CL E G H8398199351ORPHA07759039603604
HP:0001336HP:0025357Erratic myoclonus1PLA2G6 CL E G H8398199351ORPHA07759039603604
HP:0001336HP:0003739Myoclonic spasms1PLA2G6 CL E G H8398199351ORPHA07759039603604
HP:0001336HP:0040148Cortical myoclonus1PODXL CL E G H5420391411ORPHA02009171602632
HP:0001336HP:0045084Limb myoclonus1PODXL CL E G H5420391411ORPHA02009171602632
HP:0001336HP:0010530Palatal myoclonus1PODXL CL E G H5420391411ORPHA02009171602632
HP:0001336HP:0012462Chin myoclonus1PODXL CL E G H5420391411ORPHA02009171602632
HP:0001336HP:0025097Eyelid myoclonus1PODXL CL E G H5420391411ORPHA02009171602632
HP:0001336HP:0010531Spinal myoclonus1PODXL CL E G H5420391411ORPHA02009171602632
HP:0001336HP:0025357Erratic myoclonus1PODXL CL E G H5420391411ORPHA02009171602632
HP:0001336HP:0003739Myoclonic spasms1PODXL CL E G H5420391411ORPHA02009171602632
HP:0001336HP:0012323Sleep myoclonus1PODXL CL E G H5420391411ORPHA02009171602632
HP:0001336HP:0007000Morning myoclonic jerks1PODXL CL E G H5420391411ORPHA02009171602632
HP:0001336HP:0031986Polyminimyoclonus1PODXL CL E G H5420391411ORPHA02009171602632
HP:0001336HP:0045084Limb myoclonus1PPP3CA CL E G H5530442835ORPHA03519314114105
HP:0001336HP:0010530Palatal myoclonus1PPP3CA CL E G H5530442835ORPHA03519314114105
HP:0001336HP:0040148Cortical myoclonus1PPP3CA CL E G H5530442835ORPHA03519314114105
HP:0001336HP:0025097Eyelid myoclonus1PPP3CA CL E G H5530442835ORPHA03519314114105
HP:0001336HP:0010531Spinal myoclonus1PPP3CA CL E G H5530442835ORPHA03519314114105
HP:0001336HP:0012462Chin myoclonus1PPP3CA CL E G H5530442835ORPHA03519314114105
HP:0001336HP:0025357Erratic myoclonus1PPP3CA CL E G H5530442835ORPHA03519314114105
HP:0001336HP:0003739Myoclonic spasms1PPP3CA CL E G H5530442835ORPHA03519314114105
HP:0001336HP:0012323Sleep myoclonus1PPP3CA CL E G H5530442835ORPHA03519314114105
HP:0001336HP:0007000Morning myoclonic jerks1PPP3CA CL E G H5530442835ORPHA03519314114105
HP:0001336HP:0031986Polyminimyoclonus1PPP3CA CL E G H5530442835ORPHA03519314114105
HP:0001336HP:0031986Polyminimyoclonus1PRKCG CL E G H558298763ORPHA03239402176980
HP:0001336HP:0007000Morning myoclonic jerks1PRKCG CL E G H558298763ORPHA03239402176980
HP:0001336HP:0040148Cortical myoclonus1PRKCG CL E G H558298763ORPHA03239402176980
HP:0001336HP:0045084Limb myoclonus1PRKCG CL E G H558298763ORPHA03239402176980
HP:0001336HP:0010530Palatal myoclonus1PRKCG CL E G H558298763ORPHA03239402176980
HP:0001336HP:0010531Spinal myoclonus1PRKCG CL E G H558298763ORPHA03239402176980
HP:0001336HP:0012462Chin myoclonus1PRKCG CL E G H558298763ORPHA03239402176980
HP:0001336HP:0025097Eyelid myoclonus1PRKCG CL E G H558298763ORPHA03239402176980
HP:0001336HP:0012323Sleep myoclonus1PRKCG CL E G H558298763ORPHA03239402176980
HP:0001336HP:0025357Erratic myoclonus1PRKCG CL E G H558298763ORPHA03239402176980
HP:0001336HP:0003739Myoclonic spasms1PRKCG CL E G H558298763ORPHA03239402176980
HP:0001336HP:0012323Sleep myoclonus1PTS CL E G H580513Brain malformationC0266449ORPHA02639689612719
HP:0001336HP:0025357Erratic myoclonus1PTS CL E G H580513Brain malformationC0266449ORPHA02639689612719
HP:0001336HP:0003739Myoclonic spasms1PTS CL E G H580513Brain malformationC0266449ORPHA02639689612719
HP:0001336HP:0031986Polyminimyoclonus1PTS CL E G H580513Brain malformationC0266449ORPHA02639689612719
HP:0001336HP:0007000Morning myoclonic jerks1PTS CL E G H580513Brain malformationC0266449ORPHA02639689612719
HP:0001336HP:0010530Palatal myoclonus1PTS CL E G H580513Brain malformationC0266449ORPHA02639689612719
HP:0001336HP:0040148Cortical myoclonus1PTS CL E G H580513Brain malformationC0266449ORPHA02639689612719
HP:0001336HP:0045084Limb myoclonus1PTS CL E G H580513Brain malformationC0266449ORPHA02639689612719
HP:0001336HP:0010531Spinal myoclonus1PTS CL E G H580513Brain malformationC0266449ORPHA02639689612719
HP:0001336HP:0012462Chin myoclonus1PTS CL E G H580513Brain malformationC0266449ORPHA02639689612719
HP:0001336HP:0025097Eyelid myoclonus1PTS CL E G H580513Brain malformationC0266449ORPHA02639689612719
HP:0001336HP:0010531Spinal myoclonus1RMND1 CL E G H55005614922Combined oxidative phosphorylation deficiency 11614922C3554067OMIM026221176614917
HP:0001336HP:0012462Chin myoclonus1RMND1 CL E G H55005614922Combined oxidative phosphorylation deficiency 11614922C3554067OMIM026221176614917
HP:0001336HP:0025097Eyelid myoclonus1RMND1 CL E G H55005614922Combined oxidative phosphorylation deficiency 11614922C3554067OMIM026221176614917
HP:0001336HP:0003739Myoclonic spasms1RMND1 CL E G H55005614922Combined oxidative phosphorylation deficiency 11614922C3554067OMIM026221176614917
