Human Phenotype Ontology 
Grandparent Node:
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Involuntary movements (HP:0004305)help
Parent Node:
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Tremor (HP:0001337)help
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Action tremor (HP:0002345)help
Term ID: 2345
Name: Action tremor
Synonym: Ataxic tremor
Definition: A tremor present when the limbs are active, either when outstretched in a certain position or throughout a voluntary movement.
Comments:
Reference: HP:0002345
Genes and Diseases:
 
       Child Nodes:
........expandPostural tremor (HP:0002174) help
................... HP:0007351 Upper limb postural tremor
........expandVocal tremor (HP:0012477) help
........expandIsometric tremor (HP:0030185) help
........expandKinetic tremor (HP:0030186) help
................... HP:0002080 Intention tremor
........expandTitubation (HP:0030187) help
................... HP:0002599 Head titubation
................... HP:0030147 Truncal titubation

 Sister Nodes: 
..expandResting tremor (HP:0002322) help
..expandRubral tremor (HP:0030665) help
..expandTremor by anatomical site (HP:0030188) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0002345HP:0002345Action tremor0AARS1 CL E G H1620OMIM:619691TRICHOTHIODYSTROPHY 8, NONPHOTOSENSITIVE; TTD8
HP:0002345HP:0002345Action tremor0ABCB7 CL E G H2248OMIM:301310Anemia, sideroblastic, and spinocerebellar ataxia35
HP:0002345HP:0002345Action tremor0ABHD12 CL E G H2609015868OMIM:612674Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract50
HP:0002345HP:0002345Action tremor0ACBD5 CL E G H9145223338OMIM:618863RETINAL DYSTROPHY WITH LEUKODYSTROPHY; RDLKD1
HP:0002345HP:0002345Action tremor0ADPRS CL E G H5493621304OMIM:618170Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures
HP:0002345HP:0002345Action tremor0AFG3L2 CL E G H10939315ORPHA:101109Spinocerebellar ataxia type 2886
HP:0002345HP:0002345Action tremor0AKT1 CL E G H207391OMIM:615109Cowden syndrome 654
HP:0002345HP:0002345Action tremor0ALDH18A1 CL E G H58329722ORPHA:447757Autosomal dominant spastic paraplegia type 9B89
HP:0002345HP:0002345Action tremor0ALDH18A1 CL E G H58329722ORPHA:447760Autosomal recessive spastic paraplegia type 9B89
HP:0002345HP:0002345Action tremor0ALS2 CL E G H57679443OMIM:205100Amyotrophic lateral sclerosis 2, juvenile114
HP:0002345HP:0002345Action tremor0ALS2 CL E G H57679443ORPHA:300605Juvenile amyotrophic lateral sclerosis114
HP:0002345HP:0002345Action tremor0AMACR CL E G H23600451OMIM:614307Alpha-methylacyl-CoA racemase deficiency44
HP:0002345HP:0002345Action tremor0ANO10 CL E G H5512925519ORPHA:284289Adult-onset autosomal recessive cerebellar ataxia64
HP:0002345HP:0002345Action tremor0ANO10 CL E G H5512925519OMIM:613728Spinocerebellar ataxia, autosomal recessive 1064
HP:0002345HP:0002345Action tremor0ANO3 CL E G H6398214004ORPHA:420485Cranio-cervical dystonia with laryngeal and upper-limb involvement17
HP:0002345HP:0002345Action tremor0ARSA CL E G H410713ORPHA:309271Metachromatic leukodystrophy, adult form253
HP:0002345HP:0002345Action tremor0ARSA CL E G H410713ORPHA:309263Metachromatic leukodystrophy, juvenile form253
HP:0002345HP:0002345Action tremor0ATCAY CL E G H85300779ORPHA:94122Cerebellar ataxia, Cayman type72
HP:0002345HP:0002345Action tremor0ATCAY CL E G H85300779OMIM:601238Cerebellar ataxia, Cayman type72
HP:0002345HP:0002345Action tremor0ATM CL E G H472795OMIM:208900ATAXIA-TELANGIECTASIA3267
HP:0002345HP:0002345Action tremor0ATN1 CL E G H18223033ORPHA:101Dentatorubral pallidoluysian atrophyHP:0040282 - Frequent16
HP:0002345HP:0002345Action tremor0ATP13A2 CL E G H2340030213ORPHA:314632ATP13A2-related juvenile neuronal ceroid lipofuscinosis100
HP:0002345HP:0002345Action tremor0ATP2B3 CL E G H492816OMIM:302500Spinocerebellar ataxia, X-linked 1.19
HP:0002345HP:0002345Action tremor0ATP2B3 CL E G H492816ORPHA:314978X-linked non progressive cerebellar ataxiaHP:0040282 - Frequent19
HP:0002345HP:0002345Action tremor0ATP6 CL E G H45087414ORPHA:104Leber hereditary optic neuropathy
HP:0002345HP:0002345Action tremor0ATP6 CL E G H45087414OMIM:535000Leber optic atrophy
HP:0002345HP:0002345Action tremor0ATP6AP2 CL E G H1015918305OMIM:300423MENTAL RETARDATION, X-LINKED, SYNDROMIC, HEDERA TYPE; MRXSH36
HP:0002345HP:0002345Action tremor0ATP6AP2 CL E G H1015918305ORPHA:93952X-linked intellectual disability, Hedera typeHP:0040283 - Occasional36
HP:0002345HP:0002345Action tremor0ATXN1 CL E G H631010548ORPHA:98755Spinocerebellar ataxia type 119
HP:0002345HP:0002345Action tremor0ATXN10 CL E G H2581410549ORPHA:98761Spinocerebellar ataxia type 109
HP:0002345HP:0002345Action tremor0ATXN2 CL E G H631110555OMIM:183090Spinocerebellar ataxia 2.11
HP:0002345HP:0002345Action tremor0ATXN2 CL E G H631110555ORPHA:98756Spinocerebellar ataxia type 211
HP:0002345HP:0002345Action tremor0BRAT1 CL E G H22192721701OMIM:618056Neurodevelopmental disorder with cerebellar atrophy and with or without seizures20
HP:0002345HP:0002345Action tremor0BSCL2 CL E G H2658015832ORPHA:100998Autosomal dominant spastic paraplegia type 17105
HP:0002345HP:0002345Action tremor0BSCL2 CL E G H2658015832OMIM:270685Spastic paraplegia 17105
HP:0002345HP:0002345Action tremor0CACNA1A CL E G H7731388ORPHA:98758Spinocerebellar ataxia type 6449
HP:0002345HP:0002345Action tremor0CACNA1C CL E G H7751390OMIM:620029572
HP:0002345HP:0002345Action tremor0CACNA1G CL E G H89131394ORPHA:458803Spinocerebellar ataxia type 4232
HP:0002345HP:0002345Action tremor0CAMTA1 CL E G H2326118806ORPHA:314647Non-progressive cerebellar ataxia with intellectual disability34
HP:0002345HP:0002345Action tremor0CARS1 CL E G H8331493ORPHA:33364Trichothiodystrophy
HP:0002345HP:0002345Action tremor0CARS2 CL E G H7958725695ORPHA:477774Combined oxidative phosphorylation defect type 2735
HP:0002345HP:0002345Action tremor0CCDC88C CL E G H44019319967OMIM:616053Spinocerebellar ataxia 4054
HP:0002345HP:0002345Action tremor0CCDC88C CL E G H44019319967ORPHA:423275Spinocerebellar ataxia type 4054
HP:0002345HP:0002345Action tremor0CLCN2 CL E G H11812020OMIM:615651Leukoencephalopathy with ataxia44
HP:0002345HP:0002345Action tremor0COL6A3 CL E G H12932213OMIM:616411Dystonia 27.702
HP:0002345HP:0002345Action tremor0COL6A3 CL E G H12932213ORPHA:464440Primary dystonia, DYT27 typeHP:0040282 - Frequent702
HP:0002345HP:0002345Action tremor0COQ2 CL E G H2723525223ORPHA:227510Multiple system atrophy, cerebellar type54
HP:0002345HP:0002345Action tremor0COQ2 CL E G H2723525223ORPHA:98933Multiple system atrophy, parkinsonian type54
HP:0002345HP:0002345Action tremor0COX1 CL E G H45127419ORPHA:104Leber hereditary optic neuropathy
HP:0002345HP:0002345Action tremor0COX3 CL E G H45147422ORPHA:104Leber hereditary optic neuropathy
HP:0002345HP:0002345Action tremor0COX3 CL E G H45147422OMIM:535000Leber optic atrophy
HP:0002345HP:0002345Action tremor0CSTB CL E G H14762482ORPHA:308Progressive myoclonic epilepsy type 151
HP:0002345HP:0002345Action tremor0CTDP1 CL E G H91502498ORPHA:48431Congenital cataracts-facial dysmorphism-neuropathy syndrome17
HP:0002345HP:0002345Action tremor0CWF19L1 CL E G H5528025613ORPHA:453521Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency9
HP:0002345HP:0002345Action tremor0CWF19L1 CL E G H5528025613OMIM:616127Spinocerebellar ataxia, autosomal recessive 179
HP:0002345HP:0002345Action tremor0CYP7B1 CL E G H94202652OMIM:270800Spastic paraplegia 5A, autosomal recessive57
HP:0002345HP:0002345Action tremor0CYTB CL E G H45197427ORPHA:104Leber hereditary optic neuropathy
HP:0002345HP:0002345Action tremor0CYTB CL E G H45197427OMIM:535000Leber optic atrophy
HP:0002345HP:0002345Action tremor0DNAJC19 CL E G H13111830528ORPHA:66634Dilated cardiomyopathy with ataxiaHP:0040284 - Very rare25
HP:0002345HP:0002345Action tremor0DNAJC30 CL E G H8427716410ORPHA:104Leber hereditary optic neuropathy
HP:0002345HP:0002345Action tremor0DRD3 CL E G H18143024OMIM:190300Tremor, hereditary essential, 1.21
HP:0002345HP:0002345Action tremor0EIF2AK2 CL E G H56109437OMIM:618877LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME; LEUDEN
HP:0002345HP:0002345Action tremor0ELOVL4 CL E G H678514415OMIM:133190Spinocerebellar ataxia 3462
HP:0002345HP:0002345Action tremor0EPRS1 CL E G H20583418OMIM:617951Leukodystrophy, hypomyelinating, 15
HP:0002345HP:0002345Action tremor0ERCC2 CL E G H20683434ORPHA:33364Trichothiodystrophy106
HP:0002345HP:0002345Action tremor0ERCC3 CL E G H20713435ORPHA:33364Trichothiodystrophy54
HP:0002345HP:0002345Action tremor0ERCC6 CL E G H20743438ORPHA:90324Cockayne syndrome type 3199
HP:0002345HP:0002345Action tremor0ERCC8 CL E G H11613439ORPHA:90324Cockayne syndrome type 355
HP:0002345HP:0002345Action tremor0FARS2 CL E G H1066721062ORPHA:466722Autosomal recessive spastic paraplegia type 7736
HP:0002345HP:0002345Action tremor0FBXO7 CL E G H2579313586ORPHA:171695Parkinsonian-pyramidal syndrome36
HP:0002345HP:0002345Action tremor0FGF14 CL E G H22593671OMIM:193003Nystagmus 4, congenital, autosomal dominant47
HP:0002345HP:0002345Action tremor0FLVCR1 CL E G H2898224682ORPHA:88628Posterior column ataxia-retinitis pigmentosa syndrome111
HP:0002345HP:0002345Action tremor0FMR1 CL E G H23323775OMIM:300623Fragile X tremor/ataxia syndrome30
HP:0002345HP:0002345Action tremor0FMR1 CL E G H23323775ORPHA:93256Fragile X-associated tremor/ataxia syndrome30
HP:0002345HP:0002345Action tremor0FUS CL E G H25214010ORPHA:300605Juvenile amyotrophic lateral sclerosis105
HP:0002345HP:0002345Action tremor0FUS CL E G H25214010OMIM:614782TREMOR, HEREDITARY ESSENTIAL, 4; ETM4105
HP:0002345HP:0002345Action tremor0FXN CL E G H23953951ORPHA:95Friedreich ataxia18
HP:0002345HP:0002345Action tremor0GABRA1 CL E G H25544075ORPHA:33069Dravet syndromeHP:0040283 - Occasional134
HP:0002345HP:0002345Action tremor0GABRG2 CL E G H25664087ORPHA:33069Dravet syndromeHP:0040283 - Occasional139
HP:0002345HP:0002345Action tremor0GALT CL E G H25924135ORPHA:79239Classic galactosemiaHP:0040282 - Frequent351
HP:0002345HP:0002345Action tremor0GCH1 CL E G H26434193ORPHA:98808Autosomal dominant dopa-responsive dystonia86
HP:0002345HP:0002345Action tremor0GCH1 CL E G H26434193OMIM:128230Dystonia, DOPA-responsive, with or without hyperphenylalaninemia86
HP:0002345HP:0002345Action tremor0GJB1 CL E G H27054283ORPHA:1175X-linked progressive cerebellar ataxia107
HP:0002345HP:0002345Action tremor0GJC2 CL E G H5716517494OMIM:608804Leukodystrophy, hypomyelinating, 237
HP:0002345HP:0002345Action tremor0GJC2 CL E G H5716517494OMIM:613206Spastic paraplegia 44, autosomal recessive37
HP:0002345HP:0002345Action tremor0GSS CL E G H29374624OMIM:266130Glutathione synthetase deficiency39
HP:0002345HP:0002345Action tremor0GTF2E2 CL E G H29614651ORPHA:33364Trichothiodystrophy2
HP:0002345HP:0002345Action tremor0GTF2H5 CL E G H40467221157ORPHA:33364Trichothiodystrophy3
