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 failure615889C4014588OMIM133821022612035
HP:0001332HP:0001332Dystonia0AARS2 CL E G H57505615889Leukoencephalopathy, progressive, with ovarian failure615889C4014588OMIM138721022612035
HP:0001332HP:0001332Dystonia0ACER3 CL E G H55331617762LEUKODYSTROPHY, PROGRESSIVE, EARLY CHILDHOOD-ONSET617762C4540358OMIM12716066617036
HP:0001332HP:0001332Dystonia0ACER3 CL E G H55331617762LEUKODYSTROPHY, PROGRESSIVE, EARLY CHILDHOOD-ONSET617762C4540358OMIM13816066617036
HP:0001332HP:0001332Dystonia0ACOX1 CL E G H51264470Pseudoneonatal adrenoleukodystrophy264470C1849678OMIM1388119609751
HP:0001332HP:0001332Dystonia0ACOX1 CL E G H51264470Pseudoneonatal adrenoleukodystrophy264470C1849678OMIM1435119609751
HP:0001332HP:0001332Dystonia0ADAR CL E G H10351ORPHA1471225146920
HP:0001332HP:0001332Dystonia0ADAR CL E G H10351ORPHA1654225146920
HP:0001332HP:0001332Dystonia0ADAR CL E G H103225154ORPHA1471225146920
HP:0001332HP:0001332Dystonia0ADAR CL E G H103225154ORPHA1654225146920
HP:0001332HP:0001332Dystonia0ADAR CL E G H103615010Aicardi-Goutieres syndrome 6615010C3539013OMIM1471225146920
HP:0001332HP:0001332Dystonia0ADAR CL E G H103615010Aicardi-Goutieres syndrome 6615010C3539013OMIM1654225146920
HP:0001332HP:0001332Dystonia0ADCY5 CL E G H111324588ORPHA1293236600293
HP:0001332HP:0001332Dystonia0ADCY5 CL E G H111324588ORPHA1365236600293
HP:0001332HP:0001332Dystonia0ADCY5 CL E G H111606703Dyskinesia, familial, with facial myokymia606703C1847627OMIM1293236600293
HP:0001332HP:0001332Dystonia0ADCY5 CL E G H111606703Dyskinesia, familial, with facial myokymia606703C1847627OMIM1365236600293
HP:0001332HP:0001332Dystonia0AFG3L2 CL E G H10939313772ORPHA1349315604581
HP:0001332HP:0001332Dystonia0AFG3L2 CL E G H10939313772ORPHA1357315604581
HP:0001332HP:0001332Dystonia0AFG3L2 CL E G H10939614487Spastic ataxia 5, autosomal recessive614487C3280977OMIM1349315604581
HP:0001332HP:0001332Dystonia0AFG3L2 CL E G H10939614487Spastic ataxia 5, autosomal recessive614487C3280977OMIM1357315604581
HP:0001332HP:0001332Dystonia0ALDH6A1 CL E G H4329614105Methylmalonate semialdehyde dehydrogenase deficiency614105C3279840OMIM11337179603178
HP:0001332HP:0001332Dystonia0ALDH6A1 CL E G H4329614105Methylmalonate semialdehyde dehydrogenase deficiency614105C3279840OMIM11467179603178
HP:0001332HP:0001332Dystonia0AP3D1 CL E G H8943617050Hermansky-Pudlak syndrome 10617050C4310746OMIM1226568607246
HP:0001332HP:0001332Dystonia0AP3D1 CL E G H8943617050Hermansky-Pudlak syndrome 10617050C4310746OMIM1394568607246
HP:0001332HP:0001332Dystonia0AP4B1 CL E G H10717280763ORPHA1189572607245
HP:0001332HP:0001332Dystonia0AP4B1 CL E G H10717280763ORPHA1254572607245
HP:0001332HP:0001332Dystonia0AP4B1 CL E G H10717614066Spastic paraplegia 47, autosomal recessive614066C3279738OMIM1189572607245
HP:0001332HP:0001332Dystonia0AP4B1 CL E G H10717614066Spastic paraplegia 47, autosomal recessive614066C3279738OMIM1254572607245
HP:0001332HP:0001332Dystonia0AP4E1 CL E G H23431280763ORPHA1238573607244
HP:0001332HP:0001332Dystonia0AP4E1 CL E G H23431280763ORPHA1332573607244
HP:0001332HP:0001332Dystonia0AP4M1 CL E G H9179280763ORPHA1199574602296
HP:0001332HP:0001332Dystonia0AP4M1 CL E G H9179280763ORPHA1264574602296
HP:0001332HP:0001332Dystonia0AP4S1 CL E G H11154280763ORPHA189575607243
HP:0001332HP:0001332Dystonia0AP4S1 CL E G H11154280763ORPHA1110575607243
HP:0001332HP:0001332Dystonia0APTX CL E G H54840208920Ataxia-oculomotor apraxia type 1208920C1859598OMIM123615984606350
HP:0001332HP:0001332Dystonia0APTX CL E G H54840208920Ataxia-oculomotor apraxia type 1208920C1859598OMIM125815984606350
HP:0001332HP:0001332Dystonia0ARSA CL E G H410309256ORPHA1732713607574
HP:0001332HP:0001332Dystonia0ARSA CL E G H410309256ORPHA1841713607574
HP:0001332HP:0001332Dystonia0ARSA CL E G H410309263ORPHA1732713607574
HP:0001332HP:0001332Dystonia0ARSA CL E G H410309263ORPHA1841713607574
HP:0001332HP:0001332Dystonia0ARSA CL E G H410309271ORPHA1732713607574
HP:0001332HP:0001332Dystonia0ARSA CL E G H410309271ORPHA1841713607574
HP:0001332HP:0001332Dystonia0ARSA CL E G H410250100Metachromatic leukodystrophy250100C0023522OMIM1732713607574
HP:0001332HP:0001332Dystonia0ARSA CL E G H410250100Metachromatic leukodystrophy250100C0023522OMIM1841713607574
HP:0001332HP:0001332Dystonia0ARV1 CL E G H64801617020Epileptic encephalopathy, early infantile, 38617020C4310762OMIM16229561611647
HP:0001332HP:0001332Dystonia0ARV1 CL E G H64801617020Epileptic encephalopathy, early infantile, 38617020C4310762OMIM16529561611647
HP:0001332HP:0001332Dystonia0ARX CL E G H170302308350Epileptic encephalopathy, early infantile, 1308350C3463992OMIM156518060300382
HP:0001332HP:0001332Dystonia0ARX CL E G H170302308350Epileptic encephalopathy, early infantile, 1308350C3463992OMIM162418060300382
HP:0001332HP:0001332Dystonia0ATM CL E G H472208900Ataxia-telangiectasia syndrome208900C0004135OMIM110320795607585
HP:0001332HP:0001332Dystonia0ATM CL E G H472208900Ataxia-telangiectasia syndrome208900C0004135OMIM111382795607585
HP:0001332HP:0001332Dystonia0ATP13A2 CL E G H23400314632ORPHA148730213610513
HP:0001332HP:0001332Dystonia0ATP13A2 CL E G H23400314632ORPHA160930213610513
HP:0001332HP:0001332Dystonia0ATP13A2 CL E G H23400513436ORPHA148730213610513
HP:0001332HP:0001332Dystonia0ATP13A2 CL E G H23400513436ORPHA160930213610513
HP:0001332HP:0001332Dystonia0ATP1A2 CL E G H477104290Alternating hemiplegia of childhood 1104290C3549447OMIM1726800182340
HP:0001332HP:0001332Dystonia0ATP1A2 CL E G H477104290Alternating hemiplegia of childhood 1104290C3549447OMIM1801800182340
HP:0001332HP:0001332Dystonia0ATP1A3 CL E G H478614820Alternating hemiplegia of childhood 2614820C3553788OMIM1625801182350
HP:0001332HP:0001332Dystonia0ATP1A3 CL E G H478614820Alternating hemiplegia of childhood 2614820C3553788OMIM1687801182350
HP:0001332HP:0001332Dystonia0ATP1A3 CL E G H478601338Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss601338C1832466OMIM1625801182350
HP:0001332HP:0001332Dystonia0ATP1A3 CL E G H478601338Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss601338C1832466OMIM1687801182350
HP:0001332HP:0001332Dystonia0ATP7B CL E G H540277900Wilson disease277900C0019202OMIM11389870606882
HP:0001332HP:0001332Dystonia0ATP7B CL E G H540277900Wilson disease277900C0019202OMIM11579870606882
HP:0001332HP:0001332Dystonia0ATXN1 CL E G H631098755ORPHA17610548601556
HP:0001332HP:0001332Dystonia0ATXN1 CL E G H631098755ORPHA17810548601556
HP:0001332HP:0001332Dystonia0ATXN2 CL E G H631198756ORPHA15010555601517
HP:0001332HP:0001332Dystonia0ATXN2 CL E G H631198756ORPHA15210555601517
HP:0001332HP:0001332Dystonia0ATXN3 CL E G H4287276238ORPHA1447106607047
HP:0001332HP:0001332Dystonia0ATXN3 CL E G H4287276241ORPHA1447106607047
HP:0001332HP:0001332Dystonia0ATXN3 CL E G H4287276244ORPHA1447106607047
HP:0001332HP:0001332Dystonia0ATXN8 CL E G H72406698760ORPHA1232925613289
HP:0001332HP:0001332Dystonia0ATXN8OS CL E G H631598760ORPHA17210561603680
HP:0001332HP:0001332Dystonia0ATXN8OS CL E G H631598760ORPHA17610561603680
HP:0001332HP:0001332Dystonia0AUH CL E G H5492509503-Methylglutaconic aciduria type 1250950C0342727OMIM1145890600529
HP:0001332HP:0001332Dystonia0AUH CL E G H5492509503-Methylglutaconic aciduria type 1250950C0342727OMIM1177890600529
HP:0001332HP:0001332Dystonia0B4GALNT1 CL E G H2583609195Spastic paraplegia 26609195C1836632OMIM11484117601873
HP:0001332HP:0001332Dystonia0B4GALNT1 CL E G H2583609195Spastic paraplegia 26609195C1836632OMIM11694117601873
HP:0001332HP:0001332Dystonia0BCAP31 CL E G H10134300475Chromosome Xq28 deletion syndrome300475C1845408OMIM128216695300398
HP:0001332HP:0001332Dystonia0BCAP31 CL E G H10134300475Chromosome Xq28 deletion syndrome300475C1845408OMIM130116695300398
HP:0001332HP:0001332Dystonia0BCS1L CL E G H617256000Leigh syndrome256000C0023264OMIM12491020603647
HP:0001332HP:0001332Dystonia0BCS1L CL E G H617256000Leigh syndrome256000C0023264OMIM12791020603647
HP:0001332HP:0001332Dystonia0BSCL2 CL E G H26580615924Encephalopathy, progressive, with or without lipodystrophy615924C4014700OMIM133015832606158
HP:0001332HP:0001332Dystonia0BSCL2 CL E G H26580615924Encephalopathy, progressive, with or without lipodystrophy615924C4014700OMIM137315832606158
HP:0001332HP:0001332Dystonia0C19orf12 CL E G H83636289560ORPHA124025443614297
HP:0001332HP:0001332Dystonia0C19orf12 CL E G H83636289560ORPHA124825443614297
HP:0001332HP:0001332Dystonia0CACNA1A CL E G H773108500Episodic ataxia type 2108500C1720416OMIM120471388601011
HP:0001332HP:0001332Dystonia0CACNA1A CL E G H773108500Episodic ataxia type 2108500C1720416OMIM123261388601011
HP:0001332HP:0001332Dystonia0CACNA1E CL E G H777618285618285618285OMIM14101392601013
HP:0001332HP:0001332Dystonia0CACNA1E CL E G H777618285618285618285OMIM16431392601013
HP:0001332HP:0001332Dystonia0CACNA1G CL E G H8913618087SPINOCEREBELLAR ATAXIA 42, EARLY-ONSET, SEVERE, WITH NEURODEVELOPMENTAL DEFICITS618087CN252698OMIM13571394604065
HP:0001332HP:0001332Dystonia0CACNA1G CL E G H8913618087SPINOCEREBELLAR ATAXIA 42, EARLY-ONSET, SEVERE, WITH NEURODEVELOPMENTAL DEFICITS618087CN252698OMIM13741394604065
HP:0001332HP:0001332Dystonia0CARS2 CL E G H79587616672Combined oxidative phosphorylation deficiency 27616672C4225251OMIM153125695612800
HP:0001332HP:0001332Dystonia0CARS2 CL E G H79587616672Combined oxidative phosphorylation deficiency 27616672C4225251OMIM162525695612800
HP:0001332HP:0001332Dystonia0CHMP2B CL E G H25978600795Frontotemporal Dementia, Chromosome 3-Linked600795C1833296OMIM111024537609512