HP:0001336HP:0012323Sleep myoclonus1RMND1 CL E G H55005614922Combined oxidative phosphorylation deficiency 11614922C3554067OMIM026221176614917
HP:0001336HP:0025357Erratic myoclonus1RMND1 CL E G H55005614922Combined oxidative phosphorylation deficiency 11614922C3554067OMIM026221176614917
HP:0001336HP:0007000Morning myoclonic jerks1RMND1 CL E G H55005614922Combined oxidative phosphorylation deficiency 11614922C3554067OMIM026221176614917
HP:0001336HP:0031986Polyminimyoclonus1RMND1 CL E G H55005614922Combined oxidative phosphorylation deficiency 11614922C3554067OMIM026221176614917
HP:0001336HP:0045084Limb myoclonus1RMND1 CL E G H55005614922Combined oxidative phosphorylation deficiency 11614922C3554067OMIM026221176614917
HP:0001336HP:0010530Palatal myoclonus1RMND1 CL E G H55005614922Combined oxidative phosphorylation deficiency 11614922C3554067OMIM026221176614917
HP:0001336HP:0040148Cortical myoclonus1RMND1 CL E G H55005614922Combined oxidative phosphorylation deficiency 11614922C3554067OMIM026221176614917
HP:0001336HP:0012323Sleep myoclonus1SCN3A CL E G H6328442835ORPHA0142010590182391
HP:0001336HP:0025357Erratic myoclonus1SCN3A CL E G H6328442835ORPHA0142010590182391
HP:0001336HP:0003739Myoclonic spasms1SCN3A CL E G H6328442835ORPHA0142010590182391
HP:0001336HP:0031986Polyminimyoclonus1SCN3A CL E G H6328442835ORPHA0142010590182391
HP:0001336HP:0007000Morning myoclonic jerks1SCN3A CL E G H6328442835ORPHA0142010590182391
HP:0001336HP:0010530Palatal myoclonus1SCN3A CL E G H6328442835ORPHA0142010590182391
HP:0001336HP:0040148Cortical myoclonus1SCN3A CL E G H6328442835ORPHA0142010590182391
HP:0001336HP:0045084Limb myoclonus1SCN3A CL E G H6328442835ORPHA0142010590182391
HP:0001336HP:0010531Spinal myoclonus1SCN3A CL E G H6328442835ORPHA0142010590182391
HP:0001336HP:0012462Chin myoclonus1SCN3A CL E G H6328442835ORPHA0142010590182391
HP:0001336HP:0025097Eyelid myoclonus1SCN3A CL E G H6328442835ORPHA0142010590182391
HP:0001336HP:0040148Cortical myoclonus1SCN8A CL E G H6334442835ORPHA0179910596600702
HP:0001336HP:0045084Limb myoclonus1SCN8A CL E G H6334442835ORPHA0179910596600702
HP:0001336HP:0010530Palatal myoclonus1SCN8A CL E G H6334442835ORPHA0179910596600702
HP:0001336HP:0010531Spinal myoclonus1SCN8A CL E G H6334442835ORPHA0179910596600702
HP:0001336HP:0012462Chin myoclonus1SCN8A CL E G H6334442835ORPHA0179910596600702
HP:0001336HP:0025097Eyelid myoclonus1SCN8A CL E G H6334442835ORPHA0179910596600702
HP:0001336HP:0025357Erratic myoclonus1SCN8A CL E G H6334442835ORPHA0179910596600702
HP:0001336HP:0003739Myoclonic spasms1SCN8A CL E G H6334442835ORPHA0179910596600702
HP:0001336HP:0012323Sleep myoclonus1SCN8A CL E G H6334442835ORPHA0179910596600702
HP:0001336HP:0007000Morning myoclonic jerks1SCN8A CL E G H6334442835ORPHA0179910596600702
HP:0001336HP:0031986Polyminimyoclonus1SCN8A CL E G H6334442835ORPHA0179910596600702
HP:0001336HP:0025357Erratic myoclonus1SLC13A5 CL E G H284111442835ORPHA068523089608305
HP:0001336HP:0003739Myoclonic spasms1SLC13A5 CL E G H284111442835ORPHA068523089608305
HP:0001336HP:0012323Sleep myoclonus1SLC13A5 CL E G H284111442835ORPHA068523089608305
HP:0001336HP:0007000Morning myoclonic jerks1SLC13A5 CL E G H284111442835ORPHA068523089608305
HP:0001336HP:0031986Polyminimyoclonus1SLC13A5 CL E G H284111442835ORPHA068523089608305
HP:0001336HP:0040148Cortical myoclonus1SLC13A5 CL E G H284111442835ORPHA068523089608305
HP:0001336HP:0045084Limb myoclonus1SLC13A5 CL E G H284111442835ORPHA068523089608305
HP:0001336HP:0010530Palatal myoclonus1SLC13A5 CL E G H284111442835ORPHA068523089608305
HP:0001336HP:0012462Chin myoclonus1SLC13A5 CL E G H284111442835ORPHA068523089608305
HP:0001336HP:0025097Eyelid myoclonus1SLC13A5 CL E G H284111442835ORPHA068523089608305
HP:0001336HP:0010531Spinal myoclonus1SLC13A5 CL E G H284111442835ORPHA068523089608305
HP:0001336HP:0045084Limb myoclonus1SLC1A2 CL E G H6506442835ORPHA035910940600300
HP:0001336HP:0010530Palatal myoclonus1SLC1A2 CL E G H6506442835ORPHA035910940600300
HP:0001336HP:0040148Cortical myoclonus1SLC1A2 CL E G H6506442835ORPHA035910940600300
HP:0001336HP:0025097Eyelid myoclonus1SLC1A2 CL E G H6506442835ORPHA035910940600300
HP:0001336HP:0010531Spinal myoclonus1SLC1A2 CL E G H6506442835ORPHA035910940600300
HP:0001336HP:0012462Chin myoclonus1SLC1A2 CL E G H6506442835ORPHA035910940600300
HP:0001336HP:0025357Erratic myoclonus1SLC1A2 CL E G H6506442835ORPHA035910940600300
HP:0001336HP:0003739Myoclonic spasms1SLC1A2 CL E G H6506442835ORPHA035910940600300
HP:0001336HP:0012323Sleep myoclonus1SLC1A2 CL E G H6506442835ORPHA035910940600300
HP:0001336HP:0007000Morning myoclonic jerks1SLC1A2 CL E G H6506442835ORPHA035910940600300