HP:0002345HP:0002345Action tremor0HIBCH CL E G H262754908ORPHA:88639Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency32
HP:0002345HP:0002345Action tremor0HSD17B4 CL E G H32955213OMIM:233400Perrault syndrome 198
HP:0002345HP:0002345Action tremor0HYCC1 CL E G H8466824587OMIM:610532Leukodystrophy, hypomyelinating, 5
HP:0002345HP:0002345Action tremor0IFRD1 CL E G H34755456ORPHA:98771Spinocerebellar ataxia type 181
HP:0002345HP:0002345Action tremor0IMPDH2 CL E G H36156053ORPHA:98808Autosomal dominant dopa-responsive dystonia1
HP:0002345HP:0002345Action tremor0ITM2B CL E G H94456174OMIM:117300Dementia, familial danish3
HP:0002345HP:0002345Action tremor0ITPR1 CL E G H37086180OMIM:206700Gillespie syndrome177
HP:0002345HP:0002345Action tremor0ITPR1 CL E G H37086180OMIM:606658Spinocerebellar ataxia 15.177
HP:0002345HP:0002345Action tremor0ITPR1 CL E G H37086180OMIM:117360Spinocerebellar ataxia 29177
HP:0002345HP:0002345Action tremor0ITPR1 CL E G H37086180ORPHA:98769Spinocerebellar ataxia type 15/16HP:0040282 - Frequent177
HP:0002345HP:0002345Action tremor0ITPR1 CL E G H37086180ORPHA:208513Spinocerebellar ataxia type 29177
HP:0002345HP:0002345Action tremor0JPH3 CL E G H5733814203OMIM:606438Huntington disease-like 2.2
HP:0002345HP:0002345Action tremor0KCNC3 CL E G H37486235ORPHA:98768Spinocerebellar ataxia type 1317
HP:0002345HP:0002345Action tremor0KCND3 CL E G H37526239OMIM:607346Spinocerebellar ataxia 1935
HP:0002345HP:0002345Action tremor0KCNJ10 CL E G H37666256ORPHA:199343EAST syndromeHP:0040282 - Frequent121
HP:0002345HP:0002345Action tremor0KCNJ10 CL E G H37666256OMIM:612780Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance121
HP:0002345HP:0002345Action tremor0KCNK4 CL E G H508016279OMIM:618381Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome
HP:0002345HP:0002345Action tremor0KCNN2 CL E G H37816291OMIM:619725NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE MOVEMENT OR BEHAVIORAL ABNORMALITIES; NEDMAB
HP:0002345HP:0002345Action tremor0KIF1C CL E G H107496317ORPHA:397946Autosomal spastic paraplegia type 5838
HP:0002345HP:0002345Action tremor0KIF1C CL E G H107496317OMIM:611302Spastic ataxia 2, autosomal recessive38
HP:0002345HP:0002345Action tremor0KNSTRN CL E G H9041730767ORPHA:221139Combined immunodeficiency with faciooculoskeletal anomalies1
HP:0002345HP:0002345Action tremor0LAMA1 CL E G H2842176481ORPHA:370022Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome35
HP:0002345HP:0002345Action tremor0LEMD2 CL E G H22149621244OMIM:619322MARBACH-RUSTAD PROGEROID SYNDROME; MARUPS1
HP:0002345HP:0002345Action tremor0LMAN2L CL E G H8156219263OMIM:6178631
HP:0002345HP:0002345Action tremor0LMNB1 CL E G H40016637ORPHA:99027Adult-onset autosomal dominant leukodystrophyHP:0040283 - Occasional44
HP:0002345HP:0002345Action tremor0MAG CL E G H40996783ORPHA:459056Autosomal recessive spastic paraplegia type 754
HP:0002345HP:0002345Action tremor0MAOA CL E G H41286833OMIM:300615Brunner syndrome22
HP:0002345HP:0002345Action tremor0MFN2 CL E G H992716877ORPHA:99947Autosomal dominant Charcot-Marie-Tooth disease type 2A2203
HP:0002345HP:0002345Action tremor0MPLKIP CL E G H13664716002ORPHA:33364Trichothiodystrophy9
HP:0002345HP:0002345Action tremor0MPZ CL E G H43597225ORPHA:3115Roussy-Lévy syndrome134
HP:0002345HP:0002345Action tremor0MPZ CL E G H43597225OMIM:180800Roussy-Levy hereditary areflexic dystasia.134
HP:0002345HP:0002345Action tremor0MRE11 CL E G H43617230ORPHA:251347Ataxia-telangiectasia-like disorder532
HP:0002345HP:0002345Action tremor0MYBPC1 CL E G H46047549OMIM:618524MYOPATHY, CONGENITAL, WITH TREMOR; MYOTREM66
HP:0002345HP:0002345Action tremor0ND1 CL E G H45357455ORPHA:104Leber hereditary optic neuropathy
HP:0002345HP:0002345Action tremor0ND1 CL E G H45357455OMIM:535000Leber optic atrophy
HP:0002345HP:0002345Action tremor0ND2 CL E G H45367456ORPHA:104Leber hereditary optic neuropathy
HP:0002345HP:0002345Action tremor0ND2 CL E G H45367456OMIM:535000Leber optic atrophy
HP:0002345HP:0002345Action tremor0ND4 CL E G H45387459ORPHA:104Leber hereditary optic neuropathy
HP:0002345HP:0002345Action tremor0ND4 CL E G H45387459OMIM:535000Leber optic atrophy
HP:0002345HP:0002345Action tremor0ND4L CL E G H45397460ORPHA:104Leber hereditary optic neuropathy
HP:0002345HP:0002345Action tremor0ND4L CL E G H45397460OMIM:535000Leber optic atrophy
HP:0002345HP:0002345Action tremor0ND5 CL E G H45407461ORPHA:104Leber hereditary optic neuropathy
HP:0002345HP:0002345Action tremor0ND5 CL E G H45407461OMIM:535000Leber optic atrophy
HP:0002345HP:0002345Action tremor0ND6 CL E G H45417462ORPHA:104Leber hereditary optic neuropathy
HP:0002345HP:0002345Action tremor0ND6 CL E G H45417462OMIM:535000Leber optic atrophy
HP:0002345HP:0002345Action tremor0NDRG1 CL E G H103977679ORPHA:99950Charcot-Marie-Tooth disease type 4D82
HP:0002345HP:0002345Action tremor0NDUFS2 CL E G H47207708ORPHA:104Leber hereditary optic neuropathy65
HP:0002345HP:0002345Action tremor0NFASC CL E G H2311429866OMIM:618356Neurodevelopmental disorder with central and peripheral motor dysfunction
HP:0002345HP:0002345Action tremor0NGLY1 CL E G H5576817646ORPHA:404454Alacrimia-choreoathetosis-liver dysfunction syndromeHP:0040283 - Occasional32
HP:0002345HP:0002345Action tremor0NGLY1 CL E G H5576817646OMIM:615273Congenital disorder of deglycosylation32
HP:0002345HP:0002345Action tremor0NIPA1 CL E G H12360617043ORPHA:100988Autosomal dominant spastic paraplegia type 6117
HP:0002345HP:0002345Action tremor0NKX2-1 CL E G H708011825ORPHA:209905Brain-lung-thyroid syndrome51
HP:0002345HP:0002345Action tremor0NKX6-2 CL E G H8450419321ORPHA:527497NKX6-2-related autosomal recessive hypomyelinating leukodystrophy2
HP:0002345HP:0002345Action tremor0NKX6-2 CL E G H8450419321OMIM:617560Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy2
HP:0002345HP:0002345Action tremor0NONO CL E G H48417871ORPHA:466791Macrocephaly-intellectual disability-left ventricular non compaction syndrome10
HP:0002345HP:0002345Action tremor0NOP56 CL E G H1052815911ORPHA:276198Spinocerebellar ataxia type 369
HP:0002345HP:0002345Action tremor0NOTCH2NLC CL E G H10099671753924OMIM:618866TREMOR, HEREDITARY ESSENTIAL, 6; ETM6
HP:0002345HP:0002345Action tremor0NR4A2 CL E G H49297981OMIM:61991127
HP:0002345HP:0002345Action tremor0NR4A2 CL E G H49297981ORPHA:98808Autosomal dominant dopa-responsive dystonia27
HP:0002345HP:0002345Action tremor0OPA3 CL E G H802078142ORPHA:67036Autosomal dominant optic atrophy and cataract163
HP:0002345HP:0002345Action tremor0OPHN1 CL E G H49838148ORPHA:137831X-linked intellectual disability-cerebellar hypoplasia syndrome55
HP:0002345HP:0002345Action tremor0PARK7 CL E G H1131516369OMIM:606324PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET; PARK723
HP:0002345HP:0002345Action tremor0PCDH19 CL E G H5752614270ORPHA:33069Dravet syndromeHP:0040283 - Occasional225
HP:0002345HP:0002345Action tremor0PEX10 CL E G H51928851OMIM:614871Peroxisome biogenesis disorder 6B75
HP:0002345HP:0002345Action tremor0PI4KA CL E G H52978983OMIM:619708GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 2; GIDID211
HP:0002345HP:0002345Action tremor0PIGA CL E G H52778957OMIM:301072NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS; NEDEPH46
HP:0002345HP:0002345Action tremor0PIK3CA CL E G H52908975OMIM:615108Cowden syndrome 5162
HP:0002345HP:0002345Action tremor0PIK3CD CL E G H52938977ORPHA:221139Combined immunodeficiency with faciooculoskeletal anomalies9
HP:0002345HP:0002345Action tremor0PIK3R5 CL E G H2353330035ORPHA:64753Spinocerebellar ataxia with axonal neuropathy type 211
HP:0002345HP:0002345Action tremor0PITRM1 CL E G H1053117663OMIM:619405SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 30; SCAR301
HP:0002345HP:0002345Action tremor0PLA2G6 CL E G H83989039OMIM:610217Neurodegeneration with brain iron accumulation 2B133
HP:0002345HP:0002345Action tremor0PLA2G6 CL E G H83989039OMIM:612953Parkinson disease 14, autosomal recessive133
HP:0002345HP:0002345Action tremor0PLP1 CL E G H53549086OMIM:312080Pelizaeus-Merzbacher disease60
HP:0002345HP:0002345Action tremor0PLP1 CL E G H53549086ORPHA:280219Pelizaeus-Merzbacher disease, classic form60
HP:0002345HP:0002345Action tremor0PLP1 CL E G H53549086ORPHA:280210Pelizaeus-Merzbacher disease, connatal form60
HP:0002345HP:0002345Action tremor0PMM2 CL E G H53739115OMIM:212065Congenital disorder of glycosylation, type Ia150
HP:0002345HP:0002345Action tremor0PMP22 CL E G H53769118ORPHA:3115Roussy-Lévy syndrome79
HP:0002345HP:0002345Action tremor0PMP22 CL E G H53769118OMIM:180800Roussy-Levy hereditary areflexic dystasia.79
HP:0002345HP:0002345Action tremor0PNPLA6 CL E G H1090816268OMIM:215470Boucher-Neuhauser syndrome103
HP:0002345HP:0002345Action tremor0POLG CL E G H54289179ORPHA:254886Autosomal recessive progressive external ophthalmoplegiaHP:0040283 - Occasional464
HP:0002345HP:0002345Action tremor0POLG CL E G H54289179OMIM:258450Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive464
HP:0002345HP:0002345Action tremor0POLR3A CL E G H1112830074OMIM:607694Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism138
HP:0002345HP:0002345Action tremor0POLR3A CL E G H1112830074ORPHA:447896Tremor-ataxia-central hypomyelination syndrome138
HP:0002345HP:0002345Action tremor0POLR3A CL E G H1112830074OMIM:264090Wiedemann-Rautenstrauch syndrome138
HP:0002345HP:0002345Action tremor0POLR3A CL E G H1112830074ORPHA:3455Wiedemann-Rautenstrauch syndromeHP:0040283 - Occasional138
HP:0002345HP:0002345Action tremor0POLR3B CL E G H5570330348OMIM:607694Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism67
HP:0002345HP:0002345Action tremor0POLR3B CL E G H5570330348OMIM:614381Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism67
HP:0002345HP:0002345Action tremor0POU4F1 CL E G H54579218OMIM:619352ATAXIA, INTENTION TREMOR, AND HYPOTONIA SYNDROME, CHILDHOOD-ONSET; ATITHS
HP:0002345HP:0002345Action tremor0POU4F1 CL E G H54579218ORPHA:314647Non-progressive cerebellar ataxia with intellectual disability
HP:0002345HP:0002345Action tremor0PPP1R15B CL E G H8491914951OMIM:616817Microcephaly, short stature, and impaired glucose metabolism 22
HP:0002345HP:0002345Action tremor0PPP2R2B CL E G H55219305OMIM:604326Spinocerebellar ataxia 12.5
HP:0002345HP:0002345Action tremor0PPP2R2B CL E G H55219305ORPHA:98762Spinocerebellar ataxia type 12HP:0040282 - Frequent5
HP:0002345HP:0002345Action tremor0PRDX3 CL E G H109359354OMIM:619862
HP:0002345HP:0002345Action tremor0PRICKLE1 CL E G H14416517019ORPHA:308Progressive myoclonic epilepsy type 1133
HP:0002345HP:0002345Action tremor0PRKRA CL E G H85759438ORPHA:210571Dystonia 1637
HP:0002345HP:0002345Action tremor0PRKRA CL E G H85759438OMIM:612067Dystonia 1637
HP:0002345HP:0002345Action tremor0PSAP CL E G H56609498OMIM:610539Gaucher disease, atypical81