HP:0001332HP:0001332Dystonia0CHMP2B CL E G H25978600795Frontotemporal Dementia, Chromosome 3-Linked600795C1833296OMIM113024537609512
HP:0001332HP:0001332Dystonia0CHRNA2 CL E G H1135610353Epilepsy, nocturnal frontal lobe, type 4610353C1835905OMIM15401956118502
HP:0001332HP:0001332Dystonia0CHRNA2 CL E G H1135610353Epilepsy, nocturnal frontal lobe, type 4610353C1835905OMIM15891956118502
HP:0001332HP:0001332Dystonia0CKAP2L CL E G H150468272440Filippi syndrome272440C0795940OMIM17826877616174
HP:0001332HP:0001332Dystonia0CKAP2L CL E G H150468272440Filippi syndrome272440C0795940OMIM19426877616174
HP:0001332HP:0001332Dystonia0CNTNAP1 CL E G H8506618186Congenital hypomyelinating neuropathy 3618186OMIM11588011602346
HP:0001332HP:0001332Dystonia0CNTNAP1 CL E G H8506618186Congenital hypomyelinating neuropathy 3618186OMIM12168011602346
HP:0001332HP:0001332Dystonia0COQ9 CL E G H57017614654Coenzyme Q10 deficiency, primary, 5614654C3553374OMIM112725302612837
HP:0001332HP:0001332Dystonia0COQ9 CL E G H57017614654Coenzyme Q10 deficiency, primary, 5614654C3553374OMIM116425302612837
HP:0001332HP:0001332Dystonia0COX10 CL E G H1352256000Leigh syndrome256000C0023264OMIM12472260602125
HP:0001332HP:0001332Dystonia0COX10 CL E G H1352256000Leigh syndrome256000C0023264OMIM12632260602125
HP:0001332HP:0001332Dystonia0COX15 CL E G H1355255241ORPHA12162263603646
HP:0001332HP:0001332Dystonia0COX15 CL E G H1355255241ORPHA12332263603646
HP:0001332HP:0001332Dystonia0COX15 CL E G H1355256000Leigh syndrome256000C0023264OMIM12162263603646
HP:0001332HP:0001332Dystonia0COX15 CL E G H1355256000Leigh syndrome256000C0023264OMIM12332263603646
HP:0001332HP:0001332Dystonia0CTC1 CL E G H80169612199Cerebroretinal microangiopathy with calcifications and cysts 1612199C2677299OMIM172926169613129
HP:0001332HP:0001332Dystonia0CTC1 CL E G H80169612199Cerebroretinal microangiopathy with calcifications and cysts 1612199C2677299OMIM191826169613129
HP:0001332HP:0001332Dystonia0CWF19L1 CL E G H55280453521ORPHA15925613616120
HP:0001332HP:0001332Dystonia0CYP27A1 CL E G H1593909ORPHA14392605606530
HP:0001332HP:0001332Dystonia0CYP27A1 CL E G H1593909ORPHA15992605606530
HP:0001332HP:0001332Dystonia0DCAF17 CL E G H800673464ORPHA122925784612515
HP:0001332HP:0001332Dystonia0DCAF17 CL E G H800673464ORPHA125125784612515
HP:0001332HP:0001332Dystonia0DCAF17 CL E G H80067241080Hypogonadism, diabetes mellitus, alopecia, mental retardation and electrocardiographic abnormalities241080C0342286OMIM122925784612515
HP:0001332HP:0001332Dystonia0DCAF17 CL E G H80067241080Hypogonadism, diabetes mellitus, alopecia, mental retardation and electrocardiographic abnormalities241080C0342286OMIM125125784612515
HP:0001332HP:0001332Dystonia0DHDDS CL E G H79947617836DEVELOPMENTAL DELAY AND SEIZURES WITH OR WITHOUT MOVEMENT ABNORMALITIES617836CN769090OMIM119920603608172
HP:0001332HP:0001332Dystonia0DHDDS CL E G H79947617836DEVELOPMENTAL DELAY AND SEIZURES WITH OR WITHOUT MOVEMENT ABNORMALITIES617836CN769090OMIM125620603608172
HP:0001332HP:0001332Dystonia0DHX30 CL E G H22907617804NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT AND ABSENT LANGUAGE617804C4540496OMIM14916716616423
HP:0001332HP:0001332Dystonia0DHX30 CL E G H22907617804NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT AND ABSENT LANGUAGE617804C4540496OMIM15816716616423
HP:0001332HP:0001332Dystonia0DLD CL E G H1738246900Maple syrup urine disease, type 3246900CN043137OMIM13292898238331
HP:0001332HP:0001332Dystonia0DLD CL E G H1738246900Maple syrup urine disease, type 3246900CN043137OMIM13552898238331
HP:0001332HP:0001332Dystonia0DMXL2 CL E G H23312616113Polyendocrine-polyneuropathy syndrome616113C4015261OMIM11612938612186
HP:0001332HP:0001332Dystonia0DMXL2 CL E G H23312616113Polyendocrine-polyneuropathy syndrome616113C4015261OMIM13062938612186
HP:0001332HP:0001332Dystonia0DNAJC6 CL E G H9829391411ORPHA117315469608375
HP:0001332HP:0001332Dystonia0DNAJC6 CL E G H9829391411ORPHA121515469608375
HP:0001332HP:0001332Dystonia0EARS2 CL E G H124454614924Combined oxidative phosphorylation deficiency 12614924C3554079OMIM120729419612799
HP:0001332HP:0001332Dystonia0EARS2 CL E G H124454614924Combined oxidative phosphorylation deficiency 12614924C3554079OMIM123529419612799
HP:0001332HP:0001332Dystonia0ECHS1 CL E G H1892255241ORPHA12413151602292
HP:0001332HP:0001332Dystonia0ECHS1 CL E G H1892255241ORPHA13013151602292
HP:0001332HP:0001332Dystonia0ECHS1 CL E G H1892616277Mitochondrial short-chain enoyl-coa hydratase 1 deficiency616277C4225391OMIM12413151602292
HP:0001332HP:0001332Dystonia0ECHS1 CL E G H1892616277Mitochondrial short-chain enoyl-coa hydratase 1 deficiency616277C4225391OMIM13013151602292
HP:0001332HP:0001332Dystonia0ECM1 CL E G H1893530Acute myeloblastic leukemia type 5ORPHA1763153602201
HP:0001332HP:0001332Dystonia0ECM1 CL E G H1893530Acute myeloblastic leukemia type 5ORPHA1773153602201
HP:0001332HP:0001332Dystonia0EPRS CL E G H2058617951LEUKODYSTROPHY, HYPOMYELINATING, 15617951CN244566OMIM13418138295
HP:0001332HP:0001332Dystonia0FA2H CL E G H79152612319Spastic paraplegia 35612319C3668943OMIM124121197611026
HP:0001332HP:0001332Dystonia0FA2H CL E G H79152612319Spastic paraplegia 35612319C3668943OMIM127521197611026
HP:0001332HP:0001332Dystonia0FBXO7 CL E G H25793171695ORPHA116113586605648
HP:0001332HP:0001332Dystonia0FBXO7 CL E G H25793171695ORPHA118313586605648
HP:0001332HP:0001332Dystonia0FBXO7 CL E G H25793260300Parkinson disease 15260300C1850100OMIM116113586605648
HP:0001332HP:0001332Dystonia0FBXO7 CL E G H25793260300Parkinson disease 15260300C1850100OMIM118313586605648
HP:0001332HP:0001332Dystonia0FOXG1 CL E G H2290613454Rett syndrome, congenital variant613454C3150705OMIM14913811164874
HP:0001332HP:0001332Dystonia0FOXG1 CL E G H2290613454Rett syndrome, congenital variant613454C3150705OMIM15343811164874
HP:0001332HP:0001332Dystonia0FOXRED1 CL E G H55572255241ORPHA121026927613622
HP:0001332HP:0001332Dystonia0FOXRED1 CL E G H55572255241ORPHA123126927613622
HP:0001332HP:0001332Dystonia0FTL CL E G H2512157846ORPHA11093999134790
HP:0001332HP:0001332Dystonia0FTL CL E G H2512157846ORPHA11383999134790
HP:0001332HP:0001332Dystonia0GABBR2 CL E G H9568617903NEURODEVELOPMENTAL DISORDER WITH POOR LANGUAGE AND LOSS OF HAND SKILLS617903CN870852OMIM15044507607340
HP:0001332HP:0001332Dystonia0GABBR2 CL E G H9568617903NEURODEVELOPMENTAL DISORDER WITH POOR LANGUAGE AND LOSS OF HAND SKILLS617903CN870852OMIM15574507607340
HP:0001332HP:0001332Dystonia0GABRB2 CL E G H2561617829EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 2617829CN757794OMIM13214082600232
HP:0001332HP:0001332Dystonia0GABRB2 CL E G H2561617829EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 2617829CN757794OMIM13584082600232
HP:0001332HP:0001332Dystonia0GBA CL E G H262977260ORPHA12614177606463
HP:0001332HP:0001332Dystonia0GBA CL E G H262977260ORPHA12694177606463
HP:0001332HP:0001332Dystonia0GCDH CL E G H263925ORPHA14684189608801
HP:0001332HP:0001332Dystonia0GCDH CL E G H263925ORPHA15214189608801
HP:0001332HP:0001332Dystonia0GCDH CL E G H2639231670Glutaric aciduria, type 1231670C0268595OMIM14684189608801
HP:0001332HP:0001332Dystonia0GCDH CL E G H2639231670Glutaric aciduria, type 1231670C0268595OMIM15214189608801
HP:0001332HP:0001332Dystonia0GCH1 CL E G H2643233910GTP cyclohydrolase I deficiency233910C0268467OMIM12574193600225
HP:0001332HP:0001332Dystonia0GCH1 CL E G H2643233910GTP cyclohydrolase I deficiency233910C0268467OMIM13154193600225
HP:0001332HP:0001332Dystonia0GJC2 CL E G H57165608804Leukodystrophy, hypomyelinating, 2608804C1837355OMIM117417494608803
HP:0001332HP:0001332Dystonia0GJC2 CL E G H57165608804Leukodystrophy, hypomyelinating, 2608804C1837355OMIM122117494608803
HP:0001332HP:0001332Dystonia0GLB1 CL E G H2720230650Gangliosidosis GM1 type 3230650C0268273OMIM15074298611458
HP:0001332HP:0001332Dystonia0GLB1 CL E G H2720230650Gangliosidosis GM1 type 3230650C0268273OMIM15964298611458
HP:0001332HP:0001332Dystonia0GM2A CL E G H2760309246ORPHA11424367613109
HP:0001332HP:0001332Dystonia0GM2A CL E G H2760309246ORPHA11534367613109
HP:0001332HP:0001332Dystonia0GM2A CL E G H2760272750Tay-Sachs disease, variant AB272750C0268275OMIM11424367613109
HP:0001332HP:0001332Dystonia0GM2A CL E G H2760272750Tay-Sachs disease, variant AB272750C0268275OMIM11534367613109
HP:0001332HP:0001332Dystonia0GNAO1 CL E G H2775617493Neurodevelopmental disorder with involuntary movements617493C4479569OMIM12554389139311
HP:0001332HP:0001332Dystonia0GNAO1 CL E G H2775617493Neurodevelopmental disorder with involuntary movements617493C4479569OMIM12854389139311
HP:0001332HP:0001332Dystonia0GRIN1 CL E G H2902617820NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE617820CN737161OMIM15314584138249
HP:0001332HP:0001332Dystonia0GRIN1 CL E G H2902617820NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE617820CN737161OMIM15874584138249
HP:0001332HP:0001332Dystonia0GRIN2B CL E G H2904616139Epileptic encephalopathy, early infantile, 27616139C4015316OMIM18934586138252
HP:0001332HP:0001332Dystonia0GRIN2B CL E G H2904616139Epileptic encephalopathy, early infantile, 27616139C4015316OMIM19654586138252
HP:0001332HP:0001332Dystonia0GRIN2B CL E G H2904613970Mental retardation, autosomal dominant 6613970C3151411OMIM18934586138252
HP:0001332HP:0001332Dystonia0GRIN2B CL E G H2904613970Mental retardation, autosomal dominant 6613970C3151411OMIM19654586138252
HP:0001332HP:0001332Dystonia0GTPBP2 CL E G H54676617988JABERI-ELAHI SYNDROME617988CN244943OMIM1344670607434
HP:0001332HP:0001332Dystonia0GTPBP2 CL E G H54676617988JABERI-ELAHI SYNDROME617988CN244943OMIM1504670607434