HP:0001336HP:0031986Polyminimyoclonus1SLC1A2 CL E G H6506442835ORPHA035910940600300
HP:0001336HP:0007000Morning myoclonic jerks1SLC2A1 CL E G H651371277ORPHA096511005138140
HP:0001336HP:0031986Polyminimyoclonus1SLC2A1 CL E G H651371277ORPHA096511005138140
HP:0001336HP:0040148Cortical myoclonus1SLC2A1 CL E G H651371277ORPHA096511005138140
HP:0001336HP:0045084Limb myoclonus1SLC2A1 CL E G H651371277ORPHA096511005138140
HP:0001336HP:0010530Palatal myoclonus1SLC2A1 CL E G H651371277ORPHA096511005138140
HP:0001336HP:0025097Eyelid myoclonus1SLC2A1 CL E G H651371277ORPHA096511005138140
HP:0001336HP:0010531Spinal myoclonus1SLC2A1 CL E G H651371277ORPHA096511005138140
HP:0001336HP:0012462Chin myoclonus1SLC2A1 CL E G H651371277ORPHA096511005138140
HP:0001336HP:0025357Erratic myoclonus1SLC2A1 CL E G H651371277ORPHA096511005138140
HP:0001336HP:0003739Myoclonic spasms1SLC2A1 CL E G H651371277ORPHA096511005138140
HP:0001336HP:0012323Sleep myoclonus1SLC2A1 CL E G H651371277ORPHA096511005138140
HP:0001336HP:0010531Spinal myoclonus1SLC6A1 CL E G H65291942ORPHA080911042137165
HP:0001336HP:0025097Eyelid myoclonus1SLC6A1 CL E G H65291942ORPHA080911042137165
HP:0001336HP:0040148Cortical myoclonus1SLC6A1 CL E G H65291942ORPHA080911042137165
HP:0001336HP:0003739Myoclonic spasms1SLC6A1 CL E G H65291942ORPHA080911042137165
HP:0001336HP:0012323Sleep myoclonus1SLC6A1 CL E G H65291942ORPHA080911042137165
HP:0001336HP:0025357Erratic myoclonus1SLC6A1 CL E G H65291942ORPHA080911042137165
HP:0001336HP:0012462Chin myoclonus1SLC6A1 CL E G H65291942ORPHA080911042137165
HP:0001336HP:0031986Polyminimyoclonus1SLC6A1 CL E G H65291942ORPHA080911042137165
HP:0001336HP:0007000Morning myoclonic jerks1SLC6A1 CL E G H65291942ORPHA080911042137165
HP:0001336HP:0010530Palatal myoclonus1SLC6A1 CL E G H65291942ORPHA080911042137165
HP:0001336HP:0045084Limb myoclonus1SLC6A1 CL E G H65291942ORPHA080911042137165
HP:0001336HP:0010530Palatal myoclonus1STXBP1 CL E G H6812442835ORPHA0101711444602926
HP:0001336HP:0025357Erratic myoclonus1STXBP1 CL E G H6812442835ORPHA0101711444602926
HP:0001336HP:0010531Spinal myoclonus1STXBP1 CL E G H6812442835ORPHA0101711444602926
HP:0001336HP:0007000Morning myoclonic jerks1STXBP1 CL E G H6812442835ORPHA0101711444602926
HP:0001336HP:0003739Myoclonic spasms1STXBP1 CL E G H6812442835ORPHA0101711444602926
HP:0001336HP:0012323Sleep myoclonus1STXBP1 CL E G H6812442835ORPHA0101711444602926
HP:0001336HP:0040148Cortical myoclonus1STXBP1 CL E G H6812442835ORPHA0101711444602926
HP:0001336HP:0045084Limb myoclonus1STXBP1 CL E G H6812442835ORPHA0101711444602926
HP:0001336HP:0031986Polyminimyoclonus1STXBP1 CL E G H6812442835ORPHA0101711444602926
HP:0001336HP:0012462Chin myoclonus1STXBP1 CL E G H6812442835ORPHA0101711444602926
HP:0001336HP:0025097Eyelid myoclonus1STXBP1 CL E G H6812442835ORPHA0101711444602926
HP:0001336HP:0025357Erratic myoclonus1SYNGAP1 CL E G H8831442835ORPHA0133511497603384
HP:0001336HP:0003739Myoclonic spasms1SYNGAP1 CL E G H8831442835ORPHA0133511497603384
HP:0001336HP:0012323Sleep myoclonus1SYNGAP1 CL E G H8831442835ORPHA0133511497603384
HP:0001336HP:0007000Morning myoclonic jerks1SYNGAP1 CL E G H8831442835ORPHA0133511497603384
HP:0001336HP:0031986Polyminimyoclonus1SYNGAP1 CL E G H8831442835ORPHA0133511497603384
HP:0001336HP:0040148Cortical myoclonus1SYNGAP1 CL E G H8831442835ORPHA0133511497603384
HP:0001336HP:0045084Limb myoclonus1SYNGAP1 CL E G H8831442835ORPHA0133511497603384
HP:0001336HP:0010530Palatal myoclonus1SYNGAP1 CL E G H8831442835ORPHA0133511497603384
HP:0001336HP:0010531Spinal myoclonus1SYNGAP1 CL E G H8831442835ORPHA0133511497603384
HP:0001336HP:0012462Chin myoclonus1SYNGAP1 CL E G H8831442835ORPHA0133511497603384
HP:0001336HP:0025097Eyelid myoclonus1SYNGAP1 CL E G H8831442835ORPHA0133511497603384
HP:0001336HP:0040148Cortical myoclonus1SYNJ1 CL E G H8867442835ORPHA0131511503604297
HP:0001336HP:0045084Limb myoclonus1SYNJ1 CL E G H8867442835ORPHA0131511503604297
HP:0001336HP:0010530Palatal myoclonus1SYNJ1 CL E G H8867442835ORPHA0131511503604297
HP:0001336HP:0025357Erratic myoclonus1SYNJ1 CL E G H8867391411ORPHA0131511503604297
HP:0001336HP:0003739Myoclonic spasms1SYNJ1 CL E G H8867391411ORPHA0131511503604297
HP:0001336HP:0012323Sleep myoclonus1SYNJ1 CL E G H8867391411ORPHA0131511503604297
HP:0001336HP:0012462Chin myoclonus1SYNJ1 CL E G H8867442835ORPHA0131511503604297
HP:0001336HP:0025097Eyelid myoclonus1SYNJ1 CL E G H8867442835ORPHA0131511503604297
HP:0001336HP:0010531Spinal myoclonus1SYNJ1 CL E G H8867442835ORPHA0131511503604297
HP:0001336HP:0007000Morning myoclonic jerks1SYNJ1 CL E G H8867391411ORPHA0131511503604297
