Human Phenotype Ontology 
Grandparent Node:
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Abnormality of movement (HP:0100022)help
Parent Node:
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Involuntary movements (HP:0004305)help
..Starting node
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Tremor (HP:0001337)help
Term ID: 1337
Name: Tremor
Synonym: Tremor; Tremors
Definition: An unintentional, oscillating to-and-fro muscle movement about a joint axis.
Comments:
Reference: HP:0001337
Genes and Diseases:
 
       Child Nodes:
........expandResting tremor (HP:0002322) help
................... HP:0025387 Pill-rolling tremor
........expandAction tremor (HP:0002345) help
................... HP:0002174 Postural tremor
................... HP:0012477 Vocal tremor
................... HP:0030185 Isometric tremor
................... HP:0030186 Kinetic tremor
................... HP:0030187 Titubation
........expandTremor by anatomical site (HP:0030188) help
................... HP:0002346 Head tremor
................... HP:0002378 Hand tremor
................... HP:0200085 Limb tremor
........expandRubral tremor (HP:0030665) help

 Sister Nodes: 
..expandAthetosis (HP:0002305) help
..expandChorea (HP:0002072) help
..expandClonus (HP:0002169) help
..expandFasciculations (HP:0002380) help
..expandHemiballismus (HP:0100248) help
..expandIntermittent painful muscle spasms (HP:0011964) help
..expandMotor stereotypy (HP:0000733) help
..expandMyoclonus (HP:0001336) help
..expandParoxysmal dyskinesia (HP:0007166) help
..expandSelf-mutilation of tongue and lips due to involuntary movements (HP:0008767) help
..expandTics (HP:0100033) 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:0001337HP:0001337Tremor0AARS1 CL E G H1620ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional
HP:0001337HP:0001337Tremor0AARS1 CL E G H1620OMIM:619691TRICHOTHIODYSTROPHY 8, NONPHOTOSENSITIVE; TTD8
HP:0001337HP:0001337Tremor0AARS2 CL E G H5750521022OMIM:615889Leukoencephalopathy, progressive, with ovarian failure.143
HP:0001337HP:0001337Tremor0AASS CL E G H1015717366ORPHA:2203HyperlysinemiaHP:0040283 - Occasional15
HP:0001337HP:0001337Tremor0AASS CL E G H1015717366ORPHA:3124SaccharopinuriaHP:0040283 - Occasional15
HP:0001337HP:0001337Tremor0ABCB11 CL E G H864742ORPHA:69665Intrahepatic cholestasis of pregnancyHP:0040284 - Very rare146
HP:0001337HP:0001337Tremor0ABCB4 CL E G H524445ORPHA:69665Intrahepatic cholestasis of pregnancyHP:0040284 - Very rare111
HP:0001337HP:0001337Tremor0ABCB6 CL E G H1005847OMIM:609153Pseudohyperkalemia, familial, 2, due to red cell leak20
HP:0001337HP:0001337Tremor0ABCB7 CL E G H2248OMIM:301310Anemia, sideroblastic, and spinocerebellar ataxia35
HP:0001337HP:0001337Tremor0ABHD12 CL E G H2609015868OMIM:612674Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract50
HP:0001337HP:0001337Tremor0ACBD5 CL E G H9145223338OMIM:618863RETINAL DYSTROPHY WITH LEUKODYSTROPHY; RDLKD1
HP:0001337HP:0001337Tremor0ACTL6B CL E G H51412160ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional2
HP:0001337HP:0001337Tremor0ADA2 CL E G H518161839ORPHA:820Sneddon syndromeHP:0040283 - Occasional22
HP:0001337HP:0001337Tremor0ADA2 CL E G H518161839OMIM:182410Sneddon syndrome.22
HP:0001337HP:0001337Tremor0ADAMTS13 CL E G H110931366OMIM:274150Thrombotic thrombocytopenic purpura, hereditary.129
HP:0001337HP:0001337Tremor0ADAR CL E G H103225ORPHA:51Aicardi-Goutières syndromeHP:0040283 - Occasional116
HP:0001337HP:0001337Tremor0ADAR CL E G H103225OMIM:615010Aicardi-Goutieres syndrome 6.116
HP:0001337HP:0001337Tremor0ADCY5 CL E G H111236OMIM:619647DYSKINESIA WITH OROFACIAL INVOLVEMENT, AUTOSOMAL RECESSIVE; DSKOR25
HP:0001337HP:0001337Tremor0ADCY5 CL E G H111236OMIM:606703Dyskinesia, familial, with facial myokymia25
HP:0001337HP:0001337Tremor0ADCY5 CL E G H111236ORPHA:324588Familial dyskinesia and facial myokymia25
HP:0001337HP:0001337Tremor0ADCY5 CL E G H111236OMIM:619651NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS AND DYSKINESIA; NEDHYD25
HP:0001337HP:0001337Tremor0ADGRV1 CL E G H8405917416ORPHA:36387Generalized epilepsy with febrile seizures-plusHP:0040284 - Very rare530
HP:0001337HP:0001337Tremor0ADH1C CL E G H126251OMIM:168600Parkinson disease, late-onset.4
HP:0001337HP:0001337Tremor0ADPRS CL E G H5493621304OMIM:618170Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures.
HP:0001337HP:0001337Tremor0ADRA2B CL E G H151282ORPHA:86814Benign adult familial myoclonic epilepsy3
HP:0001337HP:0001337Tremor0AFG3L2 CL E G H10939315ORPHA:101109Spinocerebellar ataxia type 2886
HP:0001337HP:0001337Tremor0AHI1 CL E G H5480621575ORPHA:475Joubert syndromeHP:0040283 - Occasional175
HP:0001337HP:0001337Tremor0AHI1 CL E G H5480621575ORPHA:220493Joubert syndrome with ocular defectHP:0040283 - Occasional175
HP:0001337HP:0001337Tremor0AIFM1 CL E G H91318768ORPHA:83629Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndromeHP:0040282 - Frequent60
HP:0001337HP:0001337Tremor0AIFM1 CL E G H91318768ORPHA:101078X-linked Charcot-Marie-Tooth disease type 4HP:0040283 - Occasional60
HP:0001337HP:0001337Tremor0AKT1 CL E G H207391OMIM:615109Cowden syndrome 654
HP:0001337HP:0001337Tremor0ALDH18A1 CL E G H58329722ORPHA:447753Autosomal dominant spastic paraplegia type 9AHP:0040283 - Occasional89
HP:0001337HP:0001337Tremor0ALDH18A1 CL E G H58329722ORPHA:447757Autosomal dominant spastic paraplegia type 9B89
HP:0001337HP:0001337Tremor0ALDH18A1 CL E G H58329722ORPHA:447760Autosomal recessive spastic paraplegia type 9B89
HP:0001337HP:0001337Tremor0ALDH18A1 CL E G H58329722OMIM:601162Spastic paraplegia 9A, autosomal dominant89