HP:0001332HP:0001332Dystonia0HACE1 CL E G H57531464282ORPHA17621033610876
HP:0001332HP:0001332Dystonia0HACE1 CL E G H57531464282ORPHA19121033610876
HP:0001332HP:0001332Dystonia0HIBCH CL E G H26275250620Beta-hydroxyisobutyryl-CoA deacylase deficiency250620C0342738OMIM11374908610690
HP:0001332HP:0001332Dystonia0HIBCH CL E G H26275250620Beta-hydroxyisobutyryl-CoA deacylase deficiency250620C0342738OMIM11534908610690
HP:0001332HP:0001332Dystonia0HPRT1 CL E G H3251300322Lesch-Nyhan syndrome300322C0023374OMIM13065157308000
HP:0001332HP:0001332Dystonia0HPRT1 CL E G H3251300322Lesch-Nyhan syndrome300322C0023374OMIM13205157308000
HP:0001332HP:0001332Dystonia0HTRA2 CL E G H274296172483-methylglutaconic aciduria, type VIII617248C4310650OMIM19614348606441
HP:0001332HP:0001332Dystonia0HTRA2 CL E G H274296172483-methylglutaconic aciduria, type VIII617248C4310650OMIM113214348606441
HP:0001332HP:0001332Dystonia0HTT CL E G H3064248111ORPHA11454851613004
HP:0001332HP:0001332Dystonia0HTT CL E G H3064248111ORPHA13934851613004
HP:0001332HP:0001332Dystonia0HTT CL E G H3064617435Lopes-Maciel-Rodan syndrome617435C4479491OMIM11454851613004
HP:0001332HP:0001332Dystonia0HTT CL E G H3064617435Lopes-Maciel-Rodan syndrome617435C4479491OMIM13934851613004
HP:0001332HP:0001332Dystonia0IFIH1 CL E G H6413551ORPHA147618873606951
HP:0001332HP:0001332Dystonia0IFIH1 CL E G H6413551ORPHA171818873606951
HP:0001332HP:0001332Dystonia0IFIH1 CL E G H64135615846Aicardi-Goutieres syndrome 7615846C3888244OMIM147618873606951
HP:0001332HP:0001332Dystonia0IFIH1 CL E G H64135615846Aicardi-Goutieres syndrome 7615846C3888244OMIM171818873606951
HP:0001332HP:0001332Dystonia0IRF2BPL CL E G H64207618088NEURODEVELOPMENTAL DISORDER WITH REGRESSION, ABNORMAL MOVEMENTS, LOSS OF SPEECH, AND SEIZURES618088CN252701OMIM110914282611720
HP:0001332HP:0001332Dystonia0IRF2BPL CL E G H64207618088NEURODEVELOPMENTAL DISORDER WITH REGRESSION, ABNORMAL MOVEMENTS, LOSS OF SPEECH, AND SEIZURES618088CN252701OMIM111614282611720
HP:0001332HP:0001332Dystonia0JPH3 CL E G H57338606438Huntington disease-like 2606438C1847987OMIM112214203605268
HP:0001332HP:0001332Dystonia0JPH3 CL E G H57338606438Huntington disease-like 2606438C1847987OMIM112314203605268
HP:0001332HP:0001332Dystonia0KCNQ2 CL E G H3785439218ORPHA113806296602235
HP:0001332HP:0001332Dystonia0KCNQ2 CL E G H3785439218ORPHA115346296602235
HP:0001332HP:0001332Dystonia0KCNQ2 CL E G H3785613720Early infantile epileptic encephalopathy 7613720C3150986OMIM113806296602235
HP:0001332HP:0001332Dystonia0KCNQ2 CL E G H3785613720Early infantile epileptic encephalopathy 7613720C3150986OMIM115346296602235
HP:0001332HP:0001332Dystonia0LIPT1 CL E G H51601255241ORPHA17329569610284
HP:0001332HP:0001332Dystonia0LIPT1 CL E G H51601255241ORPHA19029569610284
HP:0001332HP:0001332Dystonia0LIPT1 CL E G H51601616299Lipoyltransferase 1 deficiency616299C4225379OMIM17329569610284
HP:0001332HP:0001332Dystonia0LIPT1 CL E G H51601616299Lipoyltransferase 1 deficiency616299C4225379OMIM19029569610284
HP:0001332HP:0001332Dystonia0LIPT2 CL E G H387787617668ENCEPHALOPATHY, NEONATAL SEVERE, WITH LACTIC ACIDOSIS AND BRAIN ABNORMALITIES617668C4540052OMIM12737216617659
HP:0001332HP:0001332Dystonia0LIPT2 CL E G H387787617668ENCEPHALOPATHY, NEONATAL SEVERE, WITH LACTIC ACIDOSIS AND BRAIN ABNORMALITIES617668C4540052OMIM15037216617659
HP:0001332HP:0001332Dystonia0MARS2 CL E G H92935314603ORPHA19525133609728
HP:0001332HP:0001332Dystonia0MARS2 CL E G H92935314603ORPHA110925133609728
HP:0001332HP:0001332Dystonia0MARS2 CL E G H92935611390Ataxia, spastic, 3, autosomal recessive611390C1969645OMIM19525133609728
HP:0001332HP:0001332Dystonia0MARS2 CL E G H92935611390Ataxia, spastic, 3, autosomal recessive611390C1969645OMIM110925133609728
HP:0001332HP:0001332Dystonia0MAT1A CL E G H4143250850Hepatic methionine adenosyltransferase deficiency250850C0268621OMIM12316903610550
HP:0001332HP:0001332Dystonia0MAT1A CL E G H4143250850Hepatic methionine adenosyltransferase deficiency250850C0268621OMIM12576903610550
HP:0001332HP:0001332Dystonia0MCOLN1 CL E G H57192252650Mucolipidosis type IV252650C0238286OMIM141813356605248
HP:0001332HP:0001332Dystonia0MCOLN1 CL E G H57192252650Mucolipidosis type IV252650C0238286OMIM144813356605248
HP:0001332HP:0001332Dystonia0MDH2 CL E G H4191617339Epileptic encephalopathy, early infantile, 51617339C4479208OMIM1906971154100
HP:0001332HP:0001332Dystonia0MDH2 CL E G H4191617339Epileptic encephalopathy, early infantile, 51617339C4479208OMIM11696971154100
HP:0001332HP:0001332Dystonia0MECP2 CL E G H4204778ORPHA116036990300005
HP:0001332HP:0001332Dystonia0MECP2 CL E G H4204778ORPHA116846990300005
HP:0001332HP:0001332Dystonia0MECP2 CL E G H4204312750Rett syndrome312750C0035372OMIM116036990300005
HP:0001332HP:0001332Dystonia0MECP2 CL E G H4204312750Rett syndrome312750C0035372OMIM116846990300005
HP:0001332HP:0001332Dystonia0MICU1 CL E G H10367401768ORPHA11011530605084
HP:0001332HP:0001332Dystonia0MICU1 CL E G H10367401768ORPHA11351530605084
HP:0001332HP:0001332Dystonia0MMADHC CL E G H27249277410Methylmalonic acidemia with homocystinuria cblD277410C1848552OMIM117525221611935
HP:0001332HP:0001332Dystonia0MMADHC CL E G H27249277410Methylmalonic acidemia with homocystinuria cblD277410C1848552OMIM120125221611935
HP:0001332HP:0001332Dystonia0MMUT CL E G H459479312ORPHA16117526609058
HP:0001332HP:0001332Dystonia0MMUT CL E G H459479312ORPHA16847526609058
HP:0001332HP:0001332Dystonia0MPV17 CL E G H4358256810Navajo neurohepatopathy256810C1850406OMIM11557224137960
HP:0001332HP:0001332Dystonia0MPV17 CL E G H4358256810Navajo neurohepatopathy256810C1850406OMIM11707224137960
HP:0001332HP:0001332Dystonia0MRE11 CL E G H4361251347ORPHA112587230600814
HP:0001332HP:0001332Dystonia0MRE11 CL E G H4361251347ORPHA112597230600814
HP:0001332HP:0001332Dystonia0MRE11 CL E G H4361604391Ataxia-telangiectasia-like disorder 1604391C1858391OMIM112587230600814
HP:0001332HP:0001332Dystonia0MRE11 CL E G H4361604391Ataxia-telangiectasia-like disorder 1604391C1858391OMIM112597230600814
HP:0001332HP:0001332Dystonia0MRPS34 CL E G H65993617664COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 32617664C4540029OMIM16316618611994
HP:0001332HP:0001332Dystonia0MRPS34 CL E G H65993617664COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 32617664C4540029OMIM16916618611994
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 H123263255241ORPHA113229666611766
HP:0001332HP:0001332Dystonia0MTFMT CL E G H123263255241ORPHA116229666611766
HP:0001332HP:0001332Dystonia0NADK2 CL E G H133686431361ORPHA111326404615787
HP:0001332HP:0001332Dystonia0NADK2 CL E G H133686431361ORPHA114326404615787
HP:0001332HP:0001332Dystonia0NADK2 CL E G H1336866160342,4-Dienoyl-CoA reductase deficiency616034C1857252OMIM111326404615787
HP:0001332HP:0001332Dystonia0NADK2 CL E G H1336866160342,4-Dienoyl-CoA reductase deficiency616034C1857252OMIM114326404615787
HP:0001332HP:0001332Dystonia0NDUFA10 CL E G H4705255241ORPHA13367684603835
HP:0001332HP:0001332Dystonia0NDUFA10 CL E G H4705255241ORPHA13597684603835
HP:0001332HP:0001332Dystonia0NDUFA12 CL E G H55967255241ORPHA15323987614530
HP:0001332HP:0001332Dystonia0NDUFA12 CL E G H55967255241ORPHA16423987614530
HP:0001332HP:0001332Dystonia0NDUFA12 CL E G H55967618244MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 23618244OMIM15323987614530
HP:0001332HP:0001332Dystonia0NDUFA12 CL E G H55967618244MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 23618244OMIM16423987614530
HP:0001332HP:0001332Dystonia0NDUFA13 CL E G H51079255241ORPHA11817194609435
HP:0001332HP:0001332Dystonia0NDUFA13 CL E G H51079255241ORPHA11917194609435
HP:0001332HP:0001332Dystonia0NDUFA2 CL E G H4695255241ORPHA1717685602137
HP:0001332HP:0001332Dystonia0NDUFA2 CL E G H4695255241ORPHA1747685602137
HP:0001332HP:0001332Dystonia0NDUFA4 CL E G H4697255241ORPHA1707687603833
HP:0001332HP:0001332Dystonia0NDUFA4 CL E G H4697255241ORPHA1737687603833
HP:0001332HP:0001332Dystonia0NDUFA9 CL E G H4704255241ORPHA11497693603834
HP:0001332HP:0001332Dystonia0NDUFA9 CL E G H4704255241ORPHA11727693603834
HP:0001332HP:0001332Dystonia0NDUFA9 CL E G H4704618247MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 26618247OMIM11497693603834
HP:0001332HP:0001332Dystonia0NDUFA9 CL E G H4704618247MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 26618247OMIM11727693603834
HP:0001332HP:0001332Dystonia0NDUFAF2 CL E G H91942255241ORPHA110228086609653
HP:0001332HP:0001332Dystonia0NDUFAF2 CL E G H91942255241ORPHA110928086609653
HP:0001332HP:0001332Dystonia0NDUFAF4 CL E G H29078618237MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 15618237OMIM110321034611776
HP:0001332HP:0001332Dystonia0NDUFAF4 CL E G H29078618237MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 15618237OMIM110921034611776
HP:0001332HP:0001332Dystonia0NDUFAF5 CL E G H79133255241ORPHA122115899612360
HP:0001332HP:0001332Dystonia0NDUFAF5 CL E G H79133255241ORPHA122815899612360
HP:0001332HP:0001332Dystonia0NDUFAF5 CL E G H79133618238MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 16618238OMIM122115899612360
HP:0001332HP:0001332Dystonia0NDUFAF5 CL E G H79133618238MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 16618238OMIM122815899612360
HP:0001332HP:0001332Dystonia0NDUFAF6 CL E G H137682255241ORPHA116628625612392
HP:0001332HP:0001332Dystonia0NDUFAF6 CL E G H137682255241ORPHA118528625612392
HP:0001332HP:0001332Dystonia0NDUFAF6 CL E G H137682618239MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 17618239OMIM116628625612392