HP:0001336HP:0031986Polyminimyoclonus1SYNJ1 CL E G H8867391411ORPHA0131511503604297
HP:0001336HP:0025357Erratic myoclonus1SYNJ1 CL E G H8867442835ORPHA0131511503604297
HP:0001336HP:0003739Myoclonic spasms1SYNJ1 CL E G H8867442835ORPHA0131511503604297
HP:0001336HP:0012323Sleep myoclonus1SYNJ1 CL E G H8867442835ORPHA0131511503604297
HP:0001336HP:0040148Cortical myoclonus1SYNJ1 CL E G H8867391411ORPHA0131511503604297
HP:0001336HP:0045084Limb myoclonus1SYNJ1 CL E G H8867391411ORPHA0131511503604297
HP:0001336HP:0010530Palatal myoclonus1SYNJ1 CL E G H8867391411ORPHA0131511503604297
HP:0001336HP:0007000Morning myoclonic jerks1SYNJ1 CL E G H8867442835ORPHA0131511503604297
HP:0001336HP:0031986Polyminimyoclonus1SYNJ1 CL E G H8867442835ORPHA0131511503604297
HP:0001336HP:0012462Chin myoclonus1SYNJ1 CL E G H8867391411ORPHA0131511503604297
HP:0001336HP:0025097Eyelid myoclonus1SYNJ1 CL E G H8867391411ORPHA0131511503604297
HP:0001336HP:0010531Spinal myoclonus1SYNJ1 CL E G H8867391411ORPHA0131511503604297
HP:0001336HP:0025357Erratic myoclonus1SZT2 CL E G H23334442835ORPHA0286229040615463
HP:0001336HP:0003739Myoclonic spasms1SZT2 CL E G H23334442835ORPHA0286229040615463
HP:0001336HP:0012323Sleep myoclonus1SZT2 CL E G H23334442835ORPHA0286229040615463
HP:0001336HP:0007000Morning myoclonic jerks1SZT2 CL E G H23334442835ORPHA0286229040615463
HP:0001336HP:0031986Polyminimyoclonus1SZT2 CL E G H23334442835ORPHA0286229040615463
HP:0001336HP:0045084Limb myoclonus1SZT2 CL E G H23334442835ORPHA0286229040615463
HP:0001336HP:0010530Palatal myoclonus1SZT2 CL E G H23334442835ORPHA0286229040615463
HP:0001336HP:0040148Cortical myoclonus1SZT2 CL E G H23334442835ORPHA0286229040615463
HP:0001336HP:0025097Eyelid myoclonus1SZT2 CL E G H23334442835ORPHA0286229040615463
HP:0001336HP:0010531Spinal myoclonus1SZT2 CL E G H23334442835ORPHA0286229040615463
HP:0001336HP:0012462Chin myoclonus1SZT2 CL E G H23334442835ORPHA0286229040615463
HP:0001336HP:0012462Chin myoclonus1TBC1D24 CL E G H5746579500ORPHA089329203613577
HP:0001336HP:0025097Eyelid myoclonus1TBC1D24 CL E G H5746579500ORPHA089329203613577
HP:0001336HP:0010531Spinal myoclonus1TBC1D24 CL E G H5746579500ORPHA089329203613577
HP:0001336HP:0025357Erratic myoclonus1TBC1D24 CL E G H5746579500ORPHA089329203613577
HP:0001336HP:0003739Myoclonic spasms1TBC1D24 CL E G H5746579500ORPHA089329203613577
HP:0001336HP:0012323Sleep myoclonus1TBC1D24 CL E G H5746579500ORPHA089329203613577
HP:0001336HP:0007000Morning myoclonic jerks1TBC1D24 CL E G H5746579500ORPHA089329203613577
HP:0001336HP:0031986Polyminimyoclonus1TBC1D24 CL E G H5746579500ORPHA089329203613577
HP:0001336HP:0040148Cortical myoclonus1TBC1D24 CL E G H5746579500ORPHA089329203613577
HP:0001336HP:0045084Limb myoclonus1TBC1D24 CL E G H5746579500ORPHA089329203613577
HP:0001336HP:0010530Palatal myoclonus1TBC1D24 CL E G H5746579500ORPHA089329203613577
HP:0001336HP:0010531Spinal myoclonus1TH CL E G H7054605407Segawa syndrome, autosomal recessive605407C1854299OMIM096711782191290
HP:0001336HP:0012462Chin myoclonus1TH CL E G H7054605407Segawa syndrome, autosomal recessive605407C1854299OMIM096711782191290
HP:0001336HP:0025097Eyelid myoclonus1TH CL E G H7054605407Segawa syndrome, autosomal recessive605407C1854299OMIM096711782191290
HP:0001336HP:0012323Sleep myoclonus1TH CL E G H7054605407Segawa syndrome, autosomal recessive605407C1854299OMIM096711782191290
HP:0001336HP:0025357Erratic myoclonus1TH CL E G H7054605407Segawa syndrome, autosomal recessive605407C1854299OMIM096711782191290
HP:0001336HP:0003739Myoclonic spasms1TH CL E G H7054605407Segawa syndrome, autosomal recessive605407C1854299OMIM096711782191290
HP:0001336HP:0031986Polyminimyoclonus1TH CL E G H7054605407Segawa syndrome, autosomal recessive605407C1854299OMIM096711782191290
HP:0001336HP:0007000Morning myoclonic jerks1TH CL E G H7054605407Segawa syndrome, autosomal recessive605407C1854299OMIM096711782191290
HP:0001336HP:0010530Palatal myoclonus1TH CL E G H7054605407Segawa syndrome, autosomal recessive605407C1854299OMIM096711782191290
HP:0001336HP:0040148Cortical myoclonus1TH CL E G H7054605407Segawa syndrome, autosomal recessive605407C1854299OMIM096711782191290
HP:0001336HP:0045084Limb myoclonus1TH CL E G H7054605407Segawa syndrome, autosomal recessive605407C1854299OMIM096711782191290
HP:0001336HP:0012462Chin myoclonus1THAP1 CL E G H55145602629Dystonia 6, torsion602629C1414216OMIM020620856609520
HP:0001336HP:0025097Eyelid myoclonus1THAP1 CL E G H55145602629Dystonia 6, torsion602629C1414216OMIM020620856609520
HP:0001336HP:0010531Spinal myoclonus1THAP1 CL E G H55145602629Dystonia 6, torsion602629C1414216OMIM020620856609520