HP:0001337HP:0001337Tremor0ALDH18A1 CL E G H58329722OMIM:616586Spastic paraplegia 9B, autosomal recessiveHP:0040283 - Occasional89
HP:0001337HP:0001337Tremor0ALS2 CL E G H57679443OMIM:205100Amyotrophic lateral sclerosis 2, juvenile114
HP:0001337HP:0001337Tremor0ALS2 CL E G H57679443ORPHA:300605Juvenile amyotrophic lateral sclerosis114
HP:0001337HP:0001337Tremor0AMACR CL E G H23600451OMIM:614307Alpha-methylacyl-CoA racemase deficiencyHP:0040283 - Occasional44
HP:0001337HP:0001337Tremor0AMACR CL E G H23600451ORPHA:79095Congenital bile acid synthesis defect type 4HP:0040283 - Occasional44
HP:0001337HP:0001337Tremor0ANO10 CL E G H5512925519ORPHA:284289Adult-onset autosomal recessive cerebellar ataxia64
HP:0001337HP:0001337Tremor0ANO10 CL E G H5512925519OMIM:613728Spinocerebellar ataxia, autosomal recessive 1064
HP:0001337HP:0001337Tremor0ANO3 CL E G H6398214004ORPHA:420485Cranio-cervical dystonia with laryngeal and upper-limb involvement17
HP:0001337HP:0001337Tremor0ANO3 CL E G H6398214004OMIM:615034Dystonia 2417
HP:0001337HP:0001337Tremor0ANOS1 CL E G H37306211ORPHA:478Kallmann syndromeHP:0040283 - Occasional65
HP:0001337HP:0001337Tremor0AP2M1 CL E G H1173564OMIM:618587INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 60, WITH SEIZURES; MRD60
HP:0001337HP:0001337Tremor0AP2M1 CL E G H1173564ORPHA:1942Myoclonic-astatic epilepsyHP:0040283 - Occasional
HP:0001337HP:0001337Tremor0AP3B2 CL E G H8120567ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional7
HP:0001337HP:0001337Tremor0APC2 CL E G H1029724036ORPHA:821Sotos syndromeHP:0040283 - Occasional1
HP:0001337HP:0001337Tremor0APTX CL E G H5484015984OMIM:208920Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia.61
HP:0001337HP:0001337Tremor0AR CL E G H367644OMIM:313200Spinal and bulbar muscular atrophy, X-linked 1.125
HP:0001337HP:0001337Tremor0ARL13B CL E G H20089425419ORPHA:475Joubert syndromeHP:0040283 - Occasional62
HP:0001337HP:0001337Tremor0ARL3 CL E G H403694ORPHA:475Joubert syndromeHP:0040283 - Occasional1
HP:0001337HP:0001337Tremor0ARMC9 CL E G H8021020730ORPHA:475Joubert syndromeHP:0040283 - Occasional
HP:0001337HP:0001337Tremor0ARSA CL E G H410713ORPHA:309271Metachromatic leukodystrophy, adult form253
HP:0001337HP:0001337Tremor0ARSA CL E G H410713ORPHA:309263Metachromatic leukodystrophy, juvenile form253
HP:0001337HP:0001337Tremor0ARV1 CL E G H6480129561ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional3
HP:0001337HP:0001337Tremor0ARX CL E G H17030218060ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional166
HP:0001337HP:0001337Tremor0ASAH1 CL E G H427735OMIM:159950Spinal muscular atrophy with progressive myoclonic epilepsy.78
HP:0001337HP:0001337Tremor0ASAH1 CL E G H427735ORPHA:2590Spinal muscular atrophy-progressive myoclonic epilepsy syndromeHP:0040282 - Frequent78
HP:0001337HP:0001337Tremor0ATCAY CL E G H85300779ORPHA:94122Cerebellar ataxia, Cayman type72
HP:0001337HP:0001337Tremor0ATCAY CL E G H85300779OMIM:601238Cerebellar ataxia, Cayman type72
HP:0001337HP:0001337Tremor0ATG7 CL E G H1053316935OMIM:619422SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 31; SCAR311
HP:0001337HP:0001337Tremor0ATM CL E G H472795OMIM:208900ATAXIA-TELANGIECTASIA.3267
HP:0001337HP:0001337Tremor0ATM CL E G H472795ORPHA:100Ataxia-telangiectasiaHP:0040281 - Very frequent3267
HP:0001337HP:0001337Tremor0ATN1 CL E G H18223033ORPHA:101Dentatorubral pallidoluysian atrophy16
HP:0001337HP:0001337Tremor0ATP13A2 CL E G H2340030213ORPHA:314632ATP13A2-related juvenile neuronal ceroid lipofuscinosisHP:0040282 - Frequent100
HP:0001337HP:0001337Tremor0ATP13A2 CL E G H2340030213OMIM:606693Kufor-Rakeb syndrome100
HP:0001337HP:0001337Tremor0ATP13A2 CL E G H2340030213OMIM:617225SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE; SPG78100
HP:0001337HP:0001337Tremor0ATP1A2 CL E G H477800ORPHA:2131Alternating hemiplegia of childhoodHP:0040283 - Occasional239
HP:0001337HP:0001337Tremor0ATP1A2 CL E G H477800OMIM:602481Migraine, familial hemiplegic, 2239
HP:0001337HP:0001337Tremor0ATP1A2 CL E G H477800ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional239
HP:0001337HP:0001337Tremor0ATP1A3 CL E G H478801ORPHA:2131Alternating hemiplegia of childhoodHP:0040283 - Occasional150
HP:0001337HP:0001337Tremor0ATP1A3 CL E G H478801OMIM:128235Dystonia 12150
HP:0001337HP:0001337Tremor0ATP1A3 CL E G H478801ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional150
HP:0001337HP:0001337Tremor0ATP1A3 CL E G H478801ORPHA:71517Rapid-onset dystonia-parkinsonism150
HP:0001337HP:0001337Tremor0ATP2B3 CL E G H492816OMIM:302500Spinocerebellar ataxia, X-linked 119
HP:0001337HP:0001337Tremor0ATP2B3 CL E G H492816ORPHA:314978X-linked non progressive cerebellar ataxia19
HP:0001337HP:0001337Tremor0ATP6 CL E G H45087414ORPHA:104Leber hereditary optic neuropathy
HP:0001337HP:0001337Tremor0ATP6 CL E G H45087414OMIM:535000Leber optic atrophy
HP:0001337HP:0001337Tremor0ATP6AP2 CL E G H1015918305OMIM:300423MENTAL RETARDATION, X-LINKED, SYNDROMIC, HEDERA TYPE; MRXSH36
HP:0001337HP:0001337Tremor0ATP6AP2 CL E G H1015918305OMIM:300911Parkinsonism with spasticity, X-linked36
HP:0001337HP:0001337Tremor0ATP6AP2 CL E G H1015918305ORPHA:93952X-linked intellectual disability, Hedera type36
HP:0001337HP:0001337Tremor0ATP6AP2 CL E G H1015918305ORPHA:363654X-linked parkinsonism-spasticity syndrome36
HP:0001337HP:0001337Tremor0ATP6V1A CL E G H523851ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional3
HP:0001337HP:0001337Tremor0ATP7B CL E G H540870OMIM:277900Wilson disease.315
