Human Phenotype Ontology 
Grandparent Node:
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Abnormal nervous system physiology (HP:0012638)help
Parent Node:
expand
Abnormality of movement (HP:0100022)help
..Starting node
..expand
Dystonia (HP:0001332)help
Term ID: 1332
Name: Dystonia
Synonym: Dystonic disease; Dystonic movements
Definition: An abnormally increased muscular tone that causes fixed abnormal postures. There is a slow, intermittent twisting motion that leads to exaggerated turning and posture of the extremities and trunk.
Comments:
Reference: HP:0001332
Genes and Diseases:
 
       Child Nodes:
........expandTorsion dystonia (HP:0001304) help
........expandParoxysmal dystonia (HP:0002268) help
........expandLimb dystonia (HP:0002451) help
........expandAxial dystonia (HP:0002530) help
........expandFocal dystonia (HP:0004373) help
................... HP:0002356 Writer's cramp
................... HP:0012049 Laryngeal dystonia
................... HP:0012179 Craniofacial dystonia
........expandGeneralized dystonia (HP:0007325) help
........expandOculogyric crisis (HP:0010553) help

 Sister Nodes: 
..expandAbnormal head movements (HP:0002457) help
..expandAbnormal posturing (HP:0002533) help
..expandAbnormal reflex (HP:0031826) help
..expandAstasia (HP:0020037) help
..expandAsterixis (HP:0012164) help
..expandBimanual synkinesia (HP:0001335) help
..expandCerebral palsy (HP:0100021) help
..expandDiminished movement (HP:0002374) help
..expandDyskinesia (HP:0100660) help
..expandFrontal release signs (HP:0000743) help
..expandGait disturbance (HP:0001288) help
..expandHyperactivity (HP:0000752) help
..expandHyperkinetic movements (HP:0002487) help
..expandInvoluntary movements (HP:0004305) help
..expandMuscle fibrillation (HP:0010546) help
..expandMyokymia (HP:0002411) help
..expandPostural instability (HP:0002172) help
..expandPrimitive reflex (HP:0002476) help
..expandStooped posture (HP:0025403) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0001332HP:0001332Dystonia0AARS2 CL E G H57505615889Leukoencephalopathy, progressive, with ovarian failure615889C4014588OMIM154321022612035
HP:0001332HP:0001332Dystonia0ACER3 CL E G H55331617762LEUKODYSTROPHY, PROGRESSIVE, EARLY CHILDHOOD-ONSET617762C4540358OMIM17316066617036
HP:0001332HP:0001332Dystonia0ACOX1 CL E G H51264470Pseudoneonatal adrenoleukodystrophy264470C1849678OMIM1665119609751
HP:0001332HP:0001332Dystonia0ADAR CL E G H10351ORPHA11122225146920
HP:0001332HP:0001332Dystonia0ADAR CL E G H103225154ORPHA11122225146920
HP:0001332HP:0001332Dystonia0ADAR CL E G H103615010Aicardi-Goutieres syndrome 6615010C3539013OMIM11122225146920
HP:0001332HP:0001332Dystonia0ADCY5 CL E G H111324588ORPHA1653236600293
HP:0001332HP:0001332Dystonia0ADCY5 CL E G H111606703Dyskinesia, familial, with facial myokymia606703C1847627OMIM1653236600293
HP:0001332HP:0001332Dystonia0AFG3L2 CL E G H10939313772ORPHA1480315604581
HP:0001332HP:0001332Dystonia0AFG3L2 CL E G H10939614487Spastic ataxia 5, autosomal recessive614487C3280977OMIM1480315604581
HP:0001332HP:0001332Dystonia0ALDH6A1 CL E G H4329614105Methylmalonate semialdehyde dehydrogenase deficiency614105C3279840OMIM12097179603178
HP:0001332HP:0001332Dystonia0AP3D1 CL E G H8943617050Hermansky-Pudlak syndrome 10617050C4310746OMIM1893568607246
HP:0001332HP:0001332Dystonia0AP4B1 CL E G H10717280763ORPHA1403572607245
HP:0001332HP:0001332Dystonia0AP4B1 CL E G H10717614066Spastic paraplegia 47, autosomal recessive614066C3279738OMIM1403572607245
HP:0001332HP:0001332Dystonia0AP4E1 CL E G H23431280763ORPHA1509573607244
HP:0001332HP:0001332Dystonia0AP4M1 CL E G H9179280763ORPHA1429574602296
HP:0001332HP:0001332Dystonia0AP4S1 CL E G H11154280763ORPHA1148575607243
HP:0001332HP:0001332Dystonia0APTX CL E G H54840208920Ataxia-oculomotor apraxia type 1208920C1859598OMIM133115984606350
HP:0001332HP:0001332Dystonia0ARSA CL E G H410309256ORPHA11140713607574
HP:0001332HP:0001332Dystonia0ARSA CL E G H410309263ORPHA11140713607574
HP:0001332HP:0001332Dystonia0ARSA CL E G H410309271ORPHA11140713607574
HP:0001332HP:0001332Dystonia0ARSA CL E G H410250100Metachromatic leukodystrophy250100C0023522OMIM11140713607574
HP:0001332HP:0001332Dystonia0ARV1 CL E G H64801617020Epileptic encephalopathy, early infantile, 38617020C4310762OMIM18929561611647
HP:0001332HP:0001332Dystonia0ARX CL E G H170302308350Epileptic encephalopathy, early infantile, 1308350C3463992OMIM181018060300382
HP:0001332HP:0001332Dystonia0ATM CL E G H472208900Ataxia-telangiectasia syndrome208900C0004135OMIM114692795607585
HP:0001332HP:0001332Dystonia0ATP13A2 CL E G H23400314632ORPHA197430213610513
HP:0001332HP:0001332Dystonia0ATP13A2 CL E G H23400513436ORPHA197430213610513
HP:0001332HP:0001332Dystonia0ATP1A2 CL E G H477104290Alternating hemiplegia of childhood 1104290C3549447OMIM11117800182340
HP:0001332HP:0001332Dystonia0ATP1A3 CL E G H478614820Alternating hemiplegia of childhood 2614820C3553788OMIM1993801182350
HP:0001332HP:0001332Dystonia0ATP1A3 CL E G H478601338Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss601338C1832466OMIM1993801182350
HP:0001332HP:0001332Dystonia0ATP7B CL E G H540277900Wilson disease277900C0019202OMIM12303870606882
HP:0001332HP:0001332Dystonia0ATXN1 CL E G H631098755ORPHA112010548601556
HP:0001332HP:0001332Dystonia0ATXN2 CL E G H631198756ORPHA111510555601517
HP:0001332HP:0001332Dystonia0ATXN3 CL E G H4287276238ORPHA1657106607047
HP:0001332HP:0001332Dystonia0ATXN3 CL E G H4287276241ORPHA1657106607047
HP:0001332HP:0001332Dystonia0ATXN3 CL E G H4287276244ORPHA1657106607047
HP:0001332HP:0001332Dystonia0ATXN8 CL E G H72406698760ORPHA1232925613289
HP:0001332HP:0001332Dystonia0ATXN8OS CL E G H631598760ORPHA18710561603680
HP:0001332HP:0001332Dystonia0AUH CL E G H5492509503-Methylglutaconic aciduria type 1250950C0342727OMIM1249890600529
HP:0001332HP:0001332Dystonia0B4GALNT1 CL E G H2583609195Spastic paraplegia 26609195C1836632OMIM12954117601873
HP:0001332HP:0001332Dystonia0BCAP31 CL E G H10134300475Chromosome Xq28 deletion syndrome300475C1845408OMIM137516695300398
HP:0001332HP:0001332Dystonia0BCS1L CL E G H617256000Leigh syndrome256000C0023264OMIM14131020603647
HP:0001332HP:0001332Dystonia0BSCL2 CL E G H26580615924Encephalopathy, progressive, with or without lipodystrophy615924C4014700OMIM151015832606158
HP:0001332HP:0001332Dystonia0C19orf12 CL E G H83636289560ORPHA130725443614297
HP:0001332HP:0001332Dystonia0CACNA1A CL E G H773108500Episodic ataxia type 2108500C1720416OMIM132481388601011
HP:0001332HP:0001332Dystonia0CACNA1E CL E G H777618285618285618285OMIM115831392601013
HP:0001332HP:0001332Dystonia0CACNA1G CL E G H8913618087SPINOCEREBELLAR ATAXIA 42, EARLY-ONSET, SEVERE, WITH NEURODEVELOPMENTAL DEFICITS618087CN252698OMIM18221394604065
HP:0001332HP:0001332Dystonia0CARS2 CL E G H79587616672Combined oxidative phosphorylation deficiency 27616672C4225251OMIM182525695612800
HP:0001332HP:0001332Dystonia0CHMP2B CL E G H25978600795Frontotemporal Dementia, Chromosome 3-Linked600795C1833296OMIM116024537609512
HP:0001332HP:0001332Dystonia0CHRNA2 CL E G H1135610353Epilepsy, nocturnal frontal lobe, type 4610353C1835905OMIM17321956118502
HP:0001332HP:0001332Dystonia0CKAP2L CL E G H150468272440Filippi syndrome272440C0795940OMIM116826877616174
HP:0001332HP:0001332Dystonia0CNTNAP1 CL E G H8506618186Congenital hypomyelinating neuropathy 3618186OMIM14258011602346
HP:0001332HP:0001332Dystonia0COQ9 CL E G H57017614654Coenzyme Q10 deficiency, primary, 5614654C3553374OMIM127625302612837
HP:0001332HP:0001332Dystonia0COX10 CL E G H1352256000Leigh syndrome256000C0023264OMIM13562260602125
HP:0001332HP:0001332Dystonia0COX15 CL E G H1355255241ORPHA13572263603646
HP:0001332HP:0001332Dystonia0COX15 CL E G H1355256000Leigh syndrome256000C0023264OMIM13572263603646
HP:0001332HP:0001332Dystonia0CTC1 CL E G H80169612199Cerebroretinal microangiopathy with calcifications and cysts 1612199C2677299OMIM1129226169613129
HP:0001332HP:0001332Dystonia0CWF19L1 CL E G H55280453521ORPHA110025613616120
HP:0001332HP:0001332Dystonia0CYP27A1 CL E G H1593909ORPHA19402605606530
HP:0001332HP:0001332Dystonia0DCAF17 CL E G H800673464ORPHA136625784612515
HP:0001332HP:0001332Dystonia0DCAF17 CL E G H80067241080Hypogonadism, diabetes mellitus, alopecia, mental retardation and electrocardiographic abnormalities241080C0342286OMIM136625784612515
HP:0001332HP:0001332Dystonia0DHDDS CL E G H79947617836DEVELOPMENTAL DELAY AND SEIZURES WITH OR WITHOUT MOVEMENT ABNORMALITIES617836CN769090OMIM143420603608172
HP:0001332HP:0001332Dystonia0DHX30 CL E G H22907617804NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT AND ABSENT LANGUAGE617804C4540496OMIM116216716616423
HP:0001332HP:0001332Dystonia0DLD CL E G H1738246900Maple syrup urine disease, type 3246900CN043137OMIM15202898238331
HP:0001332HP:0001332Dystonia0DMXL2 CL E G H23312616113Polyendocrine-polyneuropathy syndrome616113C4015261OMIM112162938612186
HP:0001332HP:0001332Dystonia0DNAJC6 CL E G H9829391411ORPHA131015469608375
HP:0001332HP:0001332Dystonia0EARS2 CL E G H124454614924Combined oxidative phosphorylation deficiency 12614924C3554079OMIM133629419612799
HP:0001332HP:0001332Dystonia0ECHS1 CL E G H1892255241ORPHA14313151602292
HP:0001332HP:0001332Dystonia0ECHS1 CL E G H1892616277Mitochondrial short-chain enoyl-coa hydratase 1 deficiency616277C4225391OMIM14313151602292
HP:0001332HP:0001332Dystonia0ECM1 CL E G H1893530Acute myeloblastic leukemia type 5ORPHA11063153602201
HP:0001332HP:0001332Dystonia0EPRS CL E G H2058617951LEUKODYSTROPHY, HYPOMYELINATING, 15617951CN244566OMIM13418138295
HP:0001332HP:0001332Dystonia0FA2H CL E G H79152612319Spastic paraplegia 35612319C3668943OMIM138121197611026
HP:0001332HP:0001332Dystonia0FBXO7 CL E G H25793171695ORPHA124313586605648
HP:0001332HP:0001332Dystonia0FBXO7 CL E G H25793260300Parkinson disease 15260300C1850100OMIM124313586605648
HP:0001332HP:0001332Dystonia0FOXG1 CL E G H2290613454Rett syndrome, congenital variant613454C3150705OMIM17253811164874
HP:0001332HP:0001332Dystonia0FOXRED1 CL E G H55572255241ORPHA132326927613622
HP:0001332HP:0001332Dystonia0FTL CL E G H2512157846ORPHA11853999134790
HP:0001332HP:0001332Dystonia0GABBR2 CL E G H9568617903NEURODEVELOPMENTAL DISORDER WITH POOR LANGUAGE AND LOSS OF HAND SKILLS617903CN870852OMIM18484507607340
HP:0001332HP:0001332Dystonia0GABRB2 CL E G H2561617829EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 2617829CN757794OMIM14944082600232
HP:0001332HP:0001332Dystonia0GBA CL E G H262977260ORPHA14177606463
HP:0001332HP:0001332Dystonia0GCDH CL E G H263925ORPHA17204189608801
HP:0001332HP:0001332Dystonia0GCDH CL E G H2639231670Glutaric aciduria, type 1231670C0268595OMIM17204189608801
HP:0001332HP:0001332Dystonia0GCH1 CL E G H2643233910GTP cyclohydrolase I deficiency233910C0268467OMIM14284193600225
HP:0001332HP:0001332Dystonia0GJC2 CL E G H57165608804Leukodystrophy, hypomyelinating, 2608804C1837355OMIM132317494608803
HP:0001332HP:0001332Dystonia0GLB1 CL E G H2720230650Gangliosidosis GM1 type 3230650C0268273OMIM19374298611458
HP:0001332HP:0001332Dystonia0GM2A CL E G H2760309246ORPHA12124367613109
HP:0001332HP:0001332Dystonia0GM2A CL E G H2760272750Tay-Sachs disease, variant AB272750C0268275OMIM12124367613109
HP:0001332HP:0001332Dystonia0GNAO1 CL E G H2775617493Neurodevelopmental disorder with involuntary movements617493C4479569OMIM14294389139311
HP:0001332HP:0001332Dystonia0GRIN1 CL E G H2902617820NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE617820CN737161OMIM19294584138249
HP:0001332HP:0001332Dystonia0GRIN2B CL E G H2904616139Epileptic encephalopathy, early infantile, 27616139C4015316OMIM113534586138252
HP:0001332HP:0001332Dystonia0GRIN2B CL E G H2904613970Mental retardation, autosomal dominant 6613970C3151411OMIM113534586138252
HP:0001332HP:0001332Dystonia0GTPBP2 CL E G H54676617988JABERI-ELAHI SYNDROME617988CN244943OMIM11474670607434
HP:0001332HP:0001332Dystonia0HACE1 CL E G H57531464282ORPHA122721033610876
HP:0001332HP:0001332Dystonia0HIBCH CL E G H26275250620Beta-hydroxyisobutyryl-CoA deacylase deficiency250620C0342738OMIM12354908610690
HP:0001332HP:0001332Dystonia0HPRT1 CL E G H3251300322Lesch-Nyhan syndrome300322C0023374OMIM13545157308000
HP:0001332HP:0001332Dystonia0HTRA2 CL E G H274296172483-methylglutaconic aciduria, type VIII617248C4310650OMIM124414348606441
HP:0001332HP:0001332Dystonia0HTT CL E G H3064248111ORPHA17604851613004
HP:0001332HP:0001332Dystonia0HTT CL E G H3064617435Lopes-Maciel-Rodan syndrome617435C4479491OMIM17604851613004
HP:0001332HP:0001332Dystonia0IFIH1 CL E G H6413551ORPHA1117018873606951
HP:0001332HP:0001332Dystonia0IFIH1 CL E G H64135615846Aicardi-Goutieres syndrome 7615846C3888244OMIM1117018873606951
HP:0001332HP:0001332Dystonia0IRF2BPL CL E G H64207618088NEURODEVELOPMENTAL DISORDER WITH REGRESSION, ABNORMAL MOVEMENTS, LOSS OF SPEECH, AND SEIZURES618088CN252701OMIM131214282611720
HP:0001332HP:0001332Dystonia0JPH3 CL E G H57338606438Huntington disease-like 2606438C1847987OMIM117614203605268
HP:0001332HP:0001332Dystonia0KCNQ2 CL E G H3785439218ORPHA119626296602235
HP:0001332HP:0001332Dystonia0KCNQ2 CL E G H3785613720Early infantile epileptic encephalopathy 7613720C3150986OMIM119626296602235
HP:0001332HP:0001332Dystonia0LIPT1 CL E G H51601255241ORPHA112429569610284
HP:0001332HP:0001332Dystonia0LIPT1 CL E G H51601616299Lipoyltransferase 1 deficiency616299C4225379OMIM112429569610284
HP:0001332HP:0001332Dystonia0LIPT2 CL E G H387787617668ENCEPHALOPATHY, NEONATAL SEVERE, WITH LACTIC ACIDOSIS AND BRAIN ABNORMALITIES617668C4540052OMIM111337216617659
HP:0001332HP:0001332Dystonia0MARS2 CL E G H92935314603ORPHA120425133609728
HP:0001332HP:0001332Dystonia0MARS2 CL E G H92935611390Ataxia, spastic, 3, autosomal recessive611390C1969645OMIM120425133609728
HP:0001332HP:0001332Dystonia0MAT1A CL E G H4143250850Hepatic methionine adenosyltransferase deficiency250850C0268621OMIM13536903610550
HP:0001332HP:0001332Dystonia0MCOLN1 CL E G H57192252650Mucolipidosis type IV252650C0238286OMIM166913356605248
HP:0001332HP:0001332Dystonia0MDH2 CL E G H4191617339Epileptic encephalopathy, early infantile, 51617339C4479208OMIM15936971154100
HP:0001332HP:0001332Dystonia0MECP2 CL E G H4204778ORPHA119256990300005
HP:0001332HP:0001332Dystonia0MECP2 CL E G H4204312750Rett syndrome312750C0035372OMIM119256990300005
HP:0001332HP:0001332Dystonia0MICU1 CL E G H10367401768ORPHA12651530605084
HP:0001332HP:0001332Dystonia0MMADHC CL E G H27249277410Methylmalonic acidemia with homocystinuria cblD277410C1848552OMIM128225221611935
HP:0001332HP:0001332Dystonia0MMUT CL E G H459479312ORPHA18967526609058
HP:0001332HP:0001332Dystonia0MPV17 CL E G H4358256810Navajo neurohepatopathy256810C1850406OMIM12647224137960
HP:0001332HP:0001332Dystonia0MRE11 CL E G H4361251347ORPHA119117230600814
HP:0001332HP:0001332Dystonia0MRE11 CL E G H4361604391Ataxia-telangiectasia-like disorder 1604391C1858391OMIM119117230600814
HP:0001332HP:0001332Dystonia0MRPS34 CL E G H65993617664COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 32617664C4540029OMIM113816618611994
HP:0001332HP:0001332Dystonia0MT-ATP6 CL E G H4508225154ORPHA17414516060
HP:0001332HP:0001332Dystonia0MT-ATP6 CL E G H4508535000Leber's optic atrophy535000C0917796OMIM17414516060
HP:0001332HP:0001332Dystonia0MT-CO3 CL E G H4514535000Leber's optic atrophy535000C0917796OMIM17422516050
HP:0001332HP:0001332Dystonia0MT-CYB CL E G H4519535000Leber's optic atrophy535000C0917796OMIM17427516020
HP:0001332HP:0001332Dystonia0MT-ND1 CL E G H4535535000Leber's optic atrophy535000C0917796OMIM17455516000
HP:0001332HP:0001332Dystonia0MT-ND2 CL E G H4536535000Leber's optic atrophy535000C0917796OMIM17456516001
HP:0001332HP:0001332Dystonia0MT-ND4 CL E G H4538535000Leber's optic atrophy535000C0917796OMIM17459516003
HP:0001332HP:0001332Dystonia0MT-ND4L CL E G H4539535000Leber's optic atrophy535000C0917796OMIM17460516004
HP:0001332HP:0001332Dystonia0MT-ND5 CL E G H4540535000Leber's optic atrophy535000C0917796OMIM17461516005
HP:0001332HP:0001332Dystonia0MT-ND6 CL E G H4541535000Leber's optic atrophy535000C0917796OMIM17462516006
HP:0001332HP:0001332Dystonia0MTFMT CL E G H123263255241ORPHA124329666611766
HP:0001332HP:0001332Dystonia0NADK2 CL E G H133686431361ORPHA122126404615787
HP:0001332HP:0001332Dystonia0NADK2 CL E G H1336866160342,4-Dienoyl-CoA reductase deficiency616034C1857252OMIM122126404615787
HP:0001332HP:0001332Dystonia0NDUFA10 CL E G H4705255241ORPHA14217684603835
HP:0001332HP:0001332Dystonia0NDUFA12 CL E G H55967255241ORPHA19223987614530
HP:0001332HP:0001332Dystonia0NDUFA12 CL E G H55967618244MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 23618244OMIM19223987614530
HP:0001332HP:0001332Dystonia0NDUFA13 CL E G H51079255241ORPHA16517194609435
HP:0001332HP:0001332Dystonia0NDUFA2 CL E G H4695255241ORPHA1957685602137
HP:0001332HP:0001332Dystonia0NDUFA4 CL E G H4697255241ORPHA1967687603833
HP:0001332HP:0001332Dystonia0NDUFA9 CL E G H4704255241ORPHA12357693603834
HP:0001332HP:0001332Dystonia0NDUFA9 CL E G H4704618247MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 26618247OMIM12357693603834
HP:0001332HP:0001332Dystonia0NDUFAF2 CL E G H91942255241ORPHA113228086609653
HP:0001332HP:0001332Dystonia0NDUFAF4 CL E G H29078618237MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 15618237OMIM113621034611776
HP:0001332HP:0001332Dystonia0NDUFAF5 CL E G H79133255241ORPHA138315899612360
HP:0001332HP:0001332Dystonia0NDUFAF5 CL E G H79133618238MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 16618238OMIM138315899612360
HP:0001332HP:0001332Dystonia0NDUFAF6 CL E G H137682255241ORPHA128128625612392
HP:0001332HP:0001332Dystonia0NDUFAF6 CL E G H137682618239MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 17618239OMIM128128625612392
HP:0001332HP:0001332Dystonia0NDUFS1 CL E G H4719255241ORPHA14247707157655
HP:0001332HP:0001332Dystonia0NDUFS1 CL E G H4719618226MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 5618226OMIM14247707157655
HP:0001332HP:0001332Dystonia0NDUFS2 CL E G H4720255241ORPHA12477708602985
HP:0001332HP:0001332Dystonia0NDUFS3 CL E G H4722255241ORPHA11477710603846
HP:0001332HP:0001332Dystonia0NDUFS3 CL E G H4722618230MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 8618230OMIM11477710603846
HP:0001332HP:0001332Dystonia0NDUFS4 CL E G H4724255241ORPHA11397711602694
HP:0001332HP:0001332Dystonia0NDUFS7 CL E G H374291255241ORPHA12157714601825
HP:0001332HP:0001332Dystonia0NDUFS7 CL E G H374291618224MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 3618224OMIM12157714601825
HP:0001332HP:0001332Dystonia0NDUFS8 CL E G H4728255241ORPHA11297715602141
HP:0001332HP:0001332Dystonia0NDUFS8 CL E G H4728618222MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 2618222OMIM11297715602141
HP:0001332HP:0001332Dystonia0NDUFV1 CL E G H4723255241ORPHA13157716161015
HP:0001332HP:0001332Dystonia0NDUFV2 CL E G H4729255241ORPHA12297717600532
HP:0001332HP:0001332Dystonia0NHLRC2 CL E G H374354618278618278618278OMIM167247310
HP:0001332HP:0001332Dystonia0NKX2-1 CL E G H7080610978Choreoathetosis, hypothyroidism, and neonatal respiratory distress610978C1970269OMIM131711825600635
HP:0001332HP:0001332Dystonia0NKX6-2 CL E G H84504527497ORPHA123319321605955
HP:0001332HP:0001332Dystonia0NKX6-2 CL E G H84504617560SPASTIC ATAXIA 8, AUTOSOMAL RECESSIVE, WITH HYPOMYELINATING LEUKODYSTROPHY617560C4479653OMIM123319321605955
HP:0001332HP:0001332Dystonia0NPC1 CL E G H4864257220Niemann-Pick disease type C1257220C3179455OMIM121097897607623
HP:0001332HP:0001332Dystonia0NPC2 CL E G H10577607625Niemann-Pick disease type C2607625C1843366OMIM123214537601015
HP:0001332HP:0001332Dystonia0NR4A2 CL E G H4929168600Parkinson disease, late-onset168600C3160718OMIM11437981601828
HP:0001332HP:0001332Dystonia0NUP62 CL E G H23636225154ORPHA11618066605815
HP:0001332HP:0001332Dystonia0NUP62 CL E G H23636271930Striatonigral degeneration infantile271930C0795996OMIM11618066605815
HP:0001332HP:0001332Dystonia0PANK2 CL E G H80025607236Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration607236C1846582OMIM149915894606157
HP:0001332HP:0001332Dystonia0PCCA CL E G H5095606054Propionyl-CoA carboxylase deficiency606054C0268579OMIM111898653232000
HP:0001332HP:0001332Dystonia0PCCB CL E G H5096606054Propionyl-CoA carboxylase deficiency606054C0268579OMIM19718654232050
HP:0001332HP:0001332Dystonia0PCDH12 CL E G H51294251280Microcephaly with spastic quadriplegia251280C1855055OMIM13738657605622
HP:0001332HP:0001332Dystonia0PDGFB CL E G H5155213600Idiopathic basal ganglia calcification 1213600C0393590OMIM11518800190040
HP:0001332HP:0001332Dystonia0PDGFRB CL E G H5159213600Idiopathic basal ganglia calcification 1213600C0393590OMIM15318804173410
HP:0001332HP:0001332Dystonia0PDHA1 CL E G H5160255241ORPHA16798806300502
HP:0001332HP:0001332Dystonia0PDHA1 CL E G H5160312170Pyruvate dehydrogenase E1-alpha deficiency312170C1839413OMIM16798806300502
HP:0001332HP:0001332Dystonia0PDHX CL E G H8050245349Pyruvate dehydrogenase E3-binding protein deficiency245349C1855553OMIM137221350608769
HP:0001332HP:0001332Dystonia0PET100 CL E G H100131801255241ORPHA17640038614770
HP:0001332HP:0001332Dystonia0PINK1 CL E G H65018605909Parkinson disease 6, autosomal recessive early-onset605909C1853833OMIM138414581608309
HP:0001332HP:0001332Dystonia0PLA2G6 CL E G H8398610217Neurodegeneration with brain iron accumulation 2b610217C1857747OMIM17759039603604
HP:0001332HP:0001332Dystonia0PLA2G6 CL E G H8398612953Parkinson disease 14612953C2751842OMIM17759039603604
HP:0001332HP:0001332Dystonia0PLAA CL E G H9373521426ORPHA15059043603873
HP:0001332HP:0001332Dystonia0PLP1 CL E G H5354312080Pelizaeus-Merzbacher disease312080C0205711OMIM14519086300401
HP:0001332HP:0001332Dystonia0PMPCB CL E G H9512617954MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 6617954CN244567OMIM11339119603131
HP:0001332HP:0001332Dystonia0PNKP CL E G H11284616267Ataxia-oculomotor apraxia 4616267C4225397OMIM110289154605610
HP:0001332HP:0001332Dystonia0PNPLA8 CL E G H50640251950Mitochondrial myopathy with lactic acidosis251950C1855033OMIM127128900612123
HP:0001332HP:0001332Dystonia0PNPT1 CL E G H87178614932Combined oxidative phosphorylation deficiency 13614932C3554129OMIM176123166610316
HP:0001332HP:0001332Dystonia0PODXL CL E G H5420391411ORPHA12009171602632
HP:0001332HP:0001332Dystonia0POLR3A CL E G H11128447896ORPHA1102530074614258
HP:0001332HP:0001332Dystonia0POLR3A CL E G H11128607694Hypomyelinating leukodystrophy 7607694C2676243OMIM1102530074614258
HP:0001332HP:0001332Dystonia0POLR3B CL E G H55703607694Hypomyelinating leukodystrophy 7607694C2676243OMIM151030348614366
HP:0001332HP:0001332Dystonia0PRKN CL E G H5071600116Parkinson disease 2600116C1868675OMIM17058607602544
HP:0001332HP:0001332Dystonia0PSAP CL E G H5660139406ORPHA17729498176801
HP:0001332HP:0001332Dystonia0PSAP CL E G H5660309256ORPHA17729498176801
HP:0001332HP:0001332Dystonia0PSAP CL E G H5660309263ORPHA17729498176801
HP:0001332HP:0001332Dystonia0PSAP CL E G H5660309271ORPHA17729498176801
HP:0001332HP:0001332Dystonia0PSEN1 CL E G H5663607822Alzheimer disease, type 3607822C1843013OMIM15019508104311
HP:0001332HP:0001332Dystonia0PTS CL E G H58052616406-pyruvoyl-tetrahydropterin synthase deficiency261640C0878676OMIM12639689612719
HP:0001332HP:0001332Dystonia0QDPR CL E G H5860261630Dihydropteridine reductase deficiency261630C0268465OMIM13199752612676
HP:0001332HP:0001332Dystonia0RAB11B CL E G H9230617807NEURODEVELOPMENTAL DISORDER WITH ATAXIC GAIT, ABSENT SPEECH, AND DECREASED CORTICAL WHITE MATTER617807C4540498OMIM11619761604198
HP:0001332HP:0001332Dystonia0RARS CL E G H5917438114ORPHA19870107820
HP:0001332HP:0001332Dystonia0RHOBTB2 CL E G H23221618004EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 64618004CN248512OMIM159218756607352
HP:0001332HP:0001332Dystonia0RNASEH2A CL E G H1053551ORPHA140418518606034
HP:0001332HP:0001332Dystonia0RNASEH2A CL E G H10535610333Aicardi Goutieres syndrome 4610333C1835912OMIM140418518606034
HP:0001332HP:0001332Dystonia0RNASEH2B CL E G H7962151ORPHA142625671610326
HP:0001332HP:0001332Dystonia0RNASEH2C CL E G H8415351ORPHA130724116610330
HP:0001332HP:0001332Dystonia0RNASEH2C CL E G H84153610329Aicardi Goutieres syndrome 3610329C1835916OMIM130724116610330
HP:0001332HP:0001332Dystonia0SAMHD1 CL E G H2593951ORPHA174615925606754
HP:0001332HP:0001332Dystonia0SDHA CL E G H6389255241ORPHA1250310680600857
HP:0001332HP:0001332Dystonia0SDHA CL E G H6389256000Leigh syndrome256000C0023264OMIM1250310680600857
HP:0001332HP:0001332Dystonia0SDHA CL E G H6389252011Mitochondrial complex II deficiency252011C1855008OMIM1250310680600857
HP:0001332HP:0001332Dystonia0SDHAF1 CL E G H644096252011Mitochondrial complex II deficiency252011C1855008OMIM17733867612848
HP:0001332HP:0001332Dystonia0SDHD CL E G H6392252011Mitochondrial complex II deficiency252011C1855008OMIM168610683602690
HP:0001332HP:0001332Dystonia0SERAC1 CL E G H849476147393-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome614739C3553597OMIM140021061614725
HP:0001332HP:0001332Dystonia0SLC19A3 CL E G H80704255241ORPHA156316266606152
HP:0001332HP:0001332Dystonia0SLC19A3 CL E G H80704607483Basal ganglia disease, biotin-responsive607483C1843807OMIM156316266606152
HP:0001332HP:0001332Dystonia0SLC20A2 CL E G H6575213600Idiopathic basal ganglia calcification 1213600C0393590OMIM133710947158378
HP:0001332HP:0001332Dystonia0SLC2A1 CL E G H651353583ORPHA196511005138140
HP:0001332HP:0001332Dystonia0SLC2A1 CL E G H651371277ORPHA196511005138140
HP:0001332HP:0001332Dystonia0SLC2A1 CL E G H6513601042Dystonia 9601042C1832855OMIM196511005138140
HP:0001332HP:0001332Dystonia0SLC2A1 CL E G H6513612126GLUT1 deficiency syndrome 2612126C1842534OMIM196511005138140
HP:0001332HP:0001332Dystonia0SLC30A10 CL E G H55532309854ORPHA127525355611146
HP:0001332HP:0001332Dystonia0SLC30A10 CL E G H55532613280Hypermanganesemia with dystonia 1613280OMIM127525355611146
HP:0001332HP:0001332Dystonia0SLC30A9 CL E G H10463617595Birk-Landau-Perez syndrome617595C4539828OMIM1451329604604
HP:0001332HP:0001332Dystonia0SLC6A8 CL E G H653552503ORPHA1106211055300036
HP:0001332HP:0001332Dystonia0SLC6A8 CL E G H6535300352Creatine deficiency, X-linked300352C1845862OMIM1106211055300036
HP:0001332HP:0001332Dystonia0SLC9A6 CL E G H1047985278ORPHA161211079300231
HP:0001332HP:0001332Dystonia0SNCA CL E G H6622171695ORPHA119311138163890
HP:0001332HP:0001332Dystonia0SNCA CL E G H6622168601Parkinson disease 1168601C1868595OMIM119311138163890
HP:0001332HP:0001332Dystonia0SNCAIP CL E G H9627168600Parkinson disease, late-onset168600C3160718OMIM116011139603779
HP:0001332HP:0001332Dystonia0SNORD118 CL E G H727676614561Leukoencephalopathy, brain calcifications, and cysts614561C3281200OMIM118932952616663
HP:0001332HP:0001332Dystonia0SPR CL E G H6697612716Sepiapterin reductase deficiency612716C0268468OMIM119811257182125
HP:0001332HP:0001332Dystonia0SQSTM1 CL E G H8878617145Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset617145C4310693OMIM167711280601530
HP:0001332HP:0001332Dystonia0STN1 CL E G H79991617341Cerebroretinal microangiopathy with calcifications and cysts 2617341C4479220OMIM122526200613128
HP:0001332HP:0001332Dystonia0SUCLA2 CL E G H8803612073Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)612073C2749864OMIM141311448603921
HP:0001332HP:0001332Dystonia0SURF1 CL E G H6834255241ORPHA153211474185620
HP:0001332HP:0001332Dystonia0SURF1 CL E G H6834616684Charcot-Marie-Tooth disease, type 4k616684C4225246OMIM153211474185620
HP:0001332HP:0001332Dystonia0SURF1 CL E G H6834256000Leigh syndrome256000C0023264OMIM153211474185620
HP:0001332HP:0001332Dystonia0SYNJ1 CL E G H8867391411ORPHA1131511503604297
HP:0001332HP:0001332Dystonia0SYNJ1 CL E G H8867615530Parkinson disease 20, early-onset615530C3809824OMIM1131511503604297
HP:0001332HP:0001332Dystonia0SYT1 CL E G H6857618218BAKER-GORDON SYNDROME618218OMIM17611509185605
HP:0001332HP:0001332Dystonia0TACO1 CL E G H51204255241ORPHA111724316612958
HP:0001332HP:0001332Dystonia0TBC1D24 CL E G H57465352596ORPHA189329203613577
HP:0001332HP:0001332Dystonia0TBC1D24 CL E G H57465615338Early infantile epileptic encephalopathy 16615338C3809173OMIM189329203613577
HP:0001332HP:0001332Dystonia0TBP CL E G H6908607136Spinocerebellar ataxia 17607136C1846707OMIM113111588600075
HP:0001332HP:0001332Dystonia0TIMM8A CL E G H1678304700Mohr-Tranebjaerg syndrome304700C0796074OMIM122711817300356
HP:0001332HP:0001332Dystonia0TMEM106B CL E G H54664617964LEUKODYSTROPHY, HYPOMYELINATING, 16617964CN244907OMIM112822407613413
HP:0001332HP:0001332Dystonia0TPI1 CL E G H7167615512Triosephosphate isomerase deficiency615512C1860808OMIM118112009190450
HP:0001332HP:0001332Dystonia0TPK1 CL E G H27010614458Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type)614458C3280866OMIM131817358606370
HP:0001332HP:0001332Dystonia0TRAPPC11 CL E G H60684615356Limb-girdle muscular dystrophy, type 2S615356C3809236OMIM198325751614138
HP:0001332HP:0001332Dystonia0TRAPPC12 CL E G H51112617669ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND SPASTICITY617669C4540059OMIM120224284614139
HP:0001332HP:0001332Dystonia0TREX1 CL E G H1127751ORPHA141812269606609
HP:0001332HP:0001332Dystonia0TREX1 CL E G H11277225750Aicardi Goutieres syndrome 1225750C0796126OMIM141812269606609
HP:0001332HP:0001332Dystonia0TRIT1 CL E G H54802617873COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 35617873CN807948OMIM111320286617840
HP:0001332HP:0001332Dystonia0TSEN2 CL E G H80746612389Pontocerebellar hypoplasia type 2B612389C2676466OMIM128028422608753
HP:0001332HP:0001332Dystonia0TSEN34 CL E G H79042612390Pontocerebellar hypoplasia type 2C612390C2676465OMIM116815506608754
HP:0001332HP:0001332Dystonia0TSFM CL E G H10102610505Combined oxidative phosphorylation deficiency 3610505C1864840OMIM143412367604723
HP:0001332HP:0001332Dystonia0TTC19 CL E G H54902615157Mitochondrial complex III deficiency, nuclear type 2615157C3554605OMIM134326006613814
HP:0001332HP:0001332Dystonia0TUBB4A CL E G H10382612438Leukodystrophy, hypomyelinating, 6612438C2676244OMIM127220774602662
HP:0001332HP:0001332Dystonia0TXN2 CL E G H25828616811Combined oxidative phosphorylation deficiency 29616811C4225200OMIM17617772609063
HP:0001332HP:0001332Dystonia0UBA5 CL E G H79876617132Epileptic encephalopathy, early infantile, 44617132C4310700OMIM122323230610552
HP:0001332HP:0001332Dystonia0UBQLN2 CL E G H29978300857Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia300857C3275459OMIM127312509300264
HP:0001332HP:0001332Dystonia0UBTF CL E G H7343617672NEURODEGENERATION, CHILDHOOD-ONSET, WITH BRAIN ATROPHY617672C4540086OMIM18412511600673
HP:0001332HP:0001332Dystonia0UFM1 CL E G H51569617899LEUKODYSTROPHY, HYPOMYELINATING, 14617899CN845004OMIM17720597610553
HP:0001332HP:0001332Dystonia0UPB1 CL E G H51733613161Deficiency of beta-ureidopropionase613161C1291512OMIM127116297606673
HP:0001332HP:0001332Dystonia0UQCRQ CL E G H27089615159Mitochondrial complex III deficiency, nuclear type 4615159C3554607OMIM110229594612080
HP:0001332HP:0001332Dystonia0VAMP1 CL E G H6843108600Ataxia, spastic, 1, autosomal dominant108600C1970107OMIM114112642185880
HP:0001332HP:0001332Dystonia0VCP CL E G H7415167320Inclusion body myopathy with early-onset paget disease and frontotemporal dementia167320C1833662OMIM160712666601023
HP:0001332HP:0001332Dystonia0VPS13A CL E G H232302388ORPHA123621908605978
HP:0001332HP:0001332Dystonia0VPS13A CL E G H23230200150Choreoacanthocytosis200150C0393576OMIM123621908605978
HP:0001332HP:0001332Dystonia0VPS13D CL E G H55187607317Spinocerebellar ataxia autosomal recessive 4607317C1846492OMIM1103423595608877
HP:0001332HP:0001332Dystonia0WARS2 CL E G H10352617710NEURODEVELOPMENTAL DISORDER, MITOCHONDRIAL, WITH ABNORMAL MOVEMENTS AND LACTIC ACIDOSIS, WITH OR WITHOUT SEIZURES617710C4540192OMIM114412730604733
HP:0001332HP:0001332Dystonia0WDR45 CL E G H11152329284ORPHA158728912300526
HP:0001332HP:0001332Dystonia0WDR45 CL E G H11152300894Neurodegeneration with brain iron accumulation 5300894C3550973OMIM158728912300526
HP:0001332HP:0001332Dystonia0YY1 CL E G H7528617557GABRIELE-DE VRIES SYNDROME617557C4479652OMIM111712856600013
HP:0001332HP:0001332Dystonia0ZC4H2 CL E G H55906314580Wieacker Wolff syndrome314580C0796200OMIM127924931300897
HP:0001332HP:0002530Axial dystonia1AARS2 CL E G H57505615889Leukoencephalopathy, progressive, with ovarian failure615889C4014588OMIM154321022612035
HP:0001332HP:0004373Focal dystonia1AARS2 CL E G H57505615889Leukoencephalopathy, progressive, with ovarian failure615889C4014588OMIM154321022612035
HP:0001332HP:0007325Generalized dystonia1AARS2 CL E G H57505615889Leukoencephalopathy, progressive, with ovarian failure615889C4014588OMIM154321022612035
HP:0001332HP:0032005Hemidystonia1AARS2 CL E G H57505615889Leukoencephalopathy, progressive, with ovarian failure615889C4014588OMIM154321022612035
HP:0001332HP:0002451Limb dystonia1AARS2 CL E G H57505615889Leukoencephalopathy, progressive, with ovarian failure615889C4014588OMIM154321022612035
HP:0001332HP:0010553Oculogyric crisis1AARS2 CL E G H57505615889Leukoencephalopathy, progressive, with ovarian failure615889C4014588OMIM154321022612035
HP:0001332HP:0002268Paroxysmal dystonia1AARS2 CL E G H57505615889Leukoencephalopathy, progressive, with ovarian failure615889C4014588OMIM154321022612035
HP:0001332HP:0001304Torsion dystonia1AARS2 CL E G H57505615889Leukoencephalopathy, progressive, with ovarian failure615889C4014588OMIM154321022612035
HP:0001332HP:0002530Axial dystonia1ACER3 CL E G H55331617762LEUKODYSTROPHY, PROGRESSIVE, EARLY CHILDHOOD-ONSET617762C4540358OMIM17316066617036
HP:0001332HP:0004373Focal dystonia1ACER3 CL E G H55331617762LEUKODYSTROPHY, PROGRESSIVE, EARLY CHILDHOOD-ONSET617762C4540358OMIM17316066617036
HP:0001332HP:0007325Generalized dystonia1ACER3 CL E G H55331617762LEUKODYSTROPHY, PROGRESSIVE, EARLY CHILDHOOD-ONSET617762C4540358OMIM17316066617036
HP:0001332HP:0032005Hemidystonia1ACER3 CL E G H55331617762LEUKODYSTROPHY, PROGRESSIVE, EARLY CHILDHOOD-ONSET617762C4540358OMIM17316066617036
HP:0001332HP:0002451Limb dystonia1ACER3 CL E G H55331617762LEUKODYSTROPHY, PROGRESSIVE, EARLY CHILDHOOD-ONSET617762C4540358OMIM17316066617036
HP:0001332HP:0010553Oculogyric crisis1ACER3 CL E G H55331617762LEUKODYSTROPHY, PROGRESSIVE, EARLY CHILDHOOD-ONSET617762C4540358OMIM17316066617036
HP:0001332HP:0002268Paroxysmal dystonia1ACER3 CL E G H55331617762LEUKODYSTROPHY, PROGRESSIVE, EARLY CHILDHOOD-ONSET617762C4540358OMIM17316066617036
HP:0001332HP:0001304Torsion dystonia1ACER3 CL E G H55331617762LEUKODYSTROPHY, PROGRESSIVE, EARLY CHILDHOOD-ONSET617762C4540358OMIM17316066617036
HP:0001332HP:0002530Axial dystonia1ACOX1 CL E G H51264470Pseudoneonatal adrenoleukodystrophy264470C1849678OMIM1665119609751
HP:0001332HP:0004373Focal dystonia1ACOX1 CL E G H51264470Pseudoneonatal adrenoleukodystrophy264470C1849678OMIM1665119609751
HP:0001332HP:0007325Generalized dystonia1ACOX1 CL E G H51264470Pseudoneonatal adrenoleukodystrophy264470C1849678OMIM1665119609751
HP:0001332HP:0032005Hemidystonia1ACOX1 CL E G H51264470Pseudoneonatal adrenoleukodystrophy264470C1849678OMIM1665119609751
HP:0001332HP:0002451Limb dystonia1ACOX1 CL E G H51264470Pseudoneonatal adrenoleukodystrophy264470C1849678OMIM1665119609751
HP:0001332HP:0010553Oculogyric crisis1ACOX1 CL E G H51264470Pseudoneonatal adrenoleukodystrophy264470C1849678OMIM1665119609751
HP:0001332HP:0002268Paroxysmal dystonia1ACOX1 CL E G H51264470Pseudoneonatal adrenoleukodystrophy264470C1849678OMIM1665119609751
HP:0001332HP:0001304Torsion dystonia1ACOX1 CL E G H51264470Pseudoneonatal adrenoleukodystrophy264470C1849678OMIM1665119609751
HP:0001332HP:0002530Axial dystonia1ADAR CL E G H10351ORPHA11122225146920
HP:0001332HP:0004373Focal dystonia1ADAR CL E G H10351ORPHA11122225146920
HP:0001332HP:0007325Generalized dystonia1ADAR CL E G H10351ORPHA11122225146920
HP:0001332HP:0032005Hemidystonia1ADAR CL E G H10351ORPHA11122225146920
HP:0001332HP:0002451Limb dystonia1ADAR CL E G H10351ORPHA11122225146920
HP:0001332HP:0010553Oculogyric crisis1ADAR CL E G H10351ORPHA11122225146920
HP:0001332HP:0002268Paroxysmal dystonia1ADAR CL E G H10351ORPHA11122225146920
HP:0001332HP:0001304Torsion dystonia1ADAR CL E G H10351ORPHA11122225146920
HP:0001332HP:0002530Axial dystonia1ADAR CL E G H103225154ORPHA11122225146920
HP:0001332HP:0004373Focal dystonia1ADAR CL E G H103225154ORPHA11122225146920
HP:0001332HP:0007325Generalized dystonia1ADAR CL E G H103225154ORPHA11122225146920
HP:0001332HP:0032005Hemidystonia1ADAR CL E G H103225154ORPHA11122225146920
HP:0001332HP:0002451Limb dystonia1ADAR CL E G H103225154ORPHA11122225146920
HP:0001332HP:0010553Oculogyric crisis1ADAR CL E G H103225154ORPHA11122225146920
HP:0001332HP:0002268Paroxysmal dystonia1ADAR CL E G H103225154ORPHA11122225146920
HP:0001332HP:0001304Torsion dystonia1ADAR CL E G H103225154ORPHA11122225146920
HP:0001332HP:0002530Axial dystonia1ADAR CL E G H103615010Aicardi-Goutieres syndrome 6615010C3539013OMIM11122225146920
HP:0001332HP:0004373Focal dystonia1ADAR CL E G H103615010Aicardi-Goutieres syndrome 6615010C3539013OMIM11122225146920
HP:0001332HP:0007325Generalized dystonia1ADAR CL E G H103615010Aicardi-Goutieres syndrome 6615010C3539013OMIM11122225146920
HP:0001332HP:0032005Hemidystonia1ADAR CL E G H103615010Aicardi-Goutieres syndrome 6615010C3539013OMIM11122225146920
HP:0001332HP:0002451Limb dystonia1ADAR CL E G H103615010Aicardi-Goutieres syndrome 6615010C3539013OMIM11122225146920
HP:0001332HP:0010553Oculogyric crisis1ADAR CL E G H103615010Aicardi-Goutieres syndrome 6615010C3539013OMIM11122225146920
HP:0001332HP:0002268Paroxysmal dystonia1ADAR CL E G H103615010Aicardi-Goutieres syndrome 6615010C3539013OMIM11122225146920
HP:0001332HP:0001304Torsion dystonia1ADAR CL E G H103615010Aicardi-Goutieres syndrome 6615010C3539013OMIM11122225146920
HP:0001332HP:0002530Axial dystonia1ADCY5 CL E G H111324588ORPHA1653236600293
HP:0001332HP:0004373Focal dystonia1ADCY5 CL E G H111324588ORPHA1653236600293
HP:0001332HP:0007325Generalized dystonia1ADCY5 CL E G H111324588ORPHA1653236600293
HP:0001332HP:0032005Hemidystonia1ADCY5 CL E G H111324588ORPHA1653236600293
HP:0001332HP:0002451Limb dystonia1ADCY5 CL E G H111324588ORPHA1653236600293
HP:0001332HP:0010553Oculogyric crisis1ADCY5 CL E G H111324588ORPHA1653236600293
HP:0001332HP:0002268Paroxysmal dystonia1ADCY5 CL E G H111324588ORPHA1653236600293
HP:0001332HP:0001304Torsion dystonia1ADCY5 CL E G H111324588ORPHA1653236600293
HP:0001332HP:0002530Axial dystonia1ADCY5 CL E G H111606703Dyskinesia, familial, with facial myokymia606703C1847627OMIM1653236600293
HP:0001332HP:0004373Focal dystonia1ADCY5 CL E G H111606703Dyskinesia, familial, with facial myokymia606703C1847627OMIM1653236600293
HP:0001332HP:0007325Generalized dystonia1ADCY5 CL E G H111606703Dyskinesia, familial, with facial myokymia606703C1847627OMIM1653236600293
HP:0001332HP:0032005Hemidystonia1ADCY5 CL E G H111606703Dyskinesia, familial, with facial myokymia606703C1847627OMIM1653236600293
HP:0001332HP:0002451Limb dystonia1ADCY5 CL E G H111606703Dyskinesia, familial, with facial myokymia606703C1847627OMIM1653236600293
HP:0001332HP:0010553Oculogyric crisis1ADCY5 CL E G H111606703Dyskinesia, familial, with facial myokymia606703C1847627OMIM1653236600293
HP:0001332HP:0002268Paroxysmal dystonia1ADCY5 CL E G H111606703Dyskinesia, familial, with facial myokymia606703C1847627OMIM1653236600293
HP:0001332HP:0001304Torsion dystonia1ADCY5 CL E G H111606703Dyskinesia, familial, with facial myokymia606703C1847627OMIM1653236600293
HP:0001332HP:0002530Axial dystonia1AFG3L2 CL E G H10939313772ORPHA1480315604581
HP:0001332HP:0004373Focal dystonia1AFG3L2 CL E G H10939313772ORPHA1480315604581
HP:0001332HP:0007325Generalized dystonia1AFG3L2 CL E G H10939313772ORPHA1480315604581
HP:0001332HP:0032005Hemidystonia1AFG3L2 CL E G H10939313772ORPHA1480315604581
HP:0001332HP:0002451Limb dystonia1AFG3L2 CL E G H10939313772ORPHA1480315604581
HP:0001332HP:0010553Oculogyric crisis1AFG3L2 CL E G H10939313772ORPHA1480315604581
HP:0001332HP:0002268Paroxysmal dystonia1AFG3L2 CL E G H10939313772ORPHA1480315604581
HP:0001332HP:0001304Torsion dystonia1AFG3L2 CL E G H10939313772ORPHA1480315604581
HP:0001332HP:0002530Axial dystonia1AFG3L2 CL E G H10939614487Spastic ataxia 5, autosomal recessive614487C3280977OMIM1480315604581
HP:0001332HP:0004373Focal dystonia1AFG3L2 CL E G H10939614487Spastic ataxia 5, autosomal recessive614487C3280977OMIM1480315604581
HP:0001332HP:0007325Generalized dystonia1AFG3L2 CL E G H10939614487Spastic ataxia 5, autosomal recessive614487C3280977OMIM1480315604581
HP:0001332HP:0032005Hemidystonia1AFG3L2 CL E G H10939614487Spastic ataxia 5, autosomal recessive614487C3280977OMIM1480315604581
HP:0001332HP:0002451Limb dystonia1AFG3L2 CL E G H10939614487Spastic ataxia 5, autosomal recessive614487C3280977OMIM1480315604581
HP:0001332HP:0010553Oculogyric crisis1AFG3L2 CL E G H10939614487Spastic ataxia 5, autosomal recessive614487C3280977OMIM1480315604581
HP:0001332HP:0002268Paroxysmal dystonia1AFG3L2 CL E G H10939614487Spastic ataxia 5, autosomal recessive614487C3280977OMIM1480315604581
HP:0001332HP:0001304Torsion dystonia1AFG3L2 CL E G H10939614487Spastic ataxia 5, autosomal recessive614487C3280977OMIM1480315604581
HP:0001332HP:0002530Axial dystonia1ALDH6A1 CL E G H4329614105Methylmalonate semialdehyde dehydrogenase deficiency614105C3279840OMIM12097179603178
HP:0001332HP:0004373Focal dystonia1ALDH6A1 CL E G H4329614105Methylmalonate semialdehyde dehydrogenase deficiency614105C3279840OMIM12097179603178
HP:0001332HP:0007325Generalized dystonia1ALDH6A1 CL E G H4329614105Methylmalonate semialdehyde dehydrogenase deficiency614105C3279840OMIM12097179603178
HP:0001332HP:0032005Hemidystonia1ALDH6A1 CL E G H4329614105Methylmalonate semialdehyde dehydrogenase deficiency614105C3279840OMIM12097179603178
HP:0001332HP:0002451Limb dystonia1ALDH6A1 CL E G H4329614105Methylmalonate semialdehyde dehydrogenase deficiency614105C3279840OMIM12097179603178
HP:0001332HP:0010553Oculogyric crisis1ALDH6A1 CL E G H4329614105Methylmalonate semialdehyde dehydrogenase deficiency614105C3279840OMIM12097179603178
HP:0001332HP:0002268Paroxysmal dystonia1ALDH6A1 CL E G H4329614105Methylmalonate semialdehyde dehydrogenase deficiency614105C3279840OMIM12097179603178
HP:0001332HP:0001304Torsion dystonia1ALDH6A1 CL E G H4329614105Methylmalonate semialdehyde dehydrogenase deficiency614105C3279840OMIM12097179603178
HP:0001332HP:0002530Axial dystonia1AP3D1 CL E G H8943617050Hermansky-Pudlak syndrome 10617050C4310746OMIM1893568607246
HP:0001332HP:0004373Focal dystonia1AP3D1 CL E G H8943617050Hermansky-Pudlak syndrome 10617050C4310746OMIM1893568607246
HP:0001332HP:0007325Generalized dystonia1AP3D1 CL E G H8943617050Hermansky-Pudlak syndrome 10617050C4310746OMIM1893568607246
HP:0001332HP:0032005Hemidystonia1AP3D1 CL E G H8943617050Hermansky-Pudlak syndrome 10617050C4310746OMIM1893568607246
HP:0001332HP:0002451Limb dystonia1AP3D1 CL E G H8943617050Hermansky-Pudlak syndrome 10617050C4310746OMIM1893568607246
HP:0001332HP:0010553Oculogyric crisis1AP3D1 CL E G H8943617050Hermansky-Pudlak syndrome 10617050C4310746OMIM1893568607246
HP:0001332HP:0002268Paroxysmal dystonia1AP3D1 CL E G H8943617050Hermansky-Pudlak syndrome 10617050C4310746OMIM1893568607246
HP:0001332HP:0001304Torsion dystonia1AP3D1 CL E G H8943617050Hermansky-Pudlak syndrome 10617050C4310746OMIM1893568607246
HP:0001332HP:0002530Axial dystonia1AP4B1 CL E G H10717280763ORPHA1403572607245
HP:0001332HP:0004373Focal dystonia1AP4B1 CL E G H10717280763ORPHA1403572607245
HP:0001332HP:0007325Generalized dystonia1AP4B1 CL E G H10717280763ORPHA1403572607245
HP:0001332HP:0032005Hemidystonia1AP4B1 CL E G H10717280763ORPHA1403572607245
HP:0001332HP:0002451Limb dystonia1AP4B1 CL E G H10717280763ORPHA1403572607245
HP:0001332HP:0010553Oculogyric crisis1AP4B1 CL E G H10717280763ORPHA1403572607245
HP:0001332HP:0002268Paroxysmal dystonia1AP4B1 CL E G H10717280763ORPHA1403572607245
HP:0001332HP:0001304Torsion dystonia1AP4B1 CL E G H10717280763ORPHA1403572607245
HP:0001332HP:0002530Axial dystonia1AP4B1 CL E G H10717614066Spastic paraplegia 47, autosomal recessive614066C3279738OMIM1403572607245
HP:0001332HP:0004373Focal dystonia1AP4B1 CL E G H10717614066Spastic paraplegia 47, autosomal recessive614066C3279738OMIM1403572607245
HP:0001332HP:0007325Generalized dystonia1AP4B1 CL E G H10717614066Spastic paraplegia 47, autosomal recessive614066C3279738OMIM1403572607245
HP:0001332HP:0032005Hemidystonia1AP4B1 CL E G H10717614066Spastic paraplegia 47, autosomal recessive614066C3279738OMIM1403572607245
HP:0001332HP:0002451Limb dystonia1AP4B1 CL E G H10717614066Spastic paraplegia 47, autosomal recessive614066C3279738OMIM1403572607245
HP:0001332HP:0010553Oculogyric crisis1AP4B1 CL E G H10717614066Spastic paraplegia 47, autosomal recessive614066C3279738OMIM1403572607245
HP:0001332HP:0002268Paroxysmal dystonia1AP4B1 CL E G H10717614066Spastic paraplegia 47, autosomal recessive614066C3279738OMIM1403572607245
HP:0001332HP:0001304Torsion dystonia1AP4B1 CL E G H10717614066Spastic paraplegia 47, autosomal recessive614066C3279738OMIM1403572607245
HP:0001332HP:0002530Axial dystonia1AP4E1 CL E G H23431280763ORPHA1509573607244
HP:0001332HP:0004373Focal dystonia1AP4E1 CL E G H23431280763ORPHA1509573607244
HP:0001332HP:0007325Generalized dystonia1AP4E1 CL E G H23431280763ORPHA1509573607244
HP:0001332HP:0032005Hemidystonia1AP4E1 CL E G H23431280763ORPHA1509573607244
HP:0001332HP:0002451Limb dystonia1AP4E1 CL E G H23431280763ORPHA1509573607244
HP:0001332HP:0010553Oculogyric crisis1AP4E1 CL E G H23431280763ORPHA1509573607244
HP:0001332HP:0002268Paroxysmal dystonia1AP4E1 CL E G H23431280763ORPHA1509573607244
HP:0001332HP:0001304Torsion dystonia1AP4E1 CL E G H23431280763ORPHA1509573607244
HP:0001332HP:0002530Axial dystonia1AP4M1 CL E G H9179280763ORPHA1429574602296
HP:0001332HP:0004373Focal dystonia1AP4M1 CL E G H9179280763ORPHA1429574602296
HP:0001332HP:0007325Generalized dystonia1AP4M1 CL E G H9179280763ORPHA1429574602296
HP:0001332HP:0032005Hemidystonia1AP4M1 CL E G H9179280763ORPHA1429574602296
HP:0001332HP:0002451Limb dystonia1AP4M1 CL E G H9179280763ORPHA1429574602296
HP:0001332HP:0010553Oculogyric crisis1AP4M1 CL E G H9179280763ORPHA1429574602296
HP:0001332HP:0002268Paroxysmal dystonia1AP4M1 CL E G H9179280763ORPHA1429574602296
HP:0001332HP:0001304Torsion dystonia1AP4M1 CL E G H9179280763ORPHA1429574602296
HP:0001332HP:0002530Axial dystonia1AP4S1 CL E G H11154280763ORPHA1148575607243
HP:0001332HP:0004373Focal dystonia1AP4S1 CL E G H11154280763ORPHA1148575607243
HP:0001332HP:0007325Generalized dystonia1AP4S1 CL E G H11154280763ORPHA1148575607243
HP:0001332HP:0032005Hemidystonia1AP4S1 CL E G H11154280763ORPHA1148575607243
HP:0001332HP:0002451Limb dystonia1AP4S1 CL E G H11154280763ORPHA1148575607243
HP:0001332HP:0010553Oculogyric crisis1AP4S1 CL E G H11154280763ORPHA1148575607243
HP:0001332HP:0002268Paroxysmal dystonia1AP4S1 CL E G H11154280763ORPHA1148575607243
HP:0001332HP:0001304Torsion dystonia1AP4S1 CL E G H11154280763ORPHA1148575607243
HP:0001332HP:0002530Axial dystonia1APTX CL E G H54840208920Ataxia-oculomotor apraxia type 1208920C1859598OMIM133115984606350
HP:0001332HP:0004373Focal dystonia1APTX CL E G H54840208920Ataxia-oculomotor apraxia type 1208920C1859598OMIM133115984606350
HP:0001332HP:0007325Generalized dystonia1APTX CL E G H54840208920Ataxia-oculomotor apraxia type 1208920C1859598OMIM133115984606350
HP:0001332HP:0032005Hemidystonia1APTX CL E G H54840208920Ataxia-oculomotor apraxia type 1208920C1859598OMIM133115984606350
HP:0001332HP:0002451Limb dystonia1APTX CL E G H54840208920Ataxia-oculomotor apraxia type 1208920C1859598OMIM133115984606350
HP:0001332HP:0010553Oculogyric crisis1APTX CL E G H54840208920Ataxia-oculomotor apraxia type 1208920C1859598OMIM133115984606350
HP:0001332HP:0002268Paroxysmal dystonia1APTX CL E G H54840208920Ataxia-oculomotor apraxia type 1208920C1859598OMIM133115984606350
HP:0001332HP:0001304Torsion dystonia1APTX CL E G H54840208920Ataxia-oculomotor apraxia type 1208920C1859598OMIM133115984606350
HP:0001332HP:0002530Axial dystonia1ARSA CL E G H410309256ORPHA11140713607574
HP:0001332HP:0004373Focal dystonia1ARSA CL E G H410309256ORPHA11140713607574
HP:0001332HP:0007325Generalized dystonia1ARSA CL E G H410309256ORPHA11140713607574
HP:0001332HP:0032005Hemidystonia1ARSA CL E G H410309256ORPHA11140713607574
HP:0001332HP:0002451Limb dystonia1ARSA CL E G H410309256ORPHA11140713607574
HP:0001332HP:0010553Oculogyric crisis1ARSA CL E G H410309256ORPHA11140713607574
HP:0001332HP:0002268Paroxysmal dystonia1ARSA CL E G H410309256ORPHA11140713607574
HP:0001332HP:0001304Torsion dystonia1ARSA CL E G H410309256ORPHA11140713607574
HP:0001332HP:0002530Axial dystonia1ARSA CL E G H410309263ORPHA11140713607574
HP:0001332HP:0004373Focal dystonia1ARSA CL E G H410309263ORPHA11140713607574
HP:0001332HP:0007325Generalized dystonia1ARSA CL E G H410309263ORPHA11140713607574
HP:0001332HP:0032005Hemidystonia1ARSA CL E G H410309263ORPHA11140713607574
HP:0001332HP:0002451Limb dystonia1ARSA CL E G H410309263ORPHA11140713607574
HP:0001332HP:0010553Oculogyric crisis1ARSA CL E G H410309263ORPHA11140713607574
HP:0001332HP:0002268Paroxysmal dystonia1ARSA CL E G H410309263ORPHA11140713607574
HP:0001332HP:0001304Torsion dystonia1ARSA CL E G H410309263ORPHA11140713607574
HP:0001332HP:0002530Axial dystonia1ARSA CL E G H410309271ORPHA11140713607574
HP:0001332HP:0004373Focal dystonia1ARSA CL E G H410309271ORPHA11140713607574
HP:0001332HP:0007325Generalized dystonia1ARSA CL E G H410309271ORPHA11140713607574
HP:0001332HP:0032005Hemidystonia1ARSA CL E G H410309271ORPHA11140713607574
HP:0001332HP:0002451Limb dystonia1ARSA CL E G H410309271ORPHA11140713607574
HP:0001332HP:0010553Oculogyric crisis1ARSA CL E G H410309271ORPHA11140713607574
HP:0001332HP:0002268Paroxysmal dystonia1ARSA CL E G H410309271ORPHA11140713607574
HP:0001332HP:0001304Torsion dystonia1ARSA CL E G H410309271ORPHA11140713607574
HP:0001332HP:0002530Axial dystonia1ARSA CL E G H410250100Metachromatic leukodystrophy250100C0023522OMIM11140713607574
HP:0001332HP:0004373Focal dystonia1ARSA CL E G H410250100Metachromatic leukodystrophy250100C0023522OMIM11140713607574
HP:0001332HP:0007325Generalized dystonia1ARSA CL E G H410250100Metachromatic leukodystrophy250100C0023522OMIM11140713607574
HP:0001332HP:0032005Hemidystonia1ARSA CL E G H410250100Metachromatic leukodystrophy250100C0023522OMIM11140713607574
HP:0001332HP:0002451Limb dystonia1ARSA CL E G H410250100Metachromatic leukodystrophy250100C0023522OMIM11140713607574
HP:0001332HP:0010553Oculogyric crisis1ARSA CL E G H410250100Metachromatic leukodystrophy250100C0023522OMIM11140713607574
HP:0001332HP:0002268Paroxysmal dystonia1ARSA CL E G H410250100Metachromatic leukodystrophy250100C0023522OMIM11140713607574
HP:0001332HP:0001304Torsion dystonia1ARSA CL E G H410250100Metachromatic leukodystrophy250100C0023522OMIM11140713607574
HP:0001332HP:0002530Axial dystonia1ARV1 CL E G H64801617020Epileptic encephalopathy, early infantile, 38617020C4310762OMIM18929561611647
HP:0001332HP:0004373Focal dystonia1ARV1 CL E G H64801617020Epileptic encephalopathy, early infantile, 38617020C4310762OMIM18929561611647
HP:0001332HP:0007325Generalized dystonia1ARV1 CL E G H64801617020Epileptic encephalopathy, early infantile, 38617020C4310762OMIM18929561611647
HP:0001332HP:0032005Hemidystonia1ARV1 CL E G H64801617020Epileptic encephalopathy, early infantile, 38617020C4310762OMIM18929561611647
HP:0001332HP:0002451Limb dystonia1ARV1 CL E G H64801617020Epileptic encephalopathy, early infantile, 38617020C4310762OMIM18929561611647
HP:0001332HP:0010553Oculogyric crisis1ARV1 CL E G H64801617020Epileptic encephalopathy, early infantile, 38617020C4310762OMIM18929561611647
HP:0001332HP:0002268Paroxysmal dystonia1ARV1 CL E G H64801617020Epileptic encephalopathy, early infantile, 38617020C4310762OMIM18929561611647
HP:0001332HP:0001304Torsion dystonia1ARV1 CL E G H64801617020Epileptic encephalopathy, early infantile, 38617020C4310762OMIM18929561611647
HP:0001332HP:0002530Axial dystonia1ARX CL E G H170302308350Epileptic encephalopathy, early infantile, 1308350C3463992OMIM181018060300382
HP:0001332HP:0004373Focal dystonia1ARX CL E G H170302308350Epileptic encephalopathy, early infantile, 1308350C3463992OMIM181018060300382
HP:0001332HP:0007325Generalized dystonia1ARX CL E G H170302308350Epileptic encephalopathy, early infantile, 1308350C3463992OMIM181018060300382
HP:0001332HP:0032005Hemidystonia1ARX CL E G H170302308350Epileptic encephalopathy, early infantile, 1308350C3463992OMIM181018060300382
HP:0001332HP:0002451Limb dystonia1ARX CL E G H170302308350Epileptic encephalopathy, early infantile, 1308350C3463992OMIM181018060300382
HP:0001332HP:0010553Oculogyric crisis1ARX CL E G H170302308350Epileptic encephalopathy, early infantile, 1308350C3463992OMIM181018060300382
HP:0001332HP:0002268Paroxysmal dystonia1ARX CL E G H170302308350Epileptic encephalopathy, early infantile, 1308350C3463992OMIM181018060300382
HP:0001332HP:0001304Torsion dystonia1ARX CL E G H170302308350Epileptic encephalopathy, early infantile, 1308350C3463992OMIM181018060300382
HP:0001332HP:0002530Axial dystonia1ATM CL E G H472208900Ataxia-telangiectasia syndrome208900C0004135OMIM114692795607585
HP:0001332HP:0004373Focal dystonia1ATM CL E G H472208900Ataxia-telangiectasia syndrome208900C0004135OMIM114692795607585
HP:0001332HP:0007325Generalized dystonia1ATM CL E G H472208900Ataxia-telangiectasia syndrome208900C0004135OMIM114692795607585
HP:0001332HP:0032005Hemidystonia1ATM CL E G H472208900Ataxia-telangiectasia syndrome208900C0004135OMIM114692795607585
HP:0001332HP:0002451Limb dystonia1ATM CL E G H472208900Ataxia-telangiectasia syndrome208900C0004135OMIM114692795607585
HP:0001332HP:0010553Oculogyric crisis1ATM CL E G H472208900Ataxia-telangiectasia syndrome208900C0004135OMIM114692795607585
HP:0001332HP:0002268Paroxysmal dystonia1ATM CL E G H472208900Ataxia-telangiectasia syndrome208900C0004135OMIM114692795607585
HP:0001332HP:0001304Torsion dystonia1ATM CL E G H472208900Ataxia-telangiectasia syndrome208900C0004135OMIM114692795607585
HP:0001332HP:0002530Axial dystonia1ATP13A2 CL E G H23400314632ORPHA197430213610513
HP:0001332HP:0004373Focal dystonia1ATP13A2 CL E G H23400314632ORPHA197430213610513
HP:0001332HP:0007325Generalized dystonia1ATP13A2 CL E G H23400314632ORPHA197430213610513
HP:0001332HP:0032005Hemidystonia1ATP13A2 CL E G H23400314632ORPHA197430213610513
HP:0001332HP:0002451Limb dystonia1ATP13A2 CL E G H23400314632ORPHA197430213610513
HP:0001332HP:0010553Oculogyric crisis1ATP13A2 CL E G H23400314632ORPHA197430213610513
HP:0001332HP:0002268Paroxysmal dystonia1ATP13A2 CL E G H23400314632ORPHA197430213610513
HP:0001332HP:0001304Torsion dystonia1ATP13A2 CL E G H23400314632ORPHA197430213610513
HP:0001332HP:0002530Axial dystonia1ATP13A2 CL E G H23400513436ORPHA197430213610513
HP:0001332HP:0004373Focal dystonia1ATP13A2 CL E G H23400513436ORPHA197430213610513
HP:0001332HP:0007325Generalized dystonia1ATP13A2 CL E G H23400513436ORPHA197430213610513
HP:0001332HP:0032005Hemidystonia1ATP13A2 CL E G H23400513436ORPHA197430213610513
HP:0001332HP:0002451Limb dystonia1ATP13A2 CL E G H23400513436ORPHA197430213610513
HP:0001332HP:0010553Oculogyric crisis1ATP13A2 CL E G H23400513436ORPHA197430213610513
HP:0001332HP:0002268Paroxysmal dystonia1ATP13A2 CL E G H23400513436ORPHA197430213610513
HP:0001332HP:0001304Torsion dystonia1ATP13A2 CL E G H23400513436ORPHA197430213610513
HP:0001332HP:0002530Axial dystonia1ATP1A2 CL E G H477104290Alternating hemiplegia of childhood 1104290C3549447OMIM11117800182340
HP:0001332HP:0004373Focal dystonia1ATP1A2 CL E G H477104290Alternating hemiplegia of childhood 1104290C3549447OMIM11117800182340
HP:0001332HP:0007325Generalized dystonia1ATP1A2 CL E G H477104290Alternating hemiplegia of childhood 1104290C3549447OMIM11117800182340
HP:0001332HP:0032005Hemidystonia1ATP1A2 CL E G H477104290Alternating hemiplegia of childhood 1104290C3549447OMIM11117800182340
HP:0001332HP:0002451Limb dystonia1ATP1A2 CL E G H477104290Alternating hemiplegia of childhood 1104290C3549447OMIM11117800182340
HP:0001332HP:0010553Oculogyric crisis1ATP1A2 CL E G H477104290Alternating hemiplegia of childhood 1104290C3549447OMIM11117800182340
HP:0001332HP:0002268Paroxysmal dystonia1ATP1A2 CL E G H477104290Alternating hemiplegia of childhood 1104290C3549447OMIM11117800182340
HP:0001332HP:0001304Torsion dystonia1ATP1A2 CL E G H477104290Alternating hemiplegia of childhood 1104290C3549447OMIM11117800182340
HP:0001332HP:0002530Axial dystonia1ATP1A3 CL E G H478614820Alternating hemiplegia of childhood 2614820C3553788OMIM1993801182350
HP:0001332HP:0004373Focal dystonia1ATP1A3 CL E G H478614820Alternating hemiplegia of childhood 2614820C3553788OMIM1993801182350
HP:0001332HP:0007325Generalized dystonia1ATP1A3 CL E G H478614820Alternating hemiplegia of childhood 2614820C3553788OMIM1993801182350
HP:0001332HP:0032005Hemidystonia1ATP1A3 CL E G H478614820Alternating hemiplegia of childhood 2614820C3553788OMIM1993801182350
HP:0001332HP:0002451Limb dystonia1ATP1A3 CL E G H478614820Alternating hemiplegia of childhood 2614820C3553788OMIM1993801182350
HP:0001332HP:0010553Oculogyric crisis1ATP1A3 CL E G H478614820Alternating hemiplegia of childhood 2614820C3553788OMIM1993801182350
HP:0001332HP:0002268Paroxysmal dystonia1ATP1A3 CL E G H478614820Alternating hemiplegia of childhood 2614820C3553788OMIM1993801182350
HP:0001332HP:0001304Torsion dystonia1ATP1A3 CL E G H478614820Alternating hemiplegia of childhood 2614820C3553788OMIM1993801182350
HP:0001332HP:0002530Axial dystonia1ATP1A3 CL E G H478601338Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss601338C1832466OMIM1993801182350
HP:0001332HP:0004373Focal dystonia1ATP1A3 CL E G H478601338Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss601338C1832466OMIM1993801182350
HP:0001332HP:0007325Generalized dystonia1ATP1A3 CL E G H478601338Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss601338C1832466OMIM1993801182350
HP:0001332HP:0032005Hemidystonia1ATP1A3 CL E G H478601338Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss601338C1832466OMIM1993801182350
HP:0001332HP:0002451Limb dystonia1ATP1A3 CL E G H478601338Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss601338C1832466OMIM1993801182350
HP:0001332HP:0010553Oculogyric crisis1ATP1A3 CL E G H478601338Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss601338C1832466OMIM1993801182350
HP:0001332HP:0002268Paroxysmal dystonia1ATP1A3 CL E G H478601338Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss601338C1832466OMIM1993801182350
HP:0001332HP:0001304Torsion dystonia1ATP1A3 CL E G H478601338Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss601338C1832466OMIM1993801182350
HP:0001332HP:0002530Axial dystonia1ATP7B CL E G H540277900Wilson disease277900C0019202OMIM12303870606882
HP:0001332HP:0004373Focal dystonia1ATP7B CL E G H540277900Wilson disease277900C0019202OMIM12303870606882
HP:0001332HP:0007325Generalized dystonia1ATP7B CL E G H540277900Wilson disease277900C0019202OMIM12303870606882
HP:0001332HP:0032005Hemidystonia1ATP7B CL E G H540277900Wilson disease277900C0019202OMIM12303870606882
HP:0001332HP:0002451Limb dystonia1ATP7B CL E G H540277900Wilson disease277900C0019202OMIM12303870606882
HP:0001332HP:0010553Oculogyric crisis1ATP7B CL E G H540277900Wilson disease277900C0019202OMIM12303870606882
HP:0001332HP:0002268Paroxysmal dystonia1ATP7B CL E G H540277900Wilson disease277900C0019202OMIM12303870606882
HP:0001332HP:0001304Torsion dystonia1ATP7B CL E G H540277900Wilson disease277900C0019202OMIM12303870606882
HP:0001332HP:0002530Axial dystonia1ATXN1 CL E G H631098755ORPHA112010548601556
HP:0001332HP:0004373Focal dystonia1ATXN1 CL E G H631098755ORPHA112010548601556
HP:0001332HP:0007325Generalized dystonia1ATXN1 CL E G H631098755ORPHA112010548601556
HP:0001332HP:0032005Hemidystonia1ATXN1 CL E G H631098755ORPHA112010548601556
HP:0001332HP:0002451Limb dystonia1ATXN1 CL E G H631098755ORPHA112010548601556
HP:0001332HP:0010553Oculogyric crisis1ATXN1 CL E G H631098755ORPHA112010548601556
HP:0001332HP:0002268Paroxysmal dystonia1ATXN1 CL E G H631098755ORPHA112010548601556
HP:0001332HP:0001304Torsion dystonia1ATXN1 CL E G H631098755ORPHA112010548601556
HP:0001332HP:0002530Axial dystonia1ATXN2 CL E G H631198756ORPHA111510555601517
HP:0001332HP:0004373Focal dystonia1ATXN2 CL E G H631198756ORPHA111510555601517
HP:0001332HP:0007325Generalized dystonia1ATXN2 CL E G H631198756ORPHA111510555601517
HP:0001332HP:0032005Hemidystonia1ATXN2 CL E G H631198756ORPHA111510555601517
HP:0001332HP:0002451Limb dystonia1ATXN2 CL E G H631198756ORPHA111510555601517
HP:0001332HP:0010553Oculogyric crisis1ATXN2 CL E G H631198756ORPHA111510555601517
HP:0001332HP:0002268Paroxysmal dystonia1ATXN2 CL E G H631198756ORPHA111510555601517
HP:0001332HP:0001304Torsion dystonia1ATXN2 CL E G H631198756ORPHA111510555601517
HP:0001332HP:0002530Axial dystonia1ATXN3 CL E G H4287276238ORPHA1657106607047
HP:0001332HP:0004373Focal dystonia1ATXN3 CL E G H4287276238ORPHA1657106607047
HP:0001332HP:0007325Generalized dystonia1ATXN3 CL E G H4287276238ORPHA1657106607047
HP:0001332HP:0032005Hemidystonia1ATXN3 CL E G H4287276238ORPHA1657106607047
HP:0001332HP:0002451Limb dystonia1ATXN3 CL E G H4287276238ORPHA1657106607047
HP:0001332HP:0010553Oculogyric crisis1ATXN3 CL E G H4287276238ORPHA1657106607047
HP:0001332HP:0002268Paroxysmal dystonia1ATXN3 CL E G H4287276238ORPHA1657106607047
HP:0001332HP:0001304Torsion dystonia1ATXN3 CL E G H4287276238ORPHA1657106607047
HP:0001332HP:0002530Axial dystonia1ATXN3 CL E G H4287276241ORPHA1657106607047
HP:0001332HP:0004373Focal dystonia1ATXN3 CL E G H4287276241ORPHA1657106607047
HP:0001332HP:0007325Generalized dystonia1ATXN3 CL E G H4287276241ORPHA1657106607047
HP:0001332HP:0032005Hemidystonia1ATXN3 CL E G H4287276241ORPHA1657106607047
HP:0001332HP:0002451Limb dystonia1ATXN3 CL E G H4287276241ORPHA1657106607047
HP:0001332HP:0010553Oculogyric crisis1ATXN3 CL E G H4287276241ORPHA1657106607047
HP:0001332HP:0002268Paroxysmal dystonia1ATXN3 CL E G H4287276241ORPHA1657106607047
HP:0001332HP:0001304Torsion dystonia1ATXN3 CL E G H4287276241ORPHA1657106607047
HP:0001332HP:0002530Axial dystonia1ATXN3 CL E G H4287276244ORPHA1657106607047
HP:0001332HP:0004373Focal dystonia1ATXN3 CL E G H4287276244ORPHA1657106607047
HP:0001332HP:0007325Generalized dystonia1ATXN3 CL E G H4287276244ORPHA1657106607047
HP:0001332HP:0032005Hemidystonia1ATXN3 CL E G H4287276244ORPHA1657106607047
HP:0001332HP:0002451Limb dystonia1ATXN3 CL E G H4287276244ORPHA1657106607047
HP:0001332HP:0010553Oculogyric crisis1ATXN3 CL E G H4287276244ORPHA1657106607047
HP:0001332HP:0002268Paroxysmal dystonia1ATXN3 CL E G H4287276244ORPHA1657106607047
HP:0001332HP:0001304Torsion dystonia1ATXN3 CL E G H4287276244ORPHA1657106607047
HP:0001332HP:0002530Axial dystonia1ATXN8 CL E G H72406698760ORPHA1232925613289
HP:0001332HP:0004373Focal dystonia1ATXN8 CL E G H72406698760ORPHA1232925613289
HP:0001332HP:0007325Generalized dystonia1ATXN8 CL E G H72406698760ORPHA1232925613289
HP:0001332HP:0032005Hemidystonia1ATXN8 CL E G H72406698760ORPHA1232925613289
HP:0001332HP:0002451Limb dystonia1ATXN8 CL E G H72406698760ORPHA1232925613289
HP:0001332HP:0010553Oculogyric crisis1ATXN8 CL E G H72406698760ORPHA1232925613289
HP:0001332HP:0002268Paroxysmal dystonia1ATXN8 CL E G H72406698760ORPHA1232925613289
HP:0001332HP:0001304Torsion dystonia1ATXN8 CL E G H72406698760ORPHA1232925613289
HP:0001332HP:0002530Axial dystonia1ATXN8OS CL E G H631598760ORPHA18710561603680
HP:0001332HP:0004373Focal dystonia1ATXN8OS CL E G H631598760ORPHA18710561603680
HP:0001332HP:0007325Generalized dystonia1ATXN8OS CL E G H631598760ORPHA18710561603680
HP:0001332HP:0032005Hemidystonia1ATXN8OS CL E G H631598760ORPHA18710561603680
HP:0001332HP:0002451Limb dystonia1ATXN8OS CL E G H631598760ORPHA18710561603680
HP:0001332HP:0010553Oculogyric crisis1ATXN8OS CL E G H631598760ORPHA18710561603680
HP:0001332HP:0002268Paroxysmal dystonia1ATXN8OS CL E G H631598760ORPHA18710561603680
HP:0001332HP:0001304Torsion dystonia1ATXN8OS CL E G H631598760ORPHA18710561603680
HP:0001332HP:0002530Axial dystonia1AUH CL E G H5492509503-Methylglutaconic aciduria type 1250950C0342727OMIM1249890600529
HP:0001332HP:0004373Focal dystonia1AUH CL E G H5492509503-Methylglutaconic aciduria type 1250950C0342727OMIM1249890600529
HP:0001332HP:0007325Generalized dystonia1AUH CL E G H5492509503-Methylglutaconic aciduria type 1250950C0342727OMIM1249890600529
HP:0001332HP:0032005Hemidystonia1AUH CL E G H5492509503-Methylglutaconic aciduria type 1250950C0342727OMIM1249890600529
HP:0001332HP:0002451Limb dystonia1AUH CL E G H5492509503-Methylglutaconic aciduria type 1250950C0342727OMIM1249890600529
HP:0001332HP:0010553Oculogyric crisis1AUH CL E G H5492509503-Methylglutaconic aciduria type 1250950C0342727OMIM1249890600529
HP:0001332HP:0002268Paroxysmal dystonia1AUH CL E G H5492509503-Methylglutaconic aciduria type 1250950C0342727OMIM1249890600529
HP:0001332HP:0001304Torsion dystonia1AUH CL E G H5492509503-Methylglutaconic aciduria type 1250950C0342727OMIM1249890600529
HP:0001332HP:0002530Axial dystonia1B4GALNT1 CL E G H2583609195Spastic paraplegia 26609195C1836632OMIM12954117601873
HP:0001332HP:0004373Focal dystonia1B4GALNT1 CL E G H2583609195Spastic paraplegia 26609195C1836632OMIM12954117601873
HP:0001332HP:0007325Generalized dystonia1B4GALNT1 CL E G H2583609195Spastic paraplegia 26609195C1836632OMIM12954117601873
HP:0001332HP:0032005Hemidystonia1B4GALNT1 CL E G H2583609195Spastic paraplegia 26609195C1836632OMIM12954117601873
HP:0001332HP:0002451Limb dystonia1B4GALNT1 CL E G H2583609195Spastic paraplegia 26609195C1836632OMIM12954117601873
HP:0001332HP:0010553Oculogyric crisis1B4GALNT1 CL E G H2583609195Spastic paraplegia 26609195C1836632OMIM12954117601873
HP:0001332HP:0002268Paroxysmal dystonia1B4GALNT1 CL E G H2583609195Spastic paraplegia 26609195C1836632OMIM12954117601873
HP:0001332HP:0001304Torsion dystonia1B4GALNT1 CL E G H2583609195Spastic paraplegia 26609195C1836632OMIM12954117601873
HP:0001332HP:0002530Axial dystonia1BCAP31 CL E G H10134300475Chromosome Xq28 deletion syndrome300475C1845408OMIM137516695300398
HP:0001332HP:0004373Focal dystonia1BCAP31 CL E G H10134300475Chromosome Xq28 deletion syndrome300475C1845408OMIM137516695300398
HP:0001332HP:0007325Generalized dystonia1BCAP31 CL E G H10134300475Chromosome Xq28 deletion syndrome300475C1845408OMIM137516695300398
HP:0001332HP:0032005Hemidystonia1BCAP31 CL E G H10134300475Chromosome Xq28 deletion syndrome300475C1845408OMIM137516695300398
HP:0001332HP:0002451Limb dystonia1BCAP31 CL E G H10134300475Chromosome Xq28 deletion syndrome300475C1845408OMIM137516695300398
HP:0001332HP:0010553Oculogyric crisis1BCAP31 CL E G H10134300475Chromosome Xq28 deletion syndrome300475C1845408OMIM137516695300398
HP:0001332HP:0002268Paroxysmal dystonia1BCAP31 CL E G H10134300475Chromosome Xq28 deletion syndrome300475C1845408OMIM137516695300398
HP:0001332HP:0001304Torsion dystonia1BCAP31 CL E G H10134300475Chromosome Xq28 deletion syndrome300475C1845408OMIM137516695300398
HP:0001332HP:0002530Axial dystonia1BCS1L CL E G H617256000Leigh syndrome256000C0023264OMIM14131020603647
HP:0001332HP:0004373Focal dystonia1BCS1L CL E G H617256000Leigh syndrome256000C0023264OMIM14131020603647
HP:0001332HP:0007325Generalized dystonia1BCS1L CL E G H617256000Leigh syndrome256000C0023264OMIM14131020603647
HP:0001332HP:0032005Hemidystonia1BCS1L CL E G H617256000Leigh syndrome256000C0023264OMIM14131020603647
HP:0001332HP:0002451Limb dystonia1BCS1L CL E G H617256000Leigh syndrome256000C0023264OMIM14131020603647
HP:0001332HP:0010553Oculogyric crisis1BCS1L CL E G H617256000Leigh syndrome256000C0023264OMIM14131020603647
HP:0001332HP:0002268Paroxysmal dystonia1BCS1L CL E G H617256000Leigh syndrome256000C0023264OMIM14131020603647
HP:0001332HP:0001304Torsion dystonia1BCS1L CL E G H617256000Leigh syndrome256000C0023264OMIM14131020603647
HP:0001332HP:0002530Axial dystonia1BSCL2 CL E G H26580615924Encephalopathy, progressive, with or without lipodystrophy615924C4014700OMIM151015832606158
HP:0001332HP:0004373Focal dystonia1BSCL2 CL E G H26580615924Encephalopathy, progressive, with or without lipodystrophy615924C4014700OMIM151015832606158
HP:0001332HP:0007325Generalized dystonia1BSCL2 CL E G H26580615924Encephalopathy, progressive, with or without lipodystrophy615924C4014700OMIM151015832606158
HP:0001332HP:0032005Hemidystonia1BSCL2 CL E G H26580615924Encephalopathy, progressive, with or without lipodystrophy615924C4014700OMIM151015832606158
HP:0001332HP:0002451Limb dystonia1BSCL2 CL E G H26580615924Encephalopathy, progressive, with or without lipodystrophy615924C4014700OMIM151015832606158
HP:0001332HP:0010553Oculogyric crisis1BSCL2 CL E G H26580615924Encephalopathy, progressive, with or without lipodystrophy615924C4014700OMIM151015832606158
HP:0001332HP:0002268Paroxysmal dystonia1BSCL2 CL E G H26580615924Encephalopathy, progressive, with or without lipodystrophy615924C4014700OMIM151015832606158
HP:0001332HP:0001304Torsion dystonia1BSCL2 CL E G H26580615924Encephalopathy, progressive, with or without lipodystrophy615924C4014700OMIM151015832606158
HP:0001332HP:0002530Axial dystonia1C19orf12 CL E G H83636289560ORPHA130725443614297
HP:0001332HP:0004373Focal dystonia1C19orf12 CL E G H83636289560ORPHA130725443614297
HP:0001332HP:0007325Generalized dystonia1C19orf12 CL E G H83636289560ORPHA130725443614297
HP:0001332HP:0032005Hemidystonia1C19orf12 CL E G H83636289560ORPHA130725443614297
HP:0001332HP:0002451Limb dystonia1C19orf12 CL E G H83636289560ORPHA130725443614297
HP:0001332HP:0010553Oculogyric crisis1C19orf12 CL E G H83636289560ORPHA130725443614297
HP:0001332HP:0002268Paroxysmal dystonia1C19orf12 CL E G H83636289560ORPHA130725443614297
HP:0001332HP:0001304Torsion dystonia1C19orf12 CL E G H83636289560ORPHA130725443614297
HP:0001332HP:0002530Axial dystonia1CACNA1A CL E G H773108500Episodic ataxia type 2108500C1720416OMIM132481388601011
HP:0001332HP:0004373Focal dystonia1CACNA1A CL E G H773108500Episodic ataxia type 2108500C1720416OMIM132481388601011
HP:0001332HP:0007325Generalized dystonia1CACNA1A CL E G H773108500Episodic ataxia type 2108500C1720416OMIM132481388601011
HP:0001332HP:0032005Hemidystonia1CACNA1A CL E G H773108500Episodic ataxia type 2108500C1720416OMIM132481388601011
HP:0001332HP:0002451Limb dystonia1CACNA1A CL E G H773108500Episodic ataxia type 2108500C1720416OMIM132481388601011
HP:0001332HP:0010553Oculogyric crisis1CACNA1A CL E G H773108500Episodic ataxia type 2108500C1720416OMIM132481388601011
HP:0001332HP:0002268Paroxysmal dystonia1CACNA1A CL E G H773108500Episodic ataxia type 2108500C1720416OMIM132481388601011
HP:0001332HP:0001304Torsion dystonia1CACNA1A CL E G H773108500Episodic ataxia type 2108500C1720416OMIM132481388601011
HP:0001332HP:0002530Axial dystonia1CACNA1E CL E G H777618285618285618285OMIM115831392601013
HP:0001332HP:0004373Focal dystonia1CACNA1E CL E G H777618285618285618285OMIM115831392601013
HP:0001332HP:0007325Generalized dystonia1CACNA1E CL E G H777618285618285618285OMIM115831392601013
HP:0001332HP:0032005Hemidystonia1CACNA1E CL E G H777618285618285618285OMIM115831392601013
HP:0001332HP:0002451Limb dystonia1CACNA1E CL E G H777618285618285618285OMIM115831392601013
HP:0001332HP:0010553Oculogyric crisis1CACNA1E CL E G H777618285618285618285OMIM115831392601013
HP:0001332HP:0002268Paroxysmal dystonia1CACNA1E CL E G H777618285618285618285OMIM115831392601013
HP:0001332HP:0001304Torsion dystonia1CACNA1E CL E G H777618285618285618285OMIM115831392601013
HP:0001332HP:0002530Axial dystonia1CACNA1G CL E G H8913618087SPINOCEREBELLAR ATAXIA 42, EARLY-ONSET, SEVERE, WITH NEURODEVELOPMENTAL DEFICITS618087CN252698OMIM18221394604065
HP:0001332HP:0004373Focal dystonia1CACNA1G CL E G H8913618087SPINOCEREBELLAR ATAXIA 42, EARLY-ONSET, SEVERE, WITH NEURODEVELOPMENTAL DEFICITS618087CN252698OMIM18221394604065
HP:0001332HP:0007325Generalized dystonia1CACNA1G CL E G H8913618087SPINOCEREBELLAR ATAXIA 42, EARLY-ONSET, SEVERE, WITH NEURODEVELOPMENTAL DEFICITS618087CN252698OMIM18221394604065
HP:0001332HP:0032005Hemidystonia1CACNA1G CL E G H8913618087SPINOCEREBELLAR ATAXIA 42, EARLY-ONSET, SEVERE, WITH NEURODEVELOPMENTAL DEFICITS618087CN252698OMIM18221394604065
HP:0001332HP:0002451Limb dystonia1CACNA1G CL E G H8913618087SPINOCEREBELLAR ATAXIA 42, EARLY-ONSET, SEVERE, WITH NEURODEVELOPMENTAL DEFICITS618087CN252698OMIM18221394604065
HP:0001332HP:0010553Oculogyric crisis1CACNA1G CL E G H8913618087SPINOCEREBELLAR ATAXIA 42, EARLY-ONSET, SEVERE, WITH NEURODEVELOPMENTAL DEFICITS618087CN252698OMIM18221394604065
HP:0001332HP:0002268Paroxysmal dystonia1CACNA1G CL E G H8913618087SPINOCEREBELLAR ATAXIA 42, EARLY-ONSET, SEVERE, WITH NEURODEVELOPMENTAL DEFICITS618087CN252698OMIM18221394604065
HP:0001332HP:0001304Torsion dystonia1CACNA1G CL E G H8913618087SPINOCEREBELLAR ATAXIA 42, EARLY-ONSET, SEVERE, WITH NEURODEVELOPMENTAL DEFICITS618087CN252698OMIM18221394604065
HP:0001332HP:0002530Axial dystonia1CARS2 CL E G H79587616672Combined oxidative phosphorylation deficiency 27616672C4225251OMIM182525695612800
HP:0001332HP:0004373Focal dystonia1CARS2 CL E G H79587616672Combined oxidative phosphorylation deficiency 27616672C4225251OMIM182525695612800
HP:0001332HP:0007325Generalized dystonia1CARS2 CL E G H79587616672Combined oxidative phosphorylation deficiency 27616672C4225251OMIM182525695612800
HP:0001332HP:0032005Hemidystonia1CARS2 CL E G H79587616672Combined oxidative phosphorylation deficiency 27616672C4225251OMIM182525695612800
HP:0001332HP:0002451Limb dystonia1CARS2 CL E G H79587616672Combined oxidative phosphorylation deficiency 27616672C4225251OMIM182525695612800
HP:0001332HP:0010553Oculogyric crisis1CARS2 CL E G H79587616672Combined oxidative phosphorylation deficiency 27616672C4225251OMIM182525695612800
HP:0001332HP:0002268Paroxysmal dystonia1CARS2 CL E G H79587616672Combined oxidative phosphorylation deficiency 27616672C4225251OMIM182525695612800
HP:0001332HP:0001304Torsion dystonia1CARS2 CL E G H79587616672Combined oxidative phosphorylation deficiency 27616672C4225251OMIM182525695612800
HP:0001332HP:0002530Axial dystonia1CHMP2B CL E G H25978600795Frontotemporal Dementia, Chromosome 3-Linked600795C1833296OMIM116024537609512
HP:0001332HP:0004373Focal dystonia1CHMP2B CL E G H25978600795Frontotemporal Dementia, Chromosome 3-Linked600795C1833296OMIM116024537609512
HP:0001332HP:0007325Generalized dystonia1CHMP2B CL E G H25978600795Frontotemporal Dementia, Chromosome 3-Linked600795C1833296OMIM116024537609512
HP:0001332HP:0032005Hemidystonia1CHMP2B CL E G H25978600795Frontotemporal Dementia, Chromosome 3-Linked600795C1833296OMIM116024537609512
HP:0001332HP:0002451Limb dystonia1CHMP2B CL E G H25978600795Frontotemporal Dementia, Chromosome 3-Linked600795C1833296OMIM116024537609512
HP:0001332HP:0010553Oculogyric crisis1CHMP2B CL E G H25978600795Frontotemporal Dementia, Chromosome 3-Linked600795C1833296OMIM116024537609512
HP:0001332HP:0002268Paroxysmal dystonia1CHMP2B CL E G H25978600795Frontotemporal Dementia, Chromosome 3-Linked600795C1833296OMIM116024537609512
HP:0001332HP:0001304Torsion dystonia1CHMP2B CL E G H25978600795Frontotemporal Dementia, Chromosome 3-Linked600795C1833296OMIM116024537609512
HP:0001332HP:0002530Axial dystonia1CHRNA2 CL E G H1135610353Epilepsy, nocturnal frontal lobe, type 4610353C1835905OMIM17321956118502
HP:0001332HP:0004373Focal dystonia1CHRNA2 CL E G H1135610353Epilepsy, nocturnal frontal lobe, type 4610353C1835905OMIM17321956118502
HP:0001332HP:0007325Generalized dystonia1CHRNA2 CL E G H1135610353Epilepsy, nocturnal frontal lobe, type 4610353C1835905OMIM17321956118502
HP:0001332HP:0032005Hemidystonia1CHRNA2 CL E G H1135610353Epilepsy, nocturnal frontal lobe, type 4610353C1835905OMIM17321956118502
HP:0001332HP:0002451Limb dystonia1CHRNA2 CL E G H1135610353Epilepsy, nocturnal frontal lobe, type 4610353C1835905OMIM17321956118502
HP:0001332HP:0010553Oculogyric crisis1CHRNA2 CL E G H1135610353Epilepsy, nocturnal frontal lobe, type 4610353C1835905OMIM17321956118502
HP:0001332HP:0002268Paroxysmal dystonia1CHRNA2 CL E G H1135610353Epilepsy, nocturnal frontal lobe, type 4610353C1835905OMIM17321956118502
HP:0001332HP:0001304Torsion dystonia1CHRNA2 CL E G H1135610353Epilepsy, nocturnal frontal lobe, type 4610353C1835905OMIM17321956118502
HP:0001332HP:0002530Axial dystonia1CKAP2L CL E G H150468272440Filippi syndrome272440C0795940OMIM116826877616174
HP:0001332HP:0004373Focal dystonia1CKAP2L CL E G H150468272440Filippi syndrome272440C0795940OMIM116826877616174
HP:0001332HP:0007325Generalized dystonia1CKAP2L CL E G H150468272440Filippi syndrome272440C0795940OMIM116826877616174
HP:0001332HP:0032005Hemidystonia1CKAP2L CL E G H150468272440Filippi syndrome272440C0795940OMIM116826877616174
HP:0001332HP:0002451Limb dystonia1CKAP2L CL E G H150468272440Filippi syndrome272440C0795940OMIM116826877616174
HP:0001332HP:0010553Oculogyric crisis1CKAP2L CL E G H150468272440Filippi syndrome272440C0795940OMIM116826877616174
HP:0001332HP:0002268Paroxysmal dystonia1CKAP2L CL E G H150468272440Filippi syndrome272440C0795940OMIM116826877616174
HP:0001332HP:0001304Torsion dystonia1CKAP2L CL E G H150468272440Filippi syndrome272440C0795940OMIM116826877616174
HP:0001332HP:0002530Axial dystonia1CNTNAP1 CL E G H8506618186Congenital hypomyelinating neuropathy 3618186OMIM14258011602346
HP:0001332HP:0004373Focal dystonia1CNTNAP1 CL E G H8506618186Congenital hypomyelinating neuropathy 3618186OMIM14258011602346
HP:0001332HP:0007325Generalized dystonia1CNTNAP1 CL E G H8506618186Congenital hypomyelinating neuropathy 3618186OMIM14258011602346
HP:0001332HP:0032005Hemidystonia1CNTNAP1 CL E G H8506618186Congenital hypomyelinating neuropathy 3618186OMIM14258011602346
HP:0001332HP:0002451Limb dystonia1CNTNAP1 CL E G H8506618186Congenital hypomyelinating neuropathy 3618186OMIM14258011602346
HP:0001332HP:0010553Oculogyric crisis1CNTNAP1 CL E G H8506618186Congenital hypomyelinating neuropathy 3618186OMIM14258011602346
HP:0001332HP:0002268Paroxysmal dystonia1CNTNAP1 CL E G H8506618186Congenital hypomyelinating neuropathy 3618186OMIM14258011602346
HP:0001332HP:0001304Torsion dystonia1CNTNAP1 CL E G H8506618186Congenital hypomyelinating neuropathy 3618186OMIM14258011602346
HP:0001332HP:0002530Axial dystonia1COQ9 CL E G H57017614654Coenzyme Q10 deficiency, primary, 5614654C3553374OMIM127625302612837
HP:0001332HP:0004373Focal dystonia1COQ9 CL E G H57017614654Coenzyme Q10 deficiency, primary, 5614654C3553374OMIM127625302612837
HP:0001332HP:0007325Generalized dystonia1COQ9 CL E G H57017614654Coenzyme Q10 deficiency, primary, 5614654C3553374OMIM127625302612837
HP:0001332HP:0032005Hemidystonia1COQ9 CL E G H57017614654Coenzyme Q10 deficiency, primary, 5614654C3553374OMIM127625302612837
HP:0001332HP:0002451Limb dystonia1COQ9 CL E G H57017614654Coenzyme Q10 deficiency, primary, 5614654C3553374OMIM127625302612837
HP:0001332HP:0010553Oculogyric crisis1COQ9 CL E G H57017614654Coenzyme Q10 deficiency, primary, 5614654C3553374OMIM127625302612837
HP:0001332HP:0002268Paroxysmal dystonia1COQ9 CL E G H57017614654Coenzyme Q10 deficiency, primary, 5614654C3553374OMIM127625302612837
HP:0001332HP:0001304Torsion dystonia1COQ9 CL E G H57017614654Coenzyme Q10 deficiency, primary, 5614654C3553374OMIM127625302612837
HP:0001332HP:0002530Axial dystonia1COX10 CL E G H1352256000Leigh syndrome256000C0023264OMIM13562260602125
HP:0001332HP:0004373Focal dystonia1COX10 CL E G H1352256000Leigh syndrome256000C0023264OMIM13562260602125
HP:0001332HP:0007325Generalized dystonia1COX10 CL E G H1352256000Leigh syndrome256000C0023264OMIM13562260602125
HP:0001332HP:0032005Hemidystonia1COX10 CL E G H1352256000Leigh syndrome256000C0023264OMIM13562260602125
HP:0001332HP:0002451Limb dystonia1COX10 CL E G H1352256000Leigh syndrome256000C0023264OMIM13562260602125
HP:0001332HP:0010553Oculogyric crisis1COX10 CL E G H1352256000Leigh syndrome256000C0023264OMIM13562260602125
HP:0001332HP:0002268Paroxysmal dystonia1COX10 CL E G H1352256000Leigh syndrome256000C0023264OMIM13562260602125
HP:0001332HP:0001304Torsion dystonia1COX10 CL E G H1352256000Leigh syndrome256000C0023264OMIM13562260602125
HP:0001332HP:0002530Axial dystonia1COX15 CL E G H1355255241ORPHA13572263603646
HP:0001332HP:0004373Focal dystonia1COX15 CL E G H1355255241ORPHA13572263603646
HP:0001332HP:0007325Generalized dystonia1COX15 CL E G H1355255241ORPHA13572263603646
HP:0001332HP:0032005Hemidystonia1COX15 CL E G H1355255241ORPHA13572263603646
HP:0001332HP:0002451Limb dystonia1COX15 CL E G H1355255241ORPHA13572263603646
HP:0001332HP:0010553Oculogyric crisis1COX15 CL E G H1355255241ORPHA13572263603646
HP:0001332HP:0002268Paroxysmal dystonia1COX15 CL E G H1355255241ORPHA13572263603646
HP:0001332HP:0001304Torsion dystonia1COX15 CL E G H1355255241ORPHA13572263603646
HP:0001332HP:0002530Axial dystonia1COX15 CL E G H1355256000Leigh syndrome256000C0023264OMIM13572263603646
HP:0001332HP:0004373Focal dystonia1COX15 CL E G H1355256000Leigh syndrome256000C0023264OMIM13572263603646
HP:0001332HP:0007325Generalized dystonia1COX15 CL E G H1355256000Leigh syndrome256000C0023264OMIM13572263603646
HP:0001332HP:0032005Hemidystonia1COX15 CL E G H1355256000Leigh syndrome256000C0023264OMIM13572263603646
HP:0001332HP:0002451Limb dystonia1COX15 CL E G H1355256000Leigh syndrome256000C0023264OMIM13572263603646
HP:0001332HP:0010553Oculogyric crisis1COX15 CL E G H1355256000Leigh syndrome256000C0023264OMIM13572263603646
HP:0001332HP:0002268Paroxysmal dystonia1COX15 CL E G H1355256000Leigh syndrome256000C0023264OMIM13572263603646
HP:0001332HP:0001304Torsion dystonia1COX15 CL E G H1355256000Leigh syndrome256000C0023264OMIM13572263603646
HP:0001332HP:0002530Axial dystonia1CTC1 CL E G H80169612199Cerebroretinal microangiopathy with calcifications and cysts 1612199C2677299OMIM1129226169613129
HP:0001332HP:0004373Focal dystonia1CTC1 CL E G H80169612199Cerebroretinal microangiopathy with calcifications and cysts 1612199C2677299OMIM1129226169613129
HP:0001332HP:0007325Generalized dystonia1CTC1 CL E G H80169612199Cerebroretinal microangiopathy with calcifications and cysts 1612199C2677299OMIM1129226169613129
HP:0001332HP:0032005Hemidystonia1CTC1 CL E G H80169612199Cerebroretinal microangiopathy with calcifications and cysts 1612199C2677299OMIM1129226169613129
HP:0001332HP:0002451Limb dystonia1CTC1 CL E G H80169612199Cerebroretinal microangiopathy with calcifications and cysts 1612199C2677299OMIM1129226169613129
HP:0001332HP:0010553Oculogyric crisis1CTC1 CL E G H80169612199Cerebroretinal microangiopathy with calcifications and cysts 1612199C2677299OMIM1129226169613129
HP:0001332HP:0002268Paroxysmal dystonia1CTC1 CL E G H80169612199Cerebroretinal microangiopathy with calcifications and cysts 1612199C2677299OMIM1129226169613129
HP:0001332HP:0001304Torsion dystonia1CTC1 CL E G H80169612199Cerebroretinal microangiopathy with calcifications and cysts 1612199C2677299OMIM1129226169613129
HP:0001332HP:0002530Axial dystonia1CWF19L1 CL E G H55280453521ORPHA110025613616120
HP:0001332HP:0004373Focal dystonia1CWF19L1 CL E G H55280453521ORPHA110025613616120
HP:0001332HP:0007325Generalized dystonia1CWF19L1 CL E G H55280453521ORPHA110025613616120
HP:0001332HP:0032005Hemidystonia1CWF19L1 CL E G H55280453521ORPHA110025613616120
HP:0001332HP:0002451Limb dystonia1CWF19L1 CL E G H55280453521ORPHA110025613616120
HP:0001332HP:0010553Oculogyric crisis1CWF19L1 CL E G H55280453521ORPHA110025613616120
HP:0001332HP:0002268Paroxysmal dystonia1CWF19L1 CL E G H55280453521ORPHA110025613616120
HP:0001332HP:0001304Torsion dystonia1CWF19L1 CL E G H55280453521ORPHA110025613616120
HP:0001332HP:0002530Axial dystonia1CYP27A1 CL E G H1593909ORPHA19402605606530
HP:0001332HP:0004373Focal dystonia1CYP27A1 CL E G H1593909ORPHA19402605606530
HP:0001332HP:0007325Generalized dystonia1CYP27A1 CL E G H1593909ORPHA19402605606530
HP:0001332HP:0032005Hemidystonia1CYP27A1 CL E G H1593909ORPHA19402605606530
HP:0001332HP:0002451Limb dystonia1CYP27A1 CL E G H1593909ORPHA19402605606530
HP:0001332HP:0010553Oculogyric crisis1CYP27A1 CL E G H1593909ORPHA19402605606530
HP:0001332HP:0002268Paroxysmal dystonia1CYP27A1 CL E G H1593909ORPHA19402605606530
HP:0001332HP:0001304Torsion dystonia1CYP27A1 CL E G H1593909ORPHA19402605606530
HP:0001332HP:0002530Axial dystonia1DCAF17 CL E G H800673464ORPHA136625784612515
HP:0001332HP:0004373Focal dystonia1DCAF17 CL E G H800673464ORPHA136625784612515
HP:0001332HP:0007325Generalized dystonia1DCAF17 CL E G H800673464ORPHA136625784612515
HP:0001332HP:0032005Hemidystonia1DCAF17 CL E G H800673464ORPHA136625784612515
HP:0001332HP:0002451Limb dystonia1DCAF17 CL E G H800673464ORPHA136625784612515
HP:0001332HP:0010553Oculogyric crisis1DCAF17 CL E G H800673464ORPHA136625784612515
HP:0001332HP:0002268Paroxysmal dystonia1DCAF17 CL E G H800673464ORPHA136625784612515
HP:0001332HP:0001304Torsion dystonia1DCAF17 CL E G H800673464ORPHA136625784612515
HP:0001332HP:0002530Axial dystonia1DCAF17 CL E G H80067241080Hypogonadism, diabetes mellitus, alopecia, mental retardation and electrocardiographic abnormalities241080C0342286OMIM136625784612515
HP:0001332HP:0004373Focal dystonia1DCAF17 CL E G H80067241080Hypogonadism, diabetes mellitus, alopecia, mental retardation and electrocardiographic abnormalities241080C0342286OMIM136625784612515
HP:0001332HP:0007325Generalized dystonia1DCAF17 CL E G H80067241080Hypogonadism, diabetes mellitus, alopecia, mental retardation and electrocardiographic abnormalities241080C0342286OMIM136625784612515
HP:0001332HP:0032005Hemidystonia1DCAF17 CL E G H80067241080Hypogonadism, diabetes mellitus, alopecia, mental retardation and electrocardiographic abnormalities241080C0342286OMIM136625784612515
HP:0001332HP:0002451Limb dystonia1DCAF17 CL E G H80067241080Hypogonadism, diabetes mellitus, alopecia, mental retardation and electrocardiographic abnormalities241080C0342286OMIM136625784612515
HP:0001332HP:0010553Oculogyric crisis1DCAF17 CL E G H80067241080Hypogonadism, diabetes mellitus, alopecia, mental retardation and electrocardiographic abnormalities241080C0342286OMIM136625784612515
HP:0001332HP:0002268Paroxysmal dystonia1DCAF17 CL E G H80067241080Hypogonadism, diabetes mellitus, alopecia, mental retardation and electrocardiographic abnormalities241080C0342286OMIM136625784612515
HP:0001332HP:0001304Torsion dystonia1DCAF17 CL E G H80067241080Hypogonadism, diabetes mellitus, alopecia, mental retardation and electrocardiographic abnormalities241080C0342286OMIM136625784612515
HP:0001332HP:0002530Axial dystonia1DHDDS CL E G H79947617836DEVELOPMENTAL DELAY AND SEIZURES WITH OR WITHOUT MOVEMENT ABNORMALITIES617836CN769090OMIM143420603608172
HP:0001332HP:0004373Focal dystonia1DHDDS CL E G H79947617836DEVELOPMENTAL DELAY AND SEIZURES WITH OR WITHOUT MOVEMENT ABNORMALITIES617836CN769090OMIM143420603608172
HP:0001332HP:0007325Generalized dystonia1DHDDS CL E G H79947617836DEVELOPMENTAL DELAY AND SEIZURES WITH OR WITHOUT MOVEMENT ABNORMALITIES617836CN769090OMIM143420603608172
HP:0001332HP:0032005Hemidystonia1DHDDS CL E G H79947617836DEVELOPMENTAL DELAY AND SEIZURES WITH OR WITHOUT MOVEMENT ABNORMALITIES617836CN769090OMIM143420603608172
HP:0001332HP:0002451Limb dystonia1DHDDS CL E G H79947617836DEVELOPMENTAL DELAY AND SEIZURES WITH OR WITHOUT MOVEMENT ABNORMALITIES617836CN769090OMIM143420603608172
HP:0001332HP:0010553Oculogyric crisis1DHDDS CL E G H79947617836DEVELOPMENTAL DELAY AND SEIZURES WITH OR WITHOUT MOVEMENT ABNORMALITIES617836CN769090OMIM143420603608172
HP:0001332HP:0002268Paroxysmal dystonia1DHDDS CL E G H79947617836DEVELOPMENTAL DELAY AND SEIZURES WITH OR WITHOUT MOVEMENT ABNORMALITIES617836CN769090OMIM143420603608172
HP:0001332HP:0001304Torsion dystonia1DHDDS CL E G H79947617836DEVELOPMENTAL DELAY AND SEIZURES WITH OR WITHOUT MOVEMENT ABNORMALITIES617836CN769090OMIM143420603608172
HP:0001332HP:0002530Axial dystonia1DHX30 CL E G H22907617804NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT AND ABSENT LANGUAGE617804C4540496OMIM116216716616423
HP:0001332HP:0004373Focal dystonia1DHX30 CL E G H22907617804NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT AND ABSENT LANGUAGE617804C4540496OMIM116216716616423
HP:0001332HP:0007325Generalized dystonia1DHX30 CL E G H22907617804NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT AND ABSENT LANGUAGE617804C4540496OMIM116216716616423
HP:0001332HP:0032005Hemidystonia1DHX30 CL E G H22907617804NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT AND ABSENT LANGUAGE617804C4540496OMIM116216716616423
HP:0001332HP:0002451Limb dystonia1DHX30 CL E G H22907617804NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT AND ABSENT LANGUAGE617804C4540496OMIM116216716616423
HP:0001332HP:0010553Oculogyric crisis1DHX30 CL E G H22907617804NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT AND ABSENT LANGUAGE617804C4540496OMIM116216716616423
HP:0001332HP:0002268Paroxysmal dystonia1DHX30 CL E G H22907617804NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT AND ABSENT LANGUAGE617804C4540496OMIM116216716616423
HP:0001332HP:0001304Torsion dystonia1DHX30 CL E G H22907617804NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT AND ABSENT LANGUAGE617804C4540496OMIM116216716616423
HP:0001332HP:0002530Axial dystonia1DLD CL E G H1738246900Maple syrup urine disease, type 3246900CN043137OMIM15202898238331
HP:0001332HP:0004373Focal dystonia1DLD CL E G H1738246900Maple syrup urine disease, type 3246900CN043137OMIM15202898238331
HP:0001332HP:0007325Generalized dystonia1DLD CL E G H1738246900Maple syrup urine disease, type 3246900CN043137OMIM15202898238331
HP:0001332HP:0032005Hemidystonia1DLD CL E G H1738246900Maple syrup urine disease, type 3246900CN043137OMIM15202898238331
HP:0001332HP:0002451Limb dystonia1DLD CL E G H1738246900Maple syrup urine disease, type 3246900CN043137OMIM15202898238331
HP:0001332HP:0010553Oculogyric crisis1DLD CL E G H1738246900Maple syrup urine disease, type 3246900CN043137OMIM15202898238331
HP:0001332HP:0002268Paroxysmal dystonia1DLD CL E G H1738246900Maple syrup urine disease, type 3246900CN043137OMIM15202898238331
HP:0001332HP:0001304Torsion dystonia1DLD CL E G H1738246900Maple syrup urine disease, type 3246900CN043137OMIM15202898238331
HP:0001332HP:0002530Axial dystonia1DMXL2 CL E G H23312616113Polyendocrine-polyneuropathy syndrome616113C4015261OMIM112162938612186
HP:0001332HP:0004373Focal dystonia1DMXL2 CL E G H23312616113Polyendocrine-polyneuropathy syndrome616113C4015261OMIM112162938612186
HP:0001332HP:0007325Generalized dystonia1DMXL2 CL E G H23312616113Polyendocrine-polyneuropathy syndrome616113C4015261OMIM112162938612186
HP:0001332HP:0032005Hemidystonia1DMXL2 CL E G H23312616113Polyendocrine-polyneuropathy syndrome616113C4015261OMIM112162938612186
HP:0001332HP:0002451Limb dystonia1DMXL2 CL E G H23312616113Polyendocrine-polyneuropathy syndrome616113C4015261OMIM112162938612186
HP:0001332HP:0010553Oculogyric crisis1DMXL2 CL E G H23312616113Polyendocrine-polyneuropathy syndrome616113C4015261OMIM112162938612186
HP:0001332HP:0002268Paroxysmal dystonia1DMXL2 CL E G H23312616113Polyendocrine-polyneuropathy syndrome616113C4015261OMIM112162938612186
HP:0001332HP:0001304Torsion dystonia1DMXL2 CL E G H23312616113Polyendocrine-polyneuropathy syndrome616113C4015261OMIM112162938612186
HP:0001332HP:0002530Axial dystonia1DNAJC6 CL E G H9829391411ORPHA131015469608375
HP:0001332HP:0004373Focal dystonia1DNAJC6 CL E G H9829391411ORPHA131015469608375
HP:0001332HP:0007325Generalized dystonia1DNAJC6 CL E G H9829391411ORPHA131015469608375
HP:0001332HP:0032005Hemidystonia1DNAJC6 CL E G H9829391411ORPHA131015469608375
HP:0001332HP:0002451Limb dystonia1DNAJC6 CL E G H9829391411ORPHA131015469608375
HP:0001332HP:0010553Oculogyric crisis1DNAJC6 CL E G H9829391411ORPHA131015469608375
HP:0001332HP:0002268Paroxysmal dystonia1DNAJC6 CL E G H9829391411ORPHA131015469608375
HP:0001332HP:0001304Torsion dystonia1DNAJC6 CL E G H9829391411ORPHA131015469608375
HP:0001332HP:0002530Axial dystonia1EARS2 CL E G H124454614924Combined oxidative phosphorylation deficiency 12614924C3554079OMIM133629419612799
HP:0001332HP:0004373Focal dystonia1EARS2 CL E G H124454614924Combined oxidative phosphorylation deficiency 12614924C3554079OMIM133629419612799
HP:0001332HP:0007325Generalized dystonia1EARS2 CL E G H124454614924Combined oxidative phosphorylation deficiency 12614924C3554079OMIM133629419612799
HP:0001332HP:0032005Hemidystonia1EARS2 CL E G H124454614924Combined oxidative phosphorylation deficiency 12614924C3554079OMIM133629419612799
HP:0001332HP:0002451Limb dystonia1EARS2 CL E G H124454614924Combined oxidative phosphorylation deficiency 12614924C3554079OMIM133629419612799
HP:0001332HP:0010553Oculogyric crisis1EARS2 CL E G H124454614924Combined oxidative phosphorylation deficiency 12614924C3554079OMIM133629419612799
HP:0001332HP:0002268Paroxysmal dystonia1EARS2 CL E G H124454614924Combined oxidative phosphorylation deficiency 12614924C3554079OMIM133629419612799
HP:0001332HP:0001304Torsion dystonia1EARS2 CL E G H124454614924Combined oxidative phosphorylation deficiency 12614924C3554079OMIM133629419612799
HP:0001332HP:0002530Axial dystonia1ECHS1 CL E G H1892255241ORPHA14313151602292
HP:0001332HP:0004373Focal dystonia1ECHS1 CL E G H1892255241ORPHA14313151602292
HP:0001332HP:0007325Generalized dystonia1ECHS1 CL E G H1892255241ORPHA14313151602292
HP:0001332HP:0032005Hemidystonia1ECHS1 CL E G H1892255241ORPHA14313151602292
HP:0001332HP:0002451Limb dystonia1ECHS1 CL E G H1892255241ORPHA14313151602292
HP:0001332HP:0010553Oculogyric crisis1ECHS1 CL E G H1892255241ORPHA14313151602292
HP:0001332HP:0002268Paroxysmal dystonia1ECHS1 CL E G H1892255241ORPHA14313151602292
HP:0001332HP:0001304Torsion dystonia1ECHS1 CL E G H1892255241ORPHA14313151602292
HP:0001332HP:0002530Axial dystonia1ECHS1 CL E G H1892616277Mitochondrial short-chain enoyl-coa hydratase 1 deficiency616277C4225391OMIM14313151602292
HP:0001332HP:0004373Focal dystonia1ECHS1 CL E G H1892616277Mitochondrial short-chain enoyl-coa hydratase 1 deficiency616277C4225391OMIM14313151602292
HP:0001332HP:0007325Generalized dystonia1ECHS1 CL E G H1892616277Mitochondrial short-chain enoyl-coa hydratase 1 deficiency616277C4225391OMIM14313151602292
HP:0001332HP:0032005Hemidystonia1ECHS1 CL E G H1892616277Mitochondrial short-chain enoyl-coa hydratase 1 deficiency616277C4225391OMIM14313151602292
HP:0001332HP:0002451Limb dystonia1ECHS1 CL E G H1892616277Mitochondrial short-chain enoyl-coa hydratase 1 deficiency616277C4225391OMIM14313151602292
HP:0001332HP:0010553Oculogyric crisis1ECHS1 CL E G H1892616277Mitochondrial short-chain enoyl-coa hydratase 1 deficiency616277C4225391OMIM14313151602292
HP:0001332HP:0002268Paroxysmal dystonia1ECHS1 CL E G H1892616277Mitochondrial short-chain enoyl-coa hydratase 1 deficiency616277C4225391OMIM14313151602292
HP:0001332HP:0001304Torsion dystonia1ECHS1 CL E G H1892616277Mitochondrial short-chain enoyl-coa hydratase 1 deficiency616277C4225391OMIM14313151602292
HP:0001332HP:0002530Axial dystonia1ECM1 CL E G H1893530Acute myeloblastic leukemia type 5ORPHA11063153602201
HP:0001332HP:0004373Focal dystonia1ECM1 CL E G H1893530Acute myeloblastic leukemia type 5ORPHA11063153602201
HP:0001332HP:0007325Generalized dystonia1ECM1 CL E G H1893530Acute myeloblastic leukemia type 5ORPHA11063153602201
HP:0001332HP:0032005Hemidystonia1ECM1 CL E G H1893530Acute myeloblastic leukemia type 5ORPHA11063153602201
HP:0001332HP:0002451Limb dystonia1ECM1 CL E G H1893530Acute myeloblastic leukemia type 5ORPHA11063153602201
HP:0001332HP:0010553Oculogyric crisis1ECM1 CL E G H1893530Acute myeloblastic leukemia type 5ORPHA11063153602201
HP:0001332HP:0002268Paroxysmal dystonia1ECM1 CL E G H1893530Acute myeloblastic leukemia type 5ORPHA11063153602201
HP:0001332HP:0001304Torsion dystonia1ECM1 CL E G H1893530Acute myeloblastic leukemia type 5ORPHA11063153602201
HP:0001332HP:0002530Axial dystonia1EPRS CL E G H2058617951LEUKODYSTROPHY, HYPOMYELINATING, 15617951CN244566OMIM13418138295
HP:0001332HP:0004373Focal dystonia1EPRS CL E G H2058617951LEUKODYSTROPHY, HYPOMYELINATING, 15617951CN244566OMIM13418138295