HP:0001332HP:0001332Dystonia0NDUFAF6 CL E G H137682618239MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 17618239OMIM118528625612392
HP:0001332HP:0001332Dystonia0NDUFS1 CL E G H4719255241ORPHA12637707157655
HP:0001332HP:0001332Dystonia0NDUFS1 CL E G H4719255241ORPHA13017707157655
HP:0001332HP:0001332Dystonia0NDUFS1 CL E G H4719618226MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 5618226OMIM12637707157655
HP:0001332HP:0001332Dystonia0NDUFS1 CL E G H4719618226MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 5618226OMIM13017707157655
HP:0001332HP:0001332Dystonia0NDUFS2 CL E G H4720255241ORPHA11397708602985
HP:0001332HP:0001332Dystonia0NDUFS2 CL E G H4720255241ORPHA11607708602985
HP:0001332HP:0001332Dystonia0NDUFS3 CL E G H4722255241ORPHA1777710603846
HP:0001332HP:0001332Dystonia0NDUFS3 CL E G H4722255241ORPHA1917710603846
HP:0001332HP:0001332Dystonia0NDUFS3 CL E G H4722618230MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 8618230OMIM1777710603846
HP:0001332HP:0001332Dystonia0NDUFS3 CL E G H4722618230MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 8618230OMIM1917710603846
HP:0001332HP:0001332Dystonia0NDUFS4 CL E G H4724255241ORPHA1977711602694
HP:0001332HP:0001332Dystonia0NDUFS4 CL E G H4724255241ORPHA11017711602694
HP:0001332HP:0001332Dystonia0NDUFS7 CL E G H374291255241ORPHA11307714601825
HP:0001332HP:0001332Dystonia0NDUFS7 CL E G H374291255241ORPHA11427714601825
HP:0001332HP:0001332Dystonia0NDUFS7 CL E G H374291618224MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 3618224OMIM11307714601825
HP:0001332HP:0001332Dystonia0NDUFS7 CL E G H374291618224MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 3618224OMIM11427714601825
HP:0001332HP:0001332Dystonia0NDUFS8 CL E G H4728255241ORPHA1827715602141
HP:0001332HP:0001332Dystonia0NDUFS8 CL E G H4728255241ORPHA1887715602141
HP:0001332HP:0001332Dystonia0NDUFS8 CL E G H4728618222MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 2618222OMIM1827715602141
HP:0001332HP:0001332Dystonia0NDUFS8 CL E G H4728618222MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 2618222OMIM1887715602141
HP:0001332HP:0001332Dystonia0NDUFV1 CL E G H4723255241ORPHA11747716161015
HP:0001332HP:0001332Dystonia0NDUFV1 CL E G H4723255241ORPHA12007716161015
HP:0001332HP:0001332Dystonia0NDUFV2 CL E G H4729255241ORPHA11637717600532
HP:0001332HP:0001332Dystonia0NDUFV2 CL E G H4729255241ORPHA11807717600532
HP:0001332HP:0001332Dystonia0NHLRC2 CL E G H374354618278618278618278OMIM133247310
HP:0001332HP:0001332Dystonia0NHLRC2 CL E G H374354618278618278618278OMIM136247310
HP:0001332HP:0001332Dystonia0NKX2-1 CL E G H7080610978Choreoathetosis, hypothyroidism, and neonatal respiratory distress610978C1970269OMIM117011825600635
HP:0001332HP:0001332Dystonia0NKX2-1 CL E G H7080610978Choreoathetosis, hypothyroidism, and neonatal respiratory distress610978C1970269OMIM119411825600635
HP:0001332HP:0001332Dystonia0NKX6-2 CL E G H84504527497ORPHA111919321605955
HP:0001332HP:0001332Dystonia0NKX6-2 CL E G H84504527497ORPHA115119321605955
HP:0001332HP:0001332Dystonia0NKX6-2 CL E G H84504617560SPASTIC ATAXIA 8, AUTOSOMAL RECESSIVE, WITH HYPOMYELINATING LEUKODYSTROPHY617560C4479653OMIM111919321605955
HP:0001332HP:0001332Dystonia0NKX6-2 CL E G H84504617560SPASTIC ATAXIA 8, AUTOSOMAL RECESSIVE, WITH HYPOMYELINATING LEUKODYSTROPHY617560C4479653OMIM115119321605955
HP:0001332HP:0001332Dystonia0NPC1 CL E G H4864257220Niemann-Pick disease type C1257220C3179455OMIM110857897607623
HP:0001332HP:0001332Dystonia0NPC1 CL E G H4864257220Niemann-Pick disease type C1257220C3179455OMIM112887897607623
HP:0001332HP:0001332Dystonia0NPC2 CL E G H10577607625Niemann-Pick disease type C2607625C1843366OMIM112714537601015
HP:0001332HP:0001332Dystonia0NPC2 CL E G H10577607625Niemann-Pick disease type C2607625C1843366OMIM114714537601015
HP:0001332HP:0001332Dystonia0NR4A2 CL E G H4929168600Parkinson disease, late-onset168600C3160718OMIM1897981601828
HP:0001332HP:0001332Dystonia0NR4A2 CL E G H4929168600Parkinson disease, late-onset168600C3160718OMIM1957981601828
HP:0001332HP:0001332Dystonia0NUP62 CL E G H23636225154ORPHA1438066605815
HP:0001332HP:0001332Dystonia0NUP62 CL E G H23636225154ORPHA1778066605815
HP:0001332HP:0001332Dystonia0NUP62 CL E G H23636271930Striatonigral degeneration infantile271930C0795996OMIM1438066605815
HP:0001332HP:0001332Dystonia0NUP62 CL E G H23636271930Striatonigral degeneration infantile271930C0795996OMIM1778066605815
HP:0001332HP:0001332Dystonia0PANK2 CL E G H80025607236Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration607236C1846582OMIM126315894606157
HP:0001332HP:0001332Dystonia0PANK2 CL E G H80025607236Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration607236C1846582OMIM133115894606157
HP:0001332HP:0001332Dystonia0PCCA CL E G H5095606054Propionyl-CoA carboxylase deficiency606054C0268579OMIM16068653232000
HP:0001332HP:0001332Dystonia0PCCA CL E G H5095606054Propionyl-CoA carboxylase deficiency606054C0268579OMIM17498653232000
HP:0001332HP:0001332Dystonia0PCCB CL E G H5096606054Propionyl-CoA carboxylase deficiency606054C0268579OMIM14808654232050
HP:0001332HP:0001332Dystonia0PCCB CL E G H5096606054Propionyl-CoA carboxylase deficiency606054C0268579OMIM16188654232050
HP:0001332HP:0001332Dystonia0PCDH12 CL E G H51294251280Microcephaly with spastic quadriplegia251280C1855055OMIM1908657605622
HP:0001332HP:0001332Dystonia0PCDH12 CL E G H51294251280Microcephaly with spastic quadriplegia251280C1855055OMIM11708657605622
HP:0001332HP:0001332Dystonia0PDGFB CL E G H5155213600Idiopathic basal ganglia calcification 1213600C0393590OMIM1938800190040
HP:0001332HP:0001332Dystonia0PDGFB CL E G H5155213600Idiopathic basal ganglia calcification 1213600C0393590OMIM1958800190040
HP:0001332HP:0001332Dystonia0PDGFRB CL E G H5159213600Idiopathic basal ganglia calcification 1213600C0393590OMIM12838804173410
HP:0001332HP:0001332Dystonia0PDGFRB CL E G H5159213600Idiopathic basal ganglia calcification 1213600C0393590OMIM13048804173410
HP:0001332HP:0001332Dystonia0PDHA1 CL E G H5160255241ORPHA15308806300502
HP:0001332HP:0001332Dystonia0PDHA1 CL E G H5160255241ORPHA15388806300502
HP:0001332HP:0001332Dystonia0PDHA1 CL E G H5160312170Pyruvate dehydrogenase E1-alpha deficiency312170C1839413OMIM15308806300502
HP:0001332HP:0001332Dystonia0PDHA1 CL E G H5160312170Pyruvate dehydrogenase E1-alpha deficiency312170C1839413OMIM15388806300502
HP:0001332HP:0001332Dystonia0PDHX CL E G H8050245349Pyruvate dehydrogenase E3-binding protein deficiency245349C1855553OMIM122921350608769
HP:0001332HP:0001332Dystonia0PDHX CL E G H8050245349Pyruvate dehydrogenase E3-binding protein deficiency245349C1855553OMIM126421350608769
HP:0001332HP:0001332Dystonia0PET100 CL E G H100131801255241ORPHA14340038614770
HP:0001332HP:0001332Dystonia0PET100 CL E G H100131801255241ORPHA15140038614770
HP:0001332HP:0001332Dystonia0PINK1 CL E G H65018605909Parkinson disease 6, autosomal recessive early-onset605909C1853833OMIM123314581608309
HP:0001332HP:0001332Dystonia0PINK1 CL E G H65018605909Parkinson disease 6, autosomal recessive early-onset605909C1853833OMIM127114581608309
HP:0001332HP:0001332Dystonia0PLA2G6 CL E G H8398610217Neurodegeneration with brain iron accumulation 2b610217C1857747OMIM14319039603604
HP:0001332HP:0001332Dystonia0PLA2G6 CL E G H8398610217Neurodegeneration with brain iron accumulation 2b610217C1857747OMIM15139039603604
HP:0001332HP:0001332Dystonia0PLA2G6 CL E G H8398612953Parkinson disease 14612953C2751842OMIM14319039603604
HP:0001332HP:0001332Dystonia0PLA2G6 CL E G H8398612953Parkinson disease 14612953C2751842OMIM15139039603604
HP:0001332HP:0001332Dystonia0PLAA CL E G H9373521426ORPHA1969043603873
HP:0001332HP:0001332Dystonia0PLAA CL E G H9373521426ORPHA12229043603873
HP:0001332HP:0001332Dystonia0PLP1 CL E G H5354312080Pelizaeus-Merzbacher disease312080C0205711OMIM13359086300401
HP:0001332HP:0001332Dystonia0PLP1 CL E G H5354312080Pelizaeus-Merzbacher disease312080C0205711OMIM13659086300401
HP:0001332HP:0001332Dystonia0PMPCB CL E G H9512617954MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 6617954CN244567OMIM1459119603131
HP:0001332HP:0001332Dystonia0PMPCB CL E G H9512617954MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 6617954CN244567OMIM1539119603131
HP:0001332HP:0001332Dystonia0PNKP CL E G H11284616267Ataxia-oculomotor apraxia 4616267C4225397OMIM16809154605610
HP:0001332HP:0001332Dystonia0PNKP CL E G H11284616267Ataxia-oculomotor apraxia 4616267C4225397OMIM17699154605610
HP:0001332HP:0001332Dystonia0PNPLA8 CL E G H50640251950Mitochondrial myopathy with lactic acidosis251950C1855033OMIM15628900612123
HP:0001332HP:0001332Dystonia0PNPLA8 CL E G H50640251950Mitochondrial myopathy with lactic acidosis251950C1855033OMIM16828900612123
HP:0001332HP:0001332Dystonia0PNPT1 CL E G H87178614932Combined oxidative phosphorylation deficiency 13614932C3554129OMIM124123166610316
HP:0001332HP:0001332Dystonia0PNPT1 CL E G H87178614932Combined oxidative phosphorylation deficiency 13614932C3554129OMIM139823166610316
HP:0001332HP:0001332Dystonia0PODXL CL E G H5420391411ORPHA1889171602632
HP:0001332HP:0001332Dystonia0PODXL CL E G H5420391411ORPHA11049171602632
HP:0001332HP:0001332Dystonia0POLR3A CL E G H11128447896ORPHA148430074614258
HP:0001332HP:0001332Dystonia0POLR3A CL E G H11128447896ORPHA165430074614258
HP:0001332HP:0001332Dystonia0POLR3A CL E G H11128607694Hypomyelinating leukodystrophy 7607694C2676243OMIM148430074614258
HP:0001332HP:0001332Dystonia0POLR3A CL E G H11128607694Hypomyelinating leukodystrophy 7607694C2676243OMIM165430074614258