HP:0001336HP:0025357Erratic myoclonus1THAP1 CL E G H55145602629Dystonia 6, torsion602629C1414216OMIM020620856609520
HP:0001336HP:0003739Myoclonic spasms1THAP1 CL E G H55145602629Dystonia 6, torsion602629C1414216OMIM020620856609520
HP:0001336HP:0012323Sleep myoclonus1THAP1 CL E G H55145602629Dystonia 6, torsion602629C1414216OMIM020620856609520
HP:0001336HP:0007000Morning myoclonic jerks1THAP1 CL E G H55145602629Dystonia 6, torsion602629C1414216OMIM020620856609520
HP:0001336HP:0031986Polyminimyoclonus1THAP1 CL E G H55145602629Dystonia 6, torsion602629C1414216OMIM020620856609520
HP:0001336HP:0040148Cortical myoclonus1THAP1 CL E G H55145602629Dystonia 6, torsion602629C1414216OMIM020620856609520
HP:0001336HP:0045084Limb myoclonus1THAP1 CL E G H55145602629Dystonia 6, torsion602629C1414216OMIM020620856609520
HP:0001336HP:0010530Palatal myoclonus1THAP1 CL E G H55145602629Dystonia 6, torsion602629C1414216OMIM020620856609520
HP:0001336HP:0010530Palatal myoclonus1TRAK1 CL E G H22906442835ORPHA020829947608112
HP:0001336HP:0040148Cortical myoclonus1TRAK1 CL E G H22906442835ORPHA020829947608112
HP:0001336HP:0045084Limb myoclonus1TRAK1 CL E G H22906442835ORPHA020829947608112
HP:0001336HP:0010531Spinal myoclonus1TRAK1 CL E G H22906442835ORPHA020829947608112
HP:0001336HP:0012462Chin myoclonus1TRAK1 CL E G H22906442835ORPHA020829947608112
HP:0001336HP:0025097Eyelid myoclonus1TRAK1 CL E G H22906442835ORPHA020829947608112
HP:0001336HP:0003739Myoclonic spasms1TRAK1 CL E G H22906442835ORPHA020829947608112
HP:0001336HP:0012323Sleep myoclonus1TRAK1 CL E G H22906442835ORPHA020829947608112
HP:0001336HP:0025357Erratic myoclonus1TRAK1 CL E G H22906442835ORPHA020829947608112
HP:0001336HP:0031986Polyminimyoclonus1TRAK1 CL E G H22906442835ORPHA020829947608112
HP:0001336HP:0007000Morning myoclonic jerks1TRAK1 CL E G H22906442835ORPHA020829947608112
HP:0001336HP:0025357Erratic myoclonus1UBA5 CL E G H79876442835ORPHA022323230610552
HP:0001336HP:0003739Myoclonic spasms1UBA5 CL E G H79876442835ORPHA022323230610552
HP:0001336HP:0012323Sleep myoclonus1UBA5 CL E G H79876442835ORPHA022323230610552
HP:0001336HP:0007000Morning myoclonic jerks1UBA5 CL E G H79876442835ORPHA022323230610552
HP:0001336HP:0031986Polyminimyoclonus1UBA5 CL E G H79876442835ORPHA022323230610552
HP:0001336HP:0040148Cortical myoclonus1UBA5 CL E G H79876442835ORPHA022323230610552
HP:0001336HP:0045084Limb myoclonus1UBA5 CL E G H79876442835ORPHA022323230610552
HP:0001336HP:0010530Palatal myoclonus1UBA5 CL E G H79876442835ORPHA022323230610552
HP:0001336HP:0010531Spinal myoclonus1UBA5 CL E G H79876442835ORPHA022323230610552
HP:0001336HP:0012462Chin myoclonus1UBA5 CL E G H79876442835ORPHA022323230610552
HP:0001336HP:0025097Eyelid myoclonus1UBA5 CL E G H79876442835ORPHA022323230610552
HP:0001336HP:0040148Cortical myoclonus1WWOX CL E G H51741442835ORPHA0110212799605131
HP:0001336HP:0045084Limb myoclonus1WWOX CL E G H51741442835ORPHA0110212799605131
HP:0001336HP:0010530Palatal myoclonus1WWOX CL E G H51741442835ORPHA0110212799605131
HP:0001336HP:0012462Chin myoclonus1WWOX CL E G H51741442835ORPHA0110212799605131
HP:0001336HP:0025097Eyelid myoclonus1WWOX CL E G H51741442835ORPHA0110212799605131
HP:0001336HP:0010531Spinal myoclonus1WWOX CL E G H51741442835ORPHA0110212799605131
HP:0001336HP:0025357Erratic myoclonus1WWOX CL E G H51741442835ORPHA0110212799605131
HP:0001336HP:0003739Myoclonic spasms1WWOX CL E G H51741442835ORPHA0110212799605131
HP:0001336HP:0012323Sleep myoclonus1WWOX CL E G H51741442835ORPHA0110212799605131
HP:0001336HP:0007000Morning myoclonic jerks1WWOX CL E G H51741442835ORPHA0110212799605131
HP:0001336HP:0031986Polyminimyoclonus1WWOX CL E G H51741442835ORPHA0110212799605131
HP:0001336HP:0025357Erratic myoclonus1YWHAG CL E G H7532442835ORPHA018912852605356
HP:0001336HP:0003739Myoclonic spasms1YWHAG CL E G H7532442835ORPHA018912852605356
HP:0001336HP:0012323Sleep myoclonus1YWHAG CL E G H7532442835ORPHA018912852605356
HP:0001336HP:0007000Morning myoclonic jerks1YWHAG CL E G H7532442835ORPHA018912852605356
HP:0001336HP:0031986Polyminimyoclonus1YWHAG CL E G H7532442835ORPHA018912852605356
HP:0001336HP:0045084Limb myoclonus1YWHAG CL E G H7532442835ORPHA018912852605356
HP:0001336HP:0010530Palatal myoclonus1YWHAG CL E G H7532442835ORPHA018912852605356
HP:0001336HP:0040148Cortical myoclonus1YWHAG CL E G H7532442835ORPHA018912852605356
HP:0001336HP:0025097Eyelid myoclonus1YWHAG CL E G H7532442835ORPHA018912852605356
HP:0001336HP:0010531Spinal myoclonus1YWHAG CL E G H7532442835ORPHA018912852605356
HP:0001336HP:0012462Chin myoclonus1YWHAG CL E G H7532442835ORPHA018912852605356
HP:0001336HP:0010828Hemifacial spasm2AARS CL E G H16442835ORPHA020601065