HP:0002345HP:0002345Action tremor0PSAP CL E G H56609498ORPHA:309271Metachromatic leukodystrophy, adult form81
HP:0002345HP:0002345Action tremor0PSAP CL E G H56609498ORPHA:309263Metachromatic leukodystrophy, juvenile form81
HP:0002345HP:0002345Action tremor0PTEN CL E G H57289588OMIM:158350Cowden syndrome 1948
HP:0002345HP:0002345Action tremor0QRICH1 CL E G H5487024713OMIM:617982VERVERI-BRADY SYNDROME; VERBRAS
HP:0002345HP:0002345Action tremor0RARS1 CL E G H59179870OMIM:616140Leukodystrophy, hypomyelinating, 9
HP:0002345HP:0002345Action tremor0RARS1 CL E G H59179870ORPHA:438114RARS-related autosomal recessive hypomyelinating leukodystrophy
HP:0002345HP:0002345Action tremor0REEP2 CL E G H5130817975ORPHA:401849Autosomal spastic paraplegia type 723
HP:0002345HP:0002345Action tremor0RFC1 CL E G H59819969ORPHA:504476Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome
HP:0002345HP:0002345Action tremor0RILPL1 CL E G H35311626814OMIM:619790OCULOPHARYNGODISTAL MYOPATHY 4; OPDM4
HP:0002345HP:0002345Action tremor0RNF113A CL E G H773712974ORPHA:33364Trichothiodystrophy3
HP:0002345HP:0002345Action tremor0RNU12 CL E G H26701019380ORPHA:512260Congenital cerebellar ataxia due to RNU12 mutation
HP:0002345HP:0002345Action tremor0SACS CL E G H2627810519ORPHA:98Autosomal recessive spastic ataxia of Charlevoix-Saguenay309
HP:0002345HP:0002345Action tremor0SCARB2 CL E G H9501665OMIM:254900Epilepsy, progressive myoclonic, 4, with or without renal failure.77
HP:0002345HP:0002345Action tremor0SCARB2 CL E G H9501665ORPHA:308Progressive myoclonic epilepsy type 177
HP:0002345HP:0002345Action tremor0SCN1A CL E G H632310585ORPHA:33069Dravet syndromeHP:0040283 - Occasional1053
HP:0002345HP:0002345Action tremor0SCN1B CL E G H632410586ORPHA:33069Dravet syndromeHP:0040283 - Occasional126
HP:0002345HP:0002345Action tremor0SCN2A CL E G H632610588ORPHA:33069Dravet syndromeHP:0040283 - Occasional427
HP:0002345HP:0002345Action tremor0SCN9A CL E G H633510597ORPHA:33069Dravet syndromeHP:0040283 - Occasional318
HP:0002345HP:0002345Action tremor0SCP2 CL E G H634210606OMIM:613724Leukoencephalopathy with dystonia and motor neuropathy4
HP:0002345HP:0002345Action tremor0SCYL1 CL E G H5741014372ORPHA:466794Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome5
HP:0002345HP:0002345Action tremor0SEMA6B CL E G H1050110739OMIM:618876EPILEPSY, PROGRESSIVE MYOCLONIC, 11; EPM11
HP:0002345HP:0002345Action tremor0SETX CL E G H23064445ORPHA:64753Spinocerebellar ataxia with axonal neuropathy type 2162
HP:0002345HP:0002345Action tremor0SIGMAR1 CL E G H102808157ORPHA:300605Juvenile amyotrophic lateral sclerosis6
HP:0002345HP:0002345Action tremor0SLC19A3 CL E G H8070416266OMIM:607483Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2)110
HP:0002345HP:0002345Action tremor0SLC25A46 CL E G H9113725198OMIM:616505Neuropathy, hereditary motor and sensory, type VIB14
HP:0002345HP:0002345Action tremor0SLC30A10 CL E G H5553225355ORPHA:309854Cirrhosis-dystonia-polycythemia-hypermanganesemia syndromeHP:0040282 - Frequent42
HP:0002345HP:0002345Action tremor0SLC6A17 CL E G H38866231399OMIM:616269Mental retardation, autosomal recessive 4812
HP:0002345HP:0002345Action tremor0SLC9A1 CL E G H654811071OMIM:616291Lichtenstein-Knorr syndrome.2
HP:0002345HP:0002345Action tremor0SMG9 CL E G H5600625763OMIM:6199952
HP:0002345HP:0002345Action tremor0SNCA CL E G H662211138ORPHA:171695Parkinsonian-pyramidal syndrome65
HP:0002345HP:0002345Action tremor0SPG11 CL E G H8020811226ORPHA:300605Juvenile amyotrophic lateral sclerosis287
HP:0002345HP:0002345Action tremor0SPTBN1 CL E G H671111275OMIM:619475DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0002345HP:0002345Action tremor0SPTBN2 CL E G H671211276ORPHA:352403Spectrin-associated autosomal recessive cerebellar ataxia126
HP:0002345HP:0002345Action tremor0SPTBN2 CL E G H671211276OMIM:600224Spinocerebellar ataxia 5126
HP:0002345HP:0002345Action tremor0SPTBN2 CL E G H671211276OMIM:615386Spinocerebellar ataxia, autosomal recessive 14126
HP:0002345HP:0002345Action tremor0SPTLC1 CL E G H1055811277ORPHA:300605Juvenile amyotrophic lateral sclerosis54
HP:0002345HP:0002345Action tremor0STUB1 CL E G H1027311427ORPHA:412057Autosomal recessive cerebellar ataxia due to STUB1 deficiency14
HP:0002345HP:0002345Action tremor0TARS1 CL E G H689711572ORPHA:33364Trichothiodystrophy
HP:0002345HP:0002345Action tremor0TBP CL E G H690811588OMIM:607136Spinocerebellar ataxia 177
HP:0002345HP:0002345Action tremor0TECR CL E G H95244551OMIM:614020Mental retardation, autosomal recessive 1417
HP:0002345HP:0002345Action tremor0TENM4 CL E G H2601129945OMIM:616736Tremor, hereditary essential, 55
HP:0002345HP:0002345Action tremor0TGM6 CL E G H34364116255OMIM:613908Spinocerebellar ataxia 3558
HP:0002345HP:0002345Action tremor0TGM6 CL E G H34364116255ORPHA:276193Spinocerebellar ataxia type 3558
HP:0002345HP:0002345Action tremor0TH CL E G H705411782ORPHA:101150Autosomal recessive dopa-responsive dystonia80
HP:0002345HP:0002345Action tremor0THG1L CL E G H5497426053OMIM:618800SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 28; SCAR28
HP:0002345HP:0002345Action tremor0TK2 CL E G H708411831ORPHA:254886Autosomal recessive progressive external ophthalmoplegiaHP:0040283 - Occasional103
HP:0002345HP:0002345Action tremor0TMCO1 CL E G H5449918188OMIM:213980Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome6
HP:0002345HP:0002345Action tremor0TMEM106B CL E G H5466422407OMIM:617964Leukodystrophy, hypomyelinating, 16
HP:0002345HP:0002345Action tremor0TMEM240 CL E G H33945325186OMIM:607454Spinocerebellar ataxia 219
HP:0002345HP:0002345Action tremor0TMEM63A CL E G H972529118OMIM:618688LEUKODYSTROPHY, HYPOMYELINATING, 19, TRANSIENT INFANTILE; HLD19
HP:0002345HP:0002345Action tremor0TMEM70 CL E G H5496826050OMIM:614052Mitochondrial complex V (atp synthase) deficiency, nuclear type 263
HP:0002345HP:0002345Action tremor0TPK1 CL E G H2701017358OMIM:614458Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type)21
HP:0002345HP:0002345Action tremor0TPP1 CL E G H12002073ORPHA:284324Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia203
HP:0002345HP:0002345Action tremor0TPP1 CL E G H12002073OMIM:609270Spinocerebellar ataxia, autosomal recessive 7203
HP:0002345HP:0002345Action tremor0TSPOAP1 CL E G H925616831ORPHA:101150Autosomal recessive dopa-responsive dystonia2
HP:0002345HP:0002345Action tremor0TUBB4A CL E G H1038220774ORPHA:98805Primary dystonia, DYT4 type66
HP:0002345HP:0002345Action tremor0UCHL1 CL E G H734512513OMIM:615491Spastic paraplegia 79, autosomal recessive21
HP:0002345HP:0002345Action tremor0UFC1 CL E G H5150626941OMIM:618076Neurodevelopmental disorder with spasticity and poor growth
HP:0002345HP:0002345Action tremor0UROC1 CL E G H13166926444OMIM:276880Urocanase deficiency8
HP:0002345HP:0002345Action tremor0UROC1 CL E G H13166926444ORPHA:210128Urocanic aciduriaHP:0040281 - Very frequent8
HP:0002345HP:0002345Action tremor0VAPB CL E G H921712649OMIM:608627Amyotrophic lateral sclerosis 8116
HP:0002345HP:0002345Action tremor0VLDLR CL E G H743612698OMIM:224050Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1111
HP:0002345HP:0002345Action tremor0VPS13A CL E G H232301908ORPHA:2388Choreoacanthocytosis130
HP:0002345HP:0002345Action tremor0VWA3B CL E G H20040328385OMIM:616948Spinocerebellar ataxia, autosomal recessive 221
HP:0002345HP:0002345Action tremor0WARS2 CL E G H1035212730OMIM:619738PARKINSONISM-DYSTONIA 3, CHILDHOOD-ONSET; PKDYS32
HP:0002345HP:0002345Action tremor0XPNPEP3 CL E G H6392928052OMIM:613159Nephronophthisis-Like nephropathy 1109
HP:0002345HP:0002345Action tremor0YWHAG CL E G H753212852OMIM:617665Epileptic encephalopathy, early infantile, 56
HP:0002345HP:0030187Titubation1AARS1 CL E G H1620OMIM:619691TRICHOTHIODYSTROPHY 8, NONPHOTOSENSITIVE; TTD8
HP:0002345HP:0030186Kinetic tremor1ABCB7 CL E G H2248OMIM:301310Anemia, sideroblastic, and spinocerebellar ataxia35
HP:0002345HP:0030186Kinetic tremor1ABHD12 CL E G H2609015868OMIM:612674Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract50
HP:0002345HP:0030187Titubation1ACBD5 CL E G H9145223338OMIM:618863RETINAL DYSTROPHY WITH LEUKODYSTROPHY; RDLKD1
HP:0002345HP:0030186Kinetic tremor1ADPRS CL E G H5493621304OMIM:618170Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures
HP:0002345HP:0030186Kinetic tremor1AFG3L2 CL E G H10939315ORPHA:101109Spinocerebellar ataxia type 28HP:0040283 - Occasional86
HP:0002345HP:0030186Kinetic tremor1AKT1 CL E G H207391OMIM:615109Cowden syndrome 654
HP:0002345HP:0002174Postural tremor1ALDH18A1 CL E G H58329722ORPHA:447757Autosomal dominant spastic paraplegia type 9BHP:0040282 - Frequent89
HP:0002345HP:0002174Postural tremor1ALDH18A1 CL E G H58329722ORPHA:447760Autosomal recessive spastic paraplegia type 9BHP:0040282 - Frequent89
HP:0002345HP:0030187Titubation1ALS2 CL E G H57679443OMIM:205100Amyotrophic lateral sclerosis 2, juvenile114
HP:0002345HP:0030187Titubation1ALS2 CL E G H57679443ORPHA:300605Juvenile amyotrophic lateral sclerosis114
HP:0002345HP:0030186Kinetic tremor1AMACR CL E G H23600451OMIM:614307Alpha-methylacyl-CoA racemase deficiency44
HP:0002345HP:0030186Kinetic tremor1ANO10 CL E G H5512925519ORPHA:284289Adult-onset autosomal recessive cerebellar ataxia64
HP:0002345HP:0030186Kinetic tremor1ANO10 CL E G H5512925519OMIM:613728Spinocerebellar ataxia, autosomal recessive 1064
HP:0002345HP:0002174Postural tremor1ANO3 CL E G H6398214004ORPHA:420485Cranio-cervical dystonia with laryngeal and upper-limb involvement17
HP:0002345HP:0012477Vocal tremor1ANO3 CL E G H6398214004ORPHA:420485Cranio-cervical dystonia with laryngeal and upper-limb involvementHP:0040282 - Frequent17
HP:0002345HP:0030186Kinetic tremor1ARSA CL E G H410713ORPHA:309271Metachromatic leukodystrophy, adult form253
HP:0002345HP:0030186Kinetic tremor1ARSA CL E G H410713ORPHA:309263Metachromatic leukodystrophy, juvenile form253
HP:0002345HP:0030186Kinetic tremor1ATCAY CL E G H85300779ORPHA:94122Cerebellar ataxia, Cayman type72
HP:0002345HP:0030186Kinetic tremor1ATCAY CL E G H85300779OMIM:601238Cerebellar ataxia, Cayman type72
HP:0002345HP:0030186Kinetic tremor1ATM CL E G H472795OMIM:208900ATAXIA-TELANGIECTASIA3267
HP:0002345HP:0002174Postural tremor1ATP13A2 CL E G H2340030213ORPHA:314632ATP13A2-related juvenile neuronal ceroid lipofuscinosisHP:0040284 - Very rare100
HP:0002345HP:0030186Kinetic tremor1ATP2B3 CL E G H492816OMIM:302500Spinocerebellar ataxia, X-linked 119
HP:0002345HP:0030186Kinetic tremor1ATP2B3 CL E G H492816ORPHA:314978X-linked non progressive cerebellar ataxia19
HP:0002345HP:0002174Postural tremor1ATP6 CL E G H45087414ORPHA:104Leber hereditary optic neuropathyHP:0040283 - Occasional
HP:0002345HP:0002174Postural tremor1ATP6 CL E G H45087414OMIM:535000Leber optic atrophy.