HP:0001337HP:0001337Tremor0ATP8B1 CL E G H52053706ORPHA:69665Intrahepatic cholestasis of pregnancyHP:0040284 - Very rare144
HP:0001337HP:0001337Tremor0ATXN1 CL E G H631010548ORPHA:98755Spinocerebellar ataxia type 119
HP:0001337HP:0001337Tremor0ATXN10 CL E G H2581410549ORPHA:98761Spinocerebellar ataxia type 109
HP:0001337HP:0001337Tremor0ATXN2 CL E G H631110555OMIM:168600Parkinson disease, late-onset.11
HP:0001337HP:0001337Tremor0ATXN2 CL E G H631110555OMIM:183090Spinocerebellar ataxia 211
HP:0001337HP:0001337Tremor0ATXN2 CL E G H631110555ORPHA:98756Spinocerebellar ataxia type 211
HP:0001337HP:0001337Tremor0ATXN7 CL E G H631410560OMIM:164500Spinocerebellar ataxia 7 opca III opca with retinal degeneration opca with macular degeneration and external ophthalmoplegia autosomal dominant cerebellar ataxia, type II adca, type II8
HP:0001337HP:0001337Tremor0ATXN8 CL E G H72406632925OMIM:608768Spinocerebellar ataxia 8.1
HP:0001337HP:0001337Tremor0ATXN8OS CL E G H631510561OMIM:168600Parkinson disease, late-onset.1
HP:0001337HP:0001337Tremor0ATXN8OS CL E G H631510561OMIM:608768Spinocerebellar ataxia 8.1
HP:0001337HP:0001337Tremor0B9D1 CL E G H2707724123ORPHA:475Joubert syndromeHP:0040283 - Occasional28
HP:0001337HP:0001337Tremor0B9D2 CL E G H8077628636ORPHA:475Joubert syndromeHP:0040283 - Occasional34
HP:0001337HP:0001337Tremor0BAZ1B CL E G H9031961ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0001337HP:0001337Tremor0BCL7B CL E G H92751005ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0001337HP:0001337Tremor0BEAN1 CL E G H14622724160ORPHA:217012Spinocerebellar ataxia type 31HP:0040283 - Occasional1
HP:0001337HP:0001337Tremor0BRAT1 CL E G H22192721701OMIM:618056Neurodevelopmental disorder with cerebellar atrophy and with or without seizures.20
HP:0001337HP:0001337Tremor0BSCL2 CL E G H2658015832ORPHA:100998Autosomal dominant spastic paraplegia type 17105
HP:0001337HP:0001337Tremor0BSCL2 CL E G H2658015832OMIM:615924Encephalopathy, progressive, with or without lipodystrophy.105
HP:0001337HP:0001337Tremor0BSCL2 CL E G H2658015832ORPHA:363400Severe neurodegenerative syndrome with lipodystrophyHP:0040282 - Frequent105
HP:0001337HP:0001337Tremor0BSCL2 CL E G H2658015832OMIM:270685Spastic paraplegia 17105
HP:0001337HP:0001337Tremor0BUD23 CL E G H11404916405ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0001337HP:0001337Tremor0C19ORF12 CL E G H8363625443ORPHA:289560Mitochondrial membrane protein-associated neurodegeneration114
HP:0001337HP:0001337Tremor0C19ORF12 CL E G H8363625443OMIM:614298Neurodegeneration with brain iron accumulation 4.114
HP:0001337HP:0001337Tremor0C9ORF72 CL E G H20322828337ORPHA:401901Huntington disease-like syndrome due to C9ORF72 expansionsHP:0040283 - Occasional56
HP:0001337HP:0001337Tremor0CA8 CL E G H7671382OMIM:613227Cerebellar ataxia, mental retardation, and dysequilibrium syndrome3.8
HP:0001337HP:0001337Tremor0CACNA1A CL E G H7731388ORPHA:2131Alternating hemiplegia of childhoodHP:0040283 - Occasional449
HP:0001337HP:0001337Tremor0CACNA1A CL E G H7731388OMIM:617106Epileptic encephalopathy, early infantile, 42.449
HP:0001337HP:0001337Tremor0CACNA1A CL E G H7731388OMIM:141500Migraine, familial hemiplegic, 1HP:0040283 - Occasional449
HP:0001337HP:0001337Tremor0CACNA1A CL E G H7731388ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional449
HP:0001337HP:0001337Tremor0CACNA1A CL E G H7731388ORPHA:98758Spinocerebellar ataxia type 6449
HP:0001337HP:0001337Tremor0CACNA1B CL E G H7741389ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional5
HP:0001337HP:0001337Tremor0CACNA1C CL E G H7751390OMIM:620029572
HP:0001337HP:0001337Tremor0CACNA1G CL E G H89131394OMIM:616795Spinocerebellar ataxia 42HP:0040283 - Occasional32
HP:0001337HP:0001337Tremor0CACNA1G CL E G H89131394ORPHA:458803Spinocerebellar ataxia type 4232
HP:0001337HP:0001337Tremor0CACNA1S CL E G H7791397ORPHA:79102Thyrotoxic periodic paralysisHP:0040282 - Frequent247
HP:0001337HP:0001337Tremor0CACNA2D1 CL E G H7811399ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional59
HP:0001337HP:0001337Tremor0CAMTA1 CL E G H2326118806OMIM:614756Cerebellar ataxia, nonprogressive, with mental retardation34
HP:0001337HP:0001337Tremor0CAMTA1 CL E G H2326118806ORPHA:314647Non-progressive cerebellar ataxia with intellectual disability34
HP:0001337HP:0001337Tremor0CARS1 CL E G H8331493ORPHA:33364Trichothiodystrophy
HP:0001337HP:0001337Tremor0CARS2 CL E G H7958725695ORPHA:477774Combined oxidative phosphorylation defect type 2735
HP:0001337HP:0001337Tremor0CASK CL E G H85731497ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional118
HP:0001337HP:0001337Tremor0CBY1 CL E G H257761307ORPHA:475Joubert syndromeHP:0040283 - Occasional1
HP:0001337HP:0001337Tremor0CC2D2A CL E G H5754529253ORPHA:1454Joubert syndrome with hepatic defectHP:0040283 - Occasional247
HP:0001337HP:0001337Tremor0CCDC141 CL E G H28502526821ORPHA:478Kallmann syndromeHP:0040283 - Occasional
HP:0001337HP:0001337Tremor0CCDC88C CL E G H44019319967OMIM:616053Spinocerebellar ataxia 4054
HP:0001337HP:0001337Tremor0CCDC88C CL E G H44019319967ORPHA:423275Spinocerebellar ataxia type 4054
HP:0001337HP:0001337Tremor0CD28 CL E G H9401653ORPHA:3162Sézary syndromeHP:0040283 - Occasional
HP:0001337HP:0001337Tremor0CDC42BPB CL E G H95781738OMIM:619841
HP:0001337HP:0001337Tremor0CDH23 CL E G H6407213733ORPHA:91347TSH-secreting pituitary adenomaHP:0040282 - Frequent636
HP:0001337HP:0001337Tremor0CDK19 CL E G H2309719338ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional
HP:0001337HP:0001337Tremor0CDKL5 CL E G H679211411ORPHA:3095Atypical Rett syndromeHP:0040283 - Occasional405