HP:0001336HP:0033054Myoclonic tremor2AARS CL E G H16442835ORPHA020601065
HP:0001336HP:0010828Hemifacial spasm2ADAR CL E G H103225154ORPHA01122225146920
HP:0001336HP:0033054Myoclonic tremor2ADAR CL E G H103225154ORPHA01122225146920
HP:0001336HP:0010828Hemifacial spasm2ANO3 CL E G H63982420485ORPHA047714004610110
HP:0001336HP:0033054Myoclonic tremor2ANO3 CL E G H63982420485ORPHA047714004610110
HP:0001336HP:0033054Myoclonic tremor2AP3B2 CL E G H8120442835ORPHA0690567602166
HP:0001336HP:0010828Hemifacial spasm2AP3B2 CL E G H8120442835ORPHA0690567602166
HP:0001336HP:0010828Hemifacial spasm2ARV1 CL E G H64801442835ORPHA08929561611647
HP:0001336HP:0033054Myoclonic tremor2ARV1 CL E G H64801442835ORPHA08929561611647
HP:0001336HP:0010828Hemifacial spasm2ATN1 CL E G H1822125370Dentatorubral pallidoluysian atrophy125370C0751781OMIM02133033607462
HP:0001336HP:0033054Myoclonic tremor2ATN1 CL E G H1822125370Dentatorubral pallidoluysian atrophy125370C0751781OMIM02133033607462
HP:0001336HP:0033054Myoclonic tremor2ATP6V1A CL E G H523442835ORPHA0229851607027
HP:0001336HP:0010828Hemifacial spasm2ATP6V1A CL E G H523442835ORPHA0229851607027
HP:0001336HP:0033054Myoclonic tremor2BOLA3 CL E G H388962614299Multiple mitochondrial dysfunctions syndrome 2614299C3280378OMIM010224415613183
HP:0001336HP:0010828Hemifacial spasm2BOLA3 CL E G H388962614299Multiple mitochondrial dysfunctions syndrome 2614299C3280378OMIM010224415613183
HP:0001336HP:0033054Myoclonic tremor2C9orf72 CL E G H203228401901ORPHA017728337614260
HP:0001336HP:0010828Hemifacial spasm2C9orf72 CL E G H203228401901ORPHA017728337614260
HP:0001336HP:0010828Hemifacial spasm2CACNA1A CL E G H773442835ORPHA032481388601011
HP:0001336HP:0033054Myoclonic tremor2CACNA1A CL E G H773442835ORPHA032481388601011
HP:0001336HP:0033054Myoclonic tremor2CHD2 CL E G H11061942ORPHA018381917602119
HP:0001336HP:0010828Hemifacial spasm2CHD2 CL E G H11061942ORPHA018381917602119
HP:0001336HP:0033054Myoclonic tremor2CLTC CL E G H1213442835ORPHA06452092118955
HP:0001336HP:0010828Hemifacial spasm2CLTC CL E G H1213442835ORPHA06452092118955
HP:0001336HP:0010828Hemifacial spasm2CNKSR2 CL E G H22866442835ORPHA030619701300724
HP:0001336HP:0033054Myoclonic tremor2CNKSR2 CL E G H22866442835ORPHA030619701300724
HP:0001336HP:0033054Myoclonic tremor2COQ8A CL E G H56997139485ORPHA069916812606980
HP:0001336HP:0010828Hemifacial spasm2COQ8A CL E G H56997139485ORPHA069916812606980
HP:0001336HP:0010828Hemifacial spasm2COQ8A CL E G H56997612016Coenzyme Q10 deficiency, primary, 4612016C2677589OMIM069916812606980
HP:0001336HP:0033054Myoclonic tremor2COQ8A CL E G H56997612016Coenzyme Q10 deficiency, primary, 4612016C2677589OMIM069916812606980
HP:0001336HP:0033054Myoclonic tremor2CYFIP2 CL E G H26999442835ORPHA066813760606323
HP:0001336HP:0010828Hemifacial spasm2CYFIP2 CL E G H26999442835ORPHA066813760606323
HP:0001336HP:0010828Hemifacial spasm2DHDDS CL E G H79947442835ORPHA043420603608172
HP:0001336HP:0033054Myoclonic tremor2DHDDS CL E G H79947442835ORPHA043420603608172
HP:0001336HP:0033054Myoclonic tremor2DNAJC6 CL E G H9829391411ORPHA031015469608375
HP:0001336HP:0010828Hemifacial spasm2DNAJC6 CL E G H9829391411ORPHA031015469608375
HP:0001336HP:0033054Myoclonic tremor2DNM1 CL E G H1759442835ORPHA07652972602377
HP:0001336HP:0010828Hemifacial spasm2DNM1 CL E G H1759442835ORPHA07652972602377
HP:0001336HP:0010828Hemifacial spasm2EEF1A2 CL E G H1917442835ORPHA05753192602959
HP:0001336HP:0033054Myoclonic tremor2EEF1A2 CL E G H1917442835ORPHA05753192602959
HP:0001336HP:0010828Hemifacial spasm2EFHC1 CL E G H1143271941ORPHA045416406608815
HP:0001336HP:0033054Myoclonic tremor2EFHC1 CL E G H1143271941ORPHA045416406608815
HP:0001336HP:0033054Myoclonic tremor2FGF12 CL E G H2257442835ORPHA02593668601513
HP:0001336HP:0010828Hemifacial spasm2FGF12 CL E G H2257442835ORPHA02593668601513
HP:0001336HP:0010828Hemifacial spasm2GABRB2 CL E G H2561442835ORPHA04944082600232
HP:0001336HP:0033054Myoclonic tremor2GABRB2 CL E G H2561442835ORPHA04944082600232
HP:0001336HP:0010828Hemifacial spasm2GLRX5 CL E G H51218401866ORPHA011120134609588
HP:0001336HP:0033054Myoclonic tremor2GLRX5 CL E G H51218401866ORPHA011120134609588
HP:0001336HP:0010828Hemifacial spasm2GRIA3 CL E G H2892300699Mental retardation, X-linked, syndromic, wu type300699C2678051OMIM05604573305915
HP:0001336HP:0033054Myoclonic tremor2GRIA3 CL E G H2892300699Mental retardation, X-linked, syndromic, wu type300699C2678051OMIM05604573305915
HP:0001336HP:0033054Myoclonic tremor2GRIK2 CL E G H2898611092Mental retardation, autosomal recessive 6611092C1970198OMIM01894580138244