HP:0002345HP:0002174Postural tremor1ATXN1 CL E G H631010548ORPHA:98755Spinocerebellar ataxia type 1HP:0040283 - Occasional19
HP:0002345HP:0030186Kinetic tremor1ATXN10 CL E G H2581410549ORPHA:98761Spinocerebellar ataxia type 10HP:0040282 - Frequent9
HP:0002345HP:0002174Postural tremor1ATXN2 CL E G H631110555OMIM:183090Spinocerebellar ataxia 2.11
HP:0002345HP:0002174Postural tremor1ATXN2 CL E G H631110555ORPHA:98756Spinocerebellar ataxia type 2HP:0040282 - Frequent11
HP:0002345HP:0030186Kinetic tremor1ATXN2 CL E G H631110555ORPHA:98756Spinocerebellar ataxia type 2HP:0040282 - Frequent11
HP:0002345HP:0030187Titubation1BRAT1 CL E G H22192721701OMIM:618056Neurodevelopmental disorder with cerebellar atrophy and with or without seizures20
HP:0002345HP:0002174Postural tremor1BSCL2 CL E G H2658015832ORPHA:100998Autosomal dominant spastic paraplegia type 17HP:0040283 - Occasional105
HP:0002345HP:0002174Postural tremor1BSCL2 CL E G H2658015832OMIM:270685Spastic paraplegia 17105
HP:0002345HP:0030186Kinetic tremor1CACNA1A CL E G H7731388ORPHA:98758Spinocerebellar ataxia type 6449
HP:0002345HP:0030186Kinetic tremor1CACNA1C CL E G H7751390OMIM:620029572
HP:0002345HP:0002174Postural tremor1CACNA1G CL E G H89131394ORPHA:458803Spinocerebellar ataxia type 4232
HP:0002345HP:0030186Kinetic tremor1CAMTA1 CL E G H2326118806ORPHA:314647Non-progressive cerebellar ataxia with intellectual disability34
HP:0002345HP:0030186Kinetic tremor1CARS1 CL E G H8331493ORPHA:33364Trichothiodystrophy
HP:0002345HP:0002174Postural tremor1CARS2 CL E G H7958725695ORPHA:477774Combined oxidative phosphorylation defect type 2735
HP:0002345HP:0030186Kinetic tremor1CCDC88C CL E G H44019319967OMIM:616053Spinocerebellar ataxia 4054
HP:0002345HP:0030186Kinetic tremor1CCDC88C CL E G H44019319967ORPHA:423275Spinocerebellar ataxia type 4054
HP:0002345HP:0002174Postural tremor1COL6A3 CL E G H12932213OMIM:616411Dystonia 27.702
HP:0002345HP:0002174Postural tremor1COL6A3 CL E G H12932213ORPHA:464440Primary dystonia, DYT27 type702
HP:0002345HP:0002174Postural tremor1COQ2 CL E G H2723525223ORPHA:227510Multiple system atrophy, cerebellar typeHP:0040282 - Frequent54
HP:0002345HP:0002174Postural tremor1COQ2 CL E G H2723525223ORPHA:98933Multiple system atrophy, parkinsonian typeHP:0040283 - Occasional54
HP:0002345HP:0002174Postural tremor1COX1 CL E G H45127419ORPHA:104Leber hereditary optic neuropathyHP:0040283 - Occasional
HP:0002345HP:0002174Postural tremor1COX3 CL E G H45147422ORPHA:104Leber hereditary optic neuropathyHP:0040283 - Occasional
HP:0002345HP:0002174Postural tremor1COX3 CL E G H45147422OMIM:535000Leber optic atrophy.
HP:0002345HP:0030186Kinetic tremor1CSTB CL E G H14762482ORPHA:308Progressive myoclonic epilepsy type 151
HP:0002345HP:0030186Kinetic tremor1CTDP1 CL E G H91502498ORPHA:48431Congenital cataracts-facial dysmorphism-neuropathy syndrome17
HP:0002345HP:0030186Kinetic tremor1CWF19L1 CL E G H5528025613ORPHA:453521Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency9
HP:0002345HP:0030186Kinetic tremor1CWF19L1 CL E G H5528025613OMIM:616127Spinocerebellar ataxia, autosomal recessive 179
HP:0002345HP:0002174Postural tremor1CYP7B1 CL E G H94202652OMIM:270800Spastic paraplegia 5A, autosomal recessive57
HP:0002345HP:0002174Postural tremor1CYTB CL E G H45197427ORPHA:104Leber hereditary optic neuropathyHP:0040283 - Occasional
HP:0002345HP:0002174Postural tremor1CYTB CL E G H45197427OMIM:535000Leber optic atrophy.
HP:0002345HP:0002174Postural tremor1DNAJC30 CL E G H8427716410ORPHA:104Leber hereditary optic neuropathyHP:0040283 - Occasional
HP:0002345HP:0002174Postural tremor1DRD3 CL E G H18143024OMIM:190300Tremor, hereditary essential, 1.21
HP:0002345HP:0030187Titubation1EIF2AK2 CL E G H56109437OMIM:618877LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME; LEUDEN
HP:0002345HP:0030186Kinetic tremor1ELOVL4 CL E G H678514415OMIM:133190Spinocerebellar ataxia 3462
HP:0002345HP:0030186Kinetic tremor1EPRS1 CL E G H20583418OMIM:617951Leukodystrophy, hypomyelinating, 15
HP:0002345HP:0030186Kinetic tremor1ERCC2 CL E G H20683434ORPHA:33364Trichothiodystrophy106
HP:0002345HP:0030186Kinetic tremor1ERCC3 CL E G H20713435ORPHA:33364Trichothiodystrophy54
HP:0002345HP:0030186Kinetic tremor1ERCC6 CL E G H20743438ORPHA:90324Cockayne syndrome type 3199
HP:0002345HP:0030186Kinetic tremor1ERCC8 CL E G H11613439ORPHA:90324Cockayne syndrome type 355
HP:0002345HP:0030186Kinetic tremor1FARS2 CL E G H1066721062ORPHA:466722Autosomal recessive spastic paraplegia type 7736
HP:0002345HP:0030186Kinetic tremor1FBXO7 CL E G H2579313586ORPHA:171695Parkinsonian-pyramidal syndrome36
HP:0002345HP:0002174Postural tremor1FGF14 CL E G H22593671OMIM:193003Nystagmus 4, congenital, autosomal dominant47
HP:0002345HP:0030187Titubation1FLVCR1 CL E G H2898224682ORPHA:88628Posterior column ataxia-retinitis pigmentosa syndrome111
HP:0002345HP:0030186Kinetic tremor1FMR1 CL E G H23323775OMIM:300623Fragile X tremor/ataxia syndrome30
HP:0002345HP:0002174Postural tremor1FMR1 CL E G H23323775OMIM:300623Fragile X tremor/ataxia syndrome.30
HP:0002345HP:0030186Kinetic tremor1FMR1 CL E G H23323775ORPHA:93256Fragile X-associated tremor/ataxia syndrome30
HP:0002345HP:0030187Titubation1FUS CL E G H25214010ORPHA:300605Juvenile amyotrophic lateral sclerosis105
HP:0002345HP:0002174Postural tremor1FUS CL E G H25214010OMIM:614782TREMOR, HEREDITARY ESSENTIAL, 4; ETM4105
HP:0002345HP:0030186Kinetic tremor1FXN CL E G H23953951ORPHA:95Friedreich ataxia18
HP:0002345HP:0002174Postural tremor1GALT CL E G H25924135ORPHA:79239Classic galactosemiaHP:0040282 - Frequent351
HP:0002345HP:0002174Postural tremor1GCH1 CL E G H26434193ORPHA:98808Autosomal dominant dopa-responsive dystoniaHP:0040282 - Frequent86
HP:0002345HP:0002174Postural tremor1GCH1 CL E G H26434193OMIM:128230Dystonia, DOPA-responsive, with or without hyperphenylalaninemia.86
HP:0002345HP:0030186Kinetic tremor1GJB1 CL E G H27054283ORPHA:1175X-linked progressive cerebellar ataxia107
HP:0002345HP:0030187Titubation1GJC2 CL E G H5716517494OMIM:608804Leukodystrophy, hypomyelinating, 237
HP:0002345HP:0030186Kinetic tremor1GJC2 CL E G H5716517494OMIM:608804Leukodystrophy, hypomyelinating, 237
HP:0002345HP:0030186Kinetic tremor1GJC2 CL E G H5716517494OMIM:613206Spastic paraplegia 44, autosomal recessive37
HP:0002345HP:0030186Kinetic tremor1GSS CL E G H29374624OMIM:266130Glutathione synthetase deficiency39
HP:0002345HP:0030186Kinetic tremor1GTF2E2 CL E G H29614651ORPHA:33364Trichothiodystrophy2
HP:0002345HP:0030186Kinetic tremor1GTF2H5 CL E G H40467221157ORPHA:33364Trichothiodystrophy3
HP:0002345HP:0030187Titubation1HIBCH CL E G H262754908ORPHA:88639Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency32
HP:0002345HP:0030186Kinetic tremor1HSD17B4 CL E G H32955213OMIM:233400Perrault syndrome 198
HP:0002345HP:0030187Titubation1HYCC1 CL E G H8466824587OMIM:610532Leukodystrophy, hypomyelinating, 5
HP:0002345HP:0030186Kinetic tremor1HYCC1 CL E G H8466824587OMIM:610532Leukodystrophy, hypomyelinating, 5
HP:0002345HP:0030187Titubation1IFRD1 CL E G H34755456ORPHA:98771Spinocerebellar ataxia type 18HP:0040283 - Occasional1
HP:0002345HP:0002174Postural tremor1IMPDH2 CL E G H36156053ORPHA:98808Autosomal dominant dopa-responsive dystoniaHP:0040282 - Frequent1
HP:0002345HP:0030186Kinetic tremor1ITM2B CL E G H94456174OMIM:117300Dementia, familial danish3
HP:0002345HP:0002174Postural tremor1ITPR1 CL E G H37086180OMIM:206700Gillespie syndrome.177
HP:0002345HP:0002174Postural tremor1ITPR1 CL E G H37086180OMIM:606658Spinocerebellar ataxia 15.177
HP:0002345HP:0030186Kinetic tremor1ITPR1 CL E G H37086180OMIM:117360Spinocerebellar ataxia 29177
HP:0002345HP:0030187Titubation1ITPR1 CL E G H37086180OMIM:117360Spinocerebellar ataxia 29177
HP:0002345HP:0002174Postural tremor1ITPR1 CL E G H37086180ORPHA:98769Spinocerebellar ataxia type 15/16177
HP:0002345HP:0030186Kinetic tremor1ITPR1 CL E G H37086180ORPHA:208513Spinocerebellar ataxia type 29177
HP:0002345HP:0030187Titubation1KCNC3 CL E G H37486235ORPHA:98768Spinocerebellar ataxia type 13HP:0040282 - Frequent17
HP:0002345HP:0002174Postural tremor1KCND3 CL E G H37526239OMIM:607346Spinocerebellar ataxia 19.35
HP:0002345HP:0030186Kinetic tremor1KCNJ10 CL E G H37666256OMIM:612780Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance121
HP:0002345HP:0030186Kinetic tremor1KCNK4 CL E G H508016279OMIM:618381Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome
HP:0002345HP:0030186Kinetic tremor1KCNN2 CL E G H37816291OMIM:619725NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE MOVEMENT OR BEHAVIORAL ABNORMALITIES; NEDMAB
HP:0002345HP:0030186Kinetic tremor1KIF1C CL E G H107496317ORPHA:397946Autosomal spastic paraplegia type 5838
HP:0002345HP:0030187Titubation1KIF1C CL E G H107496317ORPHA:397946Autosomal spastic paraplegia type 58HP:0040282 - Frequent38
HP:0002345HP:0030187Titubation1KIF1C CL E G H107496317OMIM:611302Spastic ataxia 2, autosomal recessive38
HP:0002345HP:0030186Kinetic tremor1KNSTRN CL E G H9041730767ORPHA:221139Combined immunodeficiency with faciooculoskeletal anomalies1
HP:0002345HP:0030187Titubation1LAMA1 CL E G H2842176481ORPHA:370022Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome35
HP:0002345HP:0030186Kinetic tremor1LEMD2 CL E G H22149621244OMIM:619322MARBACH-RUSTAD PROGEROID SYNDROME; MARUPS1
HP:0002345HP:0030186Kinetic tremor1LMAN2L CL E G H8156219263OMIM:6178631
HP:0002345HP:0002174Postural tremor1LMNB1 CL E G H40016637ORPHA:99027Adult-onset autosomal dominant leukodystrophy44
HP:0002345HP:0030187Titubation1LMNB1 CL E G H40016637ORPHA:99027Adult-onset autosomal dominant leukodystrophy44
HP:0002345HP:0030186Kinetic tremor1LMNB1 CL E G H40016637ORPHA:99027Adult-onset autosomal dominant leukodystrophy44
HP:0002345HP:0030187Titubation1MAG CL E G H40996783ORPHA:459056Autosomal recessive spastic paraplegia type 75HP:0040283 - Occasional4
HP:0002345HP:0030186Kinetic tremor1MAOA CL E G H41286833OMIM:300615Brunner syndrome.22
HP:0002345HP:0002174Postural tremor1MFN2 CL E G H992716877ORPHA:99947Autosomal dominant Charcot-Marie-Tooth disease type 2A2HP:0040283 - Occasional203
HP:0002345HP:0030186Kinetic tremor1MPLKIP CL E G H13664716002ORPHA:33364Trichothiodystrophy9
HP:0002345HP:0002174Postural tremor1MPZ CL E G H43597225ORPHA:3115Roussy-Lévy syndromeHP:0040282 - Frequent134
HP:0002345HP:0002174Postural tremor1MPZ CL E G H43597225OMIM:180800Roussy-Levy hereditary areflexic dystasia134
HP:0002345HP:0030186Kinetic tremor1MRE11 CL E G H43617230ORPHA:251347Ataxia-telangiectasia-like disorder532
HP:0002345HP:0002174Postural tremor1MYBPC1 CL E G H46047549OMIM:618524MYOPATHY, CONGENITAL, WITH TREMOR; MYOTREM66
HP:0002345HP:0002174Postural tremor1ND1 CL E G H45357455ORPHA:104Leber hereditary optic neuropathyHP:0040283 - Occasional
HP:0002345HP:0002174Postural tremor1ND1 CL E G H45357455OMIM:535000Leber optic atrophy.