HP:0001332HP:0001332Dystonia0POLR3B CL E G H55703607694Hypomyelinating leukodystrophy 7607694C2676243OMIM129730348614366
HP:0001332HP:0001332Dystonia0POLR3B CL E G H55703607694Hypomyelinating leukodystrophy 7607694C2676243OMIM132630348614366
HP:0001332HP:0001332Dystonia0PRKN CL E G H5071600116Parkinson disease 2600116C1868675OMIM15768607602544
HP:0001332HP:0001332Dystonia0PRKN CL E G H5071600116Parkinson disease 2600116C1868675OMIM16208607602544
HP:0001332HP:0001332Dystonia0PSAP CL E G H5660139406ORPHA13909498176801
HP:0001332HP:0001332Dystonia0PSAP CL E G H5660139406ORPHA15029498176801
HP:0001332HP:0001332Dystonia0PSAP CL E G H5660309256ORPHA13909498176801
HP:0001332HP:0001332Dystonia0PSAP CL E G H5660309256ORPHA15029498176801
HP:0001332HP:0001332Dystonia0PSAP CL E G H5660309263ORPHA13909498176801
HP:0001332HP:0001332Dystonia0PSAP CL E G H5660309263ORPHA15029498176801
HP:0001332HP:0001332Dystonia0PSAP CL E G H5660309271ORPHA13909498176801
HP:0001332HP:0001332Dystonia0PSAP CL E G H5660309271ORPHA15029498176801
HP:0001332HP:0001332Dystonia0PSEN1 CL E G H5663607822Alzheimer disease, type 3607822C1843013OMIM14089508104311
HP:0001332HP:0001332Dystonia0PSEN1 CL E G H5663607822Alzheimer disease, type 3607822C1843013OMIM14319508104311
HP:0001332HP:0001332Dystonia0PTS CL E G H58052616406-pyruvoyl-tetrahydropterin synthase deficiency261640C0878676OMIM11649689612719
HP:0001332HP:0001332Dystonia0PTS CL E G H58052616406-pyruvoyl-tetrahydropterin synthase deficiency261640C0878676OMIM11859689612719
HP:0001332HP:0001332Dystonia0QDPR CL E G H5860261630Dihydropteridine reductase deficiency261630C0268465OMIM11729752612676
HP:0001332HP:0001332Dystonia0QDPR CL E G H5860261630Dihydropteridine reductase deficiency261630C0268465OMIM12249752612676
HP:0001332HP:0001332Dystonia0RAB11B CL E G H9230617807NEURODEVELOPMENTAL DISORDER WITH ATAXIC GAIT, ABSENT SPEECH, AND DECREASED CORTICAL WHITE MATTER617807C4540498OMIM1339761604198
HP:0001332HP:0001332Dystonia0RAB11B CL E G H9230617807NEURODEVELOPMENTAL DISORDER WITH ATAXIC GAIT, ABSENT SPEECH, AND DECREASED CORTICAL WHITE MATTER617807C4540498OMIM1569761604198
HP:0001332HP:0001332Dystonia0RARS CL E G H5917438114ORPHA19870107820
HP:0001332HP:0001332Dystonia0RHOBTB2 CL E G H23221618004EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 64618004CN248512OMIM113718756607352
HP:0001332HP:0001332Dystonia0RHOBTB2 CL E G H23221618004EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 64618004CN248512OMIM123718756607352
HP:0001332HP:0001332Dystonia0RNASEH2A CL E G H1053551ORPHA118618518606034
HP:0001332HP:0001332Dystonia0RNASEH2A CL E G H1053551ORPHA125918518606034
HP:0001332HP:0001332Dystonia0RNASEH2A CL E G H10535610333Aicardi Goutieres syndrome 4610333C1835912OMIM118618518606034
HP:0001332HP:0001332Dystonia0RNASEH2A CL E G H10535610333Aicardi Goutieres syndrome 4610333C1835912OMIM125918518606034
HP:0001332HP:0001332Dystonia0RNASEH2B CL E G H7962151ORPHA119725671610326
HP:0001332HP:0001332Dystonia0RNASEH2B CL E G H7962151ORPHA127225671610326
HP:0001332HP:0001332Dystonia0RNASEH2C CL E G H8415351ORPHA114724116610330
HP:0001332HP:0001332Dystonia0RNASEH2C CL E G H8415351ORPHA119124116610330
HP:0001332HP:0001332Dystonia0RNASEH2C CL E G H84153610329Aicardi Goutieres syndrome 3610329C1835916OMIM114724116610330
HP:0001332HP:0001332Dystonia0RNASEH2C CL E G H84153610329Aicardi Goutieres syndrome 3610329C1835916OMIM119124116610330
HP:0001332HP:0001332Dystonia0SAMHD1 CL E G H2593951ORPHA132915925606754
HP:0001332HP:0001332Dystonia0SAMHD1 CL E G H2593951ORPHA145415925606754
HP:0001332HP:0001332Dystonia0SDHA CL E G H6389255241ORPHA1154510680600857
HP:0001332HP:0001332Dystonia0SDHA CL E G H6389255241ORPHA1177810680600857
HP:0001332HP:0001332Dystonia0SDHA CL E G H6389256000Leigh syndrome256000C0023264OMIM1154510680600857
HP:0001332HP:0001332Dystonia0SDHA CL E G H6389256000Leigh syndrome256000C0023264OMIM1177810680600857
HP:0001332HP:0001332Dystonia0SDHA CL E G H6389252011Mitochondrial complex II deficiency252011C1855008OMIM1154510680600857
HP:0001332HP:0001332Dystonia0SDHA CL E G H6389252011Mitochondrial complex II deficiency252011C1855008OMIM1177810680600857
HP:0001332HP:0001332Dystonia0SDHAF1 CL E G H644096252011Mitochondrial complex II deficiency252011C1855008OMIM14633867612848
HP:0001332HP:0001332Dystonia0SDHAF1 CL E G H644096252011Mitochondrial complex II deficiency252011C1855008OMIM15433867612848
HP:0001332HP:0001332Dystonia0SDHD CL E G H6392252011Mitochondrial complex II deficiency252011C1855008OMIM144210683602690
HP:0001332HP:0001332Dystonia0SDHD CL E G H6392252011Mitochondrial complex II deficiency252011C1855008OMIM150710683602690
HP:0001332HP:0001332Dystonia0SERAC1 CL E G H849476147393-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome614739C3553597OMIM124921061614725
HP:0001332HP:0001332Dystonia0SERAC1 CL E G H849476147393-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome614739C3553597OMIM128321061614725
HP:0001332HP:0001332Dystonia0SLC19A3 CL E G H80704255241ORPHA140016266606152
HP:0001332HP:0001332Dystonia0SLC19A3 CL E G H80704255241ORPHA146116266606152
HP:0001332HP:0001332Dystonia0SLC19A3 CL E G H80704607483Basal ganglia disease, biotin-responsive607483C1843807OMIM140016266606152
HP:0001332HP:0001332Dystonia0SLC19A3 CL E G H80704607483Basal ganglia disease, biotin-responsive607483C1843807OMIM146116266606152
HP:0001332HP:0001332Dystonia0SLC20A2 CL E G H6575213600Idiopathic basal ganglia calcification 1213600C0393590OMIM122010947158378
HP:0001332HP:0001332Dystonia0SLC20A2 CL E G H6575213600Idiopathic basal ganglia calcification 1213600C0393590OMIM124810947158378
HP:0001332HP:0001332Dystonia0SLC2A1 CL E G H651353583ORPHA167211005138140
HP:0001332HP:0001332Dystonia0SLC2A1 CL E G H651353583ORPHA175311005138140
HP:0001332HP:0001332Dystonia0SLC2A1 CL E G H651371277ORPHA167211005138140
HP:0001332HP:0001332Dystonia0SLC2A1 CL E G H651371277ORPHA175311005138140
HP:0001332HP:0001332Dystonia0SLC2A1 CL E G H6513601042Dystonia 9601042C1832855OMIM167211005138140
HP:0001332HP:0001332Dystonia0SLC2A1 CL E G H6513601042Dystonia 9601042C1832855OMIM175311005138140
HP:0001332HP:0001332Dystonia0SLC2A1 CL E G H6513612126GLUT1 deficiency syndrome 2612126C1842534OMIM167211005138140
HP:0001332HP:0001332Dystonia0SLC2A1 CL E G H6513612126GLUT1 deficiency syndrome 2612126C1842534OMIM175311005138140
HP:0001332HP:0001332Dystonia0SLC30A10 CL E G H55532309854ORPHA113925355611146
HP:0001332HP:0001332Dystonia0SLC30A10 CL E G H55532309854ORPHA116725355611146
HP:0001332HP:0001332Dystonia0SLC30A10 CL E G H55532613280Hypermanganesemia with dystonia 1613280OMIM113925355611146
HP:0001332HP:0001332Dystonia0SLC30A10 CL E G H55532613280Hypermanganesemia with dystonia 1613280OMIM116725355611146
HP:0001332HP:0001332Dystonia0SLC30A9 CL E G H10463617595Birk-Landau-Perez syndrome617595C4539828OMIM1221329604604
HP:0001332HP:0001332Dystonia0SLC30A9 CL E G H10463617595Birk-Landau-Perez syndrome617595C4539828OMIM1281329604604
HP:0001332HP:0001332Dystonia0SLC6A8 CL E G H653552503ORPHA171611055300036
HP:0001332HP:0001332Dystonia0SLC6A8 CL E G H653552503ORPHA177011055300036
HP:0001332HP:0001332Dystonia0SLC6A8 CL E G H6535300352Creatine deficiency, X-linked300352C1845862OMIM171611055300036
HP:0001332HP:0001332Dystonia0SLC6A8 CL E G H6535300352Creatine deficiency, X-linked300352C1845862OMIM177011055300036
HP:0001332HP:0001332Dystonia0SLC9A6 CL E G H1047985278ORPHA144711079300231
HP:0001332HP:0001332Dystonia0SLC9A6 CL E G H1047985278ORPHA148711079300231
HP:0001332HP:0001332Dystonia0SNCA CL E G H6622171695ORPHA115411138163890
HP:0001332HP:0001332Dystonia0SNCA CL E G H6622171695ORPHA116611138163890
HP:0001332HP:0001332Dystonia0SNCA CL E G H6622168601Parkinson disease 1168601C1868595OMIM115411138163890
HP:0001332HP:0001332Dystonia0SNCA CL E G H6622168601Parkinson disease 1168601C1868595OMIM116611138163890
HP:0001332HP:0001332Dystonia0SNCAIP CL E G H9627168600Parkinson disease, late-onset168600C3160718OMIM111611139603779
HP:0001332HP:0001332Dystonia0SNORD118 CL E G H727676614561Leukoencephalopathy, brain calcifications, and cysts614561C3281200OMIM16732952616663
HP:0001332HP:0001332Dystonia0SNORD118 CL E G H727676614561Leukoencephalopathy, brain calcifications, and cysts614561C3281200OMIM110232952616663
HP:0001332HP:0001332Dystonia0SPR CL E G H6697612716Sepiapterin reductase deficiency612716C0268468OMIM112811257182125
HP:0001332HP:0001332Dystonia0SPR CL E G H6697612716Sepiapterin reductase deficiency612716C0268468OMIM114511257182125
HP:0001332HP:0001332Dystonia0SQSTM1 CL E G H8878617145Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset617145C4310693OMIM138311280601530
HP:0001332HP:0001332Dystonia0SQSTM1 CL E G H8878617145Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset617145C4310693OMIM147311280601530
HP:0001332HP:0001332Dystonia0STN1 CL E G H79991617341Cerebroretinal microangiopathy with calcifications and cysts 2617341C4479220OMIM14226200613128
HP:0001332HP:0001332Dystonia0STN1 CL E G H79991617341Cerebroretinal microangiopathy with calcifications and cysts 2617341C4479220OMIM110526200613128
HP:0001332HP:0001332Dystonia0SUCLA2 CL E G H8803612073Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)612073C2749864OMIM124411448603921
HP:0001332HP:0001332Dystonia0SUCLA2 CL E G H8803612073Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)612073C2749864OMIM127711448603921
HP:0001332HP:0001332Dystonia0SURF1 CL E G H6834255241ORPHA124911474185620
HP:0001332HP:0001332Dystonia0SURF1 CL E G H6834255241ORPHA131311474185620
HP:0001332HP:0001332Dystonia0SURF1 CL E G H6834616684Charcot-Marie-Tooth disease, type 4k616684C4225246OMIM124911474185620