HP:0001332HP:0007325Generalized dystonia1EPRS CL E G H2058617951LEUKODYSTROPHY, HYPOMYELINATING, 15617951CN244566OMIM13418138295
HP:0001332HP:0032005Hemidystonia1EPRS CL E G H2058617951LEUKODYSTROPHY, HYPOMYELINATING, 15617951CN244566OMIM13418138295
HP:0001332HP:0002451Limb dystonia1EPRS CL E G H2058617951LEUKODYSTROPHY, HYPOMYELINATING, 15617951CN244566OMIM13418138295
HP:0001332HP:0010553Oculogyric crisis1EPRS CL E G H2058617951LEUKODYSTROPHY, HYPOMYELINATING, 15617951CN244566OMIM13418138295
HP:0001332HP:0002268Paroxysmal dystonia1EPRS CL E G H2058617951LEUKODYSTROPHY, HYPOMYELINATING, 15617951CN244566OMIM13418138295
HP:0001332HP:0001304Torsion dystonia1EPRS CL E G H2058617951LEUKODYSTROPHY, HYPOMYELINATING, 15617951CN244566OMIM13418138295
HP:0001332HP:0002530Axial dystonia1FA2H CL E G H79152612319Spastic paraplegia 35612319C3668943OMIM138121197611026
HP:0001332HP:0004373Focal dystonia1FA2H CL E G H79152612319Spastic paraplegia 35612319C3668943OMIM138121197611026
HP:0001332HP:0007325Generalized dystonia1FA2H CL E G H79152612319Spastic paraplegia 35612319C3668943OMIM138121197611026
HP:0001332HP:0032005Hemidystonia1FA2H CL E G H79152612319Spastic paraplegia 35612319C3668943OMIM138121197611026
HP:0001332HP:0002451Limb dystonia1FA2H CL E G H79152612319Spastic paraplegia 35612319C3668943OMIM138121197611026
HP:0001332HP:0010553Oculogyric crisis1FA2H CL E G H79152612319Spastic paraplegia 35612319C3668943OMIM138121197611026
HP:0001332HP:0002268Paroxysmal dystonia1FA2H CL E G H79152612319Spastic paraplegia 35612319C3668943OMIM138121197611026
HP:0001332HP:0001304Torsion dystonia1FA2H CL E G H79152612319Spastic paraplegia 35612319C3668943OMIM138121197611026
HP:0001332HP:0002530Axial dystonia1FBXO7 CL E G H25793171695ORPHA124313586605648
HP:0001332HP:0004373Focal dystonia1FBXO7 CL E G H25793171695ORPHA124313586605648
HP:0001332HP:0007325Generalized dystonia1FBXO7 CL E G H25793171695ORPHA124313586605648
HP:0001332HP:0032005Hemidystonia1FBXO7 CL E G H25793171695ORPHA124313586605648
HP:0001332HP:0002451Limb dystonia1FBXO7 CL E G H25793171695ORPHA124313586605648
HP:0001332HP:0010553Oculogyric crisis1FBXO7 CL E G H25793171695ORPHA124313586605648
HP:0001332HP:0002268Paroxysmal dystonia1FBXO7 CL E G H25793171695ORPHA124313586605648
HP:0001332HP:0001304Torsion dystonia1FBXO7 CL E G H25793171695ORPHA124313586605648
HP:0001332HP:0002530Axial dystonia1FBXO7 CL E G H25793260300Parkinson disease 15260300C1850100OMIM124313586605648
HP:0001332HP:0004373Focal dystonia1FBXO7 CL E G H25793260300Parkinson disease 15260300C1850100OMIM124313586605648
HP:0001332HP:0007325Generalized dystonia1FBXO7 CL E G H25793260300Parkinson disease 15260300C1850100OMIM124313586605648
HP:0001332HP:0032005Hemidystonia1FBXO7 CL E G H25793260300Parkinson disease 15260300C1850100OMIM124313586605648
HP:0001332HP:0002451Limb dystonia1FBXO7 CL E G H25793260300Parkinson disease 15260300C1850100OMIM124313586605648
HP:0001332HP:0010553Oculogyric crisis1FBXO7 CL E G H25793260300Parkinson disease 15260300C1850100OMIM124313586605648
HP:0001332HP:0002268Paroxysmal dystonia1FBXO7 CL E G H25793260300Parkinson disease 15260300C1850100OMIM124313586605648
HP:0001332HP:0001304Torsion dystonia1FBXO7 CL E G H25793260300Parkinson disease 15260300C1850100OMIM124313586605648
HP:0001332HP:0002530Axial dystonia1FOXG1 CL E G H2290613454Rett syndrome, congenital variant613454C3150705OMIM17253811164874
HP:0001332HP:0004373Focal dystonia1FOXG1 CL E G H2290613454Rett syndrome, congenital variant613454C3150705OMIM17253811164874
HP:0001332HP:0007325Generalized dystonia1FOXG1 CL E G H2290613454Rett syndrome, congenital variant613454C3150705OMIM17253811164874
HP:0001332HP:0032005Hemidystonia1FOXG1 CL E G H2290613454Rett syndrome, congenital variant613454C3150705OMIM17253811164874
HP:0001332HP:0002451Limb dystonia1FOXG1 CL E G H2290613454Rett syndrome, congenital variant613454C3150705OMIM17253811164874
HP:0001332HP:0010553Oculogyric crisis1FOXG1 CL E G H2290613454Rett syndrome, congenital variant613454C3150705OMIM17253811164874
HP:0001332HP:0002268Paroxysmal dystonia1FOXG1 CL E G H2290613454Rett syndrome, congenital variant613454C3150705OMIM17253811164874
HP:0001332HP:0001304Torsion dystonia1FOXG1 CL E G H2290613454Rett syndrome, congenital variant613454C3150705OMIM17253811164874
HP:0001332HP:0002530Axial dystonia1FOXRED1 CL E G H55572255241ORPHA132326927613622
HP:0001332HP:0004373Focal dystonia1FOXRED1 CL E G H55572255241ORPHA132326927613622
HP:0001332HP:0007325Generalized dystonia1FOXRED1 CL E G H55572255241ORPHA132326927613622
HP:0001332HP:0032005Hemidystonia1FOXRED1 CL E G H55572255241ORPHA132326927613622
HP:0001332HP:0002451Limb dystonia1FOXRED1 CL E G H55572255241ORPHA132326927613622
HP:0001332HP:0010553Oculogyric crisis1FOXRED1 CL E G H55572255241ORPHA132326927613622
HP:0001332HP:0002268Paroxysmal dystonia1FOXRED1 CL E G H55572255241ORPHA132326927613622
HP:0001332HP:0001304Torsion dystonia1FOXRED1 CL E G H55572255241ORPHA132326927613622
HP:0001332HP:0002530Axial dystonia1FTL CL E G H2512157846ORPHA11853999134790
HP:0001332HP:0004373Focal dystonia1FTL CL E G H2512157846ORPHA11853999134790
HP:0001332HP:0007325Generalized dystonia1FTL CL E G H2512157846ORPHA11853999134790
HP:0001332HP:0032005Hemidystonia1FTL CL E G H2512157846ORPHA11853999134790
HP:0001332HP:0002451Limb dystonia1FTL CL E G H2512157846ORPHA11853999134790
HP:0001332HP:0010553Oculogyric crisis1FTL CL E G H2512157846ORPHA11853999134790
HP:0001332HP:0002268Paroxysmal dystonia1FTL CL E G H2512157846ORPHA11853999134790
HP:0001332HP:0001304Torsion dystonia1FTL CL E G H2512157846ORPHA11853999134790
HP:0001332HP:0002530Axial dystonia1GABBR2 CL E G H9568617903NEURODEVELOPMENTAL DISORDER WITH POOR LANGUAGE AND LOSS OF HAND SKILLS617903CN870852OMIM18484507607340
HP:0001332HP:0004373Focal dystonia1GABBR2 CL E G H9568617903NEURODEVELOPMENTAL DISORDER WITH POOR LANGUAGE AND LOSS OF HAND SKILLS617903CN870852OMIM18484507607340
HP:0001332HP:0007325Generalized dystonia1GABBR2 CL E G H9568617903NEURODEVELOPMENTAL DISORDER WITH POOR LANGUAGE AND LOSS OF HAND SKILLS617903CN870852OMIM18484507607340
HP:0001332HP:0032005Hemidystonia1GABBR2 CL E G H9568617903NEURODEVELOPMENTAL DISORDER WITH POOR LANGUAGE AND LOSS OF HAND SKILLS617903CN870852OMIM18484507607340
HP:0001332HP:0002451Limb dystonia1GABBR2 CL E G H9568617903NEURODEVELOPMENTAL DISORDER WITH POOR LANGUAGE AND LOSS OF HAND SKILLS617903CN870852OMIM18484507607340
HP:0001332HP:0010553Oculogyric crisis1GABBR2 CL E G H9568617903NEURODEVELOPMENTAL DISORDER WITH POOR LANGUAGE AND LOSS OF HAND SKILLS617903CN870852OMIM18484507607340
HP:0001332HP:0002268Paroxysmal dystonia1GABBR2 CL E G H9568617903NEURODEVELOPMENTAL DISORDER WITH POOR LANGUAGE AND LOSS OF HAND SKILLS617903CN870852OMIM18484507607340
HP:0001332HP:0001304Torsion dystonia1GABBR2 CL E G H9568617903NEURODEVELOPMENTAL DISORDER WITH POOR LANGUAGE AND LOSS OF HAND SKILLS617903CN870852OMIM18484507607340
HP:0001332HP:0002530Axial dystonia1GABRB2 CL E G H2561617829EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 2617829CN757794OMIM14944082600232
HP:0001332HP:0004373Focal dystonia1GABRB2 CL E G H2561617829EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 2617829CN757794OMIM14944082600232
HP:0001332HP:0007325Generalized dystonia1GABRB2 CL E G H2561617829EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 2617829CN757794OMIM14944082600232
HP:0001332HP:0032005Hemidystonia1GABRB2 CL E G H2561617829EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 2617829CN757794OMIM14944082600232
HP:0001332HP:0002451Limb dystonia1GABRB2 CL E G H2561617829EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 2617829CN757794OMIM14944082600232
HP:0001332HP:0010553Oculogyric crisis1GABRB2 CL E G H2561617829EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 2617829CN757794OMIM14944082600232
HP:0001332HP:0002268Paroxysmal dystonia1GABRB2 CL E G H2561617829EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 2617829CN757794OMIM14944082600232
HP:0001332HP:0001304Torsion dystonia1GABRB2 CL E G H2561617829EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 2617829CN757794OMIM14944082600232
HP:0001332HP:0002530Axial dystonia1GBA CL E G H262977260ORPHA14177606463
HP:0001332HP:0004373Focal dystonia1GBA CL E G H262977260ORPHA14177606463
HP:0001332HP:0007325Generalized dystonia1GBA CL E G H262977260ORPHA14177606463
HP:0001332HP:0032005Hemidystonia1GBA CL E G H262977260ORPHA14177606463
HP:0001332HP:0002451Limb dystonia1GBA CL E G H262977260ORPHA14177606463
HP:0001332HP:0010553Oculogyric crisis1GBA CL E G H262977260ORPHA14177606463
HP:0001332HP:0002268Paroxysmal dystonia1GBA CL E G H262977260ORPHA14177606463
HP:0001332HP:0001304Torsion dystonia1GBA CL E G H262977260ORPHA14177606463
HP:0001332HP:0002530Axial dystonia1GCDH CL E G H263925ORPHA17204189608801
HP:0001332HP:0004373Focal dystonia1GCDH CL E G H263925ORPHA17204189608801
HP:0001332HP:0007325Generalized dystonia1GCDH CL E G H263925ORPHA17204189608801
HP:0001332HP:0032005Hemidystonia1GCDH CL E G H263925ORPHA17204189608801
HP:0001332HP:0002451Limb dystonia1GCDH CL E G H263925ORPHA17204189608801
HP:0001332HP:0010553Oculogyric crisis1GCDH CL E G H263925ORPHA17204189608801
HP:0001332HP:0002268Paroxysmal dystonia1GCDH CL E G H263925ORPHA17204189608801
HP:0001332HP:0001304Torsion dystonia1GCDH CL E G H263925ORPHA17204189608801
HP:0001332HP:0002530Axial dystonia1GCDH CL E G H2639231670Glutaric aciduria, type 1231670C0268595OMIM17204189608801
HP:0001332HP:0004373Focal dystonia1GCDH CL E G H2639231670Glutaric aciduria, type 1231670C0268595OMIM17204189608801
HP:0001332HP:0007325Generalized dystonia1GCDH CL E G H2639231670Glutaric aciduria, type 1231670C0268595OMIM17204189608801
HP:0001332HP:0032005Hemidystonia1GCDH CL E G H2639231670Glutaric aciduria, type 1231670C0268595OMIM17204189608801
HP:0001332HP:0002451Limb dystonia1GCDH CL E G H2639231670Glutaric aciduria, type 1231670C0268595OMIM17204189608801
HP:0001332HP:0010553Oculogyric crisis1GCDH CL E G H2639231670Glutaric aciduria, type 1231670C0268595OMIM17204189608801
HP:0001332HP:0002268Paroxysmal dystonia1GCDH CL E G H2639231670Glutaric aciduria, type 1231670C0268595OMIM17204189608801
HP:0001332HP:0001304Torsion dystonia1GCDH CL E G H2639231670Glutaric aciduria, type 1231670C0268595OMIM17204189608801
HP:0001332HP:0002530Axial dystonia1GCH1 CL E G H2643233910GTP cyclohydrolase I deficiency233910C0268467OMIM14284193600225
HP:0001332HP:0004373Focal dystonia1GCH1 CL E G H2643233910GTP cyclohydrolase I deficiency233910C0268467OMIM14284193600225
HP:0001332HP:0007325Generalized dystonia1GCH1 CL E G H2643233910GTP cyclohydrolase I deficiency233910C0268467OMIM14284193600225
HP:0001332HP:0032005Hemidystonia1GCH1 CL E G H2643233910GTP cyclohydrolase I deficiency233910C0268467OMIM14284193600225
HP:0001332HP:0002451Limb dystonia1GCH1 CL E G H2643233910GTP cyclohydrolase I deficiency233910C0268467OMIM14284193600225
HP:0001332HP:0010553Oculogyric crisis1GCH1 CL E G H2643233910GTP cyclohydrolase I deficiency233910C0268467OMIM14284193600225
HP:0001332HP:0002268Paroxysmal dystonia1GCH1 CL E G H2643233910GTP cyclohydrolase I deficiency233910C0268467OMIM14284193600225
HP:0001332HP:0001304Torsion dystonia1GCH1 CL E G H2643233910GTP cyclohydrolase I deficiency233910C0268467OMIM14284193600225
HP:0001332HP:0002530Axial dystonia1GJC2 CL E G H57165608804Leukodystrophy, hypomyelinating, 2608804C1837355OMIM132317494608803
HP:0001332HP:0004373Focal dystonia1GJC2 CL E G H57165608804Leukodystrophy, hypomyelinating, 2608804C1837355OMIM132317494608803
HP:0001332HP:0007325Generalized dystonia1GJC2 CL E G H57165608804Leukodystrophy, hypomyelinating, 2608804C1837355OMIM132317494608803
HP:0001332HP:0032005Hemidystonia1GJC2 CL E G H57165608804Leukodystrophy, hypomyelinating, 2608804C1837355OMIM132317494608803
HP:0001332HP:0002451Limb dystonia1GJC2 CL E G H57165608804Leukodystrophy, hypomyelinating, 2608804C1837355OMIM132317494608803
HP:0001332HP:0010553Oculogyric crisis1GJC2 CL E G H57165608804Leukodystrophy, hypomyelinating, 2608804C1837355OMIM132317494608803
HP:0001332HP:0002268Paroxysmal dystonia1GJC2 CL E G H57165608804Leukodystrophy, hypomyelinating, 2608804C1837355OMIM132317494608803
HP:0001332HP:0001304Torsion dystonia1GJC2 CL E G H57165608804Leukodystrophy, hypomyelinating, 2608804C1837355OMIM132317494608803
HP:0001332HP:0002530Axial dystonia1GLB1 CL E G H2720230650Gangliosidosis GM1 type 3230650C0268273OMIM19374298611458
HP:0001332HP:0004373Focal dystonia1GLB1 CL E G H2720230650Gangliosidosis GM1 type 3230650C0268273OMIM19374298611458
HP:0001332HP:0007325Generalized dystonia1GLB1 CL E G H2720230650Gangliosidosis GM1 type 3230650C0268273OMIM19374298611458
HP:0001332HP:0032005Hemidystonia1GLB1 CL E G H2720230650Gangliosidosis GM1 type 3230650C0268273OMIM19374298611458
HP:0001332HP:0002451Limb dystonia1GLB1 CL E G H2720230650Gangliosidosis GM1 type 3230650C0268273OMIM19374298611458
HP:0001332HP:0010553Oculogyric crisis1GLB1 CL E G H2720230650Gangliosidosis GM1 type 3230650C0268273OMIM19374298611458
HP:0001332HP:0002268Paroxysmal dystonia1GLB1 CL E G H2720230650Gangliosidosis GM1 type 3230650C0268273OMIM19374298611458
HP:0001332HP:0001304Torsion dystonia1GLB1 CL E G H2720230650Gangliosidosis GM1 type 3230650C0268273OMIM19374298611458
HP:0001332HP:0002530Axial dystonia1GM2A CL E G H2760309246ORPHA12124367613109
HP:0001332HP:0004373Focal dystonia1GM2A CL E G H2760309246ORPHA12124367613109
HP:0001332HP:0007325Generalized dystonia1GM2A CL E G H2760309246ORPHA12124367613109
HP:0001332HP:0032005Hemidystonia1GM2A CL E G H2760309246ORPHA12124367613109
HP:0001332HP:0002451Limb dystonia1GM2A CL E G H2760309246ORPHA12124367613109
HP:0001332HP:0010553Oculogyric crisis1GM2A CL E G H2760309246ORPHA12124367613109
HP:0001332HP:0002268Paroxysmal dystonia1GM2A CL E G H2760309246ORPHA12124367613109
HP:0001332HP:0001304Torsion dystonia1GM2A CL E G H2760309246ORPHA12124367613109
HP:0001332HP:0002530Axial dystonia1GM2A CL E G H2760272750Tay-Sachs disease, variant AB272750C0268275OMIM12124367613109
HP:0001332HP:0004373Focal dystonia1GM2A CL E G H2760272750Tay-Sachs disease, variant AB272750C0268275OMIM12124367613109
HP:0001332HP:0007325Generalized dystonia1GM2A CL E G H2760272750Tay-Sachs disease, variant AB272750C0268275OMIM12124367613109
HP:0001332HP:0032005Hemidystonia1GM2A CL E G H2760272750Tay-Sachs disease, variant AB272750C0268275OMIM12124367613109
HP:0001332HP:0002451Limb dystonia1GM2A CL E G H2760272750Tay-Sachs disease, variant AB272750C0268275OMIM12124367613109
HP:0001332HP:0010553Oculogyric crisis1GM2A CL E G H2760272750Tay-Sachs disease, variant AB272750C0268275OMIM12124367613109
HP:0001332HP:0002268Paroxysmal dystonia1GM2A CL E G H2760272750Tay-Sachs disease, variant AB272750C0268275OMIM12124367613109
HP:0001332HP:0001304Torsion dystonia1GM2A CL E G H2760272750Tay-Sachs disease, variant AB272750C0268275OMIM12124367613109
HP:0001332HP:0002530Axial dystonia1GNAO1 CL E G H2775617493Neurodevelopmental disorder with involuntary movements617493C4479569OMIM14294389139311
HP:0001332HP:0004373Focal dystonia1GNAO1 CL E G H2775617493Neurodevelopmental disorder with involuntary movements617493C4479569OMIM14294389139311
HP:0001332HP:0007325Generalized dystonia1GNAO1 CL E G H2775617493Neurodevelopmental disorder with involuntary movements617493C4479569OMIM14294389139311
HP:0001332HP:0032005Hemidystonia1GNAO1 CL E G H2775617493Neurodevelopmental disorder with involuntary movements617493C4479569OMIM14294389139311
HP:0001332HP:0002451Limb dystonia1GNAO1 CL E G H2775617493Neurodevelopmental disorder with involuntary movements617493C4479569OMIM14294389139311
HP:0001332HP:0010553Oculogyric crisis1GNAO1 CL E G H2775617493Neurodevelopmental disorder with involuntary movements617493C4479569OMIM14294389139311
HP:0001332HP:0002268Paroxysmal dystonia1GNAO1 CL E G H2775617493Neurodevelopmental disorder with involuntary movements617493C4479569OMIM14294389139311
HP:0001332HP:0001304Torsion dystonia1GNAO1 CL E G H2775617493Neurodevelopmental disorder with involuntary movements617493C4479569OMIM14294389139311
HP:0001332HP:0002530Axial dystonia1GRIN1 CL E G H2902617820NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE617820CN737161OMIM19294584138249
HP:0001332HP:0004373Focal dystonia1GRIN1 CL E G H2902617820NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE617820CN737161OMIM19294584138249
HP:0001332HP:0007325Generalized dystonia1GRIN1 CL E G H2902617820NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE617820CN737161OMIM19294584138249
HP:0001332HP:0032005Hemidystonia1GRIN1 CL E G H2902617820NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE617820CN737161OMIM19294584138249
HP:0001332HP:0002451Limb dystonia1GRIN1 CL E G H2902617820NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE617820CN737161OMIM19294584138249
HP:0001332HP:0010553Oculogyric crisis1GRIN1 CL E G H2902617820NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE617820CN737161OMIM19294584138249
HP:0001332HP:0002268Paroxysmal dystonia1GRIN1 CL E G H2902617820NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE617820CN737161OMIM19294584138249
HP:0001332HP:0001304Torsion dystonia1GRIN1 CL E G H2902617820NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE617820CN737161OMIM19294584138249
HP:0001332HP:0002530Axial dystonia1GRIN2B CL E G H2904616139Epileptic encephalopathy, early infantile, 27616139C4015316OMIM113534586138252
HP:0001332HP:0004373Focal dystonia1GRIN2B CL E G H2904616139Epileptic encephalopathy, early infantile, 27616139C4015316OMIM113534586138252
HP:0001332HP:0007325Generalized dystonia1GRIN2B CL E G H2904616139Epileptic encephalopathy, early infantile, 27616139C4015316OMIM113534586138252
HP:0001332HP:0032005Hemidystonia1GRIN2B CL E G H2904616139Epileptic encephalopathy, early infantile, 27616139C4015316OMIM113534586138252
HP:0001332HP:0002451Limb dystonia1GRIN2B CL E G H2904616139Epileptic encephalopathy, early infantile, 27616139C4015316OMIM113534586138252
HP:0001332HP:0010553Oculogyric crisis1GRIN2B CL E G H2904616139Epileptic encephalopathy, early infantile, 27616139C4015316OMIM113534586138252
HP:0001332HP:0002268Paroxysmal dystonia1GRIN2B CL E G H2904616139Epileptic encephalopathy, early infantile, 27616139C4015316OMIM113534586138252
HP:0001332HP:0001304Torsion dystonia1GRIN2B CL E G H2904616139Epileptic encephalopathy, early infantile, 27616139C4015316OMIM113534586138252
HP:0001332HP:0002530Axial dystonia1GRIN2B CL E G H2904613970Mental retardation, autosomal dominant 6613970C3151411OMIM113534586138252
HP:0001332HP:0004373Focal dystonia1GRIN2B CL E G H2904613970Mental retardation, autosomal dominant 6613970C3151411OMIM113534586138252
HP:0001332HP:0007325Generalized dystonia1GRIN2B CL E G H2904613970Mental retardation, autosomal dominant 6613970C3151411OMIM113534586138252
HP:0001332HP:0032005Hemidystonia1GRIN2B CL E G H2904613970Mental retardation, autosomal dominant 6613970C3151411OMIM113534586138252
HP:0001332HP:0002451Limb dystonia1GRIN2B CL E G H2904613970Mental retardation, autosomal dominant 6613970C3151411OMIM113534586138252
HP:0001332HP:0010553Oculogyric crisis1GRIN2B CL E G H2904613970Mental retardation, autosomal dominant 6613970C3151411OMIM113534586138252
HP:0001332HP:0002268Paroxysmal dystonia1GRIN2B CL E G H2904613970Mental retardation, autosomal dominant 6613970C3151411OMIM113534586138252
HP:0001332HP:0001304Torsion dystonia1GRIN2B CL E G H2904613970Mental retardation, autosomal dominant 6613970C3151411OMIM113534586138252
HP:0001332HP:0002530Axial dystonia1GTPBP2 CL E G H54676617988JABERI-ELAHI SYNDROME617988CN244943OMIM11474670607434
HP:0001332HP:0004373Focal dystonia1GTPBP2 CL E G H54676617988JABERI-ELAHI SYNDROME617988CN244943OMIM11474670607434
HP:0001332HP:0007325Generalized dystonia1GTPBP2 CL E G H54676617988JABERI-ELAHI SYNDROME617988CN244943OMIM11474670607434
HP:0001332HP:0032005Hemidystonia1GTPBP2 CL E G H54676617988JABERI-ELAHI SYNDROME617988CN244943OMIM11474670607434
HP:0001332HP:0002451Limb dystonia1GTPBP2 CL E G H54676617988JABERI-ELAHI SYNDROME617988CN244943OMIM11474670607434
HP:0001332HP:0010553Oculogyric crisis1GTPBP2 CL E G H54676617988JABERI-ELAHI SYNDROME617988CN244943OMIM11474670607434
HP:0001332HP:0002268Paroxysmal dystonia1GTPBP2 CL E G H54676617988JABERI-ELAHI SYNDROME617988CN244943OMIM11474670607434
HP:0001332HP:0001304Torsion dystonia1GTPBP2 CL E G H54676617988JABERI-ELAHI SYNDROME617988CN244943OMIM11474670607434
HP:0001332HP:0002530Axial dystonia1HACE1 CL E G H57531464282ORPHA122721033610876
HP:0001332HP:0004373Focal dystonia1HACE1 CL E G H57531464282ORPHA122721033610876
HP:0001332HP:0007325Generalized dystonia1HACE1 CL E G H57531464282ORPHA122721033610876
HP:0001332HP:0032005Hemidystonia1HACE1 CL E G H57531464282ORPHA122721033610876
HP:0001332HP:0002451Limb dystonia1HACE1 CL E G H57531464282ORPHA122721033610876
HP:0001332HP:0010553Oculogyric crisis1HACE1 CL E G H57531464282ORPHA122721033610876
HP:0001332HP:0002268Paroxysmal dystonia1HACE1 CL E G H57531464282ORPHA122721033610876
HP:0001332HP:0001304Torsion dystonia1HACE1 CL E G H57531464282ORPHA122721033610876
HP:0001332HP:0002530Axial dystonia1HIBCH CL E G H26275250620Beta-hydroxyisobutyryl-CoA deacylase deficiency250620C0342738OMIM12354908610690
HP:0001332HP:0004373Focal dystonia1HIBCH CL E G H26275250620Beta-hydroxyisobutyryl-CoA deacylase deficiency250620C0342738OMIM12354908610690
HP:0001332HP:0007325Generalized dystonia1HIBCH CL E G H26275250620Beta-hydroxyisobutyryl-CoA deacylase deficiency250620C0342738OMIM12354908610690
HP:0001332HP:0032005Hemidystonia1HIBCH CL E G H26275250620Beta-hydroxyisobutyryl-CoA deacylase deficiency250620C0342738OMIM12354908610690
HP:0001332HP:0002451Limb dystonia1HIBCH CL E G H26275250620Beta-hydroxyisobutyryl-CoA deacylase deficiency250620C0342738OMIM12354908610690
HP:0001332HP:0010553Oculogyric crisis1HIBCH CL E G H26275250620Beta-hydroxyisobutyryl-CoA deacylase deficiency250620C0342738OMIM12354908610690
HP:0001332HP:0002268Paroxysmal dystonia1HIBCH CL E G H26275250620Beta-hydroxyisobutyryl-CoA deacylase deficiency250620C0342738OMIM12354908610690
HP:0001332HP:0001304Torsion dystonia1HIBCH CL E G H26275250620Beta-hydroxyisobutyryl-CoA deacylase deficiency250620C0342738OMIM12354908610690
HP:0001332HP:0002530Axial dystonia1HPRT1 CL E G H3251300322Lesch-Nyhan syndrome300322C0023374OMIM13545157308000
HP:0001332HP:0004373Focal dystonia1HPRT1 CL E G H3251300322Lesch-Nyhan syndrome300322C0023374OMIM13545157308000
HP:0001332HP:0007325Generalized dystonia1HPRT1 CL E G H3251300322Lesch-Nyhan syndrome300322C0023374OMIM13545157308000
HP:0001332HP:0032005Hemidystonia1HPRT1 CL E G H3251300322Lesch-Nyhan syndrome300322C0023374OMIM13545157308000
HP:0001332HP:0002451Limb dystonia1HPRT1 CL E G H3251300322Lesch-Nyhan syndrome300322C0023374OMIM13545157308000
HP:0001332HP:0010553Oculogyric crisis1HPRT1 CL E G H3251300322Lesch-Nyhan syndrome300322C0023374OMIM13545157308000
HP:0001332HP:0002268Paroxysmal dystonia1HPRT1 CL E G H3251300322Lesch-Nyhan syndrome300322C0023374OMIM13545157308000
HP:0001332HP:0001304Torsion dystonia1HPRT1 CL E G H3251300322Lesch-Nyhan syndrome300322C0023374OMIM13545157308000
HP:0001332HP:0002530Axial dystonia1HTRA2 CL E G H274296172483-methylglutaconic aciduria, type VIII617248C4310650OMIM124414348606441
HP:0001332HP:0004373Focal dystonia1HTRA2 CL E G H274296172483-methylglutaconic aciduria, type VIII617248C4310650OMIM124414348606441
HP:0001332HP:0007325Generalized dystonia1HTRA2 CL E G H274296172483-methylglutaconic aciduria, type VIII617248C4310650OMIM124414348606441
HP:0001332HP:0032005Hemidystonia1HTRA2 CL E G H274296172483-methylglutaconic aciduria, type VIII617248C4310650OMIM124414348606441
HP:0001332HP:0002451Limb dystonia1HTRA2 CL E G H274296172483-methylglutaconic aciduria, type VIII617248C4310650OMIM124414348606441
HP:0001332HP:0010553Oculogyric crisis1HTRA2 CL E G H274296172483-methylglutaconic aciduria, type VIII617248C4310650OMIM124414348606441
HP:0001332HP:0002268Paroxysmal dystonia1HTRA2 CL E G H274296172483-methylglutaconic aciduria, type VIII617248C4310650OMIM124414348606441
HP:0001332HP:0001304Torsion dystonia1HTRA2 CL E G H274296172483-methylglutaconic aciduria, type VIII617248C4310650OMIM124414348606441
HP:0001332HP:0002530Axial dystonia1HTT CL E G H3064248111ORPHA17604851613004
HP:0001332HP:0004373Focal dystonia1HTT CL E G H3064248111ORPHA17604851613004
HP:0001332HP:0007325Generalized dystonia1HTT CL E G H3064248111ORPHA17604851613004
HP:0001332HP:0032005Hemidystonia1HTT CL E G H3064248111ORPHA17604851613004
HP:0001332HP:0002451Limb dystonia1HTT CL E G H3064248111ORPHA17604851613004
HP:0001332HP:0010553Oculogyric crisis1HTT CL E G H3064248111ORPHA17604851613004
HP:0001332HP:0002268Paroxysmal dystonia1HTT CL E G H3064248111ORPHA17604851613004
HP:0001332HP:0001304Torsion dystonia1HTT CL E G H3064248111ORPHA17604851613004
HP:0001332HP:0002530Axial dystonia1HTT CL E G H3064617435Lopes-Maciel-Rodan syndrome617435C4479491OMIM17604851613004
HP:0001332HP:0004373Focal dystonia1HTT CL E G H3064617435Lopes-Maciel-Rodan syndrome617435C4479491OMIM17604851613004
HP:0001332HP:0007325Generalized dystonia1HTT CL E G H3064617435Lopes-Maciel-Rodan syndrome617435C4479491OMIM17604851613004
HP:0001332HP:0032005Hemidystonia1HTT CL E G H3064617435Lopes-Maciel-Rodan syndrome617435C4479491OMIM17604851613004
HP:0001332HP:0002451Limb dystonia1HTT CL E G H3064617435Lopes-Maciel-Rodan syndrome617435C4479491OMIM17604851613004
HP:0001332HP:0010553Oculogyric crisis1HTT CL E G H3064617435Lopes-Maciel-Rodan syndrome617435C4479491OMIM17604851613004
HP:0001332HP:0002268Paroxysmal dystonia1HTT CL E G H3064617435Lopes-Maciel-Rodan syndrome617435C4479491OMIM17604851613004
HP:0001332HP:0001304Torsion dystonia1HTT CL E G H3064617435Lopes-Maciel-Rodan syndrome617435C4479491OMIM17604851613004
HP:0001332HP:0002530Axial dystonia1IFIH1 CL E G H6413551ORPHA1117018873606951
HP:0001332HP:0004373Focal dystonia1IFIH1 CL E G H6413551ORPHA1117018873606951
HP:0001332HP:0007325Generalized dystonia1IFIH1 CL E G H6413551ORPHA1117018873606951
HP:0001332HP:0032005Hemidystonia1IFIH1 CL E G H6413551ORPHA1117018873606951
HP:0001332HP:0002451Limb dystonia1IFIH1 CL E G H6413551ORPHA1117018873606951
HP:0001332HP:0010553Oculogyric crisis1IFIH1 CL E G H6413551ORPHA1117018873606951
HP:0001332HP:0002268Paroxysmal dystonia1IFIH1 CL E G H6413551ORPHA1117018873606951
HP:0001332HP:0001304Torsion dystonia1IFIH1 CL E G H6413551ORPHA1117018873606951
HP:0001332HP:0002530Axial dystonia1IFIH1 CL E G H64135615846Aicardi-Goutieres syndrome 7615846C3888244OMIM1117018873606951
HP:0001332HP:0004373Focal dystonia1IFIH1 CL E G H64135615846Aicardi-Goutieres syndrome 7615846C3888244OMIM1117018873606951
HP:0001332HP:0007325Generalized dystonia1IFIH1 CL E G H64135615846Aicardi-Goutieres syndrome 7615846C3888244OMIM1117018873606951
HP:0001332HP:0032005Hemidystonia1IFIH1 CL E G H64135615846Aicardi-Goutieres syndrome 7615846C3888244OMIM1117018873606951
HP:0001332HP:0002451Limb dystonia1IFIH1 CL E G H64135615846Aicardi-Goutieres syndrome 7615846C3888244OMIM1117018873606951
HP:0001332HP:0010553Oculogyric crisis1IFIH1 CL E G H64135615846Aicardi-Goutieres syndrome 7615846C3888244OMIM1117018873606951
HP:0001332HP:0002268Paroxysmal dystonia1IFIH1 CL E G H64135615846Aicardi-Goutieres syndrome 7615846C3888244OMIM1117018873606951
HP:0001332HP:0001304Torsion dystonia1IFIH1 CL E G H64135615846Aicardi-Goutieres syndrome 7615846C3888244OMIM1117018873606951
HP:0001332HP:0002530Axial dystonia1IRF2BPL CL E G H64207618088NEURODEVELOPMENTAL DISORDER WITH REGRESSION, ABNORMAL MOVEMENTS, LOSS OF SPEECH, AND SEIZURES618088CN252701OMIM131214282611720
HP:0001332HP:0004373Focal dystonia1IRF2BPL CL E G H64207618088NEURODEVELOPMENTAL DISORDER WITH REGRESSION, ABNORMAL MOVEMENTS, LOSS OF SPEECH, AND SEIZURES618088CN252701OMIM131214282611720
HP:0001332HP:0007325Generalized dystonia1IRF2BPL CL E G H64207618088NEURODEVELOPMENTAL DISORDER WITH REGRESSION, ABNORMAL MOVEMENTS, LOSS OF SPEECH, AND SEIZURES618088CN252701OMIM131214282611720
HP:0001332HP:0032005Hemidystonia1IRF2BPL CL E G H64207618088NEURODEVELOPMENTAL DISORDER WITH REGRESSION, ABNORMAL MOVEMENTS, LOSS OF SPEECH, AND SEIZURES618088CN252701OMIM131214282611720
HP:0001332HP:0002451Limb dystonia1IRF2BPL CL E G H64207618088NEURODEVELOPMENTAL DISORDER WITH REGRESSION, ABNORMAL MOVEMENTS, LOSS OF SPEECH, AND SEIZURES618088CN252701OMIM131214282611720
HP:0001332HP:0010553Oculogyric crisis1IRF2BPL CL E G H64207618088NEURODEVELOPMENTAL DISORDER WITH REGRESSION, ABNORMAL MOVEMENTS, LOSS OF SPEECH, AND SEIZURES618088CN252701OMIM131214282611720
HP:0001332HP:0002268Paroxysmal dystonia1IRF2BPL CL E G H64207618088NEURODEVELOPMENTAL DISORDER WITH REGRESSION, ABNORMAL MOVEMENTS, LOSS OF SPEECH, AND SEIZURES618088CN252701OMIM131214282611720
HP:0001332HP:0001304Torsion dystonia1IRF2BPL CL E G H64207618088NEURODEVELOPMENTAL DISORDER WITH REGRESSION, ABNORMAL MOVEMENTS, LOSS OF SPEECH, AND SEIZURES618088CN252701OMIM131214282611720
HP:0001332HP:0002530Axial dystonia1JPH3 CL E G H57338606438Huntington disease-like 2606438C1847987OMIM117614203605268
HP:0001332HP:0004373Focal dystonia1JPH3 CL E G H57338606438Huntington disease-like 2606438C1847987OMIM117614203605268
HP:0001332HP:0007325Generalized dystonia1JPH3 CL E G H57338606438Huntington disease-like 2606438C1847987OMIM117614203605268
HP:0001332HP:0032005Hemidystonia1JPH3 CL E G H57338606438Huntington disease-like 2606438C1847987OMIM117614203605268
HP:0001332HP:0002451Limb dystonia1JPH3 CL E G H57338606438Huntington disease-like 2606438C1847987OMIM117614203605268
HP:0001332HP:0010553Oculogyric crisis1JPH3 CL E G H57338606438Huntington disease-like 2606438C1847987OMIM117614203605268
HP:0001332HP:0002268Paroxysmal dystonia1JPH3 CL E G H57338606438Huntington disease-like 2606438C1847987OMIM117614203605268
HP:0001332HP:0001304Torsion dystonia1JPH3 CL E G H57338606438Huntington disease-like 2606438C1847987OMIM117614203605268
HP:0001332HP:0002530Axial dystonia1KCNQ2 CL E G H3785439218ORPHA119626296602235
HP:0001332HP:0004373Focal dystonia1KCNQ2 CL E G H3785439218ORPHA119626296602235
HP:0001332HP:0007325Generalized dystonia1KCNQ2 CL E G H3785439218ORPHA119626296602235
HP:0001332HP:0032005Hemidystonia1KCNQ2 CL E G H3785439218ORPHA119626296602235
HP:0001332HP:0002451Limb dystonia1KCNQ2 CL E G H3785439218ORPHA119626296602235
HP:0001332HP:0010553Oculogyric crisis1KCNQ2 CL E G H3785439218ORPHA119626296602235
HP:0001332HP:0002268Paroxysmal dystonia1KCNQ2 CL E G H3785439218ORPHA119626296602235
HP:0001332HP:0001304Torsion dystonia1KCNQ2 CL E G H3785439218ORPHA119626296602235
HP:0001332HP:0002530Axial dystonia1KCNQ2 CL E G H3785613720Early infantile epileptic encephalopathy 7613720C3150986OMIM119626296602235
HP:0001332HP:0004373Focal dystonia1KCNQ2 CL E G H3785613720Early infantile epileptic encephalopathy 7613720C3150986OMIM119626296602235
HP:0001332HP:0007325Generalized dystonia1KCNQ2 CL E G H3785613720Early infantile epileptic encephalopathy 7613720C3150986OMIM119626296602235
HP:0001332HP:0032005Hemidystonia1KCNQ2 CL E G H3785613720Early infantile epileptic encephalopathy 7613720C3150986OMIM119626296602235
HP:0001332HP:0002451Limb dystonia1KCNQ2 CL E G H3785613720Early infantile epileptic encephalopathy 7613720C3150986OMIM119626296602235
HP:0001332HP:0010553Oculogyric crisis1KCNQ2 CL E G H3785613720Early infantile epileptic encephalopathy 7613720C3150986OMIM119626296602235
HP:0001332HP:0002268Paroxysmal dystonia1KCNQ2 CL E G H3785613720Early infantile epileptic encephalopathy 7613720C3150986OMIM119626296602235
HP:0001332HP:0001304Torsion dystonia1KCNQ2 CL E G H3785613720Early infantile epileptic encephalopathy 7613720C3150986OMIM119626296602235
HP:0001332HP:0002530Axial dystonia1LIPT1 CL E G H51601255241ORPHA112429569610284
HP:0001332HP:0004373Focal dystonia1LIPT1 CL E G H51601255241ORPHA112429569610284
HP:0001332HP:0007325Generalized dystonia1LIPT1 CL E G H51601255241ORPHA112429569610284
HP:0001332HP:0032005Hemidystonia1LIPT1 CL E G H51601255241ORPHA112429569610284
HP:0001332HP:0002451Limb dystonia1LIPT1 CL E G H51601255241ORPHA112429569610284
HP:0001332HP:0010553Oculogyric crisis1LIPT1 CL E G H51601255241ORPHA112429569610284
HP:0001332HP:0002268Paroxysmal dystonia1LIPT1 CL E G H51601255241ORPHA112429569610284
HP:0001332HP:0001304Torsion dystonia1LIPT1 CL E G H51601255241ORPHA112429569610284
HP:0001332HP:0002530Axial dystonia1LIPT1 CL E G H51601616299Lipoyltransferase 1 deficiency616299C4225379OMIM112429569610284
HP:0001332HP:0004373Focal dystonia1LIPT1 CL E G H51601616299Lipoyltransferase 1 deficiency616299C4225379OMIM112429569610284
HP:0001332HP:0007325Generalized dystonia1LIPT1 CL E G H51601616299Lipoyltransferase 1 deficiency616299C4225379OMIM112429569610284
HP:0001332HP:0032005Hemidystonia1LIPT1 CL E G H51601616299Lipoyltransferase 1 deficiency616299C4225379OMIM112429569610284
HP:0001332HP:0002451Limb dystonia1LIPT1 CL E G H51601616299Lipoyltransferase 1 deficiency616299C4225379OMIM112429569610284
HP:0001332HP:0010553Oculogyric crisis1LIPT1 CL E G H51601616299Lipoyltransferase 1 deficiency616299C4225379OMIM112429569610284
HP:0001332HP:0002268Paroxysmal dystonia1LIPT1 CL E G H51601616299Lipoyltransferase 1 deficiency616299C4225379OMIM112429569610284
HP:0001332HP:0001304Torsion dystonia1LIPT1 CL E G H51601616299Lipoyltransferase 1 deficiency616299C4225379OMIM112429569610284
HP:0001332HP:0002530Axial dystonia1LIPT2 CL E G H387787617668ENCEPHALOPATHY, NEONATAL SEVERE, WITH LACTIC ACIDOSIS AND BRAIN ABNORMALITIES617668C4540052OMIM111337216617659
HP:0001332HP:0004373Focal dystonia1LIPT2 CL E G H387787617668ENCEPHALOPATHY, NEONATAL SEVERE, WITH LACTIC ACIDOSIS AND BRAIN ABNORMALITIES617668C4540052OMIM111337216617659
HP:0001332HP:0007325Generalized dystonia1LIPT2 CL E G H387787617668ENCEPHALOPATHY, NEONATAL SEVERE, WITH LACTIC ACIDOSIS AND BRAIN ABNORMALITIES617668C4540052OMIM111337216617659
HP:0001332HP:0032005Hemidystonia1LIPT2 CL E G H387787617668ENCEPHALOPATHY, NEONATAL SEVERE, WITH LACTIC ACIDOSIS AND BRAIN ABNORMALITIES617668C4540052OMIM111337216617659
HP:0001332HP:0002451Limb dystonia1LIPT2 CL E G H387787617668ENCEPHALOPATHY, NEONATAL SEVERE, WITH LACTIC ACIDOSIS AND BRAIN ABNORMALITIES617668C4540052OMIM111337216617659
HP:0001332HP:0010553Oculogyric crisis1LIPT2 CL E G H387787617668ENCEPHALOPATHY, NEONATAL SEVERE, WITH LACTIC ACIDOSIS AND BRAIN ABNORMALITIES617668C4540052OMIM111337216617659
HP:0001332HP:0002268Paroxysmal dystonia1LIPT2 CL E G H387787617668ENCEPHALOPATHY, NEONATAL SEVERE, WITH LACTIC ACIDOSIS AND BRAIN ABNORMALITIES617668C4540052OMIM111337216617659
HP:0001332HP:0001304Torsion dystonia1LIPT2 CL E G H387787617668ENCEPHALOPATHY, NEONATAL SEVERE, WITH LACTIC ACIDOSIS AND BRAIN ABNORMALITIES617668C4540052OMIM111337216617659
HP:0001332HP:0002530Axial dystonia1MARS2 CL E G H92935314603ORPHA120425133609728
HP:0001332HP:0004373Focal dystonia1MARS2 CL E G H92935314603ORPHA120425133609728
HP:0001332HP:0007325Generalized dystonia1MARS2 CL E G H92935314603ORPHA120425133609728
HP:0001332HP:0032005Hemidystonia1MARS2 CL E G H92935314603ORPHA120425133609728
HP:0001332HP:0002451Limb dystonia1MARS2 CL E G H92935314603ORPHA120425133609728
HP:0001332HP:0010553Oculogyric crisis1MARS2 CL E G H92935314603ORPHA120425133609728
HP:0001332HP:0002268Paroxysmal dystonia1MARS2 CL E G H92935314603ORPHA120425133609728
HP:0001332HP:0001304Torsion dystonia1MARS2 CL E G H92935314603ORPHA120425133609728
HP:0001332HP:0002530Axial dystonia1MARS2 CL E G H92935611390Ataxia, spastic, 3, autosomal recessive611390C1969645OMIM120425133609728
HP:0001332HP:0004373Focal dystonia1MARS2 CL E G H92935611390Ataxia, spastic, 3, autosomal recessive611390C1969645OMIM120425133609728
HP:0001332HP:0007325Generalized dystonia1MARS2 CL E G H92935611390Ataxia, spastic, 3, autosomal recessive611390C1969645OMIM120425133609728
HP:0001332HP:0032005Hemidystonia1MARS2 CL E G H92935611390Ataxia, spastic, 3, autosomal recessive611390C1969645OMIM120425133609728
HP:0001332HP:0002451Limb dystonia1MARS2 CL E G H92935611390Ataxia, spastic, 3, autosomal recessive611390C1969645OMIM120425133609728
HP:0001332HP:0010553Oculogyric crisis1MARS2 CL E G H92935611390Ataxia, spastic, 3, autosomal recessive611390C1969645OMIM120425133609728
HP:0001332HP:0002268Paroxysmal dystonia1MARS2 CL E G H92935611390Ataxia, spastic, 3, autosomal recessive611390C1969645OMIM120425133609728
HP:0001332HP:0001304Torsion dystonia1MARS2 CL E G H92935611390Ataxia, spastic, 3, autosomal recessive611390C1969645OMIM120425133609728
HP:0001332HP:0002530Axial dystonia1MAT1A CL E G H4143250850Hepatic methionine adenosyltransferase deficiency250850C0268621OMIM13536903610550
HP:0001332HP:0004373Focal dystonia1MAT1A CL E G H4143250850Hepatic methionine adenosyltransferase deficiency250850C0268621OMIM13536903610550
HP:0001332HP:0007325Generalized dystonia1MAT1A CL E G H4143250850Hepatic methionine adenosyltransferase deficiency250850C0268621OMIM13536903610550
HP:0001332HP:0032005Hemidystonia1MAT1A CL E G H4143250850Hepatic methionine adenosyltransferase deficiency250850C0268621OMIM13536903610550
HP:0001332HP:0002451Limb dystonia1MAT1A CL E G H4143250850Hepatic methionine adenosyltransferase deficiency250850C0268621OMIM13536903610550
HP:0001332HP:0010553Oculogyric crisis1MAT1A CL E G H4143250850Hepatic methionine adenosyltransferase deficiency250850C0268621OMIM13536903610550
HP:0001332HP:0002268Paroxysmal dystonia1MAT1A CL E G H4143250850Hepatic methionine adenosyltransferase deficiency250850C0268621OMIM13536903610550
HP:0001332HP:0001304Torsion dystonia1MAT1A CL E G H4143250850Hepatic methionine adenosyltransferase deficiency250850C0268621OMIM13536903610550
HP:0001332HP:0002530Axial dystonia1MCOLN1 CL E G H57192252650Mucolipidosis type IV252650C0238286OMIM166913356605248
HP:0001332HP:0004373Focal dystonia1MCOLN1 CL E G H57192252650Mucolipidosis type IV252650C0238286OMIM166913356605248
HP:0001332HP:0007325Generalized dystonia1MCOLN1 CL E G H57192252650Mucolipidosis type IV252650C0238286OMIM166913356605248
HP:0001332HP:0032005Hemidystonia1MCOLN1 CL E G H57192252650Mucolipidosis type IV252650C0238286OMIM166913356605248
HP:0001332HP:0002451Limb dystonia1MCOLN1 CL E G H57192252650Mucolipidosis type IV252650C0238286OMIM166913356605248
HP:0001332HP:0010553Oculogyric crisis1MCOLN1 CL E G H57192252650Mucolipidosis type IV252650C0238286OMIM166913356605248
HP:0001332HP:0002268Paroxysmal dystonia1MCOLN1 CL E G H57192252650Mucolipidosis type IV252650C0238286OMIM166913356605248
HP:0001332HP:0001304Torsion dystonia1MCOLN1 CL E G H57192252650Mucolipidosis type IV252650C0238286OMIM166913356605248
HP:0001332HP:0002530Axial dystonia1MDH2 CL E G H4191617339Epileptic encephalopathy, early infantile, 51617339C4479208OMIM15936971154100
HP:0001332HP:0004373Focal dystonia1MDH2 CL E G H4191617339Epileptic encephalopathy, early infantile, 51617339C4479208OMIM15936971154100
HP:0001332HP:0007325Generalized dystonia1MDH2 CL E G H4191617339Epileptic encephalopathy, early infantile, 51617339C4479208OMIM15936971154100
HP:0001332HP:0032005Hemidystonia1MDH2 CL E G H4191617339Epileptic encephalopathy, early infantile, 51617339C4479208OMIM15936971154100
HP:0001332HP:0002451Limb dystonia1MDH2 CL E G H4191617339Epileptic encephalopathy, early infantile, 51617339C4479208OMIM15936971154100
HP:0001332HP:0010553Oculogyric crisis1MDH2 CL E G H4191617339Epileptic encephalopathy, early infantile, 51617339C4479208OMIM15936971154100
HP:0001332HP:0002268Paroxysmal dystonia1MDH2 CL E G H4191617339Epileptic encephalopathy, early infantile, 51617339C4479208OMIM15936971154100
HP:0001332HP:0001304Torsion dystonia1MDH2 CL E G H4191617339Epileptic encephalopathy, early infantile, 51617339C4479208OMIM15936971154100
HP:0001332HP:0002530Axial dystonia1MECP2 CL E G H4204778ORPHA119256990300005
HP:0001332HP:0004373Focal dystonia1MECP2 CL E G H4204778ORPHA119256990300005
HP:0001332HP:0007325Generalized dystonia1MECP2 CL E G H4204778ORPHA119256990300005
HP:0001332HP:0032005Hemidystonia1MECP2 CL E G H4204778ORPHA119256990300005
HP:0001332HP:0002451Limb dystonia1MECP2 CL E G H4204778ORPHA119256990300005
HP:0001332HP:0010553Oculogyric crisis1MECP2 CL E G H4204778ORPHA119256990300005
HP:0001332HP:0002268Paroxysmal dystonia1MECP2 CL E G H4204778ORPHA119256990300005
HP:0001332HP:0001304Torsion dystonia1MECP2 CL E G H4204778ORPHA119256990300005
HP:0001332HP:0002530Axial dystonia1MECP2 CL E G H4204312750Rett syndrome312750C0035372OMIM119256990300005
HP:0001332HP:0004373Focal dystonia1MECP2 CL E G H4204312750Rett syndrome312750C0035372OMIM119256990300005
HP:0001332HP:0007325Generalized dystonia1MECP2 CL E G H4204312750Rett syndrome312750C0035372OMIM119256990300005
HP:0001332HP:0032005Hemidystonia1MECP2 CL E G H4204312750Rett syndrome312750C0035372OMIM119256990300005
HP:0001332HP:0002451Limb dystonia1MECP2 CL E G H4204312750Rett syndrome312750C0035372OMIM119256990300005
HP:0001332HP:0010553Oculogyric crisis1MECP2 CL E G H4204312750Rett syndrome312750C0035372OMIM119256990300005
HP:0001332HP:0002268Paroxysmal dystonia1MECP2 CL E G H4204312750Rett syndrome312750C0035372OMIM119256990300005
HP:0001332HP:0001304Torsion dystonia1MECP2 CL E G H4204312750Rett syndrome312750C0035372OMIM119256990300005
HP:0001332HP:0002530Axial dystonia1MICU1 CL E G H10367401768ORPHA12651530605084
HP:0001332HP:0004373Focal dystonia1MICU1 CL E G H10367401768ORPHA12651530605084
HP:0001332HP:0007325Generalized dystonia1MICU1 CL E G H10367401768ORPHA12651530605084
HP:0001332HP:0032005Hemidystonia1MICU1 CL E G H10367401768ORPHA12651530605084
HP:0001332HP:0002451Limb dystonia1MICU1 CL E G H10367401768ORPHA12651530605084
HP:0001332HP:0010553Oculogyric crisis1MICU1 CL E G H10367401768ORPHA12651530605084
HP:0001332HP:0002268Paroxysmal dystonia1MICU1 CL E G H10367401768ORPHA12651530605084
HP:0001332HP:0001304Torsion dystonia1MICU1 CL E G H10367401768ORPHA12651530605084
HP:0001332HP:0002530Axial dystonia1MMADHC CL E G H27249277410Methylmalonic acidemia with homocystinuria cblD277410C1848552OMIM128225221611935
HP:0001332HP:0004373Focal dystonia1MMADHC CL E G H27249277410Methylmalonic acidemia with homocystinuria cblD277410C1848552OMIM128225221611935
HP:0001332HP:0007325Generalized dystonia1MMADHC CL E G H27249277410Methylmalonic acidemia with homocystinuria cblD277410C1848552OMIM128225221611935
HP:0001332HP:0032005Hemidystonia1MMADHC CL E G H27249277410Methylmalonic acidemia with homocystinuria cblD277410C1848552OMIM128225221611935
HP:0001332HP:0002451Limb dystonia1MMADHC CL E G H27249277410Methylmalonic acidemia with homocystinuria cblD277410C1848552OMIM128225221611935
HP:0001332HP:0010553Oculogyric crisis1MMADHC CL E G H27249277410Methylmalonic acidemia with homocystinuria cblD277410C1848552OMIM128225221611935
HP:0001332HP:0002268Paroxysmal dystonia1MMADHC CL E G H27249277410Methylmalonic acidemia with homocystinuria cblD277410C1848552OMIM128225221611935
HP:0001332HP:0001304Torsion dystonia1MMADHC CL E G H27249277410Methylmalonic acidemia with homocystinuria cblD277410C1848552OMIM128225221611935
HP:0001332HP:0002530Axial dystonia1MMUT CL E G H459479312ORPHA18967526609058
HP:0001332HP:0004373Focal dystonia1MMUT CL E G H459479312ORPHA18967526609058
HP:0001332HP:0007325Generalized dystonia1MMUT CL E G H459479312ORPHA18967526609058
HP:0001332HP:0032005Hemidystonia1MMUT CL E G H459479312ORPHA18967526609058
HP:0001332HP:0002451Limb dystonia1MMUT CL E G H459479312ORPHA18967526609058
HP:0001332HP:0010553Oculogyric crisis1MMUT CL E G H459479312ORPHA18967526609058
HP:0001332HP:0002268Paroxysmal dystonia1MMUT CL E G H459479312ORPHA18967526609058
HP:0001332HP:0001304Torsion dystonia1MMUT CL E G H459479312ORPHA18967526609058
HP:0001332HP:0002530Axial dystonia1MPV17 CL E G H4358256810Navajo neurohepatopathy256810C1850406OMIM12647224137960
HP:0001332HP:0004373Focal dystonia1MPV17 CL E G H4358256810Navajo neurohepatopathy256810C1850406OMIM12647224137960
HP:0001332HP:0007325Generalized dystonia1MPV17 CL E G H4358256810Navajo neurohepatopathy256810C1850406OMIM12647224137960
HP:0001332HP:0032005Hemidystonia1MPV17 CL E G H4358256810Navajo neurohepatopathy256810C1850406OMIM12647224137960
HP:0001332HP:0002451Limb dystonia1MPV17 CL E G H4358256810Navajo neurohepatopathy256810C1850406OMIM12647224137960
HP:0001332HP:0010553Oculogyric crisis1MPV17 CL E G H4358256810Navajo neurohepatopathy256810C1850406OMIM12647224137960
HP:0001332HP:0002268Paroxysmal dystonia1MPV17 CL E G H4358256810Navajo neurohepatopathy256810C1850406OMIM12647224137960
HP:0001332HP:0001304Torsion dystonia1MPV17 CL E G H4358256810Navajo neurohepatopathy256810C1850406OMIM12647224137960
HP:0001332HP:0002530Axial dystonia1MRE11 CL E G H4361251347ORPHA119117230600814
HP:0001332HP:0004373Focal dystonia1MRE11 CL E G H4361251347ORPHA119117230600814
HP:0001332HP:0007325Generalized dystonia1MRE11 CL E G H4361251347ORPHA119117230600814
HP:0001332HP:0032005Hemidystonia1MRE11 CL E G H4361251347ORPHA119117230600814
HP:0001332HP:0002451Limb dystonia1MRE11 CL E G H4361251347ORPHA119117230600814
HP:0001332HP:0010553Oculogyric crisis1MRE11 CL E G H4361251347ORPHA119117230600814
HP:0001332HP:0002268Paroxysmal dystonia1MRE11 CL E G H4361251347ORPHA119117230600814
HP:0001332HP:0001304Torsion dystonia1MRE11 CL E G H4361251347ORPHA119117230600814
HP:0001332HP:0002530Axial dystonia1MRE11 CL E G H4361604391Ataxia-telangiectasia-like disorder 1604391C1858391OMIM119117230600814
HP:0001332HP:0004373Focal dystonia1MRE11 CL E G H4361604391Ataxia-telangiectasia-like disorder 1604391C1858391OMIM119117230600814
HP:0001332HP:0007325Generalized dystonia1MRE11 CL E G H4361604391Ataxia-telangiectasia-like disorder 1604391C1858391OMIM119117230600814
HP:0001332HP:0032005Hemidystonia1MRE11 CL E G H4361604391Ataxia-telangiectasia-like disorder 1604391C1858391OMIM119117230600814
HP:0001332HP:0002451Limb dystonia1MRE11 CL E G H4361604391Ataxia-telangiectasia-like disorder 1604391C1858391OMIM119117230600814
HP:0001332HP:0010553Oculogyric crisis1MRE11 CL E G H4361604391Ataxia-telangiectasia-like disorder 1604391C1858391OMIM119117230600814
HP:0001332HP:0002268Paroxysmal dystonia1MRE11 CL E G H4361604391Ataxia-telangiectasia-like disorder 1604391C1858391OMIM119117230600814
HP:0001332HP:0001304Torsion dystonia1MRE11 CL E G H4361604391Ataxia-telangiectasia-like disorder 1604391C1858391OMIM119117230600814
HP:0001332HP:0002530Axial dystonia1MRPS34 CL E G H65993617664COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 32617664C4540029OMIM113816618611994
HP:0001332HP:0004373Focal dystonia1MRPS34 CL E G H65993617664COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 32617664C4540029OMIM113816618611994
HP:0001332HP:0007325Generalized dystonia1MRPS34 CL E G H65993617664COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 32617664C4540029OMIM113816618611994
HP:0001332HP:0032005Hemidystonia1MRPS34 CL E G H65993617664COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 32617664C4540029OMIM113816618611994
HP:0001332HP:0002451Limb dystonia1MRPS34 CL E G H65993617664COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 32617664C4540029OMIM113816618611994
HP:0001332HP:0010553Oculogyric crisis1MRPS34 CL E G H65993617664COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 32617664C4540029OMIM113816618611994
HP:0001332HP:0002268Paroxysmal dystonia1MRPS34 CL E G H65993617664COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 32617664C4540029OMIM113816618611994
HP:0001332HP:0001304Torsion dystonia1MRPS34 CL E G H65993617664COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 32617664C4540029OMIM113816618611994
HP:0001332HP:0002530Axial dystonia1MT-ATP6 CL E G H4508225154ORPHA17414516060
HP:0001332HP:0004373Focal dystonia1MT-ATP6 CL E G H4508225154ORPHA17414516060
HP:0001332HP:0007325Generalized dystonia1MT-ATP6 CL E G H4508225154ORPHA17414516060
HP:0001332HP:0032005Hemidystonia1MT-ATP6 CL E G H4508225154ORPHA17414516060
HP:0001332HP:0002451Limb dystonia1MT-ATP6 CL E G H4508225154ORPHA17414516060
HP:0001332HP:0010553Oculogyric crisis1MT-ATP6 CL E G H4508225154ORPHA17414516060
HP:0001332HP:0002268Paroxysmal dystonia1MT-ATP6 CL E G H4508225154ORPHA17414516060
HP:0001332HP:0001304Torsion dystonia1MT-ATP6 CL E G H4508225154ORPHA17414516060
HP:0001332HP:0002530Axial dystonia1MT-ATP6 CL E G H4508535000Leber's optic atrophy535000C0917796OMIM17414516060
HP:0001332HP:0004373Focal dystonia1MT-ATP6 CL E G H4508535000Leber's optic atrophy535000C0917796OMIM17414516060
HP:0001332HP:0007325Generalized dystonia1MT-ATP6 CL E G H4508535000Leber's optic atrophy535000C0917796OMIM17414516060
HP:0001332HP:0032005Hemidystonia1MT-ATP6 CL E G H4508535000Leber's optic atrophy535000C0917796OMIM17414516060
HP:0001332HP:0002451Limb dystonia1MT-ATP6 CL E G H4508535000Leber's optic atrophy535000C0917796OMIM17414516060
HP:0001332HP:0010553Oculogyric crisis1MT-ATP6 CL E G H4508535000Leber's optic atrophy535000C0917796OMIM17414516060
HP:0001332HP:0002268Paroxysmal dystonia1MT-ATP6 CL E G H4508535000Leber's optic atrophy535000C0917796OMIM17414516060
HP:0001332HP:0001304Torsion dystonia1MT-ATP6 CL E G H4508535000Leber's optic atrophy535000C0917796OMIM17414516060
HP:0001332HP:0002530Axial dystonia1MT-CO3 CL E G H4514535000Leber's optic atrophy535000C0917796OMIM17422516050
HP:0001332HP:0004373Focal dystonia1MT-CO3 CL E G H4514535000Leber's optic atrophy535000C0917796OMIM17422516050
HP:0001332HP:0007325Generalized dystonia1MT-CO3 CL E G H4514535000Leber's optic atrophy535000C0917796OMIM17422516050
HP:0001332HP:0032005Hemidystonia1MT-CO3 CL E G H4514535000Leber's optic atrophy535000C0917796OMIM17422516050
HP:0001332HP:0002451Limb dystonia1MT-CO3 CL E G H4514535000Leber's optic atrophy535000C0917796OMIM17422516050
HP:0001332HP:0010553Oculogyric crisis1MT-CO3 CL E G H4514535000Leber's optic atrophy535000C0917796OMIM17422516050
HP:0001332HP:0002268Paroxysmal dystonia1MT-CO3 CL E G H4514535000Leber's optic atrophy535000C0917796OMIM17422516050
HP:0001332HP:0001304Torsion dystonia1MT-CO3 CL E G H4514535000Leber's optic atrophy535000C0917796OMIM17422516050
HP:0001332HP:0002530Axial dystonia1MT-CYB CL E G H4519535000Leber's optic atrophy535000C0917796OMIM17427516020
HP:0001332HP:0004373Focal dystonia1MT-CYB CL E G H4519535000Leber's optic atrophy535000C0917796OMIM17427516020
HP:0001332HP:0007325Generalized dystonia1MT-CYB CL E G H4519535000Leber's optic atrophy535000C0917796OMIM17427516020
HP:0001332HP:0032005Hemidystonia1MT-CYB CL E G H4519535000Leber's optic atrophy535000C0917796OMIM17427516020
HP:0001332HP:0002451Limb dystonia1MT-CYB CL E G H4519535000Leber's optic atrophy535000C0917796OMIM17427516020
HP:0001332HP:0010553Oculogyric crisis1MT-CYB CL E G H4519535000Leber's optic atrophy535000C0917796OMIM17427516020
HP:0001332HP:0002268Paroxysmal dystonia1MT-CYB CL E G H4519535000Leber's optic atrophy535000C0917796OMIM17427516020
HP:0001332HP:0001304Torsion dystonia1MT-CYB CL E G H4519535000Leber's optic atrophy535000C0917796OMIM17427516020
HP:0001332HP:0002530Axial dystonia1MT-ND1 CL E G H4535535000Leber's optic atrophy535000C0917796OMIM17455516000
HP:0001332HP:0004373Focal dystonia1MT-ND1 CL E G H4535535000Leber's optic atrophy535000C0917796OMIM17455516000
HP:0001332HP:0007325Generalized dystonia1MT-ND1 CL E G H4535535000Leber's optic atrophy535000C0917796OMIM17455516000
HP:0001332HP:0032005Hemidystonia1MT-ND1 CL E G H4535535000Leber's optic atrophy535000C0917796OMIM17455516000
HP:0001332HP:0002451Limb dystonia1MT-ND1 CL E G H4535535000Leber's optic atrophy535000C0917796OMIM17455516000
HP:0001332HP:0010553Oculogyric crisis1MT-ND1 CL E G H4535535000Leber's optic atrophy535000C0917796OMIM17455516000
HP:0001332HP:0002268Paroxysmal dystonia1MT-ND1 CL E G H4535535000Leber's optic atrophy535000C0917796OMIM17455516000
HP:0001332HP:0001304Torsion dystonia1MT-ND1 CL E G H4535535000Leber's optic atrophy535000C0917796OMIM17455516000
HP:0001332HP:0002530Axial dystonia1MT-ND2 CL E G H4536535000Leber's optic atrophy535000C0917796OMIM17456516001
HP:0001332HP:0004373Focal dystonia1MT-ND2 CL E G H4536535000Leber's optic atrophy535000C0917796OMIM17456516001
HP:0001332HP:0007325Generalized dystonia1MT-ND2 CL E G H4536535000Leber's optic atrophy535000C0917796OMIM17456516001
HP:0001332HP:0032005Hemidystonia1MT-ND2 CL E G H4536535000Leber's optic atrophy535000C0917796OMIM17456516001
HP:0001332HP:0002451Limb dystonia1MT-ND2 CL E G H4536535000Leber's optic atrophy535000C0917796OMIM17456516001
HP:0001332HP:0010553Oculogyric crisis1MT-ND2 CL E G H4536535000Leber's optic atrophy535000C0917796OMIM17456516001
HP:0001332HP:0002268Paroxysmal dystonia1MT-ND2 CL E G H4536535000Leber's optic atrophy535000C0917796OMIM17456516001
HP:0001332HP:0001304Torsion dystonia1MT-ND2 CL E G H4536535000Leber's optic atrophy535000C0917796OMIM17456516001
HP:0001332HP:0002530Axial dystonia1MT-ND4 CL E G H4538535000Leber's optic atrophy535000C0917796OMIM17459516003
HP:0001332HP:0004373Focal dystonia1MT-ND4 CL E G H4538535000Leber's optic atrophy535000C0917796OMIM17459516003
HP:0001332HP:0007325Generalized dystonia1MT-ND4 CL E G H4538535000Leber's optic atrophy535000C0917796OMIM17459516003
HP:0001332HP:0032005Hemidystonia1MT-ND4 CL E G H4538535000Leber's optic atrophy535000C0917796OMIM17459516003
HP:0001332HP:0002451Limb dystonia1MT-ND4 CL E G H4538535000Leber's optic atrophy535000C0917796OMIM17459516003
HP:0001332HP:0010553Oculogyric crisis1MT-ND4 CL E G H4538535000Leber's optic atrophy535000C0917796OMIM17459516003
HP:0001332HP:0002268Paroxysmal dystonia1MT-ND4 CL E G H4538535000Leber's optic atrophy535000C0917796OMIM17459516003
HP:0001332HP:0001304Torsion dystonia1MT-ND4 CL E G H4538535000Leber's optic atrophy535000C0917796OMIM17459516003
HP:0001332HP:0002530Axial dystonia1MT-ND4L CL E G H4539535000Leber's optic atrophy535000C0917796OMIM17460516004
HP:0001332HP:0004373Focal dystonia1MT-ND4L CL E G H4539535000Leber's optic atrophy535000C0917796OMIM17460516004
HP:0001332HP:0007325Generalized dystonia1MT-ND4L CL E G H4539535000Leber's optic atrophy535000C0917796OMIM17460516004
HP:0001332HP:0032005Hemidystonia1MT-ND4L CL E G H4539535000Leber's optic atrophy535000C0917796OMIM17460516004
HP:0001332HP:0002451Limb dystonia1MT-ND4L CL E G H4539535000Leber's optic atrophy535000C0917796OMIM17460516004
HP:0001332HP:0010553Oculogyric crisis1MT-ND4L CL E G H4539535000Leber's optic atrophy535000C0917796OMIM17460516004
HP:0001332HP:0002268Paroxysmal dystonia1MT-ND4L CL E G H4539535000Leber's optic atrophy535000C0917796OMIM17460516004
HP:0001332HP:0001304Torsion dystonia1MT-ND4L CL E G H4539535000Leber's optic atrophy535000C0917796OMIM17460516004
HP:0001332HP:0002530Axial dystonia1MT-ND5 CL E G H4540535000Leber's optic atrophy535000C0917796OMIM17461516005
HP:0001332HP:0004373Focal dystonia1MT-ND5 CL E G H4540535000Leber's optic atrophy535000C0917796OMIM17461516005
HP:0001332HP:0007325Generalized dystonia1MT-ND5 CL E G H4540535000Leber's optic atrophy535000C0917796OMIM17461516005
HP:0001332HP:0032005Hemidystonia1MT-ND5 CL E G H4540535000Leber's optic atrophy535000C0917796OMIM17461516005
HP:0001332HP:0002451Limb dystonia1MT-ND5 CL E G H4540535000Leber's optic atrophy535000C0917796OMIM17461516005
HP:0001332HP:0010553Oculogyric crisis1MT-ND5 CL E G H4540535000Leber's optic atrophy535000C0917796OMIM17461516005
HP:0001332HP:0002268Paroxysmal dystonia1MT-ND5 CL E G H4540535000Leber's optic atrophy535000C0917796OMIM17461516005
HP:0001332HP:0001304Torsion dystonia1MT-ND5 CL E G H4540535000Leber's optic atrophy535000C0917796OMIM17461516005
HP:0001332HP:0002530Axial dystonia1MT-ND6 CL E G H4541535000Leber's optic atrophy535000C0917796OMIM17462516006
HP:0001332HP:0004373Focal dystonia1MT-ND6 CL E G H4541535000Leber's optic atrophy535000C0917796OMIM17462516006
HP:0001332HP:0007325Generalized dystonia1MT-ND6 CL E G H4541535000Leber's optic atrophy535000C0917796OMIM17462516006
HP:0001332HP:0032005Hemidystonia1MT-ND6 CL E G H4541535000Leber's optic atrophy535000C0917796OMIM17462516006
HP:0001332HP:0002451Limb dystonia1MT-ND6 CL E G H4541535000Leber's optic atrophy535000C0917796OMIM17462516006
HP:0001332HP:0010553Oculogyric crisis1MT-ND6 CL E G H4541535000Leber's optic atrophy535000C0917796OMIM17462516006
HP:0001332HP:0002268Paroxysmal dystonia1MT-ND6 CL E G H4541535000Leber's optic atrophy535000C0917796OMIM17462516006
HP:0001332HP:0001304Torsion dystonia1MT-ND6 CL E G H4541535000Leber's optic atrophy535000C0917796OMIM17462516006
HP:0001332HP:0002530Axial dystonia1MTFMT CL E G H123263255241ORPHA124329666611766
HP:0001332HP:0004373Focal dystonia1MTFMT CL E G H123263255241ORPHA124329666611766
HP:0001332HP:0007325Generalized dystonia1MTFMT CL E G H123263255241ORPHA124329666611766
HP:0001332HP:0032005Hemidystonia1MTFMT CL E G H123263255241ORPHA124329666611766
HP:0001332HP:0002451Limb dystonia1MTFMT CL E G H123263255241ORPHA124329666611766
HP:0001332HP:0010553Oculogyric crisis1MTFMT CL E G H123263255241ORPHA124329666611766
HP:0001332HP:0002268Paroxysmal dystonia1MTFMT CL E G H123263255241ORPHA124329666611766
HP:0001332HP:0001304Torsion dystonia1MTFMT CL E G H123263255241ORPHA124329666611766
HP:0001332HP:0002530Axial dystonia1NADK2 CL E G H133686431361ORPHA122126404615787
HP:0001332HP:0004373Focal dystonia1NADK2 CL E G H133686431361ORPHA122126404615787
HP:0001332HP:0007325Generalized dystonia1NADK2 CL E G H133686431361ORPHA122126404615787
HP:0001332HP:0032005Hemidystonia1NADK2 CL E G H133686431361ORPHA122126404615787
HP:0001332HP:0002451Limb dystonia1NADK2 CL E G H133686431361ORPHA122126404615787
HP:0001332HP:0010553Oculogyric crisis1NADK2 CL E G H133686431361ORPHA122126404615787
HP:0001332HP:0002268Paroxysmal dystonia1NADK2 CL E G H133686431361ORPHA122126404615787
HP:0001332HP:0001304Torsion dystonia1NADK2 CL E G H133686431361ORPHA122126404615787
HP:0001332HP:0002530Axial dystonia1NADK2 CL E G H1336866160342,4-Dienoyl-CoA reductase deficiency616034C1857252OMIM122126404615787
HP:0001332HP:0004373Focal dystonia1NADK2 CL E G H1336866160342,4-Dienoyl-CoA reductase deficiency616034C1857252OMIM122126404615787
HP:0001332HP:0007325Generalized dystonia1NADK2 CL E G H1336866160342,4-Dienoyl-CoA reductase deficiency616034C1857252OMIM122126404615787
HP:0001332HP:0032005Hemidystonia1NADK2 CL E G H1336866160342,4-Dienoyl-CoA reductase deficiency616034C1857252OMIM122126404615787
HP:0001332HP:0002451Limb dystonia1NADK2 CL E G H1336866160342,4-Dienoyl-CoA reductase deficiency616034C1857252OMIM122126404615787
HP:0001332HP:0010553Oculogyric crisis1NADK2 CL E G H1336866160342,4-Dienoyl-CoA reductase deficiency616034C1857252OMIM122126404615787
HP:0001332HP:0002268Paroxysmal dystonia1NADK2 CL E G H1336866160342,4-Dienoyl-CoA reductase deficiency616034C1857252OMIM122126404615787
HP:0001332HP:0001304Torsion dystonia1NADK2 CL E G H1336866160342,4-Dienoyl-CoA reductase deficiency616034C1857252OMIM122126404615787
HP:0001332HP:0002530Axial dystonia1NDUFA10 CL E G H4705255241ORPHA14217684603835
HP:0001332HP:0004373Focal dystonia1NDUFA10 CL E G H4705255241ORPHA14217684603835
HP:0001332HP:0007325Generalized dystonia1NDUFA10 CL E G H4705255241ORPHA14217684603835
HP:0001332HP:0032005Hemidystonia1NDUFA10 CL E G H4705255241ORPHA14217684603835
HP:0001332HP:0002451Limb dystonia1NDUFA10 CL E G H4705255241ORPHA14217684603835
HP:0001332HP:0010553Oculogyric crisis1NDUFA10 CL E G H4705255241ORPHA14217684603835
HP:0001332HP:0002268Paroxysmal dystonia1NDUFA10 CL E G H4705255241ORPHA14217684603835
HP:0001332HP:0001304Torsion dystonia1NDUFA10 CL E G H4705255241ORPHA14217684603835
HP:0001332HP:0002530Axial dystonia1NDUFA12 CL E G H55967255241ORPHA19223987614530
HP:0001332HP:0004373Focal dystonia1NDUFA12 CL E G H55967255241ORPHA19223987614530
HP:0001332HP:0007325Generalized dystonia1NDUFA12 CL E G H55967255241ORPHA19223987614530
HP:0001332HP:0032005Hemidystonia1NDUFA12 CL E G H55967255241ORPHA19223987614530
HP:0001332HP:0002451Limb dystonia1NDUFA12 CL E G H55967255241ORPHA19223987614530
HP:0001332HP:0010553Oculogyric crisis1NDUFA12 CL E G H55967255241ORPHA19223987614530
HP:0001332HP:0002268Paroxysmal dystonia1NDUFA12 CL E G H55967255241ORPHA19223987614530
HP:0001332HP:0001304Torsion dystonia1NDUFA12 CL E G H55967255241ORPHA19223987614530
HP:0001332HP:0002530Axial dystonia1NDUFA12 CL E G H55967618244MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 23618244OMIM19223987614530
HP:0001332HP:0004373Focal dystonia1NDUFA12 CL E G H55967618244MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 23618244OMIM19223987614530
HP:0001332HP:0007325Generalized dystonia1NDUFA12 CL E G H55967618244MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 23618244OMIM19223987614530
HP:0001332HP:0032005Hemidystonia1NDUFA12 CL E G H55967618244MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 23618244OMIM19223987614530
HP:0001332HP:0002451Limb dystonia1NDUFA12 CL E G H55967618244MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 23618244OMIM19223987614530
HP:0001332HP:0010553Oculogyric crisis1NDUFA12 CL E G H55967618244MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 23618244OMIM19223987614530
HP:0001332HP:0002268Paroxysmal dystonia1NDUFA12 CL E G H55967618244MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 23618244OMIM19223987614530
HP:0001332HP:0001304Torsion dystonia1NDUFA12 CL E G H55967618244MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 23618244OMIM19223987614530
HP:0001332HP:0002530Axial dystonia1NDUFA13 CL E G H51079255241ORPHA16517194609435
HP:0001332HP:0004373Focal dystonia1NDUFA13 CL E G H51079255241ORPHA16517194609435
HP:0001332HP:0007325Generalized dystonia1NDUFA13 CL E G H51079255241ORPHA16517194609435
HP:0001332HP:0032005Hemidystonia1NDUFA13 CL E G H51079255241ORPHA16517194609435
HP:0001332HP:0002451Limb dystonia1NDUFA13 CL E G H51079255241ORPHA16517194609435
HP:0001332HP:0010553Oculogyric crisis1NDUFA13 CL E G H51079255241ORPHA16517194609435
HP:0001332HP:0002268Paroxysmal dystonia1NDUFA13 CL E G H51079255241ORPHA16517194609435
HP:0001332HP:0001304Torsion dystonia1NDUFA13 CL E G H51079255241ORPHA16517194609435
HP:0001332HP:0002530Axial dystonia1NDUFA2 CL E G H4695255241ORPHA1957685602137
HP:0001332HP:0004373Focal dystonia1NDUFA2 CL E G H4695255241ORPHA1957685602137
HP:0001332HP:0007325Generalized dystonia1NDUFA2 CL E G H4695255241ORPHA1957685602137
HP:0001332HP:0032005Hemidystonia1NDUFA2 CL E G H4695255241ORPHA1957685602137
HP:0001332HP:0002451Limb dystonia1NDUFA2 CL E G H4695255241ORPHA1957685602137
HP:0001332HP:0010553Oculogyric crisis1NDUFA2 CL E G H4695255241ORPHA1957685602137
HP:0001332HP:0002268Paroxysmal dystonia1NDUFA2 CL E G H4695255241ORPHA1957685602137
HP:0001332HP:0001304Torsion dystonia1NDUFA2 CL E G H4695255241ORPHA1957685602137
HP:0001332HP:0002530Axial dystonia1NDUFA4 CL E G H4697255241ORPHA1967687603833
HP:0001332HP:0004373Focal dystonia1NDUFA4 CL E G H4697255241ORPHA1967687603833
HP:0001332HP:0007325Generalized dystonia1NDUFA4 CL E G H4697255241ORPHA1967687603833
HP:0001332HP:0032005Hemidystonia1NDUFA4 CL E G H4697255241ORPHA1967687603833
HP:0001332HP:0002451Limb dystonia1NDUFA4 CL E G H4697255241ORPHA1967687603833
HP:0001332HP:0010553Oculogyric crisis1NDUFA4 CL E G H4697255241ORPHA1967687603833
HP:0001332HP:0002268Paroxysmal dystonia1NDUFA4 CL E G H4697255241ORPHA1967687603833
HP:0001332HP:0001304Torsion dystonia1NDUFA4 CL E G H4697255241ORPHA1967687603833
HP:0001332HP:0002530Axial dystonia1NDUFA9 CL E G H4704255241ORPHA12357693603834
HP:0001332HP:0004373Focal dystonia1NDUFA9 CL E G H4704255241ORPHA12357693603834
HP:0001332HP:0007325Generalized dystonia1NDUFA9 CL E G H4704255241ORPHA12357693603834
HP:0001332HP:0032005Hemidystonia1NDUFA9 CL E G H4704255241ORPHA12357693603834
HP:0001332HP:0002451Limb dystonia1NDUFA9 CL E G H4704255241ORPHA12357693603834
HP:0001332HP:0010553Oculogyric crisis1NDUFA9 CL E G H4704255241ORPHA12357693603834
HP:0001332HP:0002268Paroxysmal dystonia1NDUFA9 CL E G H4704255241ORPHA12357693603834
HP:0001332HP:0001304Torsion dystonia1NDUFA9 CL E G H4704255241ORPHA12357693603834
HP:0001332HP:0002530Axial dystonia1NDUFA9 CL E G H4704618247MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 26618247OMIM12357693603834
HP:0001332HP:0004373Focal dystonia1NDUFA9 CL E G H4704618247MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 26618247OMIM12357693603834
HP:0001332HP:0007325Generalized dystonia1NDUFA9 CL E G H4704618247MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 26618247OMIM12357693603834
HP:0001332HP:0032005Hemidystonia1NDUFA9 CL E G H4704618247MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 26618247OMIM12357693603834
HP:0001332HP:0002451Limb dystonia1NDUFA9 CL E G H4704618247MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 26618247OMIM12357693603834
HP:0001332HP:0010553Oculogyric crisis1NDUFA9 CL E G H4704618247MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 26618247OMIM12357693603834
HP:0001332HP:0002268Paroxysmal dystonia1NDUFA9 CL E G H4704618247MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 26618247OMIM12357693603834
HP:0001332HP:0001304Torsion dystonia1NDUFA9 CL E G H4704618247MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 26618247OMIM12357693603834
HP:0001332HP:0002530Axial dystonia1NDUFAF2 CL E G H91942255241ORPHA113228086609653
HP:0001332HP:0004373Focal dystonia1NDUFAF2 CL E G H91942255241ORPHA113228086609653
HP:0001332HP:0007325Generalized dystonia1NDUFAF2 CL E G H91942255241ORPHA113228086609653
HP:0001332HP:0032005Hemidystonia1NDUFAF2 CL E G H91942255241ORPHA113228086609653
HP:0001332HP:0002451Limb dystonia1NDUFAF2 CL E G H91942255241ORPHA113228086609653
HP:0001332HP:0010553Oculogyric crisis1NDUFAF2 CL E G H91942255241ORPHA113228086609653
HP:0001332HP:0002268Paroxysmal dystonia1NDUFAF2 CL E G H91942255241ORPHA113228086609653
HP:0001332HP:0001304Torsion dystonia1NDUFAF2 CL E G H91942255241ORPHA113228086609653
HP:0001332HP:0002530Axial dystonia1NDUFAF4 CL E G H29078618237MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 15618237OMIM113621034611776
HP:0001332HP:0004373Focal dystonia1NDUFAF4 CL E G H29078618237MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 15618237OMIM113621034611776
HP:0001332HP:0007325Generalized dystonia1NDUFAF4 CL E G H29078618237MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 15618237OMIM113621034611776
HP:0001332HP:0032005Hemidystonia1NDUFAF4 CL E G H29078618237MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 15618237OMIM113621034611776
HP:0001332HP:0002451Limb dystonia1NDUFAF4 CL E G H29078618237MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 15618237OMIM113621034611776
HP:0001332HP:0010553Oculogyric crisis1NDUFAF4 CL E G H29078618237MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 15618237OMIM113621034611776
HP:0001332HP:0002268Paroxysmal dystonia1NDUFAF4 CL E G H29078618237MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 15618237OMIM113621034611776
HP:0001332HP:0001304Torsion dystonia1NDUFAF4 CL E G H29078618237MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 15618237OMIM113621034611776
HP:0001332HP:0002530Axial dystonia1NDUFAF5 CL E G H79133255241ORPHA138315899612360
HP:0001332HP:0004373Focal dystonia1NDUFAF5 CL E G H79133255241ORPHA138315899612360
HP:0001332HP:0007325Generalized dystonia1NDUFAF5 CL E G H79133255241ORPHA138315899612360
HP:0001332HP:0032005Hemidystonia1NDUFAF5 CL E G H79133255241ORPHA138315899612360
HP:0001332HP:0002451Limb dystonia1NDUFAF5 CL E G H79133255241ORPHA138315899612360
HP:0001332HP:0010553Oculogyric crisis1NDUFAF5 CL E G H79133255241ORPHA138315899612360
HP:0001332HP:0002268Paroxysmal dystonia1NDUFAF5 CL E G H79133255241ORPHA138315899612360
HP:0001332HP:0001304Torsion dystonia1NDUFAF5 CL E G H79133255241ORPHA138315899612360
HP:0001332HP:0002530Axial dystonia1NDUFAF5 CL E G H79133618238MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 16618238OMIM138315899612360
HP:0001332HP:0004373Focal dystonia1NDUFAF5 CL E G H79133618238MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 16618238OMIM138315899612360
HP:0001332HP:0007325Generalized dystonia1NDUFAF5 CL E G H79133618238MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 16618238OMIM138315899612360
HP:0001332HP:0032005Hemidystonia1NDUFAF5 CL E G H79133618238MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 16618238OMIM138315899612360
HP:0001332HP:0002451Limb dystonia1NDUFAF5 CL E G H79133618238MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 16618238OMIM138315899612360
HP:0001332HP:0010553Oculogyric crisis1NDUFAF5 CL E G H79133618238MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 16618238OMIM138315899612360
HP:0001332HP:0002268Paroxysmal dystonia1NDUFAF5 CL E G H79133618238MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 16618238OMIM138315899612360
HP:0001332HP:0001304Torsion dystonia1NDUFAF5 CL E G H79133618238MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 16618238OMIM138315899612360
HP:0001332HP:0002530Axial dystonia1NDUFAF6 CL E G H137682255241ORPHA128128625612392
HP:0001332HP:0004373Focal dystonia1NDUFAF6 CL E G H137682255241ORPHA128128625612392
HP:0001332HP:0007325Generalized dystonia1NDUFAF6 CL E G H137682255241ORPHA128128625612392
HP:0001332HP:0032005Hemidystonia1NDUFAF6 CL E G H137682255241ORPHA128128625612392
HP:0001332HP:0002451Limb dystonia1NDUFAF6 CL E G H137682255241ORPHA128128625612392
HP:0001332HP:0010553Oculogyric crisis1NDUFAF6 CL E G H137682255241ORPHA128128625612392
HP:0001332HP:0002268Paroxysmal dystonia1NDUFAF6 CL E G H137682255241ORPHA128128625612392
HP:0001332HP:0001304Torsion dystonia1NDUFAF6 CL E G H137682255241ORPHA128128625612392
HP:0001332HP:0002530Axial dystonia1NDUFAF6 CL E G H137682618239MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 17618239OMIM128128625612392
HP:0001332HP:0004373Focal dystonia1NDUFAF6 CL E G H137682618239MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 17618239OMIM128128625612392
HP:0001332HP:0007325Generalized dystonia1NDUFAF6 CL E G H137682618239MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 17618239OMIM128128625612392
HP:0001332HP:0032005Hemidystonia1NDUFAF6 CL E G H137682618239MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 17618239OMIM128128625612392
HP:0001332HP:0002451Limb dystonia1NDUFAF6 CL E G H137682618239MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 17618239OMIM128128625612392
HP:0001332HP:0010553Oculogyric crisis1NDUFAF6 CL E G H137682618239MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 17618239OMIM128128625612392
HP:0001332HP:0002268Paroxysmal dystonia1NDUFAF6 CL E G H137682618239MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 17618239OMIM128128625612392
HP:0001332HP:0001304Torsion dystonia1NDUFAF6 CL E G H137682618239MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 17618239OMIM128128625612392
HP:0001332HP:0002530Axial dystonia1NDUFS1 CL E G H4719255241ORPHA14247707157655
HP:0001332HP:0004373Focal dystonia1NDUFS1 CL E G H4719255241ORPHA14247707157655
HP:0001332HP:0007325Generalized dystonia1NDUFS1 CL E G H4719255241ORPHA14247707157655
HP:0001332HP:0032005Hemidystonia1NDUFS1 CL E G H4719255241ORPHA14247707157655
HP:0001332HP:0002451Limb dystonia1NDUFS1 CL E G H4719255241ORPHA14247707157655
HP:0001332HP:0010553Oculogyric crisis1NDUFS1 CL E G H4719255241ORPHA14247707157655
HP:0001332HP:0002268Paroxysmal dystonia1NDUFS1 CL E G H4719255241ORPHA14247707157655
HP:0001332HP:0001304Torsion dystonia1NDUFS1 CL E G H4719255241ORPHA14247707157655
HP:0001332HP:0002530Axial dystonia1NDUFS1 CL E G H4719618226MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 5618226OMIM14247707157655
HP:0001332HP:0004373Focal dystonia1NDUFS1 CL E G H4719618226MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 5618226OMIM14247707157655
HP:0001332HP:0007325Generalized dystonia1NDUFS1 CL E G H4719618226MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 5618226OMIM14247707157655
HP:0001332HP:0032005Hemidystonia1NDUFS1 CL E G H4719618226MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 5618226OMIM14247707157655
HP:0001332HP:0002451Limb dystonia1NDUFS1 CL E G H4719618226MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 5618226OMIM14247707157655
HP:0001332HP:0010553Oculogyric crisis1NDUFS1 CL E G H4719618226MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 5618226OMIM14247707157655
HP:0001332HP:0002268Paroxysmal dystonia1NDUFS1 CL E G H4719618226MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 5618226OMIM14247707157655
HP:0001332HP:0001304Torsion dystonia1NDUFS1 CL E G H4719618226MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 5618226OMIM14247707157655
HP:0001332HP:0002530Axial dystonia1NDUFS2 CL E G H4720255241ORPHA12477708602985
HP:0001332HP:0004373Focal dystonia1NDUFS2 CL E G H4720255241ORPHA12477708602985
HP:0001332HP:0007325Generalized dystonia1NDUFS2 CL E G H4720255241ORPHA12477708602985
HP:0001332HP:0032005Hemidystonia1NDUFS2 CL E G H4720255241ORPHA12477708602985
HP:0001332HP:0002451Limb dystonia1NDUFS2 CL E G H4720255241ORPHA12477708602985
HP:0001332HP:0010553Oculogyric crisis1NDUFS2 CL E G H4720255241ORPHA12477708602985
HP:0001332HP:0002268Paroxysmal dystonia1NDUFS2 CL E G H4720255241ORPHA12477708602985
HP:0001332HP:0001304Torsion dystonia1NDUFS2 CL E G H4720255241ORPHA12477708602985
HP:0001332HP:0002530Axial dystonia1NDUFS3 CL E G H4722255241ORPHA11477710603846
HP:0001332HP:0004373Focal dystonia1NDUFS3 CL E G H4722255241ORPHA11477710603846
HP:0001332HP:0007325Generalized dystonia1NDUFS3 CL E G H4722255241ORPHA11477710603846
HP:0001332HP:0032005Hemidystonia1NDUFS3 CL E G H4722255241ORPHA11477710603846
HP:0001332HP:0002451Limb dystonia1NDUFS3 CL E G H4722255241ORPHA11477710603846
HP:0001332HP:0010553Oculogyric crisis1NDUFS3 CL E G H4722255241ORPHA11477710603846
HP:0001332HP:0002268Paroxysmal dystonia1NDUFS3 CL E G H4722255241ORPHA11477710603846
HP:0001332HP:0001304Torsion dystonia1NDUFS3 CL E G H4722255241ORPHA11477710603846
HP:0001332HP:0002530Axial dystonia1NDUFS3 CL E G H4722618230MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 8618230OMIM11477710603846
HP:0001332HP:0004373Focal dystonia1NDUFS3 CL E G H4722618230MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 8618230OMIM11477710603846
HP:0001332HP:0007325Generalized dystonia1NDUFS3 CL E G H4722618230MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 8618230OMIM11477710603846
HP:0001332HP:0032005Hemidystonia1NDUFS3 CL E G H4722618230MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 8618230OMIM11477710603846
HP:0001332HP:0002451Limb dystonia1NDUFS3 CL E G H4722618230MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 8618230OMIM11477710603846
HP:0001332HP:0010553Oculogyric crisis1NDUFS3 CL E G H4722618230MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 8618230OMIM11477710603846
HP:0001332HP:0002268Paroxysmal dystonia1NDUFS3 CL E G H4722618230MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 8618230OMIM11477710603846
HP:0001332HP:0001304Torsion dystonia1NDUFS3 CL E G H4722618230MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 8618230OMIM11477710603846
HP:0001332HP:0002530Axial dystonia1NDUFS4 CL E G H4724255241ORPHA11397711602694
HP:0001332HP:0004373Focal dystonia1NDUFS4 CL E G H4724255241ORPHA11397711602694
HP:0001332HP:0007325Generalized dystonia1NDUFS4 CL E G H4724255241ORPHA11397711602694
HP:0001332HP:0032005Hemidystonia1NDUFS4 CL E G H4724255241ORPHA11397711602694
HP:0001332HP:0002451Limb dystonia1NDUFS4 CL E G H4724255241ORPHA11397711602694
HP:0001332HP:0010553Oculogyric crisis1NDUFS4 CL E G H4724255241ORPHA11397711602694
HP:0001332HP:0002268Paroxysmal dystonia1NDUFS4 CL E G H4724255241ORPHA11397711602694
HP:0001332HP:0001304Torsion dystonia1NDUFS4 CL E G H4724255241ORPHA11397711602694
HP:0001332HP:0002530Axial dystonia1NDUFS7 CL E G H374291255241ORPHA12157714601825
HP:0001332HP:0004373Focal dystonia1NDUFS7 CL E G H374291255241ORPHA12157714601825
HP:0001332HP:0007325Generalized dystonia1NDUFS7 CL E G H374291255241ORPHA12157714601825
HP:0001332HP:0032005Hemidystonia1NDUFS7 CL E G H374291255241ORPHA12157714601825
HP:0001332HP:0002451Limb dystonia1NDUFS7 CL E G H374291255241ORPHA12157714601825
HP:0001332HP:0010553Oculogyric crisis1NDUFS7 CL E G H374291255241ORPHA12157714601825
HP:0001332HP:0002268Paroxysmal dystonia1NDUFS7 CL E G H374291255241ORPHA12157714601825
HP:0001332HP:0001304Torsion dystonia1NDUFS7 CL E G H374291255241ORPHA12157714601825
HP:0001332HP:0002530Axial dystonia1NDUFS7 CL E G H374291618224MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 3618224OMIM12157714601825
HP:0001332HP:0004373Focal dystonia1NDUFS7 CL E G H374291618224MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 3618224OMIM12157714601825
HP:0001332HP:0007325Generalized dystonia1NDUFS7 CL E G H374291618224MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 3618224OMIM12157714601825
HP:0001332HP:0032005Hemidystonia1NDUFS7 CL E G H374291618224MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 3618224OMIM12157714601825
HP:0001332HP:0002451Limb dystonia1NDUFS7 CL E G H374291618224MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 3618224OMIM12157714601825
HP:0001332HP:0010553Oculogyric crisis1NDUFS7 CL E G H374291618224MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 3618224OMIM12157714601825
HP:0001332HP:0002268Paroxysmal dystonia1NDUFS7 CL E G H374291618224MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 3618224OMIM12157714601825
HP:0001332HP:0001304Torsion dystonia1NDUFS7 CL E G H374291618224MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 3618224OMIM12157714601825
HP:0001332HP:0002530Axial dystonia1NDUFS8 CL E G H4728255241ORPHA11297715602141
HP:0001332HP:0004373Focal dystonia1NDUFS8 CL E G H4728255241ORPHA11297715602141
HP:0001332HP:0007325Generalized dystonia1NDUFS8 CL E G H4728255241ORPHA11297715602141
HP:0001332HP:0032005Hemidystonia1NDUFS8 CL E G H4728255241ORPHA11297715602141
HP:0001332HP:0002451Limb dystonia1NDUFS8 CL E G H4728255241ORPHA11297715602141
HP:0001332HP:0010553Oculogyric crisis1NDUFS8 CL E G H4728255241ORPHA11297715602141
HP:0001332HP:0002268Paroxysmal dystonia1NDUFS8 CL E G H4728255241ORPHA11297715602141
HP:0001332HP:0001304Torsion dystonia1NDUFS8 CL E G H4728255241ORPHA11297715602141
HP:0001332HP:0002530Axial dystonia1NDUFS8 CL E G H4728618222MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 2618222OMIM11297715602141
HP:0001332HP:0004373Focal dystonia1NDUFS8 CL E G H4728618222MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 2618222OMIM11297715602141
HP:0001332HP:0007325Generalized dystonia1NDUFS8 CL E G H4728618222MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 2618222OMIM11297715602141
HP:0001332HP:0032005Hemidystonia1NDUFS8 CL E G H4728618222MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 2618222OMIM11297715602141
HP:0001332HP:0002451Limb dystonia1NDUFS8 CL E G H4728618222MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 2618222OMIM11297715602141
HP:0001332HP:0010553Oculogyric crisis1NDUFS8 CL E G H4728618222MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 2618222OMIM11297715602141
HP:0001332HP:0002268Paroxysmal dystonia1NDUFS8 CL E G H4728618222MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 2618222OMIM11297715602141
HP:0001332HP:0001304Torsion dystonia1NDUFS8 CL E G H4728618222MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 2618222OMIM11297715602141
HP:0001332HP:0002530Axial dystonia1NDUFV1 CL E G H4723255241ORPHA13157716161015
HP:0001332HP:0004373Focal dystonia1NDUFV1 CL E G H4723255241ORPHA13157716161015
HP:0001332HP:0007325Generalized dystonia1NDUFV1 CL E G H4723255241ORPHA13157716161015
HP:0001332HP:0032005Hemidystonia1NDUFV1 CL E G H4723255241ORPHA13157716161015
HP:0001332HP:0002451Limb dystonia1NDUFV1 CL E G H4723255241ORPHA13157716161015
HP:0001332HP:0010553Oculogyric crisis1NDUFV1 CL E G H4723255241ORPHA13157716161015
HP:0001332HP:0002268Paroxysmal dystonia1NDUFV1 CL E G H4723255241ORPHA13157716161015
HP:0001332HP:0001304Torsion dystonia1NDUFV1 CL E G H4723255241ORPHA13157716161015
HP:0001332HP:0002530Axial dystonia1NDUFV2 CL E G H4729255241ORPHA12297717600532
HP:0001332HP:0004373Focal dystonia1NDUFV2 CL E G H4729255241ORPHA12297717600532
HP:0001332HP:0007325Generalized dystonia1NDUFV2 CL E G H4729255241ORPHA12297717600532
HP:0001332HP:0032005Hemidystonia1NDUFV2 CL E G H4729255241ORPHA12297717600532
HP:0001332HP:0002451Limb dystonia1NDUFV2 CL E G H4729255241ORPHA12297717600532
HP:0001332HP:0010553Oculogyric crisis1NDUFV2 CL E G H4729255241ORPHA12297717600532
HP:0001332HP:0002268Paroxysmal dystonia1NDUFV2 CL E G H4729255241ORPHA12297717600532
HP:0001332HP:0001304Torsion dystonia1NDUFV2 CL E G H4729255241ORPHA12297717600532
HP:0001332HP:0002530Axial dystonia1NHLRC2 CL E G H374354618278618278618278OMIM167247310
HP:0001332HP:0004373Focal dystonia1NHLRC2 CL E G H374354618278618278618278OMIM167247310
HP:0001332HP:0007325Generalized dystonia1NHLRC2 CL E G H374354618278618278618278OMIM167247310
HP:0001332HP:0032005Hemidystonia1NHLRC2 CL E G H374354618278618278618278OMIM167247310
HP:0001332HP:0002451Limb dystonia1NHLRC2 CL E G H374354618278618278618278OMIM167247310
HP:0001332HP:0010553Oculogyric crisis1NHLRC2 CL E G H374354618278618278618278OMIM167247310
HP:0001332HP:0002268Paroxysmal dystonia1NHLRC2 CL E G H374354618278618278618278OMIM167247310
HP:0001332HP:0001304Torsion dystonia1NHLRC2 CL E G H374354618278618278618278OMIM167247310
HP:0001332HP:0002530Axial dystonia1NKX2-1 CL E G H7080610978Choreoathetosis, hypothyroidism, and neonatal respiratory distress610978C1970269OMIM131711825600635
HP:0001332HP:0004373Focal dystonia1NKX2-1 CL E G H7080610978Choreoathetosis, hypothyroidism, and neonatal respiratory distress610978C1970269OMIM131711825600635
HP:0001332HP:0007325Generalized dystonia1NKX2-1 CL E G H7080610978Choreoathetosis, hypothyroidism, and neonatal respiratory distress610978C1970269OMIM131711825600635
HP:0001332HP:0032005Hemidystonia1NKX2-1 CL E G H7080610978Choreoathetosis, hypothyroidism, and neonatal respiratory distress610978C1970269OMIM131711825600635
HP:0001332HP:0002451Limb dystonia1NKX2-1 CL E G H7080610978Choreoathetosis, hypothyroidism, and neonatal respiratory distress610978C1970269OMIM131711825600635
HP:0001332HP:0010553Oculogyric crisis1NKX2-1 CL E G H7080610978Choreoathetosis, hypothyroidism, and neonatal respiratory distress610978C1970269OMIM131711825600635
HP:0001332HP:0002268Paroxysmal dystonia1NKX2-1 CL E G H7080610978Choreoathetosis, hypothyroidism, and neonatal respiratory distress610978C1970269OMIM131711825600635
HP:0001332HP:0001304Torsion dystonia1NKX2-1 CL E G H7080610978Choreoathetosis, hypothyroidism, and neonatal respiratory distress610978C1970269OMIM131711825600635
HP:0001332HP:0002530Axial dystonia1NKX6-2 CL E G H84504527497ORPHA123319321605955
HP:0001332HP:0004373Focal dystonia1NKX6-2 CL E G H84504527497ORPHA123319321605955
HP:0001332HP:0007325Generalized dystonia1NKX6-2 CL E G H84504527497ORPHA123319321605955
HP:0001332HP:0032005Hemidystonia1NKX6-2 CL E G H84504527497ORPHA123319321605955
HP:0001332HP:0002451Limb dystonia1NKX6-2 CL E G H84504527497ORPHA123319321605955
HP:0001332HP:0010553Oculogyric crisis1NKX6-2 CL E G H84504527497ORPHA123319321605955
HP:0001332HP:0002268Paroxysmal dystonia1NKX6-2 CL E G H84504527497ORPHA123319321605955
HP:0001332HP:0001304Torsion dystonia1NKX6-2 CL E G H84504527497ORPHA123319321605955
HP:0001332HP:0002530Axial dystonia1NKX6-2 CL E G H84504617560SPASTIC ATAXIA 8, AUTOSOMAL RECESSIVE, WITH HYPOMYELINATING LEUKODYSTROPHY617560C4479653OMIM123319321605955
HP:0001332HP:0004373Focal dystonia1NKX6-2 CL E G H84504617560SPASTIC ATAXIA 8, AUTOSOMAL RECESSIVE, WITH HYPOMYELINATING LEUKODYSTROPHY617560C4479653OMIM123319321605955
HP:0001332HP:0007325Generalized dystonia1NKX6-2 CL E G H84504617560SPASTIC ATAXIA 8, AUTOSOMAL RECESSIVE, WITH HYPOMYELINATING LEUKODYSTROPHY617560C4479653OMIM123319321605955
HP:0001332HP:0032005Hemidystonia1NKX6-2 CL E G H84504617560SPASTIC ATAXIA 8, AUTOSOMAL RECESSIVE, WITH HYPOMYELINATING LEUKODYSTROPHY617560C4479653OMIM123319321605955
HP:0001332HP:0002451Limb dystonia1NKX6-2 CL E G H84504617560SPASTIC ATAXIA 8, AUTOSOMAL RECESSIVE, WITH HYPOMYELINATING LEUKODYSTROPHY617560C4479653OMIM123319321605955
HP:0001332HP:0010553Oculogyric crisis1NKX6-2 CL E G H84504617560SPASTIC ATAXIA 8, AUTOSOMAL RECESSIVE, WITH HYPOMYELINATING LEUKODYSTROPHY617560C4479653OMIM123319321605955
HP:0001332HP:0002268Paroxysmal dystonia1NKX6-2 CL E G H84504617560SPASTIC ATAXIA 8, AUTOSOMAL RECESSIVE, WITH HYPOMYELINATING LEUKODYSTROPHY617560C4479653OMIM123319321605955
HP:0001332HP:0001304Torsion dystonia1NKX6-2 CL E G H84504617560SPASTIC ATAXIA 8, AUTOSOMAL RECESSIVE, WITH HYPOMYELINATING LEUKODYSTROPHY617560C4479653OMIM123319321605955
HP:0001332HP:0002530Axial dystonia1NPC1 CL E G H4864257220Niemann-Pick disease type C1257220C3179455OMIM121097897607623
HP:0001332HP:0004373Focal dystonia1NPC1 CL E G H4864257220Niemann-Pick disease type C1257220C3179455OMIM121097897607623
HP:0001332HP:0007325Generalized dystonia1NPC1 CL E G H4864257220Niemann-Pick disease type C1257220C3179455OMIM121097897607623
HP:0001332HP:0032005Hemidystonia1NPC1 CL E G H4864257220Niemann-Pick disease type C1257220C3179455OMIM121097897607623
HP:0001332HP:0002451Limb dystonia1NPC1 CL E G H4864257220Niemann-Pick disease type C1257220C3179455OMIM121097897607623
HP:0001332HP:0010553Oculogyric crisis1NPC1 CL E G H4864257220Niemann-Pick disease type C1257220C3179455OMIM121097897607623
HP:0001332HP:0002268Paroxysmal dystonia1NPC1 CL E G H4864257220Niemann-Pick disease type C1257220C3179455OMIM121097897607623
HP:0001332HP:0001304Torsion dystonia1NPC1 CL E G H4864257220Niemann-Pick disease type C1257220C3179455OMIM121097897607623
HP:0001332HP:0002530Axial dystonia1NPC2 CL E G H10577607625Niemann-Pick disease type C2607625C1843366OMIM123214537601015
HP:0001332HP:0004373Focal dystonia1NPC2 CL E G H10577607625Niemann-Pick disease type C2607625C1843366OMIM123214537601015
HP:0001332HP:0007325Generalized dystonia1NPC2 CL E G H10577607625Niemann-Pick disease type C2607625C1843366OMIM123214537601015
HP:0001332HP:0032005Hemidystonia1NPC2 CL E G H10577607625Niemann-Pick disease type C2607625C1843366OMIM123214537601015
HP:0001332HP:0002451Limb dystonia1NPC2 CL E G H10577607625Niemann-Pick disease type C2607625C1843366OMIM123214537601015
HP:0001332HP:0010553Oculogyric crisis1NPC2 CL E G H10577607625Niemann-Pick disease type C2607625C1843366OMIM123214537601015
HP:0001332HP:0002268Paroxysmal dystonia1NPC2 CL E G H10577607625Niemann-Pick disease type C2607625C1843366OMIM123214537601015
HP:0001332HP:0001304Torsion dystonia1NPC2 CL E G H10577607625Niemann-Pick disease type C2607625C1843366OMIM123214537601015
HP:0001332HP:0002530Axial dystonia1NR4A2 CL E G H4929168600Parkinson disease, late-onset168600C3160718OMIM11437981601828
HP:0001332HP:0004373Focal dystonia1NR4A2 CL E G H4929168600Parkinson disease, late-onset168600C3160718OMIM11437981601828
HP:0001332HP:0007325Generalized dystonia1NR4A2 CL E G H4929168600Parkinson disease, late-onset168600C3160718OMIM11437981601828
HP:0001332HP:0032005Hemidystonia1NR4A2 CL E G H4929168600Parkinson disease, late-onset168600C3160718OMIM11437981601828
HP:0001332HP:0002451Limb dystonia1NR4A2 CL E G H4929168600Parkinson disease, late-onset168600C3160718OMIM11437981601828
HP:0001332HP:0010553Oculogyric crisis1NR4A2 CL E G H4929168600Parkinson disease, late-onset168600C3160718OMIM11437981601828
HP:0001332HP:0002268Paroxysmal dystonia1NR4A2 CL E G H4929168600Parkinson disease, late-onset168600C3160718OMIM11437981601828
HP:0001332HP:0001304Torsion dystonia1NR4A2 CL E G H4929168600Parkinson disease, late-onset168600C3160718OMIM11437981601828
HP:0001332HP:0002530Axial dystonia1NUP62 CL E G H23636225154ORPHA11618066605815
HP:0001332HP:0004373Focal dystonia1NUP62 CL E G H23636225154ORPHA11618066605815
HP:0001332HP:0007325Generalized dystonia1NUP62 CL E G H23636225154ORPHA11618066605815
HP:0001332HP:0032005Hemidystonia1NUP62 CL E G H23636225154ORPHA11618066605815
HP:0001332HP:0002451Limb dystonia1NUP62 CL E G H23636225154ORPHA11618066605815
HP:0001332HP:0010553Oculogyric crisis1NUP62 CL E G H23636225154ORPHA11618066605815
HP:0001332HP:0002268Paroxysmal dystonia1NUP62 CL E G H23636225154ORPHA11618066605815
HP:0001332HP:0001304Torsion dystonia1NUP62 CL E G H23636225154ORPHA11618066605815
HP:0001332HP:0002530Axial dystonia1NUP62 CL E G H23636271930Striatonigral degeneration infantile271930C0795996OMIM11618066605815
HP:0001332HP:0004373Focal dystonia1NUP62 CL E G H23636271930Striatonigral degeneration infantile271930C0795996OMIM11618066605815
HP:0001332HP:0007325Generalized dystonia1NUP62 CL E G H23636271930Striatonigral degeneration infantile271930C0795996OMIM11618066605815
HP:0001332HP:0032005Hemidystonia1NUP62 CL E G H23636271930Striatonigral degeneration infantile271930C0795996OMIM11618066605815
HP:0001332HP:0002451Limb dystonia1NUP62 CL E G H23636271930Striatonigral degeneration infantile271930C0795996OMIM11618066605815
HP:0001332HP:0010553Oculogyric crisis1NUP62 CL E G H23636271930Striatonigral degeneration infantile271930C0795996OMIM11618066605815
HP:0001332HP:0002268Paroxysmal dystonia1NUP62 CL E G H23636271930Striatonigral degeneration infantile271930C0795996OMIM11618066605815
HP:0001332HP:0001304Torsion dystonia1NUP62 CL E G H23636271930Striatonigral degeneration infantile271930C0795996OMIM11618066605815
HP:0001332HP:0002530Axial dystonia1PANK2 CL E G H80025607236Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration607236C1846582OMIM149915894606157
HP:0001332HP:0004373Focal dystonia1PANK2 CL E G H80025607236Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration607236C1846582OMIM149915894606157
HP:0001332HP:0007325Generalized dystonia1PANK2 CL E G H80025607236Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration607236C1846582OMIM149915894606157
HP:0001332HP:0032005Hemidystonia1PANK2 CL E G H80025607236Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration607236C1846582OMIM149915894606157
HP:0001332HP:0002451Limb dystonia1PANK2 CL E G H80025607236Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration607236C1846582OMIM149915894606157
HP:0001332HP:0010553Oculogyric crisis1PANK2 CL E G H80025607236Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration607236C1846582OMIM149915894606157
HP:0001332HP:0002268Paroxysmal dystonia1PANK2 CL E G H80025607236Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration607236C1846582OMIM149915894606157
HP:0001332HP:0001304Torsion dystonia1PANK2 CL E G H80025607236Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration607236C1846582OMIM149915894606157
HP:0001332HP:0002530Axial dystonia1PCCA CL E G H5095606054Propionyl-CoA carboxylase deficiency606054C0268579OMIM111898653232000
HP:0001332HP:0004373Focal dystonia1PCCA CL E G H5095606054Propionyl-CoA carboxylase deficiency606054C0268579OMIM111898653232000
HP:0001332HP:0007325Generalized dystonia1PCCA CL E G H5095606054Propionyl-CoA carboxylase deficiency606054C0268579OMIM111898653232000
HP:0001332HP:0032005Hemidystonia1PCCA CL E G H5095606054Propionyl-CoA carboxylase deficiency606054C0268579OMIM111898653232000
HP:0001332HP:0002451Limb dystonia1PCCA CL E G H5095606054Propionyl-CoA carboxylase deficiency606054C0268579OMIM111898653232000
HP:0001332HP:0010553Oculogyric crisis1PCCA CL E G H5095606054Propionyl-CoA carboxylase deficiency606054C0268579OMIM111898653232000
HP:0001332HP:0002268Paroxysmal dystonia1PCCA CL E G H5095606054Propionyl-CoA carboxylase deficiency606054C0268579OMIM111898653232000
HP:0001332HP:0001304Torsion dystonia1PCCA CL E G H5095606054Propionyl-CoA carboxylase deficiency606054C0268579OMIM111898653232000
HP:0001332HP:0002530Axial dystonia1PCCB CL E G H5096606054Propionyl-CoA carboxylase deficiency606054C0268579OMIM19718654232050
HP:0001332HP:0004373Focal dystonia1PCCB CL E G H5096606054Propionyl-CoA carboxylase deficiency606054C0268579OMIM19718654232050
HP:0001332HP:0007325Generalized dystonia1PCCB CL E G H5096606054Propionyl-CoA carboxylase deficiency606054C0268579OMIM19718654232050
HP:0001332HP:0032005Hemidystonia1PCCB CL E G H5096606054Propionyl-CoA carboxylase deficiency606054C0268579OMIM19718654232050
HP:0001332HP:0002451Limb dystonia1PCCB CL E G H5096606054Propionyl-CoA carboxylase deficiency606054C0268579OMIM19718654232050
HP:0001332HP:0010553Oculogyric crisis1PCCB CL E G H5096606054Propionyl-CoA carboxylase deficiency606054C0268579OMIM19718654232050
HP:0001332HP:0002268Paroxysmal dystonia1PCCB CL E G H5096606054Propionyl-CoA carboxylase deficiency606054C0268579OMIM19718654232050
HP:0001332HP:0001304Torsion dystonia1PCCB CL E G H5096606054Propionyl-CoA carboxylase deficiency606054C0268579OMIM19718654232050
HP:0001332HP:0002530Axial dystonia1PCDH12 CL E G H51294251280Microcephaly with spastic quadriplegia251280C1855055OMIM13738657605622
HP:0001332HP:0004373Focal dystonia1PCDH12 CL E G H51294251280Microcephaly with spastic quadriplegia251280C1855055OMIM13738657605622
HP:0001332HP:0007325Generalized dystonia1PCDH12 CL E G H51294251280Microcephaly with spastic quadriplegia251280C1855055OMIM13738657605622
HP:0001332HP:0032005Hemidystonia1PCDH12 CL E G H51294251280Microcephaly with spastic quadriplegia251280C1855055OMIM13738657605622
HP:0001332HP:0002451Limb dystonia1PCDH12 CL E G H51294251280Microcephaly with spastic quadriplegia251280C1855055OMIM13738657605622
HP:0001332HP:0010553Oculogyric crisis1PCDH12 CL E G H51294251280Microcephaly with spastic quadriplegia251280C1855055OMIM13738657605622
HP:0001332HP:0002268Paroxysmal dystonia1PCDH12 CL E G H51294251280Microcephaly with spastic quadriplegia251280C1855055OMIM13738657605622
HP:0001332HP:0001304Torsion dystonia1PCDH12 CL E G H51294251280Microcephaly with spastic quadriplegia251280C1855055OMIM13738657605622
HP:0001332HP:0002530Axial dystonia1PDGFB CL E G H5155213600Idiopathic basal ganglia calcification 1213600C0393590OMIM11518800190040
HP:0001332HP:0004373Focal dystonia1PDGFB CL E G H5155213600Idiopathic basal ganglia calcification 1213600C0393590OMIM11518800190040
HP:0001332HP:0007325Generalized dystonia1PDGFB CL E G H5155213600Idiopathic basal ganglia calcification 1213600C0393590OMIM11518800190040
HP:0001332HP:0032005Hemidystonia1PDGFB CL E G H5155213600Idiopathic basal ganglia calcification 1213600C0393590OMIM11518800190040
HP:0001332HP:0002451Limb dystonia1PDGFB CL E G H5155213600Idiopathic basal ganglia calcification 1213600C0393590OMIM11518800190040
HP:0001332HP:0010553Oculogyric crisis1PDGFB CL E G H5155213600Idiopathic basal ganglia calcification 1213600C0393590OMIM11518800190040
HP:0001332HP:0002268Paroxysmal dystonia1PDGFB CL E G H5155213600Idiopathic basal ganglia calcification 1213600C0393590OMIM11518800190040
HP:0001332HP:0001304Torsion dystonia1PDGFB CL E G H5155213600Idiopathic basal ganglia calcification 1213600C0393590OMIM11518800190040
HP:0001332HP:0002530Axial dystonia1PDGFRB CL E G H5159213600Idiopathic basal ganglia calcification 1213600C0393590OMIM15318804173410
HP:0001332HP:0004373Focal dystonia1PDGFRB CL E G H5159213600Idiopathic basal ganglia calcification 1213600C0393590OMIM15318804173410
HP:0001332HP:0007325Generalized dystonia1PDGFRB CL E G H5159213600Idiopathic basal ganglia calcification 1213600C0393590OMIM15318804173410
HP:0001332HP:0032005Hemidystonia1PDGFRB CL E G H5159213600Idiopathic basal ganglia calcification 1213600C0393590OMIM15318804173410
HP:0001332HP:0002451Limb dystonia1PDGFRB CL E G H5159213600Idiopathic basal ganglia calcification 1213600C0393590OMIM15318804173410
HP:0001332HP:0010553Oculogyric crisis1PDGFRB CL E G H5159213600Idiopathic basal ganglia calcification 1213600C0393590OMIM15318804173410
HP:0001332HP:0002268Paroxysmal dystonia1PDGFRB CL E G H5159213600Idiopathic basal ganglia calcification 1213600C0393590OMIM15318804173410
HP:0001332HP:0001304Torsion dystonia1PDGFRB CL E G H5159213600Idiopathic basal ganglia calcification 1213600C0393590OMIM15318804173410
HP:0001332HP:0002530Axial dystonia1PDHA1 CL E G H5160255241ORPHA16798806300502
HP:0001332HP:0004373Focal dystonia1PDHA1 CL E G H5160255241ORPHA16798806300502
HP:0001332HP:0007325Generalized dystonia1PDHA1 CL E G H5160255241ORPHA16798806300502