HP:0001336HP:0010828Hemifacial spasm2GRIK2 CL E G H2898611092Mental retardation, autosomal recessive 6611092C1970198OMIM01894580138244
HP:0001336HP:0033054Myoclonic tremor2GRIN2D CL E G H2906442835ORPHA08234588602717
HP:0001336HP:0010828Hemifacial spasm2GRIN2D CL E G H2906442835ORPHA08234588602717
HP:0001336HP:0010828Hemifacial spasm2HCN1 CL E G H348980442835ORPHA07964845602780
HP:0001336HP:0033054Myoclonic tremor2HCN1 CL E G H348980442835ORPHA07964845602780
HP:0001336HP:0033054Myoclonic tremor2HTT CL E G H3064248111ORPHA07604851613004
HP:0001336HP:0010828Hemifacial spasm2HTT CL E G H3064248111ORPHA07604851613004
HP:0001336HP:0033054Myoclonic tremor2KCNA2 CL E G H3737442835ORPHA04016220176262
HP:0001336HP:0010828Hemifacial spasm2KCNA2 CL E G H3737442835ORPHA04016220176262
HP:0001336HP:0010828Hemifacial spasm2KCNB1 CL E G H3745442835ORPHA06356231600397
HP:0001336HP:0033054Myoclonic tremor2KCNB1 CL E G H3745442835ORPHA06356231600397
HP:0001336HP:0010828Hemifacial spasm2KCNC3 CL E G H374898768ORPHA03116235176264
HP:0001336HP:0033054Myoclonic tremor2KCNC3 CL E G H374898768ORPHA03116235176264
HP:0001336HP:0010828Hemifacial spasm2KMT2B CL E G H9757617284Dystonia 28, childhood-onset617284C4310633OMIM0130315840606834
HP:0001336HP:0033054Myoclonic tremor2KMT2B CL E G H9757617284Dystonia 28, childhood-onset617284C4310633OMIM0130315840606834
HP:0001336HP:0010828Hemifacial spasm2MRE11 CL E G H4361251347ORPHA019117230600814
HP:0001336HP:0033054Myoclonic tremor2MRE11 CL E G H4361251347ORPHA019117230600814
HP:0001336HP:0033054Myoclonic tremor2MT-ATP6 CL E G H4508225154ORPHA07414516060
HP:0001336HP:0010828Hemifacial spasm2MT-ATP6 CL E G H4508225154ORPHA07414516060
HP:0001336HP:0033054Myoclonic tremor2NECAP1 CL E G H25977442835ORPHA022124539611623
HP:0001336HP:0010828Hemifacial spasm2NECAP1 CL E G H25977442835ORPHA022124539611623
HP:0001336HP:0010828Hemifacial spasm2NTRK2 CL E G H4915442835ORPHA05098032600456
HP:0001336HP:0033054Myoclonic tremor2NTRK2 CL E G H4915442835ORPHA05098032600456
HP:0001336HP:0010828Hemifacial spasm2NUP62 CL E G H23636225154ORPHA01618066605815
HP:0001336HP:0033054Myoclonic tremor2NUP62 CL E G H23636225154ORPHA01618066605815
HP:0001336HP:0033054Myoclonic tremor2NUS1 CL E G H116150442835ORPHA032621042610463
HP:0001336HP:0010828Hemifacial spasm2NUS1 CL E G H116150442835ORPHA032621042610463
HP:0001336HP:0033054Myoclonic tremor2PLA2G6 CL E G H8398199351ORPHA07759039603604
HP:0001336HP:0010828Hemifacial spasm2PLA2G6 CL E G H8398199351ORPHA07759039603604
HP:0001336HP:0010828Hemifacial spasm2PODXL CL E G H5420391411ORPHA02009171602632
HP:0001336HP:0033054Myoclonic tremor2PODXL CL E G H5420391411ORPHA02009171602632
HP:0001336HP:0010828Hemifacial spasm2PPP3CA CL E G H5530442835ORPHA03519314114105
HP:0001336HP:0033054Myoclonic tremor2PPP3CA CL E G H5530442835ORPHA03519314114105
HP:0001336HP:0033054Myoclonic tremor2PRKCG CL E G H558298763ORPHA03239402176980
HP:0001336HP:0010828Hemifacial spasm2PRKCG CL E G H558298763ORPHA03239402176980
HP:0001336HP:0033054Myoclonic tremor2PTS CL E G H580513Brain malformationC0266449ORPHA02639689612719
HP:0001336HP:0010828Hemifacial spasm2PTS CL E G H580513Brain malformationC0266449ORPHA02639689612719
HP:0001336HP:0010828Hemifacial spasm2RMND1 CL E G H55005614922Combined oxidative phosphorylation deficiency 11614922C3554067OMIM026221176614917
HP:0001336HP:0033054Myoclonic tremor2RMND1 CL E G H55005614922Combined oxidative phosphorylation deficiency 11614922C3554067OMIM026221176614917
HP:0001336HP:0033054Myoclonic tremor2SCN3A CL E G H6328442835ORPHA0142010590182391
HP:0001336HP:0010828Hemifacial spasm2SCN3A CL E G H6328442835ORPHA0142010590182391
HP:0001336HP:0010828Hemifacial spasm2SCN8A CL E G H6334442835ORPHA0179910596600702
HP:0001336HP:0033054Myoclonic tremor2SCN8A CL E G H6334442835ORPHA0179910596600702
HP:0001336HP:0033054Myoclonic tremor2SLC13A5 CL E G H284111442835ORPHA068523089608305
HP:0001336HP:0010828Hemifacial spasm2SLC13A5 CL E G H284111442835ORPHA068523089608305
HP:0001336HP:0010828Hemifacial spasm2SLC1A2 CL E G H6506442835ORPHA035910940600300
HP:0001336HP:0033054Myoclonic tremor2SLC1A2 CL E G H6506442835ORPHA035910940600300
HP:0001336HP:0033054Myoclonic tremor2SLC2A1 CL E G H651371277ORPHA096511005138140
HP:0001336HP:0010828Hemifacial spasm2SLC2A1 CL E G H651371277ORPHA096511005138140
HP:0001336HP:0010828Hemifacial spasm2SLC6A1 CL E G H65291942ORPHA080911042137165
HP:0001336HP:0033054Myoclonic tremor2SLC6A1 CL E G H65291942ORPHA080911042137165
HP:0001336HP:0010828Hemifacial spasm2STXBP1 CL E G H6812442835ORPHA0101711444602926
HP:0001336HP:0033054Myoclonic tremor2STXBP1 CL E G H6812442835ORPHA0101711444602926