HP:0002345HP:0002174Postural tremor1ND2 CL E G H45367456ORPHA:104Leber hereditary optic neuropathyHP:0040283 - Occasional
HP:0002345HP:0002174Postural tremor1ND2 CL E G H45367456OMIM:535000Leber optic atrophy.
HP:0002345HP:0002174Postural tremor1ND4 CL E G H45387459ORPHA:104Leber hereditary optic neuropathyHP:0040283 - Occasional
HP:0002345HP:0002174Postural tremor1ND4 CL E G H45387459OMIM:535000Leber optic atrophy.
HP:0002345HP:0002174Postural tremor1ND4L CL E G H45397460ORPHA:104Leber hereditary optic neuropathyHP:0040283 - Occasional
HP:0002345HP:0002174Postural tremor1ND4L CL E G H45397460OMIM:535000Leber optic atrophy.
HP:0002345HP:0002174Postural tremor1ND5 CL E G H45407461ORPHA:104Leber hereditary optic neuropathyHP:0040283 - Occasional
HP:0002345HP:0002174Postural tremor1ND5 CL E G H45407461OMIM:535000Leber optic atrophy.
HP:0002345HP:0002174Postural tremor1ND6 CL E G H45417462ORPHA:104Leber hereditary optic neuropathyHP:0040283 - Occasional
HP:0002345HP:0002174Postural tremor1ND6 CL E G H45417462OMIM:535000Leber optic atrophy.
HP:0002345HP:0002174Postural tremor1NDRG1 CL E G H103977679ORPHA:99950Charcot-Marie-Tooth disease type 4DHP:0040283 - Occasional82
HP:0002345HP:0002174Postural tremor1NDUFS2 CL E G H47207708ORPHA:104Leber hereditary optic neuropathyHP:0040283 - Occasional65
HP:0002345HP:0030186Kinetic tremor1NFASC CL E G H2311429866OMIM:618356Neurodevelopmental disorder with central and peripheral motor dysfunction
HP:0002345HP:0002174Postural tremor1NIPA1 CL E G H12360617043ORPHA:100988Autosomal dominant spastic paraplegia type 6HP:0040283 - Occasional117
HP:0002345HP:0030186Kinetic tremor1NKX2-1 CL E G H708011825ORPHA:209905Brain-lung-thyroid syndrome51
HP:0002345HP:0030187Titubation1NKX6-2 CL E G H8450419321ORPHA:527497NKX6-2-related autosomal recessive hypomyelinating leukodystrophy2
HP:0002345HP:0030187Titubation1NKX6-2 CL E G H8450419321OMIM:617560Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy2
HP:0002345HP:0030186Kinetic tremor1NONO CL E G H48417871ORPHA:466791Macrocephaly-intellectual disability-left ventricular non compaction syndrome10
HP:0002345HP:0030186Kinetic tremor1NOP56 CL E G H1052815911ORPHA:276198Spinocerebellar ataxia type 369
HP:0002345HP:0012477Vocal tremor1NOTCH2NLC CL E G H10099671753924OMIM:618866TREMOR, HEREDITARY ESSENTIAL, 6; ETM6
HP:0002345HP:0002174Postural tremor1NOTCH2NLC CL E G H10099671753924OMIM:618866TREMOR, HEREDITARY ESSENTIAL, 6; ETM6
HP:0002345HP:0030186Kinetic tremor1NOTCH2NLC CL E G H10099671753924OMIM:618866TREMOR, HEREDITARY ESSENTIAL, 6; ETM6
HP:0002345HP:0002174Postural tremor1NR4A2 CL E G H49297981OMIM:61991127
HP:0002345HP:0002174Postural tremor1NR4A2 CL E G H49297981ORPHA:98808Autosomal dominant dopa-responsive dystoniaHP:0040282 - Frequent27
HP:0002345HP:0002174Postural tremor1OPA3 CL E G H802078142ORPHA:67036Autosomal dominant optic atrophy and cataractHP:0040282 - Frequent163
HP:0002345HP:0030186Kinetic tremor1OPHN1 CL E G H49838148ORPHA:137831X-linked intellectual disability-cerebellar hypoplasia syndrome55
HP:0002345HP:0002174Postural tremor1PARK7 CL E G H1131516369OMIM:606324PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET; PARK723
HP:0002345HP:0030186Kinetic tremor1PEX10 CL E G H51928851OMIM:614871Peroxisome biogenesis disorder 6B75
HP:0002345HP:0030187Titubation1PI4KA CL E G H52978983OMIM:619708GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 2; GIDID211
HP:0002345HP:0030186Kinetic tremor1PI4KA CL E G H52978983OMIM:619708GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 2; GIDID211
HP:0002345HP:0002174Postural tremor1PIGA CL E G H52778957OMIM:301072NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS; NEDEPH46
HP:0002345HP:0030186Kinetic tremor1PIK3CA CL E G H52908975OMIM:615108Cowden syndrome 5162
HP:0002345HP:0030186Kinetic tremor1PIK3CD CL E G H52938977ORPHA:221139Combined immunodeficiency with faciooculoskeletal anomalies9
HP:0002345HP:0002174Postural tremor1PIK3R5 CL E G H2353330035ORPHA:64753Spinocerebellar ataxia with axonal neuropathy type 2HP:0040283 - Occasional11
HP:0002345HP:0030187Titubation1PITRM1 CL E G H1053117663OMIM:619405SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 30; SCAR301
HP:0002345HP:0030186Kinetic tremor1PLA2G6 CL E G H83989039OMIM:610217Neurodegeneration with brain iron accumulation 2B133
HP:0002345HP:0002174Postural tremor1PLA2G6 CL E G H83989039OMIM:612953Parkinson disease 14, autosomal recessive133
HP:0002345HP:0030186Kinetic tremor1PLP1 CL E G H53549086OMIM:312080Pelizaeus-Merzbacher disease60
HP:0002345HP:0030187Titubation1PLP1 CL E G H53549086OMIM:312080Pelizaeus-Merzbacher disease60
HP:0002345HP:0030187Titubation1PLP1 CL E G H53549086ORPHA:280219Pelizaeus-Merzbacher disease, classic formHP:0040282 - Frequent60
HP:0002345HP:0030187Titubation1PLP1 CL E G H53549086ORPHA:280210Pelizaeus-Merzbacher disease, connatal formHP:0040282 - Frequent60
HP:0002345HP:0030186Kinetic tremor1PMM2 CL E G H53739115OMIM:212065Congenital disorder of glycosylation, type Ia150
HP:0002345HP:0002174Postural tremor1PMP22 CL E G H53769118ORPHA:3115Roussy-Lévy syndromeHP:0040282 - Frequent79
HP:0002345HP:0002174Postural tremor1PMP22 CL E G H53769118OMIM:180800Roussy-Levy hereditary areflexic dystasia79
HP:0002345HP:0030186Kinetic tremor1PNPLA6 CL E G H1090816268OMIM:215470Boucher-Neuhauser syndrome103
HP:0002345HP:0030186Kinetic tremor1POLG CL E G H54289179OMIM:258450Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive464
HP:0002345HP:0002174Postural tremor1POLR3A CL E G H1112830074OMIM:607694Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism.138
HP:0002345HP:0002174Postural tremor1POLR3A CL E G H1112830074ORPHA:447896Tremor-ataxia-central hypomyelination syndromeHP:0040282 - Frequent138
HP:0002345HP:0030186Kinetic tremor1POLR3A CL E G H1112830074ORPHA:447896Tremor-ataxia-central hypomyelination syndrome138
HP:0002345HP:0030186Kinetic tremor1POLR3A CL E G H1112830074OMIM:264090Wiedemann-Rautenstrauch syndrome138
HP:0002345HP:0002174Postural tremor1POLR3B CL E G H5570330348OMIM:607694Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism.67
HP:0002345HP:0030186Kinetic tremor1POLR3B CL E G H5570330348OMIM:614381Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism67
HP:0002345HP:0030186Kinetic tremor1POU4F1 CL E G H54579218OMIM:619352ATAXIA, INTENTION TREMOR, AND HYPOTONIA SYNDROME, CHILDHOOD-ONSET; ATITHS
HP:0002345HP:0030186Kinetic tremor1POU4F1 CL E G H54579218ORPHA:314647Non-progressive cerebellar ataxia with intellectual disability
HP:0002345HP:0030186Kinetic tremor1PPP1R15B CL E G H8491914951OMIM:616817Microcephaly, short stature, and impaired glucose metabolism 22
HP:0002345HP:0002174Postural tremor1PPP2R2B CL E G H55219305ORPHA:98762Spinocerebellar ataxia type 12HP:0040283 - Occasional5
HP:0002345HP:0030186Kinetic tremor1PPP2R2B CL E G H55219305ORPHA:98762Spinocerebellar ataxia type 125
HP:0002345HP:0002174Postural tremor1PRDX3 CL E G H109359354OMIM:619862
HP:0002345HP:0030186Kinetic tremor1PRICKLE1 CL E G H14416517019ORPHA:308Progressive myoclonic epilepsy type 1133
HP:0002345HP:0002174Postural tremor1PRKRA CL E G H85759438OMIM:612067Dystonia 16.37
HP:0002345HP:0002174Postural tremor1PRKRA CL E G H85759438ORPHA:210571Dystonia 16HP:0040282 - Frequent37
HP:0002345HP:0030186Kinetic tremor1PSAP CL E G H56609498OMIM:610539Gaucher disease, atypical81
HP:0002345HP:0030186Kinetic tremor1PSAP CL E G H56609498ORPHA:309271Metachromatic leukodystrophy, adult form81
HP:0002345HP:0030186Kinetic tremor1PSAP CL E G H56609498ORPHA:309263Metachromatic leukodystrophy, juvenile form81
HP:0002345HP:0030186Kinetic tremor1PTEN CL E G H57289588OMIM:158350Cowden syndrome 1948
HP:0002345HP:0030186Kinetic tremor1QRICH1 CL E G H5487024713OMIM:617982VERVERI-BRADY SYNDROME; VERBRAS
HP:0002345HP:0030186Kinetic tremor1RARS1 CL E G H59179870OMIM:616140Leukodystrophy, hypomyelinating, 9
HP:0002345HP:0030186Kinetic tremor1RARS1 CL E G H59179870ORPHA:438114RARS-related autosomal recessive hypomyelinating leukodystrophy
HP:0002345HP:0002174Postural tremor1REEP2 CL E G H5130817975ORPHA:401849Autosomal spastic paraplegia type 72HP:0040283 - Occasional3
HP:0002345HP:0030186Kinetic tremor1RFC1 CL E G H59819969ORPHA:504476Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome
HP:0002345HP:0002174Postural tremor1RILPL1 CL E G H35311626814OMIM:619790OCULOPHARYNGODISTAL MYOPATHY 4; OPDM4
HP:0002345HP:0030186Kinetic tremor1RNF113A CL E G H773712974ORPHA:33364Trichothiodystrophy3
HP:0002345HP:0030186Kinetic tremor1RNU12 CL E G H26701019380ORPHA:512260Congenital cerebellar ataxia due to RNU12 mutation
HP:0002345HP:0030186Kinetic tremor1SACS CL E G H2627810519ORPHA:98Autosomal recessive spastic ataxia of Charlevoix-Saguenay309
HP:0002345HP:0002174Postural tremor1SCARB2 CL E G H9501665OMIM:254900Epilepsy, progressive myoclonic, 4, with or without renal failure.77
HP:0002345HP:0030186Kinetic tremor1SCARB2 CL E G H9501665OMIM:254900Epilepsy, progressive myoclonic, 4, with or without renal failure77
HP:0002345HP:0030186Kinetic tremor1SCARB2 CL E G H9501665ORPHA:308Progressive myoclonic epilepsy type 177
HP:0002345HP:0030186Kinetic tremor1SCP2 CL E G H634210606OMIM:613724Leukoencephalopathy with dystonia and motor neuropathy4
HP:0002345HP:0030186Kinetic tremor1SCYL1 CL E G H5741014372ORPHA:466794Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome5
HP:0002345HP:0030186Kinetic tremor1SEMA6B CL E G H1050110739OMIM:618876EPILEPSY, PROGRESSIVE MYOCLONIC, 11; EPM11
HP:0002345HP:0002174Postural tremor1SETX CL E G H23064445ORPHA:64753Spinocerebellar ataxia with axonal neuropathy type 2HP:0040283 - Occasional162
HP:0002345HP:0030187Titubation1SIGMAR1 CL E G H102808157ORPHA:300605Juvenile amyotrophic lateral sclerosis6
HP:0002345HP:0030187Titubation1SLC19A3 CL E G H8070416266OMIM:607483Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2)110