HP:0001332HP:0001332Dystonia0SURF1 CL E G H6834616684Charcot-Marie-Tooth disease, type 4k616684C4225246OMIM131311474185620
HP:0001332HP:0001332Dystonia0SURF1 CL E G H6834256000Leigh syndrome256000C0023264OMIM124911474185620
HP:0001332HP:0001332Dystonia0SURF1 CL E G H6834256000Leigh syndrome256000C0023264OMIM131311474185620
HP:0001332HP:0001332Dystonia0SYNJ1 CL E G H8867391411ORPHA173011503604297
HP:0001332HP:0001332Dystonia0SYNJ1 CL E G H8867391411ORPHA190911503604297
HP:0001332HP:0001332Dystonia0SYNJ1 CL E G H8867615530Parkinson disease 20, early-onset615530C3809824OMIM173011503604297
HP:0001332HP:0001332Dystonia0SYNJ1 CL E G H8867615530Parkinson disease 20, early-onset615530C3809824OMIM190911503604297
HP:0001332HP:0001332Dystonia0SYT1 CL E G H6857618218BAKER-GORDON SYNDROME618218OMIM13911509185605
HP:0001332HP:0001332Dystonia0SYT1 CL E G H6857618218BAKER-GORDON SYNDROME618218OMIM14411509185605
HP:0001332HP:0001332Dystonia0TACO1 CL E G H51204255241ORPHA17024316612958
HP:0001332HP:0001332Dystonia0TACO1 CL E G H51204255241ORPHA17924316612958
HP:0001332HP:0001332Dystonia0TBC1D24 CL E G H57465352596ORPHA166629203613577
HP:0001332HP:0001332Dystonia0TBC1D24 CL E G H57465352596ORPHA173829203613577
HP:0001332HP:0001332Dystonia0TBC1D24 CL E G H57465615338Early infantile epileptic encephalopathy 16615338C3809173OMIM166629203613577
HP:0001332HP:0001332Dystonia0TBC1D24 CL E G H57465615338Early infantile epileptic encephalopathy 16615338C3809173OMIM173829203613577
HP:0001332HP:0001332Dystonia0TBP CL E G H6908607136Spinocerebellar ataxia 17607136C1846707OMIM110211588600075
HP:0001332HP:0001332Dystonia0TBP CL E G H6908607136Spinocerebellar ataxia 17607136C1846707OMIM110611588600075
HP:0001332HP:0001332Dystonia0TIMM8A CL E G H1678304700Mohr-Tranebjaerg syndrome304700C0796074OMIM120111817300356
HP:0001332HP:0001332Dystonia0TIMM8A CL E G H1678304700Mohr-Tranebjaerg syndrome304700C0796074OMIM121111817300356
HP:0001332HP:0001332Dystonia0TMEM106B CL E G H54664617964LEUKODYSTROPHY, HYPOMYELINATING, 16617964CN244907OMIM16222407613413
HP:0001332HP:0001332Dystonia0TMEM106B CL E G H54664617964LEUKODYSTROPHY, HYPOMYELINATING, 16617964CN244907OMIM17422407613413
HP:0001332HP:0001332Dystonia0TPI1 CL E G H7167615512Triosephosphate isomerase deficiency615512C1860808OMIM110912009190450
HP:0001332HP:0001332Dystonia0TPI1 CL E G H7167615512Triosephosphate isomerase deficiency615512C1860808OMIM113212009190450
HP:0001332HP:0001332Dystonia0TPK1 CL E G H27010614458Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type)614458C3280866OMIM122117358606370
HP:0001332HP:0001332Dystonia0TPK1 CL E G H27010614458Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type)614458C3280866OMIM125017358606370
HP:0001332HP:0001332Dystonia0TRAPPC11 CL E G H60684615356Limb-girdle muscular dystrophy, type 2S615356C3809236OMIM157325751614138
HP:0001332HP:0001332Dystonia0TRAPPC11 CL E G H60684615356Limb-girdle muscular dystrophy, type 2S615356C3809236OMIM167325751614138
HP:0001332HP:0001332Dystonia0TRAPPC12 CL E G H51112617669ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND SPASTICITY617669C4540059OMIM16224284614139
HP:0001332HP:0001332Dystonia0TRAPPC12 CL E G H51112617669ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND SPASTICITY617669C4540059OMIM17824284614139
HP:0001332HP:0001332Dystonia0TREX1 CL E G H1127751ORPHA119812269606609
HP:0001332HP:0001332Dystonia0TREX1 CL E G H1127751ORPHA128912269606609
HP:0001332HP:0001332Dystonia0TREX1 CL E G H11277225750Aicardi Goutieres syndrome 1225750C0796126OMIM119812269606609
HP:0001332HP:0001332Dystonia0TREX1 CL E G H11277225750Aicardi Goutieres syndrome 1225750C0796126OMIM128912269606609
HP:0001332HP:0001332Dystonia0TRIT1 CL E G H54802617873COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 35617873CN807948OMIM15420286617840
HP:0001332HP:0001332Dystonia0TRIT1 CL E G H54802617873COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 35617873CN807948OMIM15920286617840
HP:0001332HP:0001332Dystonia0TSEN2 CL E G H80746612389Pontocerebellar hypoplasia type 2B612389C2676466OMIM120828422608753
HP:0001332HP:0001332Dystonia0TSEN2 CL E G H80746612389Pontocerebellar hypoplasia type 2B612389C2676466OMIM122828422608753
HP:0001332HP:0001332Dystonia0TSEN34 CL E G H79042612390Pontocerebellar hypoplasia type 2C612390C2676465OMIM113215506608754
HP:0001332HP:0001332Dystonia0TSEN34 CL E G H79042612390Pontocerebellar hypoplasia type 2C612390C2676465OMIM114015506608754
HP:0001332HP:0001332Dystonia0TSFM CL E G H10102610505Combined oxidative phosphorylation deficiency 3610505C1864840OMIM118312367604723
HP:0001332HP:0001332Dystonia0TSFM CL E G H10102610505Combined oxidative phosphorylation deficiency 3610505C1864840OMIM124412367604723
HP:0001332HP:0001332Dystonia0TTC19 CL E G H54902615157Mitochondrial complex III deficiency, nuclear type 2615157C3554605OMIM123626006613814
HP:0001332HP:0001332Dystonia0TTC19 CL E G H54902615157Mitochondrial complex III deficiency, nuclear type 2615157C3554605OMIM124926006613814
HP:0001332HP:0001332Dystonia0TUBB4A CL E G H10382612438Leukodystrophy, hypomyelinating, 6612438C2676244OMIM116820774602662
HP:0001332HP:0001332Dystonia0TUBB4A CL E G H10382612438Leukodystrophy, hypomyelinating, 6612438C2676244OMIM118120774602662
HP:0001332HP:0001332Dystonia0TXN2 CL E G H25828616811Combined oxidative phosphorylation deficiency 29616811C4225200OMIM14617772609063
HP:0001332HP:0001332Dystonia0TXN2 CL E G H25828616811Combined oxidative phosphorylation deficiency 29616811C4225200OMIM15017772609063
HP:0001332HP:0001332Dystonia0UBA5 CL E G H79876617132Epileptic encephalopathy, early infantile, 44617132C4310700OMIM15823230610552
HP:0001332HP:0001332Dystonia0UBA5 CL E G H79876617132Epileptic encephalopathy, early infantile, 44617132C4310700OMIM110923230610552
HP:0001332HP:0001332Dystonia0UBQLN2 CL E G H29978300857Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia300857C3275459OMIM120012509300264
HP:0001332HP:0001332Dystonia0UBQLN2 CL E G H29978300857Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia300857C3275459OMIM121712509300264
HP:0001332HP:0001332Dystonia0UBTF CL E G H7343617672NEURODEGENERATION, CHILDHOOD-ONSET, WITH BRAIN ATROPHY617672C4540086OMIM14712511600673
HP:0001332HP:0001332Dystonia0UBTF CL E G H7343617672NEURODEGENERATION, CHILDHOOD-ONSET, WITH BRAIN ATROPHY617672C4540086OMIM15212511600673
HP:0001332HP:0001332Dystonia0UFM1 CL E G H51569617899LEUKODYSTROPHY, HYPOMYELINATING, 14617899CN845004OMIM14920597610553
HP:0001332HP:0001332Dystonia0UFM1 CL E G H51569617899LEUKODYSTROPHY, HYPOMYELINATING, 14617899CN845004OMIM15520597610553
HP:0001332HP:0001332Dystonia0UPB1 CL E G H51733613161Deficiency of beta-ureidopropionase613161C1291512OMIM118016297606673
HP:0001332HP:0001332Dystonia0UPB1 CL E G H51733613161Deficiency of beta-ureidopropionase613161C1291512OMIM119216297606673
HP:0001332HP:0001332Dystonia0UQCRQ CL E G H27089615159Mitochondrial complex III deficiency, nuclear type 4615159C3554607OMIM18929594612080
HP:0001332HP:0001332Dystonia0UQCRQ CL E G H27089615159Mitochondrial complex III deficiency, nuclear type 4615159C3554607OMIM19029594612080
HP:0001332HP:0001332Dystonia0VAMP1 CL E G H6843108600Ataxia, spastic, 1, autosomal dominant108600C1970107OMIM18312642185880
HP:0001332HP:0001332Dystonia0VAMP1 CL E G H6843108600Ataxia, spastic, 1, autosomal dominant108600C1970107OMIM19912642185880
HP:0001332HP:0001332Dystonia0VCP CL E G H7415167320Inclusion body myopathy with early-onset paget disease and frontotemporal dementia167320C1833662OMIM135612666601023
HP:0001332HP:0001332Dystonia0VCP CL E G H7415167320Inclusion body myopathy with early-onset paget disease and frontotemporal dementia167320C1833662OMIM139512666601023
HP:0001332HP:0001332Dystonia0VPS13A CL E G H232302388ORPHA112461908605978
HP:0001332HP:0001332Dystonia0VPS13A CL E G H232302388ORPHA113741908605978
HP:0001332HP:0001332Dystonia0VPS13A CL E G H23230200150Choreoacanthocytosis200150C0393576OMIM112461908605978
HP:0001332HP:0001332Dystonia0VPS13A CL E G H23230200150Choreoacanthocytosis200150C0393576OMIM113741908605978
HP:0001332HP:0001332Dystonia0VPS13D CL E G H55187607317Spinocerebellar ataxia autosomal recessive 4607317C1846492OMIM119123595608877
HP:0001332HP:0001332Dystonia0VPS13D CL E G H55187607317Spinocerebellar ataxia autosomal recessive 4607317C1846492OMIM126623595608877
HP:0001332HP:0001332Dystonia0WARS2 CL E G H10352617710NEURODEVELOPMENTAL DISORDER, MITOCHONDRIAL, WITH ABNORMAL MOVEMENTS AND LACTIC ACIDOSIS, WITH OR WITHOUT SEIZURES617710C4540192OMIM15212730604733
HP:0001332HP:0001332Dystonia0WARS2 CL E G H10352617710NEURODEVELOPMENTAL DISORDER, MITOCHONDRIAL, WITH ABNORMAL MOVEMENTS AND LACTIC ACIDOSIS, WITH OR WITHOUT SEIZURES617710C4540192OMIM16512730604733
HP:0001332HP:0001332Dystonia0WDR45 CL E G H11152329284ORPHA143128912300526
HP:0001332HP:0001332Dystonia0WDR45 CL E G H11152329284ORPHA146428912300526
HP:0001332HP:0001332Dystonia0WDR45 CL E G H11152300894Neurodegeneration with brain iron accumulation 5300894C3550973OMIM143128912300526
HP:0001332HP:0001332Dystonia0WDR45 CL E G H11152300894Neurodegeneration with brain iron accumulation 5300894C3550973OMIM146428912300526
HP:0001332HP:0001332Dystonia0YY1 CL E G H7528617557GABRIELE-DE VRIES SYNDROME617557C4479652OMIM17212856600013
HP:0001332HP:0001332Dystonia0YY1 CL E G H7528617557GABRIELE-DE VRIES SYNDROME617557C4479652OMIM17912856600013
HP:0001332HP:0001332Dystonia0ZC4H2 CL E G H55906314580Wieacker Wolff syndrome314580C0796200OMIM121724931300897