HP:0001332HP:0032005Hemidystonia1PDHA1 CL E G H5160255241ORPHA16798806300502
HP:0001332HP:0002451Limb dystonia1PDHA1 CL E G H5160255241ORPHA16798806300502
HP:0001332HP:0010553Oculogyric crisis1PDHA1 CL E G H5160255241ORPHA16798806300502
HP:0001332HP:0002268Paroxysmal dystonia1PDHA1 CL E G H5160255241ORPHA16798806300502
HP:0001332HP:0001304Torsion dystonia1PDHA1 CL E G H5160255241ORPHA16798806300502
HP:0001332HP:0002530Axial dystonia1PDHA1 CL E G H5160312170Pyruvate dehydrogenase E1-alpha deficiency312170C1839413OMIM16798806300502
HP:0001332HP:0004373Focal dystonia1PDHA1 CL E G H5160312170Pyruvate dehydrogenase E1-alpha deficiency312170C1839413OMIM16798806300502
HP:0001332HP:0007325Generalized dystonia1PDHA1 CL E G H5160312170Pyruvate dehydrogenase E1-alpha deficiency312170C1839413OMIM16798806300502
HP:0001332HP:0032005Hemidystonia1PDHA1 CL E G H5160312170Pyruvate dehydrogenase E1-alpha deficiency312170C1839413OMIM16798806300502
HP:0001332HP:0002451Limb dystonia1PDHA1 CL E G H5160312170Pyruvate dehydrogenase E1-alpha deficiency312170C1839413OMIM16798806300502
HP:0001332HP:0010553Oculogyric crisis1PDHA1 CL E G H5160312170Pyruvate dehydrogenase E1-alpha deficiency312170C1839413OMIM16798806300502
HP:0001332HP:0002268Paroxysmal dystonia1PDHA1 CL E G H5160312170Pyruvate dehydrogenase E1-alpha deficiency312170C1839413OMIM16798806300502
HP:0001332HP:0001304Torsion dystonia1PDHA1 CL E G H5160312170Pyruvate dehydrogenase E1-alpha deficiency312170C1839413OMIM16798806300502
HP:0001332HP:0002530Axial dystonia1PDHX CL E G H8050245349Pyruvate dehydrogenase E3-binding protein deficiency245349C1855553OMIM137221350608769
HP:0001332HP:0004373Focal dystonia1PDHX CL E G H8050245349Pyruvate dehydrogenase E3-binding protein deficiency245349C1855553OMIM137221350608769
HP:0001332HP:0007325Generalized dystonia1PDHX CL E G H8050245349Pyruvate dehydrogenase E3-binding protein deficiency245349C1855553OMIM137221350608769
HP:0001332HP:0032005Hemidystonia1PDHX CL E G H8050245349Pyruvate dehydrogenase E3-binding protein deficiency245349C1855553OMIM137221350608769
HP:0001332HP:0002451Limb dystonia1PDHX CL E G H8050245349Pyruvate dehydrogenase E3-binding protein deficiency245349C1855553OMIM137221350608769
HP:0001332HP:0010553Oculogyric crisis1PDHX CL E G H8050245349Pyruvate dehydrogenase E3-binding protein deficiency245349C1855553OMIM137221350608769
HP:0001332HP:0002268Paroxysmal dystonia1PDHX CL E G H8050245349Pyruvate dehydrogenase E3-binding protein deficiency245349C1855553OMIM137221350608769
HP:0001332HP:0001304Torsion dystonia1PDHX CL E G H8050245349Pyruvate dehydrogenase E3-binding protein deficiency245349C1855553OMIM137221350608769
HP:0001332HP:0002530Axial dystonia1PET100 CL E G H100131801255241ORPHA17640038614770
HP:0001332HP:0004373Focal dystonia1PET100 CL E G H100131801255241ORPHA17640038614770
HP:0001332HP:0007325Generalized dystonia1PET100 CL E G H100131801255241ORPHA17640038614770
HP:0001332HP:0032005Hemidystonia1PET100 CL E G H100131801255241ORPHA17640038614770
HP:0001332HP:0002451Limb dystonia1PET100 CL E G H100131801255241ORPHA17640038614770
HP:0001332HP:0010553Oculogyric crisis1PET100 CL E G H100131801255241ORPHA17640038614770
HP:0001332HP:0002268Paroxysmal dystonia1PET100 CL E G H100131801255241ORPHA17640038614770
HP:0001332HP:0001304Torsion dystonia1PET100 CL E G H100131801255241ORPHA17640038614770
HP:0001332HP:0002530Axial dystonia1PINK1 CL E G H65018605909Parkinson disease 6, autosomal recessive early-onset605909C1853833OMIM138414581608309
HP:0001332HP:0004373Focal dystonia1PINK1 CL E G H65018605909Parkinson disease 6, autosomal recessive early-onset605909C1853833OMIM138414581608309
HP:0001332HP:0007325Generalized dystonia1PINK1 CL E G H65018605909Parkinson disease 6, autosomal recessive early-onset605909C1853833OMIM138414581608309
HP:0001332HP:0032005Hemidystonia1PINK1 CL E G H65018605909Parkinson disease 6, autosomal recessive early-onset605909C1853833OMIM138414581608309
HP:0001332HP:0002451Limb dystonia1PINK1 CL E G H65018605909Parkinson disease 6, autosomal recessive early-onset605909C1853833OMIM138414581608309
HP:0001332HP:0010553Oculogyric crisis1PINK1 CL E G H65018605909Parkinson disease 6, autosomal recessive early-onset605909C1853833OMIM138414581608309
HP:0001332HP:0002268Paroxysmal dystonia1PINK1 CL E G H65018605909Parkinson disease 6, autosomal recessive early-onset605909C1853833OMIM138414581608309
HP:0001332HP:0001304Torsion dystonia1PINK1 CL E G H65018605909Parkinson disease 6, autosomal recessive early-onset605909C1853833OMIM138414581608309
HP:0001332HP:0002530Axial dystonia1PLA2G6 CL E G H8398610217Neurodegeneration with brain iron accumulation 2b610217C1857747OMIM17759039603604
HP:0001332HP:0004373Focal dystonia1PLA2G6 CL E G H8398610217Neurodegeneration with brain iron accumulation 2b610217C1857747OMIM17759039603604
HP:0001332HP:0007325Generalized dystonia1PLA2G6 CL E G H8398610217Neurodegeneration with brain iron accumulation 2b610217C1857747OMIM17759039603604
HP:0001332HP:0032005Hemidystonia1PLA2G6 CL E G H8398610217Neurodegeneration with brain iron accumulation 2b610217C1857747OMIM17759039603604
HP:0001332HP:0002451Limb dystonia1PLA2G6 CL E G H8398610217Neurodegeneration with brain iron accumulation 2b610217C1857747OMIM17759039603604
HP:0001332HP:0010553Oculogyric crisis1PLA2G6 CL E G H8398610217Neurodegeneration with brain iron accumulation 2b610217C1857747OMIM17759039603604
HP:0001332HP:0002268Paroxysmal dystonia1PLA2G6 CL E G H8398610217Neurodegeneration with brain iron accumulation 2b610217C1857747OMIM17759039603604
HP:0001332HP:0001304Torsion dystonia1PLA2G6 CL E G H8398610217Neurodegeneration with brain iron accumulation 2b610217C1857747OMIM17759039603604
HP:0001332HP:0002530Axial dystonia1PLA2G6 CL E G H8398612953Parkinson disease 14612953C2751842OMIM17759039603604
HP:0001332HP:0004373Focal dystonia1PLA2G6 CL E G H8398612953Parkinson disease 14612953C2751842OMIM17759039603604
HP:0001332HP:0007325Generalized dystonia1PLA2G6 CL E G H8398612953Parkinson disease 14612953C2751842OMIM17759039603604
HP:0001332HP:0032005Hemidystonia1PLA2G6 CL E G H8398612953Parkinson disease 14612953C2751842OMIM17759039603604
HP:0001332HP:0002451Limb dystonia1PLA2G6 CL E G H8398612953Parkinson disease 14612953C2751842OMIM17759039603604
HP:0001332HP:0010553Oculogyric crisis1PLA2G6 CL E G H8398612953Parkinson disease 14612953C2751842OMIM17759039603604
HP:0001332HP:0002268Paroxysmal dystonia1PLA2G6 CL E G H8398612953Parkinson disease 14612953C2751842OMIM17759039603604
HP:0001332HP:0001304Torsion dystonia1PLA2G6 CL E G H8398612953Parkinson disease 14612953C2751842OMIM17759039603604
HP:0001332HP:0002530Axial dystonia1PLAA CL E G H9373521426ORPHA15059043603873
HP:0001332HP:0004373Focal dystonia1PLAA CL E G H9373521426ORPHA15059043603873
HP:0001332HP:0007325Generalized dystonia1PLAA CL E G H9373521426ORPHA15059043603873
HP:0001332HP:0032005Hemidystonia1PLAA CL E G H9373521426ORPHA15059043603873
HP:0001332HP:0002451Limb dystonia1PLAA CL E G H9373521426ORPHA15059043603873
HP:0001332HP:0010553Oculogyric crisis1PLAA CL E G H9373521426ORPHA15059043603873
HP:0001332HP:0002268Paroxysmal dystonia1PLAA CL E G H9373521426ORPHA15059043603873
HP:0001332HP:0001304Torsion dystonia1PLAA CL E G H9373521426ORPHA15059043603873
HP:0001332HP:0002530Axial dystonia1PLP1 CL E G H5354312080Pelizaeus-Merzbacher disease312080C0205711OMIM14519086300401
HP:0001332HP:0004373Focal dystonia1PLP1 CL E G H5354312080Pelizaeus-Merzbacher disease312080C0205711OMIM14519086300401
HP:0001332HP:0007325Generalized dystonia1PLP1 CL E G H5354312080Pelizaeus-Merzbacher disease312080C0205711OMIM14519086300401
HP:0001332HP:0032005Hemidystonia1PLP1 CL E G H5354312080Pelizaeus-Merzbacher disease312080C0205711OMIM14519086300401
HP:0001332HP:0002451Limb dystonia1PLP1 CL E G H5354312080Pelizaeus-Merzbacher disease312080C0205711OMIM14519086300401
HP:0001332HP:0010553Oculogyric crisis1PLP1 CL E G H5354312080Pelizaeus-Merzbacher disease312080C0205711OMIM14519086300401
HP:0001332HP:0002268Paroxysmal dystonia1PLP1 CL E G H5354312080Pelizaeus-Merzbacher disease312080C0205711OMIM14519086300401
HP:0001332HP:0001304Torsion dystonia1PLP1 CL E G H5354312080Pelizaeus-Merzbacher disease312080C0205711OMIM14519086300401
HP:0001332HP:0002530Axial dystonia1PMPCB CL E G H9512617954MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 6617954CN244567OMIM11339119603131
HP:0001332HP:0004373Focal dystonia1PMPCB CL E G H9512617954MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 6617954CN244567OMIM11339119603131
HP:0001332HP:0007325Generalized dystonia1PMPCB CL E G H9512617954MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 6617954CN244567OMIM11339119603131
HP:0001332HP:0032005Hemidystonia1PMPCB CL E G H9512617954MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 6617954CN244567OMIM11339119603131
HP:0001332HP:0002451Limb dystonia1PMPCB CL E G H9512617954MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 6617954CN244567OMIM11339119603131
HP:0001332HP:0010553Oculogyric crisis1PMPCB CL E G H9512617954MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 6617954CN244567OMIM11339119603131
HP:0001332HP:0002268Paroxysmal dystonia1PMPCB CL E G H9512617954MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 6617954CN244567OMIM11339119603131
HP:0001332HP:0001304Torsion dystonia1PMPCB CL E G H9512617954MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 6617954CN244567OMIM11339119603131
HP:0001332HP:0002530Axial dystonia1PNKP CL E G H11284616267Ataxia-oculomotor apraxia 4616267C4225397OMIM110289154605610
HP:0001332HP:0004373Focal dystonia1PNKP CL E G H11284616267Ataxia-oculomotor apraxia 4616267C4225397OMIM110289154605610
HP:0001332HP:0007325Generalized dystonia1PNKP CL E G H11284616267Ataxia-oculomotor apraxia 4616267C4225397OMIM110289154605610
HP:0001332HP:0032005Hemidystonia1PNKP CL E G H11284616267Ataxia-oculomotor apraxia 4616267C4225397OMIM110289154605610
HP:0001332HP:0002451Limb dystonia1PNKP CL E G H11284616267Ataxia-oculomotor apraxia 4616267C4225397OMIM110289154605610
HP:0001332HP:0010553Oculogyric crisis1PNKP CL E G H11284616267Ataxia-oculomotor apraxia 4616267C4225397OMIM110289154605610
HP:0001332HP:0002268Paroxysmal dystonia1PNKP CL E G H11284616267Ataxia-oculomotor apraxia 4616267C4225397OMIM110289154605610
HP:0001332HP:0001304Torsion dystonia1PNKP CL E G H11284616267Ataxia-oculomotor apraxia 4616267C4225397OMIM110289154605610
HP:0001332HP:0002530Axial dystonia1PNPLA8 CL E G H50640251950Mitochondrial myopathy with lactic acidosis251950C1855033OMIM127128900612123
HP:0001332HP:0004373Focal dystonia1PNPLA8 CL E G H50640251950Mitochondrial myopathy with lactic acidosis251950C1855033OMIM127128900612123
HP:0001332HP:0007325Generalized dystonia1PNPLA8 CL E G H50640251950Mitochondrial myopathy with lactic acidosis251950C1855033OMIM127128900612123
HP:0001332HP:0032005Hemidystonia1PNPLA8 CL E G H50640251950Mitochondrial myopathy with lactic acidosis251950C1855033OMIM127128900612123
HP:0001332HP:0002451Limb dystonia1PNPLA8 CL E G H50640251950Mitochondrial myopathy with lactic acidosis251950C1855033OMIM127128900612123
HP:0001332HP:0010553Oculogyric crisis1PNPLA8 CL E G H50640251950Mitochondrial myopathy with lactic acidosis251950C1855033OMIM127128900612123
HP:0001332HP:0002268Paroxysmal dystonia1PNPLA8 CL E G H50640251950Mitochondrial myopathy with lactic acidosis251950C1855033OMIM127128900612123
HP:0001332HP:0001304Torsion dystonia1PNPLA8 CL E G H50640251950Mitochondrial myopathy with lactic acidosis251950C1855033OMIM127128900612123
HP:0001332HP:0002530Axial dystonia1PNPT1 CL E G H87178614932Combined oxidative phosphorylation deficiency 13614932C3554129OMIM176123166610316
HP:0001332HP:0004373Focal dystonia1PNPT1 CL E G H87178614932Combined oxidative phosphorylation deficiency 13614932C3554129OMIM176123166610316
HP:0001332HP:0007325Generalized dystonia1PNPT1 CL E G H87178614932Combined oxidative phosphorylation deficiency 13614932C3554129OMIM176123166610316
HP:0001332HP:0032005Hemidystonia1PNPT1 CL E G H87178614932Combined oxidative phosphorylation deficiency 13614932C3554129OMIM176123166610316
HP:0001332HP:0002451Limb dystonia1PNPT1 CL E G H87178614932Combined oxidative phosphorylation deficiency 13614932C3554129OMIM176123166610316
HP:0001332HP:0010553Oculogyric crisis1PNPT1 CL E G H87178614932Combined oxidative phosphorylation deficiency 13614932C3554129OMIM176123166610316
HP:0001332HP:0002268Paroxysmal dystonia1PNPT1 CL E G H87178614932Combined oxidative phosphorylation deficiency 13614932C3554129OMIM176123166610316
HP:0001332HP:0001304Torsion dystonia1PNPT1 CL E G H87178614932Combined oxidative phosphorylation deficiency 13614932C3554129OMIM176123166610316
HP:0001332HP:0002530Axial dystonia1PODXL CL E G H5420391411ORPHA12009171602632
HP:0001332HP:0004373Focal dystonia1PODXL CL E G H5420391411ORPHA12009171602632
HP:0001332HP:0007325Generalized dystonia1PODXL CL E G H5420391411ORPHA12009171602632
HP:0001332HP:0032005Hemidystonia1PODXL CL E G H5420391411ORPHA12009171602632
HP:0001332HP:0002451Limb dystonia1PODXL CL E G H5420391411ORPHA12009171602632
HP:0001332HP:0010553Oculogyric crisis1PODXL CL E G H5420391411ORPHA12009171602632
HP:0001332HP:0002268Paroxysmal dystonia1PODXL CL E G H5420391411ORPHA12009171602632
HP:0001332HP:0001304Torsion dystonia1PODXL CL E G H5420391411ORPHA12009171602632
HP:0001332HP:0002530Axial dystonia1POLR3A CL E G H11128447896ORPHA1102530074614258
HP:0001332HP:0004373Focal dystonia1POLR3A CL E G H11128447896ORPHA1102530074614258
HP:0001332HP:0007325Generalized dystonia1POLR3A CL E G H11128447896ORPHA1102530074614258
HP:0001332HP:0032005Hemidystonia1POLR3A CL E G H11128447896ORPHA1102530074614258
HP:0001332HP:0002451Limb dystonia1POLR3A CL E G H11128447896ORPHA1102530074614258
HP:0001332HP:0010553Oculogyric crisis1POLR3A CL E G H11128447896ORPHA1102530074614258
HP:0001332HP:0002268Paroxysmal dystonia1POLR3A CL E G H11128447896ORPHA1102530074614258
HP:0001332HP:0001304Torsion dystonia1POLR3A CL E G H11128447896ORPHA1102530074614258
HP:0001332HP:0002530Axial dystonia1POLR3A CL E G H11128607694Hypomyelinating leukodystrophy 7607694C2676243OMIM1102530074614258
HP:0001332HP:0004373Focal dystonia1POLR3A CL E G H11128607694Hypomyelinating leukodystrophy 7607694C2676243OMIM1102530074614258
HP:0001332HP:0007325Generalized dystonia1POLR3A CL E G H11128607694Hypomyelinating leukodystrophy 7607694C2676243OMIM1102530074614258
HP:0001332HP:0032005Hemidystonia1POLR3A CL E G H11128607694Hypomyelinating leukodystrophy 7607694C2676243OMIM1102530074614258
HP:0001332HP:0002451Limb dystonia1POLR3A CL E G H11128607694Hypomyelinating leukodystrophy 7607694C2676243OMIM1102530074614258
HP:0001332HP:0010553Oculogyric crisis1POLR3A CL E G H11128607694Hypomyelinating leukodystrophy 7607694C2676243OMIM1102530074614258
HP:0001332HP:0002268Paroxysmal dystonia1POLR3A CL E G H11128607694Hypomyelinating leukodystrophy 7607694C2676243OMIM1102530074614258
HP:0001332HP:0001304Torsion dystonia1POLR3A CL E G H11128607694Hypomyelinating leukodystrophy 7607694C2676243OMIM1102530074614258
HP:0001332HP:0002530Axial dystonia1POLR3B CL E G H55703607694Hypomyelinating leukodystrophy 7607694C2676243OMIM151030348614366
HP:0001332HP:0004373Focal dystonia1POLR3B CL E G H55703607694Hypomyelinating leukodystrophy 7607694C2676243OMIM151030348614366
HP:0001332HP:0007325Generalized dystonia1POLR3B CL E G H55703607694Hypomyelinating leukodystrophy 7607694C2676243OMIM151030348614366
HP:0001332HP:0032005Hemidystonia1POLR3B CL E G H55703607694Hypomyelinating leukodystrophy 7607694C2676243OMIM151030348614366
HP:0001332HP:0002451Limb dystonia1POLR3B CL E G H55703607694Hypomyelinating leukodystrophy 7607694C2676243OMIM151030348614366
HP:0001332HP:0010553Oculogyric crisis1POLR3B CL E G H55703607694Hypomyelinating leukodystrophy 7607694C2676243OMIM151030348614366
HP:0001332HP:0002268Paroxysmal dystonia1POLR3B CL E G H55703607694Hypomyelinating leukodystrophy 7607694C2676243OMIM151030348614366
HP:0001332HP:0001304Torsion dystonia1POLR3B CL E G H55703607694Hypomyelinating leukodystrophy 7607694C2676243OMIM151030348614366
HP:0001332HP:0002530Axial dystonia1PRKN CL E G H5071600116Parkinson disease 2600116C1868675OMIM17058607602544
HP:0001332HP:0004373Focal dystonia1PRKN CL E G H5071600116Parkinson disease 2600116C1868675OMIM17058607602544
HP:0001332HP:0007325Generalized dystonia1PRKN CL E G H5071600116Parkinson disease 2600116C1868675OMIM17058607602544
HP:0001332HP:0032005Hemidystonia1PRKN CL E G H5071600116Parkinson disease 2600116C1868675OMIM17058607602544
HP:0001332HP:0002451Limb dystonia1PRKN CL E G H5071600116Parkinson disease 2600116C1868675OMIM17058607602544
HP:0001332HP:0010553Oculogyric crisis1PRKN CL E G H5071600116Parkinson disease 2600116C1868675OMIM17058607602544
HP:0001332HP:0002268Paroxysmal dystonia1PRKN CL E G H5071600116Parkinson disease 2600116C1868675OMIM17058607602544
HP:0001332HP:0001304Torsion dystonia1PRKN CL E G H5071600116Parkinson disease 2600116C1868675OMIM17058607602544
HP:0001332HP:0002530Axial dystonia1PSAP CL E G H5660139406ORPHA17729498176801
HP:0001332HP:0004373Focal dystonia1PSAP CL E G H5660139406ORPHA17729498176801
HP:0001332HP:0007325Generalized dystonia1PSAP CL E G H5660139406ORPHA17729498176801
HP:0001332HP:0032005Hemidystonia1PSAP CL E G H5660139406ORPHA17729498176801
HP:0001332HP:0002451Limb dystonia1PSAP CL E G H5660139406ORPHA17729498176801
HP:0001332HP:0010553Oculogyric crisis1PSAP CL E G H5660139406ORPHA17729498176801
HP:0001332HP:0002268Paroxysmal dystonia1PSAP CL E G H5660139406ORPHA17729498176801
HP:0001332HP:0001304Torsion dystonia1PSAP CL E G H5660139406ORPHA17729498176801
HP:0001332HP:0002530Axial dystonia1PSAP CL E G H5660309256ORPHA17729498176801
HP:0001332HP:0004373Focal dystonia1PSAP CL E G H5660309256ORPHA17729498176801
HP:0001332HP:0007325Generalized dystonia1PSAP CL E G H5660309256ORPHA17729498176801
HP:0001332HP:0032005Hemidystonia1PSAP CL E G H5660309256ORPHA17729498176801
HP:0001332HP:0002451Limb dystonia1PSAP CL E G H5660309256ORPHA17729498176801
HP:0001332HP:0010553Oculogyric crisis1PSAP CL E G H5660309256ORPHA17729498176801
HP:0001332HP:0002268Paroxysmal dystonia1PSAP CL E G H5660309256ORPHA17729498176801
HP:0001332HP:0001304Torsion dystonia1PSAP CL E G H5660309256ORPHA17729498176801
HP:0001332HP:0002530Axial dystonia1PSAP CL E G H5660309263ORPHA17729498176801
HP:0001332HP:0004373Focal dystonia1PSAP CL E G H5660309263ORPHA17729498176801
HP:0001332HP:0007325Generalized dystonia1PSAP CL E G H5660309263ORPHA17729498176801
HP:0001332HP:0032005Hemidystonia1PSAP CL E G H5660309263ORPHA17729498176801
HP:0001332HP:0002451Limb dystonia1PSAP CL E G H5660309263ORPHA17729498176801
HP:0001332HP:0010553Oculogyric crisis1PSAP CL E G H5660309263ORPHA17729498176801
HP:0001332HP:0002268Paroxysmal dystonia1PSAP CL E G H5660309263ORPHA17729498176801
HP:0001332HP:0001304Torsion dystonia1PSAP CL E G H5660309263ORPHA17729498176801
HP:0001332HP:0002530Axial dystonia1PSAP CL E G H5660309271ORPHA17729498176801
HP:0001332HP:0004373Focal dystonia1PSAP CL E G H5660309271ORPHA17729498176801
HP:0001332HP:0007325Generalized dystonia1PSAP CL E G H5660309271ORPHA17729498176801
HP:0001332HP:0032005Hemidystonia1PSAP CL E G H5660309271ORPHA17729498176801
HP:0001332HP:0002451Limb dystonia1PSAP CL E G H5660309271ORPHA17729498176801
HP:0001332HP:0010553Oculogyric crisis1PSAP CL E G H5660309271ORPHA17729498176801
HP:0001332HP:0002268Paroxysmal dystonia1PSAP CL E G H5660309271ORPHA17729498176801
HP:0001332HP:0001304Torsion dystonia1PSAP CL E G H5660309271ORPHA17729498176801
HP:0001332HP:0002530Axial dystonia1PSEN1 CL E G H5663607822Alzheimer disease, type 3607822C1843013OMIM15019508104311
HP:0001332HP:0004373Focal dystonia1PSEN1 CL E G H5663607822Alzheimer disease, type 3607822C1843013OMIM15019508104311
HP:0001332HP:0007325Generalized dystonia1PSEN1 CL E G H5663607822Alzheimer disease, type 3607822C1843013OMIM15019508104311
HP:0001332HP:0032005Hemidystonia1PSEN1 CL E G H5663607822Alzheimer disease, type 3607822C1843013OMIM15019508104311
HP:0001332HP:0002451Limb dystonia1PSEN1 CL E G H5663607822Alzheimer disease, type 3607822C1843013OMIM15019508104311
HP:0001332HP:0010553Oculogyric crisis1PSEN1 CL E G H5663607822Alzheimer disease, type 3607822C1843013OMIM15019508104311
HP:0001332HP:0002268Paroxysmal dystonia1PSEN1 CL E G H5663607822Alzheimer disease, type 3607822C1843013OMIM15019508104311
HP:0001332HP:0001304Torsion dystonia1PSEN1 CL E G H5663607822Alzheimer disease, type 3607822C1843013OMIM15019508104311
HP:0001332HP:0002530Axial dystonia1PTS CL E G H58052616406-pyruvoyl-tetrahydropterin synthase deficiency261640C0878676OMIM12639689612719
HP:0001332HP:0004373Focal dystonia1PTS CL E G H58052616406-pyruvoyl-tetrahydropterin synthase deficiency261640C0878676OMIM12639689612719
HP:0001332HP:0007325Generalized dystonia1PTS CL E G H58052616406-pyruvoyl-tetrahydropterin synthase deficiency261640C0878676OMIM12639689612719
HP:0001332HP:0032005Hemidystonia1PTS CL E G H58052616406-pyruvoyl-tetrahydropterin synthase deficiency261640C0878676OMIM12639689612719
HP:0001332HP:0002451Limb dystonia1PTS CL E G H58052616406-pyruvoyl-tetrahydropterin synthase deficiency261640C0878676OMIM12639689612719
HP:0001332HP:0010553Oculogyric crisis1PTS CL E G H58052616406-pyruvoyl-tetrahydropterin synthase deficiency261640C0878676OMIM12639689612719
HP:0001332HP:0002268Paroxysmal dystonia1PTS CL E G H58052616406-pyruvoyl-tetrahydropterin synthase deficiency261640C0878676OMIM12639689612719
HP:0001332HP:0001304Torsion dystonia1PTS CL E G H58052616406-pyruvoyl-tetrahydropterin synthase deficiency261640C0878676OMIM12639689612719
HP:0001332HP:0002530Axial dystonia1QDPR CL E G H5860261630Dihydropteridine reductase deficiency261630C0268465OMIM13199752612676
HP:0001332HP:0004373Focal dystonia1QDPR CL E G H5860261630Dihydropteridine reductase deficiency261630C0268465OMIM13199752612676
HP:0001332HP:0007325Generalized dystonia1QDPR CL E G H5860261630Dihydropteridine reductase deficiency261630C0268465OMIM13199752612676
HP:0001332HP:0032005Hemidystonia1QDPR CL E G H5860261630Dihydropteridine reductase deficiency261630C0268465OMIM13199752612676
HP:0001332HP:0002451Limb dystonia1QDPR CL E G H5860261630Dihydropteridine reductase deficiency261630C0268465OMIM13199752612676
HP:0001332HP:0010553Oculogyric crisis1QDPR CL E G H5860261630Dihydropteridine reductase deficiency261630C0268465OMIM13199752612676
HP:0001332HP:0002268Paroxysmal dystonia1QDPR CL E G H5860261630Dihydropteridine reductase deficiency261630C0268465OMIM13199752612676
HP:0001332HP:0001304Torsion dystonia1QDPR CL E G H5860261630Dihydropteridine reductase deficiency261630C0268465OMIM13199752612676
HP:0001332HP:0002530Axial dystonia1RAB11B CL E G H9230617807NEURODEVELOPMENTAL DISORDER WITH ATAXIC GAIT, ABSENT SPEECH, AND DECREASED CORTICAL WHITE MATTER617807C4540498OMIM11619761604198
HP:0001332HP:0004373Focal dystonia1RAB11B CL E G H9230617807NEURODEVELOPMENTAL DISORDER WITH ATAXIC GAIT, ABSENT SPEECH, AND DECREASED CORTICAL WHITE MATTER617807C4540498OMIM11619761604198
HP:0001332HP:0007325Generalized dystonia1RAB11B CL E G H9230617807NEURODEVELOPMENTAL DISORDER WITH ATAXIC GAIT, ABSENT SPEECH, AND DECREASED CORTICAL WHITE MATTER617807C4540498OMIM11619761604198
HP:0001332HP:0032005Hemidystonia1RAB11B CL E G H9230617807NEURODEVELOPMENTAL DISORDER WITH ATAXIC GAIT, ABSENT SPEECH, AND DECREASED CORTICAL WHITE MATTER617807C4540498OMIM11619761604198
HP:0001332HP:0002451Limb dystonia1RAB11B CL E G H9230617807NEURODEVELOPMENTAL DISORDER WITH ATAXIC GAIT, ABSENT SPEECH, AND DECREASED CORTICAL WHITE MATTER617807C4540498OMIM11619761604198
HP:0001332HP:0010553Oculogyric crisis1RAB11B CL E G H9230617807NEURODEVELOPMENTAL DISORDER WITH ATAXIC GAIT, ABSENT SPEECH, AND DECREASED CORTICAL WHITE MATTER617807C4540498OMIM11619761604198
HP:0001332HP:0002268Paroxysmal dystonia1RAB11B CL E G H9230617807NEURODEVELOPMENTAL DISORDER WITH ATAXIC GAIT, ABSENT SPEECH, AND DECREASED CORTICAL WHITE MATTER617807C4540498OMIM11619761604198
HP:0001332HP:0001304Torsion dystonia1RAB11B CL E G H9230617807NEURODEVELOPMENTAL DISORDER WITH ATAXIC GAIT, ABSENT SPEECH, AND DECREASED CORTICAL WHITE MATTER617807C4540498OMIM11619761604198
HP:0001332HP:0002530Axial dystonia1RARS CL E G H5917438114ORPHA19870107820
HP:0001332HP:0004373Focal dystonia1RARS CL E G H5917438114ORPHA19870107820
HP:0001332HP:0007325Generalized dystonia1RARS CL E G H5917438114ORPHA19870107820
HP:0001332HP:0032005Hemidystonia1RARS CL E G H5917438114ORPHA19870107820
HP:0001332HP:0002451Limb dystonia1RARS CL E G H5917438114ORPHA19870107820
HP:0001332HP:0010553Oculogyric crisis1RARS CL E G H5917438114ORPHA19870107820
HP:0001332HP:0002268Paroxysmal dystonia1RARS CL E G H5917438114ORPHA19870107820
HP:0001332HP:0001304Torsion dystonia1RARS CL E G H5917438114ORPHA19870107820
HP:0001332HP:0002530Axial dystonia1RHOBTB2 CL E G H23221618004EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 64618004CN248512OMIM159218756607352
HP:0001332HP:0004373Focal dystonia1RHOBTB2 CL E G H23221618004EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 64618004CN248512OMIM159218756607352
HP:0001332HP:0007325Generalized dystonia1RHOBTB2 CL E G H23221618004EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 64618004CN248512OMIM159218756607352
HP:0001332HP:0032005Hemidystonia1RHOBTB2 CL E G H23221618004EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 64618004CN248512OMIM159218756607352
HP:0001332HP:0002451Limb dystonia1RHOBTB2 CL E G H23221618004EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 64618004CN248512OMIM159218756607352
HP:0001332HP:0010553Oculogyric crisis1RHOBTB2 CL E G H23221618004EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 64618004CN248512OMIM159218756607352
HP:0001332HP:0002268Paroxysmal dystonia1RHOBTB2 CL E G H23221618004EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 64618004CN248512OMIM159218756607352
HP:0001332HP:0001304Torsion dystonia1RHOBTB2 CL E G H23221618004EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 64618004CN248512OMIM159218756607352
HP:0001332HP:0002530Axial dystonia1RNASEH2A CL E G H1053551ORPHA140418518606034
HP:0001332HP:0004373Focal dystonia1RNASEH2A CL E G H1053551ORPHA140418518606034
HP:0001332HP:0007325Generalized dystonia1RNASEH2A CL E G H1053551ORPHA140418518606034
HP:0001332HP:0032005Hemidystonia1RNASEH2A CL E G H1053551ORPHA140418518606034
HP:0001332HP:0002451Limb dystonia1RNASEH2A CL E G H1053551ORPHA140418518606034
HP:0001332HP:0010553Oculogyric crisis1RNASEH2A CL E G H1053551ORPHA140418518606034
HP:0001332HP:0002268Paroxysmal dystonia1RNASEH2A CL E G H1053551ORPHA140418518606034
HP:0001332HP:0001304Torsion dystonia1RNASEH2A CL E G H1053551ORPHA140418518606034
HP:0001332HP:0002530Axial dystonia1RNASEH2A CL E G H10535610333Aicardi Goutieres syndrome 4610333C1835912OMIM140418518606034
HP:0001332HP:0004373Focal dystonia1RNASEH2A CL E G H10535610333Aicardi Goutieres syndrome 4610333C1835912OMIM140418518606034
HP:0001332HP:0007325Generalized dystonia1RNASEH2A CL E G H10535610333Aicardi Goutieres syndrome 4610333C1835912OMIM140418518606034
HP:0001332HP:0032005Hemidystonia1RNASEH2A CL E G H10535610333Aicardi Goutieres syndrome 4610333C1835912OMIM140418518606034
HP:0001332HP:0002451Limb dystonia1RNASEH2A CL E G H10535610333Aicardi Goutieres syndrome 4610333C1835912OMIM140418518606034
HP:0001332HP:0010553Oculogyric crisis1RNASEH2A CL E G H10535610333Aicardi Goutieres syndrome 4610333C1835912OMIM140418518606034
HP:0001332HP:0002268Paroxysmal dystonia1RNASEH2A CL E G H10535610333Aicardi Goutieres syndrome 4610333C1835912OMIM140418518606034
HP:0001332HP:0001304Torsion dystonia1RNASEH2A CL E G H10535610333Aicardi Goutieres syndrome 4610333C1835912OMIM140418518606034
HP:0001332HP:0002530Axial dystonia1RNASEH2B CL E G H7962151ORPHA142625671610326
HP:0001332HP:0004373Focal dystonia1RNASEH2B CL E G H7962151ORPHA142625671610326
HP:0001332HP:0007325Generalized dystonia1RNASEH2B CL E G H7962151ORPHA142625671610326
HP:0001332HP:0032005Hemidystonia1RNASEH2B CL E G H7962151ORPHA142625671610326
HP:0001332HP:0002451Limb dystonia1RNASEH2B CL E G H7962151ORPHA142625671610326
HP:0001332HP:0010553Oculogyric crisis1RNASEH2B CL E G H7962151ORPHA142625671610326
HP:0001332HP:0002268Paroxysmal dystonia1RNASEH2B CL E G H7962151ORPHA142625671610326
HP:0001332HP:0001304Torsion dystonia1RNASEH2B CL E G H7962151ORPHA142625671610326
HP:0001332HP:0002530Axial dystonia1RNASEH2C CL E G H8415351ORPHA130724116610330
HP:0001332HP:0004373Focal dystonia1RNASEH2C CL E G H8415351ORPHA130724116610330
HP:0001332HP:0007325Generalized dystonia1RNASEH2C CL E G H8415351ORPHA130724116610330
HP:0001332HP:0032005Hemidystonia1RNASEH2C CL E G H8415351ORPHA130724116610330
HP:0001332HP:0002451Limb dystonia1RNASEH2C CL E G H8415351ORPHA130724116610330
HP:0001332HP:0010553Oculogyric crisis1RNASEH2C CL E G H8415351ORPHA130724116610330
HP:0001332HP:0002268Paroxysmal dystonia1RNASEH2C CL E G H8415351ORPHA130724116610330
HP:0001332HP:0001304Torsion dystonia1RNASEH2C CL E G H8415351ORPHA130724116610330
HP:0001332HP:0002530Axial dystonia1RNASEH2C CL E G H84153610329Aicardi Goutieres syndrome 3610329C1835916OMIM130724116610330
HP:0001332HP:0004373Focal dystonia1RNASEH2C CL E G H84153610329Aicardi Goutieres syndrome 3610329C1835916OMIM130724116610330
HP:0001332HP:0007325Generalized dystonia1RNASEH2C CL E G H84153610329Aicardi Goutieres syndrome 3610329C1835916OMIM130724116610330
HP:0001332HP:0032005Hemidystonia1RNASEH2C CL E G H84153610329Aicardi Goutieres syndrome 3610329C1835916OMIM130724116610330
HP:0001332HP:0002451Limb dystonia1RNASEH2C CL E G H84153610329Aicardi Goutieres syndrome 3610329C1835916OMIM130724116610330
HP:0001332HP:0010553Oculogyric crisis1RNASEH2C CL E G H84153610329Aicardi Goutieres syndrome 3610329C1835916OMIM130724116610330
HP:0001332HP:0002268Paroxysmal dystonia1RNASEH2C CL E G H84153610329Aicardi Goutieres syndrome 3610329C1835916OMIM130724116610330
HP:0001332HP:0001304Torsion dystonia1RNASEH2C CL E G H84153610329Aicardi Goutieres syndrome 3610329C1835916OMIM130724116610330
HP:0001332HP:0002530Axial dystonia1SAMHD1 CL E G H2593951ORPHA174615925606754
HP:0001332HP:0004373Focal dystonia1SAMHD1 CL E G H2593951ORPHA174615925606754
HP:0001332HP:0007325Generalized dystonia1SAMHD1 CL E G H2593951ORPHA174615925606754
HP:0001332HP:0032005Hemidystonia1SAMHD1 CL E G H2593951ORPHA174615925606754
HP:0001332HP:0002451Limb dystonia1SAMHD1 CL E G H2593951ORPHA174615925606754
HP:0001332HP:0010553Oculogyric crisis1SAMHD1 CL E G H2593951ORPHA174615925606754
HP:0001332HP:0002268Paroxysmal dystonia1SAMHD1 CL E G H2593951ORPHA174615925606754
HP:0001332HP:0001304Torsion dystonia1SAMHD1 CL E G H2593951ORPHA174615925606754
HP:0001332HP:0002530Axial dystonia1SDHA CL E G H6389255241ORPHA1250310680600857
HP:0001332HP:0004373Focal dystonia1SDHA CL E G H6389255241ORPHA1250310680600857
HP:0001332HP:0007325Generalized dystonia1SDHA CL E G H6389255241ORPHA1250310680600857
HP:0001332HP:0032005Hemidystonia1SDHA CL E G H6389255241ORPHA1250310680600857
HP:0001332HP:0002451Limb dystonia1SDHA CL E G H6389255241ORPHA1250310680600857
HP:0001332HP:0010553Oculogyric crisis1SDHA CL E G H6389255241ORPHA1250310680600857
HP:0001332HP:0002268Paroxysmal dystonia1SDHA CL E G H6389255241ORPHA1250310680600857
HP:0001332HP:0001304Torsion dystonia1SDHA CL E G H6389255241ORPHA1250310680600857
HP:0001332HP:0002530Axial dystonia1SDHA CL E G H6389256000Leigh syndrome256000C0023264OMIM1250310680600857
HP:0001332HP:0004373Focal dystonia1SDHA CL E G H6389256000Leigh syndrome256000C0023264OMIM1250310680600857
HP:0001332HP:0007325Generalized dystonia1SDHA CL E G H6389256000Leigh syndrome256000C0023264OMIM1250310680600857
HP:0001332HP:0032005Hemidystonia1SDHA CL E G H6389256000Leigh syndrome256000C0023264OMIM1250310680600857
HP:0001332HP:0002451Limb dystonia1SDHA CL E G H6389256000Leigh syndrome256000C0023264OMIM1250310680600857
HP:0001332HP:0010553Oculogyric crisis1SDHA CL E G H6389256000Leigh syndrome256000C0023264OMIM1250310680600857
HP:0001332HP:0002268Paroxysmal dystonia1SDHA CL E G H6389256000Leigh syndrome256000C0023264OMIM1250310680600857
HP:0001332HP:0001304Torsion dystonia1SDHA CL E G H6389256000Leigh syndrome256000C0023264OMIM1250310680600857
HP:0001332HP:0002530Axial dystonia1SDHA CL E G H6389252011Mitochondrial complex II deficiency252011C1855008OMIM1250310680600857
HP:0001332HP:0004373Focal dystonia1SDHA CL E G H6389252011Mitochondrial complex II deficiency252011C1855008OMIM1250310680600857
HP:0001332HP:0007325Generalized dystonia1SDHA CL E G H6389252011Mitochondrial complex II deficiency252011C1855008OMIM1250310680600857
HP:0001332HP:0032005Hemidystonia1SDHA CL E G H6389252011Mitochondrial complex II deficiency252011C1855008OMIM1250310680600857
HP:0001332HP:0002451Limb dystonia1SDHA CL E G H6389252011Mitochondrial complex II deficiency252011C1855008OMIM1250310680600857
HP:0001332HP:0010553Oculogyric crisis1SDHA CL E G H6389252011Mitochondrial complex II deficiency252011C1855008OMIM1250310680600857
HP:0001332HP:0002268Paroxysmal dystonia1SDHA CL E G H6389252011Mitochondrial complex II deficiency252011C1855008OMIM1250310680600857
HP:0001332HP:0001304Torsion dystonia1SDHA CL E G H6389252011Mitochondrial complex II deficiency252011C1855008OMIM1250310680600857
HP:0001332HP:0002530Axial dystonia1SDHAF1 CL E G H644096252011Mitochondrial complex II deficiency252011C1855008OMIM17733867612848
HP:0001332HP:0004373Focal dystonia1SDHAF1 CL E G H644096252011Mitochondrial complex II deficiency252011C1855008OMIM17733867612848
HP:0001332HP:0007325Generalized dystonia1SDHAF1 CL E G H644096252011Mitochondrial complex II deficiency252011C1855008OMIM17733867612848
HP:0001332HP:0032005Hemidystonia1SDHAF1 CL E G H644096252011Mitochondrial complex II deficiency252011C1855008OMIM17733867612848
HP:0001332HP:0002451Limb dystonia1SDHAF1 CL E G H644096252011Mitochondrial complex II deficiency252011C1855008OMIM17733867612848
HP:0001332HP:0010553Oculogyric crisis1SDHAF1 CL E G H644096252011Mitochondrial complex II deficiency252011C1855008OMIM17733867612848
HP:0001332HP:0002268Paroxysmal dystonia1SDHAF1 CL E G H644096252011Mitochondrial complex II deficiency252011C1855008OMIM17733867612848
HP:0001332HP:0001304Torsion dystonia1SDHAF1 CL E G H644096252011Mitochondrial complex II deficiency252011C1855008OMIM17733867612848
HP:0001332HP:0002530Axial dystonia1SDHD CL E G H6392252011Mitochondrial complex II deficiency252011C1855008OMIM168610683602690
HP:0001332HP:0004373Focal dystonia1SDHD CL E G H6392252011Mitochondrial complex II deficiency252011C1855008OMIM168610683602690
HP:0001332HP:0007325Generalized dystonia1SDHD CL E G H6392252011Mitochondrial complex II deficiency252011C1855008OMIM168610683602690
HP:0001332HP:0032005Hemidystonia1SDHD CL E G H6392252011Mitochondrial complex II deficiency252011C1855008OMIM168610683602690
HP:0001332HP:0002451Limb dystonia1SDHD CL E G H6392252011Mitochondrial complex II deficiency252011C1855008OMIM168610683602690
HP:0001332HP:0010553Oculogyric crisis1SDHD CL E G H6392252011Mitochondrial complex II deficiency252011C1855008OMIM168610683602690
HP:0001332HP:0002268Paroxysmal dystonia1SDHD CL E G H6392252011Mitochondrial complex II deficiency252011C1855008OMIM168610683602690
HP:0001332HP:0001304Torsion dystonia1SDHD CL E G H6392252011Mitochondrial complex II deficiency252011C1855008OMIM168610683602690
HP:0001332HP:0002530Axial dystonia1SERAC1 CL E G H849476147393-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome614739C3553597OMIM140021061614725
HP:0001332HP:0004373Focal dystonia1SERAC1 CL E G H849476147393-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome614739C3553597OMIM140021061614725
HP:0001332HP:0007325Generalized dystonia1SERAC1 CL E G H849476147393-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome614739C3553597OMIM140021061614725
HP:0001332HP:0032005Hemidystonia1SERAC1 CL E G H849476147393-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome614739C3553597OMIM140021061614725
HP:0001332HP:0002451Limb dystonia1SERAC1 CL E G H849476147393-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome614739C3553597OMIM140021061614725
HP:0001332HP:0010553Oculogyric crisis1SERAC1 CL E G H849476147393-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome614739C3553597OMIM140021061614725
HP:0001332HP:0002268Paroxysmal dystonia1SERAC1 CL E G H849476147393-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome614739C3553597OMIM140021061614725
HP:0001332HP:0001304Torsion dystonia1SERAC1 CL E G H849476147393-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome614739C3553597OMIM140021061614725
HP:0001332HP:0002530Axial dystonia1SLC19A3 CL E G H80704255241ORPHA156316266606152
HP:0001332HP:0004373Focal dystonia1SLC19A3 CL E G H80704255241ORPHA156316266606152
HP:0001332HP:0007325Generalized dystonia1SLC19A3 CL E G H80704255241ORPHA156316266606152
HP:0001332HP:0032005Hemidystonia1SLC19A3 CL E G H80704255241ORPHA156316266606152
HP:0001332HP:0002451Limb dystonia1SLC19A3 CL E G H80704255241ORPHA156316266606152
HP:0001332HP:0010553Oculogyric crisis1SLC19A3 CL E G H80704255241ORPHA156316266606152
HP:0001332HP:0002268Paroxysmal dystonia1SLC19A3 CL E G H80704255241ORPHA156316266606152
HP:0001332HP:0001304Torsion dystonia1SLC19A3 CL E G H80704255241ORPHA156316266606152
HP:0001332HP:0002530Axial dystonia1SLC19A3 CL E G H80704607483Basal ganglia disease, biotin-responsive607483C1843807OMIM156316266606152
HP:0001332HP:0004373Focal dystonia1SLC19A3 CL E G H80704607483Basal ganglia disease, biotin-responsive607483C1843807OMIM156316266606152
HP:0001332HP:0007325Generalized dystonia1SLC19A3 CL E G H80704607483Basal ganglia disease, biotin-responsive607483C1843807OMIM156316266606152
HP:0001332HP:0032005Hemidystonia1SLC19A3 CL E G H80704607483Basal ganglia disease, biotin-responsive607483C1843807OMIM156316266606152
HP:0001332HP:0002451Limb dystonia1SLC19A3 CL E G H80704607483Basal ganglia disease, biotin-responsive607483C1843807OMIM156316266606152
HP:0001332HP:0010553Oculogyric crisis1SLC19A3 CL E G H80704607483Basal ganglia disease, biotin-responsive607483C1843807OMIM156316266606152
HP:0001332HP:0002268Paroxysmal dystonia1SLC19A3 CL E G H80704607483Basal ganglia disease, biotin-responsive607483C1843807OMIM156316266606152
HP:0001332HP:0001304Torsion dystonia1SLC19A3 CL E G H80704607483Basal ganglia disease, biotin-responsive607483C1843807OMIM156316266606152
HP:0001332HP:0002530Axial dystonia1SLC20A2 CL E G H6575213600Idiopathic basal ganglia calcification 1213600C0393590OMIM133710947158378
HP:0001332HP:0004373Focal dystonia1SLC20A2 CL E G H6575213600Idiopathic basal ganglia calcification 1213600C0393590OMIM133710947158378
HP:0001332HP:0007325Generalized dystonia1SLC20A2 CL E G H6575213600Idiopathic basal ganglia calcification 1213600C0393590OMIM133710947158378
HP:0001332HP:0032005Hemidystonia1SLC20A2 CL E G H6575213600Idiopathic basal ganglia calcification 1213600C0393590OMIM133710947158378
HP:0001332HP:0002451Limb dystonia1SLC20A2 CL E G H6575213600Idiopathic basal ganglia calcification 1213600C0393590OMIM133710947158378
HP:0001332HP:0010553Oculogyric crisis1SLC20A2 CL E G H6575213600Idiopathic basal ganglia calcification 1213600C0393590OMIM133710947158378
HP:0001332HP:0002268Paroxysmal dystonia1SLC20A2 CL E G H6575213600Idiopathic basal ganglia calcification 1213600C0393590OMIM133710947158378
HP:0001332HP:0001304Torsion dystonia1SLC20A2 CL E G H6575213600Idiopathic basal ganglia calcification 1213600C0393590OMIM133710947158378
HP:0001332HP:0002530Axial dystonia1SLC2A1 CL E G H651353583ORPHA196511005138140
HP:0001332HP:0004373Focal dystonia1SLC2A1 CL E G H651353583ORPHA196511005138140
HP:0001332HP:0007325Generalized dystonia1SLC2A1 CL E G H651353583ORPHA196511005138140
HP:0001332HP:0032005Hemidystonia1SLC2A1 CL E G H651353583ORPHA196511005138140
HP:0001332HP:0002451Limb dystonia1SLC2A1 CL E G H651353583ORPHA196511005138140
HP:0001332HP:0010553Oculogyric crisis1SLC2A1 CL E G H651353583ORPHA196511005138140
HP:0001332HP:0002268Paroxysmal dystonia1SLC2A1 CL E G H651353583ORPHA196511005138140
HP:0001332HP:0001304Torsion dystonia1SLC2A1 CL E G H651353583ORPHA196511005138140
HP:0001332HP:0002530Axial dystonia1SLC2A1 CL E G H651371277ORPHA196511005138140
HP:0001332HP:0004373Focal dystonia1SLC2A1 CL E G H651371277ORPHA196511005138140
HP:0001332HP:0007325Generalized dystonia1SLC2A1 CL E G H651371277ORPHA196511005138140
HP:0001332HP:0032005Hemidystonia1SLC2A1 CL E G H651371277ORPHA196511005138140
HP:0001332HP:0002451Limb dystonia1SLC2A1 CL E G H651371277ORPHA196511005138140
HP:0001332HP:0010553Oculogyric crisis1SLC2A1 CL E G H651371277ORPHA196511005138140
HP:0001332HP:0002268Paroxysmal dystonia1SLC2A1 CL E G H651371277ORPHA196511005138140
HP:0001332HP:0001304Torsion dystonia1SLC2A1 CL E G H651371277ORPHA196511005138140
HP:0001332HP:0002530Axial dystonia1SLC2A1 CL E G H6513601042Dystonia 9601042C1832855OMIM196511005138140
HP:0001332HP:0004373Focal dystonia1SLC2A1 CL E G H6513601042Dystonia 9601042C1832855OMIM196511005138140
HP:0001332HP:0007325Generalized dystonia1SLC2A1 CL E G H6513601042Dystonia 9601042C1832855OMIM196511005138140
HP:0001332HP:0032005Hemidystonia1SLC2A1 CL E G H6513601042Dystonia 9601042C1832855OMIM196511005138140
HP:0001332HP:0002451Limb dystonia1SLC2A1 CL E G H6513601042Dystonia 9601042C1832855OMIM196511005138140
HP:0001332HP:0010553Oculogyric crisis1SLC2A1 CL E G H6513601042Dystonia 9601042C1832855OMIM196511005138140
HP:0001332HP:0002268Paroxysmal dystonia1SLC2A1 CL E G H6513601042Dystonia 9601042C1832855OMIM196511005138140
HP:0001332HP:0001304Torsion dystonia1SLC2A1 CL E G H6513601042Dystonia 9601042C1832855OMIM196511005138140
HP:0001332HP:0002530Axial dystonia1SLC2A1 CL E G H6513612126GLUT1 deficiency syndrome 2612126C1842534OMIM196511005138140
HP:0001332HP:0004373Focal dystonia1SLC2A1 CL E G H6513612126GLUT1 deficiency syndrome 2612126C1842534OMIM196511005138140
HP:0001332HP:0007325Generalized dystonia1SLC2A1 CL E G H6513612126GLUT1 deficiency syndrome 2612126C1842534OMIM196511005138140
HP:0001332HP:0032005Hemidystonia1SLC2A1 CL E G H6513612126GLUT1 deficiency syndrome 2612126C1842534OMIM196511005138140
HP:0001332HP:0002451Limb dystonia1SLC2A1 CL E G H6513612126GLUT1 deficiency syndrome 2612126C1842534OMIM196511005138140
HP:0001332HP:0010553Oculogyric crisis1SLC2A1 CL E G H6513612126GLUT1 deficiency syndrome 2612126C1842534OMIM196511005138140
HP:0001332HP:0002268Paroxysmal dystonia1SLC2A1 CL E G H6513612126GLUT1 deficiency syndrome 2612126C1842534OMIM196511005138140
HP:0001332HP:0001304Torsion dystonia1SLC2A1 CL E G H6513612126GLUT1 deficiency syndrome 2612126C1842534OMIM196511005138140
HP:0001332HP:0002530Axial dystonia1SLC30A10 CL E G H55532309854ORPHA127525355611146
HP:0001332HP:0004373Focal dystonia1SLC30A10 CL E G H55532309854ORPHA127525355611146
HP:0001332HP:0007325Generalized dystonia1SLC30A10 CL E G H55532309854ORPHA127525355611146
HP:0001332HP:0032005Hemidystonia1SLC30A10 CL E G H55532309854ORPHA127525355611146
HP:0001332HP:0002451Limb dystonia1SLC30A10 CL E G H55532309854ORPHA127525355611146
HP:0001332HP:0010553Oculogyric crisis1SLC30A10 CL E G H55532309854ORPHA127525355611146
HP:0001332HP:0002268Paroxysmal dystonia1SLC30A10 CL E G H55532309854ORPHA127525355611146
HP:0001332HP:0001304Torsion dystonia1SLC30A10 CL E G H55532309854ORPHA127525355611146
HP:0001332HP:0002530Axial dystonia1SLC30A10 CL E G H55532613280Hypermanganesemia with dystonia 1613280OMIM127525355611146
HP:0001332HP:0004373Focal dystonia1SLC30A10 CL E G H55532613280Hypermanganesemia with dystonia 1613280OMIM127525355611146
HP:0001332HP:0007325Generalized dystonia1SLC30A10 CL E G H55532613280Hypermanganesemia with dystonia 1613280OMIM127525355611146
HP:0001332HP:0032005Hemidystonia1SLC30A10 CL E G H55532613280Hypermanganesemia with dystonia 1613280OMIM127525355611146
HP:0001332HP:0002451Limb dystonia1SLC30A10 CL E G H55532613280Hypermanganesemia with dystonia 1613280OMIM127525355611146
HP:0001332HP:0010553Oculogyric crisis1SLC30A10 CL E G H55532613280Hypermanganesemia with dystonia 1613280OMIM127525355611146
HP:0001332HP:0002268Paroxysmal dystonia1SLC30A10 CL E G H55532613280Hypermanganesemia with dystonia 1613280OMIM127525355611146
HP:0001332HP:0001304Torsion dystonia1SLC30A10 CL E G H55532613280Hypermanganesemia with dystonia 1613280OMIM127525355611146
HP:0001332HP:0002530Axial dystonia1SLC30A9 CL E G H10463617595Birk-Landau-Perez syndrome617595C4539828OMIM1451329604604
HP:0001332HP:0004373Focal dystonia1SLC30A9 CL E G H10463617595Birk-Landau-Perez syndrome617595C4539828OMIM1451329604604
HP:0001332HP:0007325Generalized dystonia1SLC30A9 CL E G H10463617595Birk-Landau-Perez syndrome617595C4539828OMIM1451329604604
HP:0001332HP:0032005Hemidystonia1SLC30A9 CL E G H10463617595Birk-Landau-Perez syndrome617595C4539828OMIM1451329604604
HP:0001332HP:0002451Limb dystonia1SLC30A9 CL E G H10463617595Birk-Landau-Perez syndrome617595C4539828OMIM1451329604604
HP:0001332HP:0010553Oculogyric crisis1SLC30A9 CL E G H10463617595Birk-Landau-Perez syndrome617595C4539828OMIM1451329604604
HP:0001332HP:0002268Paroxysmal dystonia1SLC30A9 CL E G H10463617595Birk-Landau-Perez syndrome617595C4539828OMIM1451329604604
HP:0001332HP:0001304Torsion dystonia1SLC30A9 CL E G H10463617595Birk-Landau-Perez syndrome617595C4539828OMIM1451329604604
HP:0001332HP:0002530Axial dystonia1SLC6A8 CL E G H653552503ORPHA1106211055300036
HP:0001332HP:0004373Focal dystonia1SLC6A8 CL E G H653552503ORPHA1106211055300036
HP:0001332HP:0007325Generalized dystonia1SLC6A8 CL E G H653552503ORPHA1106211055300036
HP:0001332HP:0032005Hemidystonia1SLC6A8 CL E G H653552503ORPHA1106211055300036
HP:0001332HP:0002451Limb dystonia1SLC6A8 CL E G H653552503ORPHA1106211055300036
HP:0001332HP:0010553Oculogyric crisis1SLC6A8 CL E G H653552503ORPHA1106211055300036
HP:0001332HP:0002268Paroxysmal dystonia1SLC6A8 CL E G H653552503ORPHA1106211055300036
HP:0001332HP:0001304Torsion dystonia1SLC6A8 CL E G H653552503ORPHA1106211055300036
HP:0001332HP:0002530Axial dystonia1SLC6A8 CL E G H6535300352Creatine deficiency, X-linked300352C1845862OMIM1106211055300036
HP:0001332HP:0004373Focal dystonia1SLC6A8 CL E G H6535300352Creatine deficiency, X-linked300352C1845862OMIM1106211055300036
HP:0001332HP:0007325Generalized dystonia1SLC6A8 CL E G H6535300352Creatine deficiency, X-linked300352C1845862OMIM1106211055300036
HP:0001332HP:0032005Hemidystonia1SLC6A8 CL E G H6535300352Creatine deficiency, X-linked300352C1845862OMIM1106211055300036
HP:0001332HP:0002451Limb dystonia1SLC6A8 CL E G H6535300352Creatine deficiency, X-linked300352C1845862OMIM1106211055300036
HP:0001332HP:0010553Oculogyric crisis1SLC6A8 CL E G H6535300352Creatine deficiency, X-linked300352C1845862OMIM1106211055300036
HP:0001332HP:0002268Paroxysmal dystonia1SLC6A8 CL E G H6535300352Creatine deficiency, X-linked300352C1845862OMIM1106211055300036
HP:0001332HP:0001304Torsion dystonia1SLC6A8 CL E G H6535300352Creatine deficiency, X-linked300352C1845862OMIM1106211055300036
HP:0001332HP:0002530Axial dystonia1SLC9A6 CL E G H1047985278ORPHA161211079300231
HP:0001332HP:0004373Focal dystonia1SLC9A6 CL E G H1047985278ORPHA161211079300231
HP:0001332HP:0007325Generalized dystonia1SLC9A6 CL E G H1047985278ORPHA161211079300231
HP:0001332HP:0032005Hemidystonia1SLC9A6 CL E G H1047985278ORPHA161211079300231
HP:0001332HP:0002451Limb dystonia1SLC9A6 CL E G H1047985278ORPHA161211079300231
HP:0001332HP:0010553Oculogyric crisis1SLC9A6 CL E G H1047985278ORPHA161211079300231
HP:0001332HP:0002268Paroxysmal dystonia1SLC9A6 CL E G H1047985278ORPHA161211079300231
HP:0001332HP:0001304Torsion dystonia1SLC9A6 CL E G H1047985278ORPHA161211079300231
HP:0001332HP:0002530Axial dystonia1SNCA CL E G H6622171695ORPHA119311138163890
HP:0001332HP:0004373Focal dystonia1SNCA CL E G H6622171695ORPHA119311138163890
HP:0001332HP:0007325Generalized dystonia1SNCA CL E G H6622171695ORPHA119311138163890
HP:0001332HP:0032005Hemidystonia1SNCA CL E G H6622171695ORPHA119311138163890
HP:0001332HP:0002451Limb dystonia1SNCA CL E G H6622171695ORPHA119311138163890
HP:0001332HP:0010553Oculogyric crisis1SNCA CL E G H6622171695ORPHA119311138163890
HP:0001332HP:0002268Paroxysmal dystonia1SNCA CL E G H6622171695ORPHA119311138163890
HP:0001332HP:0001304Torsion dystonia1SNCA CL E G H6622171695ORPHA119311138163890
HP:0001332HP:0002530Axial dystonia1SNCA CL E G H6622168601Parkinson disease 1168601C1868595OMIM119311138163890
HP:0001332HP:0004373Focal dystonia1SNCA CL E G H6622168601Parkinson disease 1168601C1868595OMIM119311138163890
HP:0001332HP:0007325Generalized dystonia1SNCA CL E G H6622168601Parkinson disease 1168601C1868595OMIM119311138163890
HP:0001332HP:0032005Hemidystonia1SNCA CL E G H6622168601Parkinson disease 1168601C1868595OMIM119311138163890
HP:0001332HP:0002451Limb dystonia1SNCA CL E G H6622168601Parkinson disease 1168601C1868595OMIM119311138163890
HP:0001332HP:0010553Oculogyric crisis1SNCA CL E G H6622168601Parkinson disease 1168601C1868595OMIM119311138163890
HP:0001332HP:0002268Paroxysmal dystonia1SNCA CL E G H6622168601Parkinson disease 1168601C1868595OMIM119311138163890
HP:0001332HP:0001304Torsion dystonia1SNCA CL E G H6622168601Parkinson disease 1168601C1868595OMIM119311138163890
HP:0001332HP:0002530Axial dystonia1SNCAIP CL E G H9627168600Parkinson disease, late-onset168600C3160718OMIM116011139603779
HP:0001332HP:0004373Focal dystonia1SNCAIP CL E G H9627168600Parkinson disease, late-onset168600C3160718OMIM116011139603779
HP:0001332HP:0007325Generalized dystonia1SNCAIP CL E G H9627168600Parkinson disease, late-onset168600C3160718OMIM116011139603779
HP:0001332HP:0032005Hemidystonia1SNCAIP CL E G H9627168600Parkinson disease, late-onset168600C3160718OMIM116011139603779
HP:0001332HP:0002451Limb dystonia1SNCAIP CL E G H9627168600Parkinson disease, late-onset168600C3160718OMIM116011139603779
HP:0001332HP:0010553Oculogyric crisis1SNCAIP CL E G H9627168600Parkinson disease, late-onset168600C3160718OMIM116011139603779
HP:0001332HP:0002268Paroxysmal dystonia1SNCAIP CL E G H9627168600Parkinson disease, late-onset168600C3160718OMIM116011139603779
HP:0001332HP:0001304Torsion dystonia1SNCAIP CL E G H9627168600Parkinson disease, late-onset168600C3160718OMIM116011139603779
HP:0001332HP:0002530Axial dystonia1SNORD118 CL E G H727676614561Leukoencephalopathy, brain calcifications, and cysts614561C3281200OMIM118932952616663
HP:0001332HP:0004373Focal dystonia1SNORD118 CL E G H727676614561Leukoencephalopathy, brain calcifications, and cysts614561C3281200OMIM118932952616663
HP:0001332HP:0007325Generalized dystonia1SNORD118 CL E G H727676614561Leukoencephalopathy, brain calcifications, and cysts614561C3281200OMIM118932952616663
HP:0001332HP:0032005Hemidystonia1SNORD118 CL E G H727676614561Leukoencephalopathy, brain calcifications, and cysts614561C3281200OMIM118932952616663
HP:0001332HP:0002451Limb dystonia1SNORD118 CL E G H727676614561Leukoencephalopathy, brain calcifications, and cysts614561C3281200OMIM118932952616663
HP:0001332HP:0010553Oculogyric crisis1SNORD118 CL E G H727676614561Leukoencephalopathy, brain calcifications, and cysts614561C3281200OMIM118932952616663
HP:0001332HP:0002268Paroxysmal dystonia1SNORD118 CL E G H727676614561Leukoencephalopathy, brain calcifications, and cysts614561C3281200OMIM118932952616663
HP:0001332HP:0001304Torsion dystonia1SNORD118 CL E G H727676614561Leukoencephalopathy, brain calcifications, and cysts614561C3281200OMIM118932952616663
HP:0001332HP:0002530Axial dystonia1SPR CL E G H6697612716Sepiapterin reductase deficiency612716C0268468OMIM119811257182125
HP:0001332HP:0004373Focal dystonia1SPR CL E G H6697612716Sepiapterin reductase deficiency612716C0268468OMIM119811257182125
HP:0001332HP:0007325Generalized dystonia1SPR CL E G H6697612716Sepiapterin reductase deficiency612716C0268468OMIM119811257182125
HP:0001332HP:0032005Hemidystonia1SPR CL E G H6697612716Sepiapterin reductase deficiency612716C0268468OMIM119811257182125
HP:0001332HP:0002451Limb dystonia1SPR CL E G H6697612716Sepiapterin reductase deficiency612716C0268468OMIM119811257182125
HP:0001332HP:0010553Oculogyric crisis1SPR CL E G H6697612716Sepiapterin reductase deficiency612716C0268468OMIM119811257182125
HP:0001332HP:0002268Paroxysmal dystonia1SPR CL E G H6697612716Sepiapterin reductase deficiency612716C0268468OMIM119811257182125
HP:0001332HP:0001304Torsion dystonia1SPR CL E G H6697612716Sepiapterin reductase deficiency612716C0268468OMIM119811257182125
HP:0001332HP:0002530Axial dystonia1SQSTM1 CL E G H8878617145Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset617145C4310693OMIM167711280601530
HP:0001332HP:0004373Focal dystonia1SQSTM1 CL E G H8878617145Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset617145C4310693OMIM167711280601530
HP:0001332HP:0007325Generalized dystonia1SQSTM1 CL E G H8878617145Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset617145C4310693OMIM167711280601530
HP:0001332HP:0032005Hemidystonia1SQSTM1 CL E G H8878617145Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset617145C4310693OMIM167711280601530
HP:0001332HP:0002451Limb dystonia1SQSTM1 CL E G H8878617145Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset617145C4310693OMIM167711280601530
HP:0001332HP:0010553Oculogyric crisis1SQSTM1 CL E G H8878617145Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset617145C4310693OMIM167711280601530
HP:0001332HP:0002268Paroxysmal dystonia1SQSTM1 CL E G H8878617145Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset617145C4310693OMIM167711280601530
HP:0001332HP:0001304Torsion dystonia1SQSTM1 CL E G H8878617145Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset617145C4310693OMIM167711280601530
HP:0001332HP:0002530Axial dystonia1STN1 CL E G H79991617341Cerebroretinal microangiopathy with calcifications and cysts 2617341C4479220OMIM122526200613128
HP:0001332HP:0004373Focal dystonia1STN1 CL E G H79991617341Cerebroretinal microangiopathy with calcifications and cysts 2617341C4479220OMIM122526200613128
HP:0001332HP:0007325Generalized dystonia1STN1 CL E G H79991617341Cerebroretinal microangiopathy with calcifications and cysts 2617341C4479220OMIM122526200613128
HP:0001332HP:0032005Hemidystonia1STN1 CL E G H79991617341Cerebroretinal microangiopathy with calcifications and cysts 2617341C4479220OMIM122526200613128
HP:0001332HP:0002451Limb dystonia1STN1 CL E G H79991617341Cerebroretinal microangiopathy with calcifications and cysts 2617341C4479220OMIM122526200613128
HP:0001332HP:0010553Oculogyric crisis1STN1 CL E G H79991617341Cerebroretinal microangiopathy with calcifications and cysts 2617341C4479220OMIM122526200613128
HP:0001332HP:0002268Paroxysmal dystonia1STN1 CL E G H79991617341Cerebroretinal microangiopathy with calcifications and cysts 2617341C4479220OMIM122526200613128
HP:0001332HP:0001304Torsion dystonia1STN1 CL E G H79991617341Cerebroretinal microangiopathy with calcifications and cysts 2617341C4479220OMIM122526200613128
HP:0001332HP:0002530Axial dystonia1SUCLA2 CL E G H8803612073Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)612073C2749864OMIM141311448603921
HP:0001332HP:0004373Focal dystonia1SUCLA2 CL E G H8803612073Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)612073C2749864OMIM141311448603921
HP:0001332HP:0007325Generalized dystonia1SUCLA2 CL E G H8803612073Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)612073C2749864OMIM141311448603921
HP:0001332HP:0032005Hemidystonia1SUCLA2 CL E G H8803612073Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)612073C2749864OMIM141311448603921
HP:0001332HP:0002451Limb dystonia1SUCLA2 CL E G H8803612073Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)612073C2749864OMIM141311448603921
HP:0001332HP:0010553Oculogyric crisis1SUCLA2 CL E G H8803612073Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)612073C2749864OMIM141311448603921
HP:0001332HP:0002268Paroxysmal dystonia1SUCLA2 CL E G H8803612073Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)612073C2749864OMIM141311448603921
HP:0001332HP:0001304Torsion dystonia1SUCLA2 CL E G H8803612073Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)612073C2749864OMIM141311448603921
HP:0001332HP:0002530Axial dystonia1SURF1 CL E G H6834255241ORPHA153211474185620
HP:0001332HP:0004373Focal dystonia1SURF1 CL E G H6834255241ORPHA153211474185620
HP:0001332HP:0007325Generalized dystonia1SURF1 CL E G H6834255241ORPHA153211474185620
HP:0001332HP:0032005Hemidystonia1SURF1 CL E G H6834255241ORPHA153211474185620
HP:0001332HP:0002451Limb dystonia1SURF1 CL E G H6834255241ORPHA153211474185620
HP:0001332HP:0010553Oculogyric crisis1SURF1 CL E G H6834255241ORPHA153211474185620
HP:0001332HP:0002268Paroxysmal dystonia1SURF1 CL E G H6834255241ORPHA153211474185620
HP:0001332HP:0001304Torsion dystonia1SURF1 CL E G H6834255241ORPHA153211474185620
HP:0001332HP:0002530Axial dystonia1SURF1 CL E G H6834616684Charcot-Marie-Tooth disease, type 4k616684C4225246OMIM153211474185620
HP:0001332HP:0004373Focal dystonia1SURF1 CL E G H6834616684Charcot-Marie-Tooth disease, type 4k616684C4225246OMIM153211474185620
HP:0001332HP:0007325Generalized dystonia1SURF1 CL E G H6834616684Charcot-Marie-Tooth disease, type 4k616684C4225246OMIM153211474185620
HP:0001332HP:0032005Hemidystonia1SURF1 CL E G H6834616684Charcot-Marie-Tooth disease, type 4k616684C4225246OMIM153211474185620
HP:0001332HP:0002451Limb dystonia1SURF1 CL E G H6834616684Charcot-Marie-Tooth disease, type 4k616684C4225246OMIM153211474185620
HP:0001332HP:0010553Oculogyric crisis1SURF1 CL E G H6834616684Charcot-Marie-Tooth disease, type 4k616684C4225246OMIM153211474185620
HP:0001332HP:0002268Paroxysmal dystonia1SURF1 CL E G H6834616684Charcot-Marie-Tooth disease, type 4k616684C4225246OMIM153211474185620
HP:0001332HP:0001304Torsion dystonia1SURF1 CL E G H6834616684Charcot-Marie-Tooth disease, type 4k616684C4225246OMIM153211474185620
HP:0001332HP:0002530Axial dystonia1SURF1 CL E G H6834256000Leigh syndrome256000C0023264OMIM153211474185620
HP:0001332HP:0004373Focal dystonia1SURF1 CL E G H6834256000Leigh syndrome256000C0023264OMIM153211474185620
HP:0001332HP:0007325Generalized dystonia1SURF1 CL E G H6834256000Leigh syndrome256000C0023264OMIM153211474185620
HP:0001332HP:0032005Hemidystonia1SURF1 CL E G H6834256000Leigh syndrome256000C0023264OMIM153211474185620
HP:0001332HP:0002451Limb dystonia1SURF1 CL E G H6834256000Leigh syndrome256000C0023264OMIM153211474185620
HP:0001332HP:0010553Oculogyric crisis1SURF1 CL E G H6834256000Leigh syndrome256000C0023264OMIM153211474185620
HP:0001332HP:0002268Paroxysmal dystonia1SURF1 CL E G H6834256000Leigh syndrome256000C0023264OMIM153211474185620
HP:0001332HP:0001304Torsion dystonia1SURF1 CL E G H6834256000Leigh syndrome256000C0023264OMIM153211474185620
HP:0001332HP:0002530Axial dystonia1SYNJ1 CL E G H8867391411ORPHA1131511503604297
HP:0001332HP:0004373Focal dystonia1SYNJ1 CL E G H8867391411ORPHA1131511503604297
HP:0001332HP:0007325Generalized dystonia1SYNJ1 CL E G H8867391411ORPHA1131511503604297
HP:0001332HP:0032005Hemidystonia1SYNJ1 CL E G H8867391411ORPHA1131511503604297
HP:0001332HP:0002451Limb dystonia1SYNJ1 CL E G H8867391411ORPHA1131511503604297
HP:0001332HP:0010553Oculogyric crisis1SYNJ1 CL E G H8867391411ORPHA1131511503604297
HP:0001332HP:0002268Paroxysmal dystonia1SYNJ1 CL E G H8867391411ORPHA1131511503604297
HP:0001332HP:0001304Torsion dystonia1SYNJ1 CL E G H8867391411ORPHA1131511503604297
HP:0001332HP:0002530Axial dystonia1SYNJ1 CL E G H8867615530Parkinson disease 20, early-onset615530C3809824OMIM1131511503604297
HP:0001332HP:0004373Focal dystonia1SYNJ1 CL E G H8867615530Parkinson disease 20, early-onset615530C3809824OMIM1131511503604297
HP:0001332HP:0007325Generalized dystonia1SYNJ1 CL E G H8867615530Parkinson disease 20, early-onset615530C3809824OMIM1131511503604297
HP:0001332HP:0032005Hemidystonia1SYNJ1 CL E G H8867615530Parkinson disease 20, early-onset615530C3809824OMIM1131511503604297
HP:0001332HP:0002451Limb dystonia1SYNJ1 CL E G H8867615530Parkinson disease 20, early-onset615530C3809824OMIM1131511503604297
HP:0001332HP:0010553Oculogyric crisis1SYNJ1 CL E G H8867615530Parkinson disease 20, early-onset615530C3809824OMIM1131511503604297
HP:0001332HP:0002268Paroxysmal dystonia1SYNJ1 CL E G H8867615530Parkinson disease 20, early-onset615530C3809824OMIM1131511503604297
HP:0001332HP:0001304Torsion dystonia1SYNJ1 CL E G H8867615530Parkinson disease 20, early-onset615530C3809824OMIM1131511503604297
HP:0001332HP:0002530Axial dystonia1SYT1 CL E G H6857618218BAKER-GORDON SYNDROME618218OMIM17611509185605
HP:0001332HP:0004373Focal dystonia1SYT1 CL E G H6857618218BAKER-GORDON SYNDROME618218OMIM17611509185605
HP:0001332HP:0007325Generalized dystonia1SYT1 CL E G H6857618218BAKER-GORDON SYNDROME618218OMIM17611509185605
HP:0001332HP:0032005Hemidystonia1SYT1 CL E G H6857618218BAKER-GORDON SYNDROME618218OMIM17611509185605
HP:0001332HP:0002451Limb dystonia1SYT1 CL E G H6857618218BAKER-GORDON SYNDROME618218OMIM17611509185605
HP:0001332HP:0010553Oculogyric crisis1SYT1 CL E G H6857618218BAKER-GORDON SYNDROME618218OMIM17611509185605
HP:0001332HP:0002268Paroxysmal dystonia1SYT1 CL E G H6857618218BAKER-GORDON SYNDROME618218OMIM17611509185605
HP:0001332HP:0001304Torsion dystonia1SYT1 CL E G H6857618218BAKER-GORDON SYNDROME618218OMIM17611509185605
HP:0001332HP:0002530Axial dystonia1TACO1 CL E G H51204255241ORPHA111724316612958
HP:0001332HP:0004373Focal dystonia1TACO1 CL E G H51204255241ORPHA111724316612958
HP:0001332HP:0007325Generalized dystonia1TACO1 CL E G H51204255241ORPHA111724316612958
HP:0001332HP:0032005Hemidystonia1TACO1 CL E G H51204255241ORPHA111724316612958
HP:0001332HP:0002451Limb dystonia1TACO1 CL E G H51204255241ORPHA111724316612958
HP:0001332HP:0010553Oculogyric crisis1TACO1 CL E G H51204255241ORPHA111724316612958
HP:0001332HP:0002268Paroxysmal dystonia1TACO1 CL E G H51204255241ORPHA111724316612958
HP:0001332HP:0001304Torsion dystonia1TACO1 CL E G H51204255241ORPHA111724316612958
HP:0001332HP:0002530Axial dystonia1TBC1D24 CL E G H57465352596ORPHA189329203613577
HP:0001332HP:0004373Focal dystonia1TBC1D24 CL E G H57465352596ORPHA189329203613577
HP:0001332HP:0007325Generalized dystonia1TBC1D24 CL E G H57465352596ORPHA189329203613577
HP:0001332HP:0032005Hemidystonia1TBC1D24 CL E G H57465352596ORPHA189329203613577
HP:0001332HP:0002451Limb dystonia1TBC1D24 CL E G H57465352596ORPHA189329203613577
HP:0001332HP:0010553Oculogyric crisis1TBC1D24 CL E G H57465352596ORPHA189329203613577
HP:0001332HP:0002268Paroxysmal dystonia1TBC1D24 CL E G H57465352596ORPHA189329203613577
HP:0001332HP:0001304Torsion dystonia1TBC1D24 CL E G H57465352596ORPHA189329203613577
HP:0001332HP:0002530Axial dystonia1TBC1D24 CL E G H57465615338Early infantile epileptic encephalopathy 16615338C3809173OMIM189329203613577
HP:0001332HP:0004373Focal dystonia1TBC1D24 CL E G H57465615338Early infantile epileptic encephalopathy 16615338C3809173OMIM189329203613577
HP:0001332HP:0007325Generalized dystonia1TBC1D24 CL E G H57465615338Early infantile epileptic encephalopathy 16615338C3809173OMIM189329203613577
HP:0001332HP:0032005Hemidystonia1TBC1D24 CL E G H57465615338Early infantile epileptic encephalopathy 16615338C3809173OMIM189329203613577
HP:0001332HP:0002451Limb dystonia1TBC1D24 CL E G H57465615338Early infantile epileptic encephalopathy 16615338C3809173OMIM189329203613577
HP:0001332HP:0010553Oculogyric crisis1TBC1D24 CL E G H57465615338Early infantile epileptic encephalopathy 16615338C3809173OMIM189329203613577
HP:0001332HP:0002268Paroxysmal dystonia1TBC1D24 CL E G H57465615338Early infantile epileptic encephalopathy 16615338C3809173OMIM189329203613577
HP:0001332HP:0001304Torsion dystonia1TBC1D24 CL E G H57465615338Early infantile epileptic encephalopathy 16615338C3809173OMIM189329203613577
HP:0001332HP:0002530Axial dystonia1TBP CL E G H6908607136Spinocerebellar ataxia 17607136C1846707OMIM113111588600075
HP:0001332HP:0004373Focal dystonia1TBP CL E G H6908607136Spinocerebellar ataxia 17607136C1846707OMIM113111588600075
HP:0001332HP:0007325Generalized dystonia1TBP CL E G H6908607136Spinocerebellar ataxia 17607136C1846707OMIM113111588600075
HP:0001332HP:0032005Hemidystonia1TBP CL E G H6908607136Spinocerebellar ataxia 17607136C1846707OMIM113111588600075
HP:0001332HP:0002451Limb dystonia1TBP CL E G H6908607136Spinocerebellar ataxia 17607136C1846707OMIM113111588600075
HP:0001332HP:0010553Oculogyric crisis1TBP CL E G H6908607136Spinocerebellar ataxia 17607136C1846707OMIM113111588600075
HP:0001332HP:0002268Paroxysmal dystonia1TBP CL E G H6908607136Spinocerebellar ataxia 17607136C1846707OMIM113111588600075
HP:0001332HP:0001304Torsion dystonia1TBP CL E G H6908607136Spinocerebellar ataxia 17607136C1846707OMIM113111588600075
HP:0001332HP:0002530Axial dystonia1TIMM8A CL E G H1678304700Mohr-Tranebjaerg syndrome304700C0796074OMIM122711817300356
HP:0001332HP:0004373Focal dystonia1TIMM8A CL E G H1678304700Mohr-Tranebjaerg syndrome304700C0796074OMIM122711817300356
HP:0001332HP:0007325Generalized dystonia1TIMM8A CL E G H1678304700Mohr-Tranebjaerg syndrome304700C0796074OMIM122711817300356
HP:0001332HP:0032005Hemidystonia1TIMM8A CL E G H1678304700Mohr-Tranebjaerg syndrome304700C0796074OMIM122711817300356
HP:0001332HP:0002451Limb dystonia1TIMM8A CL E G H1678304700Mohr-Tranebjaerg syndrome304700C0796074OMIM122711817300356
HP:0001332HP:0010553Oculogyric crisis1TIMM8A CL E G H1678304700Mohr-Tranebjaerg syndrome304700C0796074OMIM122711817300356
HP:0001332HP:0002268Paroxysmal dystonia1TIMM8A CL E G H1678304700Mohr-Tranebjaerg syndrome304700C0796074OMIM122711817300356
HP:0001332HP:0001304Torsion dystonia1TIMM8A CL E G H1678304700Mohr-Tranebjaerg syndrome304700C0796074OMIM122711817300356
HP:0001332HP:0002530Axial dystonia1TMEM106B CL E G H54664617964LEUKODYSTROPHY, HYPOMYELINATING, 16617964CN244907OMIM112822407613413
HP:0001332HP:0004373Focal dystonia1TMEM106B CL E G H54664617964LEUKODYSTROPHY, HYPOMYELINATING, 16617964CN244907OMIM112822407613413
HP:0001332HP:0007325Generalized dystonia1TMEM106B CL E G H54664617964LEUKODYSTROPHY, HYPOMYELINATING, 16617964CN244907OMIM112822407613413
HP:0001332HP:0032005Hemidystonia1TMEM106B CL E G H54664617964LEUKODYSTROPHY, HYPOMYELINATING, 16617964CN244907OMIM112822407613413
HP:0001332HP:0002451Limb dystonia1TMEM106B CL E G H54664617964LEUKODYSTROPHY, HYPOMYELINATING, 16617964CN244907OMIM112822407613413
HP:0001332HP:0010553Oculogyric crisis1TMEM106B CL E G H54664617964LEUKODYSTROPHY, HYPOMYELINATING, 16617964CN244907OMIM112822407613413
HP:0001332HP:0002268Paroxysmal dystonia1TMEM106B CL E G H54664617964LEUKODYSTROPHY, HYPOMYELINATING, 16617964CN244907OMIM112822407613413
HP:0001332HP:0001304Torsion dystonia1TMEM106B CL E G H54664617964LEUKODYSTROPHY, HYPOMYELINATING, 16617964CN244907OMIM112822407613413
HP:0001332HP:0002530Axial dystonia1TPI1 CL E G H7167615512Triosephosphate isomerase deficiency615512C1860808OMIM118112009190450
HP:0001332HP:0004373Focal dystonia1TPI1 CL E G H7167615512Triosephosphate isomerase deficiency615512C1860808OMIM118112009190450
HP:0001332HP:0007325Generalized dystonia1TPI1 CL E G H7167615512Triosephosphate isomerase deficiency615512C1860808OMIM118112009190450
HP:0001332HP:0032005Hemidystonia1TPI1 CL E G H7167615512Triosephosphate isomerase deficiency615512C1860808OMIM118112009190450
HP:0001332HP:0002451Limb dystonia1TPI1 CL E G H7167615512Triosephosphate isomerase deficiency615512C1860808OMIM118112009190450
HP:0001332HP:0010553Oculogyric crisis1TPI1 CL E G H7167615512Triosephosphate isomerase deficiency615512C1860808OMIM118112009190450
HP:0001332HP:0002268Paroxysmal dystonia1TPI1 CL E G H7167615512Triosephosphate isomerase deficiency615512C1860808OMIM118112009190450
HP:0001332HP:0001304Torsion dystonia1TPI1 CL E G H7167615512Triosephosphate isomerase deficiency615512C1860808OMIM118112009190450
HP:0001332HP:0002530Axial dystonia1TPK1 CL E G H27010614458Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type)614458C3280866OMIM131817358606370
HP:0001332HP:0004373Focal dystonia1TPK1 CL E G H27010614458Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type)614458C3280866OMIM131817358606370
HP:0001332HP:0007325Generalized dystonia1TPK1 CL E G H27010614458Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type)614458C3280866OMIM131817358606370
HP:0001332HP:0032005Hemidystonia1TPK1 CL E G H27010614458Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type)614458C3280866OMIM131817358606370
HP:0001332HP:0002451Limb dystonia1TPK1 CL E G H27010614458Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type)614458C3280866OMIM131817358606370
HP:0001332HP:0010553Oculogyric crisis1TPK1 CL E G H27010614458Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type)614458C3280866OMIM131817358606370
HP:0001332HP:0002268Paroxysmal dystonia1TPK1 CL E G H27010614458Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type)614458C3280866OMIM131817358606370
HP:0001332HP:0001304Torsion dystonia1TPK1 CL E G H27010614458Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type)614458C3280866OMIM131817358606370
HP:0001332HP:0002530Axial dystonia1TRAPPC11 CL E G H60684615356Limb-girdle muscular dystrophy, type 2S615356C3809236OMIM198325751614138
HP:0001332HP:0004373Focal dystonia1TRAPPC11 CL E G H60684615356Limb-girdle muscular dystrophy, type 2S615356C3809236OMIM198325751614138
HP:0001332HP:0007325Generalized dystonia1TRAPPC11 CL E G H60684615356Limb-girdle muscular dystrophy, type 2S615356C3809236OMIM198325751614138
HP:0001332HP:0032005Hemidystonia1TRAPPC11 CL E G H60684615356Limb-girdle muscular dystrophy, type 2S615356C3809236OMIM198325751614138
HP:0001332HP:0002451Limb dystonia1TRAPPC11 CL E G H60684615356Limb-girdle muscular dystrophy, type 2S615356C3809236OMIM198325751614138
HP:0001332HP:0010553Oculogyric crisis1TRAPPC11 CL E G H60684615356Limb-girdle muscular dystrophy, type 2S615356C3809236OMIM198325751614138
HP:0001332HP:0002268Paroxysmal dystonia1TRAPPC11 CL E G H60684615356Limb-girdle muscular dystrophy, type 2S615356C3809236OMIM198325751614138
HP:0001332HP:0001304Torsion dystonia1TRAPPC11 CL E G H60684615356Limb-girdle muscular dystrophy, type 2S615356C3809236OMIM198325751614138
HP:0001332HP:0002530Axial dystonia1TRAPPC12 CL E G H51112617669ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND SPASTICITY617669C4540059OMIM120224284614139
HP:0001332HP:0004373Focal dystonia1TRAPPC12 CL E G H51112617669ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND SPASTICITY617669C4540059OMIM120224284614139
HP:0001332HP:0007325Generalized dystonia1TRAPPC12 CL E G H51112617669ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND SPASTICITY617669C4540059OMIM120224284614139
HP:0001332HP:0032005Hemidystonia1TRAPPC12 CL E G H51112617669ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND SPASTICITY617669C4540059OMIM120224284614139
HP:0001332HP:0002451Limb dystonia1TRAPPC12 CL E G H51112617669ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND SPASTICITY617669C4540059OMIM120224284614139
HP:0001332HP:0010553Oculogyric crisis1TRAPPC12 CL E G H51112617669ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND SPASTICITY617669C4540059OMIM120224284614139
HP:0001332HP:0002268Paroxysmal dystonia1TRAPPC12 CL E G H51112617669ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND SPASTICITY617669C4540059OMIM120224284614139
HP:0001332HP:0001304Torsion dystonia1TRAPPC12 CL E G H51112617669ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND SPASTICITY617669C4540059OMIM120224284614139
HP:0001332HP:0002530Axial dystonia1TREX1 CL E G H1127751ORPHA141812269606609
HP:0001332HP:0004373Focal dystonia1TREX1 CL E G H1127751ORPHA141812269606609
HP:0001332HP:0007325Generalized dystonia1TREX1 CL E G H1127751ORPHA141812269606609
HP:0001332HP:0032005Hemidystonia1TREX1 CL E G H1127751ORPHA141812269606609
HP:0001332HP:0002451Limb dystonia1TREX1 CL E G H1127751ORPHA141812269606609
HP:0001332HP:0010553Oculogyric crisis1TREX1 CL E G H1127751ORPHA141812269606609
HP:0001332HP:0002268Paroxysmal dystonia1TREX1 CL E G H1127751ORPHA141812269606609
HP:0001332HP:0001304Torsion dystonia1TREX1 CL E G H1127751ORPHA141812269606609
HP:0001332HP:0002530Axial dystonia1TREX1 CL E G H11277225750Aicardi Goutieres syndrome 1225750C0796126OMIM141812269606609
HP:0001332HP:0004373Focal dystonia1TREX1 CL E G H11277225750Aicardi Goutieres syndrome 1225750C0796126OMIM141812269606609
HP:0001332HP:0007325Generalized dystonia1TREX1 CL E G H11277225750Aicardi Goutieres syndrome 1225750C0796126OMIM141812269606609
HP:0001332HP:0032005Hemidystonia1TREX1 CL E G H11277225750Aicardi Goutieres syndrome 1225750C0796126OMIM141812269606609
HP:0001332HP:0002451Limb dystonia1TREX1 CL E G H11277225750Aicardi Goutieres syndrome 1225750C0796126OMIM141812269606609
HP:0001332HP:0010553Oculogyric crisis1TREX1 CL E G H11277225750Aicardi Goutieres syndrome 1225750C0796126OMIM141812269606609
HP:0001332HP:0002268Paroxysmal dystonia1TREX1 CL E G H11277225750Aicardi Goutieres syndrome 1225750C0796126OMIM141812269606609
HP:0001332HP:0001304Torsion dystonia1TREX1 CL E G H11277225750Aicardi Goutieres syndrome 1225750C0796126OMIM141812269606609
HP:0001332HP:0002530Axial dystonia1TRIT1 CL E G H54802617873COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 35617873CN807948OMIM111320286617840
HP:0001332HP:0004373Focal dystonia1TRIT1 CL E G H54802617873COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 35617873CN807948OMIM111320286617840
HP:0001332HP:0007325Generalized dystonia1TRIT1 CL E G H54802617873COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 35617873CN807948OMIM111320286617840
HP:0001332HP:0032005Hemidystonia1TRIT1 CL E G H54802617873COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 35617873CN807948OMIM111320286617840
HP:0001332HP:0002451Limb dystonia1TRIT1 CL E G H54802617873COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 35617873CN807948OMIM111320286617840
HP:0001332HP:0010553Oculogyric crisis1TRIT1 CL E G H54802617873COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 35617873CN807948OMIM111320286617840
HP:0001332HP:0002268Paroxysmal dystonia1TRIT1 CL E G H54802617873COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 35617873CN807948OMIM111320286617840
HP:0001332HP:0001304Torsion dystonia1TRIT1 CL E G H54802617873COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 35617873CN807948OMIM111320286617840
HP:0001332HP:0002530Axial dystonia1TSEN2 CL E G H80746612389Pontocerebellar hypoplasia type 2B612389C2676466OMIM128028422608753
HP:0001332HP:0004373Focal dystonia1TSEN2 CL E G H80746612389Pontocerebellar hypoplasia type 2B612389C2676466OMIM128028422608753
HP:0001332HP:0007325Generalized dystonia1TSEN2 CL E G H80746612389Pontocerebellar hypoplasia type 2B612389C2676466OMIM128028422608753
HP:0001332HP:0032005Hemidystonia1TSEN2 CL E G H80746612389Pontocerebellar hypoplasia type 2B612389C2676466OMIM128028422608753
HP:0001332HP:0002451Limb dystonia1TSEN2 CL E G H80746612389Pontocerebellar hypoplasia type 2B612389C2676466OMIM128028422608753
HP:0001332HP:0010553Oculogyric crisis1TSEN2 CL E G H80746612389Pontocerebellar hypoplasia type 2B612389C2676466OMIM128028422608753
HP:0001332HP:0002268Paroxysmal dystonia1TSEN2 CL E G H80746612389Pontocerebellar hypoplasia type 2B612389C2676466OMIM128028422608753
HP:0001332HP:0001304Torsion dystonia1TSEN2 CL E G H80746612389Pontocerebellar hypoplasia type 2B612389C2676466OMIM128028422608753
HP:0001332HP:0002530Axial dystonia1TSEN34 CL E G H79042612390Pontocerebellar hypoplasia type 2C612390C2676465OMIM116815506608754
HP:0001332HP:0004373Focal dystonia1TSEN34 CL E G H79042612390Pontocerebellar hypoplasia type 2C612390C2676465OMIM116815506608754
HP:0001332HP:0007325Generalized dystonia1TSEN34 CL E G H79042612390Pontocerebellar hypoplasia type 2C612390C2676465OMIM116815506608754
HP:0001332HP:0032005Hemidystonia1TSEN34 CL E G H79042612390Pontocerebellar hypoplasia type 2C612390C2676465OMIM116815506608754
HP:0001332HP:0002451Limb dystonia1TSEN34 CL E G H79042612390Pontocerebellar hypoplasia type 2C612390C2676465OMIM116815506608754
HP:0001332HP:0010553Oculogyric crisis1TSEN34 CL E G H79042612390Pontocerebellar hypoplasia type 2C612390C2676465OMIM116815506608754
HP:0001332HP:0002268Paroxysmal dystonia1TSEN34 CL E G H79042612390Pontocerebellar hypoplasia type 2C612390C2676465OMIM116815506608754
HP:0001332HP:0001304Torsion dystonia1TSEN34 CL E G H79042612390Pontocerebellar hypoplasia type 2C612390C2676465OMIM116815506608754
HP:0001332HP:0002530Axial dystonia1TSFM CL E G H10102610505Combined oxidative phosphorylation deficiency 3610505C1864840OMIM143412367604723
HP:0001332HP:0004373Focal dystonia1TSFM CL E G H10102610505Combined oxidative phosphorylation deficiency 3610505C1864840OMIM143412367604723
HP:0001332HP:0007325Generalized dystonia1TSFM CL E G H10102610505Combined oxidative phosphorylation deficiency 3610505C1864840OMIM143412367604723
HP:0001332HP:0032005Hemidystonia1TSFM CL E G H10102610505Combined oxidative phosphorylation deficiency 3610505C1864840OMIM143412367604723
HP:0001332HP:0002451Limb dystonia1TSFM CL E G H10102610505Combined oxidative phosphorylation deficiency 3610505C1864840OMIM143412367604723
HP:0001332HP:0010553Oculogyric crisis1TSFM CL E G H10102610505Combined oxidative phosphorylation deficiency 3610505C1864840OMIM143412367604723
HP:0001332HP:0002268Paroxysmal dystonia1TSFM CL E G H10102610505Combined oxidative phosphorylation deficiency 3610505C1864840OMIM143412367604723
HP:0001332HP:0001304Torsion dystonia1TSFM CL E G H10102610505Combined oxidative phosphorylation deficiency 3610505C1864840OMIM143412367604723
HP:0001332HP:0002530Axial dystonia1TTC19 CL E G H54902615157Mitochondrial complex III deficiency, nuclear type 2615157C3554605OMIM134326006613814
HP:0001332HP:0004373Focal dystonia1TTC19 CL E G H54902615157Mitochondrial complex III deficiency, nuclear type 2615157C3554605OMIM134326006613814
HP:0001332HP:0007325Generalized dystonia1TTC19 CL E G H54902615157Mitochondrial complex III deficiency, nuclear type 2615157C3554605OMIM134326006613814
HP:0001332HP:0032005Hemidystonia1TTC19 CL E G H54902615157Mitochondrial complex III deficiency, nuclear type 2615157C3554605OMIM134326006613814
HP:0001332HP:0002451Limb dystonia1TTC19 CL E G H54902615157Mitochondrial complex III deficiency, nuclear type 2615157C3554605OMIM134326006613814
HP:0001332HP:0010553Oculogyric crisis1TTC19 CL E G H54902615157Mitochondrial complex III deficiency, nuclear type 2615157C3554605OMIM134326006613814
HP:0001332HP:0002268Paroxysmal dystonia1TTC19 CL E G H54902615157Mitochondrial complex III deficiency, nuclear type 2615157C3554605OMIM134326006613814
HP:0001332HP:0001304Torsion dystonia1TTC19 CL E G H54902615157Mitochondrial complex III deficiency, nuclear type 2615157C3554605OMIM134326006613814
HP:0001332HP:0002530Axial dystonia1TUBB4A CL E G H10382612438Leukodystrophy, hypomyelinating, 6612438C2676244OMIM127220774602662
HP:0001332HP:0004373Focal dystonia1TUBB4A CL E G H10382612438Leukodystrophy, hypomyelinating, 6612438C2676244OMIM127220774602662
HP:0001332HP:0007325Generalized dystonia1TUBB4A CL E G H10382612438Leukodystrophy, hypomyelinating, 6612438C2676244OMIM127220774602662
HP:0001332HP:0032005Hemidystonia1TUBB4A CL E G H10382612438Leukodystrophy, hypomyelinating, 6612438C2676244OMIM127220774602662
HP:0001332HP:0002451Limb dystonia1TUBB4A CL E G H10382612438Leukodystrophy, hypomyelinating, 6612438C2676244OMIM127220774602662
HP:0001332HP:0010553Oculogyric crisis1TUBB4A CL E G H10382612438Leukodystrophy, hypomyelinating, 6612438C2676244OMIM127220774602662
HP:0001332HP:0002268Paroxysmal dystonia1TUBB4A CL E G H10382612438Leukodystrophy, hypomyelinating, 6612438C2676244OMIM127220774602662
HP:0001332HP:0001304Torsion dystonia1TUBB4A CL E G H10382612438Leukodystrophy, hypomyelinating, 6612438C2676244OMIM127220774602662
HP:0001332HP:0002530Axial dystonia1TXN2 CL E G H25828616811Combined oxidative phosphorylation deficiency 29616811C4225200OMIM17617772609063
HP:0001332HP:0004373Focal dystonia1TXN2 CL E G H25828616811Combined oxidative phosphorylation deficiency 29616811C4225200OMIM17617772609063
HP:0001332HP:0007325Generalized dystonia1TXN2 CL E G H25828616811Combined oxidative phosphorylation deficiency 29616811C4225200OMIM17617772609063
HP:0001332HP:0032005Hemidystonia1TXN2 CL E G H25828616811Combined oxidative phosphorylation deficiency 29616811C4225200OMIM17617772609063
HP:0001332HP:0002451Limb dystonia1TXN2 CL E G H25828616811Combined oxidative phosphorylation deficiency 29616811C4225200OMIM17617772609063
HP:0001332HP:0010553Oculogyric crisis1TXN2 CL E G H25828616811Combined oxidative phosphorylation deficiency 29616811C4225200OMIM17617772609063
HP:0001332HP:0002268Paroxysmal dystonia1TXN2 CL E G H25828616811Combined oxidative phosphorylation deficiency 29616811C4225200OMIM17617772609063
HP:0001332HP:0001304Torsion dystonia1TXN2 CL E G H25828616811Combined oxidative phosphorylation deficiency 29616811C4225200OMIM17617772609063
HP:0001332HP:0002530Axial dystonia1UBA5 CL E G H79876617132Epileptic encephalopathy, early infantile, 44617132C4310700OMIM122323230610552
HP:0001332HP:0004373Focal dystonia1UBA5 CL E G H79876617132Epileptic encephalopathy, early infantile, 44617132C4310700OMIM122323230610552
HP:0001332HP:0007325Generalized dystonia1UBA5 CL E G H79876617132Epileptic encephalopathy, early infantile, 44617132C4310700OMIM122323230610552
HP:0001332HP:0032005Hemidystonia1UBA5 CL E G H79876617132Epileptic encephalopathy, early infantile, 44617132C4310700OMIM122323230610552
HP:0001332HP:0002451Limb dystonia1UBA5 CL E G H79876617132Epileptic encephalopathy, early infantile, 44617132C4310700OMIM122323230610552
HP:0001332HP:0010553Oculogyric crisis1UBA5 CL E G H79876617132Epileptic encephalopathy, early infantile, 44617132C4310700OMIM122323230610552
HP:0001332HP:0002268Paroxysmal dystonia1UBA5 CL E G H79876617132Epileptic encephalopathy, early infantile, 44617132C4310700OMIM122323230610552
HP:0001332HP:0001304Torsion dystonia1UBA5 CL E G H79876617132Epileptic encephalopathy, early infantile, 44617132C4310700OMIM122323230610552
HP:0001332HP:0002530Axial dystonia1UBQLN2 CL E G H29978300857Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia300857C3275459OMIM127312509300264
HP:0001332HP:0004373Focal dystonia1UBQLN2 CL E G H29978300857Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia300857C3275459OMIM127312509300264
HP:0001332HP:0007325Generalized dystonia1UBQLN2 CL E G H29978300857Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia300857C3275459OMIM127312509300264
HP:0001332HP:0032005Hemidystonia1UBQLN2 CL E G H29978300857Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia300857C3275459OMIM127312509300264
HP:0001332HP:0002451Limb dystonia1UBQLN2 CL E G H29978300857Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia300857C3275459OMIM127312509300264
HP:0001332HP:0010553Oculogyric crisis1UBQLN2 CL E G H29978300857Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia300857C3275459OMIM127312509300264
HP:0001332HP:0002268Paroxysmal dystonia1UBQLN2 CL E G H29978300857Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia300857C3275459OMIM127312509300264
HP:0001332HP:0001304Torsion dystonia1UBQLN2 CL E G H29978300857Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia300857C3275459OMIM127312509300264
HP:0001332HP:0002530Axial dystonia1UBTF CL E G H7343617672NEURODEGENERATION, CHILDHOOD-ONSET, WITH BRAIN ATROPHY617672C4540086OMIM18412511600673
HP:0001332HP:0004373Focal dystonia1UBTF CL E G H7343617672NEURODEGENERATION, CHILDHOOD-ONSET, WITH BRAIN ATROPHY617672C4540086OMIM18412511600673
HP:0001332HP:0007325Generalized dystonia1UBTF CL E G H7343617672NEURODEGENERATION, CHILDHOOD-ONSET, WITH BRAIN ATROPHY617672C4540086OMIM18412511600673
HP:0001332HP:0032005Hemidystonia1UBTF CL E G H7343617672NEURODEGENERATION, CHILDHOOD-ONSET, WITH BRAIN ATROPHY617672C4540086OMIM18412511600673
HP:0001332HP:0002451Limb dystonia1UBTF CL E G H7343617672NEURODEGENERATION, CHILDHOOD-ONSET, WITH BRAIN ATROPHY617672C4540086OMIM18412511600673
HP:0001332HP:0010553Oculogyric crisis1UBTF CL E G H7343617672NEURODEGENERATION, CHILDHOOD-ONSET, WITH BRAIN ATROPHY617672C4540086OMIM18412511600673
HP:0001332HP:0002268Paroxysmal dystonia1UBTF CL E G H7343617672NEURODEGENERATION, CHILDHOOD-ONSET, WITH BRAIN ATROPHY617672C4540086OMIM18412511600673
HP:0001332HP:0001304Torsion dystonia1UBTF CL E G H7343617672NEURODEGENERATION, CHILDHOOD-ONSET, WITH BRAIN ATROPHY617672C4540086OMIM18412511600673
HP:0001332HP:0002530Axial dystonia1UFM1 CL E G H51569617899LEUKODYSTROPHY, HYPOMYELINATING, 14617899CN845004OMIM17720597610553
HP:0001332HP:0004373Focal dystonia1UFM1 CL E G H51569617899LEUKODYSTROPHY, HYPOMYELINATING, 14617899CN845004OMIM17720597610553
HP:0001332HP:0007325Generalized dystonia1UFM1 CL E G H51569617899LEUKODYSTROPHY, HYPOMYELINATING, 14617899CN845004OMIM17720597610553
HP:0001332HP:0032005Hemidystonia1UFM1 CL E G H51569617899LEUKODYSTROPHY, HYPOMYELINATING, 14617899CN845004OMIM17720597610553
HP:0001332HP:0002451Limb dystonia1UFM1 CL E G H51569617899LEUKODYSTROPHY, HYPOMYELINATING, 14617899CN845004OMIM17720597610553
HP:0001332HP:0010553Oculogyric crisis1UFM1 CL E G H51569617899LEUKODYSTROPHY, HYPOMYELINATING, 14617899CN845004OMIM17720597610553
HP:0001332HP:0002268Paroxysmal dystonia1UFM1 CL E G H51569617899LEUKODYSTROPHY, HYPOMYELINATING, 14617899CN845004OMIM17720597610553
HP:0001332HP:0001304Torsion dystonia1UFM1 CL E G H51569617899LEUKODYSTROPHY, HYPOMYELINATING, 14617899CN845004OMIM17720597610553
HP:0001332HP:0002530Axial dystonia1UPB1 CL E G H51733613161Deficiency of beta-ureidopropionase613161C1291512OMIM127116297606673
HP:0001332HP:0004373Focal dystonia1UPB1 CL E G H51733613161Deficiency of beta-ureidopropionase613161C1291512OMIM127116297606673
HP:0001332HP:0007325Generalized dystonia1UPB1 CL E G H51733613161Deficiency of beta-ureidopropionase613161C1291512OMIM127116297606673
HP:0001332HP:0032005Hemidystonia1UPB1 CL E G H51733613161Deficiency of beta-ureidopropionase613161C1291512OMIM127116297606673
HP:0001332HP:0002451Limb dystonia1UPB1 CL E G H51733613161Deficiency of beta-ureidopropionase613161C1291512OMIM127116297606673
HP:0001332HP:0010553Oculogyric crisis1UPB1 CL E G H51733613161Deficiency of beta-ureidopropionase613161C1291512OMIM127116297606673
HP:0001332HP:0002268Paroxysmal dystonia1UPB1 CL E G H51733613161Deficiency of beta-ureidopropionase613161C1291512OMIM127116297606673
HP:0001332HP:0001304Torsion dystonia1UPB1 CL E G H51733613161Deficiency of beta-ureidopropionase613161C1291512OMIM127116297606673
HP:0001332HP:0002530Axial dystonia1UQCRQ CL E G H27089615159Mitochondrial complex III deficiency, nuclear type 4615159C3554607OMIM110229594612080
HP:0001332HP:0004373Focal dystonia1UQCRQ CL E G H27089615159Mitochondrial complex III deficiency, nuclear type 4615159C3554607OMIM110229594612080
HP:0001332HP:0007325Generalized dystonia1UQCRQ CL E G H27089615159Mitochondrial complex III deficiency, nuclear type 4615159C3554607OMIM110229594612080
HP:0001332HP:0032005Hemidystonia1UQCRQ CL E G H27089615159Mitochondrial complex III deficiency, nuclear type 4615159C3554607OMIM110229594612080
HP:0001332HP:0002451Limb dystonia1UQCRQ CL E G H27089615159Mitochondrial complex III deficiency, nuclear type 4615159C3554607OMIM110229594612080
HP:0001332HP:0010553Oculogyric crisis1UQCRQ CL E G H27089615159Mitochondrial complex III deficiency, nuclear type 4615159C3554607OMIM110229594612080
HP:0001332HP:0002268Paroxysmal dystonia1UQCRQ CL E G H27089615159Mitochondrial complex III deficiency, nuclear type 4615159C3554607OMIM110229594612080
HP:0001332HP:0001304Torsion dystonia1UQCRQ CL E G H27089615159Mitochondrial complex III deficiency, nuclear type 4615159C3554607OMIM110229594612080
HP:0001332HP:0002530Axial dystonia1VAMP1 CL E G H6843108600Ataxia, spastic, 1, autosomal dominant108600C1970107OMIM114112642185880
HP:0001332HP:0004373Focal dystonia1VAMP1 CL E G H6843108600Ataxia, spastic, 1, autosomal dominant108600C1970107OMIM114112642185880
HP:0001332HP:0007325Generalized dystonia1VAMP1 CL E G H6843108600Ataxia, spastic, 1, autosomal dominant108600C1970107OMIM114112642185880
HP:0001332HP:0032005Hemidystonia1VAMP1 CL E G H6843108600Ataxia, spastic, 1, autosomal dominant108600C1970107OMIM114112642185880
HP:0001332HP:0002451Limb dystonia1VAMP1 CL E G H6843108600Ataxia, spastic, 1, autosomal dominant108600C1970107OMIM114112642185880
HP:0001332HP:0010553Oculogyric crisis1VAMP1 CL E G H6843108600Ataxia, spastic, 1, autosomal dominant108600C1970107OMIM114112642185880
HP:0001332HP:0002268Paroxysmal dystonia1VAMP1 CL E G H6843108600Ataxia, spastic, 1, autosomal dominant108600C1970107OMIM114112642185880
HP:0001332HP:0001304Torsion dystonia1VAMP1 CL E G H6843108600Ataxia, spastic, 1, autosomal dominant108600C1970107OMIM114112642185880
HP:0001332HP:0002530Axial dystonia1VCP CL E G H7415167320Inclusion body myopathy with early-onset paget disease and frontotemporal dementia167320C1833662OMIM160712666601023
HP:0001332HP:0004373Focal dystonia1VCP CL E G H7415167320Inclusion body myopathy with early-onset paget disease and frontotemporal dementia167320C1833662OMIM160712666601023
HP:0001332HP:0007325Generalized dystonia1VCP CL E G H7415167320Inclusion body myopathy with early-onset paget disease and frontotemporal dementia167320C1833662OMIM160712666601023
HP:0001332HP:0032005Hemidystonia1VCP CL E G H7415167320Inclusion body myopathy with early-onset paget disease and frontotemporal dementia167320C1833662OMIM160712666601023
HP:0001332HP:0002451Limb dystonia1VCP CL E G H7415167320Inclusion body myopathy with early-onset paget disease and frontotemporal dementia167320C1833662OMIM160712666601023
HP:0001332HP:0010553Oculogyric crisis1VCP CL E G H7415167320Inclusion body myopathy with early-onset paget disease and frontotemporal dementia167320C1833662OMIM160712666601023
HP:0001332HP:0002268Paroxysmal dystonia1VCP CL E G H7415167320Inclusion body myopathy with early-onset paget disease and frontotemporal dementia167320C1833662OMIM160712666601023
HP:0001332HP:0001304Torsion dystonia1VCP CL E G H7415167320Inclusion body myopathy with early-onset paget disease and frontotemporal dementia167320C1833662OMIM160712666601023
HP:0001332HP:0002530Axial dystonia1VPS13A CL E G H232302388ORPHA123621908605978
HP:0001332HP:0004373Focal dystonia1VPS13A CL E G H232302388ORPHA123621908605978
HP:0001332HP:0007325Generalized dystonia1VPS13A CL E G H232302388ORPHA123621908605978
HP:0001332HP:0032005Hemidystonia1VPS13A CL E G H232302388ORPHA123621908605978
HP:0001332HP:0002451Limb dystonia1VPS13A CL E G H232302388ORPHA123621908605978
HP:0001332HP:0010553Oculogyric crisis1VPS13A CL E G H232302388ORPHA123621908605978
HP:0001332HP:0002268Paroxysmal dystonia1VPS13A CL E G H232302388ORPHA123621908605978
HP:0001332HP:0001304Torsion dystonia1VPS13A CL E G H232302388ORPHA123621908605978
HP:0001332HP:0002530Axial dystonia1VPS13A CL E G H23230200150Choreoacanthocytosis200150C0393576OMIM123621908605978
HP:0001332HP:0004373Focal dystonia1VPS13A CL E G H23230200150Choreoacanthocytosis200150C0393576OMIM123621908605978
HP:0001332HP:0007325Generalized dystonia1VPS13A CL E G H23230200150Choreoacanthocytosis200150C0393576OMIM123621908605978
HP:0001332HP:0032005Hemidystonia1VPS13A CL E G H23230200150Choreoacanthocytosis200150C0393576OMIM123621908605978
HP:0001332HP:0002451Limb dystonia1VPS13A CL E G H23230200150Choreoacanthocytosis200150C0393576OMIM123621908605978
HP:0001332HP:0010553Oculogyric crisis1VPS13A CL E G H23230200150Choreoacanthocytosis200150C0393576OMIM123621908605978
HP:0001332HP:0002268Paroxysmal dystonia1VPS13A CL E G H23230200150Choreoacanthocytosis200150C0393576OMIM123621908605978
HP:0001332HP:0001304Torsion dystonia1VPS13A CL E G H23230200150Choreoacanthocytosis200150C0393576OMIM123621908605978
HP:0001332HP:0002530Axial dystonia1VPS13D CL E G H55187607317Spinocerebellar ataxia autosomal recessive 4607317C1846492OMIM1103423595608877
HP:0001332HP:0004373Focal dystonia1VPS13D CL E G H55187607317Spinocerebellar ataxia autosomal recessive 4607317C1846492OMIM1103423595608877
HP:0001332HP:0007325Generalized dystonia1VPS13D CL E G H55187607317Spinocerebellar ataxia autosomal recessive 4607317C1846492OMIM1103423595608877
HP:0001332HP:0032005Hemidystonia1VPS13D CL E G H55187607317Spinocerebellar ataxia autosomal recessive 4607317C1846492OMIM1103423595608877
HP:0001332HP:0002451Limb dystonia1VPS13D CL E G H55187607317Spinocerebellar ataxia autosomal recessive 4607317C1846492OMIM1103423595608877
HP:0001332HP:0010553Oculogyric crisis1VPS13D CL E G H55187607317Spinocerebellar ataxia autosomal recessive 4607317C1846492OMIM1103423595608877
HP:0001332HP:0002268Paroxysmal dystonia1VPS13D CL E G H55187607317Spinocerebellar ataxia autosomal recessive 4607317C1846492OMIM1103423595608877
HP:0001332HP:0001304Torsion dystonia1VPS13D CL E G H55187607317Spinocerebellar ataxia autosomal recessive 4607317C1846492OMIM1103423595608877
HP:0001332HP:0002530Axial dystonia1WARS2 CL E G H10352617710NEURODEVELOPMENTAL DISORDER, MITOCHONDRIAL, WITH ABNORMAL MOVEMENTS AND LACTIC ACIDOSIS, WITH OR WITHOUT SEIZURES617710C4540192OMIM114412730604733
HP:0001332HP:0004373Focal dystonia1WARS2 CL E G H10352617710NEURODEVELOPMENTAL DISORDER, MITOCHONDRIAL, WITH ABNORMAL MOVEMENTS AND LACTIC ACIDOSIS, WITH OR WITHOUT SEIZURES617710C4540192OMIM114412730604733
HP:0001332HP:0007325Generalized dystonia1WARS2 CL E G H10352617710NEURODEVELOPMENTAL DISORDER, MITOCHONDRIAL, WITH ABNORMAL MOVEMENTS AND LACTIC ACIDOSIS, WITH OR WITHOUT SEIZURES617710C4540192OMIM114412730604733
HP:0001332HP:0032005Hemidystonia1WARS2 CL E G H10352617710NEURODEVELOPMENTAL DISORDER, MITOCHONDRIAL, WITH ABNORMAL MOVEMENTS AND LACTIC ACIDOSIS, WITH OR WITHOUT SEIZURES617710C4540192OMIM114412730604733
HP:0001332HP:0002451Limb dystonia1WARS2 CL E G H10352617710NEURODEVELOPMENTAL DISORDER, MITOCHONDRIAL, WITH ABNORMAL MOVEMENTS AND LACTIC ACIDOSIS, WITH OR WITHOUT SEIZURES617710C4540192OMIM114412730604733
HP:0001332HP:0010553Oculogyric crisis1WARS2 CL E G H10352617710NEURODEVELOPMENTAL DISORDER, MITOCHONDRIAL, WITH ABNORMAL MOVEMENTS AND LACTIC ACIDOSIS, WITH OR WITHOUT SEIZURES617710C4540192OMIM114412730604733
HP:0001332HP:0002268Paroxysmal dystonia1WARS2 CL E G H10352617710NEURODEVELOPMENTAL DISORDER, MITOCHONDRIAL, WITH ABNORMAL MOVEMENTS AND LACTIC ACIDOSIS, WITH OR WITHOUT SEIZURES617710C4540192OMIM114412730604733
HP:0001332HP:0001304Torsion dystonia1WARS2 CL E G H10352617710NEURODEVELOPMENTAL DISORDER, MITOCHONDRIAL, WITH ABNORMAL MOVEMENTS AND LACTIC ACIDOSIS, WITH OR WITHOUT SEIZURES617710C4540192OMIM114412730604733
HP:0001332HP:0002530Axial dystonia1WDR45 CL E G H11152329284ORPHA158728912300526
HP:0001332HP:0004373Focal dystonia1WDR45 CL E G H11152329284ORPHA158728912300526
HP:0001332HP:0007325Generalized dystonia1WDR45 CL E G H11152329284ORPHA158728912300526
HP:0001332HP:0032005Hemidystonia1WDR45 CL E G H11152329284ORPHA158728912300526
HP:0001332HP:0002451Limb dystonia1WDR45 CL E G H11152329284ORPHA158728912300526
HP:0001332HP:0010553Oculogyric crisis1WDR45 CL E G H11152329284ORPHA158728912300526
HP:0001332HP:0002268Paroxysmal dystonia1WDR45 CL E G H11152329284ORPHA158728912300526
HP:0001332HP:0001304Torsion dystonia1WDR45 CL E G H11152329284ORPHA158728912300526
HP:0001332HP:0002530Axial dystonia1WDR45 CL E G H11152300894Neurodegeneration with brain iron accumulation 5300894C3550973OMIM158728912300526
HP:0001332HP:0004373Focal dystonia1WDR45 CL E G H11152300894Neurodegeneration with brain iron accumulation 5300894C3550973OMIM158728912300526
HP:0001332HP:0007325Generalized dystonia1WDR45 CL E G H11152300894Neurodegeneration with brain iron accumulation 5300894C3550973OMIM158728912300526
HP:0001332HP:0032005Hemidystonia1WDR45 CL E G H11152300894Neurodegeneration with brain iron accumulation 5300894C3550973OMIM158728912300526
HP:0001332HP:0002451Limb dystonia1WDR45 CL E G H11152300894Neurodegeneration with brain iron accumulation 5300894C3550973OMIM158728912300526
HP:0001332HP:0010553Oculogyric crisis1WDR45 CL E G H11152300894Neurodegeneration with brain iron accumulation 5300894C3550973OMIM158728912300526