HP:0002345HP:0030186Kinetic tremor1SLC25A46 CL E G H9113725198OMIM:616505Neuropathy, hereditary motor and sensory, type VIB14
HP:0002345HP:0030186Kinetic tremor1SLC6A17 CL E G H38866231399OMIM:616269Mental retardation, autosomal recessive 48.12
HP:0002345HP:0030186Kinetic tremor1SMG9 CL E G H5600625763OMIM:6199952
HP:0002345HP:0030186Kinetic tremor1SNCA CL E G H662211138ORPHA:171695Parkinsonian-pyramidal syndrome65
HP:0002345HP:0030187Titubation1SPG11 CL E G H8020811226ORPHA:300605Juvenile amyotrophic lateral sclerosis287
HP:0002345HP:0030185Isometric tremor1SPTBN1 CL E G H671111275OMIM:619475DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0002345HP:0030186Kinetic tremor1SPTBN1 CL E G H671111275OMIM:619475DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0002345HP:0030187Titubation1SPTBN1 CL E G H671111275OMIM:619475DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0002345HP:0030186Kinetic tremor1SPTBN2 CL E G H671211276ORPHA:352403Spectrin-associated autosomal recessive cerebellar ataxia126
HP:0002345HP:0030186Kinetic tremor1SPTBN2 CL E G H671211276OMIM:600224Spinocerebellar ataxia 5126
HP:0002345HP:0030186Kinetic tremor1SPTBN2 CL E G H671211276OMIM:615386Spinocerebellar ataxia, autosomal recessive 14126
HP:0002345HP:0030187Titubation1SPTLC1 CL E G H1055811277ORPHA:300605Juvenile amyotrophic lateral sclerosis54
HP:0002345HP:0002174Postural tremor1STUB1 CL E G H1027311427ORPHA:412057Autosomal recessive cerebellar ataxia due to STUB1 deficiencyHP:0040283 - Occasional14
HP:0002345HP:0030186Kinetic tremor1TARS1 CL E G H689711572ORPHA:33364Trichothiodystrophy
HP:0002345HP:0030186Kinetic tremor1TBP CL E G H690811588OMIM:607136Spinocerebellar ataxia 177
HP:0002345HP:0030186Kinetic tremor1TECR CL E G H95244551OMIM:614020Mental retardation, autosomal recessive 1417
HP:0002345HP:0002174Postural tremor1TENM4 CL E G H2601129945OMIM:616736Tremor, hereditary essential, 55
HP:0002345HP:0030186Kinetic tremor1TENM4 CL E G H2601129945OMIM:616736Tremor, hereditary essential, 55
HP:0002345HP:0030186Kinetic tremor1TGM6 CL E G H34364116255OMIM:613908Spinocerebellar ataxia 3558
HP:0002345HP:0030186Kinetic tremor1TGM6 CL E G H34364116255ORPHA:276193Spinocerebellar ataxia type 3558
HP:0002345HP:0002174Postural tremor1TH CL E G H705411782ORPHA:101150Autosomal recessive dopa-responsive dystoniaHP:0040282 - Frequent80
HP:0002345HP:0030187Titubation1THG1L CL E G H5497426053OMIM:618800SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 28; SCAR28
HP:0002345HP:0030186Kinetic tremor1TMCO1 CL E G H5449918188OMIM:213980Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome6
HP:0002345HP:0030186Kinetic tremor1TMEM106B CL E G H5466422407OMIM:617964Leukodystrophy, hypomyelinating, 16
HP:0002345HP:0002174Postural tremor1TMEM240 CL E G H33945325186OMIM:607454Spinocerebellar ataxia 219
HP:0002345HP:0030186Kinetic tremor1TMEM240 CL E G H33945325186OMIM:607454Spinocerebellar ataxia 219
HP:0002345HP:0030187Titubation1TMEM63A CL E G H972529118OMIM:618688LEUKODYSTROPHY, HYPOMYELINATING, 19, TRANSIENT INFANTILE; HLD19
HP:0002345HP:0030186Kinetic tremor1TMEM63A CL E G H972529118OMIM:618688LEUKODYSTROPHY, HYPOMYELINATING, 19, TRANSIENT INFANTILE; HLD19
HP:0002345HP:0030186Kinetic tremor1TMEM70 CL E G H5496826050OMIM:614052Mitochondrial complex V (atp synthase) deficiency, nuclear type 263
HP:0002345HP:0030186Kinetic tremor1TPK1 CL E G H2701017358OMIM:614458Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type)21
HP:0002345HP:0002174Postural tremor1TPP1 CL E G H12002073ORPHA:284324Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxiaHP:0040283 - Occasional203
HP:0002345HP:0002174Postural tremor1TPP1 CL E G H12002073OMIM:609270Spinocerebellar ataxia, autosomal recessive 7.203
HP:0002345HP:0002174Postural tremor1TSPOAP1 CL E G H925616831ORPHA:101150Autosomal recessive dopa-responsive dystoniaHP:0040282 - Frequent2
HP:0002345HP:0002174Postural tremor1TUBB4A CL E G H1038220774ORPHA:98805Primary dystonia, DYT4 type66
HP:0002345HP:0030187Titubation1UCHL1 CL E G H734512513OMIM:615491Spastic paraplegia 79, autosomal recessive21
HP:0002345HP:0030186Kinetic tremor1UCHL1 CL E G H734512513OMIM:615491Spastic paraplegia 79, autosomal recessive21
HP:0002345HP:0002174Postural tremor1UCHL1 CL E G H734512513OMIM:615491Spastic paraplegia 79, autosomal recessive21
HP:0002345HP:0030186Kinetic tremor1UFC1 CL E G H5150626941OMIM:618076Neurodevelopmental disorder with spasticity and poor growth
HP:0002345HP:0002174Postural tremor1VAPB CL E G H921712649OMIM:608627Amyotrophic lateral sclerosis 8116
HP:0002345HP:0030186Kinetic tremor1VLDLR CL E G H743612698OMIM:224050Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1111
HP:0002345HP:0030187Titubation1VPS13A CL E G H232301908ORPHA:2388Choreoacanthocytosis130
HP:0002345HP:0030186Kinetic tremor1VWA3B CL E G H20040328385OMIM:616948Spinocerebellar ataxia, autosomal recessive 221
HP:0002345HP:0030186Kinetic tremor1XPNPEP3 CL E G H6392928052OMIM:613159Nephronophthisis-Like nephropathy 1.109
HP:0002345HP:0002599Head titubation2AARS1 CL E G H1620OMIM:619691TRICHOTHIODYSTROPHY 8, NONPHOTOSENSITIVE; TTD8
HP:0002345HP:0002080Intention tremor2ABCB7 CL E G H2248OMIM:301310Anemia, sideroblastic, and spinocerebellar ataxia.35
HP:0002345HP:0002080Intention tremor2ABHD12 CL E G H2609015868OMIM:612674Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract.50
HP:0002345HP:0030147Truncal titubation2ACBD5 CL E G H9145223338OMIM:618863RETINAL DYSTROPHY WITH LEUKODYSTROPHY; RDLKD1
HP:0002345HP:0002080Intention tremor2ADPRS CL E G H5493621304OMIM:618170Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures
HP:0002345HP:0002080Intention tremor2AKT1 CL E G H207391OMIM:615109Cowden syndrome 6.54
HP:0002345HP:0002599Head titubation2ALS2 CL E G H57679443OMIM:205100Amyotrophic lateral sclerosis 2, juvenile114
HP:0002345HP:0002599Head titubation2ALS2 CL E G H57679443ORPHA:300605Juvenile amyotrophic lateral sclerosisHP:0040283 - Occasional114
HP:0002345HP:0002080Intention tremor2AMACR CL E G H23600451OMIM:614307Alpha-methylacyl-CoA racemase deficiency44
HP:0002345HP:0002080Intention tremor2ANO10 CL E G H5512925519ORPHA:284289Adult-onset autosomal recessive cerebellar ataxiaHP:0040283 - Occasional64
HP:0002345HP:0002080Intention tremor2ANO10 CL E G H5512925519OMIM:613728Spinocerebellar ataxia, autosomal recessive 10HP:0040283 - Occasional64
HP:0002345HP:0007351Upper limb postural tremor2ANO3 CL E G H6398214004ORPHA:420485Cranio-cervical dystonia with laryngeal and upper-limb involvementHP:0040283 - Occasional17
HP:0002345HP:0002080Intention tremor2ARSA CL E G H410713ORPHA:309271Metachromatic leukodystrophy, adult formHP:0040283 - Occasional253
HP:0002345HP:0002080Intention tremor2ARSA CL E G H410713ORPHA:309263Metachromatic leukodystrophy, juvenile formHP:0040283 - Occasional253
HP:0002345HP:0002080Intention tremor2ATCAY CL E G H85300779ORPHA:94122Cerebellar ataxia, Cayman typeHP:0040282 - Frequent72
HP:0002345HP:0002080Intention tremor2ATCAY CL E G H85300779OMIM:601238Cerebellar ataxia, Cayman type.72
HP:0002345HP:0002080Intention tremor2ATM CL E G H472795OMIM:208900ATAXIA-TELANGIECTASIA3267
HP:0002345HP:0002080Intention tremor2ATP2B3 CL E G H492816OMIM:302500Spinocerebellar ataxia, X-linked 1.19
HP:0002345HP:0002080Intention tremor2ATP2B3 CL E G H492816ORPHA:314978X-linked non progressive cerebellar ataxiaHP:0040282 - Frequent19
HP:0002345HP:0002080Intention tremor2ATXN10 CL E G H2581410549ORPHA:98761Spinocerebellar ataxia type 10HP:0040282 - Frequent9
HP:0002345HP:0030147Truncal titubation2BRAT1 CL E G H22192721701OMIM:618056Neurodevelopmental disorder with cerebellar atrophy and with or without seizures.20
HP:0002345HP:0002080Intention tremor2CACNA1A CL E G H7731388ORPHA:98758Spinocerebellar ataxia type 6HP:0040281 - Very frequent449
HP:0002345HP:0002080Intention tremor2CACNA1C CL E G H7751390OMIM:620029572
HP:0002345HP:0007351Upper limb postural tremor2CACNA1G CL E G H89131394ORPHA:458803Spinocerebellar ataxia type 42HP:0040283 - Occasional32
HP:0002345HP:0002080Intention tremor2CAMTA1 CL E G H2326118806ORPHA:314647Non-progressive cerebellar ataxia with intellectual disabilityHP:0040284 - Very rare34
HP:0002345HP:0002080Intention tremor2CARS1 CL E G H8331493ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional
HP:0002345HP:0007351Upper limb postural tremor2CARS2 CL E G H7958725695ORPHA:477774Combined oxidative phosphorylation defect type 27HP:0040283 - Occasional35
HP:0002345HP:0002080Intention tremor2CCDC88C CL E G H44019319967OMIM:616053Spinocerebellar ataxia 40.54
HP:0002345HP:0002080Intention tremor2CCDC88C CL E G H44019319967ORPHA:423275Spinocerebellar ataxia type 40HP:0040282 - Frequent54
HP:0002345HP:0007351Upper limb postural tremor2COL6A3 CL E G H12932213ORPHA:464440Primary dystonia, DYT27 typeHP:0040282 - Frequent702
HP:0002345HP:0002080Intention tremor2CSTB CL E G H14762482ORPHA:308Progressive myoclonic epilepsy type 1HP:0040282 - Frequent51
HP:0002345HP:0002080Intention tremor2CTDP1 CL E G H91502498ORPHA:48431Congenital cataracts-facial dysmorphism-neuropathy syndromeHP:0040281 - Very frequent17
HP:0002345HP:0002080Intention tremor2CWF19L1 CL E G H5528025613ORPHA:453521Autosomal recessive cerebellar ataxia due to CWF19L1 deficiencyHP:0040282 - Frequent9
HP:0002345HP:0002080Intention tremor2CWF19L1 CL E G H5528025613OMIM:616127Spinocerebellar ataxia, autosomal recessive 179
HP:0002345HP:0002599Head titubation2EIF2AK2 CL E G H56109437OMIM:618877LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME; LEUDEN
HP:0002345HP:0002080Intention tremor2ELOVL4 CL E G H678514415OMIM:133190Spinocerebellar ataxia 34HP:0040283 - Occasional62
HP:0002345HP:0002080Intention tremor2EPRS1 CL E G H20583418OMIM:617951Leukodystrophy, hypomyelinating, 15.