HP:0001337HP:0001337Tremor0CDKL5 CL E G H679211411ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional405
HP:0001337HP:0001337Tremor0CELF2 CL E G H106592550OMIM:619561DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 97; DEE97
HP:0001337HP:0001337Tremor0CELF2 CL E G H106592550ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional
HP:0001337HP:0001337Tremor0CEP104 CL E G H973124866OMIM:6199885
HP:0001337HP:0001337Tremor0CEP104 CL E G H973124866ORPHA:475Joubert syndromeHP:0040283 - Occasional5
HP:0001337HP:0001337Tremor0CEP120 CL E G H15324126690ORPHA:475Joubert syndromeHP:0040283 - Occasional7
HP:0001337HP:0001337Tremor0CEP120 CL E G H15324126690ORPHA:220493Joubert syndrome with ocular defectHP:0040283 - Occasional7
HP:0001337HP:0001337Tremor0CEP126 CL E G H5756229264ORPHA:65684Monomelic amyotrophyHP:0040283 - Occasional
HP:0001337HP:0001337Tremor0CEP41 CL E G H9568112370ORPHA:475Joubert syndromeHP:0040283 - Occasional90
HP:0001337HP:0001337Tremor0CEP41 CL E G H9568112370ORPHA:220493Joubert syndrome with ocular defectHP:0040283 - Occasional90
HP:0001337HP:0001337Tremor0CHCHD10 CL E G H40091615559ORPHA:276435Lower motor neuron syndrome with late-adult onsetHP:0040283 - Occasional11
HP:0001337HP:0001337Tremor0CHCHD10 CL E G H40091615559OMIM:615048Spinal muscular atrophy, Jokela typeHP:0040283 - Occasional11
HP:0001337HP:0001337Tremor0CHCHD2 CL E G H5114221645OMIM:616710Parkinson disease 22, autosomal dominant.3
HP:0001337HP:0001337Tremor0CHD2 CL E G H11061917ORPHA:1942Myoclonic-astatic epilepsyHP:0040283 - Occasional227
HP:0001337HP:0001337Tremor0CHD7 CL E G H5563620626ORPHA:478Kallmann syndromeHP:0040283 - Occasional515
HP:0001337HP:0001337Tremor0CIZ1 CL E G H2579216744ORPHA:420492Adult-onset cervical dystonia, DYT23 type16
HP:0001337HP:0001337Tremor0CLCN2 CL E G H11812020OMIM:615651Leukoencephalopathy with ataxia44
HP:0001337HP:0001337Tremor0CLCN7 CL E G H11862025ORPHA:667Autosomal recessive malignant osteopetrosisHP:0040281 - Very frequent102
HP:0001337HP:0001337Tremor0CLIP2 CL E G H74612586ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0001337HP:0001337Tremor0CLN5 CL E G H12032076ORPHA:228360CLN5 diseaseHP:0040283 - Occasional141
HP:0001337HP:0001337Tremor0CLPB CL E G H8157030664OMIM:6162713-Methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia38
HP:0001337HP:0001337Tremor0CLTC CL E G H12132092ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional1
HP:0001337HP:0001337Tremor0CNKSR2 CL E G H2286619701ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional18
HP:0001337HP:0001337Tremor0CNTN2 CL E G H69002172ORPHA:86814Benign adult familial myoclonic epilepsy9
HP:0001337HP:0001337Tremor0CNTN2 CL E G H69002172OMIM:615400Epilepsy, familial adult myoclonic, 5.9
HP:0001337HP:0001337Tremor0COA7 CL E G H6526025716OMIM:618387Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3.
HP:0001337HP:0001337Tremor0COL6A3 CL E G H12932213OMIM:616411Dystonia 27702
HP:0001337HP:0001337Tremor0COL6A3 CL E G H12932213ORPHA:464440Primary dystonia, DYT27 type702
HP:0001337HP:0001337Tremor0COQ2 CL E G H2723525223OMIM:607426Coenzyme Q10 deficiency, primary, 154
HP:0001337HP:0001337Tremor0COQ2 CL E G H2723525223OMIM:146500Multiple system atrophy 1, susceptibility to.54
HP:0001337HP:0001337Tremor0COQ2 CL E G H2723525223ORPHA:227510Multiple system atrophy, cerebellar type54
HP:0001337HP:0001337Tremor0COQ2 CL E G H2723525223ORPHA:98933Multiple system atrophy, parkinsonian type54
HP:0001337HP:0001337Tremor0COQ5 CL E G H8427428722OMIM:619028COENZYME Q10 DEFICIENCY, PRIMARY, 9; COQ10D9
HP:0001337HP:0001337Tremor0COQ8A CL E G H5699716812ORPHA:139485Autosomal recessive ataxia due to ubiquinone deficiencyHP:0040283 - Occasional136
HP:0001337HP:0001337Tremor0COQ8A CL E G H5699716812OMIM:612016Coenzyme Q10 deficiency, primary, 4HP:0040283 - Occasional136
HP:0001337HP:0001337Tremor0COX1 CL E G H45127419ORPHA:104Leber hereditary optic neuropathy
HP:0001337HP:0001337Tremor0COX3 CL E G H45147422ORPHA:104Leber hereditary optic neuropathy
HP:0001337HP:0001337Tremor0COX3 CL E G H45147422OMIM:535000Leber optic atrophy
HP:0001337HP:0001337Tremor0CP CL E G H13562295ORPHA:48818AceruloplasminemiaHP:0040283 - Occasional115
HP:0001337HP:0001337Tremor0CPLANE1 CL E G H6525025801ORPHA:475Joubert syndromeHP:0040283 - Occasional
HP:0001337HP:0001337Tremor0CPLANE1 CL E G H6525025801ORPHA:65684Monomelic amyotrophyHP:0040283 - Occasional
HP:0001337HP:0001337Tremor0CPLANE1 CL E G H6525025801ORPHA:2754Orofaciodigital syndrome type 6HP:0040283 - Occasional
HP:0001337HP:0001337Tremor0CRAT CL E G H13842342OMIM:617917Neurodegeneration with brain iron accumulation 8.
HP:0001337HP:0001337Tremor0CSPP1 CL E G H7984826193ORPHA:475Joubert syndromeHP:0040283 - Occasional57
HP:0001337HP:0001337Tremor0CSTB CL E G H14762482ORPHA:308Progressive myoclonic epilepsy type 151
HP:0001337HP:0001337Tremor0CTC1 CL E G H8016926169OMIM:612199Cerebroretinal microangiopathy with calcifications and cysts.160
HP:0001337HP:0001337Tremor0CTDP1 CL E G H91502498ORPHA:48431Congenital cataracts-facial dysmorphism-neuropathy syndrome17
HP:0001337HP:0001337Tremor0CTH CL E G H14912501ORPHA:212CystathioninuriaHP:0040283 - Occasional38
HP:0001337HP:0001337Tremor0CTLA4 CL E G H14932505ORPHA:3162Sézary syndromeHP:0040283 - Occasional10
HP:0001337HP:0001337Tremor0CTNND2 CL E G H15012516ORPHA:86814Benign adult familial myoclonic epilepsy15
HP:0001337HP:0001337Tremor0CTSF CL E G H87222531OMIM:615362Ceroid lipofuscinosis, neuronal, 13.20
HP:0001337HP:0001337Tremor0CUL4B CL E G H84502555OMIM:300354Mental retardation, X-linked, syndromic, Cabezas type38