HP:0001332HP:0002268Paroxysmal dystonia1WDR45 CL E G H11152300894Neurodegeneration with brain iron accumulation 5300894C3550973OMIM158728912300526
HP:0001332HP:0001304Torsion dystonia1WDR45 CL E G H11152300894Neurodegeneration with brain iron accumulation 5300894C3550973OMIM158728912300526
HP:0001332HP:0002530Axial dystonia1YY1 CL E G H7528617557GABRIELE-DE VRIES SYNDROME617557C4479652OMIM111712856600013
HP:0001332HP:0004373Focal dystonia1YY1 CL E G H7528617557GABRIELE-DE VRIES SYNDROME617557C4479652OMIM111712856600013
HP:0001332HP:0007325Generalized dystonia1YY1 CL E G H7528617557GABRIELE-DE VRIES SYNDROME617557C4479652OMIM111712856600013
HP:0001332HP:0032005Hemidystonia1YY1 CL E G H7528617557GABRIELE-DE VRIES SYNDROME617557C4479652OMIM111712856600013
HP:0001332HP:0002451Limb dystonia1YY1 CL E G H7528617557GABRIELE-DE VRIES SYNDROME617557C4479652OMIM111712856600013
HP:0001332HP:0010553Oculogyric crisis1YY1 CL E G H7528617557GABRIELE-DE VRIES SYNDROME617557C4479652OMIM111712856600013
HP:0001332HP:0002268Paroxysmal dystonia1YY1 CL E G H7528617557GABRIELE-DE VRIES SYNDROME617557C4479652OMIM111712856600013
HP:0001332HP:0001304Torsion dystonia1YY1 CL E G H7528617557GABRIELE-DE VRIES SYNDROME617557C4479652OMIM111712856600013
HP:0001332HP:0002530Axial dystonia1ZC4H2 CL E G H55906314580Wieacker Wolff syndrome314580C0796200OMIM127924931300897
HP:0001332HP:0004373Focal dystonia1ZC4H2 CL E G H55906314580Wieacker Wolff syndrome314580C0796200OMIM127924931300897
HP:0001332HP:0007325Generalized dystonia1ZC4H2 CL E G H55906314580Wieacker Wolff syndrome314580C0796200OMIM127924931300897
HP:0001332HP:0032005Hemidystonia1ZC4H2 CL E G H55906314580Wieacker Wolff syndrome314580C0796200OMIM127924931300897
HP:0001332HP:0002451Limb dystonia1ZC4H2 CL E G H55906314580Wieacker Wolff syndrome314580C0796200OMIM127924931300897
HP:0001332HP:0010553Oculogyric crisis1ZC4H2 CL E G H55906314580Wieacker Wolff syndrome314580C0796200OMIM127924931300897
HP:0001332HP:0002268Paroxysmal dystonia1ZC4H2 CL E G H55906314580Wieacker Wolff syndrome314580C0796200OMIM127924931300897
HP:0001332HP:0001304Torsion dystonia1ZC4H2 CL E G H55906314580Wieacker Wolff syndrome314580C0796200OMIM127924931300897
HP:0001332HP:0012049Laryngeal dystonia2AARS2 CL E G H57505615889Leukoencephalopathy, progressive, with ovarian failure615889C4014588OMIM154321022612035
HP:0001332HP:0012179Craniofacial dystonia2AARS2 CL E G H57505615889Leukoencephalopathy, progressive, with ovarian failure615889C4014588OMIM154321022612035
HP:0001332HP:0002356Writer's cramp2AARS2 CL E G H57505615889Leukoencephalopathy, progressive, with ovarian failure615889C4014588OMIM154321022612035
HP:0001332HP:0031960Arm dystonia2AARS2 CL E G H57505615889Leukoencephalopathy, progressive, with ovarian failure615889C4014588OMIM154321022612035
HP:0001332HP:0031959Leg dystonia2AARS2 CL E G H57505615889Leukoencephalopathy, progressive, with ovarian failure615889C4014588OMIM154321022612035
HP:0001332HP:0012049Laryngeal dystonia2ACER3 CL E G H55331617762LEUKODYSTROPHY, PROGRESSIVE, EARLY CHILDHOOD-ONSET617762C4540358OMIM17316066617036
HP:0001332HP:0012179Craniofacial dystonia2ACER3 CL E G H55331617762LEUKODYSTROPHY, PROGRESSIVE, EARLY CHILDHOOD-ONSET617762C4540358OMIM17316066617036
HP:0001332HP:0002356Writer's cramp2ACER3 CL E G H55331617762LEUKODYSTROPHY, PROGRESSIVE, EARLY CHILDHOOD-ONSET617762C4540358OMIM17316066617036
HP:0001332HP:0031960Arm dystonia2ACER3 CL E G H55331617762LEUKODYSTROPHY, PROGRESSIVE, EARLY CHILDHOOD-ONSET617762C4540358OMIM17316066617036
HP:0001332HP:0031959Leg dystonia2ACER3 CL E G H55331617762LEUKODYSTROPHY, PROGRESSIVE, EARLY CHILDHOOD-ONSET617762C4540358OMIM17316066617036
HP:0001332HP:0012049Laryngeal dystonia2ACOX1 CL E G H51264470Pseudoneonatal adrenoleukodystrophy264470C1849678OMIM1665119609751
HP:0001332HP:0012179Craniofacial dystonia2ACOX1 CL E G H51264470Pseudoneonatal adrenoleukodystrophy264470C1849678OMIM1665119609751
HP:0001332HP:0002356Writer's cramp2ACOX1 CL E G H51264470Pseudoneonatal adrenoleukodystrophy264470C1849678OMIM1665119609751
HP:0001332HP:0031960Arm dystonia2ACOX1 CL E G H51264470Pseudoneonatal adrenoleukodystrophy264470C1849678OMIM1665119609751
HP:0001332HP:0031959Leg dystonia2ACOX1 CL E G H51264470Pseudoneonatal adrenoleukodystrophy264470C1849678OMIM1665119609751
HP:0001332HP:0012049Laryngeal dystonia2ADAR CL E G H10351ORPHA11122225146920
HP:0001332HP:0012179Craniofacial dystonia2ADAR CL E G H10351ORPHA11122225146920
HP:0001332HP:0002356Writer's cramp2ADAR CL E G H10351ORPHA11122225146920
HP:0001332HP:0031960Arm dystonia2ADAR CL E G H10351ORPHA11122225146920
HP:0001332HP:0031959Leg dystonia2ADAR CL E G H10351ORPHA11122225146920
HP:0001332HP:0012049Laryngeal dystonia2ADAR CL E G H103225154ORPHA11122225146920
HP:0001332HP:0012179Craniofacial dystonia2ADAR CL E G H103225154ORPHA11122225146920
HP:0001332HP:0002356Writer's cramp2ADAR CL E G H103225154ORPHA11122225146920
HP:0001332HP:0031960Arm dystonia2ADAR CL E G H103225154ORPHA11122225146920
HP:0001332HP:0031959Leg dystonia2ADAR CL E G H103225154ORPHA11122225146920
HP:0001332HP:0012049Laryngeal dystonia2ADAR CL E G H103615010Aicardi-Goutieres syndrome 6615010C3539013OMIM11122225146920
HP:0001332HP:0012179Craniofacial dystonia2ADAR CL E G H103615010Aicardi-Goutieres syndrome 6615010C3539013OMIM11122225146920
HP:0001332HP:0002356Writer's cramp2ADAR CL E G H103615010Aicardi-Goutieres syndrome 6615010C3539013OMIM11122225146920
HP:0001332HP:0031960Arm dystonia2ADAR CL E G H103615010Aicardi-Goutieres syndrome 6615010C3539013OMIM11122225146920
HP:0001332HP:0031959Leg dystonia2ADAR CL E G H103615010Aicardi-Goutieres syndrome 6615010C3539013OMIM11122225146920
HP:0001332HP:0012049Laryngeal dystonia2ADCY5 CL E G H111324588ORPHA1653236600293
HP:0001332HP:0012179Craniofacial dystonia2ADCY5 CL E G H111324588ORPHA1653236600293
HP:0001332HP:0002356Writer's cramp2ADCY5 CL E G H111324588ORPHA1653236600293
HP:0001332HP:0031960Arm dystonia2ADCY5 CL E G H111324588ORPHA1653236600293
HP:0001332HP:0031959Leg dystonia2ADCY5 CL E G H111324588ORPHA1653236600293
HP:0001332HP:0012049Laryngeal dystonia2ADCY5 CL E G H111606703Dyskinesia, familial, with facial myokymia606703C1847627OMIM1653236600293
HP:0001332HP:0012179Craniofacial dystonia2ADCY5 CL E G H111606703Dyskinesia, familial, with facial myokymia606703C1847627OMIM1653236600293
HP:0001332HP:0002356Writer's cramp2ADCY5 CL E G H111606703Dyskinesia, familial, with facial myokymia606703C1847627OMIM1653236600293
HP:0001332HP:0031960Arm dystonia2ADCY5 CL E G H111606703Dyskinesia, familial, with facial myokymia606703C1847627OMIM1653236600293
HP:0001332HP:0031959Leg dystonia2ADCY5 CL E G H111606703Dyskinesia, familial, with facial myokymia606703C1847627OMIM1653236600293
HP:0001332HP:0012049Laryngeal dystonia2AFG3L2 CL E G H10939313772ORPHA1480315604581
HP:0001332HP:0012179Craniofacial dystonia2AFG3L2 CL E G H10939313772ORPHA1480315604581
HP:0001332HP:0002356Writer's cramp2AFG3L2 CL E G H10939313772ORPHA1480315604581
HP:0001332HP:0031960Arm dystonia2AFG3L2 CL E G H10939313772ORPHA1480315604581
HP:0001332HP:0031959Leg dystonia2AFG3L2 CL E G H10939313772ORPHA1480315604581
HP:0001332HP:0012049Laryngeal dystonia2AFG3L2 CL E G H10939614487Spastic ataxia 5, autosomal recessive614487C3280977OMIM1480315604581
HP:0001332HP:0012179Craniofacial dystonia2AFG3L2 CL E G H10939614487Spastic ataxia 5, autosomal recessive614487C3280977OMIM1480315604581
HP:0001332HP:0002356Writer's cramp2AFG3L2 CL E G H10939614487Spastic ataxia 5, autosomal recessive614487C3280977OMIM1480315604581
HP:0001332HP:0031960Arm dystonia2AFG3L2 CL E G H10939614487Spastic ataxia 5, autosomal recessive614487C3280977OMIM1480315604581
HP:0001332HP:0031959Leg dystonia2AFG3L2 CL E G H10939614487Spastic ataxia 5, autosomal recessive614487C3280977OMIM1480315604581
HP:0001332HP:0012049Laryngeal dystonia2ALDH6A1 CL E G H4329614105Methylmalonate semialdehyde dehydrogenase deficiency614105C3279840OMIM12097179603178
HP:0001332HP:0012179Craniofacial dystonia2ALDH6A1 CL E G H4329614105Methylmalonate semialdehyde dehydrogenase deficiency614105C3279840OMIM12097179603178
HP:0001332HP:0002356Writer's cramp2ALDH6A1 CL E G H4329614105Methylmalonate semialdehyde dehydrogenase deficiency614105C3279840OMIM12097179603178
HP:0001332HP:0031960Arm dystonia2ALDH6A1 CL E G H4329614105Methylmalonate semialdehyde dehydrogenase deficiency614105C3279840OMIM12097179603178
HP:0001332HP:0031959Leg dystonia2ALDH6A1 CL E G H4329614105Methylmalonate semialdehyde dehydrogenase deficiency614105C3279840OMIM12097179603178
HP:0001332HP:0012049Laryngeal dystonia2AP3D1 CL E G H8943617050Hermansky-Pudlak syndrome 10617050C4310746OMIM1893568607246
HP:0001332HP:0012179Craniofacial dystonia2AP3D1 CL E G H8943617050Hermansky-Pudlak syndrome 10617050C4310746OMIM1893568607246
HP:0001332HP:0002356Writer's cramp2AP3D1 CL E G H8943617050Hermansky-Pudlak syndrome 10617050C4310746OMIM1893568607246
HP:0001332HP:0031960Arm dystonia2AP3D1 CL E G H8943617050Hermansky-Pudlak syndrome 10617050C4310746OMIM1893568607246
HP:0001332HP:0031959Leg dystonia2AP3D1 CL E G H8943617050Hermansky-Pudlak syndrome 10617050C4310746OMIM1893568607246
HP:0001332HP:0012049Laryngeal dystonia2AP4B1 CL E G H10717280763ORPHA1403572607245
HP:0001332HP:0012179Craniofacial dystonia2AP4B1 CL E G H10717280763ORPHA1403572607245
HP:0001332HP:0002356Writer's cramp2AP4B1 CL E G H10717280763ORPHA1403572607245
HP:0001332HP:0031960Arm dystonia2AP4B1 CL E G H10717280763ORPHA1403572607245
HP:0001332HP:0031959Leg dystonia2AP4B1 CL E G H10717280763ORPHA1403572607245
HP:0001332HP:0012049Laryngeal dystonia2AP4B1 CL E G H10717614066Spastic paraplegia 47, autosomal recessive614066C3279738OMIM1403572607245
HP:0001332HP:0012179Craniofacial dystonia2AP4B1 CL E G H10717614066Spastic paraplegia 47, autosomal recessive614066C3279738OMIM1403572607245
HP:0001332HP:0002356Writer's cramp2AP4B1 CL E G H10717614066Spastic paraplegia 47, autosomal recessive614066C3279738OMIM1403572607245
HP:0001332HP:0031960Arm dystonia2AP4B1 CL E G H10717614066Spastic paraplegia 47, autosomal recessive614066C3279738OMIM1403572607245
HP:0001332HP:0031959Leg dystonia2AP4B1 CL E G H10717614066Spastic paraplegia 47, autosomal recessive614066C3279738OMIM1403572607245
HP:0001332HP:0012049Laryngeal dystonia2AP4E1 CL E G H23431280763ORPHA1509573607244
HP:0001332HP:0012179Craniofacial dystonia2AP4E1 CL E G H23431280763ORPHA1509573607244
HP:0001332HP:0002356Writer's cramp2AP4E1 CL E G H23431280763ORPHA1509573607244
HP:0001332HP:0031960Arm dystonia2AP4E1 CL E G H23431280763ORPHA1509573607244
HP:0001332HP:0031959Leg dystonia2AP4E1 CL E G H23431280763ORPHA1509573607244
HP:0001332HP:0012049Laryngeal dystonia2AP4M1 CL E G H9179280763ORPHA1429574602296
HP:0001332HP:0012179Craniofacial dystonia2AP4M1 CL E G H9179280763ORPHA1429574602296
HP:0001332HP:0002356Writer's cramp2AP4M1 CL E G H9179280763ORPHA1429574602296
HP:0001332HP:0031960Arm dystonia2AP4M1 CL E G H9179280763ORPHA1429574602296
HP:0001332HP:0031959Leg dystonia2AP4M1 CL E G H9179280763ORPHA1429574602296
HP:0001332HP:0012049Laryngeal dystonia2AP4S1 CL E G H11154280763ORPHA1148575607243
HP:0001332HP:0012179Craniofacial dystonia2AP4S1 CL E G H11154280763ORPHA1148575607243
HP:0001332HP:0002356Writer's cramp2AP4S1 CL E G H11154280763ORPHA1148575607243
HP:0001332HP:0031960Arm dystonia2AP4S1 CL E G H11154280763ORPHA1148575607243
HP:0001332HP:0031959Leg dystonia2AP4S1 CL E G H11154280763ORPHA1148575607243
HP:0001332HP:0012049Laryngeal dystonia2APTX CL E G H54840208920Ataxia-oculomotor apraxia type 1208920C1859598OMIM133115984606350
HP:0001332HP:0012179Craniofacial dystonia2APTX CL E G H54840208920Ataxia-oculomotor apraxia type 1208920C1859598OMIM133115984606350
HP:0001332HP:0002356Writer's cramp2APTX CL E G H54840208920Ataxia-oculomotor apraxia type 1208920C1859598OMIM133115984606350
HP:0001332HP:0031960Arm dystonia2APTX CL E G H54840208920Ataxia-oculomotor apraxia type 1208920C1859598OMIM133115984606350
HP:0001332HP:0031959Leg dystonia2APTX CL E G H54840208920Ataxia-oculomotor apraxia type 1208920C1859598OMIM133115984606350
HP:0001332HP:0012049Laryngeal dystonia2ARSA CL E G H410309256ORPHA11140713607574
HP:0001332HP:0012179Craniofacial dystonia2ARSA CL E G H410309256ORPHA11140713607574
HP:0001332HP:0002356Writer's cramp2ARSA CL E G H410309256ORPHA11140713607574
HP:0001332HP:0031960Arm dystonia2ARSA CL E G H410309256ORPHA11140713607574
HP:0001332HP:0031959Leg dystonia2ARSA CL E G H410309256ORPHA11140713607574
HP:0001332HP:0012049Laryngeal dystonia2ARSA CL E G H410309263ORPHA11140713607574
HP:0001332HP:0012179Craniofacial dystonia2ARSA CL E G H410309263ORPHA11140713607574
HP:0001332HP:0002356Writer's cramp2ARSA CL E G H410309263ORPHA11140713607574
HP:0001332HP:0031960Arm dystonia2ARSA CL E G H410309263ORPHA11140713607574
HP:0001332HP:0031959Leg dystonia2ARSA CL E G H410309263ORPHA11140713607574
HP:0001332HP:0012049Laryngeal dystonia2ARSA CL E G H410309271ORPHA11140713607574
HP:0001332HP:0012179Craniofacial dystonia2ARSA CL E G H410309271ORPHA11140713607574
HP:0001332HP:0002356Writer's cramp2ARSA CL E G H410309271ORPHA11140713607574
HP:0001332HP:0031960Arm dystonia2ARSA CL E G H410309271ORPHA11140713607574
HP:0001332HP:0031959Leg dystonia2ARSA CL E G H410309271ORPHA11140713607574
HP:0001332HP:0012049Laryngeal dystonia2ARSA CL E G H410250100Metachromatic leukodystrophy250100C0023522OMIM11140713607574
HP:0001332HP:0012179Craniofacial dystonia2ARSA CL E G H410250100Metachromatic leukodystrophy250100C0023522OMIM11140713607574
HP:0001332HP:0002356Writer's cramp2ARSA CL E G H410250100Metachromatic leukodystrophy250100C0023522OMIM11140713607574
HP:0001332HP:0031960Arm dystonia2ARSA CL E G H410250100Metachromatic leukodystrophy250100C0023522OMIM11140713607574
HP:0001332HP:0031959Leg dystonia2ARSA CL E G H410250100Metachromatic leukodystrophy250100C0023522OMIM11140713607574
HP:0001332HP:0012049Laryngeal dystonia2ARV1 CL E G H64801617020Epileptic encephalopathy, early infantile, 38617020C4310762OMIM18929561611647
HP:0001332HP:0012179Craniofacial dystonia2ARV1 CL E G H64801617020Epileptic encephalopathy, early infantile, 38617020C4310762OMIM18929561611647
HP:0001332HP:0002356Writer's cramp2ARV1 CL E G H64801617020Epileptic encephalopathy, early infantile, 38617020C4310762OMIM18929561611647
HP:0001332HP:0031960Arm dystonia2ARV1 CL E G H64801617020Epileptic encephalopathy, early infantile, 38617020C4310762OMIM18929561611647
HP:0001332HP:0031959Leg dystonia2ARV1 CL E G H64801617020Epileptic encephalopathy, early infantile, 38617020C4310762OMIM18929561611647
HP:0001332HP:0012049Laryngeal dystonia2ARX CL E G H170302308350Epileptic encephalopathy, early infantile, 1308350C3463992OMIM181018060300382
HP:0001332HP:0012179Craniofacial dystonia2ARX CL E G H170302308350Epileptic encephalopathy, early infantile, 1308350C3463992OMIM181018060300382
HP:0001332HP:0002356Writer's cramp2ARX CL E G H170302308350Epileptic encephalopathy, early infantile, 1308350C3463992OMIM181018060300382
HP:0001332HP:0031960Arm dystonia2ARX CL E G H170302308350Epileptic encephalopathy, early infantile, 1308350C3463992OMIM181018060300382
HP:0001332HP:0031959Leg dystonia2ARX CL E G H170302308350Epileptic encephalopathy, early infantile, 1308350C3463992OMIM181018060300382
HP:0001332HP:0012049Laryngeal dystonia2ATM CL E G H472208900Ataxia-telangiectasia syndrome208900C0004135OMIM114692795607585
HP:0001332HP:0012179Craniofacial dystonia2ATM CL E G H472208900Ataxia-telangiectasia syndrome208900C0004135OMIM114692795607585
HP:0001332HP:0002356Writer's cramp2ATM CL E G H472208900Ataxia-telangiectasia syndrome208900C0004135OMIM114692795607585
HP:0001332HP:0031960Arm dystonia2ATM CL E G H472208900Ataxia-telangiectasia syndrome208900C0004135OMIM114692795607585
HP:0001332HP:0031959Leg dystonia2ATM CL E G H472208900Ataxia-telangiectasia syndrome208900C0004135OMIM114692795607585
HP:0001332HP:0012049Laryngeal dystonia2ATP13A2 CL E G H23400314632ORPHA197430213610513
HP:0001332HP:0012179Craniofacial dystonia2ATP13A2 CL E G H23400314632ORPHA197430213610513
HP:0001332HP:0002356Writer's cramp2ATP13A2 CL E G H23400314632ORPHA197430213610513
HP:0001332HP:0031960Arm dystonia2ATP13A2 CL E G H23400314632ORPHA197430213610513
HP:0001332HP:0031959Leg dystonia2ATP13A2 CL E G H23400314632ORPHA197430213610513
HP:0001332HP:0012049Laryngeal dystonia2ATP13A2 CL E G H23400513436ORPHA197430213610513
HP:0001332HP:0012179Craniofacial dystonia2ATP13A2 CL E G H23400513436ORPHA197430213610513
HP:0001332HP:0002356Writer's cramp2ATP13A2 CL E G H23400513436ORPHA197430213610513
HP:0001332HP:0031960Arm dystonia2ATP13A2 CL E G H23400513436ORPHA197430213610513
HP:0001332HP:0031959Leg dystonia2ATP13A2 CL E G H23400513436ORPHA197430213610513
HP:0001332HP:0012049Laryngeal dystonia2ATP1A2 CL E G H477104290Alternating hemiplegia of childhood 1104290C3549447OMIM11117800182340
HP:0001332HP:0012179Craniofacial dystonia2ATP1A2 CL E G H477104290Alternating hemiplegia of childhood 1104290C3549447OMIM11117800182340
HP:0001332HP:0002356Writer's cramp2ATP1A2 CL E G H477104290Alternating hemiplegia of childhood 1104290C3549447OMIM11117800182340
HP:0001332HP:0031960Arm dystonia2ATP1A2 CL E G H477104290Alternating hemiplegia of childhood 1104290C3549447OMIM11117800182340
HP:0001332HP:0031959Leg dystonia2ATP1A2 CL E G H477104290Alternating hemiplegia of childhood 1104290C3549447OMIM11117800182340
HP:0001332HP:0012049Laryngeal dystonia2ATP1A3 CL E G H478614820Alternating hemiplegia of childhood 2614820C3553788OMIM1993801182350
HP:0001332HP:0012179Craniofacial dystonia2ATP1A3 CL E G H478614820Alternating hemiplegia of childhood 2614820C3553788OMIM1993801182350
HP:0001332HP:0002356Writer's cramp2ATP1A3 CL E G H478614820Alternating hemiplegia of childhood 2614820C3553788OMIM1993801182350
HP:0001332HP:0031960Arm dystonia2ATP1A3 CL E G H478614820Alternating hemiplegia of childhood 2614820C3553788OMIM1993801182350
HP:0001332HP:0031959Leg dystonia2ATP1A3 CL E G H478614820Alternating hemiplegia of childhood 2614820C3553788OMIM1993801182350
HP:0001332HP:0012049Laryngeal dystonia2ATP1A3 CL E G H478601338Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss601338C1832466OMIM1993801182350
HP:0001332HP:0012179Craniofacial dystonia2ATP1A3 CL E G H478601338Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss601338C1832466OMIM1993801182350
HP:0001332HP:0002356Writer's cramp2ATP1A3 CL E G H478601338Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss601338C1832466OMIM1993801182350
HP:0001332HP:0031960Arm dystonia2ATP1A3 CL E G H478601338Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss601338C1832466OMIM1993801182350
HP:0001332HP:0031959Leg dystonia2ATP1A3 CL E G H478601338Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss601338C1832466OMIM1993801182350
HP:0001332HP:0012049Laryngeal dystonia2ATP7B CL E G H540277900Wilson disease277900C0019202OMIM12303870606882
HP:0001332HP:0012179Craniofacial dystonia2ATP7B CL E G H540277900Wilson disease277900C0019202OMIM12303870606882
HP:0001332HP:0002356Writer's cramp2ATP7B CL E G H540277900Wilson disease277900C0019202OMIM12303870606882
HP:0001332HP:0031960Arm dystonia2ATP7B CL E G H540277900Wilson disease277900C0019202OMIM12303870606882
HP:0001332HP:0031959Leg dystonia2ATP7B CL E G H540277900Wilson disease277900C0019202OMIM12303870606882
HP:0001332HP:0012049Laryngeal dystonia2ATXN1 CL E G H631098755ORPHA112010548601556
HP:0001332HP:0012179Craniofacial dystonia2ATXN1 CL E G H631098755ORPHA112010548601556
HP:0001332HP:0002356Writer's cramp2ATXN1 CL E G H631098755ORPHA112010548601556
HP:0001332HP:0031960Arm dystonia2ATXN1 CL E G H631098755ORPHA112010548601556
HP:0001332HP:0031959Leg dystonia2ATXN1 CL E G H631098755ORPHA112010548601556
HP:0001332HP:0012049Laryngeal dystonia2ATXN2 CL E G H631198756ORPHA111510555601517
HP:0001332HP:0012179Craniofacial dystonia2ATXN2 CL E G H631198756ORPHA111510555601517
HP:0001332HP:0002356Writer's cramp2ATXN2 CL E G H631198756ORPHA111510555601517
HP:0001332HP:0031960Arm dystonia2ATXN2 CL E G H631198756ORPHA111510555601517
HP:0001332HP:0031959Leg dystonia2ATXN2 CL E G H631198756ORPHA111510555601517
HP:0001332HP:0012049Laryngeal dystonia2ATXN3 CL E G H4287276238ORPHA1657106607047
HP:0001332HP:0012179Craniofacial dystonia2ATXN3 CL E G H4287276238ORPHA1657106607047
HP:0001332HP:0002356Writer's cramp2ATXN3 CL E G H4287276238ORPHA1657106607047
HP:0001332HP:0031960Arm dystonia2ATXN3 CL E G H4287276238ORPHA1657106607047
HP:0001332HP:0031959Leg dystonia2ATXN3 CL E G H4287276238ORPHA1657106607047
HP:0001332HP:0012049Laryngeal dystonia2ATXN3 CL E G H4287276241ORPHA1657106607047
HP:0001332HP:0012179Craniofacial dystonia2ATXN3 CL E G H4287276241ORPHA1657106607047
HP:0001332HP:0002356Writer's cramp2ATXN3 CL E G H4287276241ORPHA1657106607047
HP:0001332HP:0031960Arm dystonia2ATXN3 CL E G H4287276241ORPHA1657106607047
HP:0001332HP:0031959Leg dystonia2ATXN3 CL E G H4287276241ORPHA1657106607047
HP:0001332HP:0012049Laryngeal dystonia2ATXN3 CL E G H4287276244ORPHA1657106607047
HP:0001332HP:0012179Craniofacial dystonia2ATXN3 CL E G H4287276244ORPHA1657106607047
HP:0001332HP:0002356Writer's cramp2ATXN3 CL E G H4287276244ORPHA1657106607047
HP:0001332HP:0031960Arm dystonia2ATXN3 CL E G H4287276244ORPHA1657106607047
HP:0001332HP:0031959Leg dystonia2ATXN3 CL E G H4287276244ORPHA1657106607047
HP:0001332HP:0012049Laryngeal dystonia2ATXN8 CL E G H72406698760ORPHA1232925613289
HP:0001332HP:0012179Craniofacial dystonia2ATXN8 CL E G H72406698760ORPHA1232925613289
HP:0001332HP:0002356Writer's cramp2ATXN8 CL E G H72406698760ORPHA1232925613289
HP:0001332HP:0031960Arm dystonia2ATXN8 CL E G H72406698760ORPHA1232925613289
HP:0001332HP:0031959Leg dystonia2ATXN8 CL E G H72406698760ORPHA1232925613289
HP:0001332HP:0012049Laryngeal dystonia2ATXN8OS CL E G H631598760ORPHA18710561603680
HP:0001332HP:0012179Craniofacial dystonia2ATXN8OS CL E G H631598760ORPHA18710561603680
HP:0001332HP:0002356Writer's cramp2ATXN8OS CL E G H631598760ORPHA18710561603680
HP:0001332HP:0031960Arm dystonia2ATXN8OS CL E G H631598760ORPHA18710561603680
HP:0001332HP:0031959Leg dystonia2ATXN8OS CL E G H631598760ORPHA18710561603680
HP:0001332HP:0012049Laryngeal dystonia2AUH CL E G H5492509503-Methylglutaconic aciduria type 1250950C0342727OMIM1249890600529
HP:0001332HP:0012179Craniofacial dystonia2AUH CL E G H5492509503-Methylglutaconic aciduria type 1250950C0342727OMIM1249890600529
HP:0001332HP:0002356Writer's cramp2AUH CL E G H5492509503-Methylglutaconic aciduria type 1250950C0342727OMIM1249890600529
HP:0001332HP:0031960Arm dystonia2AUH CL E G H5492509503-Methylglutaconic aciduria type 1250950C0342727OMIM1249890600529
HP:0001332HP:0031959Leg dystonia2AUH CL E G H5492509503-Methylglutaconic aciduria type 1250950C0342727OMIM1249890600529
HP:0001332HP:0012049Laryngeal dystonia2B4GALNT1 CL E G H2583609195Spastic paraplegia 26609195C1836632OMIM12954117601873
HP:0001332HP:0012179Craniofacial dystonia2B4GALNT1 CL E G H2583609195Spastic paraplegia 26609195C1836632OMIM12954117601873
HP:0001332HP:0002356Writer's cramp2B4GALNT1 CL E G H2583609195Spastic paraplegia 26609195C1836632OMIM12954117601873
HP:0001332HP:0031960Arm dystonia2B4GALNT1 CL E G H2583609195Spastic paraplegia 26609195C1836632OMIM12954117601873
HP:0001332HP:0031959Leg dystonia2B4GALNT1 CL E G H2583609195Spastic paraplegia 26609195C1836632OMIM12954117601873
HP:0001332HP:0012049Laryngeal dystonia2BCAP31 CL E G H10134300475Chromosome Xq28 deletion syndrome300475C1845408OMIM137516695300398
HP:0001332HP:0012179Craniofacial dystonia2BCAP31 CL E G H10134300475Chromosome Xq28 deletion syndrome300475C1845408OMIM137516695300398
HP:0001332HP:0002356Writer's cramp2BCAP31 CL E G H10134300475Chromosome Xq28 deletion syndrome300475C1845408OMIM137516695300398
HP:0001332HP:0031960Arm dystonia2BCAP31 CL E G H10134300475Chromosome Xq28 deletion syndrome300475C1845408OMIM137516695300398
HP:0001332HP:0031959Leg dystonia2BCAP31 CL E G H10134300475Chromosome Xq28 deletion syndrome300475C1845408OMIM137516695300398
HP:0001332HP:0012049Laryngeal dystonia2BCS1L CL E G H617256000Leigh syndrome256000C0023264OMIM14131020603647
HP:0001332HP:0012179Craniofacial dystonia2BCS1L CL E G H617256000Leigh syndrome256000C0023264OMIM14131020603647
HP:0001332HP:0002356Writer's cramp2BCS1L CL E G H617256000Leigh syndrome256000C0023264OMIM14131020603647
HP:0001332HP:0031960Arm dystonia2BCS1L CL E G H617256000Leigh syndrome256000C0023264OMIM14131020603647
HP:0001332HP:0031959Leg dystonia2BCS1L CL E G H617256000Leigh syndrome256000C0023264OMIM14131020603647
HP:0001332HP:0012049Laryngeal dystonia2BSCL2 CL E G H26580615924Encephalopathy, progressive, with or without lipodystrophy615924C4014700OMIM151015832606158
HP:0001332HP:0012179Craniofacial dystonia2BSCL2 CL E G H26580615924Encephalopathy, progressive, with or without lipodystrophy615924C4014700OMIM151015832606158
HP:0001332HP:0002356Writer's cramp2BSCL2 CL E G H26580615924Encephalopathy, progressive, with or without lipodystrophy615924C4014700OMIM151015832606158
HP:0001332HP:0031960Arm dystonia2BSCL2 CL E G H26580615924Encephalopathy, progressive, with or without lipodystrophy615924C4014700OMIM151015832606158
HP:0001332HP:0031959Leg dystonia2BSCL2 CL E G H26580615924Encephalopathy, progressive, with or without lipodystrophy615924C4014700OMIM151015832606158
HP:0001332HP:0012049Laryngeal dystonia2C19orf12 CL E G H83636289560ORPHA130725443614297
HP:0001332HP:0012179Craniofacial dystonia2C19orf12 CL E G H83636289560ORPHA130725443614297
HP:0001332HP:0002356Writer's cramp2C19orf12 CL E G H83636289560ORPHA130725443614297
HP:0001332HP:0031960Arm dystonia2C19orf12 CL E G H83636289560ORPHA130725443614297
HP:0001332HP:0031959Leg dystonia2C19orf12 CL E G H83636289560ORPHA130725443614297
HP:0001332HP:0012049Laryngeal dystonia2CACNA1A CL E G H773108500Episodic ataxia type 2108500C1720416OMIM132481388601011
HP:0001332HP:0012179Craniofacial dystonia2CACNA1A CL E G H773108500Episodic ataxia type 2108500C1720416OMIM132481388601011
HP:0001332HP:0002356Writer's cramp2CACNA1A CL E G H773108500Episodic ataxia type 2108500C1720416OMIM132481388601011
HP:0001332HP:0031960Arm dystonia2CACNA1A CL E G H773108500Episodic ataxia type 2108500C1720416OMIM132481388601011
HP:0001332HP:0031959Leg dystonia2CACNA1A CL E G H773108500Episodic ataxia type 2108500C1720416OMIM132481388601011
HP:0001332HP:0012049Laryngeal dystonia2CACNA1E CL E G H777618285618285618285OMIM115831392601013
HP:0001332HP:0012179Craniofacial dystonia2CACNA1E CL E G H777618285618285618285OMIM115831392601013
HP:0001332HP:0002356Writer's cramp2CACNA1E CL E G H777618285618285618285OMIM115831392601013
HP:0001332HP:0031960Arm dystonia2CACNA1E CL E G H777618285618285618285OMIM115831392601013
HP:0001332HP:0031959Leg dystonia2CACNA1E CL E G H777618285618285618285OMIM115831392601013
HP:0001332HP:0012049Laryngeal dystonia2CACNA1G CL E G H8913618087SPINOCEREBELLAR ATAXIA 42, EARLY-ONSET, SEVERE, WITH NEURODEVELOPMENTAL DEFICITS618087CN252698OMIM18221394604065
HP:0001332HP:0012179Craniofacial dystonia2CACNA1G CL E G H8913618087SPINOCEREBELLAR ATAXIA 42, EARLY-ONSET, SEVERE, WITH NEURODEVELOPMENTAL DEFICITS618087CN252698OMIM18221394604065
HP:0001332HP:0002356Writer's cramp2CACNA1G CL E G H8913618087SPINOCEREBELLAR ATAXIA 42, EARLY-ONSET, SEVERE, WITH NEURODEVELOPMENTAL DEFICITS618087CN252698OMIM18221394604065
HP:0001332HP:0031960Arm dystonia2CACNA1G CL E G H8913618087SPINOCEREBELLAR ATAXIA 42, EARLY-ONSET, SEVERE, WITH NEURODEVELOPMENTAL DEFICITS618087CN252698OMIM18221394604065
HP:0001332HP:0031959Leg dystonia2CACNA1G CL E G H8913618087SPINOCEREBELLAR ATAXIA 42, EARLY-ONSET, SEVERE, WITH NEURODEVELOPMENTAL DEFICITS618087CN252698OMIM18221394604065
HP:0001332HP:0012049Laryngeal dystonia2CARS2 CL E G H79587616672Combined oxidative phosphorylation deficiency 27616672C4225251OMIM182525695612800
HP:0001332HP:0012179Craniofacial dystonia2CARS2 CL E G H79587616672Combined oxidative phosphorylation deficiency 27616672C4225251OMIM182525695612800
HP:0001332HP:0002356Writer's cramp2CARS2 CL E G H79587616672Combined oxidative phosphorylation deficiency 27616672C4225251OMIM182525695612800
HP:0001332HP:0031960Arm dystonia2CARS2 CL E G H79587616672Combined oxidative phosphorylation deficiency 27616672C4225251OMIM182525695612800
HP:0001332HP:0031959Leg dystonia2CARS2 CL E G H79587616672Combined oxidative phosphorylation deficiency 27616672C4225251OMIM182525695612800
HP:0001332HP:0012049Laryngeal dystonia2CHMP2B CL E G H25978600795Frontotemporal Dementia, Chromosome 3-Linked600795C1833296OMIM116024537609512
HP:0001332HP:0012179Craniofacial dystonia2CHMP2B CL E G H25978600795Frontotemporal Dementia, Chromosome 3-Linked600795C1833296OMIM116024537609512
HP:0001332HP:0002356Writer's cramp2CHMP2B CL E G H25978600795Frontotemporal Dementia, Chromosome 3-Linked600795C1833296OMIM116024537609512
HP:0001332HP:0031960Arm dystonia2CHMP2B CL E G H25978600795Frontotemporal Dementia, Chromosome 3-Linked600795C1833296OMIM116024537609512
HP:0001332HP:0031959Leg dystonia2CHMP2B CL E G H25978600795Frontotemporal Dementia, Chromosome 3-Linked600795C1833296OMIM116024537609512
HP:0001332HP:0012049Laryngeal dystonia2CHRNA2 CL E G H1135610353Epilepsy, nocturnal frontal lobe, type 4610353C1835905OMIM17321956118502
HP:0001332HP:0012179Craniofacial dystonia2CHRNA2 CL E G H1135610353Epilepsy, nocturnal frontal lobe, type 4610353C1835905OMIM17321956118502
HP:0001332HP:0002356Writer's cramp2CHRNA2 CL E G H1135610353Epilepsy, nocturnal frontal lobe, type 4610353C1835905OMIM17321956118502
HP:0001332HP:0031960Arm dystonia2CHRNA2 CL E G H1135610353Epilepsy, nocturnal frontal lobe, type 4610353C1835905OMIM17321956118502
HP:0001332HP:0031959Leg dystonia2CHRNA2 CL E G H1135610353Epilepsy, nocturnal frontal lobe, type 4610353C1835905OMIM17321956118502
HP:0001332HP:0012049Laryngeal dystonia2CKAP2L CL E G H150468272440Filippi syndrome272440C0795940OMIM116826877616174
HP:0001332HP:0012179Craniofacial dystonia2CKAP2L CL E G H150468272440Filippi syndrome272440C0795940OMIM116826877616174
HP:0001332HP:0002356Writer's cramp2CKAP2L CL E G H150468272440Filippi syndrome272440C0795940OMIM116826877616174
HP:0001332HP:0031960Arm dystonia2CKAP2L CL E G H150468272440Filippi syndrome272440C0795940OMIM116826877616174
HP:0001332HP:0031959Leg dystonia2CKAP2L CL E G H150468272440Filippi syndrome272440C0795940OMIM116826877616174
HP:0001332HP:0012049Laryngeal dystonia2CNTNAP1 CL E G H8506618186Congenital hypomyelinating neuropathy 3618186OMIM14258011602346
HP:0001332HP:0012179Craniofacial dystonia2CNTNAP1 CL E G H8506618186Congenital hypomyelinating neuropathy 3618186OMIM14258011602346
HP:0001332HP:0002356Writer's cramp2CNTNAP1 CL E G H8506618186Congenital hypomyelinating neuropathy 3618186OMIM14258011602346
HP:0001332HP:0031960Arm dystonia2CNTNAP1 CL E G H8506618186Congenital hypomyelinating neuropathy 3618186OMIM14258011602346
HP:0001332HP:0031959Leg dystonia2CNTNAP1 CL E G H8506618186Congenital hypomyelinating neuropathy 3618186OMIM14258011602346
HP:0001332HP:0012049Laryngeal dystonia2COQ9 CL E G H57017614654Coenzyme Q10 deficiency, primary, 5614654C3553374OMIM127625302612837
HP:0001332HP:0012179Craniofacial dystonia2COQ9 CL E G H57017614654Coenzyme Q10 deficiency, primary, 5614654C3553374OMIM127625302612837
HP:0001332HP:0002356Writer's cramp2COQ9 CL E G H57017614654Coenzyme Q10 deficiency, primary, 5614654C3553374OMIM127625302612837
HP:0001332HP:0031960Arm dystonia2COQ9 CL E G H57017614654Coenzyme Q10 deficiency, primary, 5614654C3553374OMIM127625302612837
HP:0001332HP:0031959Leg dystonia2COQ9 CL E G H57017614654Coenzyme Q10 deficiency, primary, 5614654C3553374OMIM127625302612837
HP:0001332HP:0012049Laryngeal dystonia2COX10 CL E G H1352256000Leigh syndrome256000C0023264OMIM13562260602125
HP:0001332HP:0012179Craniofacial dystonia2COX10 CL E G H1352256000Leigh syndrome256000C0023264OMIM13562260602125
HP:0001332HP:0002356Writer's cramp2COX10 CL E G H1352256000Leigh syndrome256000C0023264OMIM13562260602125
HP:0001332HP:0031960Arm dystonia2COX10 CL E G H1352256000Leigh syndrome256000C0023264OMIM13562260602125
HP:0001332HP:0031959Leg dystonia2COX10 CL E G H1352256000Leigh syndrome256000C0023264OMIM13562260602125
HP:0001332HP:0012049Laryngeal dystonia2COX15 CL E G H1355255241ORPHA13572263603646
HP:0001332HP:0012179Craniofacial dystonia2COX15 CL E G H1355255241ORPHA13572263603646
HP:0001332HP:0002356Writer's cramp2COX15 CL E G H1355255241ORPHA13572263603646
HP:0001332HP:0031960Arm dystonia2COX15 CL E G H1355255241ORPHA13572263603646
HP:0001332HP:0031959Leg dystonia2COX15 CL E G H1355255241ORPHA13572263603646
HP:0001332HP:0012049Laryngeal dystonia2COX15 CL E G H1355256000Leigh syndrome256000C0023264OMIM13572263603646
HP:0001332HP:0012179Craniofacial dystonia2COX15 CL E G H1355256000Leigh syndrome256000C0023264OMIM13572263603646
HP:0001332HP:0002356Writer's cramp2COX15 CL E G H1355256000Leigh syndrome256000C0023264OMIM13572263603646
HP:0001332HP:0031960Arm dystonia2COX15 CL E G H1355256000Leigh syndrome256000C0023264OMIM13572263603646
HP:0001332HP:0031959Leg dystonia2COX15 CL E G H1355256000Leigh syndrome256000C0023264OMIM13572263603646
HP:0001332HP:0012049Laryngeal dystonia2CTC1 CL E G H80169612199Cerebroretinal microangiopathy with calcifications and cysts 1612199C2677299OMIM1129226169613129
HP:0001332HP:0012179Craniofacial dystonia2CTC1 CL E G H80169612199Cerebroretinal microangiopathy with calcifications and cysts 1612199C2677299OMIM1129226169613129
HP:0001332HP:0002356Writer's cramp2CTC1 CL E G H80169612199Cerebroretinal microangiopathy with calcifications and cysts 1612199C2677299OMIM1129226169613129
HP:0001332HP:0031960Arm dystonia2CTC1 CL E G H80169612199Cerebroretinal microangiopathy with calcifications and cysts 1612199C2677299OMIM1129226169613129
HP:0001332HP:0031959Leg dystonia2CTC1 CL E G H80169612199Cerebroretinal microangiopathy with calcifications and cysts 1612199C2677299OMIM1129226169613129
HP:0001332HP:0012049Laryngeal dystonia2CWF19L1 CL E G H55280453521ORPHA110025613616120
HP:0001332HP:0012179Craniofacial dystonia2CWF19L1 CL E G H55280453521ORPHA110025613616120
HP:0001332HP:0002356Writer's cramp2CWF19L1 CL E G H55280453521ORPHA110025613616120
HP:0001332HP:0031960Arm dystonia2CWF19L1 CL E G H55280453521ORPHA110025613616120
HP:0001332HP:0031959Leg dystonia2CWF19L1 CL E G H55280453521ORPHA110025613616120
HP:0001332HP:0012049Laryngeal dystonia2CYP27A1 CL E G H1593909ORPHA19402605606530
HP:0001332HP:0012179Craniofacial dystonia2CYP27A1 CL E G H1593909ORPHA19402605606530
HP:0001332HP:0002356Writer's cramp2CYP27A1 CL E G H1593909ORPHA19402605606530
HP:0001332HP:0031960Arm dystonia2CYP27A1 CL E G H1593909ORPHA19402605606530
HP:0001332HP:0031959Leg dystonia2CYP27A1 CL E G H1593909ORPHA19402605606530
HP:0001332HP:0012049Laryngeal dystonia2DCAF17 CL E G H800673464ORPHA136625784612515
HP:0001332HP:0012179Craniofacial dystonia2DCAF17 CL E G H800673464ORPHA136625784612515
HP:0001332HP:0002356Writer's cramp2DCAF17 CL E G H800673464ORPHA136625784612515
HP:0001332HP:0031960Arm dystonia2DCAF17 CL E G H800673464ORPHA136625784612515
HP:0001332HP:0031959Leg dystonia2DCAF17 CL E G H800673464ORPHA136625784612515
HP:0001332HP:0012049Laryngeal dystonia2DCAF17 CL E G H80067241080Hypogonadism, diabetes mellitus, alopecia, mental retardation and electrocardiographic abnormalities241080C0342286OMIM136625784612515
HP:0001332HP:0012179Craniofacial dystonia2DCAF17 CL E G H80067241080Hypogonadism, diabetes mellitus, alopecia, mental retardation and electrocardiographic abnormalities241080C0342286OMIM136625784612515
HP:0001332HP:0002356Writer's cramp2DCAF17 CL E G H80067241080Hypogonadism, diabetes mellitus, alopecia, mental retardation and electrocardiographic abnormalities241080C0342286OMIM136625784612515
HP:0001332HP:0031960Arm dystonia2DCAF17 CL E G H80067241080Hypogonadism, diabetes mellitus, alopecia, mental retardation and electrocardiographic abnormalities241080C0342286OMIM136625784612515
HP:0001332HP:0031959Leg dystonia2DCAF17 CL E G H80067241080Hypogonadism, diabetes mellitus, alopecia, mental retardation and electrocardiographic abnormalities241080C0342286OMIM136625784612515
HP:0001332HP:0012049Laryngeal dystonia2DHDDS CL E G H79947617836DEVELOPMENTAL DELAY AND SEIZURES WITH OR WITHOUT MOVEMENT ABNORMALITIES617836CN769090OMIM143420603608172
HP:0001332HP:0012179Craniofacial dystonia2DHDDS CL E G H79947617836DEVELOPMENTAL DELAY AND SEIZURES WITH OR WITHOUT MOVEMENT ABNORMALITIES617836CN769090OMIM143420603608172
HP:0001332HP:0002356Writer's cramp2DHDDS CL E G H79947617836DEVELOPMENTAL DELAY AND SEIZURES WITH OR WITHOUT MOVEMENT ABNORMALITIES617836CN769090OMIM143420603608172
HP:0001332HP:0031960Arm dystonia2DHDDS CL E G H79947617836DEVELOPMENTAL DELAY AND SEIZURES WITH OR WITHOUT MOVEMENT ABNORMALITIES617836CN769090OMIM143420603608172
HP:0001332HP:0031959Leg dystonia2DHDDS CL E G H79947617836DEVELOPMENTAL DELAY AND SEIZURES WITH OR WITHOUT MOVEMENT ABNORMALITIES617836CN769090OMIM143420603608172
HP:0001332HP:0012049Laryngeal dystonia2DHX30 CL E G H22907617804NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT AND ABSENT LANGUAGE617804C4540496OMIM116216716616423
HP:0001332HP:0012179Craniofacial dystonia2DHX30 CL E G H22907617804NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT AND ABSENT LANGUAGE617804C4540496OMIM116216716616423
HP:0001332HP:0002356Writer's cramp2DHX30 CL E G H22907617804NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT AND ABSENT LANGUAGE617804C4540496OMIM116216716616423
HP:0001332HP:0031960Arm dystonia2DHX30 CL E G H22907617804NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT AND ABSENT LANGUAGE617804C4540496OMIM116216716616423
HP:0001332HP:0031959Leg dystonia2DHX30 CL E G H22907617804NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT AND ABSENT LANGUAGE617804C4540496OMIM116216716616423
HP:0001332HP:0012049Laryngeal dystonia2DLD CL E G H1738246900Maple syrup urine disease, type 3246900CN043137OMIM15202898238331
HP:0001332HP:0012179Craniofacial dystonia2DLD CL E G H1738246900Maple syrup urine disease, type 3246900CN043137OMIM15202898238331
HP:0001332HP:0002356Writer's cramp2DLD CL E G H1738246900Maple syrup urine disease, type 3246900CN043137OMIM15202898238331
HP:0001332HP:0031960Arm dystonia2DLD CL E G H1738246900Maple syrup urine disease, type 3246900CN043137OMIM15202898238331
HP:0001332HP:0031959Leg dystonia2DLD CL E G H1738246900Maple syrup urine disease, type 3246900CN043137OMIM15202898238331
HP:0001332HP:0012049Laryngeal dystonia2DMXL2 CL E G H23312616113Polyendocrine-polyneuropathy syndrome616113C4015261OMIM112162938612186
HP:0001332HP:0012179Craniofacial dystonia2DMXL2 CL E G H23312616113Polyendocrine-polyneuropathy syndrome616113C4015261OMIM112162938612186
HP:0001332HP:0002356Writer's cramp2DMXL2 CL E G H23312616113Polyendocrine-polyneuropathy syndrome616113C4015261OMIM112162938612186
HP:0001332HP:0031960Arm dystonia2DMXL2 CL E G H23312616113Polyendocrine-polyneuropathy syndrome616113C4015261OMIM112162938612186
HP:0001332HP:0031959Leg dystonia2DMXL2 CL E G H23312616113Polyendocrine-polyneuropathy syndrome616113C4015261OMIM112162938612186
HP:0001332HP:0012049Laryngeal dystonia2DNAJC6 CL E G H9829391411ORPHA131015469608375
HP:0001332HP:0012179Craniofacial dystonia2DNAJC6 CL E G H9829391411ORPHA131015469608375
HP:0001332HP:0002356Writer's cramp2DNAJC6 CL E G H9829391411ORPHA131015469608375
HP:0001332HP:0031960Arm dystonia2DNAJC6 CL E G H9829391411ORPHA131015469608375
HP:0001332HP:0031959Leg dystonia2DNAJC6 CL E G H9829391411ORPHA131015469608375
HP:0001332HP:0012049Laryngeal dystonia2EARS2 CL E G H124454614924Combined oxidative phosphorylation deficiency 12614924C3554079OMIM133629419612799
HP:0001332HP:0012179Craniofacial dystonia2EARS2 CL E G H124454614924Combined oxidative phosphorylation deficiency 12614924C3554079OMIM133629419612799
HP:0001332HP:0002356Writer's cramp2EARS2 CL E G H124454614924Combined oxidative phosphorylation deficiency 12614924C3554079OMIM133629419612799
HP:0001332HP:0031960Arm dystonia2EARS2 CL E G H124454614924Combined oxidative phosphorylation deficiency 12614924C3554079OMIM133629419612799
HP:0001332HP:0031959Leg dystonia2EARS2 CL E G H124454614924Combined oxidative phosphorylation deficiency 12614924C3554079OMIM133629419612799
HP:0001332HP:0012049Laryngeal dystonia2ECHS1 CL E G H1892255241ORPHA14313151602292
HP:0001332HP:0012179Craniofacial dystonia2ECHS1 CL E G H1892255241ORPHA14313151602292
HP:0001332HP:0002356Writer's cramp2ECHS1 CL E G H1892255241ORPHA14313151602292
HP:0001332HP:0031960Arm dystonia2ECHS1 CL E G H1892255241ORPHA14313151602292
HP:0001332HP:0031959Leg dystonia2ECHS1 CL E G H1892255241ORPHA14313151602292
HP:0001332HP:0012049Laryngeal dystonia2ECHS1 CL E G H1892616277Mitochondrial short-chain enoyl-coa hydratase 1 deficiency616277C4225391OMIM14313151602292
HP:0001332HP:0012179Craniofacial dystonia2ECHS1 CL E G H1892616277Mitochondrial short-chain enoyl-coa hydratase 1 deficiency616277C4225391OMIM14313151602292
HP:0001332HP:0002356Writer's cramp2ECHS1 CL E G H1892616277Mitochondrial short-chain enoyl-coa hydratase 1 deficiency616277C4225391OMIM14313151602292
HP:0001332HP:0031960Arm dystonia2ECHS1 CL E G H1892616277Mitochondrial short-chain enoyl-coa hydratase 1 deficiency616277C4225391OMIM14313151602292
HP:0001332HP:0031959Leg dystonia2ECHS1 CL E G H1892616277Mitochondrial short-chain enoyl-coa hydratase 1 deficiency616277C4225391OMIM14313151602292
HP:0001332HP:0012049Laryngeal dystonia2ECM1 CL E G H1893530Acute myeloblastic leukemia type 5ORPHA11063153602201
HP:0001332HP:0012179Craniofacial dystonia2ECM1 CL E G H1893530Acute myeloblastic leukemia type 5ORPHA11063153602201
HP:0001332HP:0002356Writer's cramp2ECM1 CL E G H1893530Acute myeloblastic leukemia type 5ORPHA11063153602201
HP:0001332HP:0031960Arm dystonia2ECM1 CL E G H1893530Acute myeloblastic leukemia type 5ORPHA11063153602201
HP:0001332HP:0031959Leg dystonia2ECM1 CL E G H1893530Acute myeloblastic leukemia type 5ORPHA11063153602201
HP:0001332HP:0012049Laryngeal dystonia2EPRS CL E G H2058617951LEUKODYSTROPHY, HYPOMYELINATING, 15617951CN244566OMIM13418138295
HP:0001332HP:0012179Craniofacial dystonia2EPRS CL E G H2058617951LEUKODYSTROPHY, HYPOMYELINATING, 15617951CN244566OMIM13418138295
HP:0001332HP:0002356Writer's cramp2EPRS CL E G H2058617951LEUKODYSTROPHY, HYPOMYELINATING, 15617951CN244566OMIM13418138295
HP:0001332HP:0031960Arm dystonia2EPRS CL E G H2058617951LEUKODYSTROPHY, HYPOMYELINATING, 15617951CN244566OMIM13418138295
HP:0001332HP:0031959Leg dystonia2EPRS CL E G H2058617951LEUKODYSTROPHY, HYPOMYELINATING, 15617951CN244566OMIM13418138295
HP:0001332HP:0012049Laryngeal dystonia2FA2H CL E G H79152612319Spastic paraplegia 35612319C3668943OMIM138121197611026
HP:0001332HP:0012179Craniofacial dystonia2FA2H CL E G H79152612319Spastic paraplegia 35612319C3668943OMIM138121197611026
HP:0001332HP:0002356Writer's cramp2FA2H CL E G H79152612319Spastic paraplegia 35612319C3668943OMIM138121197611026
HP:0001332HP:0031960Arm dystonia2FA2H CL E G H79152612319Spastic paraplegia 35612319C3668943OMIM138121197611026
HP:0001332HP:0031959Leg dystonia2FA2H CL E G H79152612319Spastic paraplegia 35612319C3668943OMIM138121197611026
HP:0001332HP:0012049Laryngeal dystonia2FBXO7 CL E G H25793171695ORPHA124313586605648
HP:0001332HP:0012179Craniofacial dystonia2FBXO7 CL E G H25793171695ORPHA124313586605648
HP:0001332HP:0002356Writer's cramp2FBXO7 CL E G H25793171695ORPHA124313586605648
HP:0001332HP:0031960Arm dystonia2FBXO7 CL E G H25793171695ORPHA124313586605648
HP:0001332HP:0031959Leg dystonia2FBXO7 CL E G H25793171695ORPHA124313586605648
HP:0001332HP:0012049Laryngeal dystonia2FBXO7 CL E G H25793260300Parkinson disease 15260300C1850100OMIM124313586605648
HP:0001332HP:0012179Craniofacial dystonia2FBXO7 CL E G H25793260300Parkinson disease 15260300C1850100OMIM124313586605648
HP:0001332HP:0002356Writer's cramp2FBXO7 CL E G H25793260300Parkinson disease 15260300C1850100OMIM124313586605648
HP:0001332HP:0031960Arm dystonia2FBXO7 CL E G H25793260300Parkinson disease 15260300C1850100OMIM124313586605648
HP:0001332HP:0031959Leg dystonia2FBXO7 CL E G H25793260300Parkinson disease 15260300C1850100OMIM124313586605648
HP:0001332HP:0012049Laryngeal dystonia2FOXG1 CL E G H2290613454Rett syndrome, congenital variant613454C3150705OMIM17253811164874
HP:0001332HP:0012179Craniofacial dystonia2FOXG1 CL E G H2290613454Rett syndrome, congenital variant613454C3150705OMIM17253811164874
HP:0001332HP:0002356Writer's cramp2FOXG1 CL E G H2290613454Rett syndrome, congenital variant613454C3150705OMIM17253811164874
HP:0001332HP:0031960Arm dystonia2FOXG1 CL E G H2290613454Rett syndrome, congenital variant613454C3150705OMIM17253811164874
HP:0001332HP:0031959Leg dystonia2FOXG1 CL E G H2290613454Rett syndrome, congenital variant613454C3150705OMIM17253811164874
HP:0001332HP:0012049Laryngeal dystonia2FOXRED1 CL E G H55572255241ORPHA132326927613622
HP:0001332HP:0012179Craniofacial dystonia2FOXRED1 CL E G H55572255241ORPHA132326927613622
HP:0001332HP:0002356Writer's cramp2FOXRED1 CL E G H55572255241ORPHA132326927613622
HP:0001332HP:0031960Arm dystonia2FOXRED1 CL E G H55572255241ORPHA132326927613622
HP:0001332HP:0031959Leg dystonia2FOXRED1 CL E G H55572255241ORPHA132326927613622
HP:0001332HP:0012049Laryngeal dystonia2FTL CL E G H2512157846ORPHA11853999134790
HP:0001332HP:0012179Craniofacial dystonia2FTL CL E G H2512157846ORPHA11853999134790
HP:0001332HP:0002356Writer's cramp2FTL CL E G H2512157846ORPHA11853999134790
HP:0001332HP:0031960Arm dystonia2FTL CL E G H2512157846ORPHA11853999134790
HP:0001332HP:0031959Leg dystonia2FTL CL E G H2512157846ORPHA11853999134790
HP:0001332HP:0012049Laryngeal dystonia2GABBR2 CL E G H9568617903NEURODEVELOPMENTAL DISORDER WITH POOR LANGUAGE AND LOSS OF HAND SKILLS617903CN870852OMIM18484507607340
HP:0001332HP:0012179Craniofacial dystonia2GABBR2 CL E G H9568617903NEURODEVELOPMENTAL DISORDER WITH POOR LANGUAGE AND LOSS OF HAND SKILLS617903CN870852OMIM18484507607340
HP:0001332HP:0002356Writer's cramp2GABBR2 CL E G H9568617903NEURODEVELOPMENTAL DISORDER WITH POOR LANGUAGE AND LOSS OF HAND SKILLS617903CN870852OMIM18484507607340
HP:0001332HP:0031960Arm dystonia2GABBR2 CL E G H9568617903NEURODEVELOPMENTAL DISORDER WITH POOR LANGUAGE AND LOSS OF HAND SKILLS617903CN870852OMIM18484507607340
HP:0001332HP:0031959Leg dystonia2GABBR2 CL E G H9568617903NEURODEVELOPMENTAL DISORDER WITH POOR LANGUAGE AND LOSS OF HAND SKILLS617903CN870852OMIM18484507607340
HP:0001332HP:0012049Laryngeal dystonia2GABRB2 CL E G H2561617829EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 2617829CN757794OMIM14944082600232
HP:0001332HP:0012179Craniofacial dystonia2GABRB2 CL E G H2561617829EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 2617829CN757794OMIM14944082600232
HP:0001332HP:0002356Writer's cramp2GABRB2 CL E G H2561617829EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 2617829CN757794OMIM14944082600232
HP:0001332HP:0031960Arm dystonia2GABRB2 CL E G H2561617829EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 2617829CN757794OMIM14944082600232
HP:0001332HP:0031959Leg dystonia2GABRB2 CL E G H2561617829EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 2617829CN757794OMIM14944082600232
HP:0001332HP:0012049Laryngeal dystonia2GBA CL E G H262977260ORPHA14177606463
HP:0001332HP:0012179Craniofacial dystonia2GBA CL E G H262977260ORPHA14177606463
HP:0001332HP:0002356Writer's cramp2GBA CL E G H262977260ORPHA14177606463
HP:0001332HP:0031960Arm dystonia2GBA CL E G H262977260ORPHA14177606463
HP:0001332HP:0031959Leg dystonia2GBA CL E G H262977260ORPHA14177606463
HP:0001332HP:0012049Laryngeal dystonia2GCDH CL E G H263925ORPHA17204189608801
HP:0001332HP:0012179Craniofacial dystonia2GCDH CL E G H263925ORPHA17204189608801
HP:0001332HP:0002356Writer's cramp2GCDH CL E G H263925ORPHA17204189608801
HP:0001332HP:0031960Arm dystonia2GCDH CL E G H263925ORPHA17204189608801
HP:0001332HP:0031959Leg dystonia2GCDH CL E G H263925ORPHA17204189608801
HP:0001332HP:0012049Laryngeal dystonia2GCDH CL E G H2639231670Glutaric aciduria, type 1231670C0268595OMIM17204189608801
HP:0001332HP:0012179Craniofacial dystonia2GCDH CL E G H2639231670Glutaric aciduria, type 1231670C0268595OMIM17204189608801
HP:0001332HP:0002356Writer's cramp2GCDH CL E G H2639231670Glutaric aciduria, type 1231670C0268595OMIM17204189608801
HP:0001332HP:0031960Arm dystonia2GCDH CL E G H2639231670Glutaric aciduria, type 1231670C0268595OMIM17204189608801
HP:0001332HP:0031959Leg dystonia2GCDH CL E G H2639231670Glutaric aciduria, type 1231670C0268595OMIM17204189608801
HP:0001332HP:0012049Laryngeal dystonia2GCH1 CL E G H2643233910GTP cyclohydrolase I deficiency233910C0268467OMIM14284193600225
HP:0001332HP:0012179Craniofacial dystonia2GCH1 CL E G H2643233910GTP cyclohydrolase I deficiency233910C0268467OMIM14284193600225
HP:0001332HP:0002356Writer's cramp2GCH1 CL E G H2643233910GTP cyclohydrolase I deficiency233910C0268467OMIM14284193600225
HP:0001332HP:0031960Arm dystonia2GCH1 CL E G H2643233910GTP cyclohydrolase I deficiency233910C0268467OMIM14284193600225
HP:0001332HP:0031959Leg dystonia2GCH1 CL E G H2643233910GTP cyclohydrolase I deficiency233910C0268467OMIM14284193600225
HP:0001332HP:0012049Laryngeal dystonia2GJC2 CL E G H57165608804Leukodystrophy, hypomyelinating, 2608804C1837355OMIM132317494608803
HP:0001332HP:0012179Craniofacial dystonia2GJC2 CL E G H57165608804Leukodystrophy, hypomyelinating, 2608804C1837355OMIM132317494608803
HP:0001332HP:0002356Writer's cramp2GJC2 CL E G H57165608804Leukodystrophy, hypomyelinating, 2608804C1837355OMIM132317494608803
HP:0001332HP:0031960Arm dystonia2GJC2 CL E G H57165608804Leukodystrophy, hypomyelinating, 2608804C1837355OMIM132317494608803
HP:0001332HP:0031959Leg dystonia2GJC2 CL E G H57165608804Leukodystrophy, hypomyelinating, 2608804C1837355OMIM132317494608803
HP:0001332HP:0012049Laryngeal dystonia2GLB1 CL E G H2720230650Gangliosidosis GM1 type 3230650C0268273OMIM19374298611458
HP:0001332HP:0012179Craniofacial dystonia2GLB1 CL E G H2720230650Gangliosidosis GM1 type 3230650C0268273OMIM19374298611458
HP:0001332HP:0002356Writer's cramp2GLB1 CL E G H2720230650Gangliosidosis GM1 type 3230650C0268273OMIM19374298611458
HP:0001332HP:0031960Arm dystonia2GLB1 CL E G H2720230650Gangliosidosis GM1 type 3230650C0268273OMIM19374298611458
HP:0001332HP:0031959Leg dystonia2GLB1 CL E G H2720230650Gangliosidosis GM1 type 3230650C0268273OMIM19374298611458
HP:0001332HP:0012049Laryngeal dystonia2GM2A CL E G H2760309246ORPHA12124367613109
HP:0001332HP:0012179Craniofacial dystonia2GM2A CL E G H2760309246ORPHA12124367613109
HP:0001332HP:0002356Writer's cramp2GM2A CL E G H2760309246ORPHA12124367613109
HP:0001332HP:0031960Arm dystonia2GM2A CL E G H2760309246ORPHA12124367613109
HP:0001332HP:0031959Leg dystonia2GM2A CL E G H2760309246ORPHA12124367613109
HP:0001332HP:0012049Laryngeal dystonia2GM2A CL E G H2760272750Tay-Sachs disease, variant AB272750C0268275OMIM12124367613109
HP:0001332HP:0012179Craniofacial dystonia2GM2A CL E G H2760272750Tay-Sachs disease, variant AB272750C0268275OMIM12124367613109
HP:0001332HP:0002356Writer's cramp2GM2A CL E G H2760272750Tay-Sachs disease, variant AB272750C0268275OMIM12124367613109
HP:0001332HP:0031960Arm dystonia2GM2A CL E G H2760272750Tay-Sachs disease, variant AB272750C0268275OMIM12124367613109
HP:0001332HP:0031959Leg dystonia2GM2A CL E G H2760272750Tay-Sachs disease, variant AB272750C0268275OMIM12124367613109
HP:0001332HP:0012049Laryngeal dystonia2GNAO1 CL E G H2775617493Neurodevelopmental disorder with involuntary movements617493C4479569OMIM14294389139311
HP:0001332HP:0012179Craniofacial dystonia2GNAO1 CL E G H2775617493Neurodevelopmental disorder with involuntary movements617493C4479569OMIM14294389139311
HP:0001332HP:0002356Writer's cramp2GNAO1 CL E G H2775617493Neurodevelopmental disorder with involuntary movements617493C4479569OMIM14294389139311
HP:0001332HP:0031960Arm dystonia2GNAO1 CL E G H2775617493Neurodevelopmental disorder with involuntary movements617493C4479569OMIM14294389139311
HP:0001332HP:0031959Leg dystonia2GNAO1 CL E G H2775617493Neurodevelopmental disorder with involuntary movements617493C4479569OMIM14294389139311
HP:0001332HP:0012049Laryngeal dystonia2GRIN1 CL E G H2902617820NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE617820CN737161OMIM19294584138249
HP:0001332HP:0012179Craniofacial dystonia2GRIN1 CL E G H2902617820NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE617820CN737161OMIM19294584138249
HP:0001332HP:0002356Writer's cramp2GRIN1 CL E G H2902617820NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE617820CN737161OMIM19294584138249
HP:0001332HP:0031960Arm dystonia2GRIN1 CL E G H2902617820NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE617820CN737161OMIM19294584138249
HP:0001332HP:0031959Leg dystonia2GRIN1 CL E G H2902617820NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE617820CN737161OMIM19294584138249
HP:0001332HP:0012049Laryngeal dystonia2GRIN2B CL E G H2904616139Epileptic encephalopathy, early infantile, 27616139C4015316OMIM113534586138252
HP:0001332HP:0012179Craniofacial dystonia2GRIN2B CL E G H2904616139Epileptic encephalopathy, early infantile, 27616139C4015316OMIM113534586138252
HP:0001332HP:0002356Writer's cramp2GRIN2B CL E G H2904616139Epileptic encephalopathy, early infantile, 27616139C4015316OMIM113534586138252
HP:0001332HP:0031960Arm dystonia2GRIN2B CL E G H2904616139Epileptic encephalopathy, early infantile, 27616139C4015316OMIM113534586138252
HP:0001332HP:0031959Leg dystonia2GRIN2B CL E G H2904616139Epileptic encephalopathy, early infantile, 27616139C4015316OMIM113534586138252
HP:0001332HP:0012049Laryngeal dystonia2GRIN2B CL E G H2904613970Mental retardation, autosomal dominant 6613970C3151411OMIM113534586138252
HP:0001332HP:0012179Craniofacial dystonia2GRIN2B CL E G H2904613970Mental retardation, autosomal dominant 6613970C3151411OMIM113534586138252
HP:0001332HP:0002356Writer's cramp2GRIN2B CL E G H2904613970Mental retardation, autosomal dominant 6613970C3151411OMIM113534586138252
HP:0001332HP:0031960Arm dystonia2GRIN2B CL E G H2904613970Mental retardation, autosomal dominant 6613970C3151411OMIM113534586138252
HP:0001332HP:0031959Leg dystonia2GRIN2B CL E G H2904613970Mental retardation, autosomal dominant 6613970C3151411OMIM113534586138252
HP:0001332HP:0012049Laryngeal dystonia2GTPBP2 CL E G H54676617988JABERI-ELAHI SYNDROME617988CN244943OMIM11474670607434
HP:0001332HP:0012179Craniofacial dystonia2GTPBP2 CL E G H54676617988JABERI-ELAHI SYNDROME617988CN244943OMIM11474670607434
HP:0001332HP:0002356Writer's cramp2GTPBP2 CL E G H54676617988JABERI-ELAHI SYNDROME617988CN244943OMIM11474670607434
HP:0001332HP:0031960Arm dystonia2GTPBP2 CL E G H54676617988JABERI-ELAHI SYNDROME617988CN244943OMIM11474670607434
HP:0001332HP:0031959Leg dystonia2GTPBP2 CL E G H54676617988JABERI-ELAHI SYNDROME617988CN244943OMIM11474670607434
HP:0001332HP:0012049Laryngeal dystonia2HACE1 CL E G H57531464282ORPHA122721033610876
HP:0001332HP:0012179Craniofacial dystonia2HACE1 CL E G H57531464282ORPHA122721033610876
HP:0001332HP:0002356Writer's cramp2HACE1 CL E G H57531464282ORPHA122721033610876
HP:0001332HP:0031960Arm dystonia2HACE1 CL E G H57531464282ORPHA122721033610876
HP:0001332HP:0031959Leg dystonia2HACE1 CL E G H57531464282ORPHA122721033610876
HP:0001332HP:0012049Laryngeal dystonia2HIBCH CL E G H26275250620Beta-hydroxyisobutyryl-CoA deacylase deficiency250620C0342738OMIM12354908610690
HP:0001332HP:0012179Craniofacial dystonia2HIBCH CL E G H26275250620Beta-hydroxyisobutyryl-CoA deacylase deficiency250620C0342738OMIM12354908610690
HP:0001332HP:0002356Writer's cramp2HIBCH CL E G H26275250620Beta-hydroxyisobutyryl-CoA deacylase deficiency250620C0342738OMIM12354908610690
HP:0001332HP:0031960Arm dystonia2HIBCH CL E G H26275250620Beta-hydroxyisobutyryl-CoA deacylase deficiency250620C0342738OMIM12354908610690
HP:0001332HP:0031959Leg dystonia2HIBCH CL E G H26275250620Beta-hydroxyisobutyryl-CoA deacylase deficiency250620C0342738OMIM12354908610690
HP:0001332HP:0012049Laryngeal dystonia2HPRT1 CL E G H3251300322Lesch-Nyhan syndrome300322C0023374OMIM13545157308000
HP:0001332HP:0012179Craniofacial dystonia2HPRT1 CL E G H3251300322Lesch-Nyhan syndrome300322C0023374OMIM13545157308000
HP:0001332HP:0002356Writer's cramp2HPRT1 CL E G H3251300322Lesch-Nyhan syndrome300322C0023374OMIM13545157308000
HP:0001332HP:0031960Arm dystonia2HPRT1 CL E G H3251300322Lesch-Nyhan syndrome300322C0023374OMIM13545157308000
HP:0001332HP:0031959Leg dystonia2HPRT1 CL E G H3251300322Lesch-Nyhan syndrome300322C0023374OMIM13545157308000
HP:0001332HP:0012049Laryngeal dystonia2HTRA2 CL E G H274296172483-methylglutaconic aciduria, type VIII617248C4310650OMIM124414348606441
HP:0001332HP:0012179Craniofacial dystonia2HTRA2 CL E G H274296172483-methylglutaconic aciduria, type VIII617248C4310650OMIM124414348606441
HP:0001332HP:0002356Writer's cramp2HTRA2 CL E G H274296172483-methylglutaconic aciduria, type VIII617248C4310650OMIM124414348606441
HP:0001332HP:0031960Arm dystonia2HTRA2 CL E G H274296172483-methylglutaconic aciduria, type VIII617248C4310650OMIM124414348606441
HP:0001332HP:0031959Leg dystonia2HTRA2 CL E G H274296172483-methylglutaconic aciduria, type VIII617248C4310650OMIM124414348606441
HP:0001332HP:0012049Laryngeal dystonia2HTT CL E G H3064248111ORPHA17604851613004
HP:0001332HP:0012179Craniofacial dystonia2HTT CL E G H3064248111ORPHA17604851613004
HP:0001332HP:0002356Writer's cramp2HTT CL E G H3064248111ORPHA17604851613004
HP:0001332HP:0031960Arm dystonia2HTT CL E G H3064248111ORPHA17604851613004
HP:0001332HP:0031959Leg dystonia2HTT CL E G H3064248111ORPHA17604851613004
HP:0001332HP:0012049Laryngeal dystonia2HTT CL E G H3064617435Lopes-Maciel-Rodan syndrome617435C4479491OMIM17604851613004
HP:0001332HP:0012179Craniofacial dystonia2HTT CL E G H3064617435Lopes-Maciel-Rodan syndrome617435C4479491OMIM17604851613004
HP:0001332HP:0002356Writer's cramp2HTT CL E G H3064617435Lopes-Maciel-Rodan syndrome617435C4479491OMIM17604851613004
HP:0001332HP:0031960Arm dystonia2HTT CL E G H3064617435Lopes-Maciel-Rodan syndrome617435C4479491OMIM17604851613004
HP:0001332HP:0031959Leg dystonia2HTT CL E G H3064617435Lopes-Maciel-Rodan syndrome617435C4479491OMIM17604851613004
HP:0001332HP:0012049Laryngeal dystonia2IFIH1 CL E G H6413551ORPHA1117018873606951
HP:0001332HP:0012179Craniofacial dystonia2IFIH1 CL E G H6413551ORPHA1117018873606951
HP:0001332HP:0002356Writer's cramp2IFIH1 CL E G H6413551ORPHA1117018873606951
HP:0001332HP:0031960Arm dystonia2IFIH1 CL E G H6413551ORPHA1117018873606951
HP:0001332HP:0031959Leg dystonia2IFIH1 CL E G H6413551ORPHA1117018873606951
HP:0001332HP:0012049Laryngeal dystonia2IFIH1 CL E G H64135615846Aicardi-Goutieres syndrome 7615846C3888244OMIM1117018873606951
HP:0001332HP:0012179Craniofacial dystonia2IFIH1 CL E G H64135615846Aicardi-Goutieres syndrome 7615846C3888244OMIM1117018873606951
HP:0001332HP:0002356Writer's cramp2IFIH1 CL E G H64135615846Aicardi-Goutieres syndrome 7615846C3888244OMIM1117018873606951
HP:0001332HP:0031960Arm dystonia2IFIH1 CL E G H64135615846Aicardi-Goutieres syndrome 7615846C3888244OMIM1117018873606951
HP:0001332HP:0031959Leg dystonia2IFIH1 CL E G H64135615846Aicardi-Goutieres syndrome 7615846C3888244OMIM1117018873606951
HP:0001332HP:0012049Laryngeal dystonia2IRF2BPL CL E G H64207618088NEURODEVELOPMENTAL DISORDER WITH REGRESSION, ABNORMAL MOVEMENTS, LOSS OF SPEECH, AND SEIZURES618088CN252701OMIM131214282611720
HP:0001332HP:0012179Craniofacial dystonia2IRF2BPL CL E G H64207618088NEURODEVELOPMENTAL DISORDER WITH REGRESSION, ABNORMAL MOVEMENTS, LOSS OF SPEECH, AND SEIZURES618088CN252701OMIM131214282611720
HP:0001332HP:0002356Writer's cramp2IRF2BPL CL E G H64207618088NEURODEVELOPMENTAL DISORDER WITH REGRESSION, ABNORMAL MOVEMENTS, LOSS OF SPEECH, AND SEIZURES618088CN252701OMIM131214282611720
HP:0001332HP:0031960Arm dystonia2IRF2BPL CL E G H64207618088NEURODEVELOPMENTAL DISORDER WITH REGRESSION, ABNORMAL MOVEMENTS, LOSS OF SPEECH, AND SEIZURES618088CN252701OMIM131214282611720
HP:0001332HP:0031959Leg dystonia2IRF2BPL CL E G H64207618088NEURODEVELOPMENTAL DISORDER WITH REGRESSION, ABNORMAL MOVEMENTS, LOSS OF SPEECH, AND SEIZURES618088CN252701OMIM131214282611720
HP:0001332HP:0012049Laryngeal dystonia2JPH3 CL E G H57338606438Huntington disease-like 2606438C1847987OMIM117614203605268
HP:0001332HP:0012179Craniofacial dystonia2JPH3 CL E G H57338606438Huntington disease-like 2606438C1847987OMIM117614203605268
HP:0001332HP:0002356Writer's cramp2JPH3 CL E G H57338606438Huntington disease-like 2606438C1847987OMIM117614203605268
HP:0001332HP:0031960Arm dystonia2JPH3 CL E G H57338606438Huntington disease-like 2606438C1847987OMIM117614203605268
HP:0001332HP:0031959Leg dystonia2JPH3 CL E G H57338606438Huntington disease-like 2606438C1847987OMIM117614203605268
HP:0001332HP:0012049Laryngeal dystonia2KCNQ2 CL E G H3785439218ORPHA119626296602235
HP:0001332HP:0012179Craniofacial dystonia2KCNQ2 CL E G H3785439218ORPHA119626296602235
HP:0001332HP:0002356Writer's cramp2KCNQ2 CL E G H3785439218ORPHA119626296602235
HP:0001332HP:0031960Arm dystonia2KCNQ2 CL E G H3785439218ORPHA119626296602235
HP:0001332HP:0031959Leg dystonia2KCNQ2 CL E G H3785439218ORPHA119626296602235
HP:0001332HP:0012049Laryngeal dystonia2KCNQ2 CL E G H3785613720Early infantile epileptic encephalopathy 7613720C3150986OMIM119626296602235
HP:0001332HP:0012179Craniofacial dystonia2KCNQ2 CL E G H3785613720Early infantile epileptic encephalopathy 7613720C3150986OMIM119626296602235
HP:0001332HP:0002356Writer's cramp2KCNQ2 CL E G H3785613720Early infantile epileptic encephalopathy 7613720C3150986OMIM119626296602235
HP:0001332HP:0031960Arm dystonia2KCNQ2 CL E G H3785613720Early infantile epileptic encephalopathy 7613720C3150986OMIM119626296602235
HP:0001332HP:0031959Leg dystonia2KCNQ2 CL E G H3785613720Early infantile epileptic encephalopathy 7613720C3150986OMIM119626296602235
HP:0001332HP:0012049Laryngeal dystonia2LIPT1 CL E G H51601255241ORPHA112429569610284
HP:0001332HP:0012179Craniofacial dystonia2LIPT1 CL E G H51601255241ORPHA112429569610284
HP:0001332HP:0002356Writer's cramp2LIPT1 CL E G H51601255241ORPHA112429569610284
HP:0001332HP:0031960Arm dystonia2LIPT1 CL E G H51601255241ORPHA112429569610284
HP:0001332HP:0031959Leg dystonia2LIPT1 CL E G H51601255241ORPHA112429569610284
HP:0001332HP:0012049Laryngeal dystonia2LIPT1 CL E G H51601616299Lipoyltransferase 1 deficiency616299C4225379OMIM112429569610284
HP:0001332HP:0012179Craniofacial dystonia2LIPT1 CL E G H51601616299Lipoyltransferase 1 deficiency616299C4225379OMIM112429569610284
HP:0001332HP:0002356Writer's cramp2LIPT1 CL E G H51601616299Lipoyltransferase 1 deficiency616299C4225379OMIM112429569610284
HP:0001332HP:0031960Arm dystonia2LIPT1 CL E G H51601616299Lipoyltransferase 1 deficiency616299C4225379OMIM112429569610284
HP:0001332HP:0031959Leg dystonia2LIPT1 CL E G H51601616299Lipoyltransferase 1 deficiency616299C4225379OMIM112429569610284
HP:0001332HP:0012049Laryngeal dystonia2LIPT2 CL E G H387787617668ENCEPHALOPATHY, NEONATAL SEVERE, WITH LACTIC ACIDOSIS AND BRAIN ABNORMALITIES617668C4540052OMIM111337216617659
HP:0001332HP:0012179Craniofacial dystonia2LIPT2 CL E G H387787617668ENCEPHALOPATHY, NEONATAL SEVERE, WITH LACTIC ACIDOSIS AND BRAIN ABNORMALITIES617668C4540052OMIM111337216617659
HP:0001332HP:0002356Writer's cramp2LIPT2 CL E G H387787617668ENCEPHALOPATHY, NEONATAL SEVERE, WITH LACTIC ACIDOSIS AND BRAIN ABNORMALITIES617668C4540052OMIM111337216617659
HP:0001332HP:0031960Arm dystonia2LIPT2 CL E G H387787617668ENCEPHALOPATHY, NEONATAL SEVERE, WITH LACTIC ACIDOSIS AND BRAIN ABNORMALITIES617668C4540052OMIM111337216617659
HP:0001332HP:0031959Leg dystonia2LIPT2 CL E G H387787617668ENCEPHALOPATHY, NEONATAL SEVERE, WITH LACTIC ACIDOSIS AND BRAIN ABNORMALITIES617668C4540052OMIM111337216617659
HP:0001332HP:0012049Laryngeal dystonia2MARS2 CL E G H92935314603ORPHA120425133609728
HP:0001332HP:0012179Craniofacial dystonia2MARS2 CL E G H92935314603ORPHA120425133609728
HP:0001332HP:0002356Writer's cramp2MARS2 CL E G H92935314603ORPHA120425133609728
HP:0001332HP:0031960Arm dystonia2MARS2 CL E G H92935314603ORPHA120425133609728
HP:0001332HP:0031959Leg dystonia2MARS2 CL E G H92935314603ORPHA120425133609728
HP:0001332HP:0012049Laryngeal dystonia2MARS2 CL E G H92935611390Ataxia, spastic, 3, autosomal recessive611390C1969645OMIM120425133609728
HP:0001332HP:0012179Craniofacial dystonia2MARS2 CL E G H92935611390Ataxia, spastic, 3, autosomal recessive611390C1969645OMIM120425133609728
HP:0001332HP:0002356Writer's cramp2MARS2 CL E G H92935611390Ataxia, spastic, 3, autosomal recessive611390C1969645OMIM120425133609728
HP:0001332HP:0031960Arm dystonia2MARS2 CL E G H92935611390Ataxia, spastic, 3, autosomal recessive611390C1969645OMIM120425133609728
HP:0001332HP:0031959Leg dystonia2MARS2 CL E G H92935611390Ataxia, spastic, 3, autosomal recessive611390C1969645OMIM120425133609728
HP:0001332HP:0012049Laryngeal dystonia2MAT1A CL E G H4143250850Hepatic methionine adenosyltransferase deficiency250850C0268621OMIM13536903610550
HP:0001332HP:0012179Craniofacial dystonia2MAT1A CL E G H4143250850Hepatic methionine adenosyltransferase deficiency250850C0268621OMIM13536903610550
HP:0001332HP:0002356Writer's cramp2MAT1A CL E G H4143250850Hepatic methionine adenosyltransferase deficiency250850C0268621OMIM13536903610550
HP:0001332HP:0031960Arm dystonia2MAT1A CL E G H4143250850Hepatic methionine adenosyltransferase deficiency250850C0268621OMIM13536903610550
HP:0001332HP:0031959Leg dystonia2MAT1A CL E G H4143250850Hepatic methionine adenosyltransferase deficiency250850C0268621OMIM13536903610550
HP:0001332HP:0012049Laryngeal dystonia2MCOLN1 CL E G H57192252650Mucolipidosis type IV252650C0238286OMIM166913356605248
HP:0001332HP:0012179Craniofacial dystonia2MCOLN1 CL E G H57192252650Mucolipidosis type IV252650C0238286OMIM166913356605248
HP:0001332HP:0002356Writer's cramp2MCOLN1 CL E G H57192252650Mucolipidosis type IV252650C0238286OMIM166913356605248
HP:0001332HP:0031960Arm dystonia2MCOLN1 CL E G H57192252650Mucolipidosis type IV252650C0238286OMIM166913356605248
HP:0001332HP:0031959Leg dystonia2MCOLN1 CL E G H57192252650Mucolipidosis type IV252650C0238286OMIM166913356605248
HP:0001332HP:0012049Laryngeal dystonia2MDH2 CL E G H4191617339Epileptic encephalopathy, early infantile, 51617339C4479208OMIM15936971154100
HP:0001332HP:0012179Craniofacial dystonia2MDH2 CL E G H4191617339Epileptic encephalopathy, early infantile, 51617339C4479208OMIM15936971154100
HP:0001332HP:0002356Writer's cramp2MDH2 CL E G H4191617339Epileptic encephalopathy, early infantile, 51617339C4479208OMIM15936971154100
HP:0001332HP:0031960Arm dystonia2MDH2 CL E G H4191617339Epileptic encephalopathy, early infantile, 51617339C4479208OMIM15936971154100
HP:0001332HP:0031959Leg dystonia2MDH2 CL E G H4191617339Epileptic encephalopathy, early infantile, 51617339C4479208OMIM15936971154100
HP:0001332HP:0012049Laryngeal dystonia2MECP2 CL E G H4204778ORPHA119256990300005
HP:0001332HP:0012179Craniofacial dystonia2MECP2 CL E G H4204778ORPHA119256990300005
HP:0001332HP:0002356Writer's cramp2MECP2 CL E G H4204778ORPHA119256990300005
HP:0001332HP:0031960Arm dystonia2MECP2 CL E G H4204778ORPHA119256990300005
HP:0001332HP:0031959Leg dystonia2MECP2 CL E G H4204778ORPHA119256990300005
HP:0001332HP:0012049Laryngeal dystonia2MECP2 CL E G H4204312750Rett syndrome312750C0035372OMIM119256990300005
HP:0001332HP:0012179Craniofacial dystonia2MECP2 CL E G H4204312750Rett syndrome312750C0035372OMIM119256990300005
HP:0001332HP:0002356Writer's cramp2MECP2 CL E G H4204312750Rett syndrome312750C0035372OMIM119256990300005
HP:0001332HP:0031960Arm dystonia2MECP2 CL E G H4204312750Rett syndrome312750C0035372OMIM119256990300005
HP:0001332HP:0031959Leg dystonia2MECP2 CL E G H4204312750Rett syndrome312750C0035372OMIM119256990300005
HP:0001332HP:0012049Laryngeal dystonia2MICU1 CL E G H10367401768ORPHA12651530605084
HP:0001332HP:0012179Craniofacial dystonia2MICU1 CL E G H10367401768ORPHA12651530605084
HP:0001332HP:0002356Writer's cramp2MICU1 CL E G H10367401768ORPHA12651530605084
HP:0001332HP:0031960Arm dystonia2MICU1 CL E G H10367401768ORPHA12651530605084
HP:0001332HP:0031959Leg dystonia2MICU1 CL E G H10367401768ORPHA12651530605084
HP:0001332HP:0012049Laryngeal dystonia2MMADHC CL E G H27249277410Methylmalonic acidemia with homocystinuria cblD277410C1848552OMIM128225221611935
HP:0001332HP:0012179Craniofacial dystonia2MMADHC CL E G H27249277410Methylmalonic acidemia with homocystinuria cblD277410C1848552OMIM128225221611935
HP:0001332HP:0002356Writer's cramp2MMADHC CL E G H27249277410Methylmalonic acidemia with homocystinuria cblD277410C1848552OMIM128225221611935
HP:0001332HP:0031960Arm dystonia2MMADHC CL E G H27249277410Methylmalonic acidemia with homocystinuria cblD277410C1848552OMIM128225221611935
HP:0001332HP:0031959Leg dystonia2MMADHC CL E G H27249277410Methylmalonic acidemia with homocystinuria cblD277410C1848552OMIM128225221611935
HP:0001332HP:0012049Laryngeal dystonia2MMUT CL E G H459479312ORPHA18967526609058
HP:0001332HP:0012179Craniofacial dystonia2MMUT CL E G H459479312ORPHA18967526609058
HP:0001332HP:0002356Writer's cramp2MMUT CL E G H459479312ORPHA18967526609058
HP:0001332HP:0031960Arm dystonia2MMUT CL E G H459479312ORPHA18967526609058
HP:0001332HP:0031959Leg dystonia2MMUT CL E G H459479312ORPHA18967526609058
HP:0001332HP:0012049Laryngeal dystonia2MPV17 CL E G H4358256810Navajo neurohepatopathy256810C1850406OMIM12647224137960
HP:0001332HP:0012179Craniofacial dystonia2MPV17 CL E G H4358256810Navajo neurohepatopathy256810C1850406OMIM12647224137960
HP:0001332HP:0002356Writer's cramp2MPV17 CL E G H4358256810Navajo neurohepatopathy256810C1850406OMIM12647224137960
HP:0001332HP:0031960Arm dystonia2MPV17 CL E G H4358256810Navajo neurohepatopathy256810C1850406OMIM12647224137960
HP:0001332HP:0031959Leg dystonia2MPV17 CL E G H4358256810Navajo neurohepatopathy256810C1850406OMIM12647224137960
HP:0001332HP:0012049Laryngeal dystonia2MRE11 CL E G H4361251347ORPHA119117230600814
HP:0001332HP:0012179Craniofacial dystonia2MRE11 CL E G H4361251347ORPHA119117230600814
HP:0001332HP:0002356Writer's cramp2MRE11 CL E G H4361251347ORPHA119117230600814
HP:0001332HP:0031960Arm dystonia2MRE11 CL E G H4361251347ORPHA119117230600814
HP:0001332HP:0031959Leg dystonia2MRE11 CL E G H4361251347ORPHA119117230600814
HP:0001332HP:0012049Laryngeal dystonia2MRE11 CL E G H4361604391Ataxia-telangiectasia-like disorder 1604391C1858391OMIM119117230600814
HP:0001332HP:0012179Craniofacial dystonia2MRE11 CL E G H4361604391Ataxia-telangiectasia-like disorder 1604391C1858391OMIM119117230600814
HP:0001332HP:0002356Writer's cramp2MRE11 CL E G H4361604391Ataxia-telangiectasia-like disorder 1604391C1858391OMIM119117230600814
HP:0001332HP:0031960Arm dystonia2MRE11 CL E G H4361604391Ataxia-telangiectasia-like disorder 1604391C1858391OMIM119117230600814
HP:0001332HP:0031959Leg dystonia2MRE11 CL E G H4361604391Ataxia-telangiectasia-like disorder 1604391C1858391OMIM119117230600814
HP:0001332HP:0012049Laryngeal dystonia2MRPS34 CL E G H65993617664COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 32617664C4540029OMIM113816618611994
HP:0001332HP:0012179Craniofacial dystonia2MRPS34 CL E G H65993617664COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 32617664C4540029OMIM113816618611994
HP:0001332HP:0002356Writer's cramp2MRPS34 CL E G H65993617664COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 32617664C4540029OMIM113816618611994
HP:0001332HP:0031960Arm dystonia2MRPS34 CL E G H65993617664COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 32617664C4540029OMIM113816618611994
HP:0001332HP:0031959Leg dystonia2MRPS34 CL E G H65993617664COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 32617664C4540029OMIM113816618611994
HP:0001332HP:0012049Laryngeal dystonia2MT-ATP6 CL E G H4508225154ORPHA17414516060
HP:0001332HP:0012179Craniofacial dystonia2MT-ATP6 CL E G H4508225154ORPHA17414516060
HP:0001332HP:0002356Writer's cramp2MT-ATP6 CL E G H4508225154ORPHA17414516060
HP:0001332HP:0031960Arm dystonia2MT-ATP6 CL E G H4508225154ORPHA17414516060
HP:0001332HP:0031959Leg dystonia2MT-ATP6 CL E G H4508225154ORPHA17414516060
HP:0001332HP:0012049Laryngeal dystonia2MT-ATP6 CL E G H4508535000Leber's optic atrophy535000C0917796OMIM17414516060
HP:0001332HP:0012179Craniofacial dystonia2MT-ATP6 CL E G H4508535000Leber's optic atrophy535000C0917796OMIM17414516060
HP:0001332HP:0002356Writer's cramp2MT-ATP6 CL E G H4508535000Leber's optic atrophy535000C0917796OMIM17414516060
HP:0001332HP:0031960Arm dystonia2MT-ATP6 CL E G H4508535000Leber's optic atrophy535000C0917796OMIM17414516060
HP:0001332HP:0031959Leg dystonia2MT-ATP6 CL E G H4508535000Leber's optic atrophy535000C0917796OMIM17414516060
HP:0001332HP:0012049Laryngeal dystonia2MT-CO3 CL E G H4514535000Leber's optic atrophy535000C0917796OMIM17422516050
HP:0001332HP:0012179Craniofacial dystonia2MT-CO3 CL E G H4514535000Leber's optic atrophy535000C0917796OMIM17422516050
HP:0001332HP:0002356Writer's cramp2MT-CO3 CL E G H4514535000Leber's optic atrophy535000C0917796OMIM17422516050
HP:0001332HP:0031960Arm dystonia2MT-CO3 CL E G H4514535000Leber's optic atrophy535000C0917796OMIM17422516050
HP:0001332HP:0031959Leg dystonia2MT-CO3 CL E G H4514535000Leber's optic atrophy535000C0917796OMIM17422516050
HP:0001332HP:0012049Laryngeal dystonia2MT-CYB CL E G H4519535000Leber's optic atrophy535000C0917796OMIM17427516020
HP:0001332HP:0012179Craniofacial dystonia2MT-CYB CL E G H4519535000Leber's optic atrophy535000C0917796OMIM17427516020
HP:0001332HP:0002356Writer's cramp2MT-CYB CL E G H4519535000Leber's optic atrophy535000C0917796OMIM17427516020
HP:0001332HP:0031960Arm dystonia2MT-CYB CL E G H4519535000Leber's optic atrophy535000C0917796OMIM17427516020
HP:0001332HP:0031959Leg dystonia2MT-CYB CL E G H4519535000Leber's optic atrophy535000C0917796OMIM17427516020
HP:0001332HP:0012049Laryngeal dystonia2MT-ND1 CL E G H4535535000Leber's optic atrophy535000C0917796OMIM17455516000
HP:0001332HP:0012179Craniofacial dystonia2MT-ND1 CL E G H4535535000Leber's optic atrophy535000C0917796OMIM17455516000
HP:0001332HP:0002356Writer's cramp2MT-ND1 CL E G H4535535000Leber's optic atrophy535000C0917796OMIM17455516000
HP:0001332HP:0031960Arm dystonia2MT-ND1 CL E G H4535535000Leber's optic atrophy535000C0917796OMIM17455516000
HP:0001332HP:0031959Leg dystonia2MT-ND1 CL E G H4535535000Leber's optic atrophy535000C0917796OMIM17455516000
HP:0001332HP:0012049Laryngeal dystonia2MT-ND2 CL E G H4536535000Leber's optic atrophy535000C0917796OMIM17456516001
HP:0001332HP:0012179Craniofacial dystonia2MT-ND2 CL E G H4536535000Leber's optic atrophy535000C0917796OMIM17456516001
HP:0001332HP:0002356Writer's cramp2MT-ND2 CL E G H4536535000Leber's optic atrophy535000C0917796OMIM17456516001
HP:0001332HP:0031960Arm dystonia2MT-ND2 CL E G H4536535000Leber's optic atrophy535000C0917796OMIM17456516001
HP:0001332HP:0031959Leg dystonia2MT-ND2 CL E G H4536535000Leber's optic atrophy535000C0917796OMIM17456516001
HP:0001332HP:0012049Laryngeal dystonia2MT-ND4 CL E G H4538535000Leber's optic atrophy535000C0917796OMIM17459516003
HP:0001332HP:0012179Craniofacial dystonia2MT-ND4 CL E G H4538535000Leber's optic atrophy535000C0917796OMIM17459516003
HP:0001332HP:0002356Writer's cramp2MT-ND4 CL E G H4538535000Leber's optic atrophy535000C0917796OMIM17459516003
HP:0001332HP:0031960Arm dystonia2MT-ND4 CL E G H4538535000Leber's optic atrophy535000C0917796OMIM17459516003
HP:0001332HP:0031959Leg dystonia2MT-ND4 CL E G H4538535000Leber's optic atrophy535000C0917796OMIM17459516003
HP:0001332HP:0012049Laryngeal dystonia2MT-ND4L CL E G H4539535000Leber's optic atrophy535000C0917796OMIM17460516004
HP:0001332HP:0012179Craniofacial dystonia2MT-ND4L CL E G H4539535000Leber's optic atrophy535000C0917796OMIM17460516004
HP:0001332HP:0002356Writer's cramp2MT-ND4L CL E G H4539535000Leber's optic atrophy535000C0917796OMIM17460516004
HP:0001332HP:0031960Arm dystonia2MT-ND4L CL E G H4539535000Leber's optic atrophy535000C0917796OMIM17460516004
HP:0001332HP:0031959Leg dystonia2MT-ND4L CL E G H4539535000Leber's optic atrophy535000C0917796OMIM17460516004
HP:0001332HP:0012049Laryngeal dystonia2MT-ND5 CL E G H4540535000Leber's optic atrophy535000C0917796OMIM17461516005
HP:0001332HP:0012179Craniofacial dystonia2MT-ND5 CL E G H4540535000Leber's optic atrophy535000C0917796OMIM17461516005
HP:0001332HP:0002356Writer's cramp2MT-ND5 CL E G H4540535000Leber's optic atrophy535000C0917796OMIM17461516005
HP:0001332HP:0031960Arm dystonia2MT-ND5 CL E G H4540535000Leber's optic atrophy535000C0917796OMIM17461516005
HP:0001332HP:0031959Leg dystonia2MT-ND5 CL E G H4540535000Leber's optic atrophy535000C0917796OMIM17461516005
HP:0001332HP:0012049Laryngeal dystonia2MT-ND6 CL E G H4541535000Leber's optic atrophy535000C0917796OMIM17462516006
HP:0001332HP:0012179Craniofacial dystonia2MT-ND6 CL E G H4541535000Leber's optic atrophy535000C0917796OMIM17462516006
HP:0001332HP:0002356Writer's cramp2MT-ND6 CL E G H4541535000Leber's optic atrophy535000C0917796OMIM17462516006
HP:0001332HP:0031960Arm dystonia2MT-ND6 CL E G H4541535000Leber's optic atrophy535000C0917796OMIM17462516006
HP:0001332HP:0031959Leg dystonia2MT-ND6 CL E G H4541535000Leber's optic atrophy535000C0917796OMIM17462516006
HP:0001332HP:0012049Laryngeal dystonia2MTFMT CL E G H123263255241ORPHA124329666611766
HP:0001332HP:0012179Craniofacial dystonia2MTFMT CL E G H123263255241ORPHA124329666611766
HP:0001332HP:0002356Writer's cramp2MTFMT CL E G H123263255241ORPHA124329666611766
HP:0001332HP:0031960Arm dystonia2MTFMT CL E G H123263255241ORPHA124329666611766
HP:0001332HP:0031959Leg dystonia2MTFMT CL E G H123263255241ORPHA124329666611766
HP:0001332HP:0012049Laryngeal dystonia2NADK2 CL E G H133686431361ORPHA122126404615787
HP:0001332HP:0012179Craniofacial dystonia2NADK2 CL E G H133686431361ORPHA122126404615787
HP:0001332HP:0002356Writer's cramp2NADK2 CL E G H133686431361ORPHA122126404615787
HP:0001332HP:0031960Arm dystonia2NADK2 CL E G H133686431361ORPHA122126404615787
HP:0001332HP:0031959Leg dystonia2NADK2 CL E G H133686431361ORPHA122126404615787
HP:0001332HP:0012049Laryngeal dystonia2NADK2 CL E G H1336866160342,4-Dienoyl-CoA reductase deficiency616034C1857252OMIM122126404615787
HP:0001332HP:0012179Craniofacial dystonia2NADK2 CL E G H1336866160342,4-Dienoyl-CoA reductase deficiency616034C1857252OMIM122126404615787
HP:0001332HP:0002356Writer's cramp2NADK2 CL E G H1336866160342,4-Dienoyl-CoA reductase deficiency616034C1857252OMIM122126404615787
HP:0001332HP:0031960Arm dystonia2NADK2 CL E G H1336866160342,4-Dienoyl-CoA reductase deficiency616034C1857252OMIM122126404615787
HP:0001332HP:0031959Leg dystonia2NADK2 CL E G H1336866160342,4-Dienoyl-CoA reductase deficiency616034C1857252OMIM122126404615787
HP:0001332HP:0012049Laryngeal dystonia2NDUFA10 CL E G H4705255241ORPHA14217684603835
HP:0001332HP:0012179Craniofacial dystonia2NDUFA10 CL E G H4705255241ORPHA14217684603835
HP:0001332HP:0002356Writer's cramp2NDUFA10 CL E G H4705255241ORPHA14217684603835
HP:0001332HP:0031960Arm dystonia2NDUFA10 CL E G H4705255241ORPHA14217684603835
HP:0001332HP:0031959Leg dystonia2NDUFA10 CL E G H4705255241ORPHA14217684603835
HP:0001332HP:0012049Laryngeal dystonia2NDUFA12 CL E G H55967255241ORPHA19223987614530
HP:0001332HP:0012179Craniofacial dystonia2NDUFA12 CL E G H55967255241ORPHA19223987614530
HP:0001332HP:0002356Writer's cramp2NDUFA12 CL E G H55967255241ORPHA19223987614530
HP:0001332HP:0031960Arm dystonia2NDUFA12 CL E G H55967255241ORPHA19223987614530
HP:0001332HP:0031959Leg dystonia2NDUFA12 CL E G H55967255241ORPHA19223987614530
HP:0001332HP:0012049Laryngeal dystonia2NDUFA12 CL E G H55967618244MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 23618244OMIM19223987614530
HP:0001332HP:0012179Craniofacial dystonia2NDUFA12 CL E G H55967618244MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 23618244OMIM19223987614530
HP:0001332HP:0002356Writer's cramp2NDUFA12 CL E G H55967618244MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 23618244OMIM19223987614530
HP:0001332HP:0031960Arm dystonia2NDUFA12 CL E G H55967618244MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 23618244OMIM19223987614530
HP:0001332HP:0031959Leg dystonia2NDUFA12 CL E G H55967618244MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 23618244OMIM19223987614530
HP:0001332HP:0012049Laryngeal dystonia2NDUFA13 CL E G H51079255241ORPHA16517194609435
HP:0001332HP:0012179Craniofacial dystonia2NDUFA13 CL E G H51079255241ORPHA16517194609435
HP:0001332HP:0002356Writer's cramp2NDUFA13 CL E G H51079255241ORPHA16517194609435
HP:0001332HP:0031960Arm dystonia2NDUFA13 CL E G H51079255241ORPHA16517194609435
HP:0001332HP:0031959Leg dystonia2NDUFA13 CL E G H51079255241ORPHA16517194609435
HP:0001332HP:0012049Laryngeal dystonia2NDUFA2 CL E G H4695255241ORPHA1957685602137
HP:0001332HP:0012179Craniofacial dystonia2NDUFA2 CL E G H4695255241ORPHA1957685602137
HP:0001332HP:0002356Writer's cramp2NDUFA2 CL E G H4695255241ORPHA1957685602137
HP:0001332HP:0031960Arm dystonia2NDUFA2 CL E G H4695255241ORPHA1957685602137
HP:0001332HP:0031959Leg dystonia2NDUFA2 CL E G H4695255241ORPHA1957685602137
HP:0001332HP:0012049Laryngeal dystonia2NDUFA4 CL E G H4697255241ORPHA1967687603833
HP:0001332HP:0012179Craniofacial dystonia2NDUFA4 CL E G H4697255241ORPHA1967687603833
HP:0001332HP:0002356Writer's cramp2NDUFA4 CL E G H4697255241ORPHA1967687603833
HP:0001332HP:0031960Arm dystonia2NDUFA4 CL E G H4697255241ORPHA1967687603833
HP:0001332HP:0031959Leg dystonia2NDUFA4 CL E G H4697255241ORPHA1967687603833
HP:0001332HP:0012049Laryngeal dystonia2NDUFA9 CL E G H4704255241ORPHA12357693603834
HP:0001332HP:0012179Craniofacial dystonia2NDUFA9 CL E G H4704255241ORPHA12357693603834
HP:0001332HP:0002356Writer's cramp2NDUFA9 CL E G H4704255241ORPHA12357693603834
HP:0001332HP:0031960Arm dystonia2NDUFA9 CL E G H4704255241ORPHA12357693603834
HP:0001332HP:0031959Leg dystonia2NDUFA9 CL E G H4704255241ORPHA12357693603834
HP:0001332HP:0012049Laryngeal dystonia2NDUFA9 CL E G H4704618247MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 26618247OMIM12357693603834
HP:0001332HP:0012179Craniofacial dystonia2NDUFA9 CL E G H4704618247MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 26618247OMIM12357693603834
HP:0001332HP:0002356Writer's cramp2NDUFA9 CL E G H4704618247MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 26618247OMIM12357693603834
HP:0001332HP:0031960Arm dystonia2NDUFA9 CL E G H4704618247MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 26618247OMIM12357693603834
HP:0001332HP:0031959Leg dystonia2NDUFA9 CL E G H4704618247MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 26618247OMIM12357693603834
HP:0001332HP:0012049Laryngeal dystonia2NDUFAF2 CL E G H91942255241ORPHA113228086609653
HP:0001332HP:0012179Craniofacial dystonia2NDUFAF2 CL E G H91942255241ORPHA113228086609653
HP:0001332HP:0002356Writer's cramp2NDUFAF2 CL E G H91942255241ORPHA113228086609653
HP:0001332HP:0031960Arm dystonia2NDUFAF2 CL E G H91942255241ORPHA113228086609653
HP:0001332HP:0031959Leg dystonia2NDUFAF2 CL E G H91942255241ORPHA113228086609653
HP:0001332HP:0012049Laryngeal dystonia2NDUFAF4 CL E G H29078618237MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 15618237OMIM113621034611776
HP:0001332HP:0012179Craniofacial dystonia2NDUFAF4 CL E G H29078618237MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 15618237OMIM113621034611776
HP:0001332HP:0002356Writer's cramp2NDUFAF4 CL E G H29078618237MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 15618237OMIM113621034611776
HP:0001332HP:0031960Arm dystonia2NDUFAF4 CL E G H29078618237MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 15618237OMIM113621034611776
HP:0001332HP:0031959Leg dystonia2NDUFAF4 CL E G H29078618237MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 15618237OMIM113621034611776
HP:0001332HP:0012049Laryngeal dystonia2NDUFAF5 CL E G H79133255241ORPHA138315899612360
HP:0001332HP:0012179Craniofacial dystonia2NDUFAF5 CL E G H79133255241ORPHA138315899612360
HP:0001332HP:0002356Writer's cramp2NDUFAF5 CL E G H79133255241ORPHA138315899612360
HP:0001332HP:0031960Arm dystonia2NDUFAF5 CL E G H79133255241ORPHA138315899612360
HP:0001332HP:0031959Leg dystonia2NDUFAF5 CL E G H79133255241ORPHA138315899612360
HP:0001332HP:0012049Laryngeal dystonia2NDUFAF5 CL E G H79133618238MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 16618238OMIM138315899612360
HP:0001332HP:0012179Craniofacial dystonia2NDUFAF5 CL E G H79133618238MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 16618238OMIM138315899612360
HP:0001332HP:0002356Writer's cramp2NDUFAF5 CL E G H79133618238MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 16618238OMIM138315899612360
HP:0001332HP:0031960Arm dystonia2NDUFAF5 CL E G H79133618238MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 16618238OMIM138315899612360
HP:0001332HP:0031959Leg dystonia2NDUFAF5 CL E G H79133618238MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 16618238OMIM138315899612360
HP:0001332HP:0012049Laryngeal dystonia2NDUFAF6 CL E G H137682255241ORPHA128128625612392
HP:0001332HP:0012179Craniofacial dystonia2NDUFAF6 CL E G H137682255241ORPHA128128625612392
HP:0001332HP:0002356Writer's cramp2NDUFAF6 CL E G H137682255241ORPHA128128625612392
HP:0001332HP:0031960Arm dystonia2NDUFAF6 CL E G H137682255241ORPHA128128625612392
HP:0001332HP:0031959Leg dystonia2NDUFAF6 CL E G H137682255241ORPHA128128625612392
HP:0001332HP:0012049Laryngeal dystonia2NDUFAF6 CL E G H137682618239MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 17618239OMIM128128625612392
HP:0001332HP:0012179Craniofacial dystonia2NDUFAF6 CL E G H137682618239MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 17618239OMIM128128625612392
HP:0001332HP:0002356Writer's cramp2NDUFAF6 CL E G H137682618239MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 17618239OMIM128128625612392
HP:0001332HP:0031960Arm dystonia2NDUFAF6 CL E G H137682618239MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 17618239OMIM128128625612392
HP:0001332HP:0031959Leg dystonia2NDUFAF6 CL E G H137682618239MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 17618239OMIM128128625612392
HP:0001332HP:0012049Laryngeal dystonia2NDUFS1 CL E G H4719255241ORPHA14247707157655
HP:0001332HP:0012179Craniofacial dystonia2NDUFS1 CL E G H4719255241ORPHA14247707157655
HP:0001332HP:0002356Writer's cramp2NDUFS1 CL E G H4719255241ORPHA14247707157655
HP:0001332HP:0031960Arm dystonia2NDUFS1 CL E G H4719255241ORPHA14247707157655
HP:0001332HP:0031959Leg dystonia2NDUFS1 CL E G H4719255241ORPHA14247707157655
HP:0001332HP:0012049Laryngeal dystonia2NDUFS1 CL E G H4719618226MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 5618226OMIM14247707157655
HP:0001332HP:0012179Craniofacial dystonia2NDUFS1 CL E G H4719618226MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 5618226OMIM14247707157655
HP:0001332HP:0002356Writer's cramp2NDUFS1 CL E G H4719618226MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 5618226OMIM14247707157655
HP:0001332HP:0031960Arm dystonia2NDUFS1 CL E G H4719618226MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 5618226OMIM14247707157655
HP:0001332HP:0031959Leg dystonia2NDUFS1 CL E G H4719618226MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 5618226OMIM14247707157655
HP:0001332HP:0012049Laryngeal dystonia2NDUFS2 CL E G H4720255241ORPHA12477708602985
HP:0001332HP:0012179Craniofacial dystonia2NDUFS2 CL E G H4720255241ORPHA12477708602985
HP:0001332HP:0002356Writer's cramp2NDUFS2 CL E G H4720255241ORPHA12477708602985
HP:0001332HP:0031960Arm dystonia2NDUFS2 CL E G H4720255241ORPHA12477708602985
HP:0001332HP:0031959Leg dystonia2NDUFS2 CL E G H4720255241ORPHA12477708602985
HP:0001332HP:0012049Laryngeal dystonia2NDUFS3 CL E G H4722255241ORPHA11477710603846
HP:0001332HP:0012179Craniofacial dystonia2NDUFS3 CL E G H4722255241ORPHA11477710603846
HP:0001332HP:0002356Writer's cramp2NDUFS3 CL E G H4722255241ORPHA11477710603846
HP:0001332HP:0031960Arm dystonia2NDUFS3 CL E G H4722255241ORPHA11477710603846
HP:0001332HP:0031959Leg dystonia2NDUFS3 CL E G H4722255241ORPHA11477710603846
HP:0001332HP:0012049Laryngeal dystonia2NDUFS3 CL E G H4722618230MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 8618230OMIM11477710603846
HP:0001332HP:0012179Craniofacial dystonia2NDUFS3 CL E G H4722618230MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 8618230OMIM11477710603846
HP:0001332HP:0002356Writer's cramp2NDUFS3 CL E G H4722618230MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 8618230OMIM11477710603846
HP:0001332HP:0031960Arm dystonia2NDUFS3 CL E G H4722618230MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 8618230OMIM11477710603846
HP:0001332HP:0031959Leg dystonia2NDUFS3 CL E G H4722618230MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 8618230OMIM11477710603846
HP:0001332HP:0012049Laryngeal dystonia2NDUFS4 CL E G H4724255241ORPHA11397711602694
HP:0001332HP:0012179Craniofacial dystonia2NDUFS4 CL E G H4724255241ORPHA11397711602694
HP:0001332HP:0002356Writer's cramp2NDUFS4 CL E G H4724255241ORPHA11397711602694
HP:0001332HP:0031960Arm dystonia2NDUFS4 CL E G H4724255241ORPHA11397711602694
HP:0001332HP:0031959Leg dystonia2NDUFS4 CL E G H4724255241ORPHA11397711602694
HP:0001332HP:0012049Laryngeal dystonia2NDUFS7 CL E G H374291255241ORPHA12157714601825
HP:0001332HP:0012179Craniofacial dystonia2NDUFS7 CL E G H374291255241ORPHA12157714601825
HP:0001332HP:0002356Writer's cramp2NDUFS7 CL E G H374291255241ORPHA12157714601825
HP:0001332HP:0031960Arm dystonia2NDUFS7 CL E G H374291255241ORPHA12157714601825
HP:0001332HP:0031959Leg dystonia2NDUFS7 CL E G H374291255241ORPHA12157714601825
HP:0001332HP:0012049Laryngeal dystonia2NDUFS7 CL E G H374291618224MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 3618224OMIM12157714601825
HP:0001332HP:0012179Craniofacial dystonia2NDUFS7 CL E G H374291618224MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 3618224OMIM12157714601825
HP:0001332HP:0002356Writer's cramp2NDUFS7 CL E G H374291618224MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 3618224OMIM12157714601825
HP:0001332HP:0031960Arm dystonia2NDUFS7 CL E G H374291618224MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 3618224OMIM12157714601825
HP:0001332HP:0031959Leg dystonia2NDUFS7 CL E G H374291618224MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 3618224OMIM12157714601825
HP:0001332HP:0012049Laryngeal dystonia2NDUFS8 CL E G H4728255241ORPHA11297715602141
HP:0001332HP:0012179Craniofacial dystonia2NDUFS8 CL E G H4728255241ORPHA11297715602141
HP:0001332HP:0002356Writer's cramp2NDUFS8 CL E G H4728255241ORPHA11297715602141
HP:0001332HP:0031960Arm dystonia2NDUFS8 CL E G H4728255241ORPHA11297715602141
HP:0001332HP:0031959Leg dystonia2NDUFS8 CL E G H4728255241ORPHA11297715602141
HP:0001332HP:0012049Laryngeal dystonia2NDUFS8 CL E G H4728618222MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 2618222OMIM11297715602141
HP:0001332HP:0012179Craniofacial dystonia2NDUFS8 CL E G H4728618222MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 2618222OMIM11297715602141
HP:0001332HP:0002356Writer's cramp2NDUFS8 CL E G H4728618222MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 2618222OMIM11297715602141
HP:0001332HP:0031960Arm dystonia2NDUFS8 CL E G H4728618222MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 2618222OMIM11297715602141
HP:0001332HP:0031959Leg dystonia2NDUFS8 CL E G H4728618222MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 2618222OMIM11297715602141
HP:0001332HP:0012049Laryngeal dystonia2NDUFV1 CL E G H4723255241ORPHA13157716161015
HP:0001332HP:0012179Craniofacial dystonia2NDUFV1 CL E G H4723255241ORPHA13157716161015
HP:0001332HP:0002356Writer's cramp2NDUFV1 CL E G H4723255241ORPHA13157716161015
HP:0001332HP:0031960Arm dystonia2NDUFV1 CL E G H4723255241ORPHA13157716161015
HP:0001332HP:0031959Leg dystonia2NDUFV1 CL E G H4723255241ORPHA13157716161015
HP:0001332HP:0012049Laryngeal dystonia2NDUFV2 CL E G H4729255241ORPHA12297717600532
HP:0001332HP:0012179Craniofacial dystonia2NDUFV2 CL E G H4729255241ORPHA12297717600532
HP:0001332HP:0002356Writer's cramp2NDUFV2 CL E G H4729255241ORPHA12297717600532
HP:0001332HP:0031960Arm dystonia2NDUFV2 CL E G H4729255241ORPHA12297717600532
HP:0001332HP:0031959Leg dystonia2NDUFV2 CL E G H4729255241ORPHA12297717600532
HP:0001332HP:0012049Laryngeal dystonia2NHLRC2 CL E G H374354618278618278618278OMIM167247310
HP:0001332HP:0012179Craniofacial dystonia2NHLRC2 CL E G H374354618278618278618278OMIM167247310
HP:0001332HP:0002356Writer's cramp2NHLRC2 CL E G H374354618278618278618278OMIM167247310
HP:0001332HP:0031960Arm dystonia2NHLRC2 CL E G H374354618278618278618278OMIM167247310
HP:0001332HP:0031959Leg dystonia2NHLRC2 CL E G H374354618278618278618278OMIM167247310
HP:0001332HP:0012049Laryngeal dystonia2NKX2-1 CL E G H7080610978Choreoathetosis, hypothyroidism, and neonatal respiratory distress610978C1970269OMIM131711825600635
HP:0001332HP:0012179Craniofacial dystonia2NKX2-1 CL E G H7080610978Choreoathetosis, hypothyroidism, and neonatal respiratory distress610978C1970269OMIM131711825600635
HP:0001332HP:0002356Writer's cramp2NKX2-1 CL E G H7080610978Choreoathetosis, hypothyroidism, and neonatal respiratory distress610978C1970269OMIM131711825600635
HP:0001332HP:0031960Arm dystonia2NKX2-1 CL E G H7080610978Choreoathetosis, hypothyroidism, and neonatal respiratory distress610978C1970269OMIM131711825600635
HP:0001332HP:0031959Leg dystonia2NKX2-1 CL E G H7080610978Choreoathetosis, hypothyroidism, and neonatal respiratory distress610978C1970269OMIM131711825600635
HP:0001332HP:0012049Laryngeal dystonia2NKX6-2 CL E G H84504527497ORPHA123319321605955
HP:0001332HP:0012179Craniofacial dystonia2NKX6-2 CL E G H84504527497ORPHA123319321605955
HP:0001332HP:0002356Writer's cramp2NKX6-2 CL E G H84504527497ORPHA123319321605955
HP:0001332HP:0031960Arm dystonia2NKX6-2 CL E G H84504527497ORPHA123319321605955
HP:0001332HP:0031959Leg dystonia2NKX6-2 CL E G H84504527497ORPHA123319321605955
HP:0001332HP:0012049Laryngeal dystonia2NKX6-2 CL E G H84504617560SPASTIC ATAXIA 8, AUTOSOMAL RECESSIVE, WITH HYPOMYELINATING LEUKODYSTROPHY617560C4479653OMIM123319321605955
HP:0001332HP:0012179Craniofacial dystonia2NKX6-2 CL E G H84504617560SPASTIC ATAXIA 8, AUTOSOMAL RECESSIVE, WITH HYPOMYELINATING LEUKODYSTROPHY617560C4479653OMIM123319321605955
HP:0001332HP:0002356Writer's cramp2NKX6-2 CL E G H84504617560SPASTIC ATAXIA 8, AUTOSOMAL RECESSIVE, WITH HYPOMYELINATING LEUKODYSTROPHY617560C4479653OMIM123319321605955
HP:0001332HP:0031960Arm dystonia2NKX6-2 CL E G H84504617560SPASTIC ATAXIA 8, AUTOSOMAL RECESSIVE, WITH HYPOMYELINATING LEUKODYSTROPHY617560C4479653OMIM123319321605955
HP:0001332HP:0031959Leg dystonia2NKX6-2 CL E G H84504617560SPASTIC ATAXIA 8, AUTOSOMAL RECESSIVE, WITH HYPOMYELINATING LEUKODYSTROPHY617560C4479653OMIM123319321605955
HP:0001332HP:0012049Laryngeal dystonia2NPC1 CL E G H4864257220Niemann-Pick disease type C1257220C3179455OMIM121097897607623
HP:0001332HP:0012179Craniofacial dystonia2NPC1 CL E G H4864257220Niemann-Pick disease type C1257220C3179455OMIM121097897607623
HP:0001332HP:0002356Writer's cramp2NPC1 CL E G H4864257220Niemann-Pick disease type C1257220C3179455OMIM121097897607623
HP:0001332HP:0031960Arm dystonia2NPC1 CL E G H4864257220Niemann-Pick disease type C1257220C3179455OMIM121097897607623
HP:0001332HP:0031959Leg dystonia2NPC1 CL E G H4864257220Niemann-Pick disease type C1257220C3179455OMIM121097897607623
HP:0001332HP:0012049Laryngeal dystonia2NPC2 CL E G H10577607625Niemann-Pick disease type C2607625C1843366OMIM123214537601015
HP:0001332HP:0012179Craniofacial dystonia2NPC2 CL E G H10577607625Niemann-Pick disease type C2607625C1843366OMIM123214537601015
HP:0001332HP:0002356Writer's cramp2NPC2 CL E G H10577607625Niemann-Pick disease type C2607625C1843366OMIM123214537601015
HP:0001332HP:0031960Arm dystonia2NPC2 CL E G H10577607625Niemann-Pick disease type C2607625C1843366OMIM123214537601015
HP:0001332HP:0031959Leg dystonia2NPC2 CL E G H10577607625Niemann-Pick disease type C2607625C1843366OMIM123214537601015