HP:0001332HP:0001332Dystonia0ZC4H2 CL E G H55906314580Wieacker Wolff syndrome314580C0796200OMIM122324931300897
HP:0001332HP:0002530Axial dystonia1AARS2 CL E G H57505615889Leukoencephalopathy, progressive, with ovarian failure615889C4014588OMIM133821022612035
HP:0001332HP:0002530Axial dystonia1AARS2 CL E G H57505615889Leukoencephalopathy, progressive, with ovarian failure615889C4014588OMIM138721022612035
HP:0001332HP:0004373Focal dystonia1AARS2 CL E G H57505615889Leukoencephalopathy, progressive, with ovarian failure615889C4014588OMIM133821022612035
HP:0001332HP:0004373Focal dystonia1AARS2 CL E G H57505615889Leukoencephalopathy, progressive, with ovarian failure615889C4014588OMIM138721022612035
HP:0001332HP:0007325Generalized dystonia1AARS2 CL E G H57505615889Leukoencephalopathy, progressive, with ovarian failure615889C4014588OMIM133821022612035
HP:0001332HP:0007325Generalized dystonia1AARS2 CL E G H57505615889Leukoencephalopathy, progressive, with ovarian failure615889C4014588OMIM138721022612035
HP:0001332HP:0032005Hemidystonia1AARS2 CL E G H57505615889Leukoencephalopathy, progressive, with ovarian failure615889C4014588OMIM133821022612035
HP:0001332HP:0032005Hemidystonia1AARS2 CL E G H57505615889Leukoencephalopathy, progressive, with ovarian failure615889C4014588OMIM138721022612035
HP:0001332HP:0002451Limb dystonia1AARS2 CL E G H57505615889Leukoencephalopathy, progressive, with ovarian failure615889C4014588OMIM133821022612035
HP:0001332HP:0002451Limb dystonia1AARS2 CL E G H57505615889Leukoencephalopathy, progressive, with ovarian failure615889C4014588OMIM138721022612035
HP:0001332HP:0010553Oculogyric crisis1AARS2 CL E G H57505615889Leukoencephalopathy, progressive, with ovarian failure615889C4014588OMIM133821022612035
HP:0001332HP:0010553Oculogyric crisis1AARS2 CL E G H57505615889Leukoencephalopathy, progressive, with ovarian failure615889C4014588OMIM138721022612035
HP:0001332HP:0002268Paroxysmal dystonia1AARS2 CL E G H57505615889Leukoencephalopathy, progressive, with ovarian failure615889C4014588OMIM133821022612035
HP:0001332HP:0002268Paroxysmal dystonia1AARS2 CL E G H57505615889Leukoencephalopathy, progressive, with ovarian failure615889C4014588OMIM138721022612035
HP:0001332HP:0001304Torsion dystonia1AARS2 CL E G H57505615889Leukoencephalopathy, progressive, with ovarian failure615889C4014588OMIM133821022612035
HP:0001332HP:0001304Torsion dystonia1AARS2 CL E G H57505615889Leukoencephalopathy, progressive, with ovarian failure615889C4014588OMIM138721022612035
HP:0001332HP:0002530Axial dystonia1ACER3 CL E G H55331617762LEUKODYSTROPHY, PROGRESSIVE, EARLY CHILDHOOD-ONSET617762C4540358OMIM12716066617036
HP:0001332HP:0002530Axial dystonia1ACER3 CL E G H55331617762LEUKODYSTROPHY, PROGRESSIVE, EARLY CHILDHOOD-ONSET617762C4540358OMIM13816066617036
HP:0001332HP:0004373Focal dystonia1ACER3 CL E G H55331617762LEUKODYSTROPHY, PROGRESSIVE, EARLY CHILDHOOD-ONSET617762C4540358OMIM12716066617036
HP:0001332HP:0004373Focal dystonia1ACER3 CL E G H55331617762LEUKODYSTROPHY, PROGRESSIVE, EARLY CHILDHOOD-ONSET617762C4540358OMIM13816066617036
HP:0001332HP:0007325Generalized dystonia1ACER3 CL E G H55331617762LEUKODYSTROPHY, PROGRESSIVE, EARLY CHILDHOOD-ONSET617762C4540358OMIM12716066617036
HP:0001332HP:0007325Generalized dystonia1ACER3 CL E G H55331617762LEUKODYSTROPHY, PROGRESSIVE, EARLY CHILDHOOD-ONSET617762C4540358OMIM13816066617036
HP:0001332HP:0032005Hemidystonia1ACER3 CL E G H55331617762LEUKODYSTROPHY, PROGRESSIVE, EARLY CHILDHOOD-ONSET617762C4540358OMIM12716066617036
HP:0001332HP:0032005Hemidystonia1ACER3 CL E G H55331617762LEUKODYSTROPHY, PROGRESSIVE, EARLY CHILDHOOD-ONSET617762C4540358OMIM13816066617036
HP:0001332HP:0002451Limb dystonia1ACER3 CL E G H55331617762LEUKODYSTROPHY, PROGRESSIVE, EARLY CHILDHOOD-ONSET617762C4540358OMIM12716066617036
HP:0001332HP:0002451Limb dystonia1ACER3 CL E G H55331617762LEUKODYSTROPHY, PROGRESSIVE, EARLY CHILDHOOD-ONSET617762C4540358OMIM13816066617036
HP:0001332HP:0010553Oculogyric crisis1ACER3 CL E G H55331617762LEUKODYSTROPHY, PROGRESSIVE, EARLY CHILDHOOD-ONSET617762C4540358OMIM12716066617036
HP:0001332HP:0010553Oculogyric crisis1ACER3 CL E G H55331617762LEUKODYSTROPHY, PROGRESSIVE, EARLY CHILDHOOD-ONSET617762C4540358OMIM13816066617036
HP:0001332HP:0002268Paroxysmal dystonia1ACER3 CL E G H55331617762LEUKODYSTROPHY, PROGRESSIVE, EARLY CHILDHOOD-ONSET617762C4540358OMIM12716066617036
HP:0001332HP:0002268Paroxysmal dystonia1ACER3 CL E G H55331617762LEUKODYSTROPHY, PROGRESSIVE, EARLY CHILDHOOD-ONSET617762C4540358OMIM13816066617036
HP:0001332HP:0001304Torsion dystonia1ACER3 CL E G H55331617762LEUKODYSTROPHY, PROGRESSIVE, EARLY CHILDHOOD-ONSET617762C4540358OMIM12716066617036
HP:0001332HP:0001304Torsion dystonia1ACER3 CL E G H55331617762LEUKODYSTROPHY, PROGRESSIVE, EARLY CHILDHOOD-ONSET617762C4540358OMIM13816066617036
HP:0001332HP:0002530Axial dystonia1ACOX1 CL E G H51264470Pseudoneonatal adrenoleukodystrophy264470C1849678OMIM1388119609751
HP:0001332HP:0002530Axial dystonia1ACOX1 CL E G H51264470Pseudoneonatal adrenoleukodystrophy264470C1849678OMIM1435119609751
HP:0001332HP:0004373Focal dystonia1ACOX1 CL E G H51264470Pseudoneonatal adrenoleukodystrophy264470C1849678OMIM1388119609751
HP:0001332HP:0004373Focal dystonia1ACOX1 CL E G H51264470Pseudoneonatal adrenoleukodystrophy264470C1849678OMIM1435119609751
HP:0001332HP:0007325Generalized dystonia1ACOX1 CL E G H51264470Pseudoneonatal adrenoleukodystrophy264470C1849678OMIM1388119609751
HP:0001332HP:0007325Generalized dystonia1ACOX1 CL E G H51264470Pseudoneonatal adrenoleukodystrophy264470C1849678OMIM1435119609751
HP:0001332HP:0032005Hemidystonia1ACOX1 CL E G H51264470Pseudoneonatal adrenoleukodystrophy264470C1849678OMIM1388119609751
HP:0001332HP:0032005Hemidystonia1ACOX1 CL E G H51264470Pseudoneonatal adrenoleukodystrophy264470C1849678OMIM1435119609751
HP:0001332HP:0002451Limb dystonia1ACOX1 CL E G H51264470Pseudoneonatal adrenoleukodystrophy264470C1849678OMIM1388119609751
HP:0001332HP:0002451Limb dystonia1ACOX1 CL E G H51264470Pseudoneonatal adrenoleukodystrophy264470C1849678OMIM1435119609751
HP:0001332HP:0010553Oculogyric crisis1ACOX1 CL E G H51264470Pseudoneonatal adrenoleukodystrophy264470C1849678OMIM1388119609751
HP:0001332HP:0010553Oculogyric crisis1ACOX1 CL E G H51264470Pseudoneonatal adrenoleukodystrophy264470C1849678OMIM1435119609751
HP:0001332HP:0002268Paroxysmal dystonia1ACOX1 CL E G H51264470Pseudoneonatal adrenoleukodystrophy264470C1849678OMIM1388119609751
HP:0001332HP:0002268Paroxysmal dystonia1ACOX1 CL E G H51264470Pseudoneonatal adrenoleukodystrophy264470C1849678OMIM1435119609751
HP:0001332HP:0001304Torsion dystonia1ACOX1 CL E G H51264470Pseudoneonatal adrenoleukodystrophy264470C1849678OMIM1388119609751
HP:0001332HP:0001304Torsion dystonia1ACOX1 CL E G H51264470Pseudoneonatal adrenoleukodystrophy264470C1849678OMIM1435119609751
HP:0001332HP:0002530Axial dystonia1ADAR CL E G H10351ORPHA1471225146920
HP:0001332HP:0002530Axial dystonia1ADAR CL E G H10351ORPHA1654225146920
HP:0001332HP:0004373Focal dystonia1ADAR CL E G H10351ORPHA1471225146920
HP:0001332HP:0004373Focal dystonia1ADAR CL E G H10351ORPHA1654225146920
HP:0001332HP:0007325Generalized dystonia1ADAR CL E G H10351ORPHA1471225146920
HP:0001332HP:0007325Generalized dystonia1ADAR CL E G H10351ORPHA1654225146920
HP:0001332HP:0032005Hemidystonia1ADAR CL E G H10351ORPHA1471225146920
HP:0001332HP:0032005Hemidystonia1ADAR CL E G H10351ORPHA1654225146920
HP:0001332HP:0002451Limb dystonia1ADAR CL E G H10351ORPHA1471225146920
HP:0001332HP:0002451Limb dystonia1ADAR CL E G H10351ORPHA1654225146920
HP:0001332HP:0010553Oculogyric crisis1ADAR CL E G H10351ORPHA1471225146920
HP:0001332HP:0010553Oculogyric crisis1ADAR CL E G H10351ORPHA1654225146920
HP:0001332HP:0002268Paroxysmal dystonia1ADAR CL E G H10351ORPHA1471225146920
HP:0001332HP:0002268Paroxysmal dystonia1ADAR CL E G H10351ORPHA1654225146920
HP:0001332HP:0001304Torsion dystonia1ADAR CL E G H10351ORPHA1471225146920
HP:0001332HP:0001304Torsion dystonia1ADAR CL E G H10351ORPHA1654225146920
HP:0001332HP:0002530Axial dystonia1ADAR CL E G H103225154ORPHA1471225146920
HP:0001332HP:0002530Axial dystonia1ADAR CL E G H103225154ORPHA1654225146920
HP:0001332HP:0004373Focal dystonia1ADAR CL E G H103225154ORPHA1471225146920
HP:0001332HP:0004373Focal dystonia1ADAR CL E G H103225154ORPHA1654225146920
HP:0001332HP:0007325Generalized dystonia1ADAR CL E G H103225154ORPHA1471225146920
HP:0001332HP:0007325Generalized dystonia1ADAR CL E G H103225154ORPHA1654225146920
HP:0001332HP:0032005Hemidystonia1ADAR CL E G H103225154ORPHA1471225146920
HP:0001332HP:0032005Hemidystonia1ADAR CL E G H103225154ORPHA1654225146920
HP:0001332HP:0002451Limb dystonia1ADAR CL E G H103225154ORPHA1471225146920
HP:0001332HP:0002451Limb dystonia1ADAR CL E G H103225154ORPHA1654225146920
HP:0001332HP:0010553Oculogyric crisis1ADAR CL E G H103225154ORPHA1471225146920
HP:0001332HP:0010553Oculogyric crisis1ADAR CL E G H103225154ORPHA1654225146920
HP:0001332HP:0002268Paroxysmal dystonia1ADAR CL E G H103225154ORPHA1471225146920
HP:0001332HP:0002268Paroxysmal dystonia1ADAR CL E G H103225154ORPHA1654225146920
HP:0001332HP:0001304Torsion dystonia1ADAR CL E G H103225154ORPHA1471225146920
HP:0001332HP:0001304Torsion dystonia1ADAR CL E G H103225154ORPHA1654225146920
HP:0001332HP:0002530Axial dystonia1ADAR CL E G H103615010Aicardi-Goutieres syndrome 6615010C3539013OMIM1471225146920
HP:0001332HP:0002530Axial dystonia1ADAR CL E G H103615010Aicardi-Goutieres syndrome 6615010C3539013OMIM1654225146920