HP:0001337HP:0001337Tremor0CUL4B CL E G H84502555ORPHA:85293X-linked intellectual disability, Cabezas typeHP:0040282 - Frequent38
HP:0001337HP:0001337Tremor0CWF19L1 CL E G H5528025613ORPHA:453521Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency9
HP:0001337HP:0001337Tremor0CWF19L1 CL E G H5528025613OMIM:616127Spinocerebellar ataxia, autosomal recessive 17.9
HP:0001337HP:0001337Tremor0CYFIP2 CL E G H2699913760ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional1
HP:0001337HP:0001337Tremor0CYP27A1 CL E G H15932605ORPHA:909Cerebrotendinous xanthomatosis114
HP:0001337HP:0001337Tremor0CYP7B1 CL E G H94202652OMIM:270800Spastic paraplegia 5A, autosomal recessive57
HP:0001337HP:0001337Tremor0CYTB CL E G H45197427ORPHA:104Leber hereditary optic neuropathy
HP:0001337HP:0001337Tremor0CYTB CL E G H45197427OMIM:535000Leber optic atrophy
HP:0001337HP:0001337Tremor0DAB1 CL E G H16002661OMIM:615945Spinocerebellar ataxia 37HP:0040283 - Occasional4
HP:0001337HP:0001337Tremor0DAB1 CL E G H16002661ORPHA:363710Spinocerebellar ataxia type 37HP:0040282 - Frequent4
HP:0001337HP:0001337Tremor0DALRD3 CL E G H5515225536ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional
HP:0001337HP:0001337Tremor0DARS2 CL E G H5515725538ORPHA:137898Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndromeHP:0040282 - Frequent60
HP:0001337HP:0001337Tremor0DARS2 CL E G H5515725538OMIM:611105Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation.60
HP:0001337HP:0001337Tremor0DCC CL E G H16302701ORPHA:478Kallmann syndromeHP:0040283 - Occasional36
HP:0001337HP:0001337Tremor0DCTN1 CL E G H16392711OMIM:168605Perry syndrome86
HP:0001337HP:0001337Tremor0DCTN1 CL E G H16392711ORPHA:178509Perry syndromeHP:0040281 - Very frequent86
HP:0001337HP:0001337Tremor0DDC CL E G H16442719OMIM:608643Aromatic L-amino acid decarboxylase deficiency43
HP:0001337HP:0001337Tremor0DDOST CL E G H16502728ORPHA:300536DDOST-CDGHP:0040281 - Very frequent62
HP:0001337HP:0001337Tremor0DHDDS CL E G H7994720603OMIM:617836Developmental delay and seizures with or without movement abnormalities47
HP:0001337HP:0001337Tremor0DHDDS CL E G H7994720603ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional47
HP:0001337HP:0001337Tremor0DLST CL E G H17432911ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040283 - Occasional
HP:0001337HP:0001337Tremor0DMXL2 CL E G H233122938ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional3
HP:0001337HP:0001337Tremor0DNAJC13 CL E G H2331730343ORPHA:411602Hereditary late-onset Parkinson disease2
HP:0001337HP:0001337Tremor0DNAJC19 CL E G H13111830528ORPHA:66634Dilated cardiomyopathy with ataxia25
HP:0001337HP:0001337Tremor0DNAJC30 CL E G H8427716410ORPHA:104Leber hereditary optic neuropathy
HP:0001337HP:0001337Tremor0DNAJC30 CL E G H8427716410ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0001337HP:0001337Tremor0DNAJC6 CL E G H982915469ORPHA:391411Atypical juvenile parkinsonism6
HP:0001337HP:0001337Tremor0DNAJC6 CL E G H982915469OMIM:615528Parkinson disease 19a, juvenile-onset.6
HP:0001337HP:0001337Tremor0DNAJC6 CL E G H982915469ORPHA:2828Young-onset Parkinson diseaseHP:0040282 - Frequent6
HP:0001337HP:0001337Tremor0DNM1 CL E G H17592972ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional72
HP:0001337HP:0001337Tremor0DNM1L CL E G H100592973ORPHA:330050DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defectHP:0040283 - Occasional94
HP:0001337HP:0001337Tremor0DNMT1 CL E G H17862976ORPHA:314404Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome145
HP:0001337HP:0001337Tremor0DNMT3A CL E G H17882978ORPHA:276621Sporadic pheochromocytoma/secreting paragangliomaHP:0040283 - Occasional44
HP:0001337HP:0001337Tremor0DPAGT1 CL E G H17982995OMIM:608093Congenital disorder of glycosylation, type IjHP:0040283 - Occasional38
HP:0001337HP:0001337Tremor0DPAGT1 CL E G H17982995ORPHA:86309DPAGT1-CDGHP:0040284 - Very rare38
HP:0001337HP:0001337Tremor0DPM1 CL E G H88133005OMIM:608799Congenital disorder of glycosylation, type IE.27
HP:0001337HP:0001337Tremor0DRD3 CL E G H18143024OMIM:190300Tremor, hereditary essential, 121
HP:0001337HP:0001337Tremor0DUSP6 CL E G H18483072ORPHA:478Kallmann syndromeHP:0040283 - Occasional4
HP:0001337HP:0001337Tremor0EEF1A2 CL E G H19173192ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional60
HP:0001337HP:0001337Tremor0EIF2AK2 CL E G H56109437OMIM:618877LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME; LEUDEN
HP:0001337HP:0001337Tremor0EIF4G1 CL E G H19813296ORPHA:411602Hereditary late-onset Parkinson disease2
HP:0001337HP:0001337Tremor0EIF4G1 CL E G H19813296OMIM:614251Parkinson disease 182
HP:0001337HP:0001337Tremor0EIF4H CL E G H745812741ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0001337HP:0001337Tremor0ELN CL E G H20063327ORPHA:904Williams syndromeHP:0040281 - Very frequent172
HP:0001337HP:0001337Tremor0ELOVL1 CL E G H6483414418OMIM:618527Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features
HP:0001337HP:0001337Tremor0ELOVL4 CL E G H678514415OMIM:133190Spinocerebellar ataxia 3462
HP:0001337HP:0001337Tremor0ELOVL5 CL E G H6048121308ORPHA:423296Spinocerebellar ataxia type 38HP:0040284 - Very rare4
HP:0001337HP:0001337Tremor0EPAS1 CL E G H20343374ORPHA:276621Sporadic pheochromocytoma/secreting paragangliomaHP:0040283 - Occasional112
HP:0001337HP:0001337Tremor0EPRS1 CL E G H20583418OMIM:617951Leukodystrophy, hypomyelinating, 15
HP:0001337HP:0001337Tremor0ERCC2 CL E G H20683434ORPHA:33364Trichothiodystrophy106
HP:0001337HP:0001337Tremor0ERCC3 CL E G H20713435ORPHA:33364Trichothiodystrophy54