HP:0002345HP:0002080Intention tremor2ERCC2 CL E G H20683434ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional106
HP:0002345HP:0002080Intention tremor2ERCC3 CL E G H20713435ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional54
HP:0002345HP:0002080Intention tremor2ERCC6 CL E G H20743438ORPHA:90324Cockayne syndrome type 3HP:0040282 - Frequent199
HP:0002345HP:0002080Intention tremor2ERCC8 CL E G H11613439ORPHA:90324Cockayne syndrome type 3HP:0040282 - Frequent55
HP:0002345HP:0002080Intention tremor2FARS2 CL E G H1066721062ORPHA:466722Autosomal recessive spastic paraplegia type 77HP:0040282 - Frequent36
HP:0002345HP:0002080Intention tremor2FBXO7 CL E G H2579313586ORPHA:171695Parkinsonian-pyramidal syndromeHP:0040282 - Frequent36
HP:0002345HP:0030147Truncal titubation2FLVCR1 CL E G H2898224682ORPHA:88628Posterior column ataxia-retinitis pigmentosa syndromeHP:0040283 - Occasional111
HP:0002345HP:0002080Intention tremor2FMR1 CL E G H23323775OMIM:300623Fragile X tremor/ataxia syndrome30
HP:0002345HP:0002080Intention tremor2FMR1 CL E G H23323775ORPHA:93256Fragile X-associated tremor/ataxia syndromeHP:0040281 - Very frequent30
HP:0002345HP:0002599Head titubation2FUS CL E G H25214010ORPHA:300605Juvenile amyotrophic lateral sclerosisHP:0040283 - Occasional105
HP:0002345HP:0002080Intention tremor2FXN CL E G H23953951ORPHA:95Friedreich ataxiaHP:0040282 - Frequent18
HP:0002345HP:0002080Intention tremor2GJB1 CL E G H27054283ORPHA:1175X-linked progressive cerebellar ataxiaHP:0040282 - Frequent107
HP:0002345HP:0002080Intention tremor2GJC2 CL E G H5716517494OMIM:608804Leukodystrophy, hypomyelinating, 2.37
HP:0002345HP:0002599Head titubation2GJC2 CL E G H5716517494OMIM:608804Leukodystrophy, hypomyelinating, 2.37
HP:0002345HP:0002080Intention tremor2GJC2 CL E G H5716517494OMIM:613206Spastic paraplegia 44, autosomal recessive.37
HP:0002345HP:0002080Intention tremor2GSS CL E G H29374624OMIM:266130Glutathione synthetase deficiency.39
HP:0002345HP:0002080Intention tremor2GTF2E2 CL E G H29614651ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional2
HP:0002345HP:0002080Intention tremor2GTF2H5 CL E G H40467221157ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional3
HP:0002345HP:0002599Head titubation2HIBCH CL E G H262754908ORPHA:88639Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiencyHP:0040284 - Very rare32
HP:0002345HP:0002080Intention tremor2HSD17B4 CL E G H32955213OMIM:233400Perrault syndrome 198
HP:0002345HP:0002080Intention tremor2HYCC1 CL E G H8466824587OMIM:610532Leukodystrophy, hypomyelinating, 5.
HP:0002345HP:0030147Truncal titubation2HYCC1 CL E G H8466824587OMIM:610532Leukodystrophy, hypomyelinating, 5.
HP:0002345HP:0002080Intention tremor2ITM2B CL E G H94456174OMIM:117300Dementia, familial danish.3
HP:0002345HP:0002080Intention tremor2ITPR1 CL E G H37086180OMIM:117360Spinocerebellar ataxia 29.177
HP:0002345HP:0030147Truncal titubation2ITPR1 CL E G H37086180OMIM:117360Spinocerebellar ataxia 29177
HP:0002345HP:0007351Upper limb postural tremor2ITPR1 CL E G H37086180ORPHA:98769Spinocerebellar ataxia type 15/16HP:0040282 - Frequent177
HP:0002345HP:0002080Intention tremor2ITPR1 CL E G H37086180ORPHA:208513Spinocerebellar ataxia type 29HP:0040281 - Very frequent177
HP:0002345HP:0002080Intention tremor2KCNJ10 CL E G H37666256OMIM:612780Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance.121
HP:0002345HP:0002080Intention tremor2KCNK4 CL E G H508016279OMIM:618381Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome
HP:0002345HP:0002080Intention tremor2KCNN2 CL E G H37816291OMIM:619725NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE MOVEMENT OR BEHAVIORAL ABNORMALITIES; NEDMAB
HP:0002345HP:0002080Intention tremor2KIF1C CL E G H107496317ORPHA:397946Autosomal spastic paraplegia type 58HP:0040283 - Occasional38
HP:0002345HP:0002599Head titubation2KIF1C CL E G H107496317OMIM:611302Spastic ataxia 2, autosomal recessive.38
HP:0002345HP:0002080Intention tremor2KNSTRN CL E G H9041730767ORPHA:221139Combined immunodeficiency with faciooculoskeletal anomaliesHP:0040282 - Frequent1
HP:0002345HP:0002599Head titubation2LAMA1 CL E G H2842176481ORPHA:370022Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndromeHP:0040283 - Occasional35
HP:0002345HP:0002080Intention tremor2LEMD2 CL E G H22149621244OMIM:619322MARBACH-RUSTAD PROGEROID SYNDROME; MARUPS1
HP:0002345HP:0002080Intention tremor2LMAN2L CL E G H8156219263OMIM:6178631
HP:0002345HP:0002080Intention tremor2LMNB1 CL E G H40016637ORPHA:99027Adult-onset autosomal dominant leukodystrophyHP:0040283 - Occasional44
HP:0002345HP:0007351Upper limb postural tremor2LMNB1 CL E G H40016637ORPHA:99027Adult-onset autosomal dominant leukodystrophyHP:0040283 - Occasional44
HP:0002345HP:0002599Head titubation2LMNB1 CL E G H40016637ORPHA:99027Adult-onset autosomal dominant leukodystrophyHP:0040283 - Occasional44
HP:0002345HP:0002080Intention tremor2MPLKIP CL E G H13664716002ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional9
HP:0002345HP:0007351Upper limb postural tremor2MPZ CL E G H43597225OMIM:180800Roussy-Levy hereditary areflexic dystasia.134
HP:0002345HP:0002080Intention tremor2MRE11 CL E G H43617230ORPHA:251347Ataxia-telangiectasia-like disorderHP:0040282 - Frequent532
HP:0002345HP:0002080Intention tremor2NFASC CL E G H2311429866OMIM:618356Neurodevelopmental disorder with central and peripheral motor dysfunction.
HP:0002345HP:0002080Intention tremor2NKX2-1 CL E G H708011825ORPHA:209905Brain-lung-thyroid syndromeHP:0040283 - Occasional51
HP:0002345HP:0002599Head titubation2NKX6-2 CL E G H8450419321ORPHA:527497NKX6-2-related autosomal recessive hypomyelinating leukodystrophyHP:0040282 - Frequent2
HP:0002345HP:0002599Head titubation2NKX6-2 CL E G H8450419321OMIM:617560Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy.2
HP:0002345HP:0002080Intention tremor2NONO CL E G H48417871ORPHA:466791Macrocephaly-intellectual disability-left ventricular non compaction syndromeHP:0040283 - Occasional10
HP:0002345HP:0002080Intention tremor2NOP56 CL E G H1052815911ORPHA:276198Spinocerebellar ataxia type 36HP:0040284 - Very rare9
HP:0002345HP:0002080Intention tremor2OPHN1 CL E G H49838148ORPHA:137831X-linked intellectual disability-cerebellar hypoplasia syndromeHP:0040283 - Occasional55
HP:0002345HP:0002080Intention tremor2PEX10 CL E G H51928851OMIM:614871Peroxisome biogenesis disorder 6BHP:0040283 - Occasional75
HP:0002345HP:0002080Intention tremor2PI4KA CL E G H52978983OMIM:619708GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 2; GIDID211
HP:0002345HP:0002599Head titubation2PI4KA CL E G H52978983OMIM:619708GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 2; GIDID211
HP:0002345HP:0002080Intention tremor2PIK3CA CL E G H52908975OMIM:615108Cowden syndrome 5.162
HP:0002345HP:0002080Intention tremor2PIK3CD CL E G H52938977ORPHA:221139Combined immunodeficiency with faciooculoskeletal anomaliesHP:0040282 - Frequent9
HP:0002345HP:0002080Intention tremor2PLA2G6 CL E G H83989039OMIM:610217Neurodegeneration with brain iron accumulation 2B.133
HP:0002345HP:0007351Upper limb postural tremor2PLA2G6 CL E G H83989039OMIM:612953Parkinson disease 14, autosomal recessive133
HP:0002345HP:0002599Head titubation2PLP1 CL E G H53549086OMIM:312080Pelizaeus-Merzbacher disease60
HP:0002345HP:0002080Intention tremor2PLP1 CL E G H53549086OMIM:312080Pelizaeus-Merzbacher disease60
HP:0002345HP:0002080Intention tremor2PMM2 CL E G H53739115OMIM:212065Congenital disorder of glycosylation, type Ia150
HP:0002345HP:0007351Upper limb postural tremor2PMP22 CL E G H53769118OMIM:180800Roussy-Levy hereditary areflexic dystasia.79
HP:0002345HP:0002080Intention tremor2PNPLA6 CL E G H1090816268OMIM:215470Boucher-Neuhauser syndrome.103
HP:0002345HP:0002080Intention tremor2POLG CL E G H54289179OMIM:258450Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive464
HP:0002345HP:0002080Intention tremor2POLR3A CL E G H1112830074ORPHA:447896Tremor-ataxia-central hypomyelination syndromeHP:0040282 - Frequent138
HP:0002345HP:0002080Intention tremor2POLR3A CL E G H1112830074OMIM:264090Wiedemann-Rautenstrauch syndrome.138
HP:0002345HP:0002080Intention tremor2POLR3B CL E G H5570330348OMIM:614381Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism.67
HP:0002345HP:0002080Intention tremor2POU4F1 CL E G H54579218OMIM:619352ATAXIA, INTENTION TREMOR, AND HYPOTONIA SYNDROME, CHILDHOOD-ONSET; ATITHS
HP:0002345HP:0002080Intention tremor2POU4F1 CL E G H54579218ORPHA:314647Non-progressive cerebellar ataxia with intellectual disabilityHP:0040284 - Very rare
HP:0002345HP:0002080Intention tremor2PPP2R2B CL E G H55219305ORPHA:98762Spinocerebellar ataxia type 12HP:0040283 - Occasional5
HP:0002345HP:0002080Intention tremor2PRICKLE1 CL E G H14416517019ORPHA:308Progressive myoclonic epilepsy type 1HP:0040282 - Frequent133
HP:0002345HP:0002080Intention tremor2PSAP CL E G H56609498OMIM:610539Gaucher disease, atypical81
HP:0002345HP:0002080Intention tremor2PSAP CL E G H56609498ORPHA:309271Metachromatic leukodystrophy, adult formHP:0040283 - Occasional81
HP:0002345HP:0002080Intention tremor2PSAP CL E G H56609498ORPHA:309263Metachromatic leukodystrophy, juvenile formHP:0040283 - Occasional81
HP:0002345HP:0002080Intention tremor2PTEN CL E G H57289588OMIM:158350Cowden syndrome 1.948
HP:0002345HP:0002080Intention tremor2QRICH1 CL E G H5487024713OMIM:617982VERVERI-BRADY SYNDROME; VERBRAS
HP:0002345HP:0002080Intention tremor2RARS1 CL E G H59179870OMIM:616140Leukodystrophy, hypomyelinating, 9.