HP:0001332HP:0012049Laryngeal dystonia2NR4A2 CL E G H4929168600Parkinson disease, late-onset168600C3160718OMIM11437981601828
HP:0001332HP:0012179Craniofacial dystonia2NR4A2 CL E G H4929168600Parkinson disease, late-onset168600C3160718OMIM11437981601828
HP:0001332HP:0002356Writer's cramp2NR4A2 CL E G H4929168600Parkinson disease, late-onset168600C3160718OMIM11437981601828
HP:0001332HP:0031960Arm dystonia2NR4A2 CL E G H4929168600Parkinson disease, late-onset168600C3160718OMIM11437981601828
HP:0001332HP:0031959Leg dystonia2NR4A2 CL E G H4929168600Parkinson disease, late-onset168600C3160718OMIM11437981601828
HP:0001332HP:0012049Laryngeal dystonia2NUP62 CL E G H23636225154ORPHA11618066605815
HP:0001332HP:0012179Craniofacial dystonia2NUP62 CL E G H23636225154ORPHA11618066605815
HP:0001332HP:0002356Writer's cramp2NUP62 CL E G H23636225154ORPHA11618066605815
HP:0001332HP:0031960Arm dystonia2NUP62 CL E G H23636225154ORPHA11618066605815
HP:0001332HP:0031959Leg dystonia2NUP62 CL E G H23636225154ORPHA11618066605815
HP:0001332HP:0012049Laryngeal dystonia2NUP62 CL E G H23636271930Striatonigral degeneration infantile271930C0795996OMIM11618066605815
HP:0001332HP:0012179Craniofacial dystonia2NUP62 CL E G H23636271930Striatonigral degeneration infantile271930C0795996OMIM11618066605815
HP:0001332HP:0002356Writer's cramp2NUP62 CL E G H23636271930Striatonigral degeneration infantile271930C0795996OMIM11618066605815
HP:0001332HP:0031960Arm dystonia2NUP62 CL E G H23636271930Striatonigral degeneration infantile271930C0795996OMIM11618066605815
HP:0001332HP:0031959Leg dystonia2NUP62 CL E G H23636271930Striatonigral degeneration infantile271930C0795996OMIM11618066605815
HP:0001332HP:0012049Laryngeal dystonia2PANK2 CL E G H80025607236Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration607236C1846582OMIM149915894606157
HP:0001332HP:0012179Craniofacial dystonia2PANK2 CL E G H80025607236Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration607236C1846582OMIM149915894606157
HP:0001332HP:0002356Writer's cramp2PANK2 CL E G H80025607236Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration607236C1846582OMIM149915894606157
HP:0001332HP:0031960Arm dystonia2PANK2 CL E G H80025607236Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration607236C1846582OMIM149915894606157
HP:0001332HP:0031959Leg dystonia2PANK2 CL E G H80025607236Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration607236C1846582OMIM149915894606157
HP:0001332HP:0012049Laryngeal dystonia2PCCA CL E G H5095606054Propionyl-CoA carboxylase deficiency606054C0268579OMIM111898653232000
HP:0001332HP:0012179Craniofacial dystonia2PCCA CL E G H5095606054Propionyl-CoA carboxylase deficiency606054C0268579OMIM111898653232000
HP:0001332HP:0002356Writer's cramp2PCCA CL E G H5095606054Propionyl-CoA carboxylase deficiency606054C0268579OMIM111898653232000
HP:0001332HP:0031960Arm dystonia2PCCA CL E G H5095606054Propionyl-CoA carboxylase deficiency606054C0268579OMIM111898653232000
HP:0001332HP:0031959Leg dystonia2PCCA CL E G H5095606054Propionyl-CoA carboxylase deficiency606054C0268579OMIM111898653232000
HP:0001332HP:0012049Laryngeal dystonia2PCCB CL E G H5096606054Propionyl-CoA carboxylase deficiency606054C0268579OMIM19718654232050
HP:0001332HP:0012179Craniofacial dystonia2PCCB CL E G H5096606054Propionyl-CoA carboxylase deficiency606054C0268579OMIM19718654232050
HP:0001332HP:0002356Writer's cramp2PCCB CL E G H5096606054Propionyl-CoA carboxylase deficiency606054C0268579OMIM19718654232050
HP:0001332HP:0031960Arm dystonia2PCCB CL E G H5096606054Propionyl-CoA carboxylase deficiency606054C0268579OMIM19718654232050
HP:0001332HP:0031959Leg dystonia2PCCB CL E G H5096606054Propionyl-CoA carboxylase deficiency606054C0268579OMIM19718654232050
HP:0001332HP:0012049Laryngeal dystonia2PCDH12 CL E G H51294251280Microcephaly with spastic quadriplegia251280C1855055OMIM13738657605622
HP:0001332HP:0012179Craniofacial dystonia2PCDH12 CL E G H51294251280Microcephaly with spastic quadriplegia251280C1855055OMIM13738657605622
HP:0001332HP:0002356Writer's cramp2PCDH12 CL E G H51294251280Microcephaly with spastic quadriplegia251280C1855055OMIM13738657605622
HP:0001332HP:0031960Arm dystonia2PCDH12 CL E G H51294251280Microcephaly with spastic quadriplegia251280C1855055OMIM13738657605622
HP:0001332HP:0031959Leg dystonia2PCDH12 CL E G H51294251280Microcephaly with spastic quadriplegia251280C1855055OMIM13738657605622
HP:0001332HP:0012049Laryngeal dystonia2PDGFB CL E G H5155213600Idiopathic basal ganglia calcification 1213600C0393590OMIM11518800190040
HP:0001332HP:0012179Craniofacial dystonia2PDGFB CL E G H5155213600Idiopathic basal ganglia calcification 1213600C0393590OMIM11518800190040
HP:0001332HP:0002356Writer's cramp2PDGFB CL E G H5155213600Idiopathic basal ganglia calcification 1213600C0393590OMIM11518800190040
HP:0001332HP:0031960Arm dystonia2PDGFB CL E G H5155213600Idiopathic basal ganglia calcification 1213600C0393590OMIM11518800190040
HP:0001332HP:0031959Leg dystonia2PDGFB CL E G H5155213600Idiopathic basal ganglia calcification 1213600C0393590OMIM11518800190040
HP:0001332HP:0012049Laryngeal dystonia2PDGFRB CL E G H5159213600Idiopathic basal ganglia calcification 1213600C0393590OMIM15318804173410
HP:0001332HP:0012179Craniofacial dystonia2PDGFRB CL E G H5159213600Idiopathic basal ganglia calcification 1213600C0393590OMIM15318804173410
HP:0001332HP:0002356Writer's cramp2PDGFRB CL E G H5159213600Idiopathic basal ganglia calcification 1213600C0393590OMIM15318804173410
HP:0001332HP:0031960Arm dystonia2PDGFRB CL E G H5159213600Idiopathic basal ganglia calcification 1213600C0393590OMIM15318804173410
HP:0001332HP:0031959Leg dystonia2PDGFRB CL E G H5159213600Idiopathic basal ganglia calcification 1213600C0393590OMIM15318804173410
HP:0001332HP:0012049Laryngeal dystonia2PDHA1 CL E G H5160255241ORPHA16798806300502
HP:0001332HP:0012179Craniofacial dystonia2PDHA1 CL E G H5160255241ORPHA16798806300502
HP:0001332HP:0002356Writer's cramp2PDHA1 CL E G H5160255241ORPHA16798806300502
HP:0001332HP:0031960Arm dystonia2PDHA1 CL E G H5160255241ORPHA16798806300502
HP:0001332HP:0031959Leg dystonia2PDHA1 CL E G H5160255241ORPHA16798806300502
HP:0001332HP:0012049Laryngeal dystonia2PDHA1 CL E G H5160312170Pyruvate dehydrogenase E1-alpha deficiency312170C1839413OMIM16798806300502
HP:0001332HP:0012179Craniofacial dystonia2PDHA1 CL E G H5160312170Pyruvate dehydrogenase E1-alpha deficiency312170C1839413OMIM16798806300502
HP:0001332HP:0002356Writer's cramp2PDHA1 CL E G H5160312170Pyruvate dehydrogenase E1-alpha deficiency312170C1839413OMIM16798806300502
HP:0001332HP:0031960Arm dystonia2PDHA1 CL E G H5160312170Pyruvate dehydrogenase E1-alpha deficiency312170C1839413OMIM16798806300502
HP:0001332HP:0031959Leg dystonia2PDHA1 CL E G H5160312170Pyruvate dehydrogenase E1-alpha deficiency312170C1839413OMIM16798806300502
HP:0001332HP:0012049Laryngeal dystonia2PDHX CL E G H8050245349Pyruvate dehydrogenase E3-binding protein deficiency245349C1855553OMIM137221350608769
HP:0001332HP:0012179Craniofacial dystonia2PDHX CL E G H8050245349Pyruvate dehydrogenase E3-binding protein deficiency245349C1855553OMIM137221350608769
HP:0001332HP:0002356Writer's cramp2PDHX CL E G H8050245349Pyruvate dehydrogenase E3-binding protein deficiency245349C1855553OMIM137221350608769
HP:0001332HP:0031960Arm dystonia2PDHX CL E G H8050245349Pyruvate dehydrogenase E3-binding protein deficiency245349C1855553OMIM137221350608769
HP:0001332HP:0031959Leg dystonia2PDHX CL E G H8050245349Pyruvate dehydrogenase E3-binding protein deficiency245349C1855553OMIM137221350608769
HP:0001332HP:0012049Laryngeal dystonia2PET100 CL E G H100131801255241ORPHA17640038614770
HP:0001332HP:0012179Craniofacial dystonia2PET100 CL E G H100131801255241ORPHA17640038614770
HP:0001332HP:0002356Writer's cramp2PET100 CL E G H100131801255241ORPHA17640038614770
HP:0001332HP:0031960Arm dystonia2PET100 CL E G H100131801255241ORPHA17640038614770
HP:0001332HP:0031959Leg dystonia2PET100 CL E G H100131801255241ORPHA17640038614770
HP:0001332HP:0012049Laryngeal dystonia2PINK1 CL E G H65018605909Parkinson disease 6, autosomal recessive early-onset605909C1853833OMIM138414581608309
HP:0001332HP:0012179Craniofacial dystonia2PINK1 CL E G H65018605909Parkinson disease 6, autosomal recessive early-onset605909C1853833OMIM138414581608309
HP:0001332HP:0002356Writer's cramp2PINK1 CL E G H65018605909Parkinson disease 6, autosomal recessive early-onset605909C1853833OMIM138414581608309
HP:0001332HP:0031960Arm dystonia2PINK1 CL E G H65018605909Parkinson disease 6, autosomal recessive early-onset605909C1853833OMIM138414581608309
HP:0001332HP:0031959Leg dystonia2PINK1 CL E G H65018605909Parkinson disease 6, autosomal recessive early-onset605909C1853833OMIM138414581608309
HP:0001332HP:0012049Laryngeal dystonia2PLA2G6 CL E G H8398610217Neurodegeneration with brain iron accumulation 2b610217C1857747OMIM17759039603604
HP:0001332HP:0012179Craniofacial dystonia2PLA2G6 CL E G H8398610217Neurodegeneration with brain iron accumulation 2b610217C1857747OMIM17759039603604
HP:0001332HP:0002356Writer's cramp2PLA2G6 CL E G H8398610217Neurodegeneration with brain iron accumulation 2b610217C1857747OMIM17759039603604
HP:0001332HP:0031960Arm dystonia2PLA2G6 CL E G H8398610217Neurodegeneration with brain iron accumulation 2b610217C1857747OMIM17759039603604
HP:0001332HP:0031959Leg dystonia2PLA2G6 CL E G H8398610217Neurodegeneration with brain iron accumulation 2b610217C1857747OMIM17759039603604
HP:0001332HP:0012049Laryngeal dystonia2PLA2G6 CL E G H8398612953Parkinson disease 14612953C2751842OMIM17759039603604
HP:0001332HP:0012179Craniofacial dystonia2PLA2G6 CL E G H8398612953Parkinson disease 14612953C2751842OMIM17759039603604
HP:0001332HP:0002356Writer's cramp2PLA2G6 CL E G H8398612953Parkinson disease 14612953C2751842OMIM17759039603604
HP:0001332HP:0031960Arm dystonia2PLA2G6 CL E G H8398612953Parkinson disease 14612953C2751842OMIM17759039603604
HP:0001332HP:0031959Leg dystonia2PLA2G6 CL E G H8398612953Parkinson disease 14612953C2751842OMIM17759039603604
HP:0001332HP:0012049Laryngeal dystonia2PLAA CL E G H9373521426ORPHA15059043603873
HP:0001332HP:0012179Craniofacial dystonia2PLAA CL E G H9373521426ORPHA15059043603873
HP:0001332HP:0002356Writer's cramp2PLAA CL E G H9373521426ORPHA15059043603873
HP:0001332HP:0031960Arm dystonia2PLAA CL E G H9373521426ORPHA15059043603873
HP:0001332HP:0031959Leg dystonia2PLAA CL E G H9373521426ORPHA15059043603873
HP:0001332HP:0012049Laryngeal dystonia2PLP1 CL E G H5354312080Pelizaeus-Merzbacher disease312080C0205711OMIM14519086300401
HP:0001332HP:0012179Craniofacial dystonia2PLP1 CL E G H5354312080Pelizaeus-Merzbacher disease312080C0205711OMIM14519086300401
HP:0001332HP:0002356Writer's cramp2PLP1 CL E G H5354312080Pelizaeus-Merzbacher disease312080C0205711OMIM14519086300401
HP:0001332HP:0031960Arm dystonia2PLP1 CL E G H5354312080Pelizaeus-Merzbacher disease312080C0205711OMIM14519086300401
HP:0001332HP:0031959Leg dystonia2PLP1 CL E G H5354312080Pelizaeus-Merzbacher disease312080C0205711OMIM14519086300401
HP:0001332HP:0012049Laryngeal dystonia2PMPCB CL E G H9512617954MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 6617954CN244567OMIM11339119603131
HP:0001332HP:0012179Craniofacial dystonia2PMPCB CL E G H9512617954MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 6617954CN244567OMIM11339119603131
HP:0001332HP:0002356Writer's cramp2PMPCB CL E G H9512617954MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 6617954CN244567OMIM11339119603131
HP:0001332HP:0031960Arm dystonia2PMPCB CL E G H9512617954MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 6617954CN244567OMIM11339119603131
HP:0001332HP:0031959Leg dystonia2PMPCB CL E G H9512617954MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 6617954CN244567OMIM11339119603131
HP:0001332HP:0012049Laryngeal dystonia2PNKP CL E G H11284616267Ataxia-oculomotor apraxia 4616267C4225397OMIM110289154605610
HP:0001332HP:0012179Craniofacial dystonia2PNKP CL E G H11284616267Ataxia-oculomotor apraxia 4616267C4225397OMIM110289154605610
HP:0001332HP:0002356Writer's cramp2PNKP CL E G H11284616267Ataxia-oculomotor apraxia 4616267C4225397OMIM110289154605610
HP:0001332HP:0031960Arm dystonia2PNKP CL E G H11284616267Ataxia-oculomotor apraxia 4616267C4225397OMIM110289154605610
HP:0001332HP:0031959Leg dystonia2PNKP CL E G H11284616267Ataxia-oculomotor apraxia 4616267C4225397OMIM110289154605610
HP:0001332HP:0012049Laryngeal dystonia2PNPLA8 CL E G H50640251950Mitochondrial myopathy with lactic acidosis251950C1855033OMIM127128900612123
HP:0001332HP:0012179Craniofacial dystonia2PNPLA8 CL E G H50640251950Mitochondrial myopathy with lactic acidosis251950C1855033OMIM127128900612123
HP:0001332HP:0002356Writer's cramp2PNPLA8 CL E G H50640251950Mitochondrial myopathy with lactic acidosis251950C1855033OMIM127128900612123
HP:0001332HP:0031960Arm dystonia2PNPLA8 CL E G H50640251950Mitochondrial myopathy with lactic acidosis251950C1855033OMIM127128900612123
HP:0001332HP:0031959Leg dystonia2PNPLA8 CL E G H50640251950Mitochondrial myopathy with lactic acidosis251950C1855033OMIM127128900612123
HP:0001332HP:0012049Laryngeal dystonia2PNPT1 CL E G H87178614932Combined oxidative phosphorylation deficiency 13614932C3554129OMIM176123166610316
HP:0001332HP:0012179Craniofacial dystonia2PNPT1 CL E G H87178614932Combined oxidative phosphorylation deficiency 13614932C3554129OMIM176123166610316
HP:0001332HP:0002356Writer's cramp2PNPT1 CL E G H87178614932Combined oxidative phosphorylation deficiency 13614932C3554129OMIM176123166610316
HP:0001332HP:0031960Arm dystonia2PNPT1 CL E G H87178614932Combined oxidative phosphorylation deficiency 13614932C3554129OMIM176123166610316
HP:0001332HP:0031959Leg dystonia2PNPT1 CL E G H87178614932Combined oxidative phosphorylation deficiency 13614932C3554129OMIM176123166610316
HP:0001332HP:0012049Laryngeal dystonia2PODXL CL E G H5420391411ORPHA12009171602632
HP:0001332HP:0012179Craniofacial dystonia2PODXL CL E G H5420391411ORPHA12009171602632
HP:0001332HP:0002356Writer's cramp2PODXL CL E G H5420391411ORPHA12009171602632
HP:0001332HP:0031960Arm dystonia2PODXL CL E G H5420391411ORPHA12009171602632
HP:0001332HP:0031959Leg dystonia2PODXL CL E G H5420391411ORPHA12009171602632
HP:0001332HP:0012049Laryngeal dystonia2POLR3A CL E G H11128447896ORPHA1102530074614258
HP:0001332HP:0012179Craniofacial dystonia2POLR3A CL E G H11128447896ORPHA1102530074614258
HP:0001332HP:0002356Writer's cramp2POLR3A CL E G H11128447896ORPHA1102530074614258
HP:0001332HP:0031960Arm dystonia2POLR3A CL E G H11128447896ORPHA1102530074614258
HP:0001332HP:0031959Leg dystonia2POLR3A CL E G H11128447896ORPHA1102530074614258
HP:0001332HP:0012049Laryngeal dystonia2POLR3A CL E G H11128607694Hypomyelinating leukodystrophy 7607694C2676243OMIM1102530074614258
HP:0001332HP:0012179Craniofacial dystonia2POLR3A CL E G H11128607694Hypomyelinating leukodystrophy 7607694C2676243OMIM1102530074614258
HP:0001332HP:0002356Writer's cramp2POLR3A CL E G H11128607694Hypomyelinating leukodystrophy 7607694C2676243OMIM1102530074614258
HP:0001332HP:0031960Arm dystonia2POLR3A CL E G H11128607694Hypomyelinating leukodystrophy 7607694C2676243OMIM1102530074614258
HP:0001332HP:0031959Leg dystonia2POLR3A CL E G H11128607694Hypomyelinating leukodystrophy 7607694C2676243OMIM1102530074614258
HP:0001332HP:0012049Laryngeal dystonia2POLR3B CL E G H55703607694Hypomyelinating leukodystrophy 7607694C2676243OMIM151030348614366
HP:0001332HP:0012179Craniofacial dystonia2POLR3B CL E G H55703607694Hypomyelinating leukodystrophy 7607694C2676243OMIM151030348614366
HP:0001332HP:0002356Writer's cramp2POLR3B CL E G H55703607694Hypomyelinating leukodystrophy 7607694C2676243OMIM151030348614366
HP:0001332HP:0031960Arm dystonia2POLR3B CL E G H55703607694Hypomyelinating leukodystrophy 7607694C2676243OMIM151030348614366
HP:0001332HP:0031959Leg dystonia2POLR3B CL E G H55703607694Hypomyelinating leukodystrophy 7607694C2676243OMIM151030348614366
HP:0001332HP:0012049Laryngeal dystonia2PRKN CL E G H5071600116Parkinson disease 2600116C1868675OMIM17058607602544
HP:0001332HP:0012179Craniofacial dystonia2PRKN CL E G H5071600116Parkinson disease 2600116C1868675OMIM17058607602544
HP:0001332HP:0002356Writer's cramp2PRKN CL E G H5071600116Parkinson disease 2600116C1868675OMIM17058607602544
HP:0001332HP:0031960Arm dystonia2PRKN CL E G H5071600116Parkinson disease 2600116C1868675OMIM17058607602544
HP:0001332HP:0031959Leg dystonia2PRKN CL E G H5071600116Parkinson disease 2600116C1868675OMIM17058607602544
HP:0001332HP:0012049Laryngeal dystonia2PSAP CL E G H5660139406ORPHA17729498176801
HP:0001332HP:0012179Craniofacial dystonia2PSAP CL E G H5660139406ORPHA17729498176801
HP:0001332HP:0002356Writer's cramp2PSAP CL E G H5660139406ORPHA17729498176801
HP:0001332HP:0031960Arm dystonia2PSAP CL E G H5660139406ORPHA17729498176801
HP:0001332HP:0031959Leg dystonia2PSAP CL E G H5660139406ORPHA17729498176801
HP:0001332HP:0012049Laryngeal dystonia2PSAP CL E G H5660309256ORPHA17729498176801
HP:0001332HP:0012179Craniofacial dystonia2PSAP CL E G H5660309256ORPHA17729498176801
HP:0001332HP:0002356Writer's cramp2PSAP CL E G H5660309256ORPHA17729498176801
HP:0001332HP:0031960Arm dystonia2PSAP CL E G H5660309256ORPHA17729498176801
HP:0001332HP:0031959Leg dystonia2PSAP CL E G H5660309256ORPHA17729498176801
HP:0001332HP:0012049Laryngeal dystonia2PSAP CL E G H5660309263ORPHA17729498176801
HP:0001332HP:0012179Craniofacial dystonia2PSAP CL E G H5660309263ORPHA17729498176801
HP:0001332HP:0002356Writer's cramp2PSAP CL E G H5660309263ORPHA17729498176801
HP:0001332HP:0031960Arm dystonia2PSAP CL E G H5660309263ORPHA17729498176801
HP:0001332HP:0031959Leg dystonia2PSAP CL E G H5660309263ORPHA17729498176801
HP:0001332HP:0012049Laryngeal dystonia2PSAP CL E G H5660309271ORPHA17729498176801
HP:0001332HP:0012179Craniofacial dystonia2PSAP CL E G H5660309271ORPHA17729498176801
HP:0001332HP:0002356Writer's cramp2PSAP CL E G H5660309271ORPHA17729498176801
HP:0001332HP:0031960Arm dystonia2PSAP CL E G H5660309271ORPHA17729498176801
HP:0001332HP:0031959Leg dystonia2PSAP CL E G H5660309271ORPHA17729498176801
HP:0001332HP:0012049Laryngeal dystonia2PSEN1 CL E G H5663607822Alzheimer disease, type 3607822C1843013OMIM15019508104311
HP:0001332HP:0012179Craniofacial dystonia2PSEN1 CL E G H5663607822Alzheimer disease, type 3607822C1843013OMIM15019508104311
HP:0001332HP:0002356Writer's cramp2PSEN1 CL E G H5663607822Alzheimer disease, type 3607822C1843013OMIM15019508104311
HP:0001332HP:0031960Arm dystonia2PSEN1 CL E G H5663607822Alzheimer disease, type 3607822C1843013OMIM15019508104311
HP:0001332HP:0031959Leg dystonia2PSEN1 CL E G H5663607822Alzheimer disease, type 3607822C1843013OMIM15019508104311
HP:0001332HP:0012049Laryngeal dystonia2PTS CL E G H58052616406-pyruvoyl-tetrahydropterin synthase deficiency261640C0878676OMIM12639689612719
HP:0001332HP:0012179Craniofacial dystonia2PTS CL E G H58052616406-pyruvoyl-tetrahydropterin synthase deficiency261640C0878676OMIM12639689612719
HP:0001332HP:0002356Writer's cramp2PTS CL E G H58052616406-pyruvoyl-tetrahydropterin synthase deficiency261640C0878676OMIM12639689612719
HP:0001332HP:0031960Arm dystonia2PTS CL E G H58052616406-pyruvoyl-tetrahydropterin synthase deficiency261640C0878676OMIM12639689612719
HP:0001332HP:0031959Leg dystonia2PTS CL E G H58052616406-pyruvoyl-tetrahydropterin synthase deficiency261640C0878676OMIM12639689612719
HP:0001332HP:0012049Laryngeal dystonia2QDPR CL E G H5860261630Dihydropteridine reductase deficiency261630C0268465OMIM13199752612676
HP:0001332HP:0012179Craniofacial dystonia2QDPR CL E G H5860261630Dihydropteridine reductase deficiency261630C0268465OMIM13199752612676
HP:0001332HP:0002356Writer's cramp2QDPR CL E G H5860261630Dihydropteridine reductase deficiency261630C0268465OMIM13199752612676
HP:0001332HP:0031960Arm dystonia2QDPR CL E G H5860261630Dihydropteridine reductase deficiency261630C0268465OMIM13199752612676
HP:0001332HP:0031959Leg dystonia2QDPR CL E G H5860261630Dihydropteridine reductase deficiency261630C0268465OMIM13199752612676
HP:0001332HP:0012049Laryngeal dystonia2RAB11B CL E G H9230617807NEURODEVELOPMENTAL DISORDER WITH ATAXIC GAIT, ABSENT SPEECH, AND DECREASED CORTICAL WHITE MATTER617807C4540498OMIM11619761604198
HP:0001332HP:0012179Craniofacial dystonia2RAB11B CL E G H9230617807NEURODEVELOPMENTAL DISORDER WITH ATAXIC GAIT, ABSENT SPEECH, AND DECREASED CORTICAL WHITE MATTER617807C4540498OMIM11619761604198
HP:0001332HP:0002356Writer's cramp2RAB11B CL E G H9230617807NEURODEVELOPMENTAL DISORDER WITH ATAXIC GAIT, ABSENT SPEECH, AND DECREASED CORTICAL WHITE MATTER617807C4540498OMIM11619761604198
HP:0001332HP:0031960Arm dystonia2RAB11B CL E G H9230617807NEURODEVELOPMENTAL DISORDER WITH ATAXIC GAIT, ABSENT SPEECH, AND DECREASED CORTICAL WHITE MATTER617807C4540498OMIM11619761604198
HP:0001332HP:0031959Leg dystonia2RAB11B CL E G H9230617807NEURODEVELOPMENTAL DISORDER WITH ATAXIC GAIT, ABSENT SPEECH, AND DECREASED CORTICAL WHITE MATTER617807C4540498OMIM11619761604198
HP:0001332HP:0012049Laryngeal dystonia2RARS CL E G H5917438114ORPHA19870107820
HP:0001332HP:0012179Craniofacial dystonia2RARS CL E G H5917438114ORPHA19870107820
HP:0001332HP:0002356Writer's cramp2RARS CL E G H5917438114ORPHA19870107820
HP:0001332HP:0031960Arm dystonia2RARS CL E G H5917438114ORPHA19870107820
HP:0001332HP:0031959Leg dystonia2RARS CL E G H5917438114ORPHA19870107820
HP:0001332HP:0012049Laryngeal dystonia2RHOBTB2 CL E G H23221618004EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 64618004CN248512OMIM159218756607352
HP:0001332HP:0012179Craniofacial dystonia2RHOBTB2 CL E G H23221618004EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 64618004CN248512OMIM159218756607352
HP:0001332HP:0002356Writer's cramp2RHOBTB2 CL E G H23221618004EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 64618004CN248512OMIM159218756607352
HP:0001332HP:0031960Arm dystonia2RHOBTB2 CL E G H23221618004EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 64618004CN248512OMIM159218756607352
HP:0001332HP:0031959Leg dystonia2RHOBTB2 CL E G H23221618004EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 64618004CN248512OMIM159218756607352
HP:0001332HP:0012049Laryngeal dystonia2RNASEH2A CL E G H1053551ORPHA140418518606034
HP:0001332HP:0012179Craniofacial dystonia2RNASEH2A CL E G H1053551ORPHA140418518606034
HP:0001332HP:0002356Writer's cramp2RNASEH2A CL E G H1053551ORPHA140418518606034
HP:0001332HP:0031960Arm dystonia2RNASEH2A CL E G H1053551ORPHA140418518606034
HP:0001332HP:0031959Leg dystonia2RNASEH2A CL E G H1053551ORPHA140418518606034
HP:0001332HP:0012049Laryngeal dystonia2RNASEH2A CL E G H10535610333Aicardi Goutieres syndrome 4610333C1835912OMIM140418518606034
HP:0001332HP:0012179Craniofacial dystonia2RNASEH2A CL E G H10535610333Aicardi Goutieres syndrome 4610333C1835912OMIM140418518606034
HP:0001332HP:0002356Writer's cramp2RNASEH2A CL E G H10535610333Aicardi Goutieres syndrome 4610333C1835912OMIM140418518606034
HP:0001332HP:0031960Arm dystonia2RNASEH2A CL E G H10535610333Aicardi Goutieres syndrome 4610333C1835912OMIM140418518606034
HP:0001332HP:0031959Leg dystonia2RNASEH2A CL E G H10535610333Aicardi Goutieres syndrome 4610333C1835912OMIM140418518606034
HP:0001332HP:0012049Laryngeal dystonia2RNASEH2B CL E G H7962151ORPHA142625671610326
HP:0001332HP:0012179Craniofacial dystonia2RNASEH2B CL E G H7962151ORPHA142625671610326
HP:0001332HP:0002356Writer's cramp2RNASEH2B CL E G H7962151ORPHA142625671610326
HP:0001332HP:0031960Arm dystonia2RNASEH2B CL E G H7962151ORPHA142625671610326
HP:0001332HP:0031959Leg dystonia2RNASEH2B CL E G H7962151ORPHA142625671610326
HP:0001332HP:0012049Laryngeal dystonia2RNASEH2C CL E G H8415351ORPHA130724116610330
HP:0001332HP:0012179Craniofacial dystonia2RNASEH2C CL E G H8415351ORPHA130724116610330
HP:0001332HP:0002356Writer's cramp2RNASEH2C CL E G H8415351ORPHA130724116610330
HP:0001332HP:0031960Arm dystonia2RNASEH2C CL E G H8415351ORPHA130724116610330
HP:0001332HP:0031959Leg dystonia2RNASEH2C CL E G H8415351ORPHA130724116610330
HP:0001332HP:0012049Laryngeal dystonia2RNASEH2C CL E G H84153610329Aicardi Goutieres syndrome 3610329C1835916OMIM130724116610330
HP:0001332HP:0012179Craniofacial dystonia2RNASEH2C CL E G H84153610329Aicardi Goutieres syndrome 3610329C1835916OMIM130724116610330
HP:0001332HP:0002356Writer's cramp2RNASEH2C CL E G H84153610329Aicardi Goutieres syndrome 3610329C1835916OMIM130724116610330
HP:0001332HP:0031960Arm dystonia2RNASEH2C CL E G H84153610329Aicardi Goutieres syndrome 3610329C1835916OMIM130724116610330
HP:0001332HP:0031959Leg dystonia2RNASEH2C CL E G H84153610329Aicardi Goutieres syndrome 3610329C1835916OMIM130724116610330
HP:0001332HP:0012049Laryngeal dystonia2SAMHD1 CL E G H2593951ORPHA174615925606754
HP:0001332HP:0012179Craniofacial dystonia2SAMHD1 CL E G H2593951ORPHA174615925606754
HP:0001332HP:0002356Writer's cramp2SAMHD1 CL E G H2593951ORPHA174615925606754
HP:0001332HP:0031960Arm dystonia2SAMHD1 CL E G H2593951ORPHA174615925606754
HP:0001332HP:0031959Leg dystonia2SAMHD1 CL E G H2593951ORPHA174615925606754
HP:0001332HP:0012049Laryngeal dystonia2SDHA CL E G H6389255241ORPHA1250310680600857
HP:0001332HP:0012179Craniofacial dystonia2SDHA CL E G H6389255241ORPHA1250310680600857
HP:0001332HP:0002356Writer's cramp2SDHA CL E G H6389255241ORPHA1250310680600857
HP:0001332HP:0031960Arm dystonia2SDHA CL E G H6389255241ORPHA1250310680600857
HP:0001332HP:0031959Leg dystonia2SDHA CL E G H6389255241ORPHA1250310680600857
HP:0001332HP:0012049Laryngeal dystonia2SDHA CL E G H6389256000Leigh syndrome256000C0023264OMIM1250310680600857
HP:0001332HP:0012179Craniofacial dystonia2SDHA CL E G H6389256000Leigh syndrome256000C0023264OMIM1250310680600857
HP:0001332HP:0002356Writer's cramp2SDHA CL E G H6389256000Leigh syndrome256000C0023264OMIM1250310680600857
HP:0001332HP:0031960Arm dystonia2SDHA CL E G H6389256000Leigh syndrome256000C0023264OMIM1250310680600857
HP:0001332HP:0031959Leg dystonia2SDHA CL E G H6389256000Leigh syndrome256000C0023264OMIM1250310680600857
HP:0001332HP:0012049Laryngeal dystonia2SDHA CL E G H6389252011Mitochondrial complex II deficiency252011C1855008OMIM1250310680600857
HP:0001332HP:0012179Craniofacial dystonia2SDHA CL E G H6389252011Mitochondrial complex II deficiency252011C1855008OMIM1250310680600857
HP:0001332HP:0002356Writer's cramp2SDHA CL E G H6389252011Mitochondrial complex II deficiency252011C1855008OMIM1250310680600857
HP:0001332HP:0031960Arm dystonia2SDHA CL E G H6389252011Mitochondrial complex II deficiency252011C1855008OMIM1250310680600857
HP:0001332HP:0031959Leg dystonia2SDHA CL E G H6389252011Mitochondrial complex II deficiency252011C1855008OMIM1250310680600857
HP:0001332HP:0012049Laryngeal dystonia2SDHAF1 CL E G H644096252011Mitochondrial complex II deficiency252011C1855008OMIM17733867612848
HP:0001332HP:0012179Craniofacial dystonia2SDHAF1 CL E G H644096252011Mitochondrial complex II deficiency252011C1855008OMIM17733867612848
HP:0001332HP:0002356Writer's cramp2SDHAF1 CL E G H644096252011Mitochondrial complex II deficiency252011C1855008OMIM17733867612848
HP:0001332HP:0031960Arm dystonia2SDHAF1 CL E G H644096252011Mitochondrial complex II deficiency252011C1855008OMIM17733867612848
HP:0001332HP:0031959Leg dystonia2SDHAF1 CL E G H644096252011Mitochondrial complex II deficiency252011C1855008OMIM17733867612848
HP:0001332HP:0012049Laryngeal dystonia2SDHD CL E G H6392252011Mitochondrial complex II deficiency252011C1855008OMIM168610683602690
HP:0001332HP:0012179Craniofacial dystonia2SDHD CL E G H6392252011Mitochondrial complex II deficiency252011C1855008OMIM168610683602690
HP:0001332HP:0002356Writer's cramp2SDHD CL E G H6392252011Mitochondrial complex II deficiency252011C1855008OMIM168610683602690
HP:0001332HP:0031960Arm dystonia2SDHD CL E G H6392252011Mitochondrial complex II deficiency252011C1855008OMIM168610683602690
HP:0001332HP:0031959Leg dystonia2SDHD CL E G H6392252011Mitochondrial complex II deficiency252011C1855008OMIM168610683602690
HP:0001332HP:0012049Laryngeal dystonia2SERAC1 CL E G H849476147393-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome614739C3553597OMIM140021061614725
HP:0001332HP:0012179Craniofacial dystonia2SERAC1 CL E G H849476147393-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome614739C3553597OMIM140021061614725
HP:0001332HP:0002356Writer's cramp2SERAC1 CL E G H849476147393-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome614739C3553597OMIM140021061614725
HP:0001332HP:0031960Arm dystonia2SERAC1 CL E G H849476147393-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome614739C3553597OMIM140021061614725
HP:0001332HP:0031959Leg dystonia2SERAC1 CL E G H849476147393-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome614739C3553597OMIM140021061614725
HP:0001332HP:0012049Laryngeal dystonia2SLC19A3 CL E G H80704255241ORPHA156316266606152
HP:0001332HP:0012179Craniofacial dystonia2SLC19A3 CL E G H80704255241ORPHA156316266606152
HP:0001332HP:0002356Writer's cramp2SLC19A3 CL E G H80704255241ORPHA156316266606152
HP:0001332HP:0031960Arm dystonia2SLC19A3 CL E G H80704255241ORPHA156316266606152
HP:0001332HP:0031959Leg dystonia2SLC19A3 CL E G H80704255241ORPHA156316266606152
HP:0001332HP:0012049Laryngeal dystonia2SLC19A3 CL E G H80704607483Basal ganglia disease, biotin-responsive607483C1843807OMIM156316266606152
HP:0001332HP:0012179Craniofacial dystonia2SLC19A3 CL E G H80704607483Basal ganglia disease, biotin-responsive607483C1843807OMIM156316266606152
HP:0001332HP:0002356Writer's cramp2SLC19A3 CL E G H80704607483Basal ganglia disease, biotin-responsive607483C1843807OMIM156316266606152
HP:0001332HP:0031960Arm dystonia2SLC19A3 CL E G H80704607483Basal ganglia disease, biotin-responsive607483C1843807OMIM156316266606152
HP:0001332HP:0031959Leg dystonia2SLC19A3 CL E G H80704607483Basal ganglia disease, biotin-responsive607483C1843807OMIM156316266606152
HP:0001332HP:0012049Laryngeal dystonia2SLC20A2 CL E G H6575213600Idiopathic basal ganglia calcification 1213600C0393590OMIM133710947158378
HP:0001332HP:0012179Craniofacial dystonia2SLC20A2 CL E G H6575213600Idiopathic basal ganglia calcification 1213600C0393590OMIM133710947158378
HP:0001332HP:0002356Writer's cramp2SLC20A2 CL E G H6575213600Idiopathic basal ganglia calcification 1213600C0393590OMIM133710947158378
HP:0001332HP:0031960Arm dystonia2SLC20A2 CL E G H6575213600Idiopathic basal ganglia calcification 1213600C0393590OMIM133710947158378
HP:0001332HP:0031959Leg dystonia2SLC20A2 CL E G H6575213600Idiopathic basal ganglia calcification 1213600C0393590OMIM133710947158378
HP:0001332HP:0012049Laryngeal dystonia2SLC2A1 CL E G H651353583ORPHA196511005138140
HP:0001332HP:0012179Craniofacial dystonia2SLC2A1 CL E G H651353583ORPHA196511005138140
HP:0001332HP:0002356Writer's cramp2SLC2A1 CL E G H651353583ORPHA196511005138140
HP:0001332HP:0031960Arm dystonia2SLC2A1 CL E G H651353583ORPHA196511005138140
HP:0001332HP:0031959Leg dystonia2SLC2A1 CL E G H651353583ORPHA196511005138140
HP:0001332HP:0012049Laryngeal dystonia2SLC2A1 CL E G H651371277ORPHA196511005138140
HP:0001332HP:0012179Craniofacial dystonia2SLC2A1 CL E G H651371277ORPHA196511005138140
HP:0001332HP:0002356Writer's cramp2SLC2A1 CL E G H651371277ORPHA196511005138140
HP:0001332HP:0031960Arm dystonia2SLC2A1 CL E G H651371277ORPHA196511005138140
HP:0001332HP:0031959Leg dystonia2SLC2A1 CL E G H651371277ORPHA196511005138140
HP:0001332HP:0012049Laryngeal dystonia2SLC2A1 CL E G H6513601042Dystonia 9601042C1832855OMIM196511005138140
HP:0001332HP:0012179Craniofacial dystonia2SLC2A1 CL E G H6513601042Dystonia 9601042C1832855OMIM196511005138140
HP:0001332HP:0002356Writer's cramp2SLC2A1 CL E G H6513601042Dystonia 9601042C1832855OMIM196511005138140
HP:0001332HP:0031960Arm dystonia2SLC2A1 CL E G H6513601042Dystonia 9601042C1832855OMIM196511005138140
HP:0001332HP:0031959Leg dystonia2SLC2A1 CL E G H6513601042Dystonia 9601042C1832855OMIM196511005138140
HP:0001332HP:0012049Laryngeal dystonia2SLC2A1 CL E G H6513612126GLUT1 deficiency syndrome 2612126C1842534OMIM196511005138140
HP:0001332HP:0012179Craniofacial dystonia2SLC2A1 CL E G H6513612126GLUT1 deficiency syndrome 2612126C1842534OMIM196511005138140
HP:0001332HP:0002356Writer's cramp2SLC2A1 CL E G H6513612126GLUT1 deficiency syndrome 2612126C1842534OMIM196511005138140
HP:0001332HP:0031960Arm dystonia2SLC2A1 CL E G H6513612126GLUT1 deficiency syndrome 2612126C1842534OMIM196511005138140
HP:0001332HP:0031959Leg dystonia2SLC2A1 CL E G H6513612126GLUT1 deficiency syndrome 2612126C1842534OMIM196511005138140
HP:0001332HP:0012049Laryngeal dystonia2SLC30A10 CL E G H55532309854ORPHA127525355611146
HP:0001332HP:0012179Craniofacial dystonia2SLC30A10 CL E G H55532309854ORPHA127525355611146
HP:0001332HP:0002356Writer's cramp2SLC30A10 CL E G H55532309854ORPHA127525355611146
HP:0001332HP:0031960Arm dystonia2SLC30A10 CL E G H55532309854ORPHA127525355611146
HP:0001332HP:0031959Leg dystonia2SLC30A10 CL E G H55532309854ORPHA127525355611146
HP:0001332HP:0012049Laryngeal dystonia2SLC30A10 CL E G H55532613280Hypermanganesemia with dystonia 1613280OMIM127525355611146
HP:0001332HP:0012179Craniofacial dystonia2SLC30A10 CL E G H55532613280Hypermanganesemia with dystonia 1613280OMIM127525355611146
HP:0001332HP:0002356Writer's cramp2SLC30A10 CL E G H55532613280Hypermanganesemia with dystonia 1613280OMIM127525355611146
HP:0001332HP:0031960Arm dystonia2SLC30A10 CL E G H55532613280Hypermanganesemia with dystonia 1613280OMIM127525355611146
HP:0001332HP:0031959Leg dystonia2SLC30A10 CL E G H55532613280Hypermanganesemia with dystonia 1613280OMIM127525355611146
HP:0001332HP:0012049Laryngeal dystonia2SLC30A9 CL E G H10463617595Birk-Landau-Perez syndrome617595C4539828OMIM1451329604604
HP:0001332HP:0012179Craniofacial dystonia2SLC30A9 CL E G H10463617595Birk-Landau-Perez syndrome617595C4539828OMIM1451329604604
HP:0001332HP:0002356Writer's cramp2SLC30A9 CL E G H10463617595Birk-Landau-Perez syndrome617595C4539828OMIM1451329604604
HP:0001332HP:0031960Arm dystonia2SLC30A9 CL E G H10463617595Birk-Landau-Perez syndrome617595C4539828OMIM1451329604604
HP:0001332HP:0031959Leg dystonia2SLC30A9 CL E G H10463617595Birk-Landau-Perez syndrome617595C4539828OMIM1451329604604
HP:0001332HP:0012049Laryngeal dystonia2SLC6A8 CL E G H653552503ORPHA1106211055300036
HP:0001332HP:0012179Craniofacial dystonia2SLC6A8 CL E G H653552503ORPHA1106211055300036
HP:0001332HP:0002356Writer's cramp2SLC6A8 CL E G H653552503ORPHA1106211055300036
HP:0001332HP:0031960Arm dystonia2SLC6A8 CL E G H653552503ORPHA1106211055300036
HP:0001332HP:0031959Leg dystonia2SLC6A8 CL E G H653552503ORPHA1106211055300036
HP:0001332HP:0012049Laryngeal dystonia2SLC6A8 CL E G H6535300352Creatine deficiency, X-linked300352C1845862OMIM1106211055300036
HP:0001332HP:0012179Craniofacial dystonia2SLC6A8 CL E G H6535300352Creatine deficiency, X-linked300352C1845862OMIM1106211055300036
HP:0001332HP:0002356Writer's cramp2SLC6A8 CL E G H6535300352Creatine deficiency, X-linked300352C1845862OMIM1106211055300036
HP:0001332HP:0031960Arm dystonia2SLC6A8 CL E G H6535300352Creatine deficiency, X-linked300352C1845862OMIM1106211055300036
HP:0001332HP:0031959Leg dystonia2SLC6A8 CL E G H6535300352Creatine deficiency, X-linked300352C1845862OMIM1106211055300036
HP:0001332HP:0012049Laryngeal dystonia2SLC9A6 CL E G H1047985278ORPHA161211079300231
HP:0001332HP:0012179Craniofacial dystonia2SLC9A6 CL E G H1047985278ORPHA161211079300231
HP:0001332HP:0002356Writer's cramp2SLC9A6 CL E G H1047985278ORPHA161211079300231
HP:0001332HP:0031960Arm dystonia2SLC9A6 CL E G H1047985278ORPHA161211079300231
HP:0001332HP:0031959Leg dystonia2SLC9A6 CL E G H1047985278ORPHA161211079300231
HP:0001332HP:0012049Laryngeal dystonia2SNCA CL E G H6622171695ORPHA119311138163890
HP:0001332HP:0012179Craniofacial dystonia2SNCA CL E G H6622171695ORPHA119311138163890
HP:0001332HP:0002356Writer's cramp2SNCA CL E G H6622171695ORPHA119311138163890
HP:0001332HP:0031960Arm dystonia2SNCA CL E G H6622171695ORPHA119311138163890
HP:0001332HP:0031959Leg dystonia2SNCA CL E G H6622171695ORPHA119311138163890
HP:0001332HP:0012049Laryngeal dystonia2SNCA CL E G H6622168601Parkinson disease 1168601C1868595OMIM119311138163890
HP:0001332HP:0012179Craniofacial dystonia2SNCA CL E G H6622168601Parkinson disease 1168601C1868595OMIM119311138163890
HP:0001332HP:0002356Writer's cramp2SNCA CL E G H6622168601Parkinson disease 1168601C1868595OMIM119311138163890
HP:0001332HP:0031960Arm dystonia2SNCA CL E G H6622168601Parkinson disease 1168601C1868595OMIM119311138163890
HP:0001332HP:0031959Leg dystonia2SNCA CL E G H6622168601Parkinson disease 1168601C1868595OMIM119311138163890
HP:0001332HP:0012049Laryngeal dystonia2SNCAIP CL E G H9627168600Parkinson disease, late-onset168600C3160718OMIM116011139603779
HP:0001332HP:0012179Craniofacial dystonia2SNCAIP CL E G H9627168600Parkinson disease, late-onset168600C3160718OMIM116011139603779
HP:0001332HP:0002356Writer's cramp2SNCAIP CL E G H9627168600Parkinson disease, late-onset168600C3160718OMIM116011139603779
HP:0001332HP:0031960Arm dystonia2SNCAIP CL E G H9627168600Parkinson disease, late-onset168600C3160718OMIM116011139603779
HP:0001332HP:0031959Leg dystonia2SNCAIP CL E G H9627168600Parkinson disease, late-onset168600C3160718OMIM116011139603779
HP:0001332HP:0012049Laryngeal dystonia2SNORD118 CL E G H727676614561Leukoencephalopathy, brain calcifications, and cysts614561C3281200OMIM118932952616663
HP:0001332HP:0012179Craniofacial dystonia2SNORD118 CL E G H727676614561Leukoencephalopathy, brain calcifications, and cysts614561C3281200OMIM118932952616663
HP:0001332HP:0002356Writer's cramp2SNORD118 CL E G H727676614561Leukoencephalopathy, brain calcifications, and cysts614561C3281200OMIM118932952616663
HP:0001332HP:0031960Arm dystonia2SNORD118 CL E G H727676614561Leukoencephalopathy, brain calcifications, and cysts614561C3281200OMIM118932952616663
HP:0001332HP:0031959Leg dystonia2SNORD118 CL E G H727676614561Leukoencephalopathy, brain calcifications, and cysts614561C3281200OMIM118932952616663
HP:0001332HP:0012049Laryngeal dystonia2SPR CL E G H6697612716Sepiapterin reductase deficiency612716C0268468OMIM119811257182125
HP:0001332HP:0012179Craniofacial dystonia2SPR CL E G H6697612716Sepiapterin reductase deficiency612716C0268468OMIM119811257182125
HP:0001332HP:0002356Writer's cramp2SPR CL E G H6697612716Sepiapterin reductase deficiency612716C0268468OMIM119811257182125
HP:0001332HP:0031960Arm dystonia2SPR CL E G H6697612716Sepiapterin reductase deficiency612716C0268468OMIM119811257182125
HP:0001332HP:0031959Leg dystonia2SPR CL E G H6697612716Sepiapterin reductase deficiency612716C0268468OMIM119811257182125
HP:0001332HP:0012049Laryngeal dystonia2SQSTM1 CL E G H8878617145Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset617145C4310693OMIM167711280601530
HP:0001332HP:0012179Craniofacial dystonia2SQSTM1 CL E G H8878617145Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset617145C4310693OMIM167711280601530
HP:0001332HP:0002356Writer's cramp2SQSTM1 CL E G H8878617145Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset617145C4310693OMIM167711280601530
HP:0001332HP:0031960Arm dystonia2SQSTM1 CL E G H8878617145Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset617145C4310693OMIM167711280601530
HP:0001332HP:0031959Leg dystonia2SQSTM1 CL E G H8878617145Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset617145C4310693OMIM167711280601530
HP:0001332HP:0012049Laryngeal dystonia2STN1 CL E G H79991617341Cerebroretinal microangiopathy with calcifications and cysts 2617341C4479220OMIM122526200613128
HP:0001332HP:0012179Craniofacial dystonia2STN1 CL E G H79991617341Cerebroretinal microangiopathy with calcifications and cysts 2617341C4479220OMIM122526200613128
HP:0001332HP:0002356Writer's cramp2STN1 CL E G H79991617341Cerebroretinal microangiopathy with calcifications and cysts 2617341C4479220OMIM122526200613128
HP:0001332HP:0031960Arm dystonia2STN1 CL E G H79991617341Cerebroretinal microangiopathy with calcifications and cysts 2617341C4479220OMIM122526200613128
HP:0001332HP:0031959Leg dystonia2STN1 CL E G H79991617341Cerebroretinal microangiopathy with calcifications and cysts 2617341C4479220OMIM122526200613128
HP:0001332HP:0012049Laryngeal dystonia2SUCLA2 CL E G H8803612073Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)612073C2749864OMIM141311448603921
HP:0001332HP:0012179Craniofacial dystonia2SUCLA2 CL E G H8803612073Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)612073C2749864OMIM141311448603921
HP:0001332HP:0002356Writer's cramp2SUCLA2 CL E G H8803612073Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)612073C2749864OMIM141311448603921
HP:0001332HP:0031960Arm dystonia2SUCLA2 CL E G H8803612073Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)612073C2749864OMIM141311448603921
HP:0001332HP:0031959Leg dystonia2SUCLA2 CL E G H8803612073Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)612073C2749864OMIM141311448603921
HP:0001332HP:0012049Laryngeal dystonia2SURF1 CL E G H6834255241ORPHA153211474185620
HP:0001332HP:0012179Craniofacial dystonia2SURF1 CL E G H6834255241ORPHA153211474185620
HP:0001332HP:0002356Writer's cramp2SURF1 CL E G H6834255241ORPHA153211474185620
HP:0001332HP:0031960Arm dystonia2SURF1 CL E G H6834255241ORPHA153211474185620
HP:0001332HP:0031959Leg dystonia2SURF1 CL E G H6834255241ORPHA153211474185620
HP:0001332HP:0012049Laryngeal dystonia2SURF1 CL E G H6834616684Charcot-Marie-Tooth disease, type 4k616684C4225246OMIM153211474185620
HP:0001332HP:0012179Craniofacial dystonia2SURF1 CL E G H6834616684Charcot-Marie-Tooth disease, type 4k616684C4225246OMIM153211474185620
HP:0001332HP:0002356Writer's cramp2SURF1 CL E G H6834616684Charcot-Marie-Tooth disease, type 4k616684C4225246OMIM153211474185620
HP:0001332HP:0031960Arm dystonia2SURF1 CL E G H6834616684Charcot-Marie-Tooth disease, type 4k616684C4225246OMIM153211474185620
HP:0001332HP:0031959Leg dystonia2SURF1 CL E G H6834616684Charcot-Marie-Tooth disease, type 4k616684C4225246OMIM153211474185620
HP:0001332HP:0012049Laryngeal dystonia2SURF1 CL E G H6834256000Leigh syndrome256000C0023264OMIM153211474185620
HP:0001332HP:0012179Craniofacial dystonia2SURF1 CL E G H6834256000Leigh syndrome256000C0023264OMIM153211474185620
HP:0001332HP:0002356Writer's cramp2SURF1 CL E G H6834256000Leigh syndrome256000C0023264OMIM153211474185620
HP:0001332HP:0031960Arm dystonia2SURF1 CL E G H6834256000Leigh syndrome256000C0023264OMIM153211474185620
HP:0001332HP:0031959Leg dystonia2SURF1 CL E G H6834256000Leigh syndrome256000C0023264OMIM153211474185620
HP:0001332HP:0012049Laryngeal dystonia2SYNJ1 CL E G H8867391411ORPHA1131511503604297
HP:0001332HP:0012179Craniofacial dystonia2SYNJ1 CL E G H8867391411ORPHA1131511503604297
HP:0001332HP:0002356Writer's cramp2SYNJ1 CL E G H8867391411ORPHA1131511503604297
HP:0001332HP:0031960Arm dystonia2SYNJ1 CL E G H8867391411ORPHA1131511503604297
HP:0001332HP:0031959Leg dystonia2SYNJ1 CL E G H8867391411ORPHA1131511503604297
HP:0001332HP:0012049Laryngeal dystonia2SYNJ1 CL E G H8867615530Parkinson disease 20, early-onset615530C3809824OMIM1131511503604297
HP:0001332HP:0012179Craniofacial dystonia2SYNJ1 CL E G H8867615530Parkinson disease 20, early-onset615530C3809824OMIM1131511503604297
HP:0001332HP:0002356Writer's cramp2SYNJ1 CL E G H8867615530Parkinson disease 20, early-onset615530C3809824OMIM1131511503604297
HP:0001332HP:0031960Arm dystonia2SYNJ1 CL E G H8867615530Parkinson disease 20, early-onset615530C3809824OMIM1131511503604297
HP:0001332HP:0031959Leg dystonia2SYNJ1 CL E G H8867615530Parkinson disease 20, early-onset615530C3809824OMIM1131511503604297
HP:0001332HP:0012049Laryngeal dystonia2SYT1 CL E G H6857618218BAKER-GORDON SYNDROME618218OMIM17611509185605
HP:0001332HP:0012179Craniofacial dystonia2SYT1 CL E G H6857618218BAKER-GORDON SYNDROME618218OMIM17611509185605
HP:0001332HP:0002356Writer's cramp2SYT1 CL E G H6857618218BAKER-GORDON SYNDROME618218OMIM17611509185605
HP:0001332HP:0031960Arm dystonia2SYT1 CL E G H6857618218BAKER-GORDON SYNDROME618218OMIM17611509185605
HP:0001332HP:0031959Leg dystonia2SYT1 CL E G H6857618218BAKER-GORDON SYNDROME618218OMIM17611509185605
HP:0001332HP:0012049Laryngeal dystonia2TACO1 CL E G H51204255241ORPHA111724316612958
HP:0001332HP:0012179Craniofacial dystonia2TACO1 CL E G H51204255241ORPHA111724316612958
HP:0001332HP:0002356Writer's cramp2TACO1 CL E G H51204255241ORPHA111724316612958
HP:0001332HP:0031960Arm dystonia2TACO1 CL E G H51204255241ORPHA111724316612958
HP:0001332HP:0031959Leg dystonia2TACO1 CL E G H51204255241ORPHA111724316612958
HP:0001332HP:0012049Laryngeal dystonia2TBC1D24 CL E G H57465352596ORPHA189329203613577
HP:0001332HP:0012179Craniofacial dystonia2TBC1D24 CL E G H57465352596ORPHA189329203613577
HP:0001332HP:0002356Writer's cramp2TBC1D24 CL E G H57465352596ORPHA189329203613577
HP:0001332HP:0031960Arm dystonia2TBC1D24 CL E G H57465352596ORPHA189329203613577
HP:0001332HP:0031959Leg dystonia2TBC1D24 CL E G H57465352596ORPHA189329203613577
HP:0001332HP:0012049Laryngeal dystonia2TBC1D24 CL E G H57465615338Early infantile epileptic encephalopathy 16615338C3809173OMIM189329203613577
HP:0001332HP:0012179Craniofacial dystonia2TBC1D24 CL E G H57465615338Early infantile epileptic encephalopathy 16615338C3809173OMIM189329203613577
HP:0001332HP:0002356Writer's cramp2TBC1D24 CL E G H57465615338Early infantile epileptic encephalopathy 16615338C3809173OMIM189329203613577
HP:0001332HP:0031960Arm dystonia2TBC1D24 CL E G H57465615338Early infantile epileptic encephalopathy 16615338C3809173OMIM189329203613577
HP:0001332HP:0031959Leg dystonia2TBC1D24 CL E G H57465615338Early infantile epileptic encephalopathy 16615338C3809173OMIM189329203613577
HP:0001332HP:0012049Laryngeal dystonia2TBP CL E G H6908607136Spinocerebellar ataxia 17607136C1846707OMIM113111588600075
HP:0001332HP:0012179Craniofacial dystonia2TBP CL E G H6908607136Spinocerebellar ataxia 17607136C1846707OMIM113111588600075
HP:0001332HP:0002356Writer's cramp2TBP CL E G H6908607136Spinocerebellar ataxia 17607136C1846707OMIM113111588600075
HP:0001332HP:0031960Arm dystonia2TBP CL E G H6908607136Spinocerebellar ataxia 17607136C1846707OMIM113111588600075
HP:0001332HP:0031959Leg dystonia2TBP CL E G H6908607136Spinocerebellar ataxia 17607136C1846707OMIM113111588600075
HP:0001332HP:0012049Laryngeal dystonia2TIMM8A CL E G H1678304700Mohr-Tranebjaerg syndrome304700C0796074OMIM122711817300356
HP:0001332HP:0012179Craniofacial dystonia2TIMM8A CL E G H1678304700Mohr-Tranebjaerg syndrome304700C0796074OMIM122711817300356
HP:0001332HP:0002356Writer's cramp2TIMM8A CL E G H1678304700Mohr-Tranebjaerg syndrome304700C0796074OMIM122711817300356
HP:0001332HP:0031960Arm dystonia2TIMM8A CL E G H1678304700Mohr-Tranebjaerg syndrome304700C0796074OMIM122711817300356
HP:0001332HP:0031959Leg dystonia2TIMM8A CL E G H1678304700Mohr-Tranebjaerg syndrome304700C0796074OMIM122711817300356
HP:0001332HP:0012049Laryngeal dystonia2TMEM106B CL E G H54664617964LEUKODYSTROPHY, HYPOMYELINATING, 16617964CN244907OMIM112822407613413
HP:0001332HP:0012179Craniofacial dystonia2TMEM106B CL E G H54664617964LEUKODYSTROPHY, HYPOMYELINATING, 16617964CN244907OMIM112822407613413
HP:0001332HP:0002356Writer's cramp2TMEM106B CL E G H54664617964LEUKODYSTROPHY, HYPOMYELINATING, 16617964CN244907OMIM112822407613413
HP:0001332HP:0031960Arm dystonia2TMEM106B CL E G H54664617964LEUKODYSTROPHY, HYPOMYELINATING, 16617964CN244907OMIM112822407613413
HP:0001332HP:0031959Leg dystonia2TMEM106B CL E G H54664617964LEUKODYSTROPHY, HYPOMYELINATING, 16617964CN244907OMIM112822407613413
HP:0001332HP:0012049Laryngeal dystonia2TPI1 CL E G H7167615512Triosephosphate isomerase deficiency615512C1860808OMIM118112009190450
HP:0001332HP:0012179Craniofacial dystonia2TPI1 CL E G H7167615512Triosephosphate isomerase deficiency615512C1860808OMIM118112009190450
HP:0001332HP:0002356Writer's cramp2TPI1 CL E G H7167615512Triosephosphate isomerase deficiency615512C1860808OMIM118112009190450
HP:0001332HP:0031960Arm dystonia2TPI1 CL E G H7167615512Triosephosphate isomerase deficiency615512C1860808OMIM118112009190450
HP:0001332HP:0031959Leg dystonia2TPI1 CL E G H7167615512Triosephosphate isomerase deficiency615512C1860808OMIM118112009190450
HP:0001332HP:0012049Laryngeal dystonia2TPK1 CL E G H27010614458Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type)614458C3280866OMIM131817358606370
HP:0001332HP:0012179Craniofacial dystonia2TPK1 CL E G H27010614458Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type)614458C3280866OMIM131817358606370
HP:0001332HP:0002356Writer's cramp2TPK1 CL E G H27010614458Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type)614458C3280866OMIM131817358606370
HP:0001332HP:0031960Arm dystonia2TPK1 CL E G H27010614458Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type)614458C3280866OMIM131817358606370
HP:0001332HP:0031959Leg dystonia2TPK1 CL E G H27010614458Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type)614458C3280866OMIM131817358606370
HP:0001332HP:0012049Laryngeal dystonia2TRAPPC11 CL E G H60684615356Limb-girdle muscular dystrophy, type 2S615356C3809236OMIM198325751614138
HP:0001332HP:0012179Craniofacial dystonia2TRAPPC11 CL E G H60684615356Limb-girdle muscular dystrophy, type 2S615356C3809236OMIM198325751614138
HP:0001332HP:0002356Writer's cramp2TRAPPC11 CL E G H60684615356Limb-girdle muscular dystrophy, type 2S615356C3809236OMIM198325751614138
HP:0001332HP:0031960Arm dystonia2TRAPPC11 CL E G H60684615356Limb-girdle muscular dystrophy, type 2S615356C3809236OMIM198325751614138
HP:0001332HP:0031959Leg dystonia2TRAPPC11 CL E G H60684615356Limb-girdle muscular dystrophy, type 2S615356C3809236OMIM198325751614138
HP:0001332HP:0012049Laryngeal dystonia2TRAPPC12 CL E G H51112617669ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND SPASTICITY617669C4540059OMIM120224284614139
HP:0001332HP:0012179Craniofacial dystonia2TRAPPC12 CL E G H51112617669ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND SPASTICITY617669C4540059OMIM120224284614139
HP:0001332HP:0002356Writer's cramp2TRAPPC12 CL E G H51112617669ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND SPASTICITY617669C4540059OMIM120224284614139
HP:0001332HP:0031960Arm dystonia2TRAPPC12 CL E G H51112617669ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND SPASTICITY617669C4540059OMIM120224284614139
HP:0001332HP:0031959Leg dystonia2TRAPPC12 CL E G H51112617669ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND SPASTICITY617669C4540059OMIM120224284614139
HP:0001332HP:0012049Laryngeal dystonia2TREX1 CL E G H1127751ORPHA141812269606609
HP:0001332HP:0012179Craniofacial dystonia2TREX1 CL E G H1127751ORPHA141812269606609
HP:0001332HP:0002356Writer's cramp2TREX1 CL E G H1127751ORPHA141812269606609
HP:0001332HP:0031960Arm dystonia2TREX1 CL E G H1127751ORPHA141812269606609
HP:0001332HP:0031959Leg dystonia2TREX1 CL E G H1127751ORPHA141812269606609
HP:0001332HP:0012049Laryngeal dystonia2TREX1 CL E G H11277225750Aicardi Goutieres syndrome 1225750C0796126OMIM141812269606609
HP:0001332HP:0012179Craniofacial dystonia2TREX1 CL E G H11277225750Aicardi Goutieres syndrome 1225750C0796126OMIM141812269606609
HP:0001332HP:0002356Writer's cramp2TREX1 CL E G H11277225750Aicardi Goutieres syndrome 1225750C0796126OMIM141812269606609
HP:0001332HP:0031960Arm dystonia2TREX1 CL E G H11277225750Aicardi Goutieres syndrome 1225750C0796126OMIM141812269606609
HP:0001332HP:0031959Leg dystonia2TREX1 CL E G H11277225750Aicardi Goutieres syndrome 1225750C0796126OMIM141812269606609
HP:0001332HP:0012049Laryngeal dystonia2TRIT1 CL E G H54802617873COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 35617873CN807948OMIM111320286617840
HP:0001332HP:0012179Craniofacial dystonia2TRIT1 CL E G H54802617873COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 35617873CN807948OMIM111320286617840
HP:0001332HP:0002356Writer's cramp2TRIT1 CL E G H54802617873COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 35617873CN807948OMIM111320286617840
HP:0001332HP:0031960Arm dystonia2TRIT1 CL E G H54802617873COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 35617873CN807948OMIM111320286617840
HP:0001332HP:0031959Leg dystonia2TRIT1 CL E G H54802617873COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 35617873CN807948OMIM111320286617840
HP:0001332HP:0012049Laryngeal dystonia2TSEN2 CL E G H80746612389Pontocerebellar hypoplasia type 2B612389C2676466OMIM128028422608753
HP:0001332HP:0012179Craniofacial dystonia2TSEN2 CL E G H80746612389Pontocerebellar hypoplasia type 2B612389C2676466OMIM128028422608753
HP:0001332HP:0002356Writer's cramp2TSEN2 CL E G H80746612389Pontocerebellar hypoplasia type 2B612389C2676466OMIM128028422608753
HP:0001332HP:0031960Arm dystonia2TSEN2 CL E G H80746612389Pontocerebellar hypoplasia type 2B612389C2676466OMIM128028422608753
HP:0001332HP:0031959Leg dystonia2TSEN2 CL E G H80746612389Pontocerebellar hypoplasia type 2B612389C2676466OMIM128028422608753
HP:0001332HP:0012049Laryngeal dystonia2TSEN34 CL E G H79042612390Pontocerebellar hypoplasia type 2C612390C2676465OMIM116815506608754
HP:0001332HP:0012179Craniofacial dystonia2TSEN34 CL E G H79042612390Pontocerebellar hypoplasia type 2C612390C2676465OMIM116815506608754
HP:0001332HP:0002356Writer's cramp2TSEN34 CL E G H79042612390Pontocerebellar hypoplasia type 2C612390C2676465OMIM116815506608754
HP:0001332HP:0031960Arm dystonia2TSEN34 CL E G H79042612390Pontocerebellar hypoplasia type 2C612390C2676465OMIM116815506608754
HP:0001332HP:0031959Leg dystonia2TSEN34 CL E G H79042612390Pontocerebellar hypoplasia type 2C612390C2676465OMIM116815506608754
HP:0001332HP:0012049Laryngeal dystonia2TSFM CL E G H10102610505Combined oxidative phosphorylation deficiency 3610505C1864840OMIM143412367604723
HP:0001332HP:0012179Craniofacial dystonia2TSFM CL E G H10102610505Combined oxidative phosphorylation deficiency 3610505C1864840OMIM143412367604723
HP:0001332HP:0002356Writer's cramp2TSFM CL E G H10102610505Combined oxidative phosphorylation deficiency 3610505C1864840OMIM143412367604723
HP:0001332HP:0031960Arm dystonia2TSFM CL E G H10102610505Combined oxidative phosphorylation deficiency 3610505C1864840OMIM143412367604723
HP:0001332HP:0031959Leg dystonia2TSFM CL E G H10102610505Combined oxidative phosphorylation deficiency 3610505C1864840OMIM143412367604723
HP:0001332HP:0012049Laryngeal dystonia2TTC19 CL E G H54902615157Mitochondrial complex III deficiency, nuclear type 2615157C3554605OMIM134326006613814
HP:0001332HP:0012179Craniofacial dystonia2TTC19 CL E G H54902615157Mitochondrial complex III deficiency, nuclear type 2615157C3554605OMIM134326006613814
HP:0001332HP:0002356Writer's cramp2TTC19 CL E G H54902615157Mitochondrial complex III deficiency, nuclear type 2615157C3554605OMIM134326006613814
HP:0001332HP:0031960Arm dystonia2TTC19 CL E G H54902615157Mitochondrial complex III deficiency, nuclear type 2615157C3554605OMIM134326006613814
HP:0001332HP:0031959Leg dystonia2TTC19 CL E G H54902615157Mitochondrial complex III deficiency, nuclear type 2615157C3554605OMIM134326006613814
HP:0001332HP:0012049Laryngeal dystonia2TUBB4A CL E G H10382612438Leukodystrophy, hypomyelinating, 6612438C2676244OMIM127220774602662
HP:0001332HP:0012179Craniofacial dystonia2TUBB4A CL E G H10382612438Leukodystrophy, hypomyelinating, 6612438C2676244OMIM127220774602662
HP:0001332HP:0002356Writer's cramp2TUBB4A CL E G H10382612438Leukodystrophy, hypomyelinating, 6612438C2676244OMIM127220774602662
HP:0001332HP:0031960Arm dystonia2TUBB4A CL E G H10382612438Leukodystrophy, hypomyelinating, 6612438C2676244OMIM127220774602662
HP:0001332HP:0031959Leg dystonia2TUBB4A CL E G H10382612438Leukodystrophy, hypomyelinating, 6612438C2676244OMIM127220774602662
HP:0001332HP:0012049Laryngeal dystonia2TXN2 CL E G H25828616811Combined oxidative phosphorylation deficiency 29616811C4225200OMIM17617772609063
HP:0001332HP:0012179Craniofacial dystonia2TXN2 CL E G H25828616811Combined oxidative phosphorylation deficiency 29616811C4225200OMIM17617772609063
HP:0001332HP:0002356Writer's cramp2TXN2 CL E G H25828616811Combined oxidative phosphorylation deficiency 29616811C4225200OMIM17617772609063
HP:0001332HP:0031960Arm dystonia2TXN2 CL E G H25828616811Combined oxidative phosphorylation deficiency 29616811C4225200OMIM17617772609063
HP:0001332HP:0031959Leg dystonia2TXN2 CL E G H25828616811Combined oxidative phosphorylation deficiency 29616811C4225200OMIM17617772609063
HP:0001332HP:0012049Laryngeal dystonia2UBA5 CL E G H79876617132Epileptic encephalopathy, early infantile, 44617132C4310700OMIM122323230610552
HP:0001332HP:0012179Craniofacial dystonia2UBA5 CL E G H79876617132Epileptic encephalopathy, early infantile, 44617132C4310700OMIM122323230610552
HP:0001332HP:0002356Writer's cramp2UBA5 CL E G H79876617132Epileptic encephalopathy, early infantile, 44617132C4310700OMIM122323230610552
HP:0001332HP:0031960Arm dystonia2UBA5 CL E G H79876617132Epileptic encephalopathy, early infantile, 44617132C4310700OMIM122323230610552
HP:0001332HP:0031959Leg dystonia2UBA5 CL E G H79876617132Epileptic encephalopathy, early infantile, 44617132C4310700OMIM122323230610552
HP:0001332HP:0012049Laryngeal dystonia2UBQLN2 CL E G H29978300857Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia300857C3275459OMIM127312509300264
HP:0001332HP:0012179Craniofacial dystonia2UBQLN2 CL E G H29978300857Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia300857C3275459OMIM127312509300264
HP:0001332HP:0002356Writer's cramp2UBQLN2 CL E G H29978300857Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia300857C3275459OMIM127312509300264
HP:0001332HP:0031960Arm dystonia2UBQLN2 CL E G H29978300857Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia300857C3275459OMIM127312509300264
HP:0001332HP:0031959Leg dystonia2UBQLN2 CL E G H29978300857Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia300857C3275459OMIM127312509300264
HP:0001332HP:0012049Laryngeal dystonia2UBTF CL E G H7343617672NEURODEGENERATION, CHILDHOOD-ONSET, WITH BRAIN ATROPHY617672C4540086OMIM18412511600673
HP:0001332HP:0012179Craniofacial dystonia2UBTF CL E G H7343617672NEURODEGENERATION, CHILDHOOD-ONSET, WITH BRAIN ATROPHY617672C4540086OMIM18412511600673
HP:0001332HP:0002356Writer's cramp2UBTF CL E G H7343617672NEURODEGENERATION, CHILDHOOD-ONSET, WITH BRAIN ATROPHY617672C4540086OMIM18412511600673
HP:0001332HP:0031960Arm dystonia2UBTF CL E G H7343617672NEURODEGENERATION, CHILDHOOD-ONSET, WITH BRAIN ATROPHY617672C4540086OMIM18412511600673
HP:0001332HP:0031959Leg dystonia2UBTF CL E G H7343617672NEURODEGENERATION, CHILDHOOD-ONSET, WITH BRAIN ATROPHY617672C4540086OMIM18412511600673
HP:0001332HP:0012049Laryngeal dystonia2UFM1 CL E G H51569617899LEUKODYSTROPHY, HYPOMYELINATING, 14617899CN845004OMIM17720597610553
HP:0001332HP:0012179Craniofacial dystonia2UFM1 CL E G H51569617899LEUKODYSTROPHY, HYPOMYELINATING, 14617899CN845004OMIM17720597610553
HP:0001332HP:0002356Writer's cramp2UFM1 CL E G H51569617899LEUKODYSTROPHY, HYPOMYELINATING, 14617899CN845004OMIM17720597610553
HP:0001332HP:0031960Arm dystonia2UFM1 CL E G H51569617899LEUKODYSTROPHY, HYPOMYELINATING, 14617899CN845004OMIM17720597610553
HP:0001332HP:0031959Leg dystonia2UFM1 CL E G H51569617899LEUKODYSTROPHY, HYPOMYELINATING, 14617899CN845004OMIM17720597610553
HP:0001332HP:0012049Laryngeal dystonia2UPB1 CL E G H51733613161Deficiency of beta-ureidopropionase613161C1291512OMIM127116297606673
HP:0001332HP:0012179Craniofacial dystonia2UPB1 CL E G H51733613161Deficiency of beta-ureidopropionase613161C1291512OMIM127116297606673
HP:0001332HP:0002356Writer's cramp2UPB1 CL E G H51733613161Deficiency of beta-ureidopropionase613161C1291512OMIM127116297606673
HP:0001332HP:0031960Arm dystonia2UPB1 CL E G H51733613161Deficiency of beta-ureidopropionase613161C1291512OMIM127116297606673
HP:0001332HP:0031959Leg dystonia2UPB1 CL E G H51733613161Deficiency of beta-ureidopropionase613161C1291512OMIM127116297606673
HP:0001332HP:0012049Laryngeal dystonia2UQCRQ CL E G H27089615159Mitochondrial complex III deficiency, nuclear type 4615159C3554607OMIM110229594612080
HP:0001332HP:0012179Craniofacial dystonia2UQCRQ CL E G H27089615159Mitochondrial complex III deficiency, nuclear type 4615159C3554607OMIM110229594612080
HP:0001332HP:0002356Writer's cramp2UQCRQ CL E G H27089615159Mitochondrial complex III deficiency, nuclear type 4615159C3554607OMIM110229594612080
HP:0001332HP:0031960Arm dystonia2UQCRQ CL E G H27089615159Mitochondrial complex III deficiency, nuclear type 4615159C3554607OMIM110229594612080
HP:0001332HP:0031959Leg dystonia2UQCRQ CL E G H27089615159Mitochondrial complex III deficiency, nuclear type 4615159C3554607OMIM110229594612080
HP:0001332HP:0012049Laryngeal dystonia2VAMP1 CL E G H6843108600Ataxia, spastic, 1, autosomal dominant108600C1970107OMIM114112642185880
HP:0001332HP:0012179Craniofacial dystonia2VAMP1 CL E G H6843108600Ataxia, spastic, 1, autosomal dominant108600C1970107OMIM114112642185880
HP:0001332HP:0002356Writer's cramp2VAMP1 CL E G H6843108600Ataxia, spastic, 1, autosomal dominant108600C1970107OMIM114112642185880
HP:0001332HP:0031960Arm dystonia2VAMP1 CL E G H6843108600Ataxia, spastic, 1, autosomal dominant108600C1970107OMIM114112642185880
HP:0001332HP:0031959Leg dystonia2VAMP1 CL E G H6843108600Ataxia, spastic, 1, autosomal dominant108600C1970107OMIM114112642185880
HP:0001332HP:0012049Laryngeal dystonia2VCP CL E G H7415167320Inclusion body myopathy with early-onset paget disease and frontotemporal dementia167320C1833662OMIM160712666601023
HP:0001332HP:0012179Craniofacial dystonia2VCP CL E G H7415167320Inclusion body myopathy with early-onset paget disease and frontotemporal dementia167320C1833662OMIM160712666601023
HP:0001332HP:0002356Writer's cramp2VCP CL E G H7415167320Inclusion body myopathy with early-onset paget disease and frontotemporal dementia167320C1833662OMIM160712666601023
HP:0001332HP:0031960Arm dystonia2VCP CL E G H7415167320Inclusion body myopathy with early-onset paget disease and frontotemporal dementia167320C1833662OMIM160712666601023
HP:0001332HP:0031959Leg dystonia2VCP CL E G H7415167320Inclusion body myopathy with early-onset paget disease and frontotemporal dementia167320C1833662OMIM160712666601023
HP:0001332HP:0012049Laryngeal dystonia2VPS13A CL E G H232302388ORPHA123621908605978
HP:0001332HP:0012179Craniofacial dystonia2VPS13A CL E G H232302388ORPHA123621908605978
HP:0001332HP:0002356Writer's cramp2VPS13A CL E G H232302388ORPHA123621908605978
HP:0001332HP:0031960Arm dystonia2VPS13A CL E G H232302388ORPHA123621908605978
HP:0001332HP:0031959Leg dystonia2VPS13A CL E G H232302388ORPHA123621908605978
HP:0001332HP:0012049Laryngeal dystonia2VPS13A CL E G H23230200150Choreoacanthocytosis200150C0393576OMIM123621908605978
HP:0001332HP:0012179Craniofacial dystonia2VPS13A CL E G H23230200150Choreoacanthocytosis200150C0393576OMIM123621908605978
HP:0001332HP:0002356Writer's cramp2VPS13A CL E G H23230200150Choreoacanthocytosis200150C0393576OMIM123621908605978
HP:0001332HP:0031960Arm dystonia2VPS13A CL E G H23230200150Choreoacanthocytosis200150C0393576OMIM123621908605978
HP:0001332HP:0031959Leg dystonia2VPS13A CL E G H23230200150Choreoacanthocytosis200150C0393576OMIM123621908605978
HP:0001332HP:0012049Laryngeal dystonia2VPS13D CL E G H55187607317Spinocerebellar ataxia autosomal recessive 4607317C1846492OMIM1103423595608877
HP:0001332HP:0012179Craniofacial dystonia2VPS13D CL E G H55187607317Spinocerebellar ataxia autosomal recessive 4607317C1846492OMIM1103423595608877
HP:0001332HP:0002356Writer's cramp2VPS13D CL E G H55187607317Spinocerebellar ataxia autosomal recessive 4607317C1846492OMIM1103423595608877
HP:0001332HP:0031960Arm dystonia2VPS13D CL E G H55187607317Spinocerebellar ataxia autosomal recessive 4607317C1846492OMIM1103423595608877
HP:0001332HP:0031959Leg dystonia2VPS13D CL E G H55187607317Spinocerebellar ataxia autosomal recessive 4607317C1846492OMIM1103423595608877
HP:0001332HP:0012049Laryngeal dystonia2WARS2 CL E G H10352617710NEURODEVELOPMENTAL DISORDER, MITOCHONDRIAL, WITH ABNORMAL MOVEMENTS AND LACTIC ACIDOSIS, WITH OR WITHOUT SEIZURES617710C4540192OMIM114412730604733
HP:0001332HP:0012179Craniofacial dystonia2WARS2 CL E G H10352617710NEURODEVELOPMENTAL DISORDER, MITOCHONDRIAL, WITH ABNORMAL MOVEMENTS AND LACTIC ACIDOSIS, WITH OR WITHOUT SEIZURES617710C4540192OMIM114412730604733
HP:0001332HP:0002356Writer's cramp2WARS2 CL E G H10352617710NEURODEVELOPMENTAL DISORDER, MITOCHONDRIAL, WITH ABNORMAL MOVEMENTS AND LACTIC ACIDOSIS, WITH OR WITHOUT SEIZURES617710C4540192OMIM114412730604733
HP:0001332HP:0031960Arm dystonia2WARS2 CL E G H10352617710NEURODEVELOPMENTAL DISORDER, MITOCHONDRIAL, WITH ABNORMAL MOVEMENTS AND LACTIC ACIDOSIS, WITH OR WITHOUT SEIZURES617710C4540192OMIM114412730604733
HP:0001332HP:0031959Leg dystonia2WARS2 CL E G H10352617710NEURODEVELOPMENTAL DISORDER, MITOCHONDRIAL, WITH ABNORMAL MOVEMENTS AND LACTIC ACIDOSIS, WITH OR WITHOUT SEIZURES617710C4540192OMIM114412730604733
HP:0001332HP:0012049Laryngeal dystonia2WDR45 CL E G H11152329284ORPHA158728912300526
HP:0001332HP:0012179Craniofacial dystonia2WDR45 CL E G H11152329284ORPHA158728912300526
HP:0001332HP:0002356Writer's cramp2WDR45 CL E G H11152329284ORPHA158728912300526
HP:0001332HP:0031960Arm dystonia2WDR45 CL E G H11152329284ORPHA158728912300526
HP:0001332HP:0031959Leg dystonia2WDR45 CL E G H11152329284ORPHA158728912300526
HP:0001332HP:0012049Laryngeal dystonia2WDR45 CL E G H11152300894Neurodegeneration with brain iron accumulation 5300894C3550973OMIM158728912300526
HP:0001332HP:0012179Craniofacial dystonia2WDR45 CL E G H11152300894Neurodegeneration with brain iron accumulation 5300894C3550973OMIM158728912300526
HP:0001332HP:0002356Writer's cramp2WDR45 CL E G H11152300894Neurodegeneration with brain iron accumulation 5300894C3550973OMIM158728912300526
HP:0001332HP:0031960Arm dystonia2WDR45 CL E G H11152300894Neurodegeneration with brain iron accumulation 5300894C3550973OMIM158728912300526
HP:0001332HP:0031959Leg dystonia2WDR45 CL E G H11152300894Neurodegeneration with brain iron accumulation 5300894C3550973OMIM158728912300526
HP:0001332HP:0012049Laryngeal dystonia2YY1 CL E G H7528617557GABRIELE-DE VRIES SYNDROME617557C4479652OMIM111712856600013
HP:0001332HP:0012179Craniofacial dystonia2YY1 CL E G H7528617557GABRIELE-DE VRIES SYNDROME617557C4479652OMIM111712856600013
HP:0001332HP:0002356Writer's cramp2YY1 CL E G H7528617557GABRIELE-DE VRIES SYNDROME617557C4479652OMIM111712856600013
HP:0001332HP:0031960Arm dystonia2YY1 CL E G H7528617557GABRIELE-DE VRIES SYNDROME617557C4479652OMIM111712856600013
HP:0001332HP:0031959Leg dystonia2YY1 CL E G H7528617557GABRIELE-DE VRIES SYNDROME617557C4479652OMIM111712856600013
HP:0001332HP:0012049Laryngeal dystonia2ZC4H2 CL E G H55906314580Wieacker Wolff syndrome314580C0796200OMIM127924931300897
HP:0001332HP:0012179Craniofacial dystonia2ZC4H2 CL E G H55906314580Wieacker Wolff syndrome314580C0796200OMIM127924931300897
HP:0001332HP:0002356Writer's cramp2ZC4H2 CL E G H55906314580Wieacker Wolff syndrome314580C0796200OMIM127924931300897
HP:0001332HP:0031960Arm dystonia2ZC4H2 CL E G H55906314580Wieacker Wolff syndrome314580C0796200OMIM127924931300897
HP:0001332HP:0031959Leg dystonia2ZC4H2 CL E G H55906314580Wieacker Wolff syndrome314580C0796200OMIM127924931300897
HP:0001332HP:0000643Blepharospasm3AARS2 CL E G H57505615889Leukoencephalopathy, progressive, with ovarian failure615889C4014588OMIM154321022612035
HP:0001332HP:0000473Torticollis3AARS2 CL E G H57505615889Leukoencephalopathy, progressive, with ovarian failure615889C4014588OMIM154321022612035
HP:0001332HP:0031008Lingual dystonia3AARS2 CL E G H57505615889Leukoencephalopathy, progressive, with ovarian failure615889C4014588OMIM154321022612035
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3AARS2 CL E G H57505615889Leukoencephalopathy, progressive, with ovarian failure615889C4014588OMIM154321022612035
HP:0001332HP:0012048Oromandibular dystonia3AARS2 CL E G H57505615889Leukoencephalopathy, progressive, with ovarian failure615889C4014588OMIM154321022612035
HP:0001332HP:0000643Blepharospasm3ACER3 CL E G H55331617762LEUKODYSTROPHY, PROGRESSIVE, EARLY CHILDHOOD-ONSET617762C4540358OMIM17316066617036
HP:0001332HP:0000473Torticollis3ACER3 CL E G H55331617762LEUKODYSTROPHY, PROGRESSIVE, EARLY CHILDHOOD-ONSET617762C4540358OMIM17316066617036
HP:0001332HP:0031008Lingual dystonia3ACER3 CL E G H55331617762LEUKODYSTROPHY, PROGRESSIVE, EARLY CHILDHOOD-ONSET617762C4540358OMIM17316066617036
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3ACER3 CL E G H55331617762LEUKODYSTROPHY, PROGRESSIVE, EARLY CHILDHOOD-ONSET617762C4540358OMIM17316066617036
HP:0001332HP:0012048Oromandibular dystonia3ACER3 CL E G H55331617762LEUKODYSTROPHY, PROGRESSIVE, EARLY CHILDHOOD-ONSET617762C4540358OMIM17316066617036
HP:0001332HP:0000643Blepharospasm3ACOX1 CL E G H51264470Pseudoneonatal adrenoleukodystrophy264470C1849678OMIM1665119609751
HP:0001332HP:0000473Torticollis3ACOX1 CL E G H51264470Pseudoneonatal adrenoleukodystrophy264470C1849678OMIM1665119609751
HP:0001332HP:0031008Lingual dystonia3ACOX1 CL E G H51264470Pseudoneonatal adrenoleukodystrophy264470C1849678OMIM1665119609751
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3ACOX1 CL E G H51264470Pseudoneonatal adrenoleukodystrophy264470C1849678OMIM1665119609751
HP:0001332HP:0012048Oromandibular dystonia3ACOX1 CL E G H51264470Pseudoneonatal adrenoleukodystrophy264470C1849678OMIM1665119609751
HP:0001332HP:0000643Blepharospasm3ADAR CL E G H10351ORPHA11122225146920
HP:0001332HP:0000473Torticollis3ADAR CL E G H10351ORPHA11122225146920
HP:0001332HP:0031008Lingual dystonia3ADAR CL E G H10351ORPHA11122225146920
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3ADAR CL E G H10351ORPHA11122225146920
HP:0001332HP:0012048Oromandibular dystonia3ADAR CL E G H10351ORPHA11122225146920
HP:0001332HP:0000643Blepharospasm3ADAR CL E G H103225154ORPHA11122225146920
HP:0001332HP:0000473Torticollis3ADAR CL E G H103225154ORPHA11122225146920
HP:0001332HP:0031008Lingual dystonia3ADAR CL E G H103225154ORPHA11122225146920
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3ADAR CL E G H103225154ORPHA11122225146920
HP:0001332HP:0012048Oromandibular dystonia3ADAR CL E G H103225154ORPHA11122225146920
HP:0001332HP:0000643Blepharospasm3ADAR CL E G H103615010Aicardi-Goutieres syndrome 6615010C3539013OMIM11122225146920
HP:0001332HP:0000473Torticollis3ADAR CL E G H103615010Aicardi-Goutieres syndrome 6615010C3539013OMIM11122225146920
HP:0001332HP:0031008Lingual dystonia3ADAR CL E G H103615010Aicardi-Goutieres syndrome 6615010C3539013OMIM11122225146920
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3ADAR CL E G H103615010Aicardi-Goutieres syndrome 6615010C3539013OMIM11122225146920
HP:0001332HP:0012048Oromandibular dystonia3ADAR CL E G H103615010Aicardi-Goutieres syndrome 6615010C3539013OMIM11122225146920
HP:0001332HP:0000643Blepharospasm3ADCY5 CL E G H111324588ORPHA1653236600293
HP:0001332HP:0000473Torticollis3ADCY5 CL E G H111324588ORPHA1653236600293
HP:0001332HP:0031008Lingual dystonia3ADCY5 CL E G H111324588ORPHA1653236600293
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3ADCY5 CL E G H111324588ORPHA1653236600293
HP:0001332HP:0012048Oromandibular dystonia3ADCY5 CL E G H111324588ORPHA1653236600293
HP:0001332HP:0000643Blepharospasm3ADCY5 CL E G H111606703Dyskinesia, familial, with facial myokymia606703C1847627OMIM1653236600293
HP:0001332HP:0000473Torticollis3ADCY5 CL E G H111606703Dyskinesia, familial, with facial myokymia606703C1847627OMIM1653236600293
HP:0001332HP:0031008Lingual dystonia3ADCY5 CL E G H111606703Dyskinesia, familial, with facial myokymia606703C1847627OMIM1653236600293
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3ADCY5 CL E G H111606703Dyskinesia, familial, with facial myokymia606703C1847627OMIM1653236600293
HP:0001332HP:0012048Oromandibular dystonia3ADCY5 CL E G H111606703Dyskinesia, familial, with facial myokymia606703C1847627OMIM1653236600293
HP:0001332HP:0000643Blepharospasm3AFG3L2 CL E G H10939313772ORPHA1480315604581
HP:0001332HP:0000473Torticollis3AFG3L2 CL E G H10939313772ORPHA1480315604581
HP:0001332HP:0031008Lingual dystonia3AFG3L2 CL E G H10939313772ORPHA1480315604581
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3AFG3L2 CL E G H10939313772ORPHA1480315604581
HP:0001332HP:0012048Oromandibular dystonia3AFG3L2 CL E G H10939313772ORPHA1480315604581
HP:0001332HP:0000643Blepharospasm3AFG3L2 CL E G H10939614487Spastic ataxia 5, autosomal recessive614487C3280977OMIM1480315604581
HP:0001332HP:0000473Torticollis3AFG3L2 CL E G H10939614487Spastic ataxia 5, autosomal recessive614487C3280977OMIM1480315604581
HP:0001332HP:0031008Lingual dystonia3AFG3L2 CL E G H10939614487Spastic ataxia 5, autosomal recessive614487C3280977OMIM1480315604581
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3AFG3L2 CL E G H10939614487Spastic ataxia 5, autosomal recessive614487C3280977OMIM1480315604581
HP:0001332HP:0012048Oromandibular dystonia3AFG3L2 CL E G H10939614487Spastic ataxia 5, autosomal recessive614487C3280977OMIM1480315604581
HP:0001332HP:0000643Blepharospasm3ALDH6A1 CL E G H4329614105Methylmalonate semialdehyde dehydrogenase deficiency614105C3279840OMIM12097179603178
HP:0001332HP:0000473Torticollis3ALDH6A1 CL E G H4329614105Methylmalonate semialdehyde dehydrogenase deficiency614105C3279840OMIM12097179603178
HP:0001332HP:0031008Lingual dystonia3ALDH6A1 CL E G H4329614105Methylmalonate semialdehyde dehydrogenase deficiency614105C3279840OMIM12097179603178
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3ALDH6A1 CL E G H4329614105Methylmalonate semialdehyde dehydrogenase deficiency614105C3279840OMIM12097179603178
HP:0001332HP:0012048Oromandibular dystonia3ALDH6A1 CL E G H4329614105Methylmalonate semialdehyde dehydrogenase deficiency614105C3279840OMIM12097179603178
HP:0001332HP:0000643Blepharospasm3AP3D1 CL E G H8943617050Hermansky-Pudlak syndrome 10617050C4310746OMIM1893568607246
HP:0001332HP:0000473Torticollis3AP3D1 CL E G H8943617050Hermansky-Pudlak syndrome 10617050C4310746OMIM1893568607246
HP:0001332HP:0031008Lingual dystonia3AP3D1 CL E G H8943617050Hermansky-Pudlak syndrome 10617050C4310746OMIM1893568607246
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3AP3D1 CL E G H8943617050Hermansky-Pudlak syndrome 10617050C4310746OMIM1893568607246
HP:0001332HP:0012048Oromandibular dystonia3AP3D1 CL E G H8943617050Hermansky-Pudlak syndrome 10617050C4310746OMIM1893568607246
HP:0001332HP:0000643Blepharospasm3AP4B1 CL E G H10717280763ORPHA1403572607245
HP:0001332HP:0000473Torticollis3AP4B1 CL E G H10717280763ORPHA1403572607245
HP:0001332HP:0031008Lingual dystonia3AP4B1 CL E G H10717280763ORPHA1403572607245
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3AP4B1 CL E G H10717280763ORPHA1403572607245
HP:0001332HP:0012048Oromandibular dystonia3AP4B1 CL E G H10717280763ORPHA1403572607245
HP:0001332HP:0000643Blepharospasm3AP4B1 CL E G H10717614066Spastic paraplegia 47, autosomal recessive614066C3279738OMIM1403572607245
HP:0001332HP:0000473Torticollis3AP4B1 CL E G H10717614066Spastic paraplegia 47, autosomal recessive614066C3279738OMIM1403572607245
HP:0001332HP:0031008Lingual dystonia3AP4B1 CL E G H10717614066Spastic paraplegia 47, autosomal recessive614066C3279738OMIM1403572607245
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3AP4B1 CL E G H10717614066Spastic paraplegia 47, autosomal recessive614066C3279738OMIM1403572607245
HP:0001332HP:0012048Oromandibular dystonia3AP4B1 CL E G H10717614066Spastic paraplegia 47, autosomal recessive614066C3279738OMIM1403572607245
HP:0001332HP:0000643Blepharospasm3AP4E1 CL E G H23431280763ORPHA1509573607244
HP:0001332HP:0000473Torticollis3AP4E1 CL E G H23431280763ORPHA1509573607244
HP:0001332HP:0031008Lingual dystonia3AP4E1 CL E G H23431280763ORPHA1509573607244
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3AP4E1 CL E G H23431280763ORPHA1509573607244
HP:0001332HP:0012048Oromandibular dystonia3AP4E1 CL E G H23431280763ORPHA1509573607244
HP:0001332HP:0000643Blepharospasm3AP4M1 CL E G H9179280763ORPHA1429574602296
HP:0001332HP:0000473Torticollis3AP4M1 CL E G H9179280763ORPHA1429574602296
HP:0001332HP:0031008Lingual dystonia3AP4M1 CL E G H9179280763ORPHA1429574602296
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3AP4M1 CL E G H9179280763ORPHA1429574602296
HP:0001332HP:0012048Oromandibular dystonia3AP4M1 CL E G H9179280763ORPHA1429574602296
HP:0001332HP:0000643Blepharospasm3AP4S1 CL E G H11154280763ORPHA1148575607243
HP:0001332HP:0000473Torticollis3AP4S1 CL E G H11154280763ORPHA1148575607243
HP:0001332HP:0031008Lingual dystonia3AP4S1 CL E G H11154280763ORPHA1148575607243
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3AP4S1 CL E G H11154280763ORPHA1148575607243
HP:0001332HP:0012048Oromandibular dystonia3AP4S1 CL E G H11154280763ORPHA1148575607243
HP:0001332HP:0000643Blepharospasm3APTX CL E G H54840208920Ataxia-oculomotor apraxia type 1208920C1859598OMIM133115984606350
HP:0001332HP:0000473Torticollis3APTX CL E G H54840208920Ataxia-oculomotor apraxia type 1208920C1859598OMIM133115984606350
HP:0001332HP:0031008Lingual dystonia3APTX CL E G H54840208920Ataxia-oculomotor apraxia type 1208920C1859598OMIM133115984606350
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3APTX CL E G H54840208920Ataxia-oculomotor apraxia type 1208920C1859598OMIM133115984606350
HP:0001332HP:0012048Oromandibular dystonia3APTX CL E G H54840208920Ataxia-oculomotor apraxia type 1208920C1859598OMIM133115984606350
HP:0001332HP:0000643Blepharospasm3ARSA CL E G H410309256ORPHA11140713607574
HP:0001332HP:0000473Torticollis3ARSA CL E G H410309256ORPHA11140713607574
HP:0001332HP:0031008Lingual dystonia3ARSA CL E G H410309256ORPHA11140713607574
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3ARSA CL E G H410309256ORPHA11140713607574
HP:0001332HP:0012048Oromandibular dystonia3ARSA CL E G H410309256ORPHA11140713607574
HP:0001332HP:0000643Blepharospasm3ARSA CL E G H410309263ORPHA11140713607574
HP:0001332HP:0000473Torticollis3ARSA CL E G H410309263ORPHA11140713607574
HP:0001332HP:0031008Lingual dystonia3ARSA CL E G H410309263ORPHA11140713607574
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3ARSA CL E G H410309263ORPHA11140713607574
HP:0001332HP:0012048Oromandibular dystonia3ARSA CL E G H410309263ORPHA11140713607574
HP:0001332HP:0000643Blepharospasm3ARSA CL E G H410309271ORPHA11140713607574
HP:0001332HP:0000473Torticollis3ARSA CL E G H410309271ORPHA11140713607574
HP:0001332HP:0031008Lingual dystonia3ARSA CL E G H410309271ORPHA11140713607574
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3ARSA CL E G H410309271ORPHA11140713607574
HP:0001332HP:0012048Oromandibular dystonia3ARSA CL E G H410309271ORPHA11140713607574
HP:0001332HP:0000643Blepharospasm3ARSA CL E G H410250100Metachromatic leukodystrophy250100C0023522OMIM11140713607574
HP:0001332HP:0000473Torticollis3ARSA CL E G H410250100Metachromatic leukodystrophy250100C0023522OMIM11140713607574
HP:0001332HP:0031008Lingual dystonia3ARSA CL E G H410250100Metachromatic leukodystrophy250100C0023522OMIM11140713607574
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3ARSA CL E G H410250100Metachromatic leukodystrophy250100C0023522OMIM11140713607574
HP:0001332HP:0012048Oromandibular dystonia3ARSA CL E G H410250100Metachromatic leukodystrophy250100C0023522OMIM11140713607574
HP:0001332HP:0000643Blepharospasm3ARV1 CL E G H64801617020Epileptic encephalopathy, early infantile, 38617020C4310762OMIM18929561611647
HP:0001332HP:0000473Torticollis3ARV1 CL E G H64801617020Epileptic encephalopathy, early infantile, 38617020C4310762OMIM18929561611647
HP:0001332HP:0031008Lingual dystonia3ARV1 CL E G H64801617020Epileptic encephalopathy, early infantile, 38617020C4310762OMIM18929561611647
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3ARV1 CL E G H64801617020Epileptic encephalopathy, early infantile, 38617020C4310762OMIM18929561611647
HP:0001332HP:0012048Oromandibular dystonia3ARV1 CL E G H64801617020Epileptic encephalopathy, early infantile, 38617020C4310762OMIM18929561611647
HP:0001332HP:0000643Blepharospasm3ARX CL E G H170302308350Epileptic encephalopathy, early infantile, 1308350C3463992OMIM181018060300382
HP:0001332HP:0000473Torticollis3ARX CL E G H170302308350Epileptic encephalopathy, early infantile, 1308350C3463992OMIM181018060300382
HP:0001332HP:0031008Lingual dystonia3ARX CL E G H170302308350Epileptic encephalopathy, early infantile, 1308350C3463992OMIM181018060300382
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3ARX CL E G H170302308350Epileptic encephalopathy, early infantile, 1308350C3463992OMIM181018060300382
HP:0001332HP:0012048Oromandibular dystonia3ARX CL E G H170302308350Epileptic encephalopathy, early infantile, 1308350C3463992OMIM181018060300382
HP:0001332HP:0000643Blepharospasm3ATM CL E G H472208900Ataxia-telangiectasia syndrome208900C0004135OMIM114692795607585
HP:0001332HP:0000473Torticollis3ATM CL E G H472208900Ataxia-telangiectasia syndrome208900C0004135OMIM114692795607585
HP:0001332HP:0031008Lingual dystonia3ATM CL E G H472208900Ataxia-telangiectasia syndrome208900C0004135OMIM114692795607585
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3ATM CL E G H472208900Ataxia-telangiectasia syndrome208900C0004135OMIM114692795607585
HP:0001332HP:0012048Oromandibular dystonia3ATM CL E G H472208900Ataxia-telangiectasia syndrome208900C0004135OMIM114692795607585
HP:0001332HP:0000643Blepharospasm3ATP13A2 CL E G H23400314632ORPHA197430213610513
HP:0001332HP:0000473Torticollis3ATP13A2 CL E G H23400314632ORPHA197430213610513
HP:0001332HP:0031008Lingual dystonia3ATP13A2 CL E G H23400314632ORPHA197430213610513
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3ATP13A2 CL E G H23400314632ORPHA197430213610513
HP:0001332HP:0012048Oromandibular dystonia3ATP13A2 CL E G H23400314632ORPHA197430213610513
HP:0001332HP:0000643Blepharospasm3ATP13A2 CL E G H23400513436ORPHA197430213610513
HP:0001332HP:0000473Torticollis3ATP13A2 CL E G H23400513436ORPHA197430213610513
HP:0001332HP:0031008Lingual dystonia3ATP13A2 CL E G H23400513436ORPHA197430213610513
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3ATP13A2 CL E G H23400513436ORPHA197430213610513
HP:0001332HP:0012048Oromandibular dystonia3ATP13A2 CL E G H23400513436ORPHA197430213610513
HP:0001332HP:0000643Blepharospasm3ATP1A2 CL E G H477104290Alternating hemiplegia of childhood 1104290C3549447OMIM11117800182340
HP:0001332HP:0000473Torticollis3ATP1A2 CL E G H477104290Alternating hemiplegia of childhood 1104290C3549447OMIM11117800182340
HP:0001332HP:0031008Lingual dystonia3ATP1A2 CL E G H477104290Alternating hemiplegia of childhood 1104290C3549447OMIM11117800182340
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3ATP1A2 CL E G H477104290Alternating hemiplegia of childhood 1104290C3549447OMIM11117800182340
HP:0001332HP:0012048Oromandibular dystonia3ATP1A2 CL E G H477104290Alternating hemiplegia of childhood 1104290C3549447OMIM11117800182340
HP:0001332HP:0000643Blepharospasm3ATP1A3 CL E G H478614820Alternating hemiplegia of childhood 2614820C3553788OMIM1993801182350
HP:0001332HP:0000473Torticollis3ATP1A3 CL E G H478614820Alternating hemiplegia of childhood 2614820C3553788OMIM1993801182350
HP:0001332HP:0031008Lingual dystonia3ATP1A3 CL E G H478614820Alternating hemiplegia of childhood 2614820C3553788OMIM1993801182350
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3ATP1A3 CL E G H478614820Alternating hemiplegia of childhood 2614820C3553788OMIM1993801182350
HP:0001332HP:0012048Oromandibular dystonia3ATP1A3 CL E G H478614820Alternating hemiplegia of childhood 2614820C3553788OMIM1993801182350
HP:0001332HP:0000643Blepharospasm3ATP1A3 CL E G H478601338Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss601338C1832466OMIM1993801182350
HP:0001332HP:0000473Torticollis3ATP1A3 CL E G H478601338Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss601338C1832466OMIM1993801182350
HP:0001332HP:0031008Lingual dystonia3ATP1A3 CL E G H478601338Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss601338C1832466OMIM1993801182350
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3ATP1A3 CL E G H478601338Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss601338C1832466OMIM1993801182350
HP:0001332HP:0012048Oromandibular dystonia3ATP1A3 CL E G H478601338Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss601338C1832466OMIM1993801182350
HP:0001332HP:0000643Blepharospasm3ATP7B CL E G H540277900Wilson disease277900C0019202OMIM12303870606882
HP:0001332HP:0000473Torticollis3ATP7B CL E G H540277900Wilson disease277900C0019202OMIM12303870606882
HP:0001332HP:0031008Lingual dystonia3ATP7B CL E G H540277900Wilson disease277900C0019202OMIM12303870606882
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3ATP7B CL E G H540277900Wilson disease277900C0019202OMIM12303870606882
HP:0001332HP:0012048Oromandibular dystonia3ATP7B CL E G H540277900Wilson disease277900C0019202OMIM12303870606882
HP:0001332HP:0000643Blepharospasm3ATXN1 CL E G H631098755ORPHA112010548601556
HP:0001332HP:0000473Torticollis3ATXN1 CL E G H631098755ORPHA112010548601556
HP:0001332HP:0031008Lingual dystonia3ATXN1 CL E G H631098755ORPHA112010548601556
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3ATXN1 CL E G H631098755ORPHA112010548601556
HP:0001332HP:0012048Oromandibular dystonia3ATXN1 CL E G H631098755ORPHA112010548601556
HP:0001332HP:0000643Blepharospasm3ATXN2 CL E G H631198756ORPHA111510555601517
HP:0001332HP:0000473Torticollis3ATXN2 CL E G H631198756ORPHA111510555601517
HP:0001332HP:0031008Lingual dystonia3ATXN2 CL E G H631198756ORPHA111510555601517
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3ATXN2 CL E G H631198756ORPHA111510555601517
HP:0001332HP:0012048Oromandibular dystonia3ATXN2 CL E G H631198756ORPHA111510555601517
HP:0001332HP:0000643Blepharospasm3ATXN3 CL E G H4287276238ORPHA1657106607047
HP:0001332HP:0000473Torticollis3ATXN3 CL E G H4287276238ORPHA1657106607047
HP:0001332HP:0031008Lingual dystonia3ATXN3 CL E G H4287276238ORPHA1657106607047
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3ATXN3 CL E G H4287276238ORPHA1657106607047
HP:0001332HP:0012048Oromandibular dystonia3ATXN3 CL E G H4287276238ORPHA1657106607047
HP:0001332HP:0000643Blepharospasm3ATXN3 CL E G H4287276241ORPHA1657106607047
HP:0001332HP:0000473Torticollis3ATXN3 CL E G H4287276241ORPHA1657106607047
HP:0001332HP:0031008Lingual dystonia3ATXN3 CL E G H4287276241ORPHA1657106607047
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3ATXN3 CL E G H4287276241ORPHA1657106607047
HP:0001332HP:0012048Oromandibular dystonia3ATXN3 CL E G H4287276241ORPHA1657106607047
HP:0001332HP:0000643Blepharospasm3ATXN3 CL E G H4287276244ORPHA1657106607047
HP:0001332HP:0000473Torticollis3ATXN3 CL E G H4287276244ORPHA1657106607047
HP:0001332HP:0031008Lingual dystonia3ATXN3 CL E G H4287276244ORPHA1657106607047
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3ATXN3 CL E G H4287276244ORPHA1657106607047
HP:0001332HP:0012048Oromandibular dystonia3ATXN3 CL E G H4287276244ORPHA1657106607047
HP:0001332HP:0000643Blepharospasm3ATXN8 CL E G H72406698760ORPHA1232925613289
HP:0001332HP:0000473Torticollis3ATXN8 CL E G H72406698760ORPHA1232925613289
HP:0001332HP:0031008Lingual dystonia3ATXN8 CL E G H72406698760ORPHA1232925613289
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3ATXN8 CL E G H72406698760ORPHA1232925613289
HP:0001332HP:0012048Oromandibular dystonia3ATXN8 CL E G H72406698760ORPHA1232925613289
HP:0001332HP:0000643Blepharospasm3ATXN8OS CL E G H631598760ORPHA18710561603680
HP:0001332HP:0000473Torticollis3ATXN8OS CL E G H631598760ORPHA18710561603680
HP:0001332HP:0031008Lingual dystonia3ATXN8OS CL E G H631598760ORPHA18710561603680
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3ATXN8OS CL E G H631598760ORPHA18710561603680
HP:0001332HP:0012048Oromandibular dystonia3ATXN8OS CL E G H631598760ORPHA18710561603680
HP:0001332HP:0000643Blepharospasm3AUH CL E G H5492509503-Methylglutaconic aciduria type 1250950C0342727OMIM1249890600529
HP:0001332HP:0000473Torticollis3AUH CL E G H5492509503-Methylglutaconic aciduria type 1250950C0342727OMIM1249890600529
HP:0001332HP:0031008Lingual dystonia3AUH CL E G H5492509503-Methylglutaconic aciduria type 1250950C0342727OMIM1249890600529
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3AUH CL E G H5492509503-Methylglutaconic aciduria type 1250950C0342727OMIM1249890600529
HP:0001332HP:0012048Oromandibular dystonia3AUH CL E G H5492509503-Methylglutaconic aciduria type 1250950C0342727OMIM1249890600529
HP:0001332HP:0000643Blepharospasm3B4GALNT1 CL E G H2583609195Spastic paraplegia 26609195C1836632OMIM12954117601873
HP:0001332HP:0000473Torticollis3B4GALNT1 CL E G H2583609195Spastic paraplegia 26609195C1836632OMIM12954117601873
HP:0001332HP:0031008Lingual dystonia3B4GALNT1 CL E G H2583609195Spastic paraplegia 26609195C1836632OMIM12954117601873
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3B4GALNT1 CL E G H2583609195Spastic paraplegia 26609195C1836632OMIM12954117601873
HP:0001332HP:0012048Oromandibular dystonia3B4GALNT1 CL E G H2583609195Spastic paraplegia 26609195C1836632OMIM12954117601873
HP:0001332HP:0000643Blepharospasm3BCAP31 CL E G H10134300475Chromosome Xq28 deletion syndrome300475C1845408OMIM137516695300398
HP:0001332HP:0000473Torticollis3BCAP31 CL E G H10134300475Chromosome Xq28 deletion syndrome300475C1845408OMIM137516695300398
HP:0001332HP:0031008Lingual dystonia3BCAP31 CL E G H10134300475Chromosome Xq28 deletion syndrome300475C1845408OMIM137516695300398
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3BCAP31 CL E G H10134300475Chromosome Xq28 deletion syndrome300475C1845408OMIM137516695300398
HP:0001332HP:0012048Oromandibular dystonia3BCAP31 CL E G H10134300475Chromosome Xq28 deletion syndrome300475C1845408OMIM137516695300398
HP:0001332HP:0000643Blepharospasm3BCS1L CL E G H617256000Leigh syndrome256000C0023264OMIM14131020603647
HP:0001332HP:0000473Torticollis3BCS1L CL E G H617256000Leigh syndrome256000C0023264OMIM14131020603647
HP:0001332HP:0031008Lingual dystonia3BCS1L CL E G H617256000Leigh syndrome256000C0023264OMIM14131020603647
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3BCS1L CL E G H617256000Leigh syndrome256000C0023264OMIM14131020603647
HP:0001332HP:0012048Oromandibular dystonia3BCS1L CL E G H617256000Leigh syndrome256000C0023264OMIM14131020603647
HP:0001332HP:0000643Blepharospasm3BSCL2 CL E G H26580615924Encephalopathy, progressive, with or without lipodystrophy615924C4014700OMIM151015832606158
HP:0001332HP:0000473Torticollis3BSCL2 CL E G H26580615924Encephalopathy, progressive, with or without lipodystrophy615924C4014700OMIM151015832606158
HP:0001332HP:0031008Lingual dystonia3BSCL2 CL E G H26580615924Encephalopathy, progressive, with or without lipodystrophy615924C4014700OMIM151015832606158
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3BSCL2 CL E G H26580615924Encephalopathy, progressive, with or without lipodystrophy615924C4014700OMIM151015832606158
HP:0001332HP:0012048Oromandibular dystonia3BSCL2 CL E G H26580615924Encephalopathy, progressive, with or without lipodystrophy615924C4014700OMIM151015832606158
HP:0001332HP:0000643Blepharospasm3C19orf12 CL E G H83636289560ORPHA130725443614297
HP:0001332HP:0000473Torticollis3C19orf12 CL E G H83636289560ORPHA130725443614297
HP:0001332HP:0031008Lingual dystonia3C19orf12 CL E G H83636289560ORPHA130725443614297
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3C19orf12 CL E G H83636289560ORPHA130725443614297
HP:0001332HP:0012048Oromandibular dystonia3C19orf12 CL E G H83636289560ORPHA130725443614297
HP:0001332HP:0000643Blepharospasm3CACNA1A CL E G H773108500Episodic ataxia type 2108500C1720416OMIM132481388601011
HP:0001332HP:0000473Torticollis3CACNA1A CL E G H773108500Episodic ataxia type 2108500C1720416OMIM132481388601011
HP:0001332HP:0031008Lingual dystonia3CACNA1A CL E G H773108500Episodic ataxia type 2108500C1720416OMIM132481388601011
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3CACNA1A CL E G H773108500Episodic ataxia type 2108500C1720416OMIM132481388601011
HP:0001332HP:0012048Oromandibular dystonia3CACNA1A CL E G H773108500Episodic ataxia type 2108500C1720416OMIM132481388601011
HP:0001332HP:0000643Blepharospasm3CACNA1E CL E G H777618285618285618285OMIM115831392601013
HP:0001332HP:0000473Torticollis3CACNA1E CL E G H777618285618285618285OMIM115831392601013
HP:0001332HP:0031008Lingual dystonia3CACNA1E CL E G H777618285618285618285OMIM115831392601013
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3CACNA1E CL E G H777618285618285618285OMIM115831392601013
HP:0001332HP:0012048Oromandibular dystonia3CACNA1E CL E G H777618285618285618285OMIM115831392601013
HP:0001332HP:0000643Blepharospasm3CACNA1G CL E G H8913618087SPINOCEREBELLAR ATAXIA 42, EARLY-ONSET, SEVERE, WITH NEURODEVELOPMENTAL DEFICITS618087CN252698OMIM18221394604065
HP:0001332HP:0000473Torticollis3CACNA1G CL E G H8913618087SPINOCEREBELLAR ATAXIA 42, EARLY-ONSET, SEVERE, WITH NEURODEVELOPMENTAL DEFICITS618087CN252698OMIM18221394604065
HP:0001332HP:0031008Lingual dystonia3CACNA1G CL E G H8913618087SPINOCEREBELLAR ATAXIA 42, EARLY-ONSET, SEVERE, WITH NEURODEVELOPMENTAL DEFICITS618087CN252698OMIM18221394604065
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3CACNA1G CL E G H8913618087SPINOCEREBELLAR ATAXIA 42, EARLY-ONSET, SEVERE, WITH NEURODEVELOPMENTAL DEFICITS618087CN252698OMIM18221394604065
HP:0001332HP:0012048Oromandibular dystonia3CACNA1G CL E G H8913618087SPINOCEREBELLAR ATAXIA 42, EARLY-ONSET, SEVERE, WITH NEURODEVELOPMENTAL DEFICITS618087CN252698OMIM18221394604065
HP:0001332HP:0000643Blepharospasm3CARS2 CL E G H79587616672Combined oxidative phosphorylation deficiency 27616672C4225251OMIM182525695612800
HP:0001332HP:0000473Torticollis3CARS2 CL E G H79587616672Combined oxidative phosphorylation deficiency 27616672C4225251OMIM182525695612800
HP:0001332HP:0031008Lingual dystonia3CARS2 CL E G H79587616672Combined oxidative phosphorylation deficiency 27616672C4225251OMIM182525695612800
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3CARS2 CL E G H79587616672Combined oxidative phosphorylation deficiency 27616672C4225251OMIM182525695612800
HP:0001332HP:0012048Oromandibular dystonia3CARS2 CL E G H79587616672Combined oxidative phosphorylation deficiency 27616672C4225251OMIM182525695612800
HP:0001332HP:0000643Blepharospasm3CHMP2B CL E G H25978600795Frontotemporal Dementia, Chromosome 3-Linked600795C1833296OMIM116024537609512
HP:0001332HP:0000473Torticollis3CHMP2B CL E G H25978600795Frontotemporal Dementia, Chromosome 3-Linked600795C1833296OMIM116024537609512
HP:0001332HP:0031008Lingual dystonia3CHMP2B CL E G H25978600795Frontotemporal Dementia, Chromosome 3-Linked600795C1833296OMIM116024537609512
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3CHMP2B CL E G H25978600795Frontotemporal Dementia, Chromosome 3-Linked600795C1833296OMIM116024537609512
HP:0001332HP:0012048Oromandibular dystonia3CHMP2B CL E G H25978600795Frontotemporal Dementia, Chromosome 3-Linked600795C1833296OMIM116024537609512
HP:0001332HP:0000643Blepharospasm3CHRNA2 CL E G H1135610353Epilepsy, nocturnal frontal lobe, type 4610353C1835905OMIM17321956118502
HP:0001332HP:0000473Torticollis3CHRNA2 CL E G H1135610353Epilepsy, nocturnal frontal lobe, type 4610353C1835905OMIM17321956118502
HP:0001332HP:0031008Lingual dystonia3CHRNA2 CL E G H1135610353Epilepsy, nocturnal frontal lobe, type 4610353C1835905OMIM17321956118502
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3CHRNA2 CL E G H1135610353Epilepsy, nocturnal frontal lobe, type 4610353C1835905OMIM17321956118502
HP:0001332HP:0012048Oromandibular dystonia3CHRNA2 CL E G H1135610353Epilepsy, nocturnal frontal lobe, type 4610353C1835905OMIM17321956118502
HP:0001332HP:0000643Blepharospasm3CKAP2L CL E G H150468272440Filippi syndrome272440C0795940OMIM116826877616174
HP:0001332HP:0000473Torticollis3CKAP2L CL E G H150468272440Filippi syndrome272440C0795940OMIM116826877616174
HP:0001332HP:0031008Lingual dystonia3CKAP2L CL E G H150468272440Filippi syndrome272440C0795940OMIM116826877616174
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3CKAP2L CL E G H150468272440Filippi syndrome272440C0795940OMIM116826877616174