HP:0001337HP:0001337Tremor0ERCC4 CL E G H20723436ORPHA:90321Cockayne syndrome type 1HP:0040282 - Frequent158
HP:0001337HP:0001337Tremor0ERCC4 CL E G H20723436OMIM:278760Xeroderma pigmentosum, complementation group FHP:0040283 - Occasional158
HP:0001337HP:0001337Tremor0ERCC5 CL E G H20733437OMIM:278780Xeroderma pigmentosum, complementation group GHP:0040283 - Occasional83
HP:0001337HP:0001337Tremor0ERCC6 CL E G H20743438ORPHA:90321Cockayne syndrome type 1HP:0040282 - Frequent199
HP:0001337HP:0001337Tremor0ERCC6 CL E G H20743438ORPHA:90324Cockayne syndrome type 3199
HP:0001337HP:0001337Tremor0ERCC6 CL E G H20743438OMIM:133540Cockayne syndrome, type B.199
HP:0001337HP:0001337Tremor0ERCC8 CL E G H11613439OMIM:216400Cockayne syndrome A.55
HP:0001337HP:0001337Tremor0ERCC8 CL E G H11613439ORPHA:90321Cockayne syndrome type 1HP:0040282 - Frequent55
HP:0001337HP:0001337Tremor0ERCC8 CL E G H11613439ORPHA:90324Cockayne syndrome type 355
HP:0001337HP:0001337Tremor0ERLIN2 CL E G H111601356ORPHA:209951Autosomal recessive spastic paraplegia type 1818
HP:0001337HP:0001337Tremor0ERLIN2 CL E G H111601356ORPHA:280384Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome18
HP:0001337HP:0001337Tremor0FAM149B1 CL E G H31766229162ORPHA:2754Orofaciodigital syndrome type 6HP:0040283 - Occasional
HP:0001337HP:0001337Tremor0FAR1 CL E G H8418826222ORPHA:447753Autosomal dominant spastic paraplegia type 9AHP:0040283 - Occasional7
HP:0001337HP:0001337Tremor0FARS2 CL E G H1066721062ORPHA:466722Autosomal recessive spastic paraplegia type 7736
HP:0001337HP:0001337Tremor0FBXO7 CL E G H2579313586OMIM:260300Parkinson disease 15, autosomal recessive early-onset.36
HP:0001337HP:0001337Tremor0FBXO7 CL E G H2579313586ORPHA:171695Parkinsonian-pyramidal syndrome36
HP:0001337HP:0001337Tremor0FEZF1 CL E G H38954922788ORPHA:478Kallmann syndromeHP:0040283 - Occasional2
HP:0001337HP:0001337Tremor0FGF12 CL E G H22573668ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional3
HP:0001337HP:0001337Tremor0FGF13 CL E G H22583670ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional1
HP:0001337HP:0001337Tremor0FGF14 CL E G H22593671OMIM:193003Nystagmus 4, congenital, autosomal dominant47
HP:0001337HP:0001337Tremor0FGF14 CL E G H22593671ORPHA:98764Spinocerebellar ataxia type 27HP:0040281 - Very frequent47
HP:0001337HP:0001337Tremor0FGF17 CL E G H88223673ORPHA:478Kallmann syndromeHP:0040283 - Occasional3
HP:0001337HP:0001337Tremor0FGF8 CL E G H22533686ORPHA:478Kallmann syndromeHP:0040283 - Occasional17
HP:0001337HP:0001337Tremor0FGFR1 CL E G H22603688ORPHA:478Kallmann syndromeHP:0040283 - Occasional172
HP:0001337HP:0001337Tremor0FH CL E G H22713700ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040283 - Occasional301
HP:0001337HP:0001337Tremor0FKBP6 CL E G H84683722ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0001337HP:0001337Tremor0FLRT3 CL E G H237673762ORPHA:478Kallmann syndromeHP:0040283 - Occasional4
HP:0001337HP:0001337Tremor0FLVCR1 CL E G H2898224682ORPHA:88628Posterior column ataxia-retinitis pigmentosa syndrome111
HP:0001337HP:0001337Tremor0FMR1 CL E G H23323775OMIM:300623Fragile X tremor/ataxia syndrome30
HP:0001337HP:0001337Tremor0FMR1 CL E G H23323775ORPHA:93256Fragile X-associated tremor/ataxia syndrome30
HP:0001337HP:0001337Tremor0FRMPD4 CL E G H975829007OMIM:300983MENTAL RETARDATION, X-LINKED 104; MRX10432
HP:0001337HP:0001337Tremor0FTL CL E G H25123999OMIM:606159Neurodegeneration with brain iron accumulation 333
HP:0001337HP:0001337Tremor0FTL CL E G H25123999ORPHA:157846Neuroferritinopathy33
HP:0001337HP:0001337Tremor0FUS CL E G H25214010ORPHA:300605Juvenile amyotrophic lateral sclerosis105
HP:0001337HP:0001337Tremor0FUS CL E G H25214010OMIM:614782TREMOR, HEREDITARY ESSENTIAL, 4; ETM4105
HP:0001337HP:0001337Tremor0FXN CL E G H23953951ORPHA:95Friedreich ataxia18
HP:0001337HP:0001337Tremor0FZR1 CL E G H5134324824ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional
HP:0001337HP:0001337Tremor0GABBR2 CL E G H95684507ORPHA:3095Atypical Rett syndromeHP:0040283 - Occasional5
HP:0001337HP:0001337Tremor0GABBR2 CL E G H95684507ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional5
HP:0001337HP:0001337Tremor0GABRA1 CL E G H25544075ORPHA:33069Dravet syndrome134
HP:0001337HP:0001337Tremor0GABRA2 CL E G H25554076ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional4
HP:0001337HP:0001337Tremor0GABRA3 CL E G H25564077ORPHA:79102Thyrotoxic periodic paralysisHP:0040282 - Frequent
HP:0001337HP:0001337Tremor0GABRA5 CL E G H25584079ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional
HP:0001337HP:0001337Tremor0GABRB2 CL E G H25614082ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional44
HP:0001337HP:0001337Tremor0GABRD CL E G H25634084ORPHA:36387Generalized epilepsy with febrile seizures-plusHP:0040284 - Very rare10
HP:0001337HP:0001337Tremor0GABRG2 CL E G H25664087ORPHA:33069Dravet syndrome139
HP:0001337HP:0001337Tremor0GABRG2 CL E G H25664087ORPHA:36387Generalized epilepsy with febrile seizures-plusHP:0040284 - Very rare139
HP:0001337HP:0001337Tremor0GABRG2 CL E G H25664087ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional139
HP:0001337HP:0001337Tremor0GALC CL E G H25814115ORPHA:206443Late-infantile/juvenile Krabbe diseaseHP:0040283 - Occasional160
HP:0001337HP:0001337Tremor0GALT CL E G H25924135ORPHA:79239Classic galactosemia351
HP:0001337HP:0001337Tremor0GAMT CL E G H25934136OMIM:612736Cerebral creatine deficiency syndrome 291
HP:0001337HP:0001337Tremor0GBA1 CL E G H26294177ORPHA:411602Hereditary late-onset Parkinson disease
HP:0001337HP:0001337Tremor0GBA1 CL E G H26294177OMIM:168600Parkinson disease, late-onset.