HP:0002345HP:0002080Intention tremor2RARS1 CL E G H59179870ORPHA:438114RARS-related autosomal recessive hypomyelinating leukodystrophyHP:0040282 - Frequent
HP:0002345HP:0002080Intention tremor2RFC1 CL E G H59819969ORPHA:504476Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndromeHP:0040282 - Frequent
HP:0002345HP:0002080Intention tremor2RNF113A CL E G H773712974ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional3
HP:0002345HP:0002080Intention tremor2RNU12 CL E G H26701019380ORPHA:512260Congenital cerebellar ataxia due to RNU12 mutationHP:0040282 - Frequent
HP:0002345HP:0002080Intention tremor2SACS CL E G H2627810519ORPHA:98Autosomal recessive spastic ataxia of Charlevoix-SaguenayHP:0040283 - Occasional309
HP:0002345HP:0002080Intention tremor2SCARB2 CL E G H9501665OMIM:254900Epilepsy, progressive myoclonic, 4, with or without renal failure.77
HP:0002345HP:0002080Intention tremor2SCARB2 CL E G H9501665ORPHA:308Progressive myoclonic epilepsy type 1HP:0040282 - Frequent77
HP:0002345HP:0002080Intention tremor2SCP2 CL E G H634210606OMIM:613724Leukoencephalopathy with dystonia and motor neuropathy.4
HP:0002345HP:0002080Intention tremor2SCYL1 CL E G H5741014372ORPHA:466794Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndromeHP:0040282 - Frequent5
HP:0002345HP:0002080Intention tremor2SEMA6B CL E G H1050110739OMIM:618876EPILEPSY, PROGRESSIVE MYOCLONIC, 11; EPM11
HP:0002345HP:0002599Head titubation2SIGMAR1 CL E G H102808157ORPHA:300605Juvenile amyotrophic lateral sclerosisHP:0040283 - Occasional6
HP:0002345HP:0030147Truncal titubation2SLC19A3 CL E G H8070416266OMIM:607483Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2)110
HP:0002345HP:0002080Intention tremor2SLC25A46 CL E G H9113725198OMIM:616505Neuropathy, hereditary motor and sensory, type VIB14
HP:0002345HP:0002080Intention tremor2SMG9 CL E G H5600625763OMIM:6199952
HP:0002345HP:0002080Intention tremor2SNCA CL E G H662211138ORPHA:171695Parkinsonian-pyramidal syndromeHP:0040282 - Frequent65
HP:0002345HP:0002599Head titubation2SPG11 CL E G H8020811226ORPHA:300605Juvenile amyotrophic lateral sclerosisHP:0040283 - Occasional287
HP:0002345HP:0002599Head titubation2SPTBN1 CL E G H671111275OMIM:619475DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0002345HP:0002080Intention tremor2SPTBN1 CL E G H671111275OMIM:619475DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0002345HP:0002080Intention tremor2SPTBN2 CL E G H671211276ORPHA:352403Spectrin-associated autosomal recessive cerebellar ataxiaHP:0040283 - Occasional126
HP:0002345HP:0002080Intention tremor2SPTBN2 CL E G H671211276OMIM:600224Spinocerebellar ataxia 5.126
HP:0002345HP:0002080Intention tremor2SPTBN2 CL E G H671211276OMIM:615386Spinocerebellar ataxia, autosomal recessive 14.126
HP:0002345HP:0002599Head titubation2SPTLC1 CL E G H1055811277ORPHA:300605Juvenile amyotrophic lateral sclerosisHP:0040283 - Occasional54
HP:0002345HP:0002080Intention tremor2TARS1 CL E G H689711572ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional
HP:0002345HP:0002080Intention tremor2TBP CL E G H690811588OMIM:607136Spinocerebellar ataxia 17.7
HP:0002345HP:0002080Intention tremor2TECR CL E G H95244551OMIM:614020Mental retardation, autosomal recessive 1417
HP:0002345HP:0002080Intention tremor2TENM4 CL E G H2601129945OMIM:616736Tremor, hereditary essential, 55
HP:0002345HP:0002080Intention tremor2TGM6 CL E G H34364116255OMIM:613908Spinocerebellar ataxia 35.58
HP:0002345HP:0002080Intention tremor2TGM6 CL E G H34364116255ORPHA:276193Spinocerebellar ataxia type 35HP:0040282 - Frequent58
HP:0002345HP:0030147Truncal titubation2THG1L CL E G H5497426053OMIM:618800SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 28; SCAR28
HP:0002345HP:0002080Intention tremor2TMCO1 CL E G H5449918188OMIM:213980Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome6
HP:0002345HP:0002080Intention tremor2TMEM106B CL E G H5466422407OMIM:617964Leukodystrophy, hypomyelinating, 16.
HP:0002345HP:0002080Intention tremor2TMEM240 CL E G H33945325186OMIM:607454Spinocerebellar ataxia 219
HP:0002345HP:0002599Head titubation2TMEM63A CL E G H972529118OMIM:618688LEUKODYSTROPHY, HYPOMYELINATING, 19, TRANSIENT INFANTILE; HLD19
HP:0002345HP:0002080Intention tremor2TMEM63A CL E G H972529118OMIM:618688LEUKODYSTROPHY, HYPOMYELINATING, 19, TRANSIENT INFANTILE; HLD19
HP:0002345HP:0002080Intention tremor2TMEM70 CL E G H5496826050OMIM:614052Mitochondrial complex V (atp synthase) deficiency, nuclear type 2.63
HP:0002345HP:0002080Intention tremor2TPK1 CL E G H2701017358OMIM:614458Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type)21
HP:0002345HP:0007351Upper limb postural tremor2TUBB4A CL E G H1038220774ORPHA:98805Primary dystonia, DYT4 typeHP:0040283 - Occasional66
HP:0002345HP:0002599Head titubation2UCHL1 CL E G H734512513OMIM:615491Spastic paraplegia 79, autosomal recessive.21
HP:0002345HP:0002080Intention tremor2UCHL1 CL E G H734512513OMIM:615491Spastic paraplegia 79, autosomal recessiveHP:0040283 - Occasional21
HP:0002345HP:0002080Intention tremor2UFC1 CL E G H5150626941OMIM:618076Neurodevelopmental disorder with spasticity and poor growth.
HP:0002345HP:0002080Intention tremor2VLDLR CL E G H743612698OMIM:224050Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1.111
HP:0002345HP:0002599Head titubation2VPS13A CL E G H232301908ORPHA:2388ChoreoacanthocytosisHP:0040283 - Occasional130
HP:0002345HP:0002080Intention tremor2VWA3B CL E G H20040328385OMIM:616948Spinocerebellar ataxia, autosomal recessive 221


Genes (195) :AARS1 ABCB7 ABHD12 ACBD5 ADPRS AFG3L2 AKT1 ALDH18A1 ALS2 AMACR ANO10 ANO3 ARSA ATCAY ATM ATN1 ATP13A2 ATP2B3 ATP6 ATP6AP2 ATXN1 ATXN10 ATXN2 BRAT1 BSCL2 CACNA1A CACNA1C CACNA1G CAMTA1 CARS1 CARS2 CCDC88C CLCN2 COL6A3 COQ2 COX1 COX3 CSTB CTDP1 CWF19L1 CYP7B1 CYTB DNAJC19 DNAJC30 DRD3 EIF2AK2 ELOVL4 EPRS1 ERCC2 ERCC3 ERCC6 ERCC8 FARS2 FBXO7 FGF14 FLVCR1 FMR1 FUS FXN GABRA1 GABRG2 GALT GCH1 GJB1 GJC2 GSS GTF2E2 GTF2H5 HIBCH HSD17B4 HYCC1 IFRD1 IMPDH2 ITM2B ITPR1 JPH3 KCNC3 KCND3 KCNJ10 KCNK4 KCNN2 KIF1C KNSTRN LAMA1 LEMD2 LMAN2L LMNB1 MAG MAOA MFN2 MPLKIP MPZ MRE11 MYBPC1 ND1 ND2 ND4 ND4L ND5 ND6 NDRG1 NDUFS2 NFASC NGLY1 NIPA1 NKX2-1 NKX6-2 NONO NOP56 NOTCH2NLC NR4A2 OPA3 OPHN1 PARK7 PCDH19 PEX10 PI4KA PIGA PIK3CA PIK3CD PIK3R5 PITRM1 PLA2G6 PLP1 PMM2 PMP22 PNPLA6 POLG POLR3A POLR3B POU4F1 PPP1R15B PPP2R2B PRDX3 PRICKLE1 PRKRA PSAP PTEN QRICH1 RARS1 REEP2 RFC1 RILPL1 RNF113A RNU12 SACS SCARB2 SCN1A SCN1B SCN2A SCN9A SCP2 SCYL1 SEMA6B SETX SIGMAR1 SLC19A3 SLC25A46 SLC30A10 SLC6A17 SLC9A1 SMG9 SNCA SPG11 SPTBN1 SPTBN2 SPTLC1 STUB1 TARS1 TBP TECR TENM4 TGM6 TH THG1L TK2 TMCO1 TMEM106B TMEM240 TMEM63A TMEM70 TPK1 TPP1 TSPOAP1 TUBB4A UCHL1 UFC1 UROC1 VAPB VLDLR VPS13A VWA3B WARS2 XPNPEP3 YWHAG

Diseases (200) :OMIM:619691 OMIM:301310 OMIM:612674 OMIM:618863 OMIM:618170 ORPHA:101109 OMIM:615109 ORPHA:447757 ORPHA:447760 OMIM:205100 ORPHA:300605 OMIM:614307 ORPHA:284289 OMIM:613728 ORPHA:420485 ORPHA:309271 ORPHA:309263 ORPHA:94122 OMIM:601238 OMIM:208900 ORPHA:101 ORPHA:314632 OMIM:302500 ORPHA:314978 ORPHA:104 OMIM:535000 OMIM:300423 ORPHA:93952 ORPHA:98755 ORPHA:98761 OMIM:183090 ORPHA:98756 OMIM:618056 ORPHA:100998 OMIM:270685 ORPHA:98758 OMIM:620029 ORPHA:458803 ORPHA:314647 ORPHA:33364 ORPHA:477774 OMIM:616053 ORPHA:423275 OMIM:615651 OMIM:616411 ORPHA:464440 ORPHA:227510 ORPHA:98933 ORPHA:308 ORPHA:48431 ORPHA:453521 OMIM:616127 OMIM:270800 ORPHA:66634 OMIM:190300 OMIM:618877 OMIM:133190 OMIM:617951 ORPHA:90324 ORPHA:466722 ORPHA:171695 OMIM:193003 ORPHA:88628 OMIM:300623 ORPHA:93256 OMIM:614782 ORPHA:95 ORPHA:33069 ORPHA:79239 ORPHA:98808 OMIM:128230 ORPHA:1175 OMIM:608804 OMIM:613206 OMIM:266130 ORPHA:88639 OMIM:233400 OMIM:610532 ORPHA:98771 OMIM:117300 OMIM:206700 OMIM:606658 OMIM:117360 ORPHA:98769 ORPHA:208513 OMIM:606438 ORPHA:98768 OMIM:607346 ORPHA:199343 OMIM:612780 OMIM:618381 OMIM:619725 ORPHA:397946 OMIM:611302 ORPHA:221139 ORPHA:370022 OMIM:619322 OMIM:617863 ORPHA:99027 ORPHA:459056 OMIM:300615 ORPHA:99947 ORPHA:3115 OMIM:180800 ORPHA:251347 OMIM:618524 ORPHA:99950 OMIM:618356 ORPHA:404454 OMIM:615273 ORPHA:100988 ORPHA:209905 ORPHA:527497 OMIM:617560 ORPHA:466791 ORPHA:276198 OMIM:618866 OMIM:619911 ORPHA:67036 ORPHA:137831 OMIM:606324 OMIM:614871 OMIM:619708 OMIM:301072 OMIM:615108 ORPHA:64753 OMIM:619405 OMIM:610217 OMIM:612953 OMIM:312080 ORPHA:280219 ORPHA:280210 OMIM:212065 OMIM:215470 ORPHA:254886 OMIM:258450 OMIM:607694 ORPHA:447896 OMIM:264090 ORPHA:3455 OMIM:614381 OMIM:619352 OMIM:616817 OMIM:604326 ORPHA:98762 OMIM:619862 ORPHA:210571 OMIM:612067 OMIM:610539 OMIM:158350 OMIM:617982 OMIM:616140 ORPHA:438114 ORPHA:401849 ORPHA:504476 OMIM:619790 ORPHA:512260 ORPHA:98 OMIM:254900 OMIM:613724 ORPHA:466794 OMIM:618876 OMIM:607483 OMIM:616505 ORPHA:309854 OMIM:616269 OMIM:616291 OMIM:619995 OMIM:619475 ORPHA:352403 OMIM:600224 OMIM:615386 ORPHA:412057 OMIM:607136 OMIM:614020 OMIM:616736 OMIM:613908 ORPHA:276193 ORPHA:101150 OMIM:618800 OMIM:213980 OMIM:617964 OMIM:607454 OMIM:618688 OMIM:614052 OMIM:614458 ORPHA:284324 OMIM:609270 ORPHA:98805 OMIM:615491 OMIM:618076 OMIM:276880 ORPHA:210128 OMIM:608627 OMIM:224050 ORPHA:2388 OMIM:616948 OMIM:619738 OMIM:613159 OMIM:617665
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.