HP:0001332HP:0012048Oromandibular dystonia3CKAP2L CL E G H150468272440Filippi syndrome272440C0795940OMIM116826877616174
HP:0001332HP:0000643Blepharospasm3CNTNAP1 CL E G H8506618186Congenital hypomyelinating neuropathy 3618186OMIM14258011602346
HP:0001332HP:0000473Torticollis3CNTNAP1 CL E G H8506618186Congenital hypomyelinating neuropathy 3618186OMIM14258011602346
HP:0001332HP:0031008Lingual dystonia3CNTNAP1 CL E G H8506618186Congenital hypomyelinating neuropathy 3618186OMIM14258011602346
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3CNTNAP1 CL E G H8506618186Congenital hypomyelinating neuropathy 3618186OMIM14258011602346
HP:0001332HP:0012048Oromandibular dystonia3CNTNAP1 CL E G H8506618186Congenital hypomyelinating neuropathy 3618186OMIM14258011602346
HP:0001332HP:0000643Blepharospasm3COQ9 CL E G H57017614654Coenzyme Q10 deficiency, primary, 5614654C3553374OMIM127625302612837
HP:0001332HP:0000473Torticollis3COQ9 CL E G H57017614654Coenzyme Q10 deficiency, primary, 5614654C3553374OMIM127625302612837
HP:0001332HP:0031008Lingual dystonia3COQ9 CL E G H57017614654Coenzyme Q10 deficiency, primary, 5614654C3553374OMIM127625302612837
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3COQ9 CL E G H57017614654Coenzyme Q10 deficiency, primary, 5614654C3553374OMIM127625302612837
HP:0001332HP:0012048Oromandibular dystonia3COQ9 CL E G H57017614654Coenzyme Q10 deficiency, primary, 5614654C3553374OMIM127625302612837
HP:0001332HP:0000643Blepharospasm3COX10 CL E G H1352256000Leigh syndrome256000C0023264OMIM13562260602125
HP:0001332HP:0000473Torticollis3COX10 CL E G H1352256000Leigh syndrome256000C0023264OMIM13562260602125
HP:0001332HP:0031008Lingual dystonia3COX10 CL E G H1352256000Leigh syndrome256000C0023264OMIM13562260602125
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3COX10 CL E G H1352256000Leigh syndrome256000C0023264OMIM13562260602125
HP:0001332HP:0012048Oromandibular dystonia3COX10 CL E G H1352256000Leigh syndrome256000C0023264OMIM13562260602125
HP:0001332HP:0000643Blepharospasm3COX15 CL E G H1355255241ORPHA13572263603646
HP:0001332HP:0000473Torticollis3COX15 CL E G H1355255241ORPHA13572263603646
HP:0001332HP:0031008Lingual dystonia3COX15 CL E G H1355255241ORPHA13572263603646
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3COX15 CL E G H1355255241ORPHA13572263603646
HP:0001332HP:0012048Oromandibular dystonia3COX15 CL E G H1355255241ORPHA13572263603646
HP:0001332HP:0000643Blepharospasm3COX15 CL E G H1355256000Leigh syndrome256000C0023264OMIM13572263603646
HP:0001332HP:0000473Torticollis3COX15 CL E G H1355256000Leigh syndrome256000C0023264OMIM13572263603646
HP:0001332HP:0031008Lingual dystonia3COX15 CL E G H1355256000Leigh syndrome256000C0023264OMIM13572263603646
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3COX15 CL E G H1355256000Leigh syndrome256000C0023264OMIM13572263603646
HP:0001332HP:0012048Oromandibular dystonia3COX15 CL E G H1355256000Leigh syndrome256000C0023264OMIM13572263603646
HP:0001332HP:0000643Blepharospasm3CTC1 CL E G H80169612199Cerebroretinal microangiopathy with calcifications and cysts 1612199C2677299OMIM1129226169613129
HP:0001332HP:0000473Torticollis3CTC1 CL E G H80169612199Cerebroretinal microangiopathy with calcifications and cysts 1612199C2677299OMIM1129226169613129
HP:0001332HP:0031008Lingual dystonia3CTC1 CL E G H80169612199Cerebroretinal microangiopathy with calcifications and cysts 1612199C2677299OMIM1129226169613129
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3CTC1 CL E G H80169612199Cerebroretinal microangiopathy with calcifications and cysts 1612199C2677299OMIM1129226169613129
HP:0001332HP:0012048Oromandibular dystonia3CTC1 CL E G H80169612199Cerebroretinal microangiopathy with calcifications and cysts 1612199C2677299OMIM1129226169613129
HP:0001332HP:0000643Blepharospasm3CWF19L1 CL E G H55280453521ORPHA110025613616120
HP:0001332HP:0000473Torticollis3CWF19L1 CL E G H55280453521ORPHA110025613616120
HP:0001332HP:0031008Lingual dystonia3CWF19L1 CL E G H55280453521ORPHA110025613616120
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3CWF19L1 CL E G H55280453521ORPHA110025613616120
HP:0001332HP:0012048Oromandibular dystonia3CWF19L1 CL E G H55280453521ORPHA110025613616120
HP:0001332HP:0000643Blepharospasm3CYP27A1 CL E G H1593909ORPHA19402605606530
HP:0001332HP:0000473Torticollis3CYP27A1 CL E G H1593909ORPHA19402605606530
HP:0001332HP:0031008Lingual dystonia3CYP27A1 CL E G H1593909ORPHA19402605606530
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3CYP27A1 CL E G H1593909ORPHA19402605606530
HP:0001332HP:0012048Oromandibular dystonia3CYP27A1 CL E G H1593909ORPHA19402605606530
HP:0001332HP:0000643Blepharospasm3DCAF17 CL E G H800673464ORPHA136625784612515
HP:0001332HP:0000473Torticollis3DCAF17 CL E G H800673464ORPHA136625784612515
HP:0001332HP:0031008Lingual dystonia3DCAF17 CL E G H800673464ORPHA136625784612515
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3DCAF17 CL E G H800673464ORPHA136625784612515
HP:0001332HP:0012048Oromandibular dystonia3DCAF17 CL E G H800673464ORPHA136625784612515
HP:0001332HP:0000643Blepharospasm3DCAF17 CL E G H80067241080Hypogonadism, diabetes mellitus, alopecia, mental retardation and electrocardiographic abnormalities241080C0342286OMIM136625784612515
HP:0001332HP:0000473Torticollis3DCAF17 CL E G H80067241080Hypogonadism, diabetes mellitus, alopecia, mental retardation and electrocardiographic abnormalities241080C0342286OMIM136625784612515
HP:0001332HP:0031008Lingual dystonia3DCAF17 CL E G H80067241080Hypogonadism, diabetes mellitus, alopecia, mental retardation and electrocardiographic abnormalities241080C0342286OMIM136625784612515
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3DCAF17 CL E G H80067241080Hypogonadism, diabetes mellitus, alopecia, mental retardation and electrocardiographic abnormalities241080C0342286OMIM136625784612515
HP:0001332HP:0012048Oromandibular dystonia3DCAF17 CL E G H80067241080Hypogonadism, diabetes mellitus, alopecia, mental retardation and electrocardiographic abnormalities241080C0342286OMIM136625784612515
HP:0001332HP:0000643Blepharospasm3DHDDS CL E G H79947617836DEVELOPMENTAL DELAY AND SEIZURES WITH OR WITHOUT MOVEMENT ABNORMALITIES617836CN769090OMIM143420603608172
HP:0001332HP:0000473Torticollis3DHDDS CL E G H79947617836DEVELOPMENTAL DELAY AND SEIZURES WITH OR WITHOUT MOVEMENT ABNORMALITIES617836CN769090OMIM143420603608172
HP:0001332HP:0031008Lingual dystonia3DHDDS CL E G H79947617836DEVELOPMENTAL DELAY AND SEIZURES WITH OR WITHOUT MOVEMENT ABNORMALITIES617836CN769090OMIM143420603608172
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3DHDDS CL E G H79947617836DEVELOPMENTAL DELAY AND SEIZURES WITH OR WITHOUT MOVEMENT ABNORMALITIES617836CN769090OMIM143420603608172
HP:0001332HP:0012048Oromandibular dystonia3DHDDS CL E G H79947617836DEVELOPMENTAL DELAY AND SEIZURES WITH OR WITHOUT MOVEMENT ABNORMALITIES617836CN769090OMIM143420603608172
HP:0001332HP:0000643Blepharospasm3DHX30 CL E G H22907617804NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT AND ABSENT LANGUAGE617804C4540496OMIM116216716616423
HP:0001332HP:0000473Torticollis3DHX30 CL E G H22907617804NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT AND ABSENT LANGUAGE617804C4540496OMIM116216716616423
HP:0001332HP:0031008Lingual dystonia3DHX30 CL E G H22907617804NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT AND ABSENT LANGUAGE617804C4540496OMIM116216716616423
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3DHX30 CL E G H22907617804NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT AND ABSENT LANGUAGE617804C4540496OMIM116216716616423
HP:0001332HP:0012048Oromandibular dystonia3DHX30 CL E G H22907617804NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT AND ABSENT LANGUAGE617804C4540496OMIM116216716616423
HP:0001332HP:0000643Blepharospasm3DLD CL E G H1738246900Maple syrup urine disease, type 3246900CN043137OMIM15202898238331
HP:0001332HP:0000473Torticollis3DLD CL E G H1738246900Maple syrup urine disease, type 3246900CN043137OMIM15202898238331
HP:0001332HP:0031008Lingual dystonia3DLD CL E G H1738246900Maple syrup urine disease, type 3246900CN043137OMIM15202898238331
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3DLD CL E G H1738246900Maple syrup urine disease, type 3246900CN043137OMIM15202898238331
HP:0001332HP:0012048Oromandibular dystonia3DLD CL E G H1738246900Maple syrup urine disease, type 3246900CN043137OMIM15202898238331
HP:0001332HP:0000643Blepharospasm3DMXL2 CL E G H23312616113Polyendocrine-polyneuropathy syndrome616113C4015261OMIM112162938612186
HP:0001332HP:0000473Torticollis3DMXL2 CL E G H23312616113Polyendocrine-polyneuropathy syndrome616113C4015261OMIM112162938612186
HP:0001332HP:0031008Lingual dystonia3DMXL2 CL E G H23312616113Polyendocrine-polyneuropathy syndrome616113C4015261OMIM112162938612186
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3DMXL2 CL E G H23312616113Polyendocrine-polyneuropathy syndrome616113C4015261OMIM112162938612186
HP:0001332HP:0012048Oromandibular dystonia3DMXL2 CL E G H23312616113Polyendocrine-polyneuropathy syndrome616113C4015261OMIM112162938612186
HP:0001332HP:0000643Blepharospasm3DNAJC6 CL E G H9829391411ORPHA131015469608375
HP:0001332HP:0000473Torticollis3DNAJC6 CL E G H9829391411ORPHA131015469608375
HP:0001332HP:0031008Lingual dystonia3DNAJC6 CL E G H9829391411ORPHA131015469608375
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3DNAJC6 CL E G H9829391411ORPHA131015469608375
HP:0001332HP:0012048Oromandibular dystonia3DNAJC6 CL E G H9829391411ORPHA131015469608375
HP:0001332HP:0000643Blepharospasm3EARS2 CL E G H124454614924Combined oxidative phosphorylation deficiency 12614924C3554079OMIM133629419612799
HP:0001332HP:0000473Torticollis3EARS2 CL E G H124454614924Combined oxidative phosphorylation deficiency 12614924C3554079OMIM133629419612799
HP:0001332HP:0031008Lingual dystonia3EARS2 CL E G H124454614924Combined oxidative phosphorylation deficiency 12614924C3554079OMIM133629419612799
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3EARS2 CL E G H124454614924Combined oxidative phosphorylation deficiency 12614924C3554079OMIM133629419612799
HP:0001332HP:0012048Oromandibular dystonia3EARS2 CL E G H124454614924Combined oxidative phosphorylation deficiency 12614924C3554079OMIM133629419612799
HP:0001332HP:0000643Blepharospasm3ECHS1 CL E G H1892255241ORPHA14313151602292
HP:0001332HP:0000473Torticollis3ECHS1 CL E G H1892255241ORPHA14313151602292
HP:0001332HP:0031008Lingual dystonia3ECHS1 CL E G H1892255241ORPHA14313151602292
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3ECHS1 CL E G H1892255241ORPHA14313151602292
HP:0001332HP:0012048Oromandibular dystonia3ECHS1 CL E G H1892255241ORPHA14313151602292
HP:0001332HP:0000643Blepharospasm3ECHS1 CL E G H1892616277Mitochondrial short-chain enoyl-coa hydratase 1 deficiency616277C4225391OMIM14313151602292
HP:0001332HP:0000473Torticollis3ECHS1 CL E G H1892616277Mitochondrial short-chain enoyl-coa hydratase 1 deficiency616277C4225391OMIM14313151602292
HP:0001332HP:0031008Lingual dystonia3ECHS1 CL E G H1892616277Mitochondrial short-chain enoyl-coa hydratase 1 deficiency616277C4225391OMIM14313151602292
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3ECHS1 CL E G H1892616277Mitochondrial short-chain enoyl-coa hydratase 1 deficiency616277C4225391OMIM14313151602292
HP:0001332HP:0012048Oromandibular dystonia3ECHS1 CL E G H1892616277Mitochondrial short-chain enoyl-coa hydratase 1 deficiency616277C4225391OMIM14313151602292
HP:0001332HP:0000643Blepharospasm3ECM1 CL E G H1893530Acute myeloblastic leukemia type 5ORPHA11063153602201
HP:0001332HP:0000473Torticollis3ECM1 CL E G H1893530Acute myeloblastic leukemia type 5ORPHA11063153602201
HP:0001332HP:0031008Lingual dystonia3ECM1 CL E G H1893530Acute myeloblastic leukemia type 5ORPHA11063153602201
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3ECM1 CL E G H1893530Acute myeloblastic leukemia type 5ORPHA11063153602201
HP:0001332HP:0012048Oromandibular dystonia3ECM1 CL E G H1893530Acute myeloblastic leukemia type 5ORPHA11063153602201
HP:0001332HP:0000643Blepharospasm3EPRS CL E G H2058617951LEUKODYSTROPHY, HYPOMYELINATING, 15617951CN244566OMIM13418138295
HP:0001332HP:0000473Torticollis3EPRS CL E G H2058617951LEUKODYSTROPHY, HYPOMYELINATING, 15617951CN244566OMIM13418138295
HP:0001332HP:0031008Lingual dystonia3EPRS CL E G H2058617951LEUKODYSTROPHY, HYPOMYELINATING, 15617951CN244566OMIM13418138295
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3EPRS CL E G H2058617951LEUKODYSTROPHY, HYPOMYELINATING, 15617951CN244566OMIM13418138295
HP:0001332HP:0012048Oromandibular dystonia3EPRS CL E G H2058617951LEUKODYSTROPHY, HYPOMYELINATING, 15617951CN244566OMIM13418138295
HP:0001332HP:0000643Blepharospasm3FA2H CL E G H79152612319Spastic paraplegia 35612319C3668943OMIM138121197611026
HP:0001332HP:0000473Torticollis3FA2H CL E G H79152612319Spastic paraplegia 35612319C3668943OMIM138121197611026
HP:0001332HP:0031008Lingual dystonia3FA2H CL E G H79152612319Spastic paraplegia 35612319C3668943OMIM138121197611026
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3FA2H CL E G H79152612319Spastic paraplegia 35612319C3668943OMIM138121197611026
HP:0001332HP:0012048Oromandibular dystonia3FA2H CL E G H79152612319Spastic paraplegia 35612319C3668943OMIM138121197611026
HP:0001332HP:0000643Blepharospasm3FBXO7 CL E G H25793171695ORPHA124313586605648
HP:0001332HP:0000473Torticollis3FBXO7 CL E G H25793171695ORPHA124313586605648
HP:0001332HP:0031008Lingual dystonia3FBXO7 CL E G H25793171695ORPHA124313586605648
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3FBXO7 CL E G H25793171695ORPHA124313586605648
HP:0001332HP:0012048Oromandibular dystonia3FBXO7 CL E G H25793171695ORPHA124313586605648
HP:0001332HP:0000643Blepharospasm3FBXO7 CL E G H25793260300Parkinson disease 15260300C1850100OMIM124313586605648
HP:0001332HP:0000473Torticollis3FBXO7 CL E G H25793260300Parkinson disease 15260300C1850100OMIM124313586605648
HP:0001332HP:0031008Lingual dystonia3FBXO7 CL E G H25793260300Parkinson disease 15260300C1850100OMIM124313586605648
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3FBXO7 CL E G H25793260300Parkinson disease 15260300C1850100OMIM124313586605648
HP:0001332HP:0012048Oromandibular dystonia3FBXO7 CL E G H25793260300Parkinson disease 15260300C1850100OMIM124313586605648
HP:0001332HP:0000643Blepharospasm3FOXG1 CL E G H2290613454Rett syndrome, congenital variant613454C3150705OMIM17253811164874
HP:0001332HP:0000473Torticollis3FOXG1 CL E G H2290613454Rett syndrome, congenital variant613454C3150705OMIM17253811164874
HP:0001332HP:0031008Lingual dystonia3FOXG1 CL E G H2290613454Rett syndrome, congenital variant613454C3150705OMIM17253811164874
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3FOXG1 CL E G H2290613454Rett syndrome, congenital variant613454C3150705OMIM17253811164874
HP:0001332HP:0012048Oromandibular dystonia3FOXG1 CL E G H2290613454Rett syndrome, congenital variant613454C3150705OMIM17253811164874
HP:0001332HP:0000643Blepharospasm3FOXRED1 CL E G H55572255241ORPHA132326927613622
HP:0001332HP:0000473Torticollis3FOXRED1 CL E G H55572255241ORPHA132326927613622
HP:0001332HP:0031008Lingual dystonia3FOXRED1 CL E G H55572255241ORPHA132326927613622
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3FOXRED1 CL E G H55572255241ORPHA132326927613622
HP:0001332HP:0012048Oromandibular dystonia3FOXRED1 CL E G H55572255241ORPHA132326927613622
HP:0001332HP:0000643Blepharospasm3FTL CL E G H2512157846ORPHA11853999134790
HP:0001332HP:0000473Torticollis3FTL CL E G H2512157846ORPHA11853999134790
HP:0001332HP:0031008Lingual dystonia3FTL CL E G H2512157846ORPHA11853999134790
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3FTL CL E G H2512157846ORPHA11853999134790
HP:0001332HP:0012048Oromandibular dystonia3FTL CL E G H2512157846ORPHA11853999134790
HP:0001332HP:0000643Blepharospasm3GABBR2 CL E G H9568617903NEURODEVELOPMENTAL DISORDER WITH POOR LANGUAGE AND LOSS OF HAND SKILLS617903CN870852OMIM18484507607340
HP:0001332HP:0000473Torticollis3GABBR2 CL E G H9568617903NEURODEVELOPMENTAL DISORDER WITH POOR LANGUAGE AND LOSS OF HAND SKILLS617903CN870852OMIM18484507607340
HP:0001332HP:0031008Lingual dystonia3GABBR2 CL E G H9568617903NEURODEVELOPMENTAL DISORDER WITH POOR LANGUAGE AND LOSS OF HAND SKILLS617903CN870852OMIM18484507607340
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3GABBR2 CL E G H9568617903NEURODEVELOPMENTAL DISORDER WITH POOR LANGUAGE AND LOSS OF HAND SKILLS617903CN870852OMIM18484507607340
HP:0001332HP:0012048Oromandibular dystonia3GABBR2 CL E G H9568617903NEURODEVELOPMENTAL DISORDER WITH POOR LANGUAGE AND LOSS OF HAND SKILLS617903CN870852OMIM18484507607340
HP:0001332HP:0000643Blepharospasm3GABRB2 CL E G H2561617829EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 2617829CN757794OMIM14944082600232
HP:0001332HP:0000473Torticollis3GABRB2 CL E G H2561617829EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 2617829CN757794OMIM14944082600232
HP:0001332HP:0031008Lingual dystonia3GABRB2 CL E G H2561617829EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 2617829CN757794OMIM14944082600232
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3GABRB2 CL E G H2561617829EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 2617829CN757794OMIM14944082600232
HP:0001332HP:0012048Oromandibular dystonia3GABRB2 CL E G H2561617829EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 2617829CN757794OMIM14944082600232
HP:0001332HP:0000643Blepharospasm3GBA CL E G H262977260ORPHA14177606463
HP:0001332HP:0000473Torticollis3GBA CL E G H262977260ORPHA14177606463
HP:0001332HP:0031008Lingual dystonia3GBA CL E G H262977260ORPHA14177606463
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3GBA CL E G H262977260ORPHA14177606463
HP:0001332HP:0012048Oromandibular dystonia3GBA CL E G H262977260ORPHA14177606463
HP:0001332HP:0000643Blepharospasm3GCDH CL E G H263925ORPHA17204189608801
HP:0001332HP:0000473Torticollis3GCDH CL E G H263925ORPHA17204189608801
HP:0001332HP:0031008Lingual dystonia3GCDH CL E G H263925ORPHA17204189608801
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3GCDH CL E G H263925ORPHA17204189608801
HP:0001332HP:0012048Oromandibular dystonia3GCDH CL E G H263925ORPHA17204189608801
HP:0001332HP:0000643Blepharospasm3GCDH CL E G H2639231670Glutaric aciduria, type 1231670C0268595OMIM17204189608801
HP:0001332HP:0000473Torticollis3GCDH CL E G H2639231670Glutaric aciduria, type 1231670C0268595OMIM17204189608801
HP:0001332HP:0031008Lingual dystonia3GCDH CL E G H2639231670Glutaric aciduria, type 1231670C0268595OMIM17204189608801
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3GCDH CL E G H2639231670Glutaric aciduria, type 1231670C0268595OMIM17204189608801
HP:0001332HP:0012048Oromandibular dystonia3GCDH CL E G H2639231670Glutaric aciduria, type 1231670C0268595OMIM17204189608801
HP:0001332HP:0000643Blepharospasm3GCH1 CL E G H2643233910GTP cyclohydrolase I deficiency233910C0268467OMIM14284193600225
HP:0001332HP:0000473Torticollis3GCH1 CL E G H2643233910GTP cyclohydrolase I deficiency233910C0268467OMIM14284193600225
HP:0001332HP:0031008Lingual dystonia3GCH1 CL E G H2643233910GTP cyclohydrolase I deficiency233910C0268467OMIM14284193600225
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3GCH1 CL E G H2643233910GTP cyclohydrolase I deficiency233910C0268467OMIM14284193600225
HP:0001332HP:0012048Oromandibular dystonia3GCH1 CL E G H2643233910GTP cyclohydrolase I deficiency233910C0268467OMIM14284193600225
HP:0001332HP:0000643Blepharospasm3GJC2 CL E G H57165608804Leukodystrophy, hypomyelinating, 2608804C1837355OMIM132317494608803
HP:0001332HP:0000473Torticollis3GJC2 CL E G H57165608804Leukodystrophy, hypomyelinating, 2608804C1837355OMIM132317494608803
HP:0001332HP:0031008Lingual dystonia3GJC2 CL E G H57165608804Leukodystrophy, hypomyelinating, 2608804C1837355OMIM132317494608803
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3GJC2 CL E G H57165608804Leukodystrophy, hypomyelinating, 2608804C1837355OMIM132317494608803
HP:0001332HP:0012048Oromandibular dystonia3GJC2 CL E G H57165608804Leukodystrophy, hypomyelinating, 2608804C1837355OMIM132317494608803
HP:0001332HP:0000643Blepharospasm3GLB1 CL E G H2720230650Gangliosidosis GM1 type 3230650C0268273OMIM19374298611458
HP:0001332HP:0000473Torticollis3GLB1 CL E G H2720230650Gangliosidosis GM1 type 3230650C0268273OMIM19374298611458
HP:0001332HP:0031008Lingual dystonia3GLB1 CL E G H2720230650Gangliosidosis GM1 type 3230650C0268273OMIM19374298611458
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3GLB1 CL E G H2720230650Gangliosidosis GM1 type 3230650C0268273OMIM19374298611458
HP:0001332HP:0012048Oromandibular dystonia3GLB1 CL E G H2720230650Gangliosidosis GM1 type 3230650C0268273OMIM19374298611458
HP:0001332HP:0000643Blepharospasm3GM2A CL E G H2760309246ORPHA12124367613109
HP:0001332HP:0000473Torticollis3GM2A CL E G H2760309246ORPHA12124367613109
HP:0001332HP:0031008Lingual dystonia3GM2A CL E G H2760309246ORPHA12124367613109
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3GM2A CL E G H2760309246ORPHA12124367613109
HP:0001332HP:0012048Oromandibular dystonia3GM2A CL E G H2760309246ORPHA12124367613109
HP:0001332HP:0000643Blepharospasm3GM2A CL E G H2760272750Tay-Sachs disease, variant AB272750C0268275OMIM12124367613109
HP:0001332HP:0000473Torticollis3GM2A CL E G H2760272750Tay-Sachs disease, variant AB272750C0268275OMIM12124367613109
HP:0001332HP:0031008Lingual dystonia3GM2A CL E G H2760272750Tay-Sachs disease, variant AB272750C0268275OMIM12124367613109
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3GM2A CL E G H2760272750Tay-Sachs disease, variant AB272750C0268275OMIM12124367613109
HP:0001332HP:0012048Oromandibular dystonia3GM2A CL E G H2760272750Tay-Sachs disease, variant AB272750C0268275OMIM12124367613109
HP:0001332HP:0000643Blepharospasm3GNAO1 CL E G H2775617493Neurodevelopmental disorder with involuntary movements617493C4479569OMIM14294389139311
HP:0001332HP:0000473Torticollis3GNAO1 CL E G H2775617493Neurodevelopmental disorder with involuntary movements617493C4479569OMIM14294389139311
HP:0001332HP:0031008Lingual dystonia3GNAO1 CL E G H2775617493Neurodevelopmental disorder with involuntary movements617493C4479569OMIM14294389139311
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3GNAO1 CL E G H2775617493Neurodevelopmental disorder with involuntary movements617493C4479569OMIM14294389139311
HP:0001332HP:0012048Oromandibular dystonia3GNAO1 CL E G H2775617493Neurodevelopmental disorder with involuntary movements617493C4479569OMIM14294389139311
HP:0001332HP:0000643Blepharospasm3GRIN1 CL E G H2902617820NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE617820CN737161OMIM19294584138249
HP:0001332HP:0000473Torticollis3GRIN1 CL E G H2902617820NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE617820CN737161OMIM19294584138249
HP:0001332HP:0031008Lingual dystonia3GRIN1 CL E G H2902617820NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE617820CN737161OMIM19294584138249
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3GRIN1 CL E G H2902617820NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE617820CN737161OMIM19294584138249
HP:0001332HP:0012048Oromandibular dystonia3GRIN1 CL E G H2902617820NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE617820CN737161OMIM19294584138249
HP:0001332HP:0000643Blepharospasm3GRIN2B CL E G H2904616139Epileptic encephalopathy, early infantile, 27616139C4015316OMIM113534586138252
HP:0001332HP:0000473Torticollis3GRIN2B CL E G H2904616139Epileptic encephalopathy, early infantile, 27616139C4015316OMIM113534586138252
HP:0001332HP:0031008Lingual dystonia3GRIN2B CL E G H2904616139Epileptic encephalopathy, early infantile, 27616139C4015316OMIM113534586138252
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3GRIN2B CL E G H2904616139Epileptic encephalopathy, early infantile, 27616139C4015316OMIM113534586138252
HP:0001332HP:0012048Oromandibular dystonia3GRIN2B CL E G H2904616139Epileptic encephalopathy, early infantile, 27616139C4015316OMIM113534586138252
HP:0001332HP:0000643Blepharospasm3GRIN2B CL E G H2904613970Mental retardation, autosomal dominant 6613970C3151411OMIM113534586138252
HP:0001332HP:0000473Torticollis3GRIN2B CL E G H2904613970Mental retardation, autosomal dominant 6613970C3151411OMIM113534586138252
HP:0001332HP:0031008Lingual dystonia3GRIN2B CL E G H2904613970Mental retardation, autosomal dominant 6613970C3151411OMIM113534586138252
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3GRIN2B CL E G H2904613970Mental retardation, autosomal dominant 6613970C3151411OMIM113534586138252
HP:0001332HP:0012048Oromandibular dystonia3GRIN2B CL E G H2904613970Mental retardation, autosomal dominant 6613970C3151411OMIM113534586138252
HP:0001332HP:0000643Blepharospasm3GTPBP2 CL E G H54676617988JABERI-ELAHI SYNDROME617988CN244943OMIM11474670607434
HP:0001332HP:0000473Torticollis3GTPBP2 CL E G H54676617988JABERI-ELAHI SYNDROME617988CN244943OMIM11474670607434
HP:0001332HP:0031008Lingual dystonia3GTPBP2 CL E G H54676617988JABERI-ELAHI SYNDROME617988CN244943OMIM11474670607434
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3GTPBP2 CL E G H54676617988JABERI-ELAHI SYNDROME617988CN244943OMIM11474670607434
HP:0001332HP:0012048Oromandibular dystonia3GTPBP2 CL E G H54676617988JABERI-ELAHI SYNDROME617988CN244943OMIM11474670607434
HP:0001332HP:0000643Blepharospasm3HACE1 CL E G H57531464282ORPHA122721033610876
HP:0001332HP:0000473Torticollis3HACE1 CL E G H57531464282ORPHA122721033610876
HP:0001332HP:0031008Lingual dystonia3HACE1 CL E G H57531464282ORPHA122721033610876
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3HACE1 CL E G H57531464282ORPHA122721033610876
HP:0001332HP:0012048Oromandibular dystonia3HACE1 CL E G H57531464282ORPHA122721033610876
HP:0001332HP:0000643Blepharospasm3HIBCH CL E G H26275250620Beta-hydroxyisobutyryl-CoA deacylase deficiency250620C0342738OMIM12354908610690
HP:0001332HP:0000473Torticollis3HIBCH CL E G H26275250620Beta-hydroxyisobutyryl-CoA deacylase deficiency250620C0342738OMIM12354908610690
HP:0001332HP:0031008Lingual dystonia3HIBCH CL E G H26275250620Beta-hydroxyisobutyryl-CoA deacylase deficiency250620C0342738OMIM12354908610690
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3HIBCH CL E G H26275250620Beta-hydroxyisobutyryl-CoA deacylase deficiency250620C0342738OMIM12354908610690
HP:0001332HP:0012048Oromandibular dystonia3HIBCH CL E G H26275250620Beta-hydroxyisobutyryl-CoA deacylase deficiency250620C0342738OMIM12354908610690
HP:0001332HP:0000643Blepharospasm3HPRT1 CL E G H3251300322Lesch-Nyhan syndrome300322C0023374OMIM13545157308000
HP:0001332HP:0000473Torticollis3HPRT1 CL E G H3251300322Lesch-Nyhan syndrome300322C0023374OMIM13545157308000
HP:0001332HP:0031008Lingual dystonia3HPRT1 CL E G H3251300322Lesch-Nyhan syndrome300322C0023374OMIM13545157308000
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3HPRT1 CL E G H3251300322Lesch-Nyhan syndrome300322C0023374OMIM13545157308000
HP:0001332HP:0012048Oromandibular dystonia3HPRT1 CL E G H3251300322Lesch-Nyhan syndrome300322C0023374OMIM13545157308000
HP:0001332HP:0000643Blepharospasm3HTRA2 CL E G H274296172483-methylglutaconic aciduria, type VIII617248C4310650OMIM124414348606441
HP:0001332HP:0000473Torticollis3HTRA2 CL E G H274296172483-methylglutaconic aciduria, type VIII617248C4310650OMIM124414348606441
HP:0001332HP:0031008Lingual dystonia3HTRA2 CL E G H274296172483-methylglutaconic aciduria, type VIII617248C4310650OMIM124414348606441
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3HTRA2 CL E G H274296172483-methylglutaconic aciduria, type VIII617248C4310650OMIM124414348606441
HP:0001332HP:0012048Oromandibular dystonia3HTRA2 CL E G H274296172483-methylglutaconic aciduria, type VIII617248C4310650OMIM124414348606441
HP:0001332HP:0000643Blepharospasm3HTT CL E G H3064248111ORPHA17604851613004
HP:0001332HP:0000473Torticollis3HTT CL E G H3064248111ORPHA17604851613004
HP:0001332HP:0031008Lingual dystonia3HTT CL E G H3064248111ORPHA17604851613004
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3HTT CL E G H3064248111ORPHA17604851613004
HP:0001332HP:0012048Oromandibular dystonia3HTT CL E G H3064248111ORPHA17604851613004
HP:0001332HP:0000643Blepharospasm3HTT CL E G H3064617435Lopes-Maciel-Rodan syndrome617435C4479491OMIM17604851613004
HP:0001332HP:0000473Torticollis3HTT CL E G H3064617435Lopes-Maciel-Rodan syndrome617435C4479491OMIM17604851613004
HP:0001332HP:0031008Lingual dystonia3HTT CL E G H3064617435Lopes-Maciel-Rodan syndrome617435C4479491OMIM17604851613004
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3HTT CL E G H3064617435Lopes-Maciel-Rodan syndrome617435C4479491OMIM17604851613004
HP:0001332HP:0012048Oromandibular dystonia3HTT CL E G H3064617435Lopes-Maciel-Rodan syndrome617435C4479491OMIM17604851613004
HP:0001332HP:0000643Blepharospasm3IFIH1 CL E G H6413551ORPHA1117018873606951
HP:0001332HP:0000473Torticollis3IFIH1 CL E G H6413551ORPHA1117018873606951
HP:0001332HP:0031008Lingual dystonia3IFIH1 CL E G H6413551ORPHA1117018873606951
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3IFIH1 CL E G H6413551ORPHA1117018873606951
HP:0001332HP:0012048Oromandibular dystonia3IFIH1 CL E G H6413551ORPHA1117018873606951
HP:0001332HP:0000643Blepharospasm3IFIH1 CL E G H64135615846Aicardi-Goutieres syndrome 7615846C3888244OMIM1117018873606951
HP:0001332HP:0000473Torticollis3IFIH1 CL E G H64135615846Aicardi-Goutieres syndrome 7615846C3888244OMIM1117018873606951
HP:0001332HP:0031008Lingual dystonia3IFIH1 CL E G H64135615846Aicardi-Goutieres syndrome 7615846C3888244OMIM1117018873606951
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3IFIH1 CL E G H64135615846Aicardi-Goutieres syndrome 7615846C3888244OMIM1117018873606951
HP:0001332HP:0012048Oromandibular dystonia3IFIH1 CL E G H64135615846Aicardi-Goutieres syndrome 7615846C3888244OMIM1117018873606951
HP:0001332HP:0000643Blepharospasm3IRF2BPL CL E G H64207618088NEURODEVELOPMENTAL DISORDER WITH REGRESSION, ABNORMAL MOVEMENTS, LOSS OF SPEECH, AND SEIZURES618088CN252701OMIM131214282611720
HP:0001332HP:0000473Torticollis3IRF2BPL CL E G H64207618088NEURODEVELOPMENTAL DISORDER WITH REGRESSION, ABNORMAL MOVEMENTS, LOSS OF SPEECH, AND SEIZURES618088CN252701OMIM131214282611720
HP:0001332HP:0031008Lingual dystonia3IRF2BPL CL E G H64207618088NEURODEVELOPMENTAL DISORDER WITH REGRESSION, ABNORMAL MOVEMENTS, LOSS OF SPEECH, AND SEIZURES618088CN252701OMIM131214282611720
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3IRF2BPL CL E G H64207618088NEURODEVELOPMENTAL DISORDER WITH REGRESSION, ABNORMAL MOVEMENTS, LOSS OF SPEECH, AND SEIZURES618088CN252701OMIM131214282611720
HP:0001332HP:0012048Oromandibular dystonia3IRF2BPL CL E G H64207618088NEURODEVELOPMENTAL DISORDER WITH REGRESSION, ABNORMAL MOVEMENTS, LOSS OF SPEECH, AND SEIZURES618088CN252701OMIM131214282611720
HP:0001332HP:0000643Blepharospasm3JPH3 CL E G H57338606438Huntington disease-like 2606438C1847987OMIM117614203605268
HP:0001332HP:0000473Torticollis3JPH3 CL E G H57338606438Huntington disease-like 2606438C1847987OMIM117614203605268
HP:0001332HP:0031008Lingual dystonia3JPH3 CL E G H57338606438Huntington disease-like 2606438C1847987OMIM117614203605268
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3JPH3 CL E G H57338606438Huntington disease-like 2606438C1847987OMIM117614203605268
HP:0001332HP:0012048Oromandibular dystonia3JPH3 CL E G H57338606438Huntington disease-like 2606438C1847987OMIM117614203605268
HP:0001332HP:0000643Blepharospasm3KCNQ2 CL E G H3785439218ORPHA119626296602235
HP:0001332HP:0000473Torticollis3KCNQ2 CL E G H3785439218ORPHA119626296602235
HP:0001332HP:0031008Lingual dystonia3KCNQ2 CL E G H3785439218ORPHA119626296602235
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3KCNQ2 CL E G H3785439218ORPHA119626296602235
HP:0001332HP:0012048Oromandibular dystonia3KCNQ2 CL E G H3785439218ORPHA119626296602235
HP:0001332HP:0000643Blepharospasm3KCNQ2 CL E G H3785613720Early infantile epileptic encephalopathy 7613720C3150986OMIM119626296602235
HP:0001332HP:0000473Torticollis3KCNQ2 CL E G H3785613720Early infantile epileptic encephalopathy 7613720C3150986OMIM119626296602235
HP:0001332HP:0031008Lingual dystonia3KCNQ2 CL E G H3785613720Early infantile epileptic encephalopathy 7613720C3150986OMIM119626296602235
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3KCNQ2 CL E G H3785613720Early infantile epileptic encephalopathy 7613720C3150986OMIM119626296602235
HP:0001332HP:0012048Oromandibular dystonia3KCNQ2 CL E G H3785613720Early infantile epileptic encephalopathy 7613720C3150986OMIM119626296602235
HP:0001332HP:0000643Blepharospasm3LIPT1 CL E G H51601255241ORPHA112429569610284
HP:0001332HP:0000473Torticollis3LIPT1 CL E G H51601255241ORPHA112429569610284
HP:0001332HP:0031008Lingual dystonia3LIPT1 CL E G H51601255241ORPHA112429569610284
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3LIPT1 CL E G H51601255241ORPHA112429569610284
HP:0001332HP:0012048Oromandibular dystonia3LIPT1 CL E G H51601255241ORPHA112429569610284
HP:0001332HP:0000643Blepharospasm3LIPT1 CL E G H51601616299Lipoyltransferase 1 deficiency616299C4225379OMIM112429569610284
HP:0001332HP:0000473Torticollis3LIPT1 CL E G H51601616299Lipoyltransferase 1 deficiency616299C4225379OMIM112429569610284
HP:0001332HP:0031008Lingual dystonia3LIPT1 CL E G H51601616299Lipoyltransferase 1 deficiency616299C4225379OMIM112429569610284
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3LIPT1 CL E G H51601616299Lipoyltransferase 1 deficiency616299C4225379OMIM112429569610284
HP:0001332HP:0012048Oromandibular dystonia3LIPT1 CL E G H51601616299Lipoyltransferase 1 deficiency616299C4225379OMIM112429569610284
HP:0001332HP:0000643Blepharospasm3LIPT2 CL E G H387787617668ENCEPHALOPATHY, NEONATAL SEVERE, WITH LACTIC ACIDOSIS AND BRAIN ABNORMALITIES617668C4540052OMIM111337216617659
HP:0001332HP:0000473Torticollis3LIPT2 CL E G H387787617668ENCEPHALOPATHY, NEONATAL SEVERE, WITH LACTIC ACIDOSIS AND BRAIN ABNORMALITIES617668C4540052OMIM111337216617659
HP:0001332HP:0031008Lingual dystonia3LIPT2 CL E G H387787617668ENCEPHALOPATHY, NEONATAL SEVERE, WITH LACTIC ACIDOSIS AND BRAIN ABNORMALITIES617668C4540052OMIM111337216617659
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3LIPT2 CL E G H387787617668ENCEPHALOPATHY, NEONATAL SEVERE, WITH LACTIC ACIDOSIS AND BRAIN ABNORMALITIES617668C4540052OMIM111337216617659
HP:0001332HP:0012048Oromandibular dystonia3LIPT2 CL E G H387787617668ENCEPHALOPATHY, NEONATAL SEVERE, WITH LACTIC ACIDOSIS AND BRAIN ABNORMALITIES617668C4540052OMIM111337216617659
HP:0001332HP:0000643Blepharospasm3MARS2 CL E G H92935314603ORPHA120425133609728
HP:0001332HP:0000473Torticollis3MARS2 CL E G H92935314603ORPHA120425133609728
HP:0001332HP:0031008Lingual dystonia3MARS2 CL E G H92935314603ORPHA120425133609728
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3MARS2 CL E G H92935314603ORPHA120425133609728
HP:0001332HP:0012048Oromandibular dystonia3MARS2 CL E G H92935314603ORPHA120425133609728
HP:0001332HP:0000643Blepharospasm3MARS2 CL E G H92935611390Ataxia, spastic, 3, autosomal recessive611390C1969645OMIM120425133609728
HP:0001332HP:0000473Torticollis3MARS2 CL E G H92935611390Ataxia, spastic, 3, autosomal recessive611390C1969645OMIM120425133609728
HP:0001332HP:0031008Lingual dystonia3MARS2 CL E G H92935611390Ataxia, spastic, 3, autosomal recessive611390C1969645OMIM120425133609728
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3MARS2 CL E G H92935611390Ataxia, spastic, 3, autosomal recessive611390C1969645OMIM120425133609728
HP:0001332HP:0012048Oromandibular dystonia3MARS2 CL E G H92935611390Ataxia, spastic, 3, autosomal recessive611390C1969645OMIM120425133609728
HP:0001332HP:0000643Blepharospasm3MAT1A CL E G H4143250850Hepatic methionine adenosyltransferase deficiency250850C0268621OMIM13536903610550
HP:0001332HP:0000473Torticollis3MAT1A CL E G H4143250850Hepatic methionine adenosyltransferase deficiency250850C0268621OMIM13536903610550
HP:0001332HP:0031008Lingual dystonia3MAT1A CL E G H4143250850Hepatic methionine adenosyltransferase deficiency250850C0268621OMIM13536903610550
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3MAT1A CL E G H4143250850Hepatic methionine adenosyltransferase deficiency250850C0268621OMIM13536903610550
HP:0001332HP:0012048Oromandibular dystonia3MAT1A CL E G H4143250850Hepatic methionine adenosyltransferase deficiency250850C0268621OMIM13536903610550
HP:0001332HP:0000643Blepharospasm3MCOLN1 CL E G H57192252650Mucolipidosis type IV252650C0238286OMIM166913356605248
HP:0001332HP:0000473Torticollis3MCOLN1 CL E G H57192252650Mucolipidosis type IV252650C0238286OMIM166913356605248
HP:0001332HP:0031008Lingual dystonia3MCOLN1 CL E G H57192252650Mucolipidosis type IV252650C0238286OMIM166913356605248
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3MCOLN1 CL E G H57192252650Mucolipidosis type IV252650C0238286OMIM166913356605248
HP:0001332HP:0012048Oromandibular dystonia3MCOLN1 CL E G H57192252650Mucolipidosis type IV252650C0238286OMIM166913356605248
HP:0001332HP:0000643Blepharospasm3MDH2 CL E G H4191617339Epileptic encephalopathy, early infantile, 51617339C4479208OMIM15936971154100
HP:0001332HP:0000473Torticollis3MDH2 CL E G H4191617339Epileptic encephalopathy, early infantile, 51617339C4479208OMIM15936971154100
HP:0001332HP:0031008Lingual dystonia3MDH2 CL E G H4191617339Epileptic encephalopathy, early infantile, 51617339C4479208OMIM15936971154100
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3MDH2 CL E G H4191617339Epileptic encephalopathy, early infantile, 51617339C4479208OMIM15936971154100
HP:0001332HP:0012048Oromandibular dystonia3MDH2 CL E G H4191617339Epileptic encephalopathy, early infantile, 51617339C4479208OMIM15936971154100
HP:0001332HP:0000643Blepharospasm3MECP2 CL E G H4204778ORPHA119256990300005
HP:0001332HP:0000473Torticollis3MECP2 CL E G H4204778ORPHA119256990300005
HP:0001332HP:0031008Lingual dystonia3MECP2 CL E G H4204778ORPHA119256990300005
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3MECP2 CL E G H4204778ORPHA119256990300005
HP:0001332HP:0012048Oromandibular dystonia3MECP2 CL E G H4204778ORPHA119256990300005
HP:0001332HP:0000643Blepharospasm3MECP2 CL E G H4204312750Rett syndrome312750C0035372OMIM119256990300005
HP:0001332HP:0000473Torticollis3MECP2 CL E G H4204312750Rett syndrome312750C0035372OMIM119256990300005
HP:0001332HP:0031008Lingual dystonia3MECP2 CL E G H4204312750Rett syndrome312750C0035372OMIM119256990300005
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3MECP2 CL E G H4204312750Rett syndrome312750C0035372OMIM119256990300005
HP:0001332HP:0012048Oromandibular dystonia3MECP2 CL E G H4204312750Rett syndrome312750C0035372OMIM119256990300005
HP:0001332HP:0000643Blepharospasm3MICU1 CL E G H10367401768ORPHA12651530605084
HP:0001332HP:0000473Torticollis3MICU1 CL E G H10367401768ORPHA12651530605084
HP:0001332HP:0031008Lingual dystonia3MICU1 CL E G H10367401768ORPHA12651530605084
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3MICU1 CL E G H10367401768ORPHA12651530605084
HP:0001332HP:0012048Oromandibular dystonia3MICU1 CL E G H10367401768ORPHA12651530605084
HP:0001332HP:0000643Blepharospasm3MMADHC CL E G H27249277410Methylmalonic acidemia with homocystinuria cblD277410C1848552OMIM128225221611935
HP:0001332HP:0000473Torticollis3MMADHC CL E G H27249277410Methylmalonic acidemia with homocystinuria cblD277410C1848552OMIM128225221611935
HP:0001332HP:0031008Lingual dystonia3MMADHC CL E G H27249277410Methylmalonic acidemia with homocystinuria cblD277410C1848552OMIM128225221611935
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3MMADHC CL E G H27249277410Methylmalonic acidemia with homocystinuria cblD277410C1848552OMIM128225221611935
HP:0001332HP:0012048Oromandibular dystonia3MMADHC CL E G H27249277410Methylmalonic acidemia with homocystinuria cblD277410C1848552OMIM128225221611935
HP:0001332HP:0000643Blepharospasm3MMUT CL E G H459479312ORPHA18967526609058
HP:0001332HP:0000473Torticollis3MMUT CL E G H459479312ORPHA18967526609058
HP:0001332HP:0031008Lingual dystonia3MMUT CL E G H459479312ORPHA18967526609058
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3MMUT CL E G H459479312ORPHA18967526609058
HP:0001332HP:0012048Oromandibular dystonia3MMUT CL E G H459479312ORPHA18967526609058
HP:0001332HP:0000643Blepharospasm3MPV17 CL E G H4358256810Navajo neurohepatopathy256810C1850406OMIM12647224137960
HP:0001332HP:0000473Torticollis3MPV17 CL E G H4358256810Navajo neurohepatopathy256810C1850406OMIM12647224137960
HP:0001332HP:0031008Lingual dystonia3MPV17 CL E G H4358256810Navajo neurohepatopathy256810C1850406OMIM12647224137960
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3MPV17 CL E G H4358256810Navajo neurohepatopathy256810C1850406OMIM12647224137960
HP:0001332HP:0012048Oromandibular dystonia3MPV17 CL E G H4358256810Navajo neurohepatopathy256810C1850406OMIM12647224137960
HP:0001332HP:0000643Blepharospasm3MRE11 CL E G H4361251347ORPHA119117230600814
HP:0001332HP:0000473Torticollis3MRE11 CL E G H4361251347ORPHA119117230600814
HP:0001332HP:0031008Lingual dystonia3MRE11 CL E G H4361251347ORPHA119117230600814
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3MRE11 CL E G H4361251347ORPHA119117230600814
HP:0001332HP:0012048Oromandibular dystonia3MRE11 CL E G H4361251347ORPHA119117230600814
HP:0001332HP:0000643Blepharospasm3MRE11 CL E G H4361604391Ataxia-telangiectasia-like disorder 1604391C1858391OMIM119117230600814
HP:0001332HP:0000473Torticollis3MRE11 CL E G H4361604391Ataxia-telangiectasia-like disorder 1604391C1858391OMIM119117230600814
HP:0001332HP:0031008Lingual dystonia3MRE11 CL E G H4361604391Ataxia-telangiectasia-like disorder 1604391C1858391OMIM119117230600814
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3MRE11 CL E G H4361604391Ataxia-telangiectasia-like disorder 1604391C1858391OMIM119117230600814
HP:0001332HP:0012048Oromandibular dystonia3MRE11 CL E G H4361604391Ataxia-telangiectasia-like disorder 1604391C1858391OMIM119117230600814
HP:0001332HP:0000643Blepharospasm3MRPS34 CL E G H65993617664COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 32617664C4540029OMIM113816618611994
HP:0001332HP:0000473Torticollis3MRPS34 CL E G H65993617664COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 32617664C4540029OMIM113816618611994
HP:0001332HP:0031008Lingual dystonia3MRPS34 CL E G H65993617664COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 32617664C4540029OMIM113816618611994
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3MRPS34 CL E G H65993617664COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 32617664C4540029OMIM113816618611994
HP:0001332HP:0012048Oromandibular dystonia3MRPS34 CL E G H65993617664COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 32617664C4540029OMIM113816618611994
HP:0001332HP:0000643Blepharospasm3MT-ATP6 CL E G H4508225154ORPHA17414516060
HP:0001332HP:0000473Torticollis3MT-ATP6 CL E G H4508225154ORPHA17414516060
HP:0001332HP:0031008Lingual dystonia3MT-ATP6 CL E G H4508225154ORPHA17414516060
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3MT-ATP6 CL E G H4508225154ORPHA17414516060
HP:0001332HP:0012048Oromandibular dystonia3MT-ATP6 CL E G H4508225154ORPHA17414516060
HP:0001332HP:0000643Blepharospasm3MT-ATP6 CL E G H4508535000Leber's optic atrophy535000C0917796OMIM17414516060
HP:0001332HP:0000473Torticollis3MT-ATP6 CL E G H4508535000Leber's optic atrophy535000C0917796OMIM17414516060
HP:0001332HP:0031008Lingual dystonia3MT-ATP6 CL E G H4508535000Leber's optic atrophy535000C0917796OMIM17414516060
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3MT-ATP6 CL E G H4508535000Leber's optic atrophy535000C0917796OMIM17414516060
HP:0001332HP:0012048Oromandibular dystonia3MT-ATP6 CL E G H4508535000Leber's optic atrophy535000C0917796OMIM17414516060
HP:0001332HP:0000643Blepharospasm3MT-CO3 CL E G H4514535000Leber's optic atrophy535000C0917796OMIM17422516050
HP:0001332HP:0000473Torticollis3MT-CO3 CL E G H4514535000Leber's optic atrophy535000C0917796OMIM17422516050
HP:0001332HP:0031008Lingual dystonia3MT-CO3 CL E G H4514535000Leber's optic atrophy535000C0917796OMIM17422516050
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3MT-CO3 CL E G H4514535000Leber's optic atrophy535000C0917796OMIM17422516050
HP:0001332HP:0012048Oromandibular dystonia3MT-CO3 CL E G H4514535000Leber's optic atrophy535000C0917796OMIM17422516050
HP:0001332HP:0000643Blepharospasm3MT-CYB CL E G H4519535000Leber's optic atrophy535000C0917796OMIM17427516020
HP:0001332HP:0000473Torticollis3MT-CYB CL E G H4519535000Leber's optic atrophy535000C0917796OMIM17427516020
HP:0001332HP:0031008Lingual dystonia3MT-CYB CL E G H4519535000Leber's optic atrophy535000C0917796OMIM17427516020
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3MT-CYB CL E G H4519535000Leber's optic atrophy535000C0917796OMIM17427516020
HP:0001332HP:0012048Oromandibular dystonia3MT-CYB CL E G H4519535000Leber's optic atrophy535000C0917796OMIM17427516020
HP:0001332HP:0000643Blepharospasm3MT-ND1 CL E G H4535535000Leber's optic atrophy535000C0917796OMIM17455516000
HP:0001332HP:0000473Torticollis3MT-ND1 CL E G H4535535000Leber's optic atrophy535000C0917796OMIM17455516000
HP:0001332HP:0031008Lingual dystonia3MT-ND1 CL E G H4535535000Leber's optic atrophy535000C0917796OMIM17455516000
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3MT-ND1 CL E G H4535535000Leber's optic atrophy535000C0917796OMIM17455516000
HP:0001332HP:0012048Oromandibular dystonia3MT-ND1 CL E G H4535535000Leber's optic atrophy535000C0917796OMIM17455516000
HP:0001332HP:0000643Blepharospasm3MT-ND2 CL E G H4536535000Leber's optic atrophy535000C0917796OMIM17456516001
HP:0001332HP:0000473Torticollis3MT-ND2 CL E G H4536535000Leber's optic atrophy535000C0917796OMIM17456516001
HP:0001332HP:0031008Lingual dystonia3MT-ND2 CL E G H4536535000Leber's optic atrophy535000C0917796OMIM17456516001
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3MT-ND2 CL E G H4536535000Leber's optic atrophy535000C0917796OMIM17456516001
HP:0001332HP:0012048Oromandibular dystonia3MT-ND2 CL E G H4536535000Leber's optic atrophy535000C0917796OMIM17456516001
HP:0001332HP:0000643Blepharospasm3MT-ND4 CL E G H4538535000Leber's optic atrophy535000C0917796OMIM17459516003
HP:0001332HP:0000473Torticollis3MT-ND4 CL E G H4538535000Leber's optic atrophy535000C0917796OMIM17459516003
HP:0001332HP:0031008Lingual dystonia3MT-ND4 CL E G H4538535000Leber's optic atrophy535000C0917796OMIM17459516003
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3MT-ND4 CL E G H4538535000Leber's optic atrophy535000C0917796OMIM17459516003
HP:0001332HP:0012048Oromandibular dystonia3MT-ND4 CL E G H4538535000Leber's optic atrophy535000C0917796OMIM17459516003
HP:0001332HP:0000643Blepharospasm3MT-ND4L CL E G H4539535000Leber's optic atrophy535000C0917796OMIM17460516004
HP:0001332HP:0000473Torticollis3MT-ND4L CL E G H4539535000Leber's optic atrophy535000C0917796OMIM17460516004
HP:0001332HP:0031008Lingual dystonia3MT-ND4L CL E G H4539535000Leber's optic atrophy535000C0917796OMIM17460516004
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3MT-ND4L CL E G H4539535000Leber's optic atrophy535000C0917796OMIM17460516004
HP:0001332HP:0012048Oromandibular dystonia3MT-ND4L CL E G H4539535000Leber's optic atrophy535000C0917796OMIM17460516004
HP:0001332HP:0000643Blepharospasm3MT-ND5 CL E G H4540535000Leber's optic atrophy535000C0917796OMIM17461516005
HP:0001332HP:0000473Torticollis3MT-ND5 CL E G H4540535000Leber's optic atrophy535000C0917796OMIM17461516005
HP:0001332HP:0031008Lingual dystonia3MT-ND5 CL E G H4540535000Leber's optic atrophy535000C0917796OMIM17461516005
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3MT-ND5 CL E G H4540535000Leber's optic atrophy535000C0917796OMIM17461516005
HP:0001332HP:0012048Oromandibular dystonia3MT-ND5 CL E G H4540535000Leber's optic atrophy535000C0917796OMIM17461516005
HP:0001332HP:0000643Blepharospasm3MT-ND6 CL E G H4541535000Leber's optic atrophy535000C0917796OMIM17462516006
HP:0001332HP:0000473Torticollis3MT-ND6 CL E G H4541535000Leber's optic atrophy535000C0917796OMIM17462516006
HP:0001332HP:0031008Lingual dystonia3MT-ND6 CL E G H4541535000Leber's optic atrophy535000C0917796OMIM17462516006
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3MT-ND6 CL E G H4541535000Leber's optic atrophy535000C0917796OMIM17462516006
HP:0001332HP:0012048Oromandibular dystonia3MT-ND6 CL E G H4541535000Leber's optic atrophy535000C0917796OMIM17462516006
HP:0001332HP:0000643Blepharospasm3MTFMT CL E G H123263255241ORPHA124329666611766
HP:0001332HP:0000473Torticollis3MTFMT CL E G H123263255241ORPHA124329666611766
HP:0001332HP:0031008Lingual dystonia3MTFMT CL E G H123263255241ORPHA124329666611766
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3MTFMT CL E G H123263255241ORPHA124329666611766
HP:0001332HP:0012048Oromandibular dystonia3MTFMT CL E G H123263255241ORPHA124329666611766
HP:0001332HP:0000643Blepharospasm3NADK2 CL E G H133686431361ORPHA122126404615787
HP:0001332HP:0000473Torticollis3NADK2 CL E G H133686431361ORPHA122126404615787
HP:0001332HP:0031008Lingual dystonia3NADK2 CL E G H133686431361ORPHA122126404615787
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3NADK2 CL E G H133686431361ORPHA122126404615787
HP:0001332HP:0012048Oromandibular dystonia3NADK2 CL E G H133686431361ORPHA122126404615787
HP:0001332HP:0000643Blepharospasm3NADK2 CL E G H1336866160342,4-Dienoyl-CoA reductase deficiency616034C1857252OMIM122126404615787
HP:0001332HP:0000473Torticollis3NADK2 CL E G H1336866160342,4-Dienoyl-CoA reductase deficiency616034C1857252OMIM122126404615787
HP:0001332HP:0031008Lingual dystonia3NADK2 CL E G H1336866160342,4-Dienoyl-CoA reductase deficiency616034C1857252OMIM122126404615787
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3NADK2 CL E G H1336866160342,4-Dienoyl-CoA reductase deficiency616034C1857252OMIM122126404615787
HP:0001332HP:0012048Oromandibular dystonia3NADK2 CL E G H1336866160342,4-Dienoyl-CoA reductase deficiency616034C1857252OMIM122126404615787
HP:0001332HP:0000643Blepharospasm3NDUFA10 CL E G H4705255241ORPHA14217684603835
HP:0001332HP:0000473Torticollis3NDUFA10 CL E G H4705255241ORPHA14217684603835
HP:0001332HP:0031008Lingual dystonia3NDUFA10 CL E G H4705255241ORPHA14217684603835
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3NDUFA10 CL E G H4705255241ORPHA14217684603835
HP:0001332HP:0012048Oromandibular dystonia3NDUFA10 CL E G H4705255241ORPHA14217684603835
HP:0001332HP:0000643Blepharospasm3NDUFA12 CL E G H55967255241ORPHA19223987614530
HP:0001332HP:0000473Torticollis3NDUFA12 CL E G H55967255241ORPHA19223987614530
HP:0001332HP:0031008Lingual dystonia3NDUFA12 CL E G H55967255241ORPHA19223987614530
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3NDUFA12 CL E G H55967255241ORPHA19223987614530
HP:0001332HP:0012048Oromandibular dystonia3NDUFA12 CL E G H55967255241ORPHA19223987614530
HP:0001332HP:0000643Blepharospasm3NDUFA12 CL E G H55967618244MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 23618244OMIM19223987614530
HP:0001332HP:0000473Torticollis3NDUFA12 CL E G H55967618244MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 23618244OMIM19223987614530
HP:0001332HP:0031008Lingual dystonia3NDUFA12 CL E G H55967618244MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 23618244OMIM19223987614530
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3NDUFA12 CL E G H55967618244MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 23618244OMIM19223987614530
HP:0001332HP:0012048Oromandibular dystonia3NDUFA12 CL E G H55967618244MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 23618244OMIM19223987614530
HP:0001332HP:0000643Blepharospasm3NDUFA13 CL E G H51079255241ORPHA16517194609435
HP:0001332HP:0000473Torticollis3NDUFA13 CL E G H51079255241ORPHA16517194609435
HP:0001332HP:0031008Lingual dystonia3NDUFA13 CL E G H51079255241ORPHA16517194609435
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3NDUFA13 CL E G H51079255241ORPHA16517194609435
HP:0001332HP:0012048Oromandibular dystonia3NDUFA13 CL E G H51079255241ORPHA16517194609435
HP:0001332HP:0000643Blepharospasm3NDUFA2 CL E G H4695255241ORPHA1957685602137
HP:0001332HP:0000473Torticollis3NDUFA2 CL E G H4695255241ORPHA1957685602137
HP:0001332HP:0031008Lingual dystonia3NDUFA2 CL E G H4695255241ORPHA1957685602137
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3NDUFA2 CL E G H4695255241ORPHA1957685602137
HP:0001332HP:0012048Oromandibular dystonia3NDUFA2 CL E G H4695255241ORPHA1957685602137
HP:0001332HP:0000643Blepharospasm3NDUFA4 CL E G H4697255241ORPHA1967687603833
HP:0001332HP:0000473Torticollis3NDUFA4 CL E G H4697255241ORPHA1967687603833
HP:0001332HP:0031008Lingual dystonia3NDUFA4 CL E G H4697255241ORPHA1967687603833
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3NDUFA4 CL E G H4697255241ORPHA1967687603833
HP:0001332HP:0012048Oromandibular dystonia3NDUFA4 CL E G H4697255241ORPHA1967687603833
HP:0001332HP:0000643Blepharospasm3NDUFA9 CL E G H4704255241ORPHA12357693603834
HP:0001332HP:0000473Torticollis3NDUFA9 CL E G H4704255241ORPHA12357693603834
HP:0001332HP:0031008Lingual dystonia3NDUFA9 CL E G H4704255241ORPHA12357693603834
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3NDUFA9 CL E G H4704255241ORPHA12357693603834
HP:0001332HP:0012048Oromandibular dystonia3NDUFA9 CL E G H4704255241ORPHA12357693603834
HP:0001332HP:0000643Blepharospasm3NDUFA9 CL E G H4704618247MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 26618247OMIM12357693603834
HP:0001332HP:0000473Torticollis3NDUFA9 CL E G H4704618247MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 26618247OMIM12357693603834
HP:0001332HP:0031008Lingual dystonia3NDUFA9 CL E G H4704618247MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 26618247OMIM12357693603834
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3NDUFA9 CL E G H4704618247MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 26618247OMIM12357693603834
HP:0001332HP:0012048Oromandibular dystonia3NDUFA9 CL E G H4704618247MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 26618247OMIM12357693603834
HP:0001332HP:0000643Blepharospasm3NDUFAF2 CL E G H91942255241ORPHA113228086609653
HP:0001332HP:0000473Torticollis3NDUFAF2 CL E G H91942255241ORPHA113228086609653
HP:0001332HP:0031008Lingual dystonia3NDUFAF2 CL E G H91942255241ORPHA113228086609653
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3NDUFAF2 CL E G H91942255241ORPHA113228086609653
HP:0001332HP:0012048Oromandibular dystonia3NDUFAF2 CL E G H91942255241ORPHA113228086609653
HP:0001332HP:0000643Blepharospasm3NDUFAF4 CL E G H29078618237MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 15618237OMIM113621034611776
HP:0001332HP:0000473Torticollis3NDUFAF4 CL E G H29078618237MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 15618237OMIM113621034611776
HP:0001332HP:0031008Lingual dystonia3NDUFAF4 CL E G H29078618237MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 15618237OMIM113621034611776
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3NDUFAF4 CL E G H29078618237MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 15618237OMIM113621034611776
HP:0001332HP:0012048Oromandibular dystonia3NDUFAF4 CL E G H29078618237MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 15618237OMIM113621034611776
HP:0001332HP:0000643Blepharospasm3NDUFAF5 CL E G H79133255241ORPHA138315899612360
HP:0001332HP:0000473Torticollis3NDUFAF5 CL E G H79133255241ORPHA138315899612360
HP:0001332HP:0031008Lingual dystonia3NDUFAF5 CL E G H79133255241ORPHA138315899612360
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3NDUFAF5 CL E G H79133255241ORPHA138315899612360
HP:0001332HP:0012048Oromandibular dystonia3NDUFAF5 CL E G H79133255241ORPHA138315899612360
HP:0001332HP:0000643Blepharospasm3NDUFAF5 CL E G H79133618238MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 16618238OMIM138315899612360
HP:0001332HP:0000473Torticollis3NDUFAF5 CL E G H79133618238MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 16618238OMIM138315899612360
HP:0001332HP:0031008Lingual dystonia3NDUFAF5 CL E G H79133618238MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 16618238OMIM138315899612360
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3NDUFAF5 CL E G H79133618238MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 16618238OMIM138315899612360
HP:0001332HP:0012048Oromandibular dystonia3NDUFAF5 CL E G H79133618238MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 16618238OMIM138315899612360
HP:0001332HP:0000643Blepharospasm3NDUFAF6 CL E G H137682255241ORPHA128128625612392
HP:0001332HP:0000473Torticollis3NDUFAF6 CL E G H137682255241ORPHA128128625612392
HP:0001332HP:0031008Lingual dystonia3NDUFAF6 CL E G H137682255241ORPHA128128625612392
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3NDUFAF6 CL E G H137682255241ORPHA128128625612392
HP:0001332HP:0012048Oromandibular dystonia3NDUFAF6 CL E G H137682255241ORPHA128128625612392
HP:0001332HP:0000643Blepharospasm3NDUFAF6 CL E G H137682618239MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 17618239OMIM128128625612392
HP:0001332HP:0000473Torticollis3NDUFAF6 CL E G H137682618239MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 17618239OMIM128128625612392
HP:0001332HP:0031008Lingual dystonia3NDUFAF6 CL E G H137682618239MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 17618239OMIM128128625612392
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3NDUFAF6 CL E G H137682618239MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 17618239OMIM128128625612392
HP:0001332HP:0012048Oromandibular dystonia3NDUFAF6 CL E G H137682618239MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 17618239OMIM128128625612392
HP:0001332HP:0000643Blepharospasm3NDUFS1 CL E G H4719255241ORPHA14247707157655
HP:0001332HP:0000473Torticollis3NDUFS1 CL E G H4719255241ORPHA14247707157655
HP:0001332HP:0031008Lingual dystonia3NDUFS1 CL E G H4719255241ORPHA14247707157655
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3NDUFS1 CL E G H4719255241ORPHA14247707157655
HP:0001332HP:0012048Oromandibular dystonia3NDUFS1 CL E G H4719255241ORPHA14247707157655
HP:0001332HP:0000643Blepharospasm3NDUFS1 CL E G H4719618226MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 5618226OMIM14247707157655
HP:0001332HP:0000473Torticollis3NDUFS1 CL E G H4719618226MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 5618226OMIM14247707157655
HP:0001332HP:0031008Lingual dystonia3NDUFS1 CL E G H4719618226MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 5618226OMIM14247707157655
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3NDUFS1 CL E G H4719618226MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 5618226OMIM14247707157655
HP:0001332HP:0012048Oromandibular dystonia3NDUFS1 CL E G H4719618226MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 5618226OMIM14247707157655
HP:0001332HP:0000643Blepharospasm3NDUFS2 CL E G H4720255241ORPHA12477708602985
HP:0001332HP:0000473Torticollis3NDUFS2 CL E G H4720255241ORPHA12477708602985
HP:0001332HP:0031008Lingual dystonia3NDUFS2 CL E G H4720255241ORPHA12477708602985
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3NDUFS2 CL E G H4720255241ORPHA12477708602985
HP:0001332HP:0012048Oromandibular dystonia3NDUFS2 CL E G H4720255241ORPHA12477708602985
HP:0001332HP:0000643Blepharospasm3NDUFS3 CL E G H4722255241ORPHA11477710603846
HP:0001332HP:0000473Torticollis3NDUFS3 CL E G H4722255241ORPHA11477710603846
HP:0001332HP:0031008Lingual dystonia3NDUFS3 CL E G H4722255241ORPHA11477710603846
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3NDUFS3 CL E G H4722255241ORPHA11477710603846
HP:0001332HP:0012048Oromandibular dystonia3NDUFS3 CL E G H4722255241ORPHA11477710603846
HP:0001332HP:0000643Blepharospasm3NDUFS3 CL E G H4722618230MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 8618230OMIM11477710603846
HP:0001332HP:0000473Torticollis3NDUFS3 CL E G H4722618230MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 8618230OMIM11477710603846
HP:0001332HP:0031008Lingual dystonia3NDUFS3 CL E G H4722618230MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 8618230OMIM11477710603846
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3NDUFS3 CL E G H4722618230MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 8618230OMIM11477710603846
HP:0001332HP:0012048Oromandibular dystonia3NDUFS3 CL E G H4722618230MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 8618230OMIM11477710603846
HP:0001332HP:0000643Blepharospasm3NDUFS4 CL E G H4724255241ORPHA11397711602694
HP:0001332HP:0000473Torticollis3NDUFS4 CL E G H4724255241ORPHA11397711602694
HP:0001332HP:0031008Lingual dystonia3NDUFS4 CL E G H4724255241ORPHA11397711602694
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3NDUFS4 CL E G H4724255241ORPHA11397711602694
HP:0001332HP:0012048Oromandibular dystonia3NDUFS4 CL E G H4724255241ORPHA11397711602694
HP:0001332HP:0000643Blepharospasm3NDUFS7 CL E G H374291255241ORPHA12157714601825
HP:0001332HP:0000473Torticollis3NDUFS7 CL E G H374291255241ORPHA12157714601825
HP:0001332HP:0031008Lingual dystonia3NDUFS7 CL E G H374291255241ORPHA12157714601825
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3NDUFS7 CL E G H374291255241ORPHA12157714601825
HP:0001332HP:0012048Oromandibular dystonia3NDUFS7 CL E G H374291255241ORPHA12157714601825
HP:0001332HP:0000643Blepharospasm3NDUFS7 CL E G H374291618224MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 3618224OMIM12157714601825
HP:0001332HP:0000473Torticollis3NDUFS7 CL E G H374291618224MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 3618224OMIM12157714601825
HP:0001332HP:0031008Lingual dystonia3NDUFS7 CL E G H374291618224MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 3618224OMIM12157714601825
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3NDUFS7 CL E G H374291618224MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 3618224OMIM12157714601825
HP:0001332HP:0012048Oromandibular dystonia3NDUFS7 CL E G H374291618224MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 3618224OMIM12157714601825
HP:0001332HP:0000643Blepharospasm3NDUFS8 CL E G H4728255241ORPHA11297715602141
HP:0001332HP:0000473Torticollis3NDUFS8 CL E G H4728255241ORPHA11297715602141
HP:0001332HP:0031008Lingual dystonia3NDUFS8 CL E G H4728255241ORPHA11297715602141
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3NDUFS8 CL E G H4728255241ORPHA11297715602141
HP:0001332HP:0012048Oromandibular dystonia3NDUFS8 CL E G H4728255241ORPHA11297715602141
HP:0001332HP:0000643Blepharospasm3NDUFS8 CL E G H4728618222MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 2618222OMIM11297715602141
HP:0001332HP:0000473Torticollis3NDUFS8 CL E G H4728618222MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 2618222OMIM11297715602141
HP:0001332HP:0031008Lingual dystonia3NDUFS8 CL E G H4728618222MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 2618222OMIM11297715602141
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3NDUFS8 CL E G H4728618222MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 2618222OMIM11297715602141
HP:0001332HP:0012048Oromandibular dystonia3NDUFS8 CL E G H4728618222MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 2618222OMIM11297715602141
HP:0001332HP:0000643Blepharospasm3NDUFV1 CL E G H4723255241ORPHA13157716161015
HP:0001332HP:0000473Torticollis3NDUFV1 CL E G H4723255241ORPHA13157716161015
HP:0001332HP:0031008Lingual dystonia3NDUFV1 CL E G H4723255241ORPHA13157716161015
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3NDUFV1 CL E G H4723255241ORPHA13157716161015
HP:0001332HP:0012048Oromandibular dystonia3NDUFV1 CL E G H4723255241ORPHA13157716161015
HP:0001332HP:0000643Blepharospasm3NDUFV2 CL E G H4729255241ORPHA12297717600532
HP:0001332HP:0000473Torticollis3NDUFV2 CL E G H4729255241ORPHA12297717600532
HP:0001332HP:0031008Lingual dystonia3NDUFV2 CL E G H4729255241ORPHA12297717600532
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3NDUFV2 CL E G H4729255241ORPHA12297717600532
HP:0001332HP:0012048Oromandibular dystonia3NDUFV2 CL E G H4729255241ORPHA12297717600532
HP:0001332HP:0000643Blepharospasm3NHLRC2 CL E G H374354618278618278618278OMIM167247310
HP:0001332HP:0000473Torticollis3NHLRC2 CL E G H374354618278618278618278OMIM167247310
HP:0001332HP:0031008Lingual dystonia3NHLRC2 CL E G H374354618278618278618278OMIM167247310
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3NHLRC2 CL E G H374354618278618278618278OMIM167247310
HP:0001332HP:0012048Oromandibular dystonia3NHLRC2 CL E G H374354618278618278618278OMIM167247310
HP:0001332HP:0000643Blepharospasm3NKX2-1 CL E G H7080610978Choreoathetosis, hypothyroidism, and neonatal respiratory distress610978C1970269OMIM131711825600635
HP:0001332HP:0000473Torticollis3NKX2-1 CL E G H7080610978Choreoathetosis, hypothyroidism, and neonatal respiratory distress610978C1970269OMIM131711825600635
HP:0001332HP:0031008Lingual dystonia3NKX2-1 CL E G H7080610978Choreoathetosis, hypothyroidism, and neonatal respiratory distress610978C1970269OMIM131711825600635
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3NKX2-1 CL E G H7080610978Choreoathetosis, hypothyroidism, and neonatal respiratory distress610978C1970269OMIM131711825600635
HP:0001332HP:0012048Oromandibular dystonia3NKX2-1 CL E G H7080610978Choreoathetosis, hypothyroidism, and neonatal respiratory distress610978C1970269OMIM131711825600635
HP:0001332HP:0000643Blepharospasm3NKX6-2 CL E G H84504527497ORPHA123319321605955
HP:0001332HP:0000473Torticollis3NKX6-2 CL E G H84504527497ORPHA123319321605955
HP:0001332HP:0031008Lingual dystonia3NKX6-2 CL E G H84504527497ORPHA123319321605955
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3NKX6-2 CL E G H84504527497ORPHA123319321605955
HP:0001332HP:0012048Oromandibular dystonia3NKX6-2 CL E G H84504527497ORPHA123319321605955
HP:0001332HP:0000643Blepharospasm3NKX6-2 CL E G H84504617560SPASTIC ATAXIA 8, AUTOSOMAL RECESSIVE, WITH HYPOMYELINATING LEUKODYSTROPHY617560C4479653OMIM123319321605955
HP:0001332HP:0000473Torticollis3NKX6-2 CL E G H84504617560SPASTIC ATAXIA 8, AUTOSOMAL RECESSIVE, WITH HYPOMYELINATING LEUKODYSTROPHY617560C4479653OMIM123319321605955
HP:0001332HP:0031008Lingual dystonia3NKX6-2 CL E G H84504617560SPASTIC ATAXIA 8, AUTOSOMAL RECESSIVE, WITH HYPOMYELINATING LEUKODYSTROPHY617560C4479653OMIM123319321605955
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3NKX6-2 CL E G H84504617560SPASTIC ATAXIA 8, AUTOSOMAL RECESSIVE, WITH HYPOMYELINATING LEUKODYSTROPHY617560C4479653OMIM123319321605955
HP:0001332HP:0012048Oromandibular dystonia3NKX6-2 CL E G H84504617560SPASTIC ATAXIA 8, AUTOSOMAL RECESSIVE, WITH HYPOMYELINATING LEUKODYSTROPHY617560C4479653OMIM123319321605955
HP:0001332HP:0000643Blepharospasm3NPC1 CL E G H4864257220Niemann-Pick disease type C1257220C3179455OMIM121097897607623
HP:0001332HP:0000473Torticollis3NPC1 CL E G H4864257220Niemann-Pick disease type C1257220C3179455OMIM121097897607623
HP:0001332HP:0031008Lingual dystonia3NPC1 CL E G H4864257220Niemann-Pick disease type C1257220C3179455OMIM121097897607623
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3NPC1 CL E G H4864257220Niemann-Pick disease type C1257220C3179455OMIM121097897607623
HP:0001332HP:0012048Oromandibular dystonia3NPC1 CL E G H4864257220Niemann-Pick disease type C1257220C3179455OMIM121097897607623
HP:0001332HP:0000643Blepharospasm3NPC2 CL E G H10577607625Niemann-Pick disease type C2607625C1843366OMIM123214537601015
HP:0001332HP:0000473Torticollis3NPC2 CL E G H10577607625Niemann-Pick disease type C2607625C1843366OMIM123214537601015
HP:0001332HP:0031008Lingual dystonia3NPC2 CL E G H10577607625Niemann-Pick disease type C2607625C1843366OMIM123214537601015
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3NPC2 CL E G H10577607625Niemann-Pick disease type C2607625C1843366OMIM123214537601015
HP:0001332HP:0012048Oromandibular dystonia3NPC2 CL E G H10577607625Niemann-Pick disease type C2607625C1843366OMIM123214537601015
HP:0001332HP:0000643Blepharospasm3NR4A2 CL E G H4929168600Parkinson disease, late-onset168600C3160718OMIM11437981601828
HP:0001332HP:0000473Torticollis3NR4A2 CL E G H4929168600Parkinson disease, late-onset168600C3160718OMIM11437981601828
HP:0001332HP:0031008Lingual dystonia3NR4A2 CL E G H4929168600Parkinson disease, late-onset168600C3160718OMIM11437981601828
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3NR4A2 CL E G H4929168600Parkinson disease, late-onset168600C3160718OMIM11437981601828
HP:0001332HP:0012048Oromandibular dystonia3NR4A2 CL E G H4929168600Parkinson disease, late-onset168600C3160718OMIM11437981601828
HP:0001332HP:0000643Blepharospasm3NUP62 CL E G H23636225154ORPHA11618066605815
HP:0001332HP:0000473Torticollis3NUP62 CL E G H23636225154ORPHA11618066605815
HP:0001332HP:0031008Lingual dystonia3NUP62 CL E G H23636225154ORPHA11618066605815
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3NUP62 CL E G H23636225154ORPHA11618066605815
HP:0001332HP:0012048Oromandibular dystonia3NUP62 CL E G H23636225154ORPHA11618066605815
HP:0001332HP:0000643Blepharospasm3NUP62 CL E G H23636271930Striatonigral degeneration infantile271930C0795996OMIM11618066605815
HP:0001332HP:0000473Torticollis3NUP62 CL E G H23636271930Striatonigral degeneration infantile271930C0795996OMIM11618066605815
HP:0001332HP:0031008Lingual dystonia3NUP62 CL E G H23636271930Striatonigral degeneration infantile271930C0795996OMIM11618066605815
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3NUP62 CL E G H23636271930Striatonigral degeneration infantile271930C0795996OMIM11618066605815
HP:0001332HP:0012048Oromandibular dystonia3NUP62 CL E G H23636271930Striatonigral degeneration infantile271930C0795996OMIM11618066605815
HP:0001332HP:0000643Blepharospasm3PANK2 CL E G H80025607236Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration607236C1846582OMIM149915894606157
HP:0001332HP:0000473Torticollis3PANK2 CL E G H80025607236Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration607236C1846582OMIM149915894606157
HP:0001332HP:0031008Lingual dystonia3PANK2 CL E G H80025607236Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration607236C1846582OMIM149915894606157
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3PANK2 CL E G H80025607236Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration607236C1846582OMIM149915894606157
HP:0001332HP:0012048Oromandibular dystonia3PANK2 CL E G H80025607236Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration607236C1846582OMIM149915894606157
HP:0001332HP:0000643Blepharospasm3PCCA CL E G H5095606054Propionyl-CoA carboxylase deficiency606054C0268579OMIM111898653232000
HP:0001332HP:0000473Torticollis3PCCA CL E G H5095606054Propionyl-CoA carboxylase deficiency606054C0268579OMIM111898653232000
HP:0001332HP:0031008Lingual dystonia3PCCA CL E G H5095606054Propionyl-CoA carboxylase deficiency606054C0268579OMIM111898653232000
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3PCCA CL E G H5095606054Propionyl-CoA carboxylase deficiency606054C0268579OMIM111898653232000
HP:0001332HP:0012048Oromandibular dystonia3PCCA CL E G H5095606054Propionyl-CoA carboxylase deficiency606054C0268579OMIM111898653232000
HP:0001332HP:0000643Blepharospasm3PCCB CL E G H5096606054Propionyl-CoA carboxylase deficiency606054C0268579OMIM19718654232050
HP:0001332HP:0000473Torticollis3PCCB CL E G H5096606054Propionyl-CoA carboxylase deficiency606054C0268579OMIM19718654232050
HP:0001332HP:0031008Lingual dystonia3PCCB CL E G H5096606054Propionyl-CoA carboxylase deficiency606054C0268579OMIM19718654232050
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3PCCB CL E G H5096606054Propionyl-CoA carboxylase deficiency606054C0268579OMIM19718654232050
HP:0001332HP:0012048Oromandibular dystonia3PCCB CL E G H5096606054Propionyl-CoA carboxylase deficiency606054C0268579OMIM19718654232050
HP:0001332HP:0000643Blepharospasm3PCDH12 CL E G H51294251280Microcephaly with spastic quadriplegia251280C1855055OMIM13738657605622
HP:0001332HP:0000473Torticollis3PCDH12 CL E G H51294251280Microcephaly with spastic quadriplegia251280C1855055OMIM13738657605622
HP:0001332HP:0031008Lingual dystonia3PCDH12 CL E G H51294251280Microcephaly with spastic quadriplegia251280C1855055OMIM13738657605622
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3PCDH12 CL E G H51294251280Microcephaly with spastic quadriplegia251280C1855055OMIM13738657605622
HP:0001332HP:0012048Oromandibular dystonia3PCDH12 CL E G H51294251280Microcephaly with spastic quadriplegia251280C1855055OMIM13738657605622
HP:0001332HP:0000643Blepharospasm3PDGFB CL E G H5155213600Idiopathic basal ganglia calcification 1213600C0393590OMIM11518800190040
HP:0001332HP:0000473Torticollis3PDGFB CL E G H5155213600Idiopathic basal ganglia calcification 1213600C0393590OMIM11518800190040
HP:0001332HP:0031008Lingual dystonia3PDGFB CL E G H5155213600Idiopathic basal ganglia calcification 1213600C0393590OMIM11518800190040
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3PDGFB CL E G H5155213600Idiopathic basal ganglia calcification 1213600C0393590OMIM11518800190040
HP:0001332HP:0012048Oromandibular dystonia3PDGFB CL E G H5155213600Idiopathic basal ganglia calcification 1213600C0393590OMIM11518800190040
HP:0001332HP:0000643Blepharospasm3PDGFRB CL E G H5159213600Idiopathic basal ganglia calcification 1213600C0393590OMIM15318804173410
HP:0001332HP:0000473Torticollis3PDGFRB CL E G H5159213600Idiopathic basal ganglia calcification 1213600C0393590OMIM15318804173410
HP:0001332HP:0031008Lingual dystonia3PDGFRB CL E G H5159213600Idiopathic basal ganglia calcification 1213600C0393590OMIM15318804173410
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3PDGFRB CL E G H5159213600Idiopathic basal ganglia calcification 1213600C0393590OMIM15318804173410
HP:0001332HP:0012048Oromandibular dystonia3PDGFRB CL E G H5159213600Idiopathic basal ganglia calcification 1213600C0393590OMIM15318804173410
HP:0001332HP:0000643Blepharospasm3PDHA1 CL E G H5160255241ORPHA16798806300502
HP:0001332HP:0000473Torticollis3PDHA1 CL E G H5160255241ORPHA16798806300502
HP:0001332HP:0031008Lingual dystonia3PDHA1 CL E G H5160255241ORPHA16798806300502
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3PDHA1 CL E G H5160255241ORPHA16798806300502
HP:0001332HP:0012048Oromandibular dystonia3PDHA1 CL E G H5160255241ORPHA16798806300502
HP:0001332HP:0000643Blepharospasm3PDHA1 CL E G H5160312170Pyruvate dehydrogenase E1-alpha deficiency312170C1839413OMIM16798806300502
HP:0001332HP:0000473Torticollis3PDHA1 CL E G H5160312170Pyruvate dehydrogenase E1-alpha deficiency312170C1839413OMIM16798806300502
HP:0001332HP:0031008Lingual dystonia3PDHA1 CL E G H5160312170Pyruvate dehydrogenase E1-alpha deficiency312170C1839413OMIM16798806300502
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3PDHA1 CL E G H5160312170Pyruvate dehydrogenase E1-alpha deficiency312170C1839413OMIM16798806300502
HP:0001332HP:0012048Oromandibular dystonia3PDHA1 CL E G H5160312170Pyruvate dehydrogenase E1-alpha deficiency312170C1839413OMIM16798806300502
HP:0001332HP:0000643Blepharospasm3PDHX CL E G H8050245349Pyruvate dehydrogenase E3-binding protein deficiency245349C1855553OMIM137221350608769
HP:0001332HP:0000473Torticollis3PDHX CL E G H8050245349Pyruvate dehydrogenase E3-binding protein deficiency245349C1855553OMIM137221350608769
HP:0001332HP:0031008Lingual dystonia3PDHX CL E G H8050245349Pyruvate dehydrogenase E3-binding protein deficiency245349C1855553OMIM137221350608769
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3PDHX CL E G H8050245349Pyruvate dehydrogenase E3-binding protein deficiency245349C1855553OMIM137221350608769
HP:0001332HP:0012048Oromandibular dystonia3PDHX CL E G H8050245349Pyruvate dehydrogenase E3-binding protein deficiency245349C1855553OMIM137221350608769
HP:0001332HP:0000643Blepharospasm3PET100 CL E G H100131801255241ORPHA17640038614770
HP:0001332HP:0000473Torticollis3PET100 CL E G H100131801255241ORPHA17640038614770
HP:0001332HP:0031008Lingual dystonia3PET100 CL E G H100131801255241ORPHA17640038614770
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3PET100 CL E G H100131801255241ORPHA17640038614770
HP:0001332HP:0012048Oromandibular dystonia3PET100 CL E G H100131801255241ORPHA17640038614770
HP:0001332HP:0000643Blepharospasm3PINK1 CL E G H65018605909Parkinson disease 6, autosomal recessive early-onset605909C1853833OMIM138414581608309
HP:0001332HP:0000473Torticollis3PINK1 CL E G H65018605909Parkinson disease 6, autosomal recessive early-onset605909C1853833OMIM138414581608309
HP:0001332HP:0031008Lingual dystonia3PINK1 CL E G H65018605909Parkinson disease 6, autosomal recessive early-onset605909C1853833OMIM138414581608309
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3PINK1 CL E G H65018605909Parkinson disease 6, autosomal recessive early-onset605909C1853833OMIM138414581608309
HP:0001332HP:0012048Oromandibular dystonia3PINK1 CL E G H65018605909Parkinson disease 6, autosomal recessive early-onset605909C1853833OMIM138414581608309
HP:0001332HP:0000643Blepharospasm3PLA2G6 CL E G H8398610217Neurodegeneration with brain iron accumulation 2b610217C1857747OMIM17759039603604
HP:0001332HP:0000473Torticollis3PLA2G6 CL E G H8398610217Neurodegeneration with brain iron accumulation 2b610217C1857747OMIM17759039603604
HP:0001332HP:0031008Lingual dystonia3PLA2G6 CL E G H8398610217Neurodegeneration with brain iron accumulation 2b610217C1857747OMIM17759039603604
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3PLA2G6 CL E G H8398610217Neurodegeneration with brain iron accumulation 2b610217C1857747OMIM17759039603604
HP:0001332HP:0012048Oromandibular dystonia3PLA2G6 CL E G H8398610217Neurodegeneration with brain iron accumulation 2b610217C1857747OMIM17759039603604
HP:0001332HP:0000643Blepharospasm3PLA2G6 CL E G H8398612953Parkinson disease 14612953C2751842OMIM17759039603604
HP:0001332HP:0000473Torticollis3PLA2G6 CL E G H8398612953Parkinson disease 14612953C2751842OMIM17759039603604
HP:0001332HP:0031008Lingual dystonia3PLA2G6 CL E G H8398612953Parkinson disease 14612953C2751842OMIM17759039603604
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3PLA2G6 CL E G H8398612953Parkinson disease 14612953C2751842OMIM17759039603604
HP:0001332HP:0012048Oromandibular dystonia3PLA2G6 CL E G H8398612953Parkinson disease 14612953C2751842OMIM17759039603604
HP:0001332HP:0000643Blepharospasm3PLAA CL E G H9373521426ORPHA15059043603873
HP:0001332HP:0000473Torticollis3PLAA CL E G H9373521426ORPHA15059043603873
HP:0001332HP:0031008Lingual dystonia3PLAA CL E G H9373521426ORPHA15059043603873
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3PLAA CL E G H9373521426ORPHA15059043603873
HP:0001332HP:0012048Oromandibular dystonia3PLAA CL E G H9373521426ORPHA15059043603873
HP:0001332HP:0000643Blepharospasm3PLP1 CL E G H5354312080Pelizaeus-Merzbacher disease312080C0205711OMIM14519086300401
HP:0001332HP:0000473Torticollis3PLP1 CL E G H5354312080Pelizaeus-Merzbacher disease312080C0205711OMIM14519086300401
HP:0001332HP:0031008Lingual dystonia3PLP1 CL E G H5354312080Pelizaeus-Merzbacher disease312080C0205711OMIM14519086300401
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3PLP1 CL E G H5354312080Pelizaeus-Merzbacher disease312080C0205711OMIM14519086300401
HP:0001332HP:0012048Oromandibular dystonia3PLP1 CL E G H5354312080Pelizaeus-Merzbacher disease312080C0205711OMIM14519086300401
HP:0001332HP:0000643Blepharospasm3PMPCB CL E G H9512617954MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 6617954CN244567OMIM11339119603131
HP:0001332HP:0000473Torticollis3PMPCB CL E G H9512617954MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 6617954CN244567OMIM11339119603131
HP:0001332HP:0031008Lingual dystonia3PMPCB CL E G H9512617954MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 6617954CN244567OMIM11339119603131
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3PMPCB CL E G H9512617954MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 6617954CN244567OMIM11339119603131
HP:0001332HP:0012048Oromandibular dystonia3PMPCB CL E G H9512617954MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 6617954CN244567OMIM11339119603131
HP:0001332HP:0000643Blepharospasm3PNKP CL E G H11284616267Ataxia-oculomotor apraxia 4616267C4225397OMIM110289154605610
HP:0001332HP:0000473Torticollis3PNKP CL E G H11284616267Ataxia-oculomotor apraxia 4616267C4225397OMIM110289154605610
HP:0001332HP:0031008Lingual dystonia3PNKP CL E G H11284616267Ataxia-oculomotor apraxia 4616267C4225397OMIM110289154605610
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3PNKP CL E G H11284616267Ataxia-oculomotor apraxia 4616267C4225397OMIM110289154605610
HP:0001332HP:0012048Oromandibular dystonia3PNKP CL E G H11284616267Ataxia-oculomotor apraxia 4616267C4225397OMIM110289154605610
HP:0001332HP:0000643Blepharospasm3PNPLA8 CL E G H50640251950Mitochondrial myopathy with lactic acidosis251950C1855033OMIM127128900612123
HP:0001332HP:0000473Torticollis3PNPLA8 CL E G H50640251950Mitochondrial myopathy with lactic acidosis251950C1855033OMIM127128900612123
HP:0001332HP:0031008Lingual dystonia3PNPLA8 CL E G H50640251950Mitochondrial myopathy with lactic acidosis251950C1855033OMIM127128900612123
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3PNPLA8 CL E G H50640251950Mitochondrial myopathy with lactic acidosis251950C1855033OMIM127128900612123
HP:0001332HP:0012048Oromandibular dystonia3PNPLA8 CL E G H50640251950Mitochondrial myopathy with lactic acidosis251950C1855033OMIM127128900612123
HP:0001332HP:0000643Blepharospasm3PNPT1 CL E G H87178614932Combined oxidative phosphorylation deficiency 13614932C3554129OMIM176123166610316
HP:0001332HP:0000473Torticollis3PNPT1 CL E G H87178614932Combined oxidative phosphorylation deficiency 13614932C3554129OMIM176123166610316
HP:0001332HP:0031008Lingual dystonia3PNPT1 CL E G H87178614932Combined oxidative phosphorylation deficiency 13614932C3554129OMIM176123166610316
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3PNPT1 CL E G H87178614932Combined oxidative phosphorylation deficiency 13614932C3554129OMIM176123166610316
HP:0001332HP:0012048Oromandibular dystonia3PNPT1 CL E G H87178614932Combined oxidative phosphorylation deficiency 13614932C3554129OMIM176123166610316
HP:0001332HP:0000643Blepharospasm3PODXL CL E G H5420391411ORPHA12009171602632
HP:0001332HP:0000473Torticollis3PODXL CL E G H5420391411ORPHA12009171602632
HP:0001332HP:0031008Lingual dystonia3PODXL CL E G H5420391411ORPHA12009171602632
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3PODXL CL E G H5420391411ORPHA12009171602632
HP:0001332HP:0012048Oromandibular dystonia3PODXL CL E G H5420391411ORPHA12009171602632
HP:0001332HP:0000643Blepharospasm3POLR3A CL E G H11128447896ORPHA1102530074614258
HP:0001332HP:0000473Torticollis3POLR3A CL E G H11128447896ORPHA1102530074614258
HP:0001332HP:0031008Lingual dystonia3POLR3A CL E G H11128447896ORPHA1102530074614258
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3POLR3A CL E G H11128447896ORPHA1102530074614258
HP:0001332HP:0012048Oromandibular dystonia3POLR3A CL E G H11128447896ORPHA1102530074614258
HP:0001332HP:0000643Blepharospasm3POLR3A CL E G H11128607694Hypomyelinating leukodystrophy 7607694C2676243OMIM1102530074614258
HP:0001332HP:0000473Torticollis3POLR3A CL E G H11128607694Hypomyelinating leukodystrophy 7607694C2676243OMIM1102530074614258
HP:0001332HP:0031008Lingual dystonia3POLR3A CL E G H11128607694Hypomyelinating leukodystrophy 7607694C2676243OMIM1102530074614258
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3POLR3A CL E G H11128607694Hypomyelinating leukodystrophy 7607694C2676243OMIM1102530074614258
HP:0001332HP:0012048Oromandibular dystonia3POLR3A CL E G H11128607694Hypomyelinating leukodystrophy 7607694C2676243OMIM1102530074614258
HP:0001332HP:0000643Blepharospasm3POLR3B CL E G H55703607694Hypomyelinating leukodystrophy 7607694C2676243OMIM151030348614366
HP:0001332HP:0000473Torticollis3POLR3B CL E G H55703607694Hypomyelinating leukodystrophy 7607694C2676243OMIM151030348614366
HP:0001332HP:0031008Lingual dystonia3POLR3B CL E G H55703607694Hypomyelinating leukodystrophy 7607694C2676243OMIM151030348614366
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3POLR3B CL E G H55703607694Hypomyelinating leukodystrophy 7607694C2676243OMIM151030348614366
HP:0001332HP:0012048Oromandibular dystonia3POLR3B CL E G H55703607694Hypomyelinating leukodystrophy 7607694C2676243OMIM151030348614366
HP:0001332HP:0000643Blepharospasm3PRKN CL E G H5071600116Parkinson disease 2600116C1868675OMIM17058607602544
HP:0001332HP:0000473Torticollis3PRKN CL E G H5071600116Parkinson disease 2600116C1868675OMIM17058607602544
HP:0001332HP:0031008Lingual dystonia3PRKN CL E G H5071600116Parkinson disease 2600116C1868675OMIM17058607602544
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3PRKN CL E G H5071600116Parkinson disease 2600116C1868675OMIM17058607602544
HP:0001332HP:0012048Oromandibular dystonia3PRKN CL E G H5071600116Parkinson disease 2600116C1868675OMIM17058607602544
HP:0001332HP:0000643Blepharospasm3PSAP CL E G H5660139406ORPHA17729498176801
HP:0001332HP:0000473Torticollis3PSAP CL E G H5660139406ORPHA17729498176801
HP:0001332HP:0031008Lingual dystonia3PSAP CL E G H5660139406ORPHA17729498176801
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3PSAP CL E G H5660139406ORPHA17729498176801
HP:0001332HP:0012048Oromandibular dystonia3PSAP CL E G H5660139406ORPHA17729498176801
HP:0001332HP:0000643Blepharospasm3PSAP CL E G H5660309256ORPHA17729498176801
HP:0001332HP:0000473Torticollis3PSAP CL E G H5660309256ORPHA17729498176801
HP:0001332HP:0031008Lingual dystonia3PSAP CL E G H5660309256ORPHA17729498176801
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3PSAP CL E G H5660309256ORPHA17729498176801
HP:0001332HP:0012048Oromandibular dystonia3PSAP CL E G H5660309256ORPHA17729498176801
HP:0001332HP:0000643Blepharospasm3PSAP CL E G H5660309263ORPHA17729498176801
HP:0001332HP:0000473Torticollis3PSAP CL E G H5660309263ORPHA17729498176801
HP:0001332HP:0031008Lingual dystonia3PSAP CL E G H5660309263ORPHA17729498176801
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3PSAP CL E G H5660309263ORPHA17729498176801
HP:0001332HP:0012048Oromandibular dystonia3PSAP CL E G H5660309263ORPHA17729498176801
HP:0001332HP:0000643Blepharospasm3PSAP CL E G H5660309271ORPHA17729498176801
HP:0001332HP:0000473Torticollis3PSAP CL E G H5660309271ORPHA17729498176801
HP:0001332HP:0031008Lingual dystonia3PSAP CL E G H5660309271ORPHA17729498176801
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3PSAP CL E G H5660309271ORPHA17729498176801
HP:0001332HP:0012048Oromandibular dystonia3PSAP CL E G H5660309271ORPHA17729498176801
HP:0001332HP:0000643Blepharospasm3PSEN1 CL E G H5663607822Alzheimer disease, type 3607822C1843013OMIM15019508104311
HP:0001332HP:0000473Torticollis3PSEN1 CL E G H5663607822Alzheimer disease, type 3607822C1843013OMIM15019508104311
HP:0001332HP:0031008Lingual dystonia3PSEN1 CL E G H5663607822Alzheimer disease, type 3607822C1843013OMIM15019508104311
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3PSEN1 CL E G H5663607822Alzheimer disease, type 3607822C1843013OMIM15019508104311
HP:0001332HP:0012048Oromandibular dystonia3PSEN1 CL E G H5663607822Alzheimer disease, type 3607822C1843013OMIM15019508104311
HP:0001332HP:0000643Blepharospasm3PTS CL E G H58052616406-pyruvoyl-tetrahydropterin synthase deficiency261640C0878676OMIM12639689612719
HP:0001332HP:0000473Torticollis3PTS CL E G H58052616406-pyruvoyl-tetrahydropterin synthase deficiency261640C0878676OMIM12639689612719
HP:0001332HP:0031008Lingual dystonia3PTS CL E G H58052616406-pyruvoyl-tetrahydropterin synthase deficiency261640C0878676OMIM12639689612719
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3PTS CL E G H58052616406-pyruvoyl-tetrahydropterin synthase deficiency261640C0878676OMIM12639689612719
HP:0001332HP:0012048Oromandibular dystonia3PTS CL E G H58052616406-pyruvoyl-tetrahydropterin synthase deficiency261640C0878676OMIM12639689612719
HP:0001332HP:0000643Blepharospasm3QDPR CL E G H5860261630Dihydropteridine reductase deficiency261630C0268465OMIM13199752612676
HP:0001332HP:0000473Torticollis3QDPR CL E G H5860261630Dihydropteridine reductase deficiency261630C0268465OMIM13199752612676
HP:0001332HP:0031008Lingual dystonia3QDPR CL E G H5860261630Dihydropteridine reductase deficiency261630C0268465OMIM13199752612676
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3QDPR CL E G H5860261630Dihydropteridine reductase deficiency261630C0268465OMIM13199752612676
HP:0001332HP:0012048Oromandibular dystonia3QDPR CL E G H5860261630Dihydropteridine reductase deficiency261630C0268465OMIM13199752612676
HP:0001332HP:0000643Blepharospasm3RAB11B CL E G H9230617807NEURODEVELOPMENTAL DISORDER WITH ATAXIC GAIT, ABSENT SPEECH, AND DECREASED CORTICAL WHITE MATTER617807C4540498OMIM11619761604198
HP:0001332HP:0000473Torticollis3RAB11B CL E G H9230617807NEURODEVELOPMENTAL DISORDER WITH ATAXIC GAIT, ABSENT SPEECH, AND DECREASED CORTICAL WHITE MATTER617807C4540498OMIM11619761604198
HP:0001332HP:0031008Lingual dystonia3RAB11B CL E G H9230617807NEURODEVELOPMENTAL DISORDER WITH ATAXIC GAIT, ABSENT SPEECH, AND DECREASED CORTICAL WHITE MATTER617807C4540498OMIM11619761604198
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3RAB11B CL E G H9230617807NEURODEVELOPMENTAL DISORDER WITH ATAXIC GAIT, ABSENT SPEECH, AND DECREASED CORTICAL WHITE MATTER617807C4540498OMIM11619761604198
HP:0001332HP:0012048Oromandibular dystonia3RAB11B CL E G H9230617807NEURODEVELOPMENTAL DISORDER WITH ATAXIC GAIT, ABSENT SPEECH, AND DECREASED CORTICAL WHITE MATTER617807C4540498OMIM11619761604198
HP:0001332HP:0000643Blepharospasm3RARS CL E G H5917438114ORPHA19870107820
HP:0001332HP:0000473Torticollis3RARS CL E G H5917438114ORPHA19870107820
HP:0001332HP:0031008Lingual dystonia3RARS CL E G H5917438114ORPHA19870107820
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3RARS CL E G H5917438114ORPHA19870107820
HP:0001332HP:0012048Oromandibular dystonia3RARS CL E G H5917438114ORPHA19870107820
HP:0001332HP:0000643Blepharospasm3RHOBTB2 CL E G H23221618004EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 64618004CN248512OMIM159218756607352
HP:0001332HP:0000473Torticollis3RHOBTB2 CL E G H23221618004EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 64618004CN248512OMIM159218756607352
HP:0001332HP:0031008Lingual dystonia3RHOBTB2 CL E G H23221618004EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 64618004CN248512OMIM159218756607352
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3RHOBTB2 CL E G H23221618004EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 64618004CN248512OMIM159218756607352
HP:0001332HP:0012048Oromandibular dystonia3RHOBTB2 CL E G H23221618004EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 64618004CN248512OMIM159218756607352
HP:0001332HP:0000643Blepharospasm3RNASEH2A CL E G H1053551ORPHA140418518606034
HP:0001332HP:0000473Torticollis3RNASEH2A CL E G H1053551ORPHA140418518606034
HP:0001332HP:0031008Lingual dystonia3RNASEH2A CL E G H1053551ORPHA140418518606034
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3RNASEH2A CL E G H1053551ORPHA140418518606034
HP:0001332HP:0012048Oromandibular dystonia3RNASEH2A CL E G H1053551ORPHA140418518606034
HP:0001332HP:0000643Blepharospasm3RNASEH2A CL E G H10535610333Aicardi Goutieres syndrome 4610333C1835912OMIM140418518606034
HP:0001332HP:0000473Torticollis3RNASEH2A CL E G H10535610333Aicardi Goutieres syndrome 4610333C1835912OMIM140418518606034
HP:0001332HP:0031008Lingual dystonia3RNASEH2A CL E G H10535610333Aicardi Goutieres syndrome 4610333C1835912OMIM140418518606034
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3RNASEH2A CL E G H10535610333Aicardi Goutieres syndrome 4610333C1835912OMIM140418518606034
HP:0001332HP:0012048Oromandibular dystonia3RNASEH2A CL E G H10535610333Aicardi Goutieres syndrome 4610333C1835912OMIM140418518606034
HP:0001332HP:0000643Blepharospasm3RNASEH2B CL E G H7962151ORPHA142625671610326
HP:0001332HP:0000473Torticollis3RNASEH2B CL E G H7962151ORPHA142625671610326
HP:0001332HP:0031008Lingual dystonia3RNASEH2B CL E G H7962151ORPHA142625671610326
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3RNASEH2B CL E G H7962151ORPHA142625671610326
HP:0001332HP:0012048Oromandibular dystonia3RNASEH2B CL E G H7962151ORPHA142625671610326
HP:0001332HP:0000643Blepharospasm3RNASEH2C CL E G H8415351ORPHA130724116610330
HP:0001332HP:0000473Torticollis3RNASEH2C CL E G H8415351ORPHA130724116610330
HP:0001332HP:0031008Lingual dystonia3RNASEH2C CL E G H8415351ORPHA130724116610330
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3RNASEH2C CL E G H8415351ORPHA130724116610330
HP:0001332HP:0012048Oromandibular dystonia3RNASEH2C CL E G H8415351ORPHA130724116610330
HP:0001332HP:0000643Blepharospasm3RNASEH2C CL E G H84153610329Aicardi Goutieres syndrome 3610329C1835916OMIM130724116610330
HP:0001332HP:0000473Torticollis3RNASEH2C CL E G H84153610329Aicardi Goutieres syndrome 3610329C1835916OMIM130724116610330
HP:0001332HP:0031008Lingual dystonia3RNASEH2C CL E G H84153610329Aicardi Goutieres syndrome 3610329C1835916OMIM130724116610330
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3RNASEH2C CL E G H84153610329Aicardi Goutieres syndrome 3610329C1835916OMIM130724116610330
HP:0001332HP:0012048Oromandibular dystonia3RNASEH2C CL E G H84153610329Aicardi Goutieres syndrome 3610329C1835916OMIM130724116610330
HP:0001332HP:0000643Blepharospasm3SAMHD1 CL E G H2593951ORPHA174615925606754
HP:0001332HP:0000473Torticollis3SAMHD1 CL E G H2593951ORPHA174615925606754
HP:0001332HP:0031008Lingual dystonia3SAMHD1 CL E G H2593951ORPHA174615925606754
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3SAMHD1 CL E G H2593951ORPHA174615925606754
HP:0001332HP:0012048Oromandibular dystonia3SAMHD1 CL E G H2593951ORPHA174615925606754
HP:0001332HP:0000643Blepharospasm3SDHA CL E G H6389255241ORPHA1250310680600857
HP:0001332HP:0000473Torticollis3SDHA CL E G H6389255241ORPHA1250310680600857
HP:0001332HP:0031008Lingual dystonia3SDHA CL E G H6389255241ORPHA1250310680600857
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3SDHA CL E G H6389255241ORPHA1250310680600857
HP:0001332HP:0012048Oromandibular dystonia3SDHA CL E G H6389255241ORPHA1250310680600857
HP:0001332HP:0000643Blepharospasm3SDHA CL E G H6389256000Leigh syndrome256000C0023264OMIM1250310680600857
HP:0001332HP:0000473Torticollis3SDHA CL E G H6389256000Leigh syndrome256000C0023264OMIM1250310680600857
HP:0001332HP:0031008Lingual dystonia3SDHA CL E G H6389256000Leigh syndrome256000C0023264OMIM1250310680600857
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3SDHA CL E G H6389256000Leigh syndrome256000C0023264OMIM1250310680600857
HP:0001332HP:0012048Oromandibular dystonia3SDHA CL E G H6389256000Leigh syndrome256000C0023264OMIM1250310680600857
HP:0001332HP:0000643Blepharospasm3SDHA CL E G H6389252011Mitochondrial complex II deficiency252011C1855008OMIM1250310680600857
HP:0001332HP:0000473Torticollis3SDHA CL E G H6389252011Mitochondrial complex II deficiency252011C1855008OMIM1250310680600857
HP:0001332HP:0031008Lingual dystonia3SDHA CL E G H6389252011Mitochondrial complex II deficiency252011C1855008OMIM1250310680600857
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3SDHA CL E G H6389252011Mitochondrial complex II deficiency252011C1855008OMIM1250310680600857
HP:0001332HP:0012048Oromandibular dystonia3SDHA CL E G H6389252011Mitochondrial complex II deficiency252011C1855008OMIM1250310680600857
HP:0001332HP:0000643Blepharospasm3SDHAF1 CL E G H644096252011Mitochondrial complex II deficiency252011C1855008OMIM17733867612848
HP:0001332HP:0000473Torticollis3SDHAF1 CL E G H644096252011Mitochondrial complex II deficiency252011C1855008OMIM17733867612848
HP:0001332HP:0031008Lingual dystonia3SDHAF1 CL E G H644096252011Mitochondrial complex II deficiency252011C1855008OMIM17733867612848
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3SDHAF1 CL E G H644096252011Mitochondrial complex II deficiency252011C1855008OMIM17733867612848