HP:0001337HP:0001337Tremor0GBA2 CL E G H5770418986ORPHA:352641Autosomal recessive cerebellar ataxia with late-onset spasticity30
HP:0001337HP:0001337Tremor0GBA2 CL E G H5770418986ORPHA:320391Autosomal recessive spastic paraplegia type 4630
HP:0001337HP:0001337Tremor0GBA2 CL E G H5770418986OMIM:614409Spastic paraplegia 46, autosomal recessive30
HP:0001337HP:0001337Tremor0GCDH CL E G H26394189ORPHA:25Glutaryl-CoA dehydrogenase deficiencyHP:0040283 - Occasional115
HP:0001337HP:0001337Tremor0GCH1 CL E G H26434193ORPHA:98808Autosomal dominant dopa-responsive dystonia86
HP:0001337HP:0001337Tremor0GCH1 CL E G H26434193OMIM:128230Dystonia, DOPA-responsive, with or without hyperphenylalaninemia86
HP:0001337HP:0001337Tremor0GCH1 CL E G H26434193OMIM:233910Hyperphenylalaninemia, BH4-deficient, B.86
HP:0001337HP:0001337Tremor0GCK CL E G H26454195ORPHA:79299Hyperinsulinism due to glucokinase deficiency237
HP:0001337HP:0001337Tremor0GGT1 CL E G H26784250OMIM:231950GLUTATHIONURIAHP:0040284 - Very rare
HP:0001337HP:0001337Tremor0GIGYF2 CL E G H2605811960ORPHA:411602Hereditary late-onset Parkinson disease8
HP:0001337HP:0001337Tremor0GIGYF2 CL E G H2605811960OMIM:607688PARKINSON DISEASE 11, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO; PARK118
HP:0001337HP:0001337Tremor0GJA5 CL E G H27024279OMIM:612474Chromosome 1q21.1 deletion syndrome, 1.35-mb39
HP:0001337HP:0001337Tremor0GJA8 CL E G H27034281OMIM:612474Chromosome 1q21.1 deletion syndrome, 1.35-mb34
HP:0001337HP:0001337Tremor0GJB1 CL E G H27054283OMIM:302800Charcot-Marie-Tooth neuropathy, X-linked dominant, 1.107
HP:0001337HP:0001337Tremor0GJB1 CL E G H27054283ORPHA:101075X-linked Charcot-Marie-Tooth disease type 1HP:0040283 - Occasional107
HP:0001337HP:0001337Tremor0GJB1 CL E G H27054283ORPHA:1175X-linked progressive cerebellar ataxia107
HP:0001337HP:0001337Tremor0GJC2 CL E G H5716517494OMIM:608804Leukodystrophy, hypomyelinating, 237
HP:0001337HP:0001337Tremor0GJC2 CL E G H5716517494OMIM:613206Spastic paraplegia 44, autosomal recessive37
HP:0001337HP:0001337Tremor0GLUD2 CL E G H27474336OMIM:168600Parkinson disease, late-onset.1
HP:0001337HP:0001337Tremor0GNAO1 CL E G H27754389ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional36
HP:0001337HP:0001337Tremor0GOSR2 CL E G H95704431OMIM:614018Epilepsy, progressive myoclonic, 6.88
HP:0001337HP:0001337Tremor0GPAA1 CL E G H87334446OMIM:617810GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15; GPIBD15
HP:0001337HP:0001337Tremor0GPAA1 CL E G H87334446ORPHA:529665Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndromeHP:0040282 - Frequent
HP:0001337HP:0001337Tremor0GPT2 CL E G H8470618062ORPHA:477673Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndromeHP:0040283 - Occasional4
HP:0001337HP:0001337Tremor0GRIA3 CL E G H28924573OMIM:300699Mental retardation, X-linked 9430
HP:0001337HP:0001337Tremor0GRIK2 CL E G H28984580OMIM:611092Mental retardation, autosomal recessive 6HP:0040283 - Occasional32
HP:0001337HP:0001337Tremor0GRIN1 CL E G H29024584ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional108
HP:0001337HP:0001337Tremor0GRIN2D CL E G H29064588ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional2
HP:0001337HP:0001337Tremor0GRM1 CL E G H29114593OMIM:614831SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13; SCAR138
HP:0001337HP:0001337Tremor0GRM7 CL E G H29174599ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional5
HP:0001337HP:0001337Tremor0GSS CL E G H29374624OMIM:266130Glutathione synthetase deficiency39
HP:0001337HP:0001337Tremor0GTF2E2 CL E G H29614651ORPHA:33364Trichothiodystrophy2
HP:0001337HP:0001337Tremor0GTF2H5 CL E G H40467221157ORPHA:33364Trichothiodystrophy3
HP:0001337HP:0001337Tremor0GTF2I CL E G H29694659ORPHA:904Williams syndromeHP:0040281 - Very frequent1
HP:0001337HP:0001337Tremor0GTF2IRD1 CL E G H95694661ORPHA:904Williams syndromeHP:0040281 - Very frequent1
HP:0001337HP:0001337Tremor0GTF2IRD2 CL E G H8416330775ORPHA:904Williams syndromeHP:0040281 - Very frequent1
HP:0001337HP:0001337Tremor0GTPBP2 CL E G H546764670OMIM:617988Jaberi-Elahi syndrome.
HP:0001337HP:0001337Tremor0HCN1 CL E G H3489804845ORPHA:36387Generalized epilepsy with febrile seizures-plusHP:0040284 - Very rare54
HP:0001337HP:0001337Tremor0HCN1 CL E G H3489804845ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional54
HP:0001337HP:0001337Tremor0HESX1 CL E G H88204877ORPHA:478Kallmann syndromeHP:0040283 - Occasional21
HP:0001337HP:0001337Tremor0HEXB CL E G H30744879ORPHA:309169Sandhoff disease, adult form80
HP:0001337HP:0001337Tremor0HIBCH CL E G H262754908ORPHA:88639Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency32
HP:0001337HP:0001337Tremor0HMBS CL E G H31454982ORPHA:79276Acute intermittent porphyriaHP:0040284 - Very rare81
HP:0001337HP:0001337Tremor0HMGA2 CL E G H80915009ORPHA:9406312q14 microdeletion syndromeHP:0040282 - Frequent2
HP:0001337HP:0001337Tremor0HNF4A CL E G H31725024ORPHA:263455Hyperinsulinism due to HNF4A deficiencyHP:0040281 - Very frequent138
HP:0001337HP:0001337Tremor0HPCA CL E G H32085144OMIM:224500Dystonia 2, torsion, autosomal recessive.4
HP:0001337HP:0001337Tremor0HPCA CL E G H32085144ORPHA:99657Primary dystonia, DYT2 typeHP:0040282 - Frequent4
HP:0001337HP:0001337Tremor0HS6ST1 CL E G H93945201ORPHA:478Kallmann syndromeHP:0040283 - Occasional8
HP:0001337HP:0001337Tremor0HSD17B4 CL E G H32955213OMIM:233400Perrault syndrome 198
HP:0001337HP:0001337Tremor0HTRA2 CL E G H2742914348OMIM:6172483-methylglutaconic aciduria, type VIII.39
HP:0001337HP:0001337Tremor0HTRA2 CL E G H2742914348OMIM:610297PARKINSON DISEASE 13, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO; PARK1339
HP:0001337HP:0001337Tremor0HTRA2 CL E G H2742914348ORPHA:2828Young-onset Parkinson diseaseHP:0040282 - Frequent39
HP:0001337HP:0001337Tremor0HTT CL E G H30644851OMIM:617435Lopes-Maciel-Rodan syndrome.12
HP:0001337HP:0001337Tremor0HYCC1 CL E G H8466824587OMIM:610532Leukodystrophy, hypomyelinating, 5
HP:0001337HP:0001337Tremor0HYLS1 CL E G H21984426558ORPHA:475Joubert syndromeHP:0040283 - Occasional31
HP:0001337HP:0001337Tremor0IFIH1 CL E G H6413518873ORPHA:51Aicardi-Goutières syndromeHP:0040283 - Occasional28
HP:0001337HP:0001337Tremor0IFRD1 CL E G H34755456ORPHA:98771Spinocerebellar ataxia type 181
HP:0001337HP:0001337Tremor0IL17RD CL E G H5475617616ORPHA:478Kallmann syndromeHP:0040283 - Occasional9