HP:0001332HP:0004373Focal dystonia1ADAR CL E G H103615010Aicardi-Goutieres syndrome 6615010C3539013OMIM1471225146920
HP:0001332HP:0004373Focal dystonia1ADAR CL E G H103615010Aicardi-Goutieres syndrome 6615010C3539013OMIM1654225146920
HP:0001332HP:0007325Generalized dystonia1ADAR CL E G H103615010Aicardi-Goutieres syndrome 6615010C3539013OMIM1471225146920
HP:0001332HP:0007325Generalized dystonia1ADAR CL E G H103615010Aicardi-Goutieres syndrome 6615010C3539013OMIM1654225146920
HP:0001332HP:0032005Hemidystonia1ADAR CL E G H103615010Aicardi-Goutieres syndrome 6615010C3539013OMIM1471225146920
HP:0001332HP:0032005Hemidystonia1ADAR CL E G H103615010Aicardi-Goutieres syndrome 6615010C3539013OMIM1654225146920
HP:0001332HP:0002451Limb dystonia1ADAR CL E G H103615010Aicardi-Goutieres syndrome 6615010C3539013OMIM1471225146920
HP:0001332HP:0002451Limb dystonia1ADAR CL E G H103615010Aicardi-Goutieres syndrome 6615010C3539013OMIM1654225146920
HP:0001332HP:0010553Oculogyric crisis1ADAR CL E G H103615010Aicardi-Goutieres syndrome 6615010C3539013OMIM1471225146920
HP:0001332HP:0010553Oculogyric crisis1ADAR CL E G H103615010Aicardi-Goutieres syndrome 6615010C3539013OMIM1654225146920
HP:0001332HP:0002268Paroxysmal dystonia1ADAR CL E G H103615010Aicardi-Goutieres syndrome 6615010C3539013OMIM1471225146920
HP:0001332HP:0002268Paroxysmal dystonia1ADAR CL E G H103615010Aicardi-Goutieres syndrome 6615010C3539013OMIM1654225146920
HP:0001332HP:0001304Torsion dystonia1ADAR CL E G H103615010Aicardi-Goutieres syndrome 6615010C3539013OMIM1471225146920
HP:0001332HP:0001304Torsion dystonia1ADAR CL E G H103615010Aicardi-Goutieres syndrome 6615010C3539013OMIM1654225146920
HP:0001332HP:0002530Axial dystonia1ADCY5 CL E G H111324588ORPHA1293236600293
HP:0001332HP:0002530Axial dystonia1ADCY5 CL E G H111324588ORPHA1365236600293
HP:0001332HP:0004373Focal dystonia1ADCY5 CL E G H111324588ORPHA1293236600293
HP:0001332HP:0004373Focal dystonia1ADCY5 CL E G H111324588ORPHA1365236600293
HP:0001332HP:0007325Generalized dystonia1ADCY5 CL E G H111324588ORPHA1293236600293
HP:0001332HP:0007325Generalized dystonia1ADCY5 CL E G H111324588ORPHA1365236600293
HP:0001332HP:0032005Hemidystonia1ADCY5 CL E G H111324588ORPHA1293236600293
HP:0001332HP:0032005Hemidystonia1ADCY5 CL E G H111324588ORPHA1365236600293
HP:0001332HP:0002451Limb dystonia1ADCY5 CL E G H111324588ORPHA1293236600293
HP:0001332HP:0002451Limb dystonia1ADCY5 CL E G H111324588ORPHA1365236600293
HP:0001332HP:0010553Oculogyric crisis1ADCY5 CL E G H111324588ORPHA1293236600293
HP:0001332HP:0010553Oculogyric crisis1ADCY5 CL E G H111324588ORPHA1365236600293
HP:0001332HP:0002268Paroxysmal dystonia1ADCY5 CL E G H111324588ORPHA1293236600293
HP:0001332HP:0002268Paroxysmal dystonia1ADCY5 CL E G H111324588ORPHA1365236600293
HP:0001332HP:0001304Torsion dystonia1ADCY5 CL E G H111324588ORPHA1293236600293
HP:0001332HP:0001304Torsion dystonia1ADCY5 CL E G H111324588ORPHA1365236600293
HP:0001332HP:0002530Axial dystonia1ADCY5 CL E G H111606703Dyskinesia, familial, with facial myokymia606703C1847627OMIM1293236600293
HP:0001332HP:0002530Axial dystonia1ADCY5 CL E G H111606703Dyskinesia, familial, with facial myokymia606703C1847627OMIM1365236600293
HP:0001332HP:0004373Focal dystonia1ADCY5 CL E G H111606703Dyskinesia, familial, with facial myokymia606703C1847627OMIM1293236600293
HP:0001332HP:0004373Focal dystonia1ADCY5 CL E G H111606703Dyskinesia, familial, with facial myokymia606703C1847627OMIM1365236600293
HP:0001332HP:0007325Generalized dystonia1ADCY5 CL E G H111606703Dyskinesia, familial, with facial myokymia606703C1847627OMIM1293236600293
HP:0001332HP:0007325Generalized dystonia1ADCY5 CL E G H111606703Dyskinesia, familial, with facial myokymia606703C1847627OMIM1365236600293
HP:0001332HP:0032005Hemidystonia1ADCY5 CL E G H111606703Dyskinesia, familial, with facial myokymia606703C1847627OMIM1293236600293
HP:0001332HP:0032005Hemidystonia1ADCY5 CL E G H111606703Dyskinesia, familial, with facial myokymia606703C1847627OMIM1365236600293
HP:0001332HP:0002451Limb dystonia1ADCY5 CL E G H111606703Dyskinesia, familial, with facial myokymia606703C1847627OMIM1293236600293
HP:0001332HP:0002451Limb dystonia1ADCY5 CL E G H111606703Dyskinesia, familial, with facial myokymia606703C1847627OMIM1365236600293
HP:0001332HP:0010553Oculogyric crisis1ADCY5 CL E G H111606703Dyskinesia, familial, with facial myokymia606703C1847627OMIM1293236600293
HP:0001332HP:0010553Oculogyric crisis1ADCY5 CL E G H111606703Dyskinesia, familial, with facial myokymia606703C1847627OMIM1365236600293
HP:0001332HP:0002268Paroxysmal dystonia1ADCY5 CL E G H111606703Dyskinesia, familial, with facial myokymia606703C1847627OMIM1293236600293
HP:0001332HP:0002268Paroxysmal dystonia1ADCY5 CL E G H111606703Dyskinesia, familial, with facial myokymia606703C1847627OMIM1365236600293
HP:0001332HP:0001304Torsion dystonia1ADCY5 CL E G H111606703Dyskinesia, familial, with facial myokymia606703C1847627OMIM1293236600293
HP:0001332HP:0001304Torsion dystonia1ADCY5 CL E G H111606703Dyskinesia, familial, with facial myokymia606703C1847627OMIM1365236600293
HP:0001332HP:0002530Axial dystonia1AFG3L2 CL E G H10939313772ORPHA1349315604581
HP:0001332HP:0002530Axial dystonia1AFG3L2 CL E G H10939313772ORPHA1357315604581
HP:0001332HP:0004373Focal dystonia1AFG3L2 CL E G H10939313772ORPHA1349315604581
HP:0001332HP:0004373Focal dystonia1AFG3L2 CL E G H10939313772ORPHA1357315604581
HP:0001332HP:0007325Generalized dystonia1AFG3L2 CL E G H10939313772ORPHA1349315604581
HP:0001332HP:0007325Generalized dystonia1AFG3L2 CL E G H10939313772ORPHA1357315604581
HP:0001332HP:0032005Hemidystonia1AFG3L2 CL E G H10939313772ORPHA1349315604581
HP:0001332HP:0032005Hemidystonia1AFG3L2 CL E G H10939313772ORPHA1357315604581
HP:0001332HP:0002451Limb dystonia1AFG3L2 CL E G H10939313772ORPHA1349315604581
HP:0001332HP:0002451Limb dystonia1AFG3L2 CL E G H10939313772ORPHA1357315604581
HP:0001332HP:0010553Oculogyric crisis1AFG3L2 CL E G H10939313772ORPHA1349315604581
HP:0001332HP:0010553Oculogyric crisis1AFG3L2 CL E G H10939313772ORPHA1357315604581
HP:0001332HP:0002268Paroxysmal dystonia1AFG3L2 CL E G H10939313772ORPHA1349315604581
HP:0001332HP:0002268Paroxysmal dystonia1AFG3L2 CL E G H10939313772ORPHA1357315604581
HP:0001332HP:0001304Torsion dystonia1AFG3L2 CL E G H10939313772ORPHA1349315604581
HP:0001332HP:0001304Torsion dystonia1AFG3L2 CL E G H10939313772ORPHA1357315604581
HP:0001332HP:0002530Axial dystonia1AFG3L2 CL E G H10939614487Spastic ataxia 5, autosomal recessive614487C3280977OMIM1349315604581
HP:0001332HP:0002530Axial dystonia1AFG3L2 CL E G H10939614487Spastic ataxia 5, autosomal recessive614487C3280977OMIM1357315604581
HP:0001332HP:0004373Focal dystonia1AFG3L2 CL E G H10939614487Spastic ataxia 5, autosomal recessive614487C3280977OMIM1349315604581
HP:0001332HP:0004373Focal dystonia1AFG3L2 CL E G H10939614487Spastic ataxia 5, autosomal recessive614487C3280977OMIM1357315604581
HP:0001332HP:0007325Generalized dystonia1AFG3L2 CL E G H10939614487Spastic ataxia 5, autosomal recessive614487C3280977OMIM1349315604581
HP:0001332HP:0007325Generalized dystonia1AFG3L2 CL E G H10939614487Spastic ataxia 5, autosomal recessive614487C3280977OMIM1357315604581
HP:0001332HP:0032005Hemidystonia1AFG3L2 CL E G H10939614487Spastic ataxia 5, autosomal recessive614487C3280977OMIM1349315604581
HP:0001332HP:0032005Hemidystonia1AFG3L2 CL E G H10939614487Spastic ataxia 5, autosomal recessive614487C3280977OMIM1357315604581
HP:0001332HP:0002451Limb dystonia1AFG3L2 CL E G H10939614487Spastic ataxia 5, autosomal recessive614487C3280977OMIM1349315604581
HP:0001332HP:0002451Limb dystonia1AFG3L2 CL E G H10939614487Spastic ataxia 5, autosomal recessive614487C3280977OMIM1357315604581
HP:0001332HP:0010553Oculogyric crisis1AFG3L2 CL E G H10939614487Spastic ataxia 5, autosomal recessive614487C3280977OMIM1349315604581
HP:0001332HP:0010553Oculogyric crisis1AFG3L2 CL E G H10939614487Spastic ataxia 5, autosomal recessive614487C3280977OMIM1357315604581
HP:0001332HP:0002268Paroxysmal dystonia1AFG3L2 CL E G H10939614487Spastic ataxia 5, autosomal recessive614487C3280977OMIM1349315604581
HP:0001332HP:0002268Paroxysmal dystonia1AFG3L2 CL E G H10939614487Spastic ataxia 5, autosomal recessive614487C3280977OMIM1357315604581
HP:0001332HP:0001304Torsion dystonia1AFG3L2 CL E G H10939614487Spastic ataxia 5, autosomal recessive614487C3280977OMIM1349315604581
HP:0001332HP:0001304Torsion dystonia1AFG3L2 CL E G H10939614487Spastic ataxia 5, autosomal recessive614487C3280977OMIM1357315604581
HP:0001332HP:0002530Axial dystonia1ALDH6A1 CL E G H4329614105Methylmalonate semialdehyde dehydrogenase deficiency614105C3279840OMIM11337179603178
HP:0001332HP:0002530Axial dystonia1ALDH6A1 CL E G H4329614105Methylmalonate semialdehyde dehydrogenase deficiency614105C3279840OMIM11467179603178
HP:0001332HP:0004373Focal dystonia1ALDH6A1 CL E G H4329614105Methylmalonate semialdehyde dehydrogenase deficiency614105C3279840OMIM11337179603178
HP:0001332HP:0004373Focal dystonia1ALDH6A1 CL E G H4329614105Methylmalonate semialdehyde dehydrogenase deficiency614105C3279840OMIM11467179603178
HP:0001332HP:0007325Generalized dystonia1ALDH6A1 CL E G H4329614105Methylmalonate semialdehyde dehydrogenase deficiency614105C3279840OMIM11337179603178
HP:0001332HP:0007325Generalized dystonia1ALDH6A1 CL E G H4329614105Methylmalonate semialdehyde dehydrogenase deficiency614105C3279840OMIM11467179603178
HP:0001332HP:0032005Hemidystonia1ALDH6A1 CL E G H4329614105Methylmalonate semialdehyde dehydrogenase deficiency614105C3279840OMIM11337179603178
HP:0001332HP:0032005Hemidystonia1ALDH6A1 CL E