HP:0001332HP:0012048Oromandibular dystonia3SDHAF1 CL E G H644096252011Mitochondrial complex II deficiency252011C1855008OMIM17733867612848
HP:0001332HP:0000643Blepharospasm3SDHD CL E G H6392252011Mitochondrial complex II deficiency252011C1855008OMIM168610683602690
HP:0001332HP:0000473Torticollis3SDHD CL E G H6392252011Mitochondrial complex II deficiency252011C1855008OMIM168610683602690
HP:0001332HP:0031008Lingual dystonia3SDHD CL E G H6392252011Mitochondrial complex II deficiency252011C1855008OMIM168610683602690
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3SDHD CL E G H6392252011Mitochondrial complex II deficiency252011C1855008OMIM168610683602690
HP:0001332HP:0012048Oromandibular dystonia3SDHD CL E G H6392252011Mitochondrial complex II deficiency252011C1855008OMIM168610683602690
HP:0001332HP:0000643Blepharospasm3SERAC1 CL E G H849476147393-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome614739C3553597OMIM140021061614725
HP:0001332HP:0000473Torticollis3SERAC1 CL E G H849476147393-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome614739C3553597OMIM140021061614725
HP:0001332HP:0031008Lingual dystonia3SERAC1 CL E G H849476147393-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome614739C3553597OMIM140021061614725
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3SERAC1 CL E G H849476147393-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome614739C3553597OMIM140021061614725
HP:0001332HP:0012048Oromandibular dystonia3SERAC1 CL E G H849476147393-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome614739C3553597OMIM140021061614725
HP:0001332HP:0000643Blepharospasm3SLC19A3 CL E G H80704255241ORPHA156316266606152
HP:0001332HP:0000473Torticollis3SLC19A3 CL E G H80704255241ORPHA156316266606152
HP:0001332HP:0031008Lingual dystonia3SLC19A3 CL E G H80704255241ORPHA156316266606152
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3SLC19A3 CL E G H80704255241ORPHA156316266606152
HP:0001332HP:0012048Oromandibular dystonia3SLC19A3 CL E G H80704255241ORPHA156316266606152
HP:0001332HP:0000643Blepharospasm3SLC19A3 CL E G H80704607483Basal ganglia disease, biotin-responsive607483C1843807OMIM156316266606152
HP:0001332HP:0000473Torticollis3SLC19A3 CL E G H80704607483Basal ganglia disease, biotin-responsive607483C1843807OMIM156316266606152
HP:0001332HP:0031008Lingual dystonia3SLC19A3 CL E G H80704607483Basal ganglia disease, biotin-responsive607483C1843807OMIM156316266606152
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3SLC19A3 CL E G H80704607483Basal ganglia disease, biotin-responsive607483C1843807OMIM156316266606152
HP:0001332HP:0012048Oromandibular dystonia3SLC19A3 CL E G H80704607483Basal ganglia disease, biotin-responsive607483C1843807OMIM156316266606152
HP:0001332HP:0000643Blepharospasm3SLC20A2 CL E G H6575213600Idiopathic basal ganglia calcification 1213600C0393590OMIM133710947158378
HP:0001332HP:0000473Torticollis3SLC20A2 CL E G H6575213600Idiopathic basal ganglia calcification 1213600C0393590OMIM133710947158378
HP:0001332HP:0031008Lingual dystonia3SLC20A2 CL E G H6575213600Idiopathic basal ganglia calcification 1213600C0393590OMIM133710947158378
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3SLC20A2 CL E G H6575213600Idiopathic basal ganglia calcification 1213600C0393590OMIM133710947158378
HP:0001332HP:0012048Oromandibular dystonia3SLC20A2 CL E G H6575213600Idiopathic basal ganglia calcification 1213600C0393590OMIM133710947158378
HP:0001332HP:0000643Blepharospasm3SLC2A1 CL E G H651353583ORPHA196511005138140
HP:0001332HP:0000473Torticollis3SLC2A1 CL E G H651353583ORPHA196511005138140
HP:0001332HP:0031008Lingual dystonia3SLC2A1 CL E G H651353583ORPHA196511005138140
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3SLC2A1 CL E G H651353583ORPHA196511005138140
HP:0001332HP:0012048Oromandibular dystonia3SLC2A1 CL E G H651353583ORPHA196511005138140
HP:0001332HP:0000643Blepharospasm3SLC2A1 CL E G H651371277ORPHA196511005138140
HP:0001332HP:0000473Torticollis3SLC2A1 CL E G H651371277ORPHA196511005138140
HP:0001332HP:0031008Lingual dystonia3SLC2A1 CL E G H651371277ORPHA196511005138140
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3SLC2A1 CL E G H651371277ORPHA196511005138140
HP:0001332HP:0012048Oromandibular dystonia3SLC2A1 CL E G H651371277ORPHA196511005138140
HP:0001332HP:0000643Blepharospasm3SLC2A1 CL E G H6513601042Dystonia 9601042C1832855OMIM196511005138140
HP:0001332HP:0000473Torticollis3SLC2A1 CL E G H6513601042Dystonia 9601042C1832855OMIM196511005138140
HP:0001332HP:0031008Lingual dystonia3SLC2A1 CL E G H6513601042Dystonia 9601042C1832855OMIM196511005138140
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3SLC2A1 CL E G H6513601042Dystonia 9601042C1832855OMIM196511005138140
HP:0001332HP:0012048Oromandibular dystonia3SLC2A1 CL E G H6513601042Dystonia 9601042C1832855OMIM196511005138140
HP:0001332HP:0000643Blepharospasm3SLC2A1 CL E G H6513612126GLUT1 deficiency syndrome 2612126C1842534OMIM196511005138140
HP:0001332HP:0000473Torticollis3SLC2A1 CL E G H6513612126GLUT1 deficiency syndrome 2612126C1842534OMIM196511005138140
HP:0001332HP:0031008Lingual dystonia3SLC2A1 CL E G H6513612126GLUT1 deficiency syndrome 2612126C1842534OMIM196511005138140
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3SLC2A1 CL E G H6513612126GLUT1 deficiency syndrome 2612126C1842534OMIM196511005138140
HP:0001332HP:0012048Oromandibular dystonia3SLC2A1 CL E G H6513612126GLUT1 deficiency syndrome 2612126C1842534OMIM196511005138140
HP:0001332HP:0000643Blepharospasm3SLC30A10 CL E G H55532309854ORPHA127525355611146
HP:0001332HP:0000473Torticollis3SLC30A10 CL E G H55532309854ORPHA127525355611146
HP:0001332HP:0031008Lingual dystonia3SLC30A10 CL E G H55532309854ORPHA127525355611146
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3SLC30A10 CL E G H55532309854ORPHA127525355611146
HP:0001332HP:0012048Oromandibular dystonia3SLC30A10 CL E G H55532309854ORPHA127525355611146
HP:0001332HP:0000643Blepharospasm3SLC30A10 CL E G H55532613280Hypermanganesemia with dystonia 1613280OMIM127525355611146
HP:0001332HP:0000473Torticollis3SLC30A10 CL E G H55532613280Hypermanganesemia with dystonia 1613280OMIM127525355611146
HP:0001332HP:0031008Lingual dystonia3SLC30A10 CL E G H55532613280Hypermanganesemia with dystonia 1613280OMIM127525355611146
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3SLC30A10 CL E G H55532613280Hypermanganesemia with dystonia 1613280OMIM127525355611146
HP:0001332HP:0012048Oromandibular dystonia3SLC30A10 CL E G H55532613280Hypermanganesemia with dystonia 1613280OMIM127525355611146
HP:0001332HP:0000643Blepharospasm3SLC30A9 CL E G H10463617595Birk-Landau-Perez syndrome617595C4539828OMIM1451329604604
HP:0001332HP:0000473Torticollis3SLC30A9 CL E G H10463617595Birk-Landau-Perez syndrome617595C4539828OMIM1451329604604
HP:0001332HP:0031008Lingual dystonia3SLC30A9 CL E G H10463617595Birk-Landau-Perez syndrome617595C4539828OMIM1451329604604
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3SLC30A9 CL E G H10463617595Birk-Landau-Perez syndrome617595C4539828OMIM1451329604604
HP:0001332HP:0012048Oromandibular dystonia3SLC30A9 CL E G H10463617595Birk-Landau-Perez syndrome617595C4539828OMIM1451329604604
HP:0001332HP:0000643Blepharospasm3SLC6A8 CL E G H653552503ORPHA1106211055300036
HP:0001332HP:0000473Torticollis3SLC6A8 CL E G H653552503ORPHA1106211055300036
HP:0001332HP:0031008Lingual dystonia3SLC6A8 CL E G H653552503ORPHA1106211055300036
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3SLC6A8 CL E G H653552503ORPHA1106211055300036
HP:0001332HP:0012048Oromandibular dystonia3SLC6A8 CL E G H653552503ORPHA1106211055300036
HP:0001332HP:0000643Blepharospasm3SLC6A8 CL E G H6535300352Creatine deficiency, X-linked300352C1845862OMIM1106211055300036
HP:0001332HP:0000473Torticollis3SLC6A8 CL E G H6535300352Creatine deficiency, X-linked300352C1845862OMIM1106211055300036
HP:0001332HP:0031008Lingual dystonia3SLC6A8 CL E G H6535300352Creatine deficiency, X-linked300352C1845862OMIM1106211055300036
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3SLC6A8 CL E G H6535300352Creatine deficiency, X-linked300352C1845862OMIM1106211055300036
HP:0001332HP:0012048Oromandibular dystonia3SLC6A8 CL E G H6535300352Creatine deficiency, X-linked300352C1845862OMIM1106211055300036
HP:0001332HP:0000643Blepharospasm3SLC9A6 CL E G H1047985278ORPHA161211079300231
HP:0001332HP:0000473Torticollis3SLC9A6 CL E G H1047985278ORPHA161211079300231
HP:0001332HP:0031008Lingual dystonia3SLC9A6 CL E G H1047985278ORPHA161211079300231
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3SLC9A6 CL E G H1047985278ORPHA161211079300231
HP:0001332HP:0012048Oromandibular dystonia3SLC9A6 CL E G H1047985278ORPHA161211079300231
HP:0001332HP:0000643Blepharospasm3SNCA CL E G H6622171695ORPHA119311138163890
HP:0001332HP:0000473Torticollis3SNCA CL E G H6622171695ORPHA119311138163890
HP:0001332HP:0031008Lingual dystonia3SNCA CL E G H6622171695ORPHA119311138163890
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3SNCA CL E G H6622171695ORPHA119311138163890
HP:0001332HP:0012048Oromandibular dystonia3SNCA CL E G H6622171695ORPHA119311138163890
HP:0001332HP:0000643Blepharospasm3SNCA CL E G H6622168601Parkinson disease 1168601C1868595OMIM119311138163890
HP:0001332HP:0000473Torticollis3SNCA CL E G H6622168601Parkinson disease 1168601C1868595OMIM119311138163890
HP:0001332HP:0031008Lingual dystonia3SNCA CL E G H6622168601Parkinson disease 1168601C1868595OMIM119311138163890
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3SNCA CL E G H6622168601Parkinson disease 1168601C1868595OMIM119311138163890
HP:0001332HP:0012048Oromandibular dystonia3SNCA CL E G H6622168601Parkinson disease 1168601C1868595OMIM119311138163890
HP:0001332HP:0000643Blepharospasm3SNCAIP CL E G H9627168600Parkinson disease, late-onset168600C3160718OMIM116011139603779
HP:0001332HP:0000473Torticollis3SNCAIP CL E G H9627168600Parkinson disease, late-onset168600C3160718OMIM116011139603779
HP:0001332HP:0031008Lingual dystonia3SNCAIP CL E G H9627168600Parkinson disease, late-onset168600C3160718OMIM116011139603779
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3SNCAIP CL E G H9627168600Parkinson disease, late-onset168600C3160718OMIM116011139603779
HP:0001332HP:0012048Oromandibular dystonia3SNCAIP CL E G H9627168600Parkinson disease, late-onset168600C3160718OMIM116011139603779
HP:0001332HP:0000643Blepharospasm3SNORD118 CL E G H727676614561Leukoencephalopathy, brain calcifications, and cysts614561C3281200OMIM118932952616663
HP:0001332HP:0000473Torticollis3SNORD118 CL E G H727676614561Leukoencephalopathy, brain calcifications, and cysts614561C3281200OMIM118932952616663
HP:0001332HP:0031008Lingual dystonia3SNORD118 CL E G H727676614561Leukoencephalopathy, brain calcifications, and cysts614561C3281200OMIM118932952616663
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3SNORD118 CL E G H727676614561Leukoencephalopathy, brain calcifications, and cysts614561C3281200OMIM118932952616663
HP:0001332HP:0012048Oromandibular dystonia3SNORD118 CL E G H727676614561Leukoencephalopathy, brain calcifications, and cysts614561C3281200OMIM118932952616663
HP:0001332HP:0000643Blepharospasm3SPR CL E G H6697612716Sepiapterin reductase deficiency612716C0268468OMIM119811257182125
HP:0001332HP:0000473Torticollis3SPR CL E G H6697612716Sepiapterin reductase deficiency612716C0268468OMIM119811257182125
HP:0001332HP:0031008Lingual dystonia3SPR CL E G H6697612716Sepiapterin reductase deficiency612716C0268468OMIM119811257182125
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3SPR CL E G H6697612716Sepiapterin reductase deficiency612716C0268468OMIM119811257182125
HP:0001332HP:0012048Oromandibular dystonia3SPR CL E G H6697612716Sepiapterin reductase deficiency612716C0268468OMIM119811257182125
HP:0001332HP:0000643Blepharospasm3SQSTM1 CL E G H8878617145Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset617145C4310693OMIM167711280601530
HP:0001332HP:0000473Torticollis3SQSTM1 CL E G H8878617145Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset617145C4310693OMIM167711280601530
HP:0001332HP:0031008Lingual dystonia3SQSTM1 CL E G H8878617145Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset617145C4310693OMIM167711280601530
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3SQSTM1 CL E G H8878617145Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset617145C4310693OMIM167711280601530
HP:0001332HP:0012048Oromandibular dystonia3SQSTM1 CL E G H8878617145Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset617145C4310693OMIM167711280601530
HP:0001332HP:0000643Blepharospasm3STN1 CL E G H79991617341Cerebroretinal microangiopathy with calcifications and cysts 2617341C4479220OMIM122526200613128
HP:0001332HP:0000473Torticollis3STN1 CL E G H79991617341Cerebroretinal microangiopathy with calcifications and cysts 2617341C4479220OMIM122526200613128
HP:0001332HP:0031008Lingual dystonia3STN1 CL E G H79991617341Cerebroretinal microangiopathy with calcifications and cysts 2617341C4479220OMIM122526200613128
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3STN1 CL E G H79991617341Cerebroretinal microangiopathy with calcifications and cysts 2617341C4479220OMIM122526200613128
HP:0001332HP:0012048Oromandibular dystonia3STN1 CL E G H79991617341Cerebroretinal microangiopathy with calcifications and cysts 2617341C4479220OMIM122526200613128
HP:0001332HP:0000643Blepharospasm3SUCLA2 CL E G H8803612073Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)612073C2749864OMIM141311448603921
HP:0001332HP:0000473Torticollis3SUCLA2 CL E G H8803612073Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)612073C2749864OMIM141311448603921
HP:0001332HP:0031008Lingual dystonia3SUCLA2 CL E G H8803612073Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)612073C2749864OMIM141311448603921
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3SUCLA2 CL E G H8803612073Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)612073C2749864OMIM141311448603921
HP:0001332HP:0012048Oromandibular dystonia3SUCLA2 CL E G H8803612073Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)612073C2749864OMIM141311448603921
HP:0001332HP:0000643Blepharospasm3SURF1 CL E G H6834255241ORPHA153211474185620
HP:0001332HP:0000473Torticollis3SURF1 CL E G H6834255241ORPHA153211474185620
HP:0001332HP:0031008Lingual dystonia3SURF1 CL E G H6834255241ORPHA153211474185620
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3SURF1 CL E G H6834255241ORPHA153211474185620
HP:0001332HP:0012048Oromandibular dystonia3SURF1 CL E G H6834255241ORPHA153211474185620
HP:0001332HP:0000643Blepharospasm3SURF1 CL E G H6834616684Charcot-Marie-Tooth disease, type 4k616684C4225246OMIM153211474185620
HP:0001332HP:0000473Torticollis3SURF1 CL E G H6834616684Charcot-Marie-Tooth disease, type 4k616684C4225246OMIM153211474185620
HP:0001332HP:0031008Lingual dystonia3SURF1 CL E G H6834616684Charcot-Marie-Tooth disease, type 4k616684C4225246OMIM153211474185620
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3SURF1 CL E G H6834616684Charcot-Marie-Tooth disease, type 4k616684C4225246OMIM153211474185620
HP:0001332HP:0012048Oromandibular dystonia3SURF1 CL E G H6834616684Charcot-Marie-Tooth disease, type 4k616684C4225246OMIM153211474185620
HP:0001332HP:0000643Blepharospasm3SURF1 CL E G H6834256000Leigh syndrome256000C0023264OMIM153211474185620
HP:0001332HP:0000473Torticollis3SURF1 CL E G H6834256000Leigh syndrome256000C0023264OMIM153211474185620
HP:0001332HP:0031008Lingual dystonia3SURF1 CL E G H6834256000Leigh syndrome256000C0023264OMIM153211474185620
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3SURF1 CL E G H6834256000Leigh syndrome256000C0023264OMIM153211474185620
HP:0001332HP:0012048Oromandibular dystonia3SURF1 CL E G H6834256000Leigh syndrome256000C0023264OMIM153211474185620
HP:0001332HP:0000643Blepharospasm3SYNJ1 CL E G H8867391411ORPHA1131511503604297
HP:0001332HP:0000473Torticollis3SYNJ1 CL E G H8867391411ORPHA1131511503604297
HP:0001332HP:0031008Lingual dystonia3SYNJ1 CL E G H8867391411ORPHA1131511503604297
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3SYNJ1 CL E G H8867391411ORPHA1131511503604297
HP:0001332HP:0012048Oromandibular dystonia3SYNJ1 CL E G H8867391411ORPHA1131511503604297
HP:0001332HP:0000643Blepharospasm3SYNJ1 CL E G H8867615530Parkinson disease 20, early-onset615530C3809824OMIM1131511503604297
HP:0001332HP:0000473Torticollis3SYNJ1 CL E G H8867615530Parkinson disease 20, early-onset615530C3809824OMIM1131511503604297
HP:0001332HP:0031008Lingual dystonia3SYNJ1 CL E G H8867615530Parkinson disease 20, early-onset615530C3809824OMIM1131511503604297
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3SYNJ1 CL E G H8867615530Parkinson disease 20, early-onset615530C3809824OMIM1131511503604297
HP:0001332HP:0012048Oromandibular dystonia3SYNJ1 CL E G H8867615530Parkinson disease 20, early-onset615530C3809824OMIM1131511503604297
HP:0001332HP:0000643Blepharospasm3SYT1 CL E G H6857618218BAKER-GORDON SYNDROME618218OMIM17611509185605
HP:0001332HP:0000473Torticollis3SYT1 CL E G H6857618218BAKER-GORDON SYNDROME618218OMIM17611509185605
HP:0001332HP:0031008Lingual dystonia3SYT1 CL E G H6857618218BAKER-GORDON SYNDROME618218OMIM17611509185605
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3SYT1 CL E G H6857618218BAKER-GORDON SYNDROME618218OMIM17611509185605
HP:0001332HP:0012048Oromandibular dystonia3SYT1 CL E G H6857618218BAKER-GORDON SYNDROME618218OMIM17611509185605
HP:0001332HP:0000643Blepharospasm3TACO1 CL E G H51204255241ORPHA111724316612958
HP:0001332HP:0000473Torticollis3TACO1 CL E G H51204255241ORPHA111724316612958
HP:0001332HP:0031008Lingual dystonia3TACO1 CL E G H51204255241ORPHA111724316612958
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3TACO1 CL E G H51204255241ORPHA111724316612958
HP:0001332HP:0012048Oromandibular dystonia3TACO1 CL E G H51204255241ORPHA111724316612958
HP:0001332HP:0000643Blepharospasm3TBC1D24 CL E G H57465352596ORPHA189329203613577
HP:0001332HP:0000473Torticollis3TBC1D24 CL E G H57465352596ORPHA189329203613577
HP:0001332HP:0031008Lingual dystonia3TBC1D24 CL E G H57465352596ORPHA189329203613577
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3TBC1D24 CL E G H57465352596ORPHA189329203613577
HP:0001332HP:0012048Oromandibular dystonia3TBC1D24 CL E G H57465352596ORPHA189329203613577
HP:0001332HP:0000643Blepharospasm3TBC1D24 CL E G H57465615338Early infantile epileptic encephalopathy 16615338C3809173OMIM189329203613577
HP:0001332HP:0000473Torticollis3TBC1D24 CL E G H57465615338Early infantile epileptic encephalopathy 16615338C3809173OMIM189329203613577
HP:0001332HP:0031008Lingual dystonia3TBC1D24 CL E G H57465615338Early infantile epileptic encephalopathy 16615338C3809173OMIM189329203613577
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3TBC1D24 CL E G H57465615338Early infantile epileptic encephalopathy 16615338C3809173OMIM189329203613577
HP:0001332HP:0012048Oromandibular dystonia3TBC1D24 CL E G H57465615338Early infantile epileptic encephalopathy 16615338C3809173OMIM189329203613577
HP:0001332HP:0000643Blepharospasm3TBP CL E G H6908607136Spinocerebellar ataxia 17607136C1846707OMIM113111588600075
HP:0001332HP:0000473Torticollis3TBP CL E G H6908607136Spinocerebellar ataxia 17607136C1846707OMIM113111588600075
HP:0001332HP:0031008Lingual dystonia3TBP CL E G H6908607136Spinocerebellar ataxia 17607136C1846707OMIM113111588600075
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3TBP CL E G H6908607136Spinocerebellar ataxia 17607136C1846707OMIM113111588600075
HP:0001332HP:0012048Oromandibular dystonia3TBP CL E G H6908607136Spinocerebellar ataxia 17607136C1846707OMIM113111588600075
HP:0001332HP:0000643Blepharospasm3TIMM8A CL E G H1678304700Mohr-Tranebjaerg syndrome304700C0796074OMIM122711817300356
HP:0001332HP:0000473Torticollis3TIMM8A CL E G H1678304700Mohr-Tranebjaerg syndrome304700C0796074OMIM122711817300356
HP:0001332HP:0031008Lingual dystonia3TIMM8A CL E G H1678304700Mohr-Tranebjaerg syndrome304700C0796074OMIM122711817300356
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3TIMM8A CL E G H1678304700Mohr-Tranebjaerg syndrome304700C0796074OMIM122711817300356
HP:0001332HP:0012048Oromandibular dystonia3TIMM8A CL E G H1678304700Mohr-Tranebjaerg syndrome304700C0796074OMIM122711817300356
HP:0001332HP:0000643Blepharospasm3TMEM106B CL E G H54664617964LEUKODYSTROPHY, HYPOMYELINATING, 16617964CN244907OMIM112822407613413
HP:0001332HP:0000473Torticollis3TMEM106B CL E G H54664617964LEUKODYSTROPHY, HYPOMYELINATING, 16617964CN244907OMIM112822407613413
HP:0001332HP:0031008Lingual dystonia3TMEM106B CL E G H54664617964LEUKODYSTROPHY, HYPOMYELINATING, 16617964CN244907OMIM112822407613413
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3TMEM106B CL E G H54664617964LEUKODYSTROPHY, HYPOMYELINATING, 16617964CN244907OMIM112822407613413
HP:0001332HP:0012048Oromandibular dystonia3TMEM106B CL E G H54664617964LEUKODYSTROPHY, HYPOMYELINATING, 16617964CN244907OMIM112822407613413
HP:0001332HP:0000643Blepharospasm3TPI1 CL E G H7167615512Triosephosphate isomerase deficiency615512C1860808OMIM118112009190450
HP:0001332HP:0000473Torticollis3TPI1 CL E G H7167615512Triosephosphate isomerase deficiency615512C1860808OMIM118112009190450
HP:0001332HP:0031008Lingual dystonia3TPI1 CL E G H7167615512Triosephosphate isomerase deficiency615512C1860808OMIM118112009190450
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3TPI1 CL E G H7167615512Triosephosphate isomerase deficiency615512C1860808OMIM118112009190450
HP:0001332HP:0012048Oromandibular dystonia3TPI1 CL E G H7167615512Triosephosphate isomerase deficiency615512C1860808OMIM118112009190450
HP:0001332HP:0000643Blepharospasm3TPK1 CL E G H27010614458Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type)614458C3280866OMIM131817358606370
HP:0001332HP:0000473Torticollis3TPK1 CL E G H27010614458Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type)614458C3280866OMIM131817358606370
HP:0001332HP:0031008Lingual dystonia3TPK1 CL E G H27010614458Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type)614458C3280866OMIM131817358606370
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3TPK1 CL E G H27010614458Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type)614458C3280866OMIM131817358606370
HP:0001332HP:0012048Oromandibular dystonia3TPK1 CL E G H27010614458Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type)614458C3280866OMIM131817358606370
HP:0001332HP:0000643Blepharospasm3TRAPPC11 CL E G H60684615356Limb-girdle muscular dystrophy, type 2S615356C3809236OMIM198325751614138
HP:0001332HP:0000473Torticollis3TRAPPC11 CL E G H60684615356Limb-girdle muscular dystrophy, type 2S615356C3809236OMIM198325751614138
HP:0001332HP:0031008Lingual dystonia3TRAPPC11 CL E G H60684615356Limb-girdle muscular dystrophy, type 2S615356C3809236OMIM198325751614138
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3TRAPPC11 CL E G H60684615356Limb-girdle muscular dystrophy, type 2S615356C3809236OMIM198325751614138
HP:0001332HP:0012048Oromandibular dystonia3TRAPPC11 CL E G H60684615356Limb-girdle muscular dystrophy, type 2S615356C3809236OMIM198325751614138
HP:0001332HP:0000643Blepharospasm3TRAPPC12 CL E G H51112617669ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND SPASTICITY617669C4540059OMIM120224284614139
HP:0001332HP:0000473Torticollis3TRAPPC12 CL E G H51112617669ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND SPASTICITY617669C4540059OMIM120224284614139
HP:0001332HP:0031008Lingual dystonia3TRAPPC12 CL E G H51112617669ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND SPASTICITY617669C4540059OMIM120224284614139
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3TRAPPC12 CL E G H51112617669ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND SPASTICITY617669C4540059OMIM120224284614139
HP:0001332HP:0012048Oromandibular dystonia3TRAPPC12 CL E G H51112617669ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND SPASTICITY617669C4540059OMIM120224284614139
HP:0001332HP:0000643Blepharospasm3TREX1 CL E G H1127751ORPHA141812269606609
HP:0001332HP:0000473Torticollis3TREX1 CL E G H1127751ORPHA141812269606609
HP:0001332HP:0031008Lingual dystonia3TREX1 CL E G H1127751ORPHA141812269606609
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3TREX1 CL E G H1127751ORPHA141812269606609
HP:0001332HP:0012048Oromandibular dystonia3TREX1 CL E G H1127751ORPHA141812269606609
HP:0001332HP:0000643Blepharospasm3TREX1 CL E G H11277225750Aicardi Goutieres syndrome 1225750C0796126OMIM141812269606609
HP:0001332HP:0000473Torticollis3TREX1 CL E G H11277225750Aicardi Goutieres syndrome 1225750C0796126OMIM141812269606609
HP:0001332HP:0031008Lingual dystonia3TREX1 CL E G H11277225750Aicardi Goutieres syndrome 1225750C0796126OMIM141812269606609
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3TREX1 CL E G H11277225750Aicardi Goutieres syndrome 1225750C0796126OMIM141812269606609
HP:0001332HP:0012048Oromandibular dystonia3TREX1 CL E G H11277225750Aicardi Goutieres syndrome 1225750C0796126OMIM141812269606609
HP:0001332HP:0000643Blepharospasm3TRIT1 CL E G H54802617873COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 35617873CN807948OMIM111320286617840
HP:0001332HP:0000473Torticollis3TRIT1 CL E G H54802617873COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 35617873CN807948OMIM111320286617840
HP:0001332HP:0031008Lingual dystonia3TRIT1 CL E G H54802617873COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 35617873CN807948OMIM111320286617840
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3TRIT1 CL E G H54802617873COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 35617873CN807948OMIM111320286617840
HP:0001332HP:0012048Oromandibular dystonia3TRIT1 CL E G H54802617873COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 35617873CN807948OMIM111320286617840
HP:0001332HP:0000643Blepharospasm3TSEN2 CL E G H80746612389Pontocerebellar hypoplasia type 2B612389C2676466OMIM128028422608753
HP:0001332HP:0000473Torticollis3TSEN2 CL E G H80746612389Pontocerebellar hypoplasia type 2B612389C2676466OMIM128028422608753
HP:0001332HP:0031008Lingual dystonia3TSEN2 CL E G H80746612389Pontocerebellar hypoplasia type 2B612389C2676466OMIM128028422608753
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3TSEN2 CL E G H80746612389Pontocerebellar hypoplasia type 2B612389C2676466OMIM128028422608753
HP:0001332HP:0012048Oromandibular dystonia3TSEN2 CL E G H80746612389Pontocerebellar hypoplasia type 2B612389C2676466OMIM128028422608753
HP:0001332HP:0000643Blepharospasm3TSEN34 CL E G H79042612390Pontocerebellar hypoplasia type 2C612390C2676465OMIM116815506608754
HP:0001332HP:0000473Torticollis3TSEN34 CL E G H79042612390Pontocerebellar hypoplasia type 2C612390C2676465OMIM116815506608754
HP:0001332HP:0031008Lingual dystonia3TSEN34 CL E G H79042612390Pontocerebellar hypoplasia type 2C612390C2676465OMIM116815506608754
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3TSEN34 CL E G H79042612390Pontocerebellar hypoplasia type 2C612390C2676465OMIM116815506608754
HP:0001332HP:0012048Oromandibular dystonia3TSEN34 CL E G H79042612390Pontocerebellar hypoplasia type 2C612390C2676465OMIM116815506608754
HP:0001332HP:0000643Blepharospasm3TSFM CL E G H10102610505Combined oxidative phosphorylation deficiency 3610505C1864840OMIM143412367604723
HP:0001332HP:0000473Torticollis3TSFM CL E G H10102610505Combined oxidative phosphorylation deficiency 3610505C1864840OMIM143412367604723
HP:0001332HP:0031008Lingual dystonia3TSFM CL E G H10102610505Combined oxidative phosphorylation deficiency 3610505C1864840OMIM143412367604723
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3TSFM CL E G H10102610505Combined oxidative phosphorylation deficiency 3610505C1864840OMIM143412367604723
HP:0001332HP:0012048Oromandibular dystonia3TSFM CL E G H10102610505Combined oxidative phosphorylation deficiency 3610505C1864840OMIM143412367604723
HP:0001332HP:0000643Blepharospasm3TTC19 CL E G H54902615157Mitochondrial complex III deficiency, nuclear type 2615157C3554605OMIM134326006613814
HP:0001332HP:0000473Torticollis3TTC19 CL E G H54902615157Mitochondrial complex III deficiency, nuclear type 2615157C3554605OMIM134326006613814
HP:0001332HP:0031008Lingual dystonia3TTC19 CL E G H54902615157Mitochondrial complex III deficiency, nuclear type 2615157C3554605OMIM134326006613814
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3TTC19 CL E G H54902615157Mitochondrial complex III deficiency, nuclear type 2615157C3554605OMIM134326006613814
HP:0001332HP:0012048Oromandibular dystonia3TTC19 CL E G H54902615157Mitochondrial complex III deficiency, nuclear type 2615157C3554605OMIM134326006613814
HP:0001332HP:0000643Blepharospasm3TUBB4A CL E G H10382612438Leukodystrophy, hypomyelinating, 6612438C2676244OMIM127220774602662
HP:0001332HP:0000473Torticollis3TUBB4A CL E G H10382612438Leukodystrophy, hypomyelinating, 6612438C2676244OMIM127220774602662
HP:0001332HP:0031008Lingual dystonia3TUBB4A CL E G H10382612438Leukodystrophy, hypomyelinating, 6612438C2676244OMIM127220774602662
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3TUBB4A CL E G H10382612438Leukodystrophy, hypomyelinating, 6612438C2676244OMIM127220774602662
HP:0001332HP:0012048Oromandibular dystonia3TUBB4A CL E G H10382612438Leukodystrophy, hypomyelinating, 6612438C2676244OMIM127220774602662
HP:0001332HP:0000643Blepharospasm3TXN2 CL E G H25828616811Combined oxidative phosphorylation deficiency 29616811C4225200OMIM17617772609063
HP:0001332HP:0000473Torticollis3TXN2 CL E G H25828616811Combined oxidative phosphorylation deficiency 29616811C4225200OMIM17617772609063
HP:0001332HP:0031008Lingual dystonia3TXN2 CL E G H25828616811Combined oxidative phosphorylation deficiency 29616811C4225200OMIM17617772609063
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3TXN2 CL E G H25828616811Combined oxidative phosphorylation deficiency 29616811C4225200OMIM17617772609063
HP:0001332HP:0012048Oromandibular dystonia3TXN2 CL E G H25828616811Combined oxidative phosphorylation deficiency 29616811C4225200OMIM17617772609063
HP:0001332HP:0000643Blepharospasm3UBA5 CL E G H79876617132Epileptic encephalopathy, early infantile, 44617132C4310700OMIM122323230610552
HP:0001332HP:0000473Torticollis3UBA5 CL E G H79876617132Epileptic encephalopathy, early infantile, 44617132C4310700OMIM122323230610552
HP:0001332HP:0031008Lingual dystonia3UBA5 CL E G H79876617132Epileptic encephalopathy, early infantile, 44617132C4310700OMIM122323230610552
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3UBA5 CL E G H79876617132Epileptic encephalopathy, early infantile, 44617132C4310700OMIM122323230610552
HP:0001332HP:0012048Oromandibular dystonia3UBA5 CL E G H79876617132Epileptic encephalopathy, early infantile, 44617132C4310700OMIM122323230610552
HP:0001332HP:0000643Blepharospasm3UBQLN2 CL E G H29978300857Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia300857C3275459OMIM127312509300264
HP:0001332HP:0000473Torticollis3UBQLN2 CL E G H29978300857Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia300857C3275459OMIM127312509300264
HP:0001332HP:0031008Lingual dystonia3UBQLN2 CL E G H29978300857Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia300857C3275459OMIM127312509300264
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3UBQLN2 CL E G H29978300857Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia300857C3275459OMIM127312509300264
HP:0001332HP:0012048Oromandibular dystonia3UBQLN2 CL E G H29978300857Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia300857C3275459OMIM127312509300264
HP:0001332HP:0000643Blepharospasm3UBTF CL E G H7343617672NEURODEGENERATION, CHILDHOOD-ONSET, WITH BRAIN ATROPHY617672C4540086OMIM18412511600673
HP:0001332HP:0000473Torticollis3UBTF CL E G H7343617672NEURODEGENERATION, CHILDHOOD-ONSET, WITH BRAIN ATROPHY617672C4540086OMIM18412511600673
HP:0001332HP:0031008Lingual dystonia3UBTF CL E G H7343617672NEURODEGENERATION, CHILDHOOD-ONSET, WITH BRAIN ATROPHY617672C4540086OMIM18412511600673
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3UBTF CL E G H7343617672NEURODEGENERATION, CHILDHOOD-ONSET, WITH BRAIN ATROPHY617672C4540086OMIM18412511600673
HP:0001332HP:0012048Oromandibular dystonia3UBTF CL E G H7343617672NEURODEGENERATION, CHILDHOOD-ONSET, WITH BRAIN ATROPHY617672C4540086OMIM18412511600673
HP:0001332HP:0000643Blepharospasm3UFM1 CL E G H51569617899LEUKODYSTROPHY, HYPOMYELINATING, 14617899CN845004OMIM17720597610553
HP:0001332HP:0000473Torticollis3UFM1 CL E G H51569617899LEUKODYSTROPHY, HYPOMYELINATING, 14617899CN845004OMIM17720597610553
HP:0001332HP:0031008Lingual dystonia3UFM1 CL E G H51569617899LEUKODYSTROPHY, HYPOMYELINATING, 14617899CN845004OMIM17720597610553
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3UFM1 CL E G H51569617899LEUKODYSTROPHY, HYPOMYELINATING, 14617899CN845004OMIM17720597610553
HP:0001332HP:0012048Oromandibular dystonia3UFM1 CL E G H51569617899LEUKODYSTROPHY, HYPOMYELINATING, 14617899CN845004OMIM17720597610553
HP:0001332HP:0000643Blepharospasm3UPB1 CL E G H51733613161Deficiency of beta-ureidopropionase613161C1291512OMIM127116297606673
HP:0001332HP:0000473Torticollis3UPB1 CL E G H51733613161Deficiency of beta-ureidopropionase613161C1291512OMIM127116297606673
HP:0001332HP:0031008Lingual dystonia3UPB1 CL E G H51733613161Deficiency of beta-ureidopropionase613161C1291512OMIM127116297606673
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3UPB1 CL E G H51733613161Deficiency of beta-ureidopropionase613161C1291512OMIM127116297606673
HP:0001332HP:0012048Oromandibular dystonia3UPB1 CL E G H51733613161Deficiency of beta-ureidopropionase613161C1291512OMIM127116297606673
HP:0001332HP:0000643Blepharospasm3UQCRQ CL E G H27089615159Mitochondrial complex III deficiency, nuclear type 4615159C3554607OMIM110229594612080
HP:0001332HP:0000473Torticollis3UQCRQ CL E G H27089615159Mitochondrial complex III deficiency, nuclear type 4615159C3554607OMIM110229594612080
HP:0001332HP:0031008Lingual dystonia3UQCRQ CL E G H27089615159Mitochondrial complex III deficiency, nuclear type 4615159C3554607OMIM110229594612080
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3UQCRQ CL E G H27089615159Mitochondrial complex III deficiency, nuclear type 4615159C3554607OMIM110229594612080
HP:0001332HP:0012048Oromandibular dystonia3UQCRQ CL E G H27089615159Mitochondrial complex III deficiency, nuclear type 4615159C3554607OMIM110229594612080
HP:0001332HP:0000643Blepharospasm3VAMP1 CL E G H6843108600Ataxia, spastic, 1, autosomal dominant108600C1970107OMIM114112642185880
HP:0001332HP:0000473Torticollis3VAMP1 CL E G H6843108600Ataxia, spastic, 1, autosomal dominant108600C1970107OMIM114112642185880
HP:0001332HP:0031008Lingual dystonia3VAMP1 CL E G H6843108600Ataxia, spastic, 1, autosomal dominant108600C1970107OMIM114112642185880
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3VAMP1 CL E G H6843108600Ataxia, spastic, 1, autosomal dominant108600C1970107OMIM114112642185880
HP:0001332HP:0012048Oromandibular dystonia3VAMP1 CL E G H6843108600Ataxia, spastic, 1, autosomal dominant108600C1970107OMIM114112642185880
HP:0001332HP:0000643Blepharospasm3VCP CL E G H7415167320Inclusion body myopathy with early-onset paget disease and frontotemporal dementia167320C1833662OMIM160712666601023
HP:0001332HP:0000473Torticollis3VCP CL E G H7415167320Inclusion body myopathy with early-onset paget disease and frontotemporal dementia167320C1833662OMIM160712666601023
HP:0001332HP:0031008Lingual dystonia3VCP CL E G H7415167320Inclusion body myopathy with early-onset paget disease and frontotemporal dementia167320C1833662OMIM160712666601023
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3VCP CL E G H7415167320Inclusion body myopathy with early-onset paget disease and frontotemporal dementia167320C1833662OMIM160712666601023
HP:0001332HP:0012048Oromandibular dystonia3VCP CL E G H7415167320Inclusion body myopathy with early-onset paget disease and frontotemporal dementia167320C1833662OMIM160712666601023
HP:0001332HP:0000643Blepharospasm3VPS13A CL E G H232302388ORPHA123621908605978
HP:0001332HP:0000473Torticollis3VPS13A CL E G H232302388ORPHA123621908605978
HP:0001332HP:0031008Lingual dystonia3VPS13A CL E G H232302388ORPHA123621908605978
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3VPS13A CL E G H232302388ORPHA123621908605978
HP:0001332HP:0012048Oromandibular dystonia3VPS13A CL E G H232302388ORPHA123621908605978
HP:0001332HP:0000643Blepharospasm3VPS13A CL E G H23230200150Choreoacanthocytosis200150C0393576OMIM123621908605978
HP:0001332HP:0000473Torticollis3VPS13A CL E G H23230200150Choreoacanthocytosis200150C0393576OMIM123621908605978
HP:0001332HP:0031008Lingual dystonia3VPS13A CL E G H23230200150Choreoacanthocytosis200150C0393576OMIM123621908605978
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3VPS13A CL E G H23230200150Choreoacanthocytosis200150C0393576OMIM123621908605978
HP:0001332HP:0012048Oromandibular dystonia3VPS13A CL E G H23230200150Choreoacanthocytosis200150C0393576OMIM123621908605978
HP:0001332HP:0000643Blepharospasm3VPS13D CL E G H55187607317Spinocerebellar ataxia autosomal recessive 4607317C1846492OMIM1103423595608877
HP:0001332HP:0000473Torticollis3VPS13D CL E G H55187607317Spinocerebellar ataxia autosomal recessive 4607317C1846492OMIM1103423595608877
HP:0001332HP:0031008Lingual dystonia3VPS13D CL E G H55187607317Spinocerebellar ataxia autosomal recessive 4607317C1846492OMIM1103423595608877
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3VPS13D CL E G H55187607317Spinocerebellar ataxia autosomal recessive 4607317C1846492OMIM1103423595608877
HP:0001332HP:0012048Oromandibular dystonia3VPS13D CL E G H55187607317Spinocerebellar ataxia autosomal recessive 4607317C1846492OMIM1103423595608877
HP:0001332HP:0000643Blepharospasm3WARS2 CL E G H10352617710NEURODEVELOPMENTAL DISORDER, MITOCHONDRIAL, WITH ABNORMAL MOVEMENTS AND LACTIC ACIDOSIS, WITH OR WITHOUT SEIZURES617710C4540192OMIM114412730604733
HP:0001332HP:0000473Torticollis3WARS2 CL E G H10352617710NEURODEVELOPMENTAL DISORDER, MITOCHONDRIAL, WITH ABNORMAL MOVEMENTS AND LACTIC ACIDOSIS, WITH OR WITHOUT SEIZURES617710C4540192OMIM114412730604733
HP:0001332HP:0031008Lingual dystonia3WARS2 CL E G H10352617710NEURODEVELOPMENTAL DISORDER, MITOCHONDRIAL, WITH ABNORMAL MOVEMENTS AND LACTIC ACIDOSIS, WITH OR WITHOUT SEIZURES617710C4540192OMIM114412730604733
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3WARS2 CL E G H10352617710NEURODEVELOPMENTAL DISORDER, MITOCHONDRIAL, WITH ABNORMAL MOVEMENTS AND LACTIC ACIDOSIS, WITH OR WITHOUT SEIZURES617710C4540192OMIM114412730604733
HP:0001332HP:0012048Oromandibular dystonia3WARS2 CL E G H10352617710NEURODEVELOPMENTAL DISORDER, MITOCHONDRIAL, WITH ABNORMAL MOVEMENTS AND LACTIC ACIDOSIS, WITH OR WITHOUT SEIZURES617710C4540192OMIM114412730604733
HP:0001332HP:0000643Blepharospasm3WDR45 CL E G H11152329284ORPHA158728912300526
HP:0001332HP:0000473Torticollis3WDR45 CL E G H11152329284ORPHA158728912300526
HP:0001332HP:0031008Lingual dystonia3WDR45 CL E G H11152329284ORPHA158728912300526
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3WDR45 CL E G H11152329284ORPHA158728912300526
HP:0001332HP:0012048Oromandibular dystonia3WDR45 CL E G H11152329284ORPHA158728912300526
HP:0001332HP:0000643Blepharospasm3WDR45 CL E G H11152300894Neurodegeneration with brain iron accumulation 5300894C3550973OMIM158728912300526
HP:0001332HP:0000473Torticollis3WDR45 CL E G H11152300894Neurodegeneration with brain iron accumulation 5300894C3550973OMIM158728912300526
HP:0001332HP:0031008Lingual dystonia3WDR45 CL E G H11152300894Neurodegeneration with brain iron accumulation 5300894C3550973OMIM158728912300526
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3WDR45 CL E G H11152300894Neurodegeneration with brain iron accumulation 5300894C3550973OMIM158728912300526
HP:0001332HP:0012048Oromandibular dystonia3WDR45 CL E G H11152300894Neurodegeneration with brain iron accumulation 5300894C3550973OMIM158728912300526
HP:0001332HP:0000643Blepharospasm3YY1 CL E G H7528617557GABRIELE-DE VRIES SYNDROME617557C4479652OMIM111712856600013
HP:0001332HP:0000473Torticollis3YY1 CL E G H7528617557GABRIELE-DE VRIES SYNDROME617557C4479652OMIM111712856600013
HP:0001332HP:0031008Lingual dystonia3YY1 CL E G H7528617557GABRIELE-DE VRIES SYNDROME617557C4479652OMIM111712856600013
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3YY1 CL E G H7528617557GABRIELE-DE VRIES SYNDROME617557C4479652OMIM111712856600013
HP:0001332HP:0012048Oromandibular dystonia3YY1 CL E G H7528617557GABRIELE-DE VRIES SYNDROME617557C4479652OMIM111712856600013
HP:0001332HP:0000643Blepharospasm3ZC4H2 CL E G H55906314580Wieacker Wolff syndrome314580C0796200OMIM127924931300897
HP:0001332HP:0000473Torticollis3ZC4H2 CL E G H55906314580Wieacker Wolff syndrome314580C0796200OMIM127924931300897
HP:0001332HP:0031008Lingual dystonia3ZC4H2 CL E G H55906314580Wieacker Wolff syndrome314580C0796200OMIM127924931300897
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3ZC4H2 CL E G H55906314580Wieacker Wolff syndrome314580C0796200OMIM127924931300897
HP:0001332HP:0012048Oromandibular dystonia3ZC4H2 CL E G H55906314580Wieacker Wolff syndrome314580C0796200OMIM127924931300897
HP:0001332HP:0002544Retrocollis4AARS2 CL E G H57505615889Leukoencephalopathy, progressive, with ovarian failure615889C4014588OMIM154321022612035
HP:0001332HP:0002544Retrocollis4ACER3 CL E G H55331617762LEUKODYSTROPHY, PROGRESSIVE, EARLY CHILDHOOD-ONSET617762C4540358OMIM17316066617036
HP:0001332HP:0002544Retrocollis4ACOX1 CL E G H51264470Pseudoneonatal adrenoleukodystrophy264470C1849678OMIM1665119609751
HP:0001332HP:0002544Retrocollis4ADAR CL E G H10351ORPHA11122225146920
HP:0001332HP:0002544Retrocollis4ADAR CL E G H103225154ORPHA11122225146920
HP:0001332HP:0002544Retrocollis4ADAR CL E G H103615010Aicardi-Goutieres syndrome 6615010C3539013OMIM11122225146920
HP:0001332HP:0002544Retrocollis4ADCY5 CL E G H111324588ORPHA1653236600293
HP:0001332HP:0002544Retrocollis4ADCY5 CL E G H111606703Dyskinesia, familial, with facial myokymia606703C1847627OMIM1653236600293
HP:0001332HP:0002544Retrocollis4AFG3L2 CL E G H10939313772ORPHA1480315604581
HP:0001332HP:0002544Retrocollis4AFG3L2 CL E G H10939614487Spastic ataxia 5, autosomal recessive614487C3280977OMIM1480315604581
HP:0001332HP:0002544Retrocollis4ALDH6A1 CL E G H4329614105Methylmalonate semialdehyde dehydrogenase deficiency614105C3279840OMIM12097179603178
HP:0001332HP:0002544Retrocollis4AP3D1 CL E G H8943617050Hermansky-Pudlak syndrome 10617050C4310746OMIM1893568607246
HP:0001332HP:0002544Retrocollis4AP4B1 CL E G H10717280763ORPHA1403572607245
HP:0001332HP:0002544Retrocollis4AP4B1 CL E G H10717614066Spastic paraplegia 47, autosomal recessive614066C3279738OMIM1403572607245
HP:0001332HP:0002544Retrocollis4AP4E1 CL E G H23431280763ORPHA1509573607244
HP:0001332HP:0002544Retrocollis4AP4M1 CL E G H9179280763ORPHA1429574602296
HP:0001332HP:0002544Retrocollis4AP4S1 CL E G H11154280763ORPHA1148575607243
HP:0001332HP:0002544Retrocollis4APTX CL E G H54840208920Ataxia-oculomotor apraxia type 1208920C1859598OMIM133115984606350
HP:0001332HP:0002544Retrocollis4ARSA CL E G H410309256ORPHA11140713607574
HP:0001332HP:0002544Retrocollis4ARSA CL E G H410309263ORPHA11140713607574
HP:0001332HP:0002544Retrocollis4ARSA CL E G H410309271ORPHA11140713607574
HP:0001332HP:0002544Retrocollis4ARSA CL E G H410250100Metachromatic leukodystrophy250100C0023522OMIM11140713607574
HP:0001332HP:0002544Retrocollis4ARV1 CL E G H64801617020Epileptic encephalopathy, early infantile, 38617020C4310762OMIM18929561611647
HP:0001332HP:0002544Retrocollis4ARX CL E G H170302308350Epileptic encephalopathy, early infantile, 1308350C3463992OMIM181018060300382
HP:0001332HP:0002544Retrocollis4ATM CL E G H472208900Ataxia-telangiectasia syndrome208900C0004135OMIM114692795607585
HP:0001332HP:0002544Retrocollis4ATP13A2 CL E G H23400314632ORPHA197430213610513
HP:0001332HP:0002544Retrocollis4ATP13A2 CL E G H23400513436ORPHA197430213610513
HP:0001332HP:0002544Retrocollis4ATP1A2 CL E G H477104290Alternating hemiplegia of childhood 1104290C3549447OMIM11117800182340
HP:0001332HP:0002544Retrocollis4ATP1A3 CL E G H478614820Alternating hemiplegia of childhood 2614820C3553788OMIM1993801182350
HP:0001332HP:0002544Retrocollis4ATP1A3 CL E G H478601338Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss601338C1832466OMIM1993801182350
HP:0001332HP:0002544Retrocollis4ATP7B CL E G H540277900Wilson disease277900C0019202OMIM12303870606882
HP:0001332HP:0002544Retrocollis4ATXN1 CL E G H631098755ORPHA112010548601556
HP:0001332HP:0002544Retrocollis4ATXN2 CL E G H631198756ORPHA111510555601517
HP:0001332HP:0002544Retrocollis4ATXN3 CL E G H4287276238ORPHA1657106607047
HP:0001332HP:0002544Retrocollis4ATXN3 CL E G H4287276241ORPHA1657106607047
HP:0001332HP:0002544Retrocollis4ATXN3 CL E G H4287276244ORPHA1657106607047
HP:0001332HP:0002544Retrocollis4ATXN8 CL E G H72406698760ORPHA1232925613289
HP:0001332HP:0002544Retrocollis4ATXN8OS CL E G H631598760ORPHA18710561603680
HP:0001332HP:0002544Retrocollis4AUH CL E G H5492509503-Methylglutaconic aciduria type 1250950C0342727OMIM1249890600529
HP:0001332HP:0002544Retrocollis4B4GALNT1 CL E G H2583609195Spastic paraplegia 26609195C1836632OMIM12954117601873
HP:0001332HP:0002544Retrocollis4BCAP31 CL E G H10134300475Chromosome Xq28 deletion syndrome300475C1845408OMIM137516695300398
HP:0001332HP:0002544Retrocollis4BCS1L CL E G H617256000Leigh syndrome256000C0023264OMIM14131020603647
HP:0001332HP:0002544Retrocollis4BSCL2 CL E G H26580615924Encephalopathy, progressive, with or without lipodystrophy615924C4014700OMIM151015832606158
HP:0001332HP:0002544Retrocollis4C19orf12 CL E G H83636289560ORPHA130725443614297
HP:0001332HP:0002544Retrocollis4CACNA1A CL E G H773108500Episodic ataxia type 2108500C1720416OMIM132481388601011
HP:0001332HP:0002544Retrocollis4CACNA1E CL E G H777618285618285618285OMIM115831392601013
HP:0001332HP:0002544Retrocollis4CACNA1G CL E G H8913618087SPINOCEREBELLAR ATAXIA 42, EARLY-ONSET, SEVERE, WITH NEURODEVELOPMENTAL DEFICITS618087CN252698OMIM18221394604065
HP:0001332HP:0002544Retrocollis4CARS2 CL E G H79587616672Combined oxidative phosphorylation deficiency 27616672C4225251OMIM182525695612800
HP:0001332HP:0002544Retrocollis4CHMP2B CL E G H25978600795Frontotemporal Dementia, Chromosome 3-Linked600795C1833296OMIM116024537609512
HP:0001332HP:0002544Retrocollis4CHRNA2 CL E G H1135610353Epilepsy, nocturnal frontal lobe, type 4610353C1835905OMIM17321956118502
HP:0001332HP:0002544Retrocollis4CKAP2L CL E G H150468272440Filippi syndrome272440C0795940OMIM116826877616174
HP:0001332HP:0002544Retrocollis4CNTNAP1 CL E G H8506618186Congenital hypomyelinating neuropathy 3618186OMIM14258011602346
HP:0001332HP:0002544Retrocollis4COQ9 CL E G H57017614654Coenzyme Q10 deficiency, primary, 5614654C3553374OMIM127625302612837
HP:0001332HP:0002544Retrocollis4COX10 CL E G H1352256000Leigh syndrome256000C0023264OMIM13562260602125
HP:0001332HP:0002544Retrocollis4COX15 CL E G H1355255241ORPHA13572263603646
HP:0001332HP:0002544Retrocollis4COX15 CL E G H1355256000Leigh syndrome256000C0023264OMIM13572263603646
HP:0001332HP:0002544Retrocollis4CTC1 CL E G H80169612199Cerebroretinal microangiopathy with calcifications and cysts 1612199C2677299OMIM1129226169613129
HP:0001332HP:0002544Retrocollis4CWF19L1 CL E G H55280453521ORPHA110025613616120
HP:0001332HP:0002544Retrocollis4CYP27A1 CL E G H1593909ORPHA19402605606530
HP:0001332HP:0002544Retrocollis4DCAF17 CL E G H800673464ORPHA136625784612515
HP:0001332HP:0002544Retrocollis4DCAF17 CL E G H80067241080Hypogonadism, diabetes mellitus, alopecia, mental retardation and electrocardiographic abnormalities241080C0342286OMIM136625784612515
HP:0001332HP:0002544Retrocollis4DHDDS CL E G H79947617836DEVELOPMENTAL DELAY AND SEIZURES WITH OR WITHOUT MOVEMENT ABNORMALITIES617836CN769090OMIM143420603608172
HP:0001332HP:0002544Retrocollis4DHX30 CL E G H22907617804NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT AND ABSENT LANGUAGE617804C4540496OMIM116216716616423
HP:0001332HP:0002544Retrocollis4DLD CL E G H1738246900Maple syrup urine disease, type 3246900CN043137OMIM15202898238331
HP:0001332HP:0002544Retrocollis4DMXL2 CL E G H23312616113Polyendocrine-polyneuropathy syndrome616113C4015261OMIM112162938612186
HP:0001332HP:0002544Retrocollis4DNAJC6 CL E G H9829391411ORPHA131015469608375
HP:0001332HP:0002544Retrocollis4EARS2 CL E G H124454614924Combined oxidative phosphorylation deficiency 12614924C3554079OMIM133629419612799
HP:0001332HP:0002544Retrocollis4ECHS1 CL E G H1892255241ORPHA14313151602292
HP:0001332HP:0002544Retrocollis4ECHS1 CL E G H1892616277Mitochondrial short-chain enoyl-coa hydratase 1 deficiency616277C4225391OMIM14313151602292
HP:0001332HP:0002544Retrocollis4ECM1 CL E G H1893530Acute myeloblastic leukemia type 5ORPHA11063153602201
HP:0001332HP:0002544Retrocollis4EPRS CL E G H2058617951LEUKODYSTROPHY, HYPOMYELINATING, 15617951CN244566OMIM13418138295
HP:0001332HP:0002544Retrocollis4FA2H CL E G H79152612319Spastic paraplegia 35612319C3668943OMIM138121197611026
HP:0001332HP:0002544Retrocollis4FBXO7 CL E G H25793171695ORPHA124313586605648
HP:0001332HP:0002544Retrocollis4FBXO7 CL E G H25793260300Parkinson disease 15260300C1850100OMIM124313586605648
HP:0001332HP:0002544Retrocollis4FOXG1 CL E G H2290613454Rett syndrome, congenital variant613454C3150705OMIM17253811164874
HP:0001332HP:0002544Retrocollis4FOXRED1 CL E G H55572255241ORPHA132326927613622
HP:0001332HP:0002544Retrocollis4FTL CL E G H2512157846ORPHA11853999134790
HP:0001332HP:0002544Retrocollis4GABBR2 CL E G H9568617903NEURODEVELOPMENTAL DISORDER WITH POOR LANGUAGE AND LOSS OF HAND SKILLS617903CN870852OMIM18484507607340
HP:0001332HP:0002544Retrocollis4GABRB2 CL E G H2561617829EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 2617829CN757794OMIM14944082600232
HP:0001332HP:0002544Retrocollis4GBA CL E G H262977260ORPHA14177606463
HP:0001332HP:0002544Retrocollis4GCDH CL E G H263925ORPHA17204189608801
HP:0001332HP:0002544Retrocollis4GCDH CL E G H2639231670Glutaric aciduria, type 1231670C0268595OMIM17204189608801
HP:0001332HP:0002544Retrocollis4GCH1 CL E G H2643233910GTP cyclohydrolase I deficiency233910C0268467OMIM14284193600225
HP:0001332HP:0002544Retrocollis4GJC2 CL E G H57165608804Leukodystrophy, hypomyelinating, 2608804C1837355OMIM132317494608803
HP:0001332HP:0002544Retrocollis4GLB1 CL E G H2720230650Gangliosidosis GM1 type 3230650C0268273OMIM19374298611458
HP:0001332HP:0002544Retrocollis4GM2A CL E G H2760309246ORPHA12124367613109
HP:0001332HP:0002544Retrocollis4GM2A CL E G H2760272750Tay-Sachs disease, variant AB272750C0268275OMIM12124367613109
HP:0001332HP:0002544Retrocollis4GNAO1 CL E G H2775617493Neurodevelopmental disorder with involuntary movements617493C4479569OMIM14294389139311
HP:0001332HP:0002544Retrocollis4GRIN1 CL E G H2902617820NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE617820CN737161OMIM19294584138249
HP:0001332HP:0002544Retrocollis4GRIN2B CL E G H2904616139Epileptic encephalopathy, early infantile, 27616139C4015316OMIM113534586138252
HP:0001332HP:0002544Retrocollis4GRIN2B CL E G H2904613970Mental retardation, autosomal dominant 6613970C3151411OMIM113534586138252
HP:0001332HP:0002544Retrocollis4GTPBP2 CL E G H54676617988JABERI-ELAHI SYNDROME617988CN244943OMIM11474670607434
HP:0001332HP:0002544Retrocollis4HACE1 CL E G H57531464282ORPHA122721033610876
HP:0001332HP:0002544Retrocollis4HIBCH CL E G H26275250620Beta-hydroxyisobutyryl-CoA deacylase deficiency250620C0342738OMIM12354908610690
HP:0001332HP:0002544Retrocollis4HPRT1 CL E G H3251300322Lesch-Nyhan syndrome300322C0023374OMIM13545157308000
HP:0001332HP:0002544Retrocollis4HTRA2 CL E G H274296172483-methylglutaconic aciduria, type VIII617248C4310650OMIM124414348606441
HP:0001332HP:0002544Retrocollis4HTT CL E G H3064248111ORPHA17604851613004
HP:0001332HP:0002544Retrocollis4HTT CL E G H3064617435Lopes-Maciel-Rodan syndrome617435C4479491OMIM17604851613004
HP:0001332HP:0002544Retrocollis4IFIH1 CL E G H6413551ORPHA1117018873606951
HP:0001332HP:0002544Retrocollis4IFIH1 CL E G H64135615846Aicardi-Goutieres syndrome 7615846C3888244OMIM1117018873606951
HP:0001332HP:0002544Retrocollis4IRF2BPL CL E G H64207618088NEURODEVELOPMENTAL DISORDER WITH REGRESSION, ABNORMAL MOVEMENTS, LOSS OF SPEECH, AND SEIZURES618088CN252701OMIM131214282611720
HP:0001332HP:0002544Retrocollis4JPH3 CL E G H57338606438Huntington disease-like 2606438C1847987OMIM117614203605268
HP:0001332HP:0002544Retrocollis4KCNQ2 CL E G H3785439218ORPHA119626296602235
HP:0001332HP:0002544Retrocollis4KCNQ2 CL E G H3785613720Early infantile epileptic encephalopathy 7613720C3150986OMIM119626296602235
HP:0001332HP:0002544Retrocollis4LIPT1 CL E G H51601255241ORPHA112429569610284
HP:0001332HP:0002544Retrocollis4LIPT1 CL E G H51601616299Lipoyltransferase 1 deficiency616299C4225379OMIM112429569610284
HP:0001332HP:0002544Retrocollis4LIPT2 CL E G H387787617668ENCEPHALOPATHY, NEONATAL SEVERE, WITH LACTIC ACIDOSIS AND BRAIN ABNORMALITIES617668C4540052OMIM111337216617659
HP:0001332HP:0002544Retrocollis4MARS2 CL E G H92935314603ORPHA120425133609728
HP:0001332HP:0002544Retrocollis4MARS2 CL E G H92935611390Ataxia, spastic, 3, autosomal recessive611390C1969645OMIM120425133609728
HP:0001332HP:0002544Retrocollis4MAT1A CL E G H4143250850Hepatic methionine adenosyltransferase deficiency250850C0268621OMIM13536903610550
HP:0001332HP:0002544Retrocollis4MCOLN1 CL E G H57192252650Mucolipidosis type IV252650C0238286OMIM166913356605248
HP:0001332HP:0002544Retrocollis4MDH2 CL E G H4191617339Epileptic encephalopathy, early infantile, 51617339C4479208OMIM15936971154100
HP:0001332HP:0002544Retrocollis4MECP2 CL E G H4204778ORPHA119256990300005
HP:0001332HP:0002544Retrocollis4MECP2 CL E G H4204312750Rett syndrome312750C0035372OMIM119256990300005
HP:0001332HP:0002544Retrocollis4MICU1 CL E G H10367401768ORPHA12651530605084
HP:0001332HP:0002544Retrocollis4MMADHC CL E G H27249277410Methylmalonic acidemia with homocystinuria cblD277410C1848552OMIM128225221611935
HP:0001332HP:0002544Retrocollis4MMUT CL E G H459479312ORPHA18967526609058
HP:0001332HP:0002544Retrocollis4MPV17 CL E G H4358256810Navajo neurohepatopathy256810C1850406OMIM12647224137960
HP:0001332HP:0002544Retrocollis4MRE11 CL E G H4361251347ORPHA119117230600814
HP:0001332HP:0002544Retrocollis4MRE11 CL E G H4361604391Ataxia-telangiectasia-like disorder 1604391C1858391OMIM119117230600814
HP:0001332HP:0002544Retrocollis4MRPS34 CL E G H65993617664COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 32617664C4540029OMIM113816618611994
HP:0001332HP:0002544Retrocollis4MT-ATP6 CL E G H4508225154ORPHA17414516060
HP:0001332HP:0002544Retrocollis4MT-ATP6 CL E G H4508535000Leber's optic atrophy535000C0917796OMIM17414516060
HP:0001332HP:0002544Retrocollis4MT-CO3 CL E G H4514535000Leber's optic atrophy535000C0917796OMIM17422516050
HP:0001332HP:0002544Retrocollis4MT-CYB CL E G H4519535000Leber's optic atrophy535000C0917796OMIM17427516020
HP:0001332HP:0002544Retrocollis4MT-ND1 CL E G H4535535000Leber's optic atrophy535000C0917796OMIM17455516000
HP:0001332HP:0002544Retrocollis4MT-ND2 CL E G H4536535000Leber's optic atrophy535000C0917796OMIM17456516001
HP:0001332HP:0002544Retrocollis4MT-ND4 CL E G H4538535000Leber's optic atrophy535000C0917796OMIM17459516003
HP:0001332HP:0002544Retrocollis4MT-ND4L CL E G H4539535000Leber's optic atrophy535000C0917796OMIM17460516004
HP:0001332HP:0002544Retrocollis4MT-ND5 CL E G H4540535000Leber's optic atrophy535000C0917796OMIM17461516005
HP:0001332HP:0002544Retrocollis4MT-ND6 CL E G H4541535000Leber's optic atrophy535000C0917796OMIM17462516006
HP:0001332HP:0002544Retrocollis4MTFMT CL E G H123263255241ORPHA124329666611766
HP:0001332HP:0002544Retrocollis4NADK2 CL E G H133686431361ORPHA122126404615787
HP:0001332HP:0002544Retrocollis4NADK2 CL E G H1336866160342,4-Dienoyl-CoA reductase deficiency616034C1857252OMIM122126404615787
HP:0001332HP:0002544Retrocollis4NDUFA10 CL E G H4705255241ORPHA14217684603835
HP:0001332HP:0002544Retrocollis4NDUFA12 CL E G H55967255241ORPHA19223987614530
HP:0001332HP:0002544Retrocollis4NDUFA12 CL E G H55967618244MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 23618244OMIM19223987614530
HP:0001332HP:0002544Retrocollis4NDUFA13 CL E G H51079255241ORPHA16517194609435
HP:0001332HP:0002544Retrocollis4NDUFA2 CL E G H4695255241ORPHA1957685602137
HP:0001332HP:0002544Retrocollis4NDUFA4 CL E G H4697255241ORPHA1967687603833
HP:0001332HP:0002544Retrocollis4NDUFA9 CL E G H4704255241ORPHA12357693603834
HP:0001332HP:0002544Retrocollis4NDUFA9 CL E G H4704618247MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 26618247OMIM12357693603834
HP:0001332HP:0002544Retrocollis4NDUFAF2 CL E G H91942255241ORPHA113228086609653
HP:0001332HP:0002544Retrocollis4NDUFAF4 CL E G H29078618237MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 15618237OMIM113621034611776
HP:0001332HP:0002544Retrocollis4NDUFAF5 CL E G H79133255241ORPHA138315899612360
HP:0001332HP:0002544Retrocollis4NDUFAF5 CL E G H79133618238MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 16618238OMIM138315899612360
HP:0001332HP:0002544Retrocollis4NDUFAF6 CL E G H137682255241ORPHA128128625612392
HP:0001332HP:0002544Retrocollis4NDUFAF6 CL E G H137682618239MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 17618239OMIM128128625612392
HP:0001332HP:0002544Retrocollis4NDUFS1 CL E G H4719255241ORPHA14247707157655
HP:0001332HP:0002544Retrocollis4NDUFS1 CL E G H4719618226MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 5618226OMIM14247707157655
HP:0001332HP:0002544Retrocollis4NDUFS2 CL E G H4720255241ORPHA12477708602985
HP:0001332HP:0002544Retrocollis4NDUFS3 CL E G H4722255241ORPHA11477710603846
HP:0001332HP:0002544Retrocollis4NDUFS3 CL E G H4722618230MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 8618230OMIM11477710603846
HP:0001332HP:0002544Retrocollis4NDUFS4 CL E G H4724255241ORPHA11397711602694
HP:0001332HP:0002544Retrocollis4NDUFS7 CL E G H374291255241ORPHA12157714601825
HP:0001332HP:0002544Retrocollis4NDUFS7 CL E G H374291618224MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 3618224OMIM12157714601825
HP:0001332HP:0002544Retrocollis4NDUFS8 CL E G H4728255241ORPHA11297715602141
HP:0001332HP:0002544Retrocollis4NDUFS8 CL E G H4728618222MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 2618222OMIM11297715602141
HP:0001332HP:0002544Retrocollis4NDUFV1 CL E G H4723255241ORPHA13157716161015
HP:0001332HP:0002544Retrocollis4NDUFV2 CL E G H4729255241ORPHA12297717600532
HP:0001332HP:0002544Retrocollis4NHLRC2 CL E G H374354618278618278618278OMIM167247310
HP:0001332HP:0002544Retrocollis4NKX2-1 CL E G H7080610978Choreoathetosis, hypothyroidism, and neonatal respiratory distress610978C1970269OMIM131711825600635
HP:0001332HP:0002544Retrocollis4NKX6-2 CL E G H84504527497ORPHA123319321605955
HP:0001332HP:0002544Retrocollis4NKX6-2 CL E G H84504617560SPASTIC ATAXIA 8, AUTOSOMAL RECESSIVE, WITH HYPOMYELINATING LEUKODYSTROPHY617560C4479653OMIM123319321605955
HP:0001332HP:0002544Retrocollis4NPC1 CL E G H4864257220Niemann-Pick disease type C1257220C3179455OMIM121097897607623
HP:0001332HP:0002544Retrocollis4NPC2 CL E G H10577607625Niemann-Pick disease type C2607625C1843366OMIM123214537601015
HP:0001332HP:0002544Retrocollis4NR4A2 CL E G H4929168600Parkinson disease, late-onset168600C3160718OMIM11437981601828
HP:0001332HP:0002544Retrocollis4NUP62 CL E G H23636225154ORPHA11618066605815
HP:0001332HP:0002544Retrocollis4NUP62 CL E G H23636271930Striatonigral degeneration infantile271930C0795996OMIM11618066605815
HP:0001332HP:0002544Retrocollis4PANK2 CL E G H80025607236Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration607236C1846582OMIM149915894606157
HP:0001332HP:0002544Retrocollis4PCCA CL E G H5095606054Propionyl-CoA carboxylase deficiency606054C0268579OMIM111898653232000
HP:0001332HP:0002544Retrocollis4PCCB CL E G H5096606054Propionyl-CoA carboxylase deficiency606054C0268579OMIM19718654232050
HP:0001332HP:0002544Retrocollis4PCDH12 CL E G H51294251280Microcephaly with spastic quadriplegia251280C1855055OMIM13738657605622
HP:0001332HP:0002544Retrocollis4PDGFB CL E G H5155213600Idiopathic basal ganglia calcification 1213600C0393590OMIM11518800190040
HP:0001332HP:0002544Retrocollis4PDGFRB CL E G H5159213600Idiopathic basal ganglia calcification 1213600C0393590OMIM15318804173410
HP:0001332HP:0002544Retrocollis4PDHA1 CL E G H5160255241ORPHA16798806300502
HP:0001332HP:0002544Retrocollis4PDHA1 CL E G H5160312170Pyruvate dehydrogenase E1-alpha deficiency312170C1839413OMIM16798806300502
HP:0001332HP:0002544Retrocollis4PDHX CL E G H8050245349Pyruvate dehydrogenase E3-binding protein deficiency245349C1855553OMIM137221350608769
HP:0001332HP:0002544Retrocollis4PET100 CL E G H100131801255241ORPHA17640038614770
HP:0001332HP:0002544Retrocollis4PINK1 CL E G H65018605909Parkinson disease 6, autosomal recessive early-onset605909C1853833OMIM138414581608309
HP:0001332HP:0002544Retrocollis4PLA2G6 CL E G H8398610217Neurodegeneration with brain iron accumulation 2b610217C1857747OMIM17759039603604
HP:0001332HP:0002544Retrocollis4PLA2G6 CL E G H8398612953Parkinson disease 14612953C2751842OMIM17759039603604
HP:0001332HP:0002544Retrocollis4PLAA CL E G H9373521426ORPHA15059043603873
HP:0001332HP:0002544Retrocollis4PLP1 CL E G H5354312080Pelizaeus-Merzbacher disease312080C0205711OMIM14519086300401
HP:0001332HP:0002544Retrocollis4PMPCB CL E G H9512617954MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 6617954CN244567OMIM11339119603131
HP:0001332HP:0002544Retrocollis4PNKP CL E G H11284616267Ataxia-oculomotor apraxia 4616267C4225397OMIM110289154605610
HP:0001332HP:0002544Retrocollis4PNPLA8 CL E G H50640251950Mitochondrial myopathy with lactic acidosis251950C1855033OMIM127128900612123
HP:0001332HP:0002544Retrocollis4PNPT1 CL E G H87178614932Combined oxidative phosphorylation deficiency 13614932C3554129OMIM176123166610316
HP:0001332HP:0002544Retrocollis4PODXL CL E G H5420391411ORPHA12009171602632
HP:0001332HP:0002544Retrocollis4POLR3A CL E G H11128447896ORPHA1102530074614258
HP:0001332HP:0002544Retrocollis4POLR3A CL E G H11128607694Hypomyelinating leukodystrophy 7607694C2676243OMIM1102530074614258
HP:0001332HP:0002544Retrocollis4POLR3B CL E G H55703607694Hypomyelinating leukodystrophy 7607694C2676243OMIM151030348614366
HP:0001332HP:0002544Retrocollis4PRKN CL E G H5071600116Parkinson disease 2600116C1868675OMIM17058607602544
HP:0001332HP:0002544Retrocollis4PSAP CL E G H5660139406ORPHA17729498176801
HP:0001332HP:0002544Retrocollis4PSAP CL E G H5660309256ORPHA17729498176801
HP:0001332HP:0002544Retrocollis4PSAP CL E G H5660309263ORPHA17729498176801
HP:0001332HP:0002544Retrocollis4PSAP CL E G H5660309271ORPHA17729498176801
HP:0001332HP:0002544Retrocollis4PSEN1 CL E G H5663607822Alzheimer disease, type 3607822C1843013OMIM15019508104311
HP:0001332HP:0002544Retrocollis4PTS CL E G H58052616406-pyruvoyl-tetrahydropterin synthase deficiency261640C0878676OMIM12639689612719
HP:0001332HP:0002544Retrocollis4QDPR CL E G H5860261630Dihydropteridine reductase deficiency261630C0268465OMIM13199752612676
HP:0001332HP:0002544Retrocollis4RAB11B CL E G H9230617807NEURODEVELOPMENTAL DISORDER WITH ATAXIC GAIT, ABSENT SPEECH, AND DECREASED CORTICAL WHITE MATTER617807C4540498OMIM11619761604198
HP:0001332HP:0002544Retrocollis4RARS CL E G H5917438114ORPHA19870107820
HP:0001332HP:0002544Retrocollis4RHOBTB2 CL E G H23221618004EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 64618004CN248512OMIM159218756607352
HP:0001332HP:0002544Retrocollis4RNASEH2A CL E G H1053551ORPHA140418518606034
HP:0001332HP:0002544Retrocollis4RNASEH2A CL E G H10535610333Aicardi Goutieres syndrome 4610333C1835912OMIM140418518606034
HP:0001332HP:0002544Retrocollis4RNASEH2B CL E G H7962151ORPHA142625671610326
HP:0001332HP:0002544Retrocollis4RNASEH2C CL E G H8415351ORPHA130724116610330
HP:0001332HP:0002544Retrocollis4RNASEH2C CL E G H84153610329Aicardi Goutieres syndrome 3610329C1835916OMIM130724116610330
HP:0001332HP:0002544Retrocollis4SAMHD1 CL E G H2593951ORPHA174615925606754
HP:0001332HP:0002544Retrocollis4SDHA CL E G H6389255241ORPHA1250310680600857
HP:0001332HP:0002544Retrocollis4SDHA CL E G H6389256000Leigh syndrome256000C0023264OMIM1250310680600857
HP:0001332HP:0002544Retrocollis4SDHA CL E G H6389252011Mitochondrial complex II deficiency252011C1855008OMIM1250310680600857
HP:0001332HP:0002544Retrocollis4SDHAF1 CL E G H644096252011Mitochondrial complex II deficiency252011C1855008OMIM17733867612848
HP:0001332HP:0002544Retrocollis4SDHD CL E G H6392252011Mitochondrial complex II deficiency252011C1855008OMIM168610683602690
HP:0001332HP:0002544Retrocollis4SERAC1 CL E G H849476147393-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome614739C3553597OMIM140021061614725
HP:0001332HP:0002544Retrocollis4SLC19A3 CL E G H80704255241ORPHA156316266606152
HP:0001332HP:0002544Retrocollis4SLC19A3 CL E G H80704607483Basal ganglia disease, biotin-responsive607483C1843807OMIM156316266606152
HP:0001332HP:0002544Retrocollis4SLC20A2 CL E G H6575213600Idiopathic basal ganglia calcification 1213600C0393590OMIM133710947158378
HP:0001332HP:0002544Retrocollis4SLC2A1 CL E G H651353583ORPHA196511005138140
HP:0001332HP:0002544Retrocollis4SLC2A1 CL E G H651371277ORPHA196511005138140
HP:0001332HP:0002544Retrocollis4SLC2A1 CL E G H6513601042Dystonia 9601042C1832855OMIM196511005138140
HP:0001332HP:0002544Retrocollis4SLC2A1 CL E G H6513612126GLUT1 deficiency syndrome 2612126C1842534OMIM196511005138140
HP:0001332HP:0002544Retrocollis4SLC30A10 CL E G H55532309854ORPHA127525355611146
HP:0001332HP:0002544Retrocollis4SLC30A10 CL E G H55532613280Hypermanganesemia with dystonia 1613280OMIM127525355611146
HP:0001332HP:0002544Retrocollis4SLC30A9 CL E G H10463617595Birk-Landau-Perez syndrome617595C4539828OMIM1451329604604
HP:0001332HP:0002544Retrocollis4SLC6A8 CL E G H653552503ORPHA1106211055300036
HP:0001332HP:0002544Retrocollis4SLC6A8 CL E G H6535300352Creatine deficiency, X-linked300352C1845862OMIM1106211055300036
HP:0001332HP:0002544Retrocollis4SLC9A6 CL E G H1047985278ORPHA161211079300231
HP:0001332HP:0002544Retrocollis4SNCA CL E G H6622171695ORPHA119311138163890
HP:0001332HP:0002544Retrocollis4SNCA CL E G H6622168601Parkinson disease 1168601C1868595OMIM119311138163890
HP:0001332HP:0002544Retrocollis4SNCAIP CL E G H9627168600Parkinson disease, late-onset168600C3160718OMIM116011139603779
HP:0001332HP:0002544Retrocollis4SNORD118 CL E G H727676614561Leukoencephalopathy, brain calcifications, and cysts614561C3281200OMIM118932952616663
HP:0001332HP:0002544Retrocollis4SPR CL E G H6697612716Sepiapterin reductase deficiency612716C0268468OMIM119811257182125
HP:0001332HP:0002544Retrocollis4SQSTM1 CL E G H8878617145Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset617145C4310693OMIM167711280601530
HP:0001332HP:0002544Retrocollis4STN1 CL E G H79991617341Cerebroretinal microangiopathy with calcifications and cysts 2617341C4479220OMIM122526200613128
HP:0001332HP:0002544Retrocollis4SUCLA2 CL E G H8803612073Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)612073C2749864OMIM141311448603921
HP:0001332HP:0002544Retrocollis4SURF1 CL E G H6834255241ORPHA153211474185620
HP:0001332HP:0002544Retrocollis4SURF1 CL E G H6834616684Charcot-Marie-Tooth disease, type 4k616684C4225246OMIM153211474185620
HP:0001332HP:0002544Retrocollis4SURF1 CL E G H6834256000Leigh syndrome256000C0023264OMIM153211474185620
HP:0001332HP:0002544Retrocollis4SYNJ1 CL E G H8867391411ORPHA1131511503604297
HP:0001332HP:0002544Retrocollis4SYNJ1 CL E G H8867615530Parkinson disease 20, early-onset615530C3809824OMIM1131511503604297
HP:0001332HP:0002544Retrocollis4SYT1 CL E G H6857618218BAKER-GORDON SYNDROME618218OMIM17611509185605
HP:0001332HP:0002544Retrocollis4TACO1 CL E G H51204255241ORPHA111724316612958
HP:0001332HP:0002544Retrocollis4TBC1D24 CL E G H57465352596ORPHA189329203613577
HP:0001332HP:0002544Retrocollis4TBC1D24 CL E G H57465615338Early infantile epileptic encephalopathy 16615338C3809173OMIM189329203613577
HP:0001332HP:0002544Retrocollis4TBP CL E G H6908607136Spinocerebellar ataxia 17607136C1846707OMIM113111588600075
HP:0001332HP:0002544Retrocollis4TIMM8A CL E G H1678304700Mohr-Tranebjaerg syndrome304700C0796074OMIM122711817300356
HP:0001332HP:0002544Retrocollis4TMEM106B CL E G H54664617964LEUKODYSTROPHY, HYPOMYELINATING, 16617964CN244907OMIM112822407613413
HP:0001332HP:0002544Retrocollis4TPI1 CL E G H7167615512Triosephosphate isomerase deficiency615512C1860808OMIM118112009190450
HP:0001332HP:0002544Retrocollis4TPK1 CL E G H27010614458Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type)614458C3280866OMIM131817358606370
HP:0001332HP:0002544Retrocollis4TRAPPC11 CL E G H60684615356Limb-girdle muscular dystrophy, type 2S615356C3809236OMIM198325751614138
HP:0001332HP:0002544Retrocollis4TRAPPC12 CL E G H51112617669ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND SPASTICITY617669C4540059OMIM120224284614139
HP:0001332HP:0002544Retrocollis4TREX1 CL E G H1127751ORPHA141812269606609
HP:0001332HP:0002544Retrocollis4TREX1 CL E G H11277225750Aicardi Goutieres syndrome 1225750C0796126OMIM141812269606609
HP:0001332HP:0002544Retrocollis4TRIT1 CL E G H54802617873COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 35617873CN807948OMIM111320286617840
HP:0001332HP:0002544Retrocollis4TSEN2 CL E G H80746612389Pontocerebellar hypoplasia type 2B612389C2676466OMIM128028422608753
HP:0001332HP:0002544Retrocollis4TSEN34 CL E G H79042612390Pontocerebellar hypoplasia type 2C612390C2676465OMIM116815506608754
HP:0001332HP:0002544Retrocollis4TSFM CL E G H10102610505Combined oxidative phosphorylation deficiency 3610505C1864840OMIM143412367604723
HP:0001332HP:0002544Retrocollis4TTC19 CL E G H54902615157Mitochondrial complex III deficiency, nuclear type 2615157C3554605OMIM134326006613814
HP:0001332HP:0002544Retrocollis4TUBB4A CL E G H10382612438Leukodystrophy, hypomyelinating, 6612438C2676244OMIM127220774602662
HP:0001332HP:0002544Retrocollis4TXN2 CL E G H25828616811Combined oxidative phosphorylation deficiency 29616811C4225200OMIM17617772609063
HP:0001332HP:0002544Retrocollis4UBA5 CL E G H79876617132Epileptic encephalopathy, early infantile, 44617132C4310700OMIM122323230610552
HP:0001332HP:0002544Retrocollis4UBQLN2 CL E G H29978300857Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia300857C3275459OMIM127312509300264
HP:0001332HP:0002544Retrocollis4UBTF CL E G H7343617672NEURODEGENERATION, CHILDHOOD-ONSET, WITH BRAIN ATROPHY617672C4540086OMIM18412511600673
HP:0001332HP:0002544Retrocollis4UFM1 CL E G H51569617899LEUKODYSTROPHY, HYPOMYELINATING, 14617899CN845004OMIM17720597610553
HP:0001332HP:0002544Retrocollis4UPB1 CL E G H51733613161Deficiency of beta-ureidopropionase613161C1291512OMIM127116297606673
HP:0001332HP:0002544Retrocollis4UQCRQ CL E G H27089615159Mitochondrial complex III deficiency, nuclear type 4615159C3554607OMIM110229594612080
HP:0001332HP:0002544Retrocollis4VAMP1 CL E G H6843108600Ataxia, spastic, 1, autosomal dominant108600C1970107OMIM114112642185880
HP:0001332HP:0002544Retrocollis4VCP CL E G H7415167320Inclusion body myopathy with early-onset paget disease and frontotemporal dementia167320C1833662OMIM160712666601023
HP:0001332HP:0002544Retrocollis4VPS13A CL E G H232302388ORPHA123621908605978
HP:0001332HP:0002544Retrocollis4VPS13A CL E G H23230200150Choreoacanthocytosis200150C0393576OMIM123621908605978
HP:0001332HP:0002544Retrocollis4VPS13D CL E G H55187607317Spinocerebellar ataxia autosomal recessive 4607317C1846492OMIM1103423595608877
HP:0001332HP:0002544Retrocollis4WARS2 CL E G H10352617710NEURODEVELOPMENTAL DISORDER, MITOCHONDRIAL, WITH ABNORMAL MOVEMENTS AND LACTIC ACIDOSIS, WITH OR WITHOUT SEIZURES617710C4540192OMIM114412730604733
HP:0001332HP:0002544Retrocollis4WDR45 CL E G H11152329284ORPHA158728912300526
HP:0001332HP:0002544Retrocollis4WDR45 CL E G H11152300894Neurodegeneration with brain iron accumulation 5300894C3550973OMIM158728912300526
HP:0001332HP:0002544Retrocollis4YY1 CL E G H7528617557GABRIELE-DE VRIES SYNDROME617557C4479652OMIM111712856600013
HP:0001332HP:0002544Retrocollis4ZC4H2 CL E G H55906314580Wieacker Wolff syndrome314580C0796200OMIM127924931300897
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0001332HP:0001332Dystonia0AFG3L2 CL E G H10939610246Spinocerebellar ataxia 28610246C1853249OMIM0480315604581
HP:0001332HP:0001332Dystonia0AGTPBP1 CL E G H23287618276618276618276OMIM010517258606830
HP:0001332HP:0001332Dystonia0ALS2 CL E G H57679205100Amyotrophic lateral sclerosis type 2205100C1859807OMIM0947443606352
HP:0001332HP:0001332Dystonia0ATP1A3 CL E G H4781171ORPHA0993801182350
HP:0001332HP:0001332Dystonia0ATXN3 CL E G H4287109150Azorean disease109150C0024408OMIM0657106607047
HP:0001332HP:0001332Dystonia0AUH CL E G H54967046ORPHA0249890600529
HP:0001332HP:0001332Dystonia0B4GALNT1 CL E G H2583101006ORPHA02954117601873
HP:0001332HP:0001332Dystonia0C9orf72 CL E G H203228401901ORPHA017728337614260
HP:0001332HP:0001332Dystonia0COQ8A CL E G H56997139485ORPHA069916812606980
HP:0001332HP:0001332Dystonia0CYP2U1 CL E G H113612320411ORPHA029120582610670
HP:0001332HP:0001332Dystonia0DNAJC13 CL E G H23317411602ORPHA023730343614334
HP:0001332HP:0001332Dystonia0DNAJC19 CL E G H13111866634ORPHA014230528608977
HP:0001332HP:0001332Dystonia0DNAJC6 CL E G H9829615528Parkinson disease 19a, juvenile-onset615528C3809811OMIM031015469608375
HP:0001332HP:0001332Dystonia0EIF4G1 CL E G H1981411602ORPHA01473296600495
HP:0001332HP:0001332Dystonia0EMC1 CL E G H23065616875Cerebellar atrophy, visual impairment, and psychomotor retardation616875C4225172OMIM093828957616846
HP:0001332HP:0001332Dystonia0FBXL4 CL E G H26235615471Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)615471C3809592OMIM056613601605654
HP:0001332HP:0001332Dystonia0FXN CL E G H239595ORPHA01583951606829
HP:0001332HP:0001332Dystonia0GBA CL E G H2629411602ORPHA04177606463
HP:0001332HP:0001332Dystonia0GIGYF2 CL E G H26058411602ORPHA033811960612003
HP:0001332HP:0001332Dystonia0GNAO1 CL E G H2775615473Early infantile epileptic encephalopathy 17615473C3809606OMIM04294389139311
HP:0001332HP:0001332Dystonia0GRIK2 CL E G H2898611092Mental retardation, autosomal recessive 6611092C1970198OMIM01894580138244
HP:0001332HP:0001332Dystonia0HACE1 CL E G H57531616756Spastic paraplegia and psychomotor retardation with or without seizures616756C4225215OMIM022721033610876
HP:0001332HP:0001332Dystonia0JPH3 CL E G H5733898934ORPHA017614203605268
HP:0001332HP:0001332Dystonia0KAT6A CL E G H7994457193ORPHA0105113013601408
HP:0001332HP:0001332Dystonia0LRRK2 CL E G H120892411602ORPHA0294818618609007
HP:0001332HP:0001332Dystonia0MICU1 CL E G H10367615673Myopathy with extrapyramidal signs615673C3810285OMIM02651530605084
HP:0001332HP:0001332Dystonia0MMUT CL E G H4594289916ORPHA08967526609058
HP:0001332HP:0001332Dystonia0MT-CO1 CL E G H4512550ORPHA07419516030
HP:0001332HP:0001332Dystonia0MT-CO2 CL E G H4513550ORPHA07421516040
HP:0001332HP:0001332Dystonia0MT-CO3 CL E G H4514550ORPHA07422516050
HP:0001332HP:0001332Dystonia0MT-ND1 CL E G H4535550ORPHA07455516000
HP:0001332HP:0001332Dystonia0MT-ND4 CL E G H4538550ORPHA07459516003
HP:0001332HP:0001332Dystonia0MT-ND5 CL E G H4540550ORPHA07461516005
HP:0001332HP:0001332Dystonia0MT-ND6 CL E G H4541550ORPHA07462516006
HP:0001332HP:0001332Dystonia0MT-TF CL E G H4558550ORPHA07481590070
HP:0001332HP:0001332Dystonia0MT-TH CL E G H4564550ORPHA07487590040
HP:0001332HP:0001332Dystonia0MT-TL1 CL E G H4567550ORPHA07490590050
HP:0001332HP:0001332Dystonia0MT-TQ CL E G H4572550ORPHA07495590030
HP:0001332HP:0001332Dystonia0MT-TS1 CL E G H4574550ORPHA07497590080
HP:0001332HP:0001332Dystonia0MT-TS2 CL E G H4575550ORPHA07498590085
HP:0001332HP:0001332Dystonia0MT-TW CL E G H4578550ORPHA07501590095
HP:0001332HP:0001332Dystonia0MTO1 CL E G H25821614702Combined oxidative phosphorylation deficiency 10614702C3553529OMIM063819261614667
HP:0001332HP:0001332Dystonia0OFD1 CL E G H84812750ORPHA010202567300170
HP:0001332HP:0001332Dystonia0PIK3R5 CL E G H2353364753ORPHA09030035611317
HP:0001332HP:0001332Dystonia0PLEKHG2 CL E G H64857616763Leukodystrophy and acquired microcephaly with or without dystonia616763C4225213OMIM040829515611893
HP:0001332HP:0001332Dystonia0RNASEH2B CL E G H79621610181Aicardi Goutieres syndrome 2610181C3489724OMIM042625671610326
HP:0001332HP:0001332Dystonia0RNASET2 CL E G H8635612951Leukoencephalopathy, cystic, without megalencephaly612951C2751843OMIM019921686612944
HP:0001332HP:0001332Dystonia0SETX CL E G H2306464753ORPHA01556445608465
HP:0001332HP:0001332Dystonia0SETX CL E G H23064606002Spinocerebellar ataxia autosomal recessive 1606002C1853761OMIM01556445608465
HP:0001332HP:0001332Dystonia0SNCA CL E G H6622411602ORPHA019311138163890
HP:0001332HP:0001332Dystonia0TAF1 CL E G H6872300966Mental retardation, X-linked, syndromic 33300966C4225418OMIM053411535313650
HP:0001332HP:0001332Dystonia0TANGO2 CL E G H128989616878TANGO2-Related Metabolic Encephalopathy and Arrhythmias616878C4225171OMIM071525439616830
HP:0001332HP:0001332Dystonia0TTBK2 CL E G H14605798767ORPHA033819141611695
HP:0001332HP:0001332Dystonia0TTPA CL E G H727496ORPHA038912404600415
HP:0001332HP:0001332Dystonia0VAMP1 CL E G H6843251282ORPHA014112642185880
HP:0001332HP:0001332Dystonia0VPS35 CL E G H55737411602ORPHA022813487601501
HP:0001332HP:0001332Dystonia0VPS37A CL E G H137492614898Spastic paraplegia 53, autosomal recessive614898C3539494OMIM025924928609927
HP:0001332HP:0001332Dystonia0WDR73 CL E G H84942251300Galloway-Mowat syndrome 1251300CN031715OMIM022025928616144
HP:0001332HP:0002530Axial dystonia1AFG3L2 CL E G H10939610246Spinocerebellar ataxia 28610246C1853249OMIM0480315604581
HP:0001332HP:0004373Focal dystonia1AFG3L2 CL E G H10939610246Spinocerebellar ataxia 28610246C1853249OMIM0480315604581
HP:0001332HP:0007325Generalized dystonia1AFG3L2 CL E G H10939610246Spinocerebellar ataxia 28610246C1853249OMIM0480315604581
HP:0001332HP:0032005Hemidystonia1AFG3L2 CL E G H10939610246Spinocerebellar ataxia 28610246C1853249OMIM0480315604581
HP:0001332HP:0002451Limb dystonia1AFG3L2 CL E G H10939610246Spinocerebellar ataxia 28610246C1853249OMIM0480315604581
HP:0001332HP:0010553Oculogyric crisis1AFG3L2 CL E G H10939610246Spinocerebellar ataxia 28610246C1853249OMIM0480315604581
HP:0001332HP:0002268Paroxysmal dystonia1AFG3L2 CL E G H10939610246Spinocerebellar ataxia 28610246C1853249OMIM0480315604581
HP:0001332HP:0001304Torsion dystonia1AFG3L2 CL E G H10939610246Spinocerebellar ataxia 28610246C1853249OMIM0480315604581
HP:0001332HP:0002530Axial dystonia1AGTPBP1 CL E G H23287618276618276618276OMIM010517258606830
HP:0001332HP:0004373Focal dystonia1AGTPBP1 CL E G H23287618276618276618276OMIM010517258606830
HP:0001332HP:0007325Generalized dystonia1AGTPBP1 CL E G H23287618276618276618276OMIM010517258606830
HP:0001332HP:0032005Hemidystonia1AGTPBP1 CL E G H23287618276618276618276OMIM010517258606830
HP:0001332HP:0002451Limb dystonia1AGTPBP1 CL E G H23287618276618276618276OMIM010517258606830
HP:0001332HP:0010553Oculogyric crisis1AGTPBP1 CL E G H23287618276618276618276OMIM010517258606830
HP:0001332HP:0002268Paroxysmal dystonia1AGTPBP1 CL E G H23287618276618276618276OMIM010517258606830
HP:0001332HP:0001304Torsion dystonia1AGTPBP1 CL E G H23287618276618276618276OMIM010517258606830
HP:0001332HP:0002530Axial dystonia1ALS2 CL E G H57679205100Amyotrophic lateral sclerosis type 2205100C1859807OMIM0947443606352
HP:0001332HP:0004373Focal dystonia1ALS2 CL E G H57679205100Amyotrophic lateral sclerosis type 2205100C1859807OMIM0947443606352
HP:0001332HP:0007325Generalized dystonia1ALS2 CL E G H57679205100Amyotrophic lateral sclerosis type 2205100C1859807OMIM0947443606352
HP:0001332HP:0032005Hemidystonia1ALS2 CL E G H57679205100Amyotrophic lateral sclerosis type 2205100C1859807OMIM0947443606352
HP:0001332HP:0002451Limb dystonia1ALS2 CL E G H57679205100Amyotrophic lateral sclerosis type 2205100C1859807OMIM0947443606352
HP:0001332HP:0010553Oculogyric crisis1ALS2 CL E G H57679205100Amyotrophic lateral sclerosis type 2205100C1859807OMIM0947443606352
HP:0001332HP:0002268Paroxysmal dystonia1ALS2 CL E G H57679205100Amyotrophic lateral sclerosis type 2205100C1859807OMIM0947443606352
HP:0001332HP:0001304Torsion dystonia1ALS2 CL E G H57679205100Amyotrophic lateral sclerosis type 2205100C1859807OMIM0947443606352
HP:0001332HP:0002530Axial dystonia1ATP1A3 CL E G H4781171ORPHA0993801182350
HP:0001332HP:0004373Focal dystonia1ATP1A3 CL E G H4781171ORPHA0993801182350
HP:0001332HP:0007325Generalized dystonia1ATP1A3 CL E G H4781171ORPHA0993801182350
HP:0001332HP:0032005Hemidystonia1ATP1A3 CL E G H4781171ORPHA0993801182350
HP:0001332HP:0002451Limb dystonia1ATP1A3 CL E G H4781171ORPHA0993801182350
HP:0001332HP:0010553Oculogyric crisis1ATP1A3 CL E G H4781171ORPHA0993801182350
HP:0001332HP:0002268Paroxysmal dystonia1ATP1A3 CL E G H4781171ORPHA0993801182350
HP:0001332HP:0001304Torsion dystonia1ATP1A3 CL E G H4781171ORPHA0993801182350
HP:0001332HP:0002530Axial dystonia1ATXN3 CL E G H4287109150Azorean disease109150C0024408OMIM0657106607047
HP:0001332HP:0004373Focal dystonia1ATXN3 CL E G H4287109150Azorean disease109150C0024408OMIM0657106607047
HP:0001332HP:0007325Generalized dystonia1ATXN3 CL E G H4287109150Azorean disease109150C0024408OMIM0657106607047
HP:0001332HP:0032005Hemidystonia1ATXN3 CL E G H4287109150Azorean disease109150C0024408OMIM0657106607047
HP:0001332HP:0002451Limb dystonia1ATXN3 CL E G H4287109150Azorean disease109150C0024408OMIM0657106607047
HP:0001332HP:0010553Oculogyric crisis1ATXN3 CL E G H4287109150Azorean disease109150C0024408OMIM0657106607047
HP:0001332HP:0002268Paroxysmal dystonia1ATXN3 CL E G H4287109150Azorean disease109150C0024408OMIM0657106607047
HP:0001332HP:0001304Torsion dystonia1ATXN3 CL E G H4287109150Azorean disease109150C0024408OMIM0657106607047
HP:0001332HP:0002530Axial dystonia1AUH CL E G H54967046ORPHA0249890600529
HP:0001332HP:0004373Focal dystonia1AUH CL E G H54967046ORPHA0249890600529
HP:0001332HP:0007325Generalized dystonia1AUH CL E G H54967046ORPHA0249890600529
HP:0001332HP:0032005Hemidystonia1AUH CL E G H54967046ORPHA0249890600529
HP:0001332HP:0002451Limb dystonia1AUH CL E G H54967046ORPHA0249890600529
HP:0001332HP:0010553Oculogyric crisis1AUH CL E G H54967046ORPHA0249890600529
HP:0001332HP:0002268Paroxysmal dystonia1AUH CL E G H54967046ORPHA0249890600529
HP:0001332HP:0001304Torsion dystonia1AUH CL E G H54967046ORPHA0249890600529
HP:0001332HP:0002530Axial dystonia1B4GALNT1 CL E G H2583101006ORPHA02954117601873
HP:0001332HP:0004373Focal dystonia1B4GALNT1 CL E G H2583101006ORPHA02954117601873
HP:0001332HP:0007325Generalized dystonia1B4GALNT1 CL E G H2583101006ORPHA02954117601873
HP:0001332HP:0032005Hemidystonia1B4GALNT1 CL E G H2583101006ORPHA02954117601873
HP:0001332HP:0002451Limb dystonia1B4GALNT1 CL E G H2583101006ORPHA02954117601873
HP:0001332HP:0010553Oculogyric crisis1B4GALNT1 CL E G H2583101006ORPHA02954117601873
HP:0001332HP:0002268Paroxysmal dystonia1B4GALNT1 CL E G H2583101006ORPHA02954117601873
HP:0001332HP:0001304Torsion dystonia1B4GALNT1 CL E G H2583101006ORPHA02954117601873
HP:0001332HP:0002530Axial dystonia1C9orf72 CL E G H203228401901ORPHA017728337614260
HP:0001332HP:0004373Focal dystonia1C9orf72 CL E G H203228401901ORPHA017728337614260
HP:0001332HP:0007325Generalized dystonia1C9orf72 CL E G H203228401901ORPHA017728337614260
HP:0001332HP:0032005Hemidystonia1C9orf72 CL E G H203228401901ORPHA017728337614260
HP:0001332HP:0002451Limb dystonia1C9orf72 CL E G H203228401901ORPHA017728337614260
HP:0001332HP:0010553Oculogyric crisis1C9orf72 CL E G H203228401901ORPHA017728337614260
HP:0001332HP:0002268Paroxysmal dystonia1C9orf72 CL E G H203228401901ORPHA017728337614260
HP:0001332HP:0001304Torsion dystonia1C9orf72 CL E G H203228401901ORPHA017728337614260
HP:0001332HP:0002530Axial dystonia1COQ8A CL E G H56997139485ORPHA069916812606980
HP:0001332HP:0004373Focal dystonia1COQ8A CL E G H56997139485ORPHA069916812606980
HP:0001332HP:0007325Generalized dystonia1COQ8A CL E G H56997139485ORPHA069916812606980
HP:0001332HP:0032005Hemidystonia1COQ8A CL E G H56997139485ORPHA069916812606980
HP:0001332HP:0002451Limb dystonia1COQ8A CL E G H56997139485ORPHA069916812606980
HP:0001332HP:0010553Oculogyric crisis1COQ8A CL E G H56997139485ORPHA069916812606980
HP:0001332HP:0002268Paroxysmal dystonia1COQ8A CL E G H56997139485ORPHA069916812606980
HP:0001332HP:0001304Torsion dystonia1COQ8A CL E G H56997139485ORPHA069916812606980
HP:0001332HP:0002530Axial dystonia1CYP2U1 CL E G H113612320411ORPHA029120582610670
HP:0001332HP:0004373Focal dystonia1CYP2U1 CL E G H113612320411ORPHA029120582610670
HP:0001332HP:0007325Generalized dystonia1CYP2U1 CL E G H113612320411ORPHA029120582610670
HP:0001332HP:0032005Hemidystonia1CYP2U1 CL E G H113612320411ORPHA029120582610670
HP:0001332HP:0002451Limb dystonia1CYP2U1 CL E G H113612320411ORPHA029120582610670
HP:0001332HP:0010553Oculogyric crisis1CYP2U1 CL E G H113612320411ORPHA029120582610670
HP:0001332HP:0002268Paroxysmal dystonia1CYP2U1 CL E G H113612320411ORPHA029120582610670
HP:0001332HP:0001304Torsion dystonia1CYP2U1 CL E G H113612320411ORPHA029120582610670
HP:0001332HP:0002530Axial dystonia1DNAJC13 CL E G H23317411602ORPHA023730343614334
HP:0001332HP:0004373Focal dystonia1DNAJC13 CL E G H23317411602ORPHA023730343614334
HP:0001332HP:0007325Generalized dystonia1DNAJC13 CL E G H23317411602ORPHA023730343614334
HP:0001332HP:0032005Hemidystonia1DNAJC13 CL E G H23317411602ORPHA023730343614334
HP:0001332HP:0002451Limb dystonia1DNAJC13 CL E G H23317411602ORPHA023730343614334
HP:0001332HP:0010553Oculogyric crisis1DNAJC13 CL E G H23317411602ORPHA023730343614334
HP:0001332HP:0002268Paroxysmal dystonia1DNAJC13 CL E G H23317411602ORPHA023730343614334
HP:0001332HP:0001304Torsion dystonia1DNAJC13 CL E G H23317411602ORPHA023730343614334
HP:0001332HP:0002530Axial dystonia1DNAJC19 CL E G H13111866634ORPHA014230528608977
HP:0001332HP:0004373Focal dystonia1DNAJC19 CL E G H13111866634ORPHA014230528608977
HP:0001332HP:0007325Generalized dystonia1DNAJC19 CL E G H13111866634ORPHA014230528608977
HP:0001332HP:0032005Hemidystonia1DNAJC19 CL E G H13111866634ORPHA014230528608977
HP:0001332HP:0002451Limb dystonia1DNAJC19 CL E G H13111866634ORPHA014230528608977
HP:0001332HP:0010553Oculogyric crisis1DNAJC19 CL E G H13111866634ORPHA014230528608977
HP:0001332HP:0002268Paroxysmal dystonia1DNAJC19 CL E G H13111866634ORPHA014230528608977
HP:0001332HP:0001304Torsion dystonia1DNAJC19 CL E G H13111866634ORPHA014230528608977
HP:0001332HP:0002530Axial dystonia1DNAJC6 CL E G H9829615528Parkinson disease 19a, juvenile-onset615528C3809811OMIM031015469608375
HP:0001332HP:0004373Focal dystonia1DNAJC6 CL E G H9829615528Parkinson disease 19a, juvenile-onset615528C3809811OMIM031015469608375
HP:0001332HP:0007325Generalized dystonia1DNAJC6 CL E G H9829615528Parkinson disease 19a, juvenile-onset615528C3809811OMIM031015469608375
HP:0001332HP:0032005Hemidystonia1DNAJC6 CL E G H9829615528Parkinson disease 19a, juvenile-onset615528C3809811OMIM031015469608375
HP:0001332HP:0002451Limb dystonia1DNAJC6 CL E G H9829615528Parkinson disease 19a, juvenile-onset615528C3809811OMIM031015469608375
HP:0001332HP:0010553Oculogyric crisis1DNAJC6 CL E G H9829615528Parkinson disease 19a, juvenile-onset615528C3809811OMIM031015469608375
HP:0001332HP:0002268Paroxysmal dystonia1DNAJC6 CL E G H9829615528Parkinson disease 19a, juvenile-onset615528C3809811OMIM031015469608375
HP:0001332HP:0001304Torsion dystonia1DNAJC6 CL E G H9829615528Parkinson disease 19a, juvenile-onset615528C3809811OMIM031015469608375
HP:0001332HP:0002530Axial dystonia1EIF4G1 CL E G H1981411602ORPHA01473296600495
HP:0001332HP:0004373Focal dystonia1EIF4G1 CL E G H1981411602ORPHA01473296600495
HP:0001332HP:0007325Generalized dystonia1EIF4G1 CL E G H1981411602ORPHA01473296600495
HP:0001332HP:0032005Hemidystonia1EIF4G1 CL E G H1981411602ORPHA01473296600495
HP:0001332HP:0002451Limb dystonia1EIF4G1 CL E G H1981411602ORPHA01473296600495
HP:0001332HP:0010553Oculogyric crisis1EIF4G1 CL E G H1981411602ORPHA01473296600495
HP:0001332HP:0002268Paroxysmal dystonia1EIF4G1 CL E G H1981411602ORPHA01473296600495
HP:0001332HP:0001304Torsion dystonia1EIF4G1 CL E G H1981411602ORPHA01473296600495
HP:0001332HP:0002530Axial dystonia1EMC1 CL E G H23065616875Cerebellar atrophy, visual impairment, and psychomotor retardation616875C4225172OMIM093828957616846
HP:0001332HP:0004373Focal dystonia1EMC1 CL E G H23065616875Cerebellar atrophy, visual impairment, and psychomotor retardation616875C4225172OMIM093828957616846
HP:0001332HP:0007325Generalized dystonia1EMC1 CL E G H23065616875Cerebellar atrophy, visual impairment, and psychomotor retardation616875C4225172OMIM093828957616846
HP:0001332HP:0032005Hemidystonia1EMC1 CL E G H23065616875Cerebellar atrophy, visual impairment, and psychomotor retardation616875C4225172OMIM093828957616846
HP:0001332HP:0002451Limb dystonia1EMC1 CL E G H23065616875Cerebellar atrophy, visual impairment, and psychomotor retardation616875C4225172OMIM093828957616846
HP:0001332HP:0010553Oculogyric crisis1EMC1 CL E G H23065616875Cerebellar atrophy, visual impairment, and psychomotor retardation616875C4225172OMIM093828957616846
HP:0001332HP:0002268Paroxysmal dystonia1EMC1 CL E G H23065616875Cerebellar atrophy, visual impairment, and psychomotor retardation616875C4225172OMIM093828957616846
HP:0001332HP:0001304Torsion dystonia1EMC1 CL E G H23065616875Cerebellar atrophy, visual impairment, and psychomotor retardation616875C4225172OMIM093828957616846
HP:0001332HP:0002530Axial dystonia1FBXL4 CL E G H26235615471Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)615471C3809592OMIM056613601605654
HP:0001332HP:0004373Focal dystonia1FBXL4 CL E G H26235615471Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)615471C3809592OMIM056613601605654
HP:0001332HP:0007325Generalized dystonia1FBXL4 CL E G H26235615471Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)615471C3809592OMIM056613601605654
HP:0001332HP:0032005Hemidystonia1FBXL4 CL E G H26235615471Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)615471C3809592OMIM056613601605654
HP:0001332HP:0002451Limb dystonia1FBXL4 CL E G H26235615471Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)615471C3809592OMIM056613601605654
HP:0001332HP:0010553Oculogyric crisis1FBXL4 CL E G H26235615471Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)615471C3809592OMIM056613601605654
HP:0001332HP:0002268Paroxysmal dystonia1FBXL4 CL E G H26235615471Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)615471C3809592OMIM056613601605654
HP:0001332HP:0001304Torsion dystonia1FBXL4 CL E G H26235615471Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)615471C3809592OMIM056613601605654
HP:0001332HP:0002530Axial dystonia1FXN CL E G H239595ORPHA01583951606829
HP:0001332HP:0004373Focal dystonia1FXN CL E G H239595ORPHA01583951606829
HP:0001332HP:0007325Generalized dystonia1FXN CL E G H239595ORPHA01583951606829
HP:0001332HP:0032005Hemidystonia1FXN CL E G H239595ORPHA01583951606829
HP:0001332HP:0002451Limb dystonia1FXN CL E G H239595ORPHA01583951606829
HP:0001332HP:0010553Oculogyric crisis1FXN CL E G H239595ORPHA01583951606829
HP:0001332HP:0002268Paroxysmal dystonia1FXN CL E G H239595ORPHA01583951606829
HP:0001332HP:0001304Torsion dystonia1FXN CL E G H239595ORPHA01583951606829
HP:0001332HP:0002530Axial dystonia1GBA CL E G H2629411602ORPHA04177606463
HP:0001332HP:0004373Focal dystonia1GBA CL E G H2629411602ORPHA04177606463
HP:0001332HP:0007325Generalized dystonia1GBA CL E G H2629411602ORPHA04177606463
HP:0001332HP:0032005Hemidystonia1GBA CL E G H2629411602ORPHA04177606463
HP:0001332HP:0002451Limb dystonia1GBA CL E G H2629411602ORPHA04177606463
HP:0001332HP:0010553Oculogyric crisis1GBA CL E G H2629411602ORPHA04177606463
HP:0001332HP:0002268Paroxysmal dystonia1GBA CL E G H2629411602ORPHA04177606463
HP:0001332HP:0001304Torsion dystonia1GBA CL E G H2629411602ORPHA04177606463
HP:0001332HP:0002530Axial dystonia1GIGYF2 CL E G H26058411602ORPHA033811960612003
HP:0001332HP:0004373Focal dystonia1GIGYF2 CL E G H26058411602ORPHA033811960612003
HP:0001332HP:0007325Generalized dystonia1GIGYF2 CL E G H26058411602ORPHA033811960612003
HP:0001332HP:0032005Hemidystonia1GIGYF2 CL E G H26058411602ORPHA033811960612003
HP:0001332HP:0002451Limb dystonia1GIGYF2 CL E G H26058411602ORPHA033811960612003
HP:0001332HP:0010553Oculogyric crisis1GIGYF2 CL E G H26058411602ORPHA033811960612003
HP:0001332HP:0002268Paroxysmal dystonia1GIGYF2 CL E G H26058411602ORPHA033811960612003
HP:0001332HP:0001304Torsion dystonia1GIGYF2 CL E G H26058411602ORPHA033811960612003
HP:0001332HP:0002530Axial dystonia1GNAO1 CL E G H2775615473Early infantile epileptic encephalopathy 17615473C3809606OMIM04294389139311
HP:0001332HP:0004373Focal dystonia1GNAO1 CL E G H2775615473Early infantile epileptic encephalopathy 17615473C3809606OMIM04294389139311
HP:0001332HP:0007325Generalized dystonia1GNAO1 CL E G H2775615473Early infantile epileptic encephalopathy 17615473C3809606OMIM04294389139311
HP:0001332HP:0032005Hemidystonia1GNAO1 CL E G H2775615473Early infantile epileptic encephalopathy 17615473C3809606OMIM04294389139311
HP:0001332HP:0002451Limb dystonia1GNAO1 CL E G H2775615473Early infantile epileptic encephalopathy 17615473C3809606OMIM04294389139311
HP:0001332HP:0010553Oculogyric crisis1GNAO1 CL E G H2775615473Early infantile epileptic encephalopathy 17615473C3809606OMIM04294389139311
HP:0001332HP:0002268Paroxysmal dystonia1GNAO1 CL E G H2775615473Early infantile epileptic encephalopathy 17615473C3809606OMIM04294389139311
HP:0001332HP:0001304Torsion dystonia1GNAO1 CL E G H2775615473Early infantile epileptic encephalopathy 17615473C3809606OMIM04294389139311
HP:0001332HP:0002530Axial dystonia1GRIK2 CL E G H2898611092Mental retardation, autosomal recessive 6611092C1970198OMIM01894580138244
HP:0001332HP:0004373Focal dystonia1GRIK2 CL E G H2898611092Mental retardation, autosomal recessive 6611092C1970198OMIM01894580138244
HP:0001332HP:0007325Generalized dystonia1GRIK2 CL E G H2898611092Mental retardation, autosomal recessive 6611092C1970198OMIM01894580138244
HP:0001332HP:0032005Hemidystonia1GRIK2 CL E G H2898611092Mental retardation, autosomal recessive 6611092C1970198OMIM01894580138244
HP:0001332HP:0002451Limb dystonia1GRIK2 CL E G H2898611092Mental retardation, autosomal recessive 6611092C1970198OMIM01894580138244
HP:0001332HP:0010553Oculogyric crisis1GRIK2 CL E G H2898611092Mental retardation, autosomal recessive 6611092C1970198OMIM01894580138244
HP:0001332HP:0002268Paroxysmal dystonia1GRIK2 CL E G H2898611092Mental retardation, autosomal recessive 6611092C1970198OMIM01894580138244
HP:0001332HP:0001304Torsion dystonia1GRIK2 CL E G H2898611092Mental retardation, autosomal recessive 6611092C1970198OMIM01894580138244
HP:0001332HP:0002530Axial dystonia1HACE1 CL E G H57531616756Spastic paraplegia and psychomotor retardation with or without seizures616756C4225215OMIM022721033610876
HP:0001332HP:0004373Focal dystonia1HACE1 CL E G H57531616756Spastic paraplegia and psychomotor retardation with or without seizures616756C4225215OMIM022721033610876
HP:0001332HP:0007325Generalized dystonia1HACE1 CL E G H57531616756Spastic paraplegia and psychomotor retardation with or without seizures616756C4225215OMIM022721033610876
HP:0001332HP:0032005Hemidystonia1HACE1 CL E G H57531616756Spastic paraplegia and psychomotor retardation with or without seizures616756C4225215OMIM022721033610876
HP:0001332HP:0002451Limb dystonia1HACE1 CL E G H57531616756Spastic paraplegia and psychomotor retardation with or without seizures616756C4225215OMIM022721033610876
HP:0001332HP:0010553Oculogyric crisis1HACE1 CL E G H57531616756Spastic paraplegia and psychomotor retardation with or without seizures616756C4225215OMIM022721033610876
HP:0001332HP:0002268Paroxysmal dystonia1HACE1 CL E G H57531616756Spastic paraplegia and psychomotor retardation with or without seizures616756C4225215OMIM022721033610876
HP:0001332HP:0001304Torsion dystonia1HACE1 CL E G H57531616756Spastic paraplegia and psychomotor retardation with or without seizures616756C4225215OMIM022721033610876