HP:0001336HP:0033054Myoclonic tremor2SYNGAP1 CL E G H8831442835ORPHA0133511497603384
HP:0001336HP:0010828Hemifacial spasm2SYNGAP1 CL E G H8831442835ORPHA0133511497603384
HP:0001336HP:0010828Hemifacial spasm2SYNJ1 CL E G H8867442835ORPHA0131511503604297
HP:0001336HP:0033054Myoclonic tremor2SYNJ1 CL E G H8867391411ORPHA0131511503604297
HP:0001336HP:0033054Myoclonic tremor2SYNJ1 CL E G H8867442835ORPHA0131511503604297
HP:0001336HP:0010828Hemifacial spasm2SYNJ1 CL E G H8867391411ORPHA0131511503604297
HP:0001336HP:0033054Myoclonic tremor2SZT2 CL E G H23334442835ORPHA0286229040615463
HP:0001336HP:0010828Hemifacial spasm2SZT2 CL E G H23334442835ORPHA0286229040615463
HP:0001336HP:0010828Hemifacial spasm2TBC1D24 CL E G H5746579500ORPHA089329203613577
HP:0001336HP:0033054Myoclonic tremor2TBC1D24 CL E G H5746579500ORPHA089329203613577
HP:0001336HP:0010828Hemifacial spasm2TH CL E G H7054605407Segawa syndrome, autosomal recessive605407C1854299OMIM096711782191290
HP:0001336HP:0033054Myoclonic tremor2TH CL E G H7054605407Segawa syndrome, autosomal recessive605407C1854299OMIM096711782191290
HP:0001336HP:0010828Hemifacial spasm2THAP1 CL E G H55145602629Dystonia 6, torsion602629C1414216OMIM020620856609520
HP:0001336HP:0033054Myoclonic tremor2THAP1 CL E G H55145602629Dystonia 6, torsion602629C1414216OMIM020620856609520
HP:0001336HP:0010828Hemifacial spasm2TRAK1 CL E G H22906442835ORPHA020829947608112
HP:0001336HP:0033054Myoclonic tremor2TRAK1 CL E G H22906442835ORPHA020829947608112
HP:0001336HP:0033054Myoclonic tremor2UBA5 CL E G H79876442835ORPHA022323230610552
HP:0001336HP:0010828Hemifacial spasm2UBA5 CL E G H79876442835ORPHA022323230610552
HP:0001336HP:0010828Hemifacial spasm2WWOX CL E G H51741442835ORPHA0110212799605131
HP:0001336HP:0033054Myoclonic tremor2WWOX CL E G H51741442835ORPHA0110212799605131
HP:0001336HP:0033054Myoclonic tremor2YWHAG CL E G H7532442835ORPHA018912852605356
HP:0001336HP:0010828Hemifacial spasm2YWHAG CL E G H7532442835ORPHA018912852605356


Genes (226) :AARS ABCA7 ADAR ADCY5 ADRA2B ADSL AFG3L2 AMT ANO3 AP3B2 AP5Z1 APP ARV1 ARX ASAH1 ATAD1 ATM ATN1 ATP13A2 ATP6 ATP6V1A ATXN2 BOLA3 BRAT1 BSCL2 C9ORF72 CACNA1A CACNA1B CACNA1E CACNB4 CARS2 CASR CCDC88A CDKL5 CERS1 CHD2 CHMP2B CIZ1 CLCN2 CLN3 CLN5 CLN6 CLN8 CLTC CNKSR2 CNPY3 CNTN2 COQ8A CPLX1 CSTB CTNND2 CTSF CUX2 CYFIP2 CYP27A1 DAB1 DDC DENND5A DHDDS DHFR DNAJC5 DNAJC6 DNM1 DRD2 EEF1A2 EFHC1 EPM2A FARS2 FBXO7 FGF12 FOXRED1 FRRS1L GABRA1 GABRB2 GABRB3 GABRD GAMT GBA GCSH GLDC GLRA1 GLRB GLRX5 GLYCTK GNA11 GNAS GOSR2 GPHN GRIA3 GRIK2 GRIN1 GRIN2B GRIN2D GUF1 HCN1 HIBCH HMGCL HTT ICK INPP5E JRK KCNA2 KCNB1 KCNC1 KCNC3 KCND3 KCNQ2 KCNQ3 KCTD17 KCTD7 KIF1C KIF5A KMT2B LIAS LMNB2 MAPK10 MECP2 MECR MOCS1 MOCS2 MRE11 MT-TF MT-TI MT-TK MT-TL1 MT-TP MTPAP NAGA NDUFAF3 NDUFV1 NECAP1 NEU1 NGLY1 NHLRC1 NME1 NOL3 NOP56 NTRK2 NUP62 NUS1 PGM3 PHACTR1 PIGA PLA2G6 PLCB1 PLPBP PNPO PODXL POLG POMGNT1 PPP3CA PPT1 PRDM8 PRICKLE1 PRKCG PRNP PRRT2 PSAP PSEN1 PSEN2 PTS PURA QDPR RFT1 RMND1 SAMD12 SC5D SCARB2 SCN1A SCN2A SCN3A SCN8A SDHA SDHAF1 SDHD SERPINI1 SGCE SIK1 SLC13A5 SLC1A2 SLC25A22 SLC25A46 SLC2A1 SLC52A2 SLC52A3 SLC6A1 SLC6A5 SNCA SORL1 SPTAN1 ST3GAL3 ST3GAL5 STAMBP STX16 STXBP1 SYNGAP1 SYNJ1 SZT2 TAF1 TBC1D24 TBP TH THAP1 TMEM231 TOE1 TOMM40 TOR1A TPP1 TRAK1 TRAPPC12 TREM2 TRNF TRNI TRNK TRNL1 TRNP TSEN54 TSPYL1 TWNK TXN2 TYROBP UBA5 VPS13D WWOX YWHAG ZNHIT3

Diseases (176) :442835 1020 225154 324588 86814 607876 103050 313772 614487 605899 420485 306511 324708 3451 159950 618011 3197 208900 101 125370 314632 306674 606693 183090 614299 363400 615924 401901 614860 618285 616672 617507 300672 616230 2382 1942 600795 420492 204200 256731 204300 600143 139485 612016 352582 254800 615362 909 363710 608643 617281 162350 391411 1941 254780 614946 171695 618241 616981 617829 612736 231000 149400 614619 401866 220120 614018 300699 611092 614254 617065 250620 246450 248111 616366 616187 98768 607346 306 616398 617235 617284 614462 616540 300673 617282 251347 254343 79279 609241 618240 618225 812 256550 615273 256700 614937 199351 617290 79096 610090 70595 726 203700 607459 253280 256730 324290 616640 98763 282166 600072 137440 123400 139406 611721 610539 607822 13 616158 261630 612015 614922 46059 254900 252011 604218 159900 1935 616505 71277 606777 97229 168601 609056 614261 53351 314250 352596 79500 615338 607136 101150 605407 602629 2752 614969 204500 618201 617669 545000 225753 168593 221770 607317 260565 644 614498 307 428 308 613839 36899 94089 79444 79443 263516 397946 252150 252160 276198 615816 616421 370938 478029 213300
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is August 2021 release.