HP:0001337HP:0001337Tremor0IMPDH2 CL E G H36156053ORPHA:98808Autosomal dominant dopa-responsive dystonia1
HP:0001337HP:0001337Tremor0INPP5E CL E G H5662321474ORPHA:475Joubert syndromeHP:0040283 - Occasional111
HP:0001337HP:0001337Tremor0INPP5E CL E G H5662321474ORPHA:1454Joubert syndrome with hepatic defectHP:0040283 - Occasional111
HP:0001337HP:0001337Tremor0INPP5E CL E G H5662321474ORPHA:220493Joubert syndrome with ocular defectHP:0040283 - Occasional111
HP:0001337HP:0001337Tremor0ITM2B CL E G H94456174OMIM:176500Cerebral amyloid angiopathy, itm2b-related, 1.3
HP:0001337HP:0001337Tremor0ITM2B CL E G H94456174OMIM:117300Dementia, familial danish3
HP:0001337HP:0001337Tremor0ITPA CL E G H37046176OMIM:616647Epileptic encephalopathy, early infantile, 358
HP:0001337HP:0001337Tremor0ITPR1 CL E G H37086180OMIM:206700Gillespie syndrome177
HP:0001337HP:0001337Tremor0ITPR1 CL E G H37086180OMIM:606658Spinocerebellar ataxia 15177
HP:0001337HP:0001337Tremor0ITPR1 CL E G H37086180OMIM:117360Spinocerebellar ataxia 29177
HP:0001337HP:0001337Tremor0ITPR1 CL E G H37086180ORPHA:98769Spinocerebellar ataxia type 15/16177
HP:0001337HP:0001337Tremor0ITPR1 CL E G H37086180ORPHA:208513Spinocerebellar ataxia type 29177
HP:0001337HP:0001337Tremor0JAG1 CL E G H1826188OMIM:619574CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2HH; CMT2HH257
HP:0001337HP:0001337Tremor0JPH3 CL E G H5733814203OMIM:606438Huntington disease-like 22
HP:0001337HP:0001337Tremor0KATNIP CL E G H2324729068ORPHA:475Joubert syndromeHP:0040283 - Occasional
HP:0001337HP:0001337Tremor0KCNA1 CL E G H37366218ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional145
HP:0001337HP:0001337Tremor0KCNA1 CL E G H37366218OMIM:160120Episodic ataxia, type 1.145
HP:0001337HP:0001337Tremor0KCNA2 CL E G H37376220OMIM:616366Epileptic encephalopathy, early infantile, 32.13
HP:0001337HP:0001337Tremor0KCNA2 CL E G H37376220ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional13
HP:0001337HP:0001337Tremor0KCNB1 CL E G H37456231ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional65
HP:0001337HP:0001337Tremor0KCNC1 CL E G H37466233OMIM:616187Epilepsy, progressive myoclonic 7.6
HP:0001337HP:0001337Tremor0KCNC3 CL E G H37486235ORPHA:98768Spinocerebellar ataxia type 1317
HP:0001337HP:0001337Tremor0KCND3 CL E G H37526239OMIM:607346Spinocerebellar ataxia 1935
HP:0001337HP:0001337Tremor0KCNJ10 CL E G H37666256ORPHA:199343EAST syndrome121
HP:0001337HP:0001337Tremor0KCNJ10 CL E G H37666256OMIM:612780Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance121
HP:0001337HP:0001337Tremor0KCNJ18 CL E G H10013444439080ORPHA:79102Thyrotoxic periodic paralysisHP:0040282 - Frequent10
HP:0001337HP:0001337Tremor0KCNJ18 CL E G H10013444439080OMIM:613239Thyrotoxic periodic paralysis, susceptibility to, 210
HP:0001337HP:0001337Tremor0KCNK4 CL E G H508016279OMIM:618381Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome
HP:0001337HP:0001337Tremor0KCNN2 CL E G H37816291OMIM:619724DYSTONIA 34, MYOCLONIC; DYT34
HP:0001337HP:0001337Tremor0KCNN2 CL E G H37816291OMIM:619725NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE MOVEMENT OR BEHAVIORAL ABNORMALITIES; NEDMAB
HP:0001337HP:0001337Tremor0KIAA0586 CL E G H978619960ORPHA:475Joubert syndromeHP:0040283 - Occasional24
HP:0001337HP:0001337Tremor0KIAA0753 CL E G H985129110ORPHA:2754Orofaciodigital syndrome type 6HP:0040283 - Occasional4
HP:0001337HP:0001337Tremor0KIF1B CL E G H2309516636ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040283 - Occasional202
HP:0001337HP:0001337Tremor0KIF1C CL E G H107496317ORPHA:397946Autosomal spastic paraplegia type 58HP:0040282 - Frequent38
HP:0001337HP:0001337Tremor0KIF1C CL E G H107496317OMIM:611302Spastic ataxia 2, autosomal recessive.38
HP:0001337HP:0001337Tremor0KIF7 CL E G H37465430497ORPHA:2754Orofaciodigital syndrome type 6HP:0040283 - Occasional167
HP:0001337HP:0001337Tremor0KMT2B CL E G H975715840OMIM:617284Dystonia 28, childhood-onset11
HP:0001337HP:0001337Tremor0KNSTRN CL E G H9041730767ORPHA:221139Combined immunodeficiency with faciooculoskeletal anomalies1
HP:0001337HP:0001337Tremor0LAMA1 CL E G H2842176481ORPHA:370022Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome35
HP:0001337HP:0001337Tremor0LEMD2 CL E G H22149621244OMIM:619322MARBACH-RUSTAD PROGEROID SYNDROME; MARUPS1
HP:0001337HP:0001337Tremor0LEMD3 CL E G H2359228887ORPHA:9406312q14 microdeletion syndromeHP:0040282 - Frequent68
HP:0001337HP:0001337Tremor0LIMK1 CL E G H39846613ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0001337HP:0001337Tremor0LMAN2L CL E G H8156219263OMIM:6178631
HP:0001337HP:0001337Tremor0LMNB1 CL E G H40016637ORPHA:99027Adult-onset autosomal dominant leukodystrophyHP:0040282 - Frequent44
HP:0001337HP:0001337Tremor0LNPK CL E G H8085621610OMIM:618090Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum.
HP:0001337HP:0001337Tremor0LRP12 CL E G H2996731708OMIM:164310Oculopharyngodistal myopathy 1
HP:0001337HP:0001337Tremor0LRPPRC CL E G H1012815714OMIM:220111Leigh syndrome, french Canadian type.191
HP:0001337HP:0001337Tremor0LRRK2 CL E G H12089218618ORPHA:411602Hereditary late-onset Parkinson disease221
HP:0001337HP:0001337Tremor0LRRK2 CL E G H12089218618OMIM:607060Parkinson disease 8, autosomal dominant221
HP:0001337HP:0001337Tremor0LRRK2 CL E G H12089218618ORPHA:2828Young-onset Parkinson diseaseHP:0040282 - Frequent221
HP:0001337HP:0001337Tremor0LSM11 CL E G H13435330860ORPHA:51Aicardi-Goutières syndromeHP:0040283 - Occasional
HP:0001337HP:0001337Tremor0LYST CL E G H11301968ORPHA:167Chédiak-Higashi syndromeHP:0040283 - Occasional239
HP:0001337HP:0001337Tremor0LYST CL E G H11301968OMIM:214500Chediak-Higashi syndrome239
HP:0001337HP:0001337Tremor0MAG CL E G H40996783ORPHA:459056Autosomal recessive spastic paraplegia type 754
HP:0001337HP:0001337Tremor0MAN1B1 CL E G H112536823ORPHA:397941MAN1B1-CDG93
HP:0001337HP:0001337Tremor0MAOA CL E G H41286833OMIM:300615Brunner syndrome22
HP:0001337HP:0001337Tremor0MAPT CL E G H41376893ORPHA:240071Classic progressive supranuclear palsy syndromeHP:0040283 - Occasional140
HP:0001337HP:0001337Tremor0MAPT CL E G H41376893OMIM:168600Parkinson disease, late-onset.140
HP:0001337HP:0001337Tremor0MAPT CL E G H41376893ORPHA:240103Progressive supranuclear palsy-corticobasal syndromeHP:0