HP:0001332HP:0002530Axial dystonia1JPH3 CL E G H5733898934ORPHA017614203605268
HP:0001332HP:0004373Focal dystonia1JPH3 CL E G H5733898934ORPHA017614203605268
HP:0001332HP:0007325Generalized dystonia1JPH3 CL E G H5733898934ORPHA017614203605268
HP:0001332HP:0032005Hemidystonia1JPH3 CL E G H5733898934ORPHA017614203605268
HP:0001332HP:0002451Limb dystonia1JPH3 CL E G H5733898934ORPHA017614203605268
HP:0001332HP:0010553Oculogyric crisis1JPH3 CL E G H5733898934ORPHA017614203605268
HP:0001332HP:0002268Paroxysmal dystonia1JPH3 CL E G H5733898934ORPHA017614203605268
HP:0001332HP:0001304Torsion dystonia1JPH3 CL E G H5733898934ORPHA017614203605268
HP:0001332HP:0002530Axial dystonia1KAT6A CL E G H7994457193ORPHA0105113013601408
HP:0001332HP:0004373Focal dystonia1KAT6A CL E G H7994457193ORPHA0105113013601408
HP:0001332HP:0007325Generalized dystonia1KAT6A CL E G H7994457193ORPHA0105113013601408
HP:0001332HP:0032005Hemidystonia1KAT6A CL E G H7994457193ORPHA0105113013601408
HP:0001332HP:0002451Limb dystonia1KAT6A CL E G H7994457193ORPHA0105113013601408
HP:0001332HP:0010553Oculogyric crisis1KAT6A CL E G H7994457193ORPHA0105113013601408
HP:0001332HP:0002268Paroxysmal dystonia1KAT6A CL E G H7994457193ORPHA0105113013601408
HP:0001332HP:0001304Torsion dystonia1KAT6A CL E G H7994457193ORPHA0105113013601408
HP:0001332HP:0002530Axial dystonia1LRRK2 CL E G H120892411602ORPHA0294818618609007
HP:0001332HP:0004373Focal dystonia1LRRK2 CL E G H120892411602ORPHA0294818618609007
HP:0001332HP:0007325Generalized dystonia1LRRK2 CL E G H120892411602ORPHA0294818618609007
HP:0001332HP:0032005Hemidystonia1LRRK2 CL E G H120892411602ORPHA0294818618609007
HP:0001332HP:0002451Limb dystonia1LRRK2 CL E G H120892411602ORPHA0294818618609007
HP:0001332HP:0010553Oculogyric crisis1LRRK2 CL E G H120892411602ORPHA0294818618609007
HP:0001332HP:0002268Paroxysmal dystonia1LRRK2 CL E G H120892411602ORPHA0294818618609007
HP:0001332HP:0001304Torsion dystonia1LRRK2 CL E G H120892411602ORPHA0294818618609007
HP:0001332HP:0002530Axial dystonia1MICU1 CL E G H10367615673Myopathy with extrapyramidal signs615673C3810285OMIM02651530605084
HP:0001332HP:0004373Focal dystonia1MICU1 CL E G H10367615673Myopathy with extrapyramidal signs615673C3810285OMIM02651530605084
HP:0001332HP:0007325Generalized dystonia1MICU1 CL E G H10367615673Myopathy with extrapyramidal signs615673C3810285OMIM02651530605084
HP:0001332HP:0032005Hemidystonia1MICU1 CL E G H10367615673Myopathy with extrapyramidal signs615673C3810285OMIM02651530605084
HP:0001332HP:0002451Limb dystonia1MICU1 CL E G H10367615673Myopathy with extrapyramidal signs615673C3810285OMIM02651530605084
HP:0001332HP:0010553Oculogyric crisis1MICU1 CL E G H10367615673Myopathy with extrapyramidal signs615673C3810285OMIM02651530605084
HP:0001332HP:0002268Paroxysmal dystonia1MICU1 CL E G H10367615673Myopathy with extrapyramidal signs615673C3810285OMIM02651530605084
HP:0001332HP:0001304Torsion dystonia1MICU1 CL E G H10367615673Myopathy with extrapyramidal signs615673C3810285OMIM02651530605084
HP:0001332HP:0002530Axial dystonia1MMUT CL E G H4594289916ORPHA08967526609058
HP:0001332HP:0004373Focal dystonia1MMUT CL E G H4594289916ORPHA08967526609058
HP:0001332HP:0007325Generalized dystonia1MMUT CL E G H4594289916ORPHA08967526609058
HP:0001332HP:0032005Hemidystonia1MMUT CL E G H4594289916ORPHA08967526609058
HP:0001332HP:0002451Limb dystonia1MMUT CL E G H4594289916ORPHA08967526609058
HP:0001332HP:0010553Oculogyric crisis1MMUT CL E G H4594289916ORPHA08967526609058
HP:0001332HP:0002268Paroxysmal dystonia1MMUT CL E G H4594289916ORPHA08967526609058
HP:0001332HP:0001304Torsion dystonia1MMUT CL E G H4594289916ORPHA08967526609058
HP:0001332HP:0002530Axial dystonia1MT-CO1 CL E G H4512550ORPHA07419516030
HP:0001332HP:0004373Focal dystonia1MT-CO1 CL E G H4512550ORPHA07419516030
HP:0001332HP:0007325Generalized dystonia1MT-CO1 CL E G H4512550ORPHA07419516030
HP:0001332HP:0032005Hemidystonia1MT-CO1 CL E G H4512550ORPHA07419516030
HP:0001332HP:0002451Limb dystonia1MT-CO1 CL E G H4512550ORPHA07419516030
HP:0001332HP:0010553Oculogyric crisis1MT-CO1 CL E G H4512550ORPHA07419516030
HP:0001332HP:0002268Paroxysmal dystonia1MT-CO1 CL E G H4512550ORPHA07419516030
HP:0001332HP:0001304Torsion dystonia1MT-CO1 CL E G H4512550ORPHA07419516030
HP:0001332HP:0002530Axial dystonia1MT-CO2 CL E G H4513550ORPHA07421516040
HP:0001332HP:0004373Focal dystonia1MT-CO2 CL E G H4513550ORPHA07421516040
HP:0001332HP:0007325Generalized dystonia1MT-CO2 CL E G H4513550ORPHA07421516040
HP:0001332HP:0032005Hemidystonia1MT-CO2 CL E G H4513550ORPHA07421516040
HP:0001332HP:0002451Limb dystonia1MT-CO2 CL E G H4513550ORPHA07421516040
HP:0001332HP:0010553Oculogyric crisis1MT-CO2 CL E G H4513550ORPHA07421516040
HP:0001332HP:0002268Paroxysmal dystonia1MT-CO2 CL E G H4513550ORPHA07421516040
HP:0001332HP:0001304Torsion dystonia1MT-CO2 CL E G H4513550ORPHA07421516040
HP:0001332HP:0002530Axial dystonia1MT-CO3 CL E G H4514550ORPHA07422516050
HP:0001332HP:0004373Focal dystonia1MT-CO3 CL E G H4514550ORPHA07422516050
HP:0001332HP:0007325Generalized dystonia1MT-CO3 CL E G H4514550ORPHA07422516050
HP:0001332HP:0032005Hemidystonia1MT-CO3 CL E G H4514550ORPHA07422516050
HP:0001332HP:0002451Limb dystonia1MT-CO3 CL E G H4514550ORPHA07422516050
HP:0001332HP:0010553Oculogyric crisis1MT-CO3 CL E G H4514550ORPHA07422516050
HP:0001332HP:0002268Paroxysmal dystonia1MT-CO3 CL E G H4514550ORPHA07422516050
HP:0001332HP:0001304Torsion dystonia1MT-CO3 CL E G H4514550ORPHA07422516050
HP:0001332HP:0002530Axial dystonia1MT-ND1 CL E G H4535550ORPHA07455516000
HP:0001332HP:0004373Focal dystonia1MT-ND1 CL E G H4535550ORPHA07455516000
HP:0001332HP:0007325Generalized dystonia1MT-ND1 CL E G H4535550ORPHA07455516000
HP:0001332HP:0032005Hemidystonia1MT-ND1 CL E G H4535550ORPHA07455516000
HP:0001332HP:0002451Limb dystonia1MT-ND1 CL E G H4535550ORPHA07455516000
HP:0001332HP:0010553Oculogyric crisis1MT-ND1 CL E G H4535550ORPHA07455516000
HP:0001332HP:0002268Paroxysmal dystonia1MT-ND1 CL E G H4535550ORPHA07455516000
HP:0001332HP:0001304Torsion dystonia1MT-ND1 CL E G H4535550ORPHA07455516000
HP:0001332HP:0002530Axial dystonia1MT-ND4 CL E G H4538550ORPHA07459516003
HP:0001332HP:0004373Focal dystonia1MT-ND4 CL E G H4538550ORPHA07459516003
HP:0001332HP:0007325Generalized dystonia1MT-ND4 CL E G H4538550ORPHA07459516003
HP:0001332HP:0032005Hemidystonia1MT-ND4 CL E G H4538550ORPHA07459516003
HP:0001332HP:0002451Limb dystonia1MT-ND4 CL E G H4538550ORPHA07459516003
HP:0001332HP:0010553Oculogyric crisis1MT-ND4 CL E G H4538550ORPHA07459516003
HP:0001332HP:0002268Paroxysmal dystonia1MT-ND4 CL E G H4538550ORPHA07459516003
HP:0001332HP:0001304Torsion dystonia1MT-ND4 CL E G H4538550ORPHA07459516003
HP:0001332HP:0002530Axial dystonia1MT-ND5 CL E G H4540550ORPHA07461516005
HP:0001332HP:0004373Focal dystonia1MT-ND5 CL E G H4540550ORPHA07461516005
HP:0001332HP:0007325Generalized dystonia1MT-ND5 CL E G H4540550ORPHA07461516005
HP:0001332HP:0032005Hemidystonia1MT-ND5 CL E G H4540550ORPHA07461516005
HP:0001332HP:0002451Limb dystonia1MT-ND5 CL E G H4540550ORPHA07461516005
HP:0001332HP:0010553Oculogyric crisis1MT-ND5 CL E G H4540550ORPHA07461516005
HP:0001332HP:0002268Paroxysmal dystonia1MT-ND5 CL E G H4540550ORPHA07461516005
HP:0001332HP:0001304Torsion dystonia1MT-ND5 CL E G H4540550ORPHA07461516005
HP:0001332HP:0002530Axial dystonia1MT-ND6 CL E G H4541550ORPHA07462516006
HP:0001332HP:0004373Focal dystonia1MT-ND6 CL E G H4541550ORPHA07462516006
HP:0001332HP:0007325Generalized dystonia1MT-ND6 CL E G H4541550ORPHA07462516006
HP:0001332HP:0032005Hemidystonia1MT-ND6 CL E G H4541550ORPHA07462516006
HP:0001332HP:0002451Limb dystonia1MT-ND6 CL E G H4541550ORPHA07462516006
HP:0001332HP:0010553Oculogyric crisis1MT-ND6 CL E G H4541550ORPHA07462516006
HP:0001332HP:0002268Paroxysmal dystonia1MT-ND6 CL E G H4541550ORPHA07462516006
HP:0001332HP:0001304Torsion dystonia1MT-ND6 CL E G H4541550ORPHA07462516006
HP:0001332HP:0002530Axial dystonia1MT-TF CL E G H4558550ORPHA07481590070
HP:0001332HP:0004373Focal dystonia1MT-TF CL E G H4558550ORPHA07481590070
HP:0001332HP:0007325Generalized dystonia1MT-TF CL E G H4558550ORPHA07481590070
HP:0001332HP:0032005Hemidystonia1MT-TF CL E G H4558550ORPHA07481590070
HP:0001332HP:0002451Limb dystonia1MT-TF CL E G H4558550ORPHA07481590070
HP:0001332HP:0010553Oculogyric crisis1MT-TF CL E G H4558550ORPHA07481590070
HP:0001332HP:0002268Paroxysmal dystonia1MT-TF CL E G H4558550ORPHA07481590070
HP:0001332HP:0001304Torsion dystonia1MT-TF CL E G H4558550ORPHA07481590070
HP:0001332HP:0002530Axial dystonia1MT-TH CL E G H4564550ORPHA07487590040
HP:0001332HP:0004373Focal dystonia1MT-TH CL E G H4564550ORPHA07487590040
HP:0001332HP:0007325Generalized dystonia1MT-TH CL E G H4564550ORPHA07487590040
HP:0001332HP:0032005Hemidystonia1MT-TH CL E G H4564550ORPHA07487590040
HP:0001332HP:0002451Limb dystonia1MT-TH CL E G H4564550ORPHA07487590040
HP:0001332HP:0010553Oculogyric crisis1MT-TH CL E G H4564550ORPHA07487590040
HP:0001332HP:0002268Paroxysmal dystonia1MT-TH CL E G H4564550ORPHA07487590040
HP:0001332HP:0001304Torsion dystonia1MT-TH CL E G H4564550ORPHA07487590040
HP:0001332HP:0002530Axial dystonia1MT-TL1 CL E G H4567550ORPHA07490590050
HP:0001332HP:0004373Focal dystonia1MT-TL1 CL E G H4567550ORPHA07490590050
HP:0001332HP:0007325Generalized dystonia1MT-TL1 CL E G H4567550ORPHA07490590050
HP:0001332HP:0032005Hemidystonia1MT-TL1 CL E G H4567550ORPHA07490590050
HP:0001332HP:0002451Limb dystonia1MT-TL1 CL E G H4567550ORPHA07490590050
HP:0001332HP:0010553Oculogyric crisis1MT-TL1 CL E G H4567550ORPHA07490590050
HP:0001332HP:0002268Paroxysmal dystonia1MT-TL1 CL E G H4567550ORPHA07490590050
HP:0001332HP:0001304Torsion dystonia1MT-TL1 CL E G H4567550ORPHA07490590050
HP:0001332HP:0002530Axial dystonia1MT-TQ CL E G H4572550ORPHA07495590030
HP:0001332HP:0004373Focal dystonia1MT-TQ CL E G H4572550ORPHA07495590030
HP:0001332HP:0007325Generalized dystonia1MT-TQ CL E G H4572550ORPHA07495590030
HP:0001332HP:0032005Hemidystonia1MT-TQ CL E G H4572550ORPHA07495590030
HP:0001332HP:0002451Limb dystonia1MT-TQ CL E G H4572550ORPHA07495590030
HP:0001332HP:0010553Oculogyric crisis1MT-TQ CL E G H4572550ORPHA07495590030
HP:0001332HP:0002268Paroxysmal dystonia1MT-TQ CL E G H4572550ORPHA07495590030
HP:0001332HP:0001304Torsion dystonia1MT-TQ CL E G H4572550ORPHA07495590030
HP:0001332HP:0002530Axial dystonia1MT-TS1 CL E G H4574550ORPHA07497590080
HP:0001332HP:0004373Focal dystonia1MT-TS1 CL E G H4574550ORPHA07497590080
HP:0001332HP:0007325Generalized dystonia1MT-TS1 CL E G H4574550ORPHA07497590080
HP:0001332HP:0032005Hemidystonia1MT-TS1 CL E G H4574550ORPHA07497590080
HP:0001332HP:0002451Limb dystonia1MT-TS1 CL E G H4574550ORPHA07497590080
HP:0001332HP:0010553Oculogyric crisis1MT-TS1 CL E G H4574550ORPHA07497590080
HP:0001332HP:0002268Paroxysmal dystonia1MT-TS1 CL E G H4574550ORPHA07497590080
HP:0001332HP:0001304Torsion dystonia1MT-TS1 CL E G H4574550ORPHA07497590080
HP:0001332HP:0002530Axial dystonia1MT-TS2 CL E G H4575550ORPHA07498590085
HP:0001332HP:0004373Focal dystonia1MT-TS2 CL E G H4575550ORPHA07498590085
HP:0001332HP:0007325Generalized dystonia1MT-TS2 CL E G H4575550ORPHA07498590085
HP:0001332HP:0032005Hemidystonia1MT-TS2 CL E G H4575550ORPHA07498590085
HP:0001332HP:0002451Limb dystonia1MT-TS2 CL E G H4575550ORPHA07498590085
HP:0001332HP:0010553Oculogyric crisis1MT-TS2 CL E G H4575550ORPHA07498590085
HP:0001332HP:0002268Paroxysmal dystonia1MT-TS2 CL E G H4575550ORPHA07498590085
HP:0001332HP:0001304Torsion dystonia1MT-TS2 CL E G H4575550ORPHA07498590085
HP:0001332HP:0002530Axial dystonia1MT-TW CL E G H4578550ORPHA07501590095
HP:0001332HP:0004373Focal dystonia1MT-TW CL E G H4578550ORPHA07501590095
HP:0001332HP:0007325Generalized dystonia1MT-TW CL E G H4578550ORPHA07501590095
HP:0001332HP:0032005Hemidystonia1MT-TW CL E G H4578550ORPHA07501590095
HP:0001332HP:0002451Limb dystonia1MT-TW CL E G H4578550ORPHA07501590095
HP:0001332HP:0010553Oculogyric crisis1MT-TW CL E G H4578550ORPHA07501590095
HP:0001332HP:0002268Paroxysmal dystonia1MT-TW CL E G H4578550ORPHA07501590095
HP:0001332HP:0001304Torsion dystonia1MT-TW CL E G H4578550ORPHA07501590095
HP:0001332HP:0002530Axial dystonia1MTO1 CL E G H25821614702Combined oxidative phosphorylation deficiency 10614702C3553529OMIM063819261614667
HP:0001332HP:0004373Focal dystonia1MTO1 CL E G H25821614702Combined oxidative phosphorylation deficiency 10614702C3553529OMIM063819261614667
HP:0001332HP:0007325Generalized dystonia1MTO1 CL E G H25821614702Combined oxidative phosphorylation deficiency 10614702C3553529OMIM063819261614667
HP:0001332HP:0032005Hemidystonia1MTO1 CL E G H25821614702Combined oxidative phosphorylation deficiency 10614702C3553529OMIM063819261614667
HP:0001332HP:0002451Limb dystonia1MTO1 CL E G H25821614702Combined oxidative phosphorylation deficiency 10614702C3553529OMIM063819261614667
HP:0001332HP:0010553Oculogyric crisis1MTO1 CL E G H25821614702Combined oxidative phosphorylation deficiency 10614702C3553529OMIM063819261614667
HP:0001332HP:0002268Paroxysmal dystonia1MTO1 CL E G H25821614702Combined oxidative phosphorylation deficiency 10614702C3553529OMIM063819261614667
HP:0001332HP:0001304Torsion dystonia1MTO1 CL E G H25821614702Combined oxidative phosphorylation deficiency 10614702C3553529OMIM063819261614667
HP:0001332HP:0002530Axial dystonia1OFD1 CL E G H84812750ORPHA010202567300170
HP:0001332HP:0004373Focal dystonia1OFD1 CL E G H84812750ORPHA010202567300170
HP:0001332HP:0007325Generalized dystonia1OFD1 CL E G H84812750ORPHA010202567300170
HP:0001332HP:0032005Hemidystonia1OFD1 CL E G H84812750ORPHA010202567300170
HP:0001332HP:0002451Limb dystonia1OFD1 CL E G H84812750ORPHA010202567300170
HP:0001332HP:0010553Oculogyric crisis1OFD1 CL E G H84812750ORPHA010202567300170
HP:0001332HP:0002268Paroxysmal dystonia1OFD1 CL E G H84812750ORPHA010202567300170
HP:0001332HP:0001304Torsion dystonia1OFD1 CL E G H84812750ORPHA010202567300170
HP:0001332HP:0002530Axial dystonia1PIK3R5 CL E G H2353364753ORPHA09030035611317
HP:0001332HP:0004373Focal dystonia1PIK3R5 CL E G H2353364753ORPHA09030035611317
HP:0001332HP:0007325Generalized dystonia1PIK3R5 CL E G H2353364753ORPHA09030035611317
HP:0001332HP:0032005Hemidystonia1PIK3R5 CL E G H2353364753ORPHA09030035611317
HP:0001332HP:0002451Limb dystonia1PIK3R5 CL E G H2353364753ORPHA09030035611317
HP:0001332HP:0010553Oculogyric crisis1PIK3R5 CL E G H2353364753ORPHA09030035611317
HP:0001332HP:0002268Paroxysmal dystonia1PIK3R5 CL E G H2353364753ORPHA09030035611317
HP:0001332HP:0001304Torsion dystonia1PIK3R5 CL E G H2353364753ORPHA09030035611317
HP:0001332HP:0002530Axial dystonia1PLEKHG2 CL E G H64857616763Leukodystrophy and acquired microcephaly with or without dystonia616763C4225213OMIM040829515611893
HP:0001332HP:0004373Focal dystonia1PLEKHG2 CL E G H64857616763Leukodystrophy and acquired microcephaly with or without dystonia616763C4225213OMIM040829515611893
HP:0001332HP:0007325Generalized dystonia1PLEKHG2 CL E G H64857616763Leukodystrophy and acquired microcephaly with or without dystonia616763C4225213OMIM040829515611893
HP:0001332HP:0032005Hemidystonia1PLEKHG2 CL E G H64857616763Leukodystrophy and acquired microcephaly with or without dystonia616763C4225213OMIM040829515611893
HP:0001332HP:0002451Limb dystonia1PLEKHG2 CL E G H64857616763Leukodystrophy and acquired microcephaly with or without dystonia616763C4225213OMIM040829515611893
HP:0001332HP:0010553Oculogyric crisis1PLEKHG2 CL E G H64857616763Leukodystrophy and acquired microcephaly with or without dystonia616763C4225213OMIM040829515611893
HP:0001332HP:0002268Paroxysmal dystonia1PLEKHG2 CL E G H64857616763Leukodystrophy and acquired microcephaly with or without dystonia616763C4225213OMIM040829515611893
HP:0001332HP:0001304Torsion dystonia1PLEKHG2 CL E G H64857616763Leukodystrophy and acquired microcephaly with or without dystonia616763C4225213OMIM040829515611893
HP:0001332HP:0002530Axial dystonia1RNASEH2B CL E G H79621610181Aicardi Goutieres syndrome 2610181C3489724OMIM042625671610326
HP:0001332HP:0004373Focal dystonia1RNASEH2B CL E G H79621610181Aicardi Goutieres syndrome 2610181C3489724OMIM042625671610326
HP:0001332HP:0007325Generalized dystonia1RNASEH2B CL E G H79621610181Aicardi Goutieres syndrome 2610181C3489724OMIM042625671610326
HP:0001332HP:0032005Hemidystonia1RNASEH2B CL E G H79621610181Aicardi Goutieres syndrome 2610181C3489724OMIM042625671610326
HP:0001332HP:0002451Limb dystonia1RNASEH2B CL E G H79621610181Aicardi Goutieres syndrome 2610181C3489724OMIM042625671610326
HP:0001332HP:0010553Oculogyric crisis1RNASEH2B CL E G H79621610181Aicardi Goutieres syndrome 2610181C3489724OMIM042625671610326
HP:0001332HP:0002268Paroxysmal dystonia1RNASEH2B CL E G H79621610181Aicardi Goutieres syndrome 2610181C3489724OMIM042625671610326
HP:0001332HP:0001304Torsion dystonia1RNASEH2B CL E G H79621610181Aicardi Goutieres syndrome 2610181C3489724OMIM042625671610326
HP:0001332HP:0002530Axial dystonia1RNASET2 CL E G H8635612951Leukoencephalopathy, cystic, without megalencephaly612951C2751843OMIM019921686612944
HP:0001332HP:0004373Focal dystonia1RNASET2 CL E G H8635612951Leukoencephalopathy, cystic, without megalencephaly612951C2751843OMIM019921686612944
HP:0001332HP:0007325Generalized dystonia1RNASET2 CL E G H8635612951Leukoencephalopathy, cystic, without megalencephaly612951C2751843OMIM019921686612944
HP:0001332HP:0032005Hemidystonia1RNASET2 CL E G H8635612951Leukoencephalopathy, cystic, without megalencephaly612951C2751843OMIM019921686612944
HP:0001332HP:0002451Limb dystonia1RNASET2 CL E G H8635612951Leukoencephalopathy, cystic, without megalencephaly612951C2751843OMIM019921686612944
HP:0001332HP:0010553Oculogyric crisis1RNASET2 CL E G H8635612951Leukoencephalopathy, cystic, without megalencephaly612951C2751843OMIM019921686612944
HP:0001332HP:0002268Paroxysmal dystonia1RNASET2 CL E G H8635612951Leukoencephalopathy, cystic, without megalencephaly612951C2751843OMIM019921686612944
HP:0001332HP:0001304Torsion dystonia1RNASET2 CL E G H8635612951Leukoencephalopathy, cystic, without megalencephaly612951C2751843OMIM019921686612944
HP:0001332HP:0002530Axial dystonia1SETX CL E G H2306464753ORPHA01556445608465
HP:0001332HP:0004373Focal dystonia1SETX CL E G H2306464753ORPHA01556445608465
HP:0001332HP:0007325Generalized dystonia1SETX CL E G H2306464753ORPHA01556445608465
HP:0001332HP:0032005Hemidystonia1SETX CL E G H2306464753ORPHA01556445608465
HP:0001332HP:0002451Limb dystonia1SETX CL E G H2306464753ORPHA01556445608465
HP:0001332HP:0010553Oculogyric crisis1SETX CL E G H2306464753ORPHA01556445608465
HP:0001332HP:0002268Paroxysmal dystonia1SETX CL E G H2306464753ORPHA01556445608465
HP:0001332HP:0001304Torsion dystonia1SETX CL E G H2306464753ORPHA01556445608465
HP:0001332HP:0002530Axial dystonia1SETX CL E G H23064606002Spinocerebellar ataxia autosomal recessive 1606002C1853761OMIM01556445608465
HP:0001332HP:0004373Focal dystonia1SETX CL E G H23064606002Spinocerebellar ataxia autosomal recessive 1606002C1853761OMIM01556445608465
HP:0001332HP:0007325Generalized dystonia1SETX CL E G H23064606002Spinocerebellar ataxia autosomal recessive 1606002C1853761OMIM01556445608465
HP:0001332HP:0032005Hemidystonia1SETX CL E G H23064606002Spinocerebellar ataxia autosomal recessive 1606002C1853761OMIM01556445608465
HP:0001332HP:0002451Limb dystonia1SETX CL E G H23064606002Spinocerebellar ataxia autosomal recessive 1606002C1853761OMIM01556445608465
HP:0001332HP:0010553Oculogyric crisis1SETX CL E G H23064606002Spinocerebellar ataxia autosomal recessive 1606002C1853761OMIM01556445608465
HP:0001332HP:0002268Paroxysmal dystonia1SETX CL E G H23064606002Spinocerebellar ataxia autosomal recessive 1606002C1853761OMIM01556445608465
HP:0001332HP:0001304Torsion dystonia1SETX CL E G H23064606002Spinocerebellar ataxia autosomal recessive 1606002C1853761OMIM01556445608465
HP:0001332HP:0002530Axial dystonia1SNCA CL E G H6622411602ORPHA019311138163890
HP:0001332HP:0004373Focal dystonia1SNCA CL E G H6622411602ORPHA019311138163890
HP:0001332HP:0007325Generalized dystonia1SNCA CL E G H6622411602ORPHA019311138163890
HP:0001332HP:0032005Hemidystonia1SNCA CL E G H6622411602ORPHA019311138163890
HP:0001332HP:0002451Limb dystonia1SNCA CL E G H6622411602ORPHA019311138163890
HP:0001332HP:0010553Oculogyric crisis1SNCA CL E G H6622411602ORPHA019311138163890
HP:0001332HP:0002268Paroxysmal dystonia1SNCA CL E G H6622411602ORPHA019311138163890
HP:0001332HP:0001304Torsion dystonia1SNCA CL E G H6622411602ORPHA019311138163890
HP:0001332HP:0002530Axial dystonia1TAF1 CL E G H6872300966Mental retardation, X-linked, syndromic 33300966C4225418OMIM053411535313650
HP:0001332HP:0004373Focal dystonia1TAF1 CL E G H6872300966Mental retardation, X-linked, syndromic 33300966C4225418OMIM053411535313650
HP:0001332HP:0007325Generalized dystonia1TAF1 CL E G H6872300966Mental retardation, X-linked, syndromic 33300966C4225418OMIM053411535313650
HP:0001332HP:0032005Hemidystonia1TAF1 CL E G H6872300966Mental retardation, X-linked, syndromic 33300966C4225418OMIM053411535313650
HP:0001332HP:0002451Limb dystonia1TAF1 CL E G H6872300966Mental retardation, X-linked, syndromic 33300966C4225418OMIM053411535313650
HP:0001332HP:0010553Oculogyric crisis1TAF1 CL E G H6872300966Mental retardation, X-linked, syndromic 33300966C4225418OMIM053411535313650
HP:0001332HP:0002268Paroxysmal dystonia1TAF1 CL E G H6872300966Mental retardation, X-linked, syndromic 33300966C4225418OMIM053411535313650
HP:0001332HP:0001304Torsion dystonia1TAF1 CL E G H6872300966Mental retardation, X-linked, syndromic 33300966C4225418OMIM053411535313650
HP:0001332HP:0002530Axial dystonia1TANGO2 CL E G H128989616878TANGO2-Related Metabolic Encephalopathy and Arrhythmias616878C4225171OMIM071525439616830
HP:0001332HP:0004373Focal dystonia1TANGO2 CL E G H128989616878TANGO2-Related Metabolic Encephalopathy and Arrhythmias616878C4225171OMIM071525439616830
HP:0001332HP:0007325Generalized dystonia1TANGO2 CL E G H128989616878TANGO2-Related Metabolic Encephalopathy and Arrhythmias616878C4225171OMIM071525439616830
HP:0001332HP:0032005Hemidystonia1TANGO2 CL E G H128989616878TANGO2-Related Metabolic Encephalopathy and Arrhythmias616878C4225171OMIM071525439616830
HP:0001332HP:0002451Limb dystonia1TANGO2 CL E G H128989616878TANGO2-Related Metabolic Encephalopathy and Arrhythmias616878C4225171OMIM071525439616830
HP:0001332HP:0010553Oculogyric crisis1TANGO2 CL E G H128989616878TANGO2-Related Metabolic Encephalopathy and Arrhythmias616878C4225171OMIM071525439616830
HP:0001332HP:0002268Paroxysmal dystonia1TANGO2 CL E G H128989616878TANGO2-Related Metabolic Encephalopathy and Arrhythmias616878C4225171OMIM071525439616830
HP:0001332HP:0001304Torsion dystonia1TANGO2 CL E G H128989616878TANGO2-Related Metabolic Encephalopathy and Arrhythmias616878C4225171OMIM071525439616830
HP:0001332HP:0002530Axial dystonia1TTBK2 CL E G H14605798767ORPHA033819141611695
HP:0001332HP:0004373Focal dystonia1TTBK2 CL E G H14605798767ORPHA033819141611695
HP:0001332HP:0007325Generalized dystonia1TTBK2 CL E G H14605798767ORPHA033819141611695
HP:0001332HP:0032005Hemidystonia1TTBK2 CL E G H14605798767ORPHA033819141611695
HP:0001332HP:0002451Limb dystonia1TTBK2 CL E G H14605798767ORPHA033819141611695
HP:0001332HP:0010553Oculogyric crisis1TTBK2 CL E G H14605798767ORPHA033819141611695
HP:0001332HP:0002268Paroxysmal dystonia1TTBK2 CL E G H14605798767ORPHA033819141611695
HP:0001332HP:0001304Torsion dystonia1TTBK2 CL E G H14605798767ORPHA033819141611695
HP:0001332HP:0002530Axial dystonia1TTPA CL E G H727496ORPHA038912404600415
HP:0001332HP:0004373Focal dystonia1TTPA CL E G H727496ORPHA038912404600415
HP:0001332HP:0007325Generalized dystonia1TTPA CL E G H727496ORPHA038912404600415
HP:0001332HP:0032005Hemidystonia1TTPA CL E G H727496ORPHA038912404600415
HP:0001332HP:0002451Limb dystonia1TTPA CL E G H727496ORPHA038912404600415
HP:0001332HP:0010553Oculogyric crisis1TTPA CL E G H727496ORPHA038912404600415
HP:0001332HP:0002268Paroxysmal dystonia1TTPA CL E G H727496ORPHA038912404600415
HP:0001332HP:0001304Torsion dystonia1TTPA CL E G H727496ORPHA038912404600415
HP:0001332HP:0002530Axial dystonia1VAMP1 CL E G H6843251282ORPHA014112642185880
HP:0001332HP:0004373Focal dystonia1VAMP1 CL E G H6843251282ORPHA014112642185880
HP:0001332HP:0007325Generalized dystonia1VAMP1 CL E G H6843251282ORPHA014112642185880
HP:0001332HP:0032005Hemidystonia1VAMP1 CL E G H6843251282ORPHA014112642185880
HP:0001332HP:0002451Limb dystonia1VAMP1 CL E G H6843251282ORPHA014112642185880
HP:0001332HP:0010553Oculogyric crisis1VAMP1 CL E G H6843251282ORPHA014112642185880
HP:0001332HP:0002268Paroxysmal dystonia1VAMP1 CL E G H6843251282ORPHA014112642185880
HP:0001332HP:0001304Torsion dystonia1VAMP1 CL E G H6843251282ORPHA014112642185880
HP:0001332HP:0002530Axial dystonia1VPS35 CL E G H55737411602ORPHA022813487601501
HP:0001332HP:0004373Focal dystonia1VPS35 CL E G H55737411602ORPHA022813487601501
HP:0001332HP:0007325Generalized dystonia1VPS35 CL E G H55737411602ORPHA022813487601501
HP:0001332HP:0032005Hemidystonia1VPS35 CL E G H55737411602ORPHA022813487601501
HP:0001332HP:0002451Limb dystonia1VPS35 CL E G H55737411602ORPHA022813487601501
HP:0001332HP:0010553Oculogyric crisis1VPS35 CL E G H55737411602ORPHA022813487601501
HP:0001332HP:0002268Paroxysmal dystonia1VPS35 CL E G H55737411602ORPHA022813487601501
HP:0001332HP:0001304Torsion dystonia1VPS35 CL E G H55737411602ORPHA022813487601501
HP:0001332HP:0002530Axial dystonia1VPS37A CL E G H137492614898Spastic paraplegia 53, autosomal recessive614898C3539494OMIM025924928609927
HP:0001332HP:0004373Focal dystonia1VPS37A CL E G H137492614898Spastic paraplegia 53, autosomal recessive614898C3539494OMIM025924928609927
HP:0001332HP:0007325Generalized dystonia1VPS37A CL E G H137492614898Spastic paraplegia 53, autosomal recessive614898C3539494OMIM025924928609927
HP:0001332HP:0032005Hemidystonia1VPS37A CL E G H137492614898Spastic paraplegia 53, autosomal recessive614898C3539494OMIM025924928609927
HP:0001332HP:0002451Limb dystonia1VPS37A CL E G H137492614898Spastic paraplegia 53, autosomal recessive614898C3539494OMIM025924928609927
HP:0001332HP:0010553Oculogyric crisis1VPS37A CL E G H137492614898Spastic paraplegia 53, autosomal recessive614898C3539494OMIM025924928609927
HP:0001332HP:0002268Paroxysmal dystonia1VPS37A CL E G H137492614898Spastic paraplegia 53, autosomal recessive614898C3539494OMIM025924928609927
HP:0001332HP:0001304Torsion dystonia1VPS37A CL E G H137492614898Spastic paraplegia 53, autosomal recessive614898C3539494OMIM025924928609927
HP:0001332HP:0002530Axial dystonia1WDR73 CL E G H84942251300Galloway-Mowat syndrome 1251300CN031715OMIM022025928616144
HP:0001332HP:0004373Focal dystonia1WDR73 CL E G H84942251300Galloway-Mowat syndrome 1251300CN031715OMIM022025928616144
HP:0001332HP:0007325Generalized dystonia1WDR73 CL E G H84942251300Galloway-Mowat syndrome 1251300CN031715OMIM022025928616144
HP:0001332HP:0032005Hemidystonia1WDR73 CL E G H84942251300Galloway-Mowat syndrome 1251300CN031715OMIM022025928616144
HP:0001332HP:0002451Limb dystonia1WDR73 CL E G H84942251300Galloway-Mowat syndrome 1251300CN031715OMIM022025928616144
HP:0001332HP:0010553Oculogyric crisis1WDR73 CL E G H84942251300Galloway-Mowat syndrome 1251300CN031715OMIM022025928616144
HP:0001332HP:0002268Paroxysmal dystonia1WDR73 CL E G H84942251300Galloway-Mowat syndrome 1251300CN031715OMIM022025928616144
HP:0001332HP:0001304Torsion dystonia1WDR73 CL E G H84942251300Galloway-Mowat syndrome 1251300CN031715OMIM022025928616144
HP:0001332HP:0012049Laryngeal dystonia2AFG3L2 CL E G H10939610246Spinocerebellar ataxia 28610246C1853249OMIM0480315604581
HP:0001332HP:0012179Craniofacial dystonia2AFG3L2 CL E G H10939610246Spinocerebellar ataxia 28610246C1853249OMIM0480315604581
HP:0001332HP:0002356Writer's cramp2AFG3L2 CL E G H10939610246Spinocerebellar ataxia 28610246C1853249OMIM0480315604581
HP:0001332HP:0031960Arm dystonia2AFG3L2 CL E G H10939610246Spinocerebellar ataxia 28610246C1853249OMIM0480315604581
HP:0001332HP:0031959Leg dystonia2AFG3L2 CL E G H10939610246Spinocerebellar ataxia 28610246C1853249OMIM0480315604581
HP:0001332HP:0012049Laryngeal dystonia2AGTPBP1 CL E G H23287618276618276618276OMIM010517258606830
HP:0001332HP:0012179Craniofacial dystonia2AGTPBP1 CL E G H23287618276618276618276OMIM010517258606830
HP:0001332HP:0002356Writer's cramp2AGTPBP1 CL E G H23287618276618276618276OMIM010517258606830
HP:0001332HP:0031960Arm dystonia2AGTPBP1 CL E G H23287618276618276618276OMIM010517258606830
HP:0001332HP:0031959Leg dystonia2AGTPBP1 CL E G H23287618276618276618276OMIM010517258606830
HP:0001332HP:0012049Laryngeal dystonia2ALS2 CL E G H57679205100Amyotrophic lateral sclerosis type 2205100C1859807OMIM0947443606352
HP:0001332HP:0012179Craniofacial dystonia2ALS2 CL E G H57679205100Amyotrophic lateral sclerosis type 2205100C1859807OMIM0947443606352
HP:0001332HP:0002356Writer's cramp2ALS2 CL E G H57679205100Amyotrophic lateral sclerosis type 2205100C1859807OMIM0947443606352
HP:0001332HP:0031960Arm dystonia2ALS2 CL E G H57679205100Amyotrophic lateral sclerosis type 2205100C1859807OMIM0947443606352
HP:0001332HP:0031959Leg dystonia2ALS2 CL E G H57679205100Amyotrophic lateral sclerosis type 2205100C1859807OMIM0947443606352
HP:0001332HP:0012049Laryngeal dystonia2ATP1A3 CL E G H4781171ORPHA0993801182350
HP:0001332HP:0012179Craniofacial dystonia2ATP1A3 CL E G H4781171ORPHA0993801182350
HP:0001332HP:0002356Writer's cramp2ATP1A3 CL E G H4781171ORPHA0993801182350
HP:0001332HP:0031960Arm dystonia2ATP1A3 CL E G H4781171ORPHA0993801182350
HP:0001332HP:0031959Leg dystonia2ATP1A3 CL E G H4781171ORPHA0993801182350
HP:0001332HP:0012049Laryngeal dystonia2ATXN3 CL E G H4287109150Azorean disease109150C0024408OMIM0657106607047
HP:0001332HP:0012179Craniofacial dystonia2ATXN3 CL E G H4287109150Azorean disease109150C0024408OMIM0657106607047
HP:0001332HP:0002356Writer's cramp2ATXN3 CL E G H4287109150Azorean disease109150C0024408OMIM0657106607047
HP:0001332HP:0031960Arm dystonia2ATXN3 CL E G H4287109150Azorean disease109150C0024408OMIM0657106607047
HP:0001332HP:0031959Leg dystonia2ATXN3 CL E G H4287109150Azorean disease109150C0024408OMIM0657106607047
HP:0001332HP:0012049Laryngeal dystonia2AUH CL E G H54967046ORPHA0249890600529
HP:0001332HP:0012179Craniofacial dystonia2AUH CL E G H54967046ORPHA0249890600529
HP:0001332HP:0002356Writer's cramp2AUH CL E G H54967046ORPHA0249890600529
HP:0001332HP:0031960Arm dystonia2AUH CL E G H54967046ORPHA0249890600529
HP:0001332HP:0031959Leg dystonia2AUH CL E G H54967046ORPHA0249890600529
HP:0001332HP:0012049Laryngeal dystonia2B4GALNT1 CL E G H2583101006ORPHA02954117601873
HP:0001332HP:0012179Craniofacial dystonia2B4GALNT1 CL E G H2583101006ORPHA02954117601873
HP:0001332HP:0002356Writer's cramp2B4GALNT1 CL E G H2583101006ORPHA02954117601873
HP:0001332HP:0031960Arm dystonia2B4GALNT1 CL E G H2583101006ORPHA02954117601873
HP:0001332HP:0031959Leg dystonia2B4GALNT1 CL E G H2583101006ORPHA02954117601873
HP:0001332HP:0012049Laryngeal dystonia2C9orf72 CL E G H203228401901ORPHA017728337614260
HP:0001332HP:0012179Craniofacial dystonia2C9orf72 CL E G H203228401901ORPHA017728337614260
HP:0001332HP:0002356Writer's cramp2C9orf72 CL E G H203228401901ORPHA017728337614260
HP:0001332HP:0031960Arm dystonia2C9orf72 CL E G H203228401901ORPHA017728337614260
HP:0001332HP:0031959Leg dystonia2C9orf72 CL E G H203228401901ORPHA017728337614260
HP:0001332HP:0012049Laryngeal dystonia2COQ8A CL E G H56997139485ORPHA069916812606980
HP:0001332HP:0012179Craniofacial dystonia2COQ8A CL E G H56997139485ORPHA069916812606980
HP:0001332HP:0002356Writer's cramp2COQ8A CL E G H56997139485ORPHA069916812606980
HP:0001332HP:0031960Arm dystonia2COQ8A CL E G H56997139485ORPHA069916812606980
HP:0001332HP:0031959Leg dystonia2COQ8A CL E G H56997139485ORPHA069916812606980
HP:0001332HP:0012049Laryngeal dystonia2CYP2U1 CL E G H113612320411ORPHA029120582610670
HP:0001332HP:0012179Craniofacial dystonia2CYP2U1 CL E G H113612320411ORPHA029120582610670
HP:0001332HP:0002356Writer's cramp2CYP2U1 CL E G H113612320411ORPHA029120582610670
HP:0001332HP:0031960Arm dystonia2CYP2U1 CL E G H113612320411ORPHA029120582610670
HP:0001332HP:0031959Leg dystonia2CYP2U1 CL E G H113612320411ORPHA029120582610670
HP:0001332HP:0012049Laryngeal dystonia2DNAJC13 CL E G H23317411602ORPHA023730343614334
HP:0001332HP:0012179Craniofacial dystonia2DNAJC13 CL E G H23317411602ORPHA023730343614334
HP:0001332HP:0002356Writer's cramp2DNAJC13 CL E G H23317411602ORPHA023730343614334
HP:0001332HP:0031960Arm dystonia2DNAJC13 CL E G H23317411602ORPHA023730343614334
HP:0001332HP:0031959Leg dystonia2DNAJC13 CL E G H23317411602ORPHA023730343614334
HP:0001332HP:0012049Laryngeal dystonia2DNAJC19 CL E G H13111866634ORPHA014230528608977
HP:0001332HP:0012179Craniofacial dystonia2DNAJC19 CL E G H13111866634ORPHA014230528608977
HP:0001332HP:0002356Writer's cramp2DNAJC19 CL E G H13111866634ORPHA014230528608977
HP:0001332HP:0031960Arm dystonia2DNAJC19 CL E G H13111866634ORPHA014230528608977
HP:0001332HP:0031959Leg dystonia2DNAJC19 CL E G H13111866634ORPHA014230528608977
HP:0001332HP:0012049Laryngeal dystonia2DNAJC6 CL E G H9829615528Parkinson disease 19a, juvenile-onset615528C3809811OMIM031015469608375
HP:0001332HP:0012179Craniofacial dystonia2DNAJC6 CL E G H9829615528Parkinson disease 19a, juvenile-onset615528C3809811OMIM031015469608375
HP:0001332HP:0002356Writer's cramp2DNAJC6 CL E G H9829615528Parkinson disease 19a, juvenile-onset615528C3809811OMIM031015469608375
HP:0001332HP:0031960Arm dystonia2DNAJC6 CL E G H9829615528Parkinson disease 19a, juvenile-onset615528C3809811OMIM031015469608375
HP:0001332HP:0031959Leg dystonia2DNAJC6 CL E G H9829615528Parkinson disease 19a, juvenile-onset615528C3809811OMIM031015469608375
HP:0001332HP:0012049Laryngeal dystonia2EIF4G1 CL E G H1981411602ORPHA01473296600495
HP:0001332HP:0012179Craniofacial dystonia2EIF4G1 CL E G H1981411602ORPHA01473296600495
HP:0001332HP:0002356Writer's cramp2EIF4G1 CL E G H1981411602ORPHA01473296600495
HP:0001332HP:0031960Arm dystonia2EIF4G1 CL E G H1981411602ORPHA01473296600495
HP:0001332HP:0031959Leg dystonia2EIF4G1 CL E G H1981411602ORPHA01473296600495
HP:0001332HP:0012049Laryngeal dystonia2EMC1 CL E G H23065616875Cerebellar atrophy, visual impairment, and psychomotor retardation616875C4225172OMIM093828957616846
HP:0001332HP:0012179Craniofacial dystonia2EMC1 CL E G H23065616875Cerebellar atrophy, visual impairment, and psychomotor retardation616875C4225172OMIM093828957616846
HP:0001332HP:0002356Writer's cramp2EMC1 CL E G H23065616875Cerebellar atrophy, visual impairment, and psychomotor retardation616875C4225172OMIM093828957616846
HP:0001332HP:0031960Arm dystonia2EMC1 CL E G H23065616875Cerebellar atrophy, visual impairment, and psychomotor retardation616875C4225172OMIM093828957616846
HP:0001332HP:0031959Leg dystonia2EMC1 CL E G H23065616875Cerebellar atrophy, visual impairment, and psychomotor retardation616875C4225172OMIM093828957616846
HP:0001332HP:0012049Laryngeal dystonia2FBXL4 CL E G H26235615471Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)615471C3809592OMIM056613601605654
HP:0001332HP:0012179Craniofacial dystonia2FBXL4 CL E G H26235615471Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)615471C3809592OMIM056613601605654
HP:0001332HP:0002356Writer's cramp2FBXL4 CL E G H26235615471Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)615471C3809592OMIM056613601605654
HP:0001332HP:0031960Arm dystonia2FBXL4 CL E G H26235615471Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)615471C3809592OMIM056613601605654
HP:0001332HP:0031959Leg dystonia2FBXL4 CL E G H26235615471Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)615471C3809592OMIM056613601605654
HP:0001332HP:0012049Laryngeal dystonia2FXN CL E G H239595ORPHA01583951606829
HP:0001332HP:0012179Craniofacial dystonia2FXN CL E G H239595ORPHA01583951606829
HP:0001332HP:0002356Writer's cramp2FXN CL E G H239595ORPHA01583951606829
HP:0001332HP:0031960Arm dystonia2FXN CL E G H239595ORPHA01583951606829
HP:0001332HP:0031959Leg dystonia2FXN CL E G H239595ORPHA01583951606829
HP:0001332HP:0012049Laryngeal dystonia2GBA CL E G H2629411602ORPHA04177606463
HP:0001332HP:0012179Craniofacial dystonia2GBA CL E G H2629411602ORPHA04177606463
HP:0001332HP:0002356Writer's cramp2GBA CL E G H2629411602ORPHA04177606463
HP:0001332HP:0031960Arm dystonia2GBA CL E G H2629411602ORPHA04177606463
HP:0001332HP:0031959Leg dystonia2GBA CL E G H2629411602ORPHA04177606463
HP:0001332HP:0012049Laryngeal dystonia2GIGYF2 CL E G H26058411602ORPHA033811960612003
HP:0001332HP:0012179Craniofacial dystonia2GIGYF2 CL E G H26058411602ORPHA033811960612003
HP:0001332HP:0002356Writer's cramp2GIGYF2 CL E G H26058411602ORPHA033811960612003
HP:0001332HP:0031960Arm dystonia2GIGYF2 CL E G H26058411602ORPHA033811960612003
HP:0001332HP:0031959Leg dystonia2GIGYF2 CL E G H26058411602ORPHA033811960612003
HP:0001332HP:0012049Laryngeal dystonia2GNAO1 CL E G H2775615473Early infantile epileptic encephalopathy 17615473C3809606OMIM04294389139311
HP:0001332HP:0012179Craniofacial dystonia2GNAO1 CL E G H2775615473Early infantile epileptic encephalopathy 17615473C3809606OMIM04294389139311
HP:0001332HP:0002356Writer's cramp2GNAO1 CL E G H2775615473Early infantile epileptic encephalopathy 17615473C3809606OMIM04294389139311
HP:0001332HP:0031960Arm dystonia2GNAO1 CL E G H2775615473Early infantile epileptic encephalopathy 17615473C3809606OMIM04294389139311
HP:0001332HP:0031959Leg dystonia2GNAO1 CL E G H2775615473Early infantile epileptic encephalopathy 17615473C3809606OMIM04294389139311
HP:0001332HP:0012049Laryngeal dystonia2GRIK2 CL E G H2898611092Mental retardation, autosomal recessive 6611092C1970198OMIM01894580138244
HP:0001332HP:0012179Craniofacial dystonia2GRIK2 CL E G H2898611092Mental retardation, autosomal recessive 6611092C1970198OMIM01894580138244
HP:0001332HP:0002356Writer's cramp2GRIK2 CL E G H2898611092Mental retardation, autosomal recessive 6611092C1970198OMIM01894580138244
HP:0001332HP:0031960Arm dystonia2GRIK2 CL E G H2898611092Mental retardation, autosomal recessive 6611092C1970198OMIM01894580138244
HP:0001332HP:0031959Leg dystonia2GRIK2 CL E G H2898611092Mental retardation, autosomal recessive 6611092C1970198OMIM01894580138244
HP:0001332HP:0012049Laryngeal dystonia2HACE1 CL E G H57531616756Spastic paraplegia and psychomotor retardation with or without seizures616756C4225215OMIM022721033610876
HP:0001332HP:0012179Craniofacial dystonia2HACE1 CL E G H57531616756Spastic paraplegia and psychomotor retardation with or without seizures616756C4225215OMIM022721033610876
HP:0001332HP:0002356Writer's cramp2HACE1 CL E G H57531616756Spastic paraplegia and psychomotor retardation with or without seizures616756C4225215OMIM022721033610876
HP:0001332HP:0031960Arm dystonia2HACE1 CL E G H57531616756Spastic paraplegia and psychomotor retardation with or without seizures616756C4225215OMIM022721033610876
HP:0001332HP:0031959Leg dystonia2HACE1 CL E G H57531616756Spastic paraplegia and psychomotor retardation with or without seizures616756C4225215OMIM022721033610876
HP:0001332HP:0012049Laryngeal dystonia2JPH3 CL E G H5733898934ORPHA017614203605268
HP:0001332HP:0012179Craniofacial dystonia2JPH3 CL E G H5733898934ORPHA017614203605268
HP:0001332HP:0002356Writer's cramp2JPH3 CL E G H5733898934ORPHA017614203605268
HP:0001332HP:0031960Arm dystonia2JPH3 CL E G H5733898934ORPHA017614203605268
HP:0001332HP:0031959Leg dystonia2JPH3 CL E G H5733898934ORPHA017614203605268
HP:0001332HP:0012049Laryngeal dystonia2KAT6A CL E G H7994457193ORPHA0105113013601408
HP:0001332HP:0012179Craniofacial dystonia2KAT6A CL E G H7994457193ORPHA0105113013601408
HP:0001332HP:0002356Writer's cramp2KAT6A CL E G H7994457193ORPHA0105113013601408
HP:0001332HP:0031960Arm dystonia2KAT6A CL E G H7994457193ORPHA0105113013601408
HP:0001332HP:0031959Leg dystonia2KAT6A CL E G H7994457193ORPHA0105113013601408
HP:0001332HP:0012049Laryngeal dystonia2LRRK2 CL E G H120892411602ORPHA0294818618609007
HP:0001332HP:0012179Craniofacial dystonia2LRRK2 CL E G H120892411602ORPHA0294818618609007
HP:0001332HP:0002356Writer's cramp2LRRK2 CL E G H120892411602ORPHA0294818618609007
HP:0001332HP:0031960Arm dystonia2LRRK2 CL E G H120892411602ORPHA0294818618609007
HP:0001332HP:0031959Leg dystonia2LRRK2 CL E G H120892411602ORPHA0294818618609007
HP:0001332HP:0012049Laryngeal dystonia2MICU1 CL E G H10367615673Myopathy with extrapyramidal signs615673C3810285OMIM02651530605084
HP:0001332HP:0012179Craniofacial dystonia2MICU1 CL E G H10367615673Myopathy with extrapyramidal signs615673C3810285OMIM02651530605084
HP:0001332HP:0002356Writer's cramp2MICU1 CL E G H10367615673Myopathy with extrapyramidal signs615673C3810285OMIM02651530605084
HP:0001332HP:0031960Arm dystonia2MICU1 CL E G H10367615673Myopathy with extrapyramidal signs615673C3810285OMIM02651530605084
HP:0001332HP:0031959Leg dystonia2MICU1 CL E G H10367615673Myopathy with extrapyramidal signs615673C3810285OMIM02651530605084
HP:0001332HP:0012049Laryngeal dystonia2MMUT CL E G H4594289916ORPHA08967526609058
HP:0001332HP:0012179Craniofacial dystonia2MMUT CL E G H4594289916ORPHA08967526609058
HP:0001332HP:0002356Writer's cramp2MMUT CL E G H4594289916ORPHA08967526609058
HP:0001332HP:0031960Arm dystonia2MMUT CL E G H4594289916ORPHA08967526609058
HP:0001332HP:0031959Leg dystonia2MMUT CL E G H4594289916ORPHA08967526609058
HP:0001332HP:0012049Laryngeal dystonia2MT-CO1 CL E G H4512550ORPHA07419516030
HP:0001332HP:0012179Craniofacial dystonia2MT-CO1 CL E G H4512550ORPHA07419516030
HP:0001332HP:0002356Writer's cramp2MT-CO1 CL E G H4512550ORPHA07419516030
HP:0001332HP:0031960Arm dystonia2MT-CO1 CL E G H4512550ORPHA07419516030
HP:0001332HP:0031959Leg dystonia2MT-CO1 CL E G H4512550ORPHA07419516030
HP:0001332HP:0012049Laryngeal dystonia2MT-CO2 CL E G H4513550ORPHA07421516040
HP:0001332HP:0012179Craniofacial dystonia2MT-CO2 CL E G H4513550ORPHA07421516040
HP:0001332HP:0002356Writer's cramp2MT-CO2 CL E G H4513550ORPHA07421516040
HP:0001332HP:0031960Arm dystonia2MT-CO2 CL E G H4513550ORPHA07421516040
HP:0001332HP:0031959Leg dystonia2MT-CO2 CL E G H4513550ORPHA07421516040
HP:0001332HP:0012049Laryngeal dystonia2MT-CO3 CL E G H4514550ORPHA07422516050
HP:0001332HP:0012179Craniofacial dystonia2MT-CO3 CL E G H4514550ORPHA07422516050
HP:0001332HP:0002356Writer's cramp2MT-CO3 CL E G H4514550ORPHA07422516050
HP:0001332HP:0031960Arm dystonia2MT-CO3 CL E G H4514550ORPHA07422516050
HP:0001332HP:0031959Leg dystonia2MT-CO3 CL E G H4514550ORPHA07422516050
HP:0001332HP:0012049Laryngeal dystonia2MT-ND1 CL E G H4535550ORPHA07455516000
HP:0001332HP:0012179Craniofacial dystonia2MT-ND1 CL E G H4535550ORPHA07455516000
HP:0001332HP:0002356Writer's cramp2MT-ND1 CL E G H4535550ORPHA07455516000
HP:0001332HP:0031960Arm dystonia2MT-ND1 CL E G H4535550ORPHA07455516000
HP:0001332HP:0031959Leg dystonia2MT-ND1 CL E G H4535550ORPHA07455516000
HP:0001332HP:0012049Laryngeal dystonia2MT-ND4 CL E G H4538550ORPHA07459516003
HP:0001332HP:0012179Craniofacial dystonia2MT-ND4 CL E G H4538550ORPHA07459516003
HP:0001332HP:0002356Writer's cramp2MT-ND4 CL E G H4538550ORPHA07459516003
HP:0001332HP:0031960Arm dystonia2MT-ND4 CL E G H4538550ORPHA07459516003
HP:0001332HP:0031959Leg dystonia2MT-ND4 CL E G H4538550ORPHA07459516003
HP:0001332HP:0012049Laryngeal dystonia2MT-ND5 CL E G H4540550ORPHA07461516005
HP:0001332HP:0012179Craniofacial dystonia2MT-ND5 CL E G H4540550ORPHA07461516005
HP:0001332HP:0002356Writer's cramp2MT-ND5 CL E G H4540550ORPHA07461516005
HP:0001332HP:0031960Arm dystonia2MT-ND5 CL E G H4540550ORPHA07461516005
HP:0001332HP:0031959Leg dystonia2MT-ND5 CL E G H4540550ORPHA07461516005
HP:0001332HP:0012049Laryngeal dystonia2MT-ND6 CL E G H4541550ORPHA07462516006
HP:0001332HP:0012179Craniofacial dystonia2MT-ND6 CL E G H4541550ORPHA07462516006
HP:0001332HP:0002356Writer's cramp2MT-ND6 CL E G H4541550ORPHA07462516006
HP:0001332HP:0031960Arm dystonia2MT-ND6 CL E G H4541550ORPHA07462516006
HP:0001332HP:0031959Leg dystonia2MT-ND6 CL E G H4541550ORPHA07462516006
HP:0001332HP:0012049Laryngeal dystonia2MT-TF CL E G H4558550ORPHA07481590070
HP:0001332HP:0012179Craniofacial dystonia2MT-TF CL E G H4558550ORPHA07481590070
HP:0001332HP:0002356Writer's cramp2MT-TF CL E G H4558550ORPHA07481590070
HP:0001332HP:0031960Arm dystonia2MT-TF CL E G H4558550ORPHA07481590070
HP:0001332HP:0031959Leg dystonia2MT-TF CL E G H4558550ORPHA07481590070
HP:0001332HP:0012049Laryngeal dystonia2MT-TH CL E G H4564550ORPHA07487590040
HP:0001332HP:0012179Craniofacial dystonia2MT-TH CL E G H4564550ORPHA07487590040
HP:0001332HP:0002356Writer's cramp2MT-TH CL E G H4564550ORPHA07487590040
HP:0001332HP:0031960Arm dystonia2MT-TH CL E G H4564550ORPHA07487590040
HP:0001332HP:0031959Leg dystonia2MT-TH CL E G H4564550ORPHA07487590040
HP:0001332HP:0012049Laryngeal dystonia2MT-TL1 CL E G H4567550ORPHA07490590050
HP:0001332HP:0012179Craniofacial dystonia2MT-TL1 CL E G H4567550ORPHA07490590050
HP:0001332HP:0002356Writer's cramp2MT-TL1 CL E G H4567550ORPHA07490590050
HP:0001332HP:0031960Arm dystonia2MT-TL1 CL E G H4567550ORPHA07490590050
HP:0001332HP:0031959Leg dystonia2MT-TL1 CL E G H4567550ORPHA07490590050
HP:0001332HP:0012049Laryngeal dystonia2MT-TQ CL E G H4572550ORPHA07495590030
HP:0001332HP:0012179Craniofacial dystonia2MT-TQ CL E G H4572550ORPHA07495590030
HP:0001332HP:0002356Writer's cramp2MT-TQ CL E G H4572550ORPHA07495590030
HP:0001332HP:0031960Arm dystonia2MT-TQ CL E G H4572550ORPHA07495590030
HP:0001332HP:0031959Leg dystonia2MT-TQ CL E G H4572550ORPHA07495590030
HP:0001332HP:0012049Laryngeal dystonia2MT-TS1 CL E G H4574550ORPHA07497590080
HP:0001332HP:0012179Craniofacial dystonia2MT-TS1 CL E G H4574550ORPHA07497590080
HP:0001332HP:0002356Writer's cramp2MT-TS1 CL E G H4574550ORPHA07497590080
HP:0001332HP:0031960Arm dystonia2MT-TS1 CL E G H4574550ORPHA07497590080
HP:0001332HP:0031959Leg dystonia2MT-TS1 CL E G H4574550ORPHA07497590080
HP:0001332HP:0012049Laryngeal dystonia2MT-TS2 CL E G H4575550ORPHA07498590085
HP:0001332HP:0012179Craniofacial dystonia2MT-TS2 CL E G H4575550ORPHA07498590085
HP:0001332HP:0002356Writer's cramp2MT-TS2 CL E G H4575550ORPHA07498590085
HP:0001332HP:0031960Arm dystonia2MT-TS2 CL E G H4575550ORPHA07498590085
HP:0001332HP:0031959Leg dystonia2MT-TS2 CL E G H4575550ORPHA07498590085
HP:0001332HP:0012049Laryngeal dystonia2MT-TW CL E G H4578550ORPHA07501590095
HP:0001332HP:0012179Craniofacial dystonia2MT-TW CL E G H4578550ORPHA07501590095
HP:0001332HP:0002356Writer's cramp2MT-TW CL E G H4578550ORPHA07501590095
HP:0001332HP:0031960Arm dystonia2MT-TW CL E G H4578550ORPHA07501590095
HP:0001332HP:0031959Leg dystonia2MT-TW CL E G H4578550ORPHA07501590095
HP:0001332HP:0012049Laryngeal dystonia2MTO1 CL E G H25821614702Combined oxidative phosphorylation deficiency 10614702C3553529OMIM063819261614667
HP:0001332HP:0012179Craniofacial dystonia2MTO1 CL E G H25821614702Combined oxidative phosphorylation deficiency 10614702C3553529OMIM063819261614667
HP:0001332HP:0002356Writer's cramp2MTO1 CL E G H25821614702Combined oxidative phosphorylation deficiency 10614702C3553529OMIM063819261614667
HP:0001332HP:0031960Arm dystonia2MTO1 CL E G H25821614702Combined oxidative phosphorylation deficiency 10614702C3553529OMIM063819261614667
HP:0001332HP:0031959Leg dystonia2MTO1 CL E G H25821614702Combined oxidative phosphorylation deficiency 10614702C3553529OMIM063819261614667
HP:0001332HP:0012049Laryngeal dystonia2OFD1 CL E G H84812750ORPHA010202567300170
HP:0001332HP:0012179Craniofacial dystonia2OFD1 CL E G H84812750ORPHA010202567300170
HP:0001332HP:0002356Writer's cramp2OFD1 CL E G H84812750ORPHA010202567300170
HP:0001332HP:0031960Arm dystonia2OFD1 CL E G H84812750ORPHA010202567300170
HP:0001332HP:0031959Leg dystonia2OFD1 CL E G H84812750ORPHA010202567300170
HP:0001332HP:0012049Laryngeal dystonia2PIK3R5 CL E G H2353364753ORPHA09030035611317
HP:0001332HP:0012179Craniofacial dystonia2PIK3R5 CL E G H2353364753ORPHA09030035611317
HP:0001332HP:0002356Writer's cramp2PIK3R5 CL E G H2353364753ORPHA09030035611317
HP:0001332HP:0031960Arm dystonia2PIK3R5 CL E G H2353364753ORPHA09030035611317
HP:0001332HP:0031959Leg dystonia2PIK3R5 CL E G H2353364753ORPHA09030035611317
HP:0001332HP:0012049Laryngeal dystonia2PLEKHG2 CL E G H64857616763Leukodystrophy and acquired microcephaly with or without dystonia616763C4225213OMIM040829515611893
HP:0001332HP:0012179Craniofacial dystonia2PLEKHG2 CL E G H64857616763Leukodystrophy and acquired microcephaly with or without dystonia616763C4225213OMIM040829515611893
HP:0001332HP:0002356Writer's cramp2PLEKHG2 CL E G H64857616763Leukodystrophy and acquired microcephaly with or without dystonia616763C4225213OMIM040829515611893
HP:0001332HP:0031960Arm dystonia2PLEKHG2 CL E G H64857616763Leukodystrophy and acquired microcephaly with or without dystonia616763C4225213OMIM040829515611893
HP:0001332HP:0031959Leg dystonia2PLEKHG2 CL E G H64857616763Leukodystrophy and acquired microcephaly with or without dystonia616763C4225213OMIM040829515611893
HP:0001332HP:0012049Laryngeal dystonia2RNASEH2B CL E G H79621610181Aicardi Goutieres syndrome 2610181C3489724OMIM042625671610326
HP:0001332HP:0012179Craniofacial dystonia2RNASEH2B CL E G H79621610181Aicardi Goutieres syndrome 2610181C3489724OMIM042625671610326
HP:0001332HP:0002356Writer's cramp2RNASEH2B CL E G H79621610181Aicardi Goutieres syndrome 2610181C3489724OMIM042625671610326
HP:0001332HP:0031960Arm dystonia2RNASEH2B CL E G H79621610181Aicardi Goutieres syndrome 2610181C3489724OMIM042625671610326
HP:0001332HP:0031959Leg dystonia2RNASEH2B CL E G H79621610181Aicardi Goutieres syndrome 2610181C3489724OMIM042625671610326
HP:0001332HP:0012049Laryngeal dystonia2RNASET2 CL E G H8635612951Leukoencephalopathy, cystic, without megalencephaly612951C2751843OMIM019921686612944
HP:0001332HP:0012179Craniofacial dystonia2RNASET2 CL E G H8635612951Leukoencephalopathy, cystic, without megalencephaly612951C2751843OMIM019921686612944
HP:0001332HP:0002356Writer's cramp2RNASET2 CL E G H8635612951Leukoencephalopathy, cystic, without megalencephaly612951C2751843OMIM019921686612944
HP:0001332HP:0031960Arm dystonia2RNASET2 CL E G H8635612951Leukoencephalopathy, cystic, without megalencephaly612951C2751843OMIM019921686612944
HP:0001332HP:0031959Leg dystonia2RNASET2 CL E G H8635612951Leukoencephalopathy, cystic, without megalencephaly612951C2751843OMIM019921686612944
HP:0001332HP:0012049Laryngeal dystonia2SETX CL E G H2306464753ORPHA01556445608465
HP:0001332HP:0012179Craniofacial dystonia2SETX CL E G H2306464753ORPHA01556445608465
HP:0001332HP:0002356Writer's cramp2SETX CL E G H2306464753ORPHA01556445608465
HP:0001332HP:0031960Arm dystonia2SETX CL E G H2306464753ORPHA01556445608465
HP:0001332HP:0031959Leg dystonia2SETX CL E G H2306464753ORPHA01556445608465
HP:0001332HP:0012049Laryngeal dystonia2SETX CL E G H23064606002Spinocerebellar ataxia autosomal recessive 1606002C1853761OMIM01556445608465
HP:0001332HP:0012179Craniofacial dystonia2SETX CL E G H23064606002Spinocerebellar ataxia autosomal recessive 1606002C1853761OMIM01556445608465
HP:0001332HP:0002356Writer's cramp2SETX CL E G H23064606002Spinocerebellar ataxia autosomal recessive 1606002C1853761OMIM01556445608465
HP:0001332HP:0031960Arm dystonia2SETX CL E G H23064606002Spinocerebellar ataxia autosomal recessive 1606002C1853761OMIM01556445608465
HP:0001332HP:0031959Leg dystonia2SETX CL E G H23064606002Spinocerebellar ataxia autosomal recessive 1606002C1853761OMIM01556445608465
HP:0001332HP:0012049Laryngeal dystonia2SNCA CL E G H6622411602ORPHA019311138163890
HP:0001332HP:0012179Craniofacial dystonia2SNCA CL E G H6622411602ORPHA019311138163890
HP:0001332HP:0002356Writer's cramp2SNCA CL E G H6622411602ORPHA019311138163890
HP:0001332HP:0031960Arm dystonia2SNCA CL E G H6622411602ORPHA019311138163890
HP:0001332HP:0031959Leg dystonia2SNCA CL E G H6622411602ORPHA019311138163890
HP:0001332HP:0012049Laryngeal dystonia2TAF1 CL E G H6872300966Mental retardation, X-linked, syndromic 33300966C4225418OMIM053411535313650
HP:0001332HP:0012179Craniofacial dystonia2TAF1 CL E G H6872300966Mental retardation, X-linked, syndromic 33300966C4225418OMIM053411535313650
HP:0001332HP:0002356Writer's cramp2TAF1 CL E G H6872300966Mental retardation, X-linked, syndromic 33300966C4225418OMIM053411535313650
HP:0001332HP:0031960Arm dystonia2TAF1 CL E G H6872300966Mental retardation, X-linked, syndromic 33300966C4225418OMIM053411535313650
HP:0001332HP:0031959Leg dystonia2TAF1 CL E G H6872300966Mental retardation, X-linked, syndromic 33300966C4225418OMIM053411535313650
HP:0001332HP:0012049Laryngeal dystonia2TANGO2 CL E G H128989616878TANGO2-Related Metabolic Encephalopathy and Arrhythmias616878C4225171OMIM071525439616830
HP:0001332HP:0012179Craniofacial dystonia2TANGO2 CL E G H128989616878TANGO2-Related Metabolic Encephalopathy and Arrhythmias616878C4225171OMIM071525439616830
HP:0001332HP:0002356Writer's cramp2TANGO2 CL E G H128989616878TANGO2-Related Metabolic Encephalopathy and Arrhythmias616878C4225171OMIM071525439616830
HP:0001332HP:0031960Arm dystonia2TANGO2 CL E G H128989616878TANGO2-Related Metabolic Encephalopathy and Arrhythmias616878C4225171OMIM071525439616830
HP:0001332HP:0031959Leg dystonia2TANGO2 CL E G H128989616878TANGO2-Related Metabolic Encephalopathy and Arrhythmias616878C4225171OMIM071525439616830
HP:0001332HP:0012049Laryngeal dystonia2TTBK2 CL E G H14605798767ORPHA033819141611695
HP:0001332HP:0012179Craniofacial dystonia2TTBK2 CL E G H14605798767ORPHA033819141611695
HP:0001332HP:0002356Writer's cramp2TTBK2 CL E G H14605798767ORPHA033819141611695
HP:0001332HP:0031960Arm dystonia2TTBK2 CL E G H14605798767ORPHA033819141611695
HP:0001332HP:0031959Leg dystonia2TTBK2 CL E G H14605798767ORPHA033819141611695
HP:0001332HP:0012049Laryngeal dystonia2TTPA CL E G H727496ORPHA038912404600415
HP:0001332HP:0012179Craniofacial dystonia2TTPA CL E G H727496ORPHA038912404600415
HP:0001332HP:0002356Writer's cramp2TTPA CL E G H727496ORPHA038912404600415
HP:0001332HP:0031960Arm dystonia2TTPA CL E G H727496ORPHA038912404600415
HP:0001332HP:0031959Leg dystonia2TTPA CL E G H727496ORPHA038912404600415
HP:0001332HP:0012049Laryngeal dystonia2VAMP1 CL E G H6843251282ORPHA014112642185880
HP:0001332HP:0012179Craniofacial dystonia2VAMP1 CL E G H6843251282ORPHA014112642185880
HP:0001332HP:0002356Writer's cramp2VAMP1 CL E G H6843251282ORPHA014112642185880
HP:0001332HP:0031960Arm dystonia2VAMP1 CL E G H6843251282ORPHA014112642185880
HP:0001332HP:0031959Leg dystonia2VAMP1 CL E G H6843251282ORPHA014112642185880
HP:0001332HP:0012049Laryngeal dystonia2VPS35 CL E G H55737411602ORPHA022813487601501
HP:0001332HP:0012179Craniofacial dystonia2VPS35 CL E G H55737411602ORPHA022813487601501
HP:0001332HP:0002356Writer's cramp2VPS35 CL E G H55737411602ORPHA022813487601501
HP:0001332HP:0031960Arm dystonia2VPS35 CL E G H55737411602ORPHA022813487601501
HP:0001332HP:0031959Leg dystonia2VPS35 CL E G H55737411602ORPHA022813487601501
HP:0001332HP:0012049Laryngeal dystonia2VPS37A CL E G H137492614898Spastic paraplegia 53, autosomal recessive614898C3539494OMIM025924928609927
HP:0001332HP:0012179Craniofacial dystonia2VPS37A CL E G H137492614898Spastic paraplegia 53, autosomal recessive614898C3539494OMIM025924928609927
HP:0001332HP:0002356Writer's cramp2VPS37A CL E G H137492614898Spastic paraplegia 53, autosomal recessive614898C3539494OMIM025924928609927
HP:0001332HP:0031960Arm dystonia2VPS37A CL E G H137492614898Spastic paraplegia 53, autosomal recessive614898C3539494OMIM025924928609927
HP:0001332HP:0031959Leg dystonia2VPS37A CL E G H137492614898Spastic paraplegia 53, autosomal recessive614898C3539494OMIM025924928609927
HP:0001332HP:0012049Laryngeal dystonia2WDR73 CL E G H84942251300Galloway-Mowat syndrome 1251300CN031715OMIM022025928616144
HP:0001332HP:0012179Craniofacial dystonia2WDR73 CL E G H84942251300Galloway-Mowat syndrome 1251300CN031715OMIM022025928616144
HP:0001332HP:0002356Writer's cramp2WDR73 CL E G H84942251300Galloway-Mowat syndrome 1251300CN031715OMIM022025928616144
HP:0001332HP:0031960Arm dystonia2WDR73 CL E G H84942251300Galloway-Mowat syndrome 1251300CN031715OMIM022025928616144
HP:0001332HP:0031959Leg dystonia2WDR73 CL E G H84942251300Galloway-Mowat syndrome 1251300CN031715OMIM022025928616144
HP:0001332HP:0000643Blepharospasm3AFG3L2 CL E G H10939610246Spinocerebellar ataxia 28610246C1853249OMIM0480315604581
HP:0001332HP:0000473Torticollis3AFG3L2 CL E G H10939610246Spinocerebellar ataxia 28610246C1853249OMIM0480315604581
HP:0001332HP:0031008Lingual dystonia3AFG3L2 CL E G H10939610246Spinocerebellar ataxia 28610246C1853249OMIM0480315604581
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3AFG3L2 CL E G H10939610246Spinocerebellar ataxia 28610246C1853249OMIM0480315604581
HP:0001332HP:0012048Oromandibular dystonia3AFG3L2 CL E G H10939610246Spinocerebellar ataxia 28610246C1853249OMIM0480315604581
HP:0001332HP:0000643Blepharospasm3AGTPBP1 CL E G H23287618276618276618276OMIM010517258606830
HP:0001332HP:0000473Torticollis3AGTPBP1 CL E G H23287618276618276618276OMIM010517258606830
HP:0001332HP:0031008Lingual dystonia3AGTPBP1 CL E G H23287618276618276618276OMIM010517258606830
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3AGTPBP1 CL E G H23287618276618276618276OMIM010517258606830
HP:0001332HP:0012048Oromandibular dystonia3AGTPBP1 CL E G H23287618276618276618276OMIM010517258606830
HP:0001332HP:0000643Blepharospasm3ALS2 CL E G H57679205100Amyotrophic lateral sclerosis type 2205100C1859807OMIM0947443606352
HP:0001332HP:0000473Torticollis3ALS2 CL E G H57679205100Amyotrophic lateral sclerosis type 2205100C1859807OMIM0947443606352
HP:0001332HP:0031008Lingual dystonia3ALS2 CL E G H57679205100Amyotrophic lateral sclerosis type 2205100C1859807OMIM0947443606352
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3ALS2 CL E G H57679205100Amyotrophic lateral sclerosis type 2205100C1859807OMIM0947443606352
HP:0001332HP:0012048Oromandibular dystonia3ALS2 CL E G H57679205100Amyotrophic lateral sclerosis type 2205100C1859807OMIM0947443606352
HP:0001332HP:0000643Blepharospasm3ATP1A3 CL E G H4781171ORPHA0993801182350
HP:0001332HP:0000473Torticollis3ATP1A3 CL E G H4781171ORPHA0993801182350
HP:0001332HP:0031008Lingual dystonia3ATP1A3 CL E G H4781171ORPHA0993801182350
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3ATP1A3 CL E G H4781171ORPHA0993801182350
HP:0001332HP:0012048Oromandibular dystonia3ATP1A3 CL E G H4781171ORPHA0993801182350
HP:0001332HP:0000643Blepharospasm3ATXN3 CL E G H4287109150Azorean disease109150C0024408OMIM0657106607047
HP:0001332HP:0000473Torticollis3ATXN3 CL E G H4287109150Azorean disease109150C0024408OMIM0657106607047
HP:0001332HP:0031008Lingual dystonia3ATXN3 CL E G H4287109150Azorean disease109150C0024408OMIM0657106607047
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3ATXN3 CL E G H4287109150Azorean disease109150C0024408OMIM0657106607047
HP:0001332HP:0012048Oromandibular dystonia3ATXN3 CL E G H4287109150Azorean disease109150C0024408OMIM0657106607047
HP:0001332HP:0000643Blepharospasm3AUH CL E G H54967046ORPHA0249890600529
HP:0001332HP:0000473Torticollis3AUH CL E G H54967046ORPHA0249890600529
HP:0001332HP:0031008Lingual dystonia3AUH CL E G H54967046ORPHA0249890600529
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3AUH CL E G H54967046ORPHA0249890600529
HP:0001332HP:0012048Oromandibular dystonia3AUH CL E G H54967046ORPHA0249890600529
HP:0001332HP:0000643Blepharospasm3B4GALNT1 CL E G H2583101006ORPHA02954117601873
HP:0001332HP:0000473Torticollis3B4GALNT1 CL E G H2583101006ORPHA02954117601873
HP:0001332HP:0031008Lingual dystonia3B4GALNT1 CL E G H2583101006ORPHA02954117601873
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3B4GALNT1 CL E G H2583101006ORPHA02954117601873
HP:0001332HP:0012048Oromandibular dystonia3B4GALNT1 CL E G H2583101006ORPHA02954117601873
HP:0001332HP:0000643Blepharospasm3C9orf72 CL E G H203228401901ORPHA017728337614260
HP:0001332HP:0000473Torticollis3C9orf72 CL E G H203228401901ORPHA017728337614260
HP:0001332HP:0031008Lingual dystonia3C9orf72 CL E G H203228401901ORPHA017728337614260
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3C9orf72 CL E G H203228401901ORPHA017728337614260
HP:0001332HP:0012048Oromandibular dystonia3C9orf72 CL E G H203228401901ORPHA017728337614260
HP:0001332HP:0000643Blepharospasm3COQ8A CL E G H56997139485ORPHA069916812606980
HP:0001332HP:0000473Torticollis3COQ8A CL E G H56997139485ORPHA069916812606980
HP:0001332HP:0031008Lingual dystonia3COQ8A CL E G H56997139485ORPHA069916812606980
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3COQ8A CL E G H56997139485ORPHA069916812606980
HP:0001332HP:0012048Oromandibular dystonia3COQ8A CL E G H56997139485ORPHA069916812606980
HP:0001332HP:0000643Blepharospasm3CYP2U1 CL E G H113612320411ORPHA029120582610670
HP:0001332HP:0000473Torticollis3CYP2U1 CL E G H113612320411ORPHA029120582610670
HP:0001332HP:0031008Lingual dystonia3CYP2U1 CL E G H113612320411ORPHA029120582610670
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3CYP2U1 CL E G H113612320411ORPHA029120582610670
HP:0001332HP:0012048Oromandibular dystonia3CYP2U1 CL E G H113612320411ORPHA029120582610670
HP:0001332HP:0000643Blepharospasm3DNAJC13 CL E G H23317411602ORPHA023730343614334
HP:0001332HP:0000473Torticollis3DNAJC13 CL E G H23317411602ORPHA023730343614334
HP:0001332HP:0031008Lingual dystonia3DNAJC13 CL E G H23317411602ORPHA023730343614334
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3DNAJC13 CL E G H23317411602ORPHA023730343614334
HP:0001332HP:0012048Oromandibular dystonia3DNAJC13 CL E G H23317411602ORPHA023730343614334
HP:0001332HP:0000643Blepharospasm3DNAJC19 CL E G H13111866634ORPHA014230528608977
HP:0001332HP:0000473Torticollis3DNAJC19 CL E G H13111866634ORPHA014230528608977
HP:0001332HP:0031008Lingual dystonia3DNAJC19 CL E G H13111866634ORPHA014230528608977
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3DNAJC19 CL E G H13111866634ORPHA014230528608977
HP:0001332HP:0012048Oromandibular dystonia3DNAJC19 CL E G H13111866634ORPHA014230528608977
HP:0001332HP:0000643Blepharospasm3DNAJC6 CL E G H9829615528Parkinson disease 19a, juvenile-onset615528C3809811OMIM031015469608375
HP:0001332HP:0000473Torticollis3DNAJC6 CL E G H9829615528Parkinson disease 19a, juvenile-onset615528C3809811OMIM031015469608375
HP:0001332HP:0031008Lingual dystonia3DNAJC6 CL E G H9829615528Parkinson disease 19a, juvenile-onset615528C3809811OMIM031015469608375
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3DNAJC6 CL E G H9829615528Parkinson disease 19a, juvenile-onset615528C3809811OMIM031015469608375
HP:0001332HP:0012048Oromandibular dystonia3DNAJC6 CL E G H9829615528Parkinson disease 19a, juvenile-onset615528C3809811OMIM031015469608375
HP:0001332HP:0000643Blepharospasm3EIF4G1 CL E G H1981411602ORPHA01473296600495
HP:0001332HP:0000473Torticollis3EIF4G1 CL E G H1981411602ORPHA01473296600495
HP:0001332HP:0031008Lingual dystonia3EIF4G1 CL E G H1981411602ORPHA01473296600495
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3EIF4G1 CL E G H1981411602ORPHA01473296600495
HP:0001332HP:0012048Oromandibular dystonia3EIF4G1 CL E G H1981411602ORPHA01473296600495
HP:0001332HP:0000643Blepharospasm3EMC1 CL E G H23065616875Cerebellar atrophy, visual impairment, and psychomotor retardation616875C4225172OMIM093828957616846
HP:0001332HP:0000473Torticollis3EMC1 CL E G H23065616875Cerebellar atrophy, visual impairment, and psychomotor retardation616875C4225172OMIM093828957616846
HP:0001332HP:0031008Lingual dystonia3EMC1 CL E G H23065616875Cerebellar atrophy, visual impairment, and psychomotor retardation616875C4225172OMIM093828957616846
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3EMC1 CL E G H23065616875Cerebellar atrophy, visual impairment, and psychomotor retardation616875C4225172OMIM093828957616846
HP:0001332HP:0012048Oromandibular dystonia3EMC1 CL E G H23065616875Cerebellar atrophy, visual impairment, and psychomotor retardation616875C4225172OMIM093828957616846
HP:0001332HP:0000643Blepharospasm3FBXL4 CL E G H26235615471Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)615471C3809592OMIM056613601605654
HP:0001332HP:0000473Torticollis3FBXL4 CL E G H26235615471Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)615471C3809592OMIM056613601605654
HP:0001332HP:0031008Lingual dystonia3FBXL4 CL E G H26235615471Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)615471C3809592OMIM056613601605654
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3FBXL4 CL E G H26235615471Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)615471C3809592OMIM056613601605654
HP:0001332HP:0012048Oromandibular dystonia3FBXL4 CL E G H26235615471Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)615471C3809592OMIM056613601605654
HP:0001332HP:0000643Blepharospasm3FXN CL E G H239595ORPHA01583951606829
HP:0001332HP:0000473Torticollis3FXN CL E G H239595ORPHA01583951606829
HP:0001332HP:0031008Lingual dystonia3FXN CL E G H239595ORPHA01583951606829
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3FXN CL E G H239595ORPHA01583951606829
HP:0001332HP:0012048Oromandibular dystonia3FXN CL E G H239595ORPHA01583951606829
HP:0001332HP:0000643Blepharospasm3GBA CL E G H2629411602ORPHA04177606463
HP:0001332HP:0000473Torticollis3GBA CL E G H2629411602ORPHA04177606463
HP:0001332HP:0031008Lingual dystonia3GBA CL E G H2629411602ORPHA04177606463
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3GBA CL E G H2629411602ORPHA04177606463
HP:0001332HP:0012048Oromandibular dystonia3GBA CL E G H2629411602ORPHA04177606463
HP:0001332HP:0000643Blepharospasm3GIGYF2 CL E G H26058411602ORPHA033811960612003
HP:0001332HP:0000473Torticollis3GIGYF2 CL E G H26058411602ORPHA033811960612003
HP:0001332HP:0031008Lingual dystonia3GIGYF2 CL E G H26058411602ORPHA033811960612003
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3GIGYF2 CL E G H26058411602ORPHA033811960612003
HP:0001332HP:0012048Oromandibular dystonia3GIGYF2 CL E G H26058411602ORPHA033811960612003
HP:0001332HP:0000643Blepharospasm3GNAO1 CL E G H2775615473Early infantile epileptic encephalopathy 17615473C3809606OMIM04294389139311
HP:0001332HP:0000473Torticollis3GNAO1 CL E G H2775615473Early infantile epileptic encephalopathy 17615473C3809606OMIM04294389139311
HP:0001332HP:0031008Lingual dystonia3GNAO1 CL E G H2775615473Early infantile epileptic encephalopathy 17615473C3809606OMIM04294389139311
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3GNAO1 CL E G H2775615473Early infantile epileptic encephalopathy 17615473C3809606OMIM04294389139311
HP:0001332HP:0012048Oromandibular dystonia3GNAO1 CL E G H2775615473Early infantile epileptic encephalopathy 17615473C3809606OMIM04294389139311
HP:0001332HP:0000643Blepharospasm3GRIK2 CL E G H2898611092Mental retardation, autosomal recessive 6611092C1970198OMIM01894580138244
HP:0001332HP:0000473Torticollis3GRIK2 CL E G H2898611092Mental retardation, autosomal recessive 6611092C1970198OMIM01894580138244
HP:0001332HP:0031008Lingual dystonia3GRIK2 CL E G H2898611092Mental retardation, autosomal recessive 6611092C1970198OMIM01894580138244
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3GRIK2 CL E G H2898611092Mental retardation, autosomal recessive 6611092C1970198OMIM01894580138244
HP:0001332HP:0012048Oromandibular dystonia3GRIK2 CL E G H2898611092Mental retardation, autosomal recessive 6611092C1970198OMIM01894580138244
HP:0001332HP:0000643Blepharospasm3HACE1 CL E G H57531616756Spastic paraplegia and psychomotor retardation with or without seizures616756C4225215OMIM022721033610876
HP:0001332HP:0000473Torticollis3HACE1 CL E G H57531616756Spastic paraplegia and psychomotor retardation with or without seizures616756C4225215OMIM022721033610876
HP:0001332HP:0031008Lingual dystonia3HACE1 CL E G H57531616756Spastic paraplegia and psychomotor retardation with or without seizures616756C4225215OMIM022721033610876
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3HACE1 CL E G H57531616756Spastic paraplegia and psychomotor retardation with or without seizures616756C4225215OMIM022721033610876
HP:0001332HP:0012048Oromandibular dystonia3HACE1 CL E G H57531616756Spastic paraplegia and psychomotor retardation with or without seizures616756C4225215OMIM022721033610876
HP:0001332HP:0000643Blepharospasm3JPH3 CL E G H5733898934ORPHA017614203605268
HP:0001332HP:0000473Torticollis3JPH3 CL E G H5733898934ORPHA017614203605268
HP:0001332HP:0031008Lingual dystonia3JPH3 CL E G H5733898934ORPHA017614203605268
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3JPH3 CL E G H5733898934ORPHA017614203605268
HP:0001332HP:0012048Oromandibular dystonia3JPH3 CL E G H5733898934ORPHA017614203605268
HP:0001332HP:0000643Blepharospasm3KAT6A CL E G H7994457193ORPHA0105113013601408
HP:0001332HP:0000473Torticollis3KAT6A CL E G H7994457193ORPHA0105113013601408
HP:0001332HP:0031008Lingual dystonia3KAT6A CL E G H7994457193ORPHA0105113013601408
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3KAT6A CL E G H7994457193ORPHA0105113013601408
HP:0001332HP:0012048Oromandibular dystonia3KAT6A CL E G H7994457193ORPHA0105113013601408
HP:0001332HP:0000643Blepharospasm3LRRK2 CL E G H120892411602ORPHA0294818618609007
HP:0001332HP:0000473Torticollis3LRRK2 CL E G H120892411602ORPHA0294818618609007
HP:0001332HP:0031008Lingual dystonia3LRRK2 CL E G H120892411602ORPHA0294818618609007
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3LRRK2 CL E G H120892411602ORPHA0294818618609007
HP:0001332HP:0012048Oromandibular dystonia3LRRK2 CL E G H120892411602ORPHA0294818618609007
HP:0001332HP:0000643Blepharospasm3MICU1 CL E G H10367615673Myopathy with extrapyramidal signs615673C3810285OMIM02651530605084
HP:0001332HP:0000473Torticollis3MICU1 CL E G H10367615673Myopathy with extrapyramidal signs615673C3810285OMIM02651530605084
HP:0001332HP:0031008Lingual dystonia3MICU1 CL E G H10367615673Myopathy with extrapyramidal signs615673C3810285OMIM02651530605084
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3MICU1 CL E G H10367615673Myopathy with extrapyramidal signs615673C3810285OMIM02651530605084
HP:0001332HP:0012048Oromandibular dystonia3MICU1 CL E G H10367615673Myopathy with extrapyramidal signs615673C3810285OMIM02651530605084
HP:0001332HP:0000643Blepharospasm3MMUT CL E G H4594289916ORPHA08967526609058
HP:0001332HP:0000473Torticollis3MMUT CL E G H4594289916ORPHA08967526609058
HP:0001332HP:0031008Lingual dystonia3MMUT CL E G H4594289916ORPHA08967526609058
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3MMUT CL E G H4594289916ORPHA08967526609058
HP:0001332HP:0012048Oromandibular dystonia3MMUT CL E G H4594289916ORPHA08967526609058
HP:0001332HP:0000643Blepharospasm3MT-CO1 CL E G H4512550ORPHA07419516030
HP:0001332HP:0000473Torticollis3MT-CO1 CL E G H4512550ORPHA07419516030
HP:0001332HP:0031008Lingual dystonia3MT-CO1 CL E G H4512550ORPHA07419516030
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3MT-CO1 CL E G H4512550ORPHA07419516030
HP:0001332HP:0012048Oromandibular dystonia3MT-CO1 CL E G H4512550ORPHA07419516030
HP:0001332HP:0000643Blepharospasm3MT-CO2 CL E G H4513550ORPHA07421516040
HP:0001332HP:0000473Torticollis3MT-CO2 CL E G H4513550ORPHA07421516040
HP:0001332HP:0031008Lingual dystonia3MT-CO2 CL E G H4513550ORPHA07421516040
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3MT-CO2 CL E G H4513550ORPHA07421516040
HP:0001332HP:0012048Oromandibular dystonia3MT-CO2 CL E G H4513550ORPHA07421516040
HP:0001332HP:0000643Blepharospasm3MT-CO3 CL E G H4514550ORPHA07422516050
HP:0001332HP:0000473Torticollis3MT-CO3 CL E G H4514550ORPHA07422516050
HP:0001332HP:0031008Lingual dystonia3MT-CO3 CL E G H4514550ORPHA07422516050
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3MT-CO3 CL E G H4514550ORPHA07422516050
HP:0001332HP:0012048Oromandibular dystonia3MT-CO3 CL E G H4514550ORPHA07422516050
HP:0001332HP:0000643Blepharospasm3MT-ND1 CL E G H4535550ORPHA07455516000
HP:0001332HP:0000473Torticollis3MT-ND1 CL E G H4535550ORPHA07455516000
HP:0001332HP:0031008Lingual dystonia3MT-ND1 CL E G H4535550ORPHA07455516000
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3MT-ND1 CL E G H4535550ORPHA07455516000
HP:0001332HP:0012048Oromandibular dystonia3MT-ND1 CL E G H4535550ORPHA07455516000
HP:0001332HP:0000643Blepharospasm3MT-ND4 CL E G H4538550ORPHA07459516003
HP:0001332HP:0000473Torticollis3MT-ND4 CL E G H4538550ORPHA07459516003
HP:0001332HP:0031008Lingual dystonia3MT-ND4 CL E G H4538550ORPHA07459516003
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3MT-ND4 CL E G H4538550ORPHA07459516003
HP:0001332HP:0012048Oromandibular dystonia3MT-ND4 CL E G H4538550ORPHA07459516003
HP:0001332HP:0000643Blepharospasm3MT-ND5 CL E G H4540550ORPHA07461516005
HP:0001332HP:0000473Torticollis3MT-ND5 CL E G H4540550ORPHA07461516005
HP:0001332HP:0031008Lingual dystonia3MT-ND5 CL E G H4540550ORPHA07461516005
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3MT-ND5 CL E G H4540550ORPHA07461516005
HP:0001332HP:0012048Oromandibular dystonia3MT-ND5 CL E G H4540550ORPHA07461516005
HP:0001332HP:0000643Blepharospasm3MT-ND6 CL E G H4541550ORPHA07462516006
HP:0001332HP:0000473Torticollis3MT-ND6 CL E G H4541550ORPHA07462516006
HP:0001332HP:0031008Lingual dystonia3MT-ND6 CL E G H4541550ORPHA07462516006
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3MT-ND6 CL E G H4541550ORPHA07462516006
HP:0001332HP:0012048Oromandibular dystonia3MT-ND6 CL E G H4541550ORPHA07462516006
HP:0001332HP:0000643Blepharospasm3MT-TF CL E G H4558550ORPHA07481590070
HP:0001332HP:0000473Torticollis3MT-TF CL E G H4558550ORPHA07481590070
HP:0001332HP:0031008Lingual dystonia3MT-TF CL E G H4558550ORPHA07481590070
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3MT-TF CL E G H4558550ORPHA07481590070
HP:0001332HP:0012048Oromandibular dystonia3MT-TF CL E G H4558550ORPHA07481590070
HP:0001332HP:0000643Blepharospasm3MT-TH CL E G H4564550ORPHA07487590040
HP:0001332HP:0000473Torticollis3MT-TH CL E G H4564550ORPHA07487590040
HP:0001332HP:0031008Lingual dystonia3MT-TH CL E G H4564550ORPHA07487590040
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3MT-TH CL E G H4564550ORPHA07487590040
HP:0001332HP:0012048Oromandibular dystonia3MT-TH CL E G H4564550ORPHA07487590040
HP:0001332HP:0000643Blepharospasm3MT-TL1 CL E G H4567550ORPHA07490590050
HP:0001332HP:0000473Torticollis3MT-TL1 CL E G H4567550ORPHA07490590050
HP:0001332HP:0031008Lingual dystonia3MT-TL1 CL E G H4567550ORPHA07490590050
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3MT-TL1 CL E G H4567550ORPHA07490590050
HP:0001332HP:0012048Oromandibular dystonia3MT-TL1 CL E G H4567550ORPHA07490590050
HP:0001332HP:0000643Blepharospasm3MT-TQ CL E G H4572550ORPHA07495590030
HP:0001332HP:0000473Torticollis3MT-TQ CL E G H4572550ORPHA07495590030
HP:0001332HP:0031008Lingual dystonia3MT-TQ CL E G H4572550ORPHA07495590030
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3MT-TQ CL E G H4572550ORPHA07495590030
HP:0001332HP:0012048Oromandibular dystonia3MT-TQ CL E G H4572550ORPHA07495590030
HP:0001332HP:0000643Blepharospasm3MT-TS1 CL E G H4574550ORPHA07497590080
HP:0001332HP:0000473Torticollis3MT-TS1 CL E G H4574550ORPHA07497590080
HP:0001332HP:0031008Lingual dystonia3MT-TS1 CL E G H4574550ORPHA07497590080
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3MT-TS1 CL E G H4574550ORPHA07497590080
HP:0001332HP:0012048Oromandibular dystonia3MT-TS1 CL E G H4574550ORPHA07497590080
HP:0001332HP:0000643Blepharospasm3MT-TS2 CL E G H4575550ORPHA07498590085
HP:0001332HP:0000473Torticollis3MT-TS2 CL E G H4575550ORPHA07498590085
HP:0001332HP:0031008Lingual dystonia3MT-TS2 CL E G H4575550ORPHA07498590085
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3MT-TS2 CL E G H4575550ORPHA07498590085
HP:0001332HP:0012048Oromandibular dystonia3MT-TS2 CL E G H4575550ORPHA07498590085
HP:0001332HP:0000643Blepharospasm3MT-TW CL E G H4578550ORPHA07501590095
HP:0001332HP:0000473Torticollis3MT-TW CL E G H4578550ORPHA07501590095
HP:0001332HP:0031008Lingual dystonia3MT-TW CL E G H4578550ORPHA07501590095
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3MT-TW CL E G H4578550ORPHA07501590095
HP:0001332HP:0012048Oromandibular dystonia3MT-TW CL E G H4578550ORPHA07501590095
HP:0001332HP:0000643Blepharospasm3MTO1 CL E G H25821614702Combined oxidative phosphorylation deficiency 10614702C3553529OMIM063819261614667
HP:0001332HP:0000473Torticollis3MTO1 CL E G H25821614702Combined oxidative phosphorylation deficiency 10614702C3553529OMIM063819261614667
HP:0001332HP:0031008Lingual dystonia3MTO1 CL E G H25821614702Combined oxidative phosphorylation deficiency 10614702C3553529OMIM063819261614667
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3MTO1 CL E G H25821614702Combined oxidative phosphorylation deficiency 10614702C3553529OMIM063819261614667
HP:0001332HP:0012048Oromandibular dystonia3MTO1 CL E G H25821614702Combined oxidative phosphorylation deficiency 10614702C3553529OMIM063819261614667
HP:0001332HP:0000643Blepharospasm3OFD1 CL E G H84812750ORPHA010202567300170
HP:0001332HP:0000473Torticollis3OFD1 CL E G H84812750ORPHA010202567300170
HP:0001332HP:0031008Lingual dystonia3OFD1 CL E G H84812750ORPHA010202567300170
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3OFD1 CL E G H84812750ORPHA010202567300170
HP:0001332HP:0012048Oromandibular dystonia3OFD1 CL E G H84812750ORPHA010202567300170
HP:0001332HP:0000643Blepharospasm3PIK3R5 CL E G H2353364753ORPHA09030035611317
HP:0001332HP:0000473Torticollis3PIK3R5 CL E G H2353364753ORPHA09030035611317
HP:0001332HP:0031008Lingual dystonia3PIK3R5 CL E G H2353364753ORPHA09030035611317
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3PIK3R5 CL E G H2353364753ORPHA09030035611317
HP:0001332HP:0012048Oromandibular dystonia3PIK3R5 CL E G H2353364753ORPHA09030035611317
HP:0001332HP:0000643Blepharospasm3PLEKHG2 CL E G H64857616763Leukodystrophy and acquired microcephaly with or without dystonia616763C4225213OMIM040829515611893
HP:0001332HP:0000473Torticollis3PLEKHG2 CL E G H64857616763Leukodystrophy and acquired microcephaly with or without dystonia616763C4225213OMIM040829515611893
HP:0001332HP:0031008Lingual dystonia3PLEKHG2 CL E G H64857616763Leukodystrophy and acquired microcephaly with or without dystonia616763C4225213OMIM040829515611893
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3PLEKHG2 CL E G H64857616763Leukodystrophy and acquired microcephaly with or without dystonia616763C4225213OMIM040829515611893
HP:0001332HP:0012048Oromandibular dystonia3PLEKHG2 CL E G H64857616763Leukodystrophy and acquired microcephaly with or without dystonia616763C4225213OMIM040829515611893
HP:0001332HP:0000643Blepharospasm3RNASEH2B CL E G H79621610181Aicardi Goutieres syndrome 2610181C3489724OMIM042625671610326
HP:0001332HP:0000473Torticollis3RNASEH2B CL E G H79621610181Aicardi Goutieres syndrome 2610181C3489724OMIM042625671610326
HP:0001332HP:0031008Lingual dystonia3RNASEH2B CL E G H79621610181Aicardi Goutieres syndrome 2610181C3489724OMIM042625671610326
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3RNASEH2B CL E G H79621610181Aicardi Goutieres syndrome 2610181C3489724OMIM042625671610326
HP:0001332HP:0012048Oromandibular dystonia3RNASEH2B CL E G H79621610181Aicardi Goutieres syndrome 2610181C3489724OMIM042625671610326
HP:0001332HP:0000643Blepharospasm3RNASET2 CL E G H8635612951Leukoencephalopathy, cystic, without megalencephaly612951C2751843OMIM019921686612944
HP:0001332HP:0000473Torticollis3RNASET2 CL E G H8635612951Leukoencephalopathy, cystic, without megalencephaly612951C2751843OMIM019921686612944
HP:0001332HP:0031008Lingual dystonia3RNASET2 CL E G H8635612951Leukoencephalopathy, cystic, without megalencephaly612951C2751843OMIM019921686612944
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3RNASET2 CL E G H8635612951Leukoencephalopathy, cystic, without megalencephaly612951C2751843OMIM019921686612944
HP:0001332HP:0012048Oromandibular dystonia3RNASET2 CL E G H8635612951Leukoencephalopathy, cystic, without megalencephaly612951C2751843OMIM019921686612944
HP:0001332HP:0000643Blepharospasm3SETX CL E G H2306464753ORPHA01556445608465
HP:0001332HP:0000473Torticollis3SETX CL E G H2306464753ORPHA01556445608465
HP:0001332HP:0031008Lingual dystonia3SETX CL E G H2306464753ORPHA01556445608465
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3SETX CL E G H2306464753ORPHA01556445608465
HP:0001332HP:0012048Oromandibular dystonia3SETX CL E G H2306464753ORPHA01556445608465
HP:0001332HP:0000643Blepharospasm3SETX CL E G H23064606002Spinocerebellar ataxia autosomal recessive 1606002C1853761OMIM01556445608465
HP:0001332HP:0000473Torticollis3SETX CL E G H23064606002Spinocerebellar ataxia autosomal recessive 1606002C1853761OMIM01556445608465
HP:0001332HP:0031008Lingual dystonia3SETX CL E G H23064606002Spinocerebellar ataxia autosomal recessive 1606002C1853761OMIM01556445608465
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3SETX CL E G H23064606002Spinocerebellar ataxia autosomal recessive 1606002C1853761OMIM01556445608465
HP:0001332HP:0012048Oromandibular dystonia3SETX CL E G H23064606002Spinocerebellar ataxia autosomal recessive 1606002C1853761OMIM01556445608465
HP:0001332HP:0000643Blepharospasm3SNCA CL E G H6622411602ORPHA019311138163890
HP:0001332HP:0000473Torticollis3SNCA CL E G H6622411602ORPHA019311138163890
HP:0001332HP:0031008Lingual dystonia3SNCA CL E G H6622411602ORPHA019311138163890
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3SNCA CL E G H6622411602ORPHA019311138163890
HP:0001332HP:0012048Oromandibular dystonia3SNCA CL E G H6622411602ORPHA019311138163890
HP:0001332HP:0000643Blepharospasm3TAF1 CL E G H6872300966Mental retardation, X-linked, syndromic 33300966C4225418OMIM053411535313650
HP:0001332HP:0000473Torticollis3TAF1 CL E G H6872300966Mental retardation, X-linked, syndromic 33300966C4225418OMIM053411535313650
HP:0001332HP:0031008Lingual dystonia3TAF1 CL E G H6872300966Mental retardation, X-linked, syndromic 33300966C4225418OMIM053411535313650
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3TAF1 CL E G H6872300966Mental retardation, X-linked, syndromic 33300966C4225418OMIM053411535313650
HP:0001332HP:0012048Oromandibular dystonia3TAF1 CL E G H6872300966Mental retardation, X-linked, syndromic 33300966C4225418OMIM053411535313650
HP:0001332HP:0000643Blepharospasm3TANGO2 CL E G H128989616878TANGO2-Related Metabolic Encephalopathy and Arrhythmias616878C4225171OMIM071525439616830
HP:0001332HP:0000473Torticollis3TANGO2 CL E G H128989616878TANGO2-Related Metabolic Encephalopathy and Arrhythmias616878C4225171OMIM071525439616830
HP:0001332HP:0031008Lingual dystonia3TANGO2 CL E G H128989616878TANGO2-Related Metabolic Encephalopathy and Arrhythmias616878C4225171OMIM071525439616830
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3TANGO2 CL E G H128989616878TANGO2-Related Metabolic Encephalopathy and Arrhythmias616878C4225171OMIM071525439616830
HP:0001332HP:0012048Oromandibular dystonia3TANGO2 CL E G H128989616878TANGO2-Related Metabolic Encephalopathy and Arrhythmias616878C4225171OMIM071525439616830
HP:0001332HP:0000643Blepharospasm3TTBK2 CL E G H14605798767ORPHA033819141611695
HP:0001332HP:0000473Torticollis3TTBK2 CL E G H14605798767ORPHA033819141611695
HP:0001332HP:0031008Lingual dystonia3TTBK2 CL E G H14605798767ORPHA033819141611695
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3TTBK2 CL E G H14605798767ORPHA033819141611695
HP:0001332HP:0012048Oromandibular dystonia3TTBK2 CL E G H14605798767ORPHA033819141611695
HP:0001332HP:0000643Blepharospasm3TTPA CL E G H727496ORPHA038912404600415
HP:0001332HP:0000473Torticollis3TTPA CL E G H727496ORPHA038912404600415
HP:0001332HP:0031008Lingual dystonia3TTPA CL E G H727496ORPHA038912404600415
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3TTPA CL E G H727496ORPHA038912404600415
HP:0001332HP:0012048Oromandibular dystonia3TTPA CL E G H727496ORPHA038912404600415
HP:0001332HP:0000643Blepharospasm3VAMP1 CL E G H6843251282ORPHA014112642185880
HP:0001332HP:0000473Torticollis3VAMP1 CL E G H6843251282ORPHA014112642185880
HP:0001332HP:0031008Lingual dystonia3VAMP1 CL E G H6843251282ORPHA014112642185880
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3VAMP1 CL E G H6843251282ORPHA014112642185880
HP:0001332HP:0012048Oromandibular dystonia3VAMP1 CL E G H6843251282ORPHA014112642185880
HP:0001332HP:0000643Blepharospasm3VPS35 CL E G H55737411602ORPHA022813487601501
HP:0001332HP:0000473Torticollis3VPS35 CL E G H55737411602ORPHA022813487601501
HP:0001332HP:0031008Lingual dystonia3VPS35 CL E G H55737411602ORPHA022813487601501
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3VPS35 CL E G H55737411602ORPHA022813487601501
HP:0001332HP:0012048Oromandibular dystonia3VPS35 CL E G H55737411602ORPHA022813487601501
HP:0001332HP:0000643Blepharospasm3VPS37A CL E G H137492614898Spastic paraplegia 53, autosomal recessive614898C3539494OMIM025924928609927
HP:0001332HP:0000473Torticollis3VPS37A CL E G H137492614898Spastic paraplegia 53, autosomal recessive614898C3539494OMIM025924928609927
HP:0001332HP:0031008Lingual dystonia3VPS37A CL E G H137492614898Spastic paraplegia 53, autosomal recessive614898C3539494OMIM025924928609927
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3VPS37A CL E G H137492614898Spastic paraplegia 53, autosomal recessive614898C3539494OMIM025924928609927
HP:0001332HP:0012048Oromandibular dystonia3VPS37A CL E G H137492614898Spastic paraplegia 53, autosomal recessive614898C3539494OMIM025924928609927
HP:0001332HP:0000643Blepharospasm3WDR73 CL E G H84942251300Galloway-Mowat syndrome 1251300CN031715OMIM022025928616144
HP:0001332HP:0000473Torticollis3WDR73 CL E G H84942251300Galloway-Mowat syndrome 1251300CN031715OMIM022025928616144
HP:0001332HP:0031008Lingual dystonia3WDR73 CL E G H84942251300Galloway-Mowat syndrome 1251300CN031715OMIM022025928616144
HP:0001332HP:0031007Orofacial action-specific dystonia induced by speech3WDR73 CL E G H84942251300Galloway-Mowat syndrome 1251300CN031715OMIM022025928616144
HP:0001332HP:0012048Oromandibular dystonia3WDR73 CL E G H84942251300Galloway-Mowat syndrome 1251300CN031715OMIM022025928616144
HP:0001332HP:0002544Retrocollis4AFG3L2 CL E G H10939610246Spinocerebellar ataxia 28610246C1853249OMIM0480315604581
HP:0001332HP:0002544Retrocollis4AGTPBP1 CL E G H23287618276618276618276OMIM010517258606830
HP:0001332HP:0002544Retrocollis4ALS2 CL E G H57679205100Amyotrophic lateral sclerosis type 2205100C1859807OMIM0947443606352
HP:0001332HP:0002544Retrocollis4ATP1A3 CL E G H4781171ORPHA0993801182350
HP:0001332HP:0002544Retrocollis4ATXN3 CL E G H4287109150Azorean disease109150C0024408OMIM0657106607047
HP:0001332HP:0002544Retrocollis4AUH CL E G H54967046ORPHA0249890600529
HP:0001332HP:0002544Retrocollis4B4GALNT1 CL E G H2583101006ORPHA02954117601873
HP:0001332HP:0002544Retrocollis4C9orf72 CL E G H203228401901ORPHA017728337614260
HP:0001332HP:0002544Retrocollis4COQ8A CL E G H56997139485ORPHA069916812606980
HP:0001332HP:0002544Retrocollis4CYP2U1 CL E G H113612320411ORPHA029120582610670
HP:0001332HP:0002544Retrocollis4DNAJC13 CL E G H23317411602ORPHA023730343614334
HP:0001332HP:0002544Retrocollis4DNAJC19 CL E G H13111866634ORPHA014230528608977
HP:0001332HP:0002544Retrocollis4DNAJC6 CL E G H9829615528Parkinson disease 19a, juvenile-onset615528C3809811OMIM031015469608375
HP:0001332HP:0002544Retrocollis4EIF4G1 CL E G H1981411602ORPHA01473296600495
HP:0001332HP:0002544Retrocollis4EMC1 CL E G H23065616875Cerebellar atrophy, visual impairment, and psychomotor retardation616875C4225172OMIM093828957616846
HP:0001332HP:0002544Retrocollis4FBXL4 CL E G H26235615471Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)615471C3809592OMIM056613601605654
HP:0001332HP:0002544Retrocollis4FXN CL E G H239595ORPHA01583951606829
HP:0001332HP:0002544Retrocollis4GBA CL E G H2629411602ORPHA04177606463
HP:0001332HP:0002544Retrocollis4GIGYF2 CL E G H26058411602ORPHA033811960612003
HP:0001332HP:0002544Retrocollis4GNAO1 CL E G H2775615473Early infantile epileptic encephalopathy 17615473C3809606OMIM04294389139311
HP:0001332HP:0002544Retrocollis4GRIK2 CL E G H2898611092Mental retardation, autosomal recessive 6611092C1970198OMIM01894580138244
HP:0001332HP:0002544Retrocollis4HACE1 CL E G H57531616756Spastic paraplegia and psychomotor retardation with or without seizures616756C4225215OMIM022721033610876
HP:0001332HP:0002544Retrocollis4JPH3 CL E G H5733898934ORPHA017614203605268
HP:0001332HP:0002544Retrocollis4KAT6A CL E G H7994457193ORPHA0105113013601408
HP:0001332HP:0002544Retrocollis4LRRK2 CL E G H120892411602ORPHA0294818618609007
HP:0001332HP:0002544Retrocollis4MICU1 CL E G H10367615673Myopathy with extrapyramidal signs615673C3810285OMIM02651530605084
HP:0001332HP:0002544Retrocollis4MMUT CL E G H4594289916ORPHA08967526609058
HP:0001332HP:0002544Retrocollis4MT-CO1 CL E G H4512550ORPHA07419516030
HP:0001332HP:0002544Retrocollis4MT-CO2 CL E G H4513550ORPHA07421516040
HP:0001332HP:0002544Retrocollis4MT-CO3 CL E G H4514550ORPHA07422516050
HP:0001332HP:0002544Retrocollis4MT-ND1 CL E G H4535550ORPHA07455516000
HP:0001332HP:0002544Retrocollis4MT-ND4 CL E G H4538550ORPHA07459516003
HP:0001332HP:0002544Retrocollis4MT-ND5 CL E G H4540550ORPHA07461516005
HP:0001332HP:0002544Retrocollis4MT-ND6 CL E G H4541550ORPHA07462516006
HP:0001332HP:0002544Retrocollis4MT-TF CL E G H4558550ORPHA07481590070
HP:0001332HP:0002544Retrocollis4MT-TH CL E G H4564550ORPHA07487590040
HP:0001332HP:0002544Retrocollis4MT-TL1 CL E G H4567550ORPHA07490590050
HP:0001332HP:0002544Retrocollis4MT-TQ CL E G H4572550ORPHA07495590030
HP:0001332HP:0002544Retrocollis4MT-TS1 CL E G H4574550ORPHA07497590080
HP:0001332HP:0002544Retrocollis4MT-TS2 CL E G H4575550ORPHA07498590085
HP:0001332HP:0002544Retrocollis4MT-TW CL E G H4578550ORPHA07501590095
HP:0001332HP:0002544Retrocollis4MTO1 CL E G H25821614702Combined oxidative phosphorylation deficiency 10614702C3553529OMIM063819261614667
HP:0001332HP:0002544Retrocollis4OFD1 CL E G H84812750ORPHA010202567300170
HP:0001332HP:0002544Retrocollis4PIK3R5 CL E G H2353364753ORPHA09030035611317
HP:0001332HP:0002544Retrocollis4PLEKHG2 CL E G H64857616763Leukodystrophy and acquired microcephaly with or without dystonia616763C4225213OMIM040829515611893
HP:0001332HP:0002544Retrocollis4RNASEH2B CL E G H79621610181Aicardi Goutieres syndrome 2610181C3489724OMIM042625671610326
HP:0001332HP:0002544Retrocollis4RNASET2 CL E G H8635612951Leukoencephalopathy, cystic, without megalencephaly612951C2751843OMIM019921686612944
HP:0001332HP:0002544Retrocollis4SETX CL E G H2306464753ORPHA01556445608465
HP:0001332HP:0002544Retrocollis4SETX CL E G H23064606002Spinocerebellar ataxia autosomal recessive 1606002C1853761OMIM01556445608465
HP:0001332HP:0002544Retrocollis4SNCA CL E G H6622411602ORPHA019311138163890
HP:0001332HP:0002544Retrocollis4TAF1 CL E G H6872300966Mental retardation, X-linked, syndromic 33300966C4225418OMIM053411535313650
HP:0001332HP:0002544Retrocollis4TANGO2 CL E G H128989616878TANGO2-Related Metabolic Encephalopathy and Arrhythmias616878C4225171OMIM071525439616830
HP:0001332HP:0002544Retrocollis4TTBK2 CL E G H14605798767ORPHA033819141611695
HP:0001332HP:0002544Retrocollis4TTPA CL E G H727496ORPHA038912404600415
HP:0001332HP:0002544Retrocollis4VAMP1 CL E G H6843251282ORPHA014112642185880
HP:0001332HP:0002544Retrocollis4VPS35 CL E G H55737411602ORPHA022813487601501
HP:0001332HP:0002544Retrocollis4VPS37A CL E G H137492614898Spastic paraplegia 53, autosomal recessive614898C3539494OMIM025924928609927
HP:0001332HP:0002544Retrocollis4WDR73 CL E G H84942251300Galloway-Mowat syndrome 1251300CN031715OMIM022025928616144


Genes (333) :AARS AARS2 ACER3 ACOX1 ACTA1 ACTB ADAR ADCY5 ADRA2B AFG3L2 AGTPBP1 ALDH18A1 ALDH6A1 ALS2 ANO3 AP3D1 AP4B1 AP4E1 AP4M1 AP4S1 APTX ARSA ARV1 ARX ATM ATN1 ATP13A2 ATP1A2 ATP1A3 ATP6 ATP7B ATXN1 ATXN2 ATXN3 ATXN8 ATXN8OS AUH B4GALNT1 BCAP31 BCS1L BSCL2 C19ORF12 C19orf12 C9ORF72 CACNA1A CACNA1B CACNA1E CACNA1G CARS2 CASR CHMP2B CHN1 CHRNA2 CIZ1 CKAP2L CNTNAP1 COASY COL12A1 COL25A1 COL4A1 COL6A1 COL6A2 COL6A3 COLEC11 COQ2 COQ8A COQ9 COX1 COX10 COX15 COX2 COX3 CP CTC1 CWF19L1 CYP27A1 CYP2U1 CYTB DCAF17 DDC DHDDS DHX30 DLAT DLD DMXL2 DNAJC12 DNAJC13 DNAJC19 DNAJC6 DRD2 EARS2 ECHS1 ECM1 EIF4G1 EMC1 EPRS FA2H FBXL4 FBXO7 FGFR2 FGFR3 FLI1 FOXG1 FOXRED1 FTL FXN GABBR2 GABRB2 GBA GCDH GCH1 GIGYF2 GJC2 GLB1 GM2A GNA11 GNAL GNAO1 GNAS GRIK2 GRIN1 GRIN2B GTPBP2 HACE1 HIBCH HINT1 HPCA HPRT1 HSPG2 HTRA2 HTT IFIH1 IRF2BPL JPH3 KAT6A KCNA1 KCNC3 KCNQ2 KCTD17 KIF1C KMT2B LIPT1 LIPT2 LRRK2 MAFB MAPT MARS2 MAT1A MCOLN1 MDH2 MECP2 MECR MICU1 MMADHC MMUT MPV17 MRE11 MRPS34 MT-ATP6 MT-CO3 MT-CYB MT-ND1 MT-ND2 MT-ND4 MT-ND4L MT-ND5 MT-ND6 MTFMT MTO1 NAA10 NADK2 ND1 ND2 ND4 ND4L ND5 ND6 NDUFA10 NDUFA12 NDUFA13 NDUFA2 NDUFA4 NDUFA9 NDUFAF2 NDUFAF4 NDUFAF5 NDUFAF6 NDUFS1 NDUFS2 NDUFS3 NDUFS4 NDUFS7 NDUFS8 NDUFV1 NDUFV2 NEK9 NHLRC2 NKX2-1 NKX6-2 NPC1 NPC2 NR4A2 NUP62 OFD1 PANK2 PARK7 PCCA PCCB PCDH12 PDGFB PDGFRB PDHA1 PDHX PET100 PIK3R5 PINK1 PLA2G6 PLAA PLEKHG2 PLP1 PMPCB PNKD PNKP PNPLA8 PNPT1 PODXL POLR1C POLR1D POLR3A POLR3B PPP2R2B PRKCG PRKN PRKRA PRRT2 PSAP PSEN1 PTS QDPR RAB11B RARS RHOBTB2 RNASEH2A RNASEH2B RNASEH2C RNASET2 SAMHD1 SCN4A SCP2 SDHA SDHAF1 SDHD SERAC1 SETX SGCE SLC18A2 SLC19A3 SLC20A2 SLC2A1 SLC30A10 SLC30A9 SLC39A14 SLC6A3 SLC6A8 SLC9A6 SNCA SNCAIP SNORD118 SPR SQSTM1 STN1 STX16 SUCLA2 SUOX SURF1 SYNGAP1 SYNJ1 SYT1 TACO1 TAF1 TANGO2 TBC1D24 TBP TCOF1 TGM6 TH THAP1 TIMM8A TMEM106B TOR1A TPI1 TPK1 TRAPPC11 TRAPPC12 TREX1 TRIT1 TRNF TRNH TRNL1 TRNQ TRNS1 TRNS2 TRNW TRPV4 TSEN2 TSEN34 TSFM TTBK2 TTC19 TTPA TUBB3 TUBB4A TWIST1 TXN2 UBA5 UBQLN2 UBTF UFM1 UPB1 UQCRQ VAC14 VAMP1 VCP VPS13A VPS13C VPS13D VPS35 VPS37A WARS2 WDR45 WDR73 YY1 ZC4H2

Diseases (364) :615889 617762 264470 225154 51 615010 324588 606703 313772 614487 610246 618276 614105 205100 617050 280763 614066 208920 309271 309263 309256 250100 617020 308350 208900 314632 513436 104290 1171 614820 601338 535000 277900 98755 98756 276241 276244 276238 109150 98760 67046 250950 101006 609195 300475 256000 615924 289560 401901 108500 618285 618087 616672 600795 610353 272440 618186 139485 614654 550 255241 612199 453521 909 320411 3464 241080 617836 617804 246900 616113 411602 66634 391411 615528 614924 616277 530 616875 617951 612319 615471 171695 260300 613454 157846 95 617903 617829 77260 25 231670 233910 608804 230650 309246 272750 615473 617493 611092 617820 616139 613970 617988 464282 616756 250620 300322 617248 248111 617435 615846 618088 98934 606438 457193 439218 613720 616299 617668 314603 611390 250850 252650 617339 778 312750 401768 615673 277410 289916 79312 256810 251347 604391 617664 614702 431361 616034 618244 618247 618237 618238 618239 618226 618230 618224 618222 618278 610978 527497 617560 257220 607625 168600 271930 2750 607236 606054 251280 213600 312170 245349 64753 605909 610217 612953 521426 616763 312080 617954 616267 251950 614932 447896 607694 600116 139406 607822 261640 261630 617807 438114 618004 610333 610181 610329 612951 252011 614739 606002 607483 71277 53583 601042 612126 309854 613280 617595 52503 300352 85278 168601 614561 612716 617145 617341 612073 616684 615530 618218 300966 616878 352596 615338 607136 304700 617964 615512 614458 615356 617669 225750 617873 612389 612390 610505 98767 615157 96 612438 616811 617132 300857 617672 617899 613161 615159 251282 108600 167320 2388 200150 607317 614898 617710 329284 300894 251300 617557 314580 79107 607371 41 101109 447757 420485 309510 306674 71517 363400 614860 420492 3255 175780 464440 98933 227510 608643 245348 617384 171629 98808 329466 615073 614254 99657 224500 601104 216866 216873 199351 118800 604326 605361 210571 612067 98811 128200 602066 13 352649 618049 606777 238455 613135 70594 272300 53351 314250 101150 605407 98806 602629 128100 98805 128101 616840 319199 428 616411 36899 606159 128230 94089 79444 79443 324442 98809 616398 617284 617282 159900 98759 617054 616339 97240 607876 615034 101 606693 128235 614298 97 71518 98758 233 397725 615643 75840 610 158810 254090 265050 48818 794 370348 800 98768 397946 276432 617022 234200 606324 98810 861 99734 613724 617013 612621 276193 613908 181405 300570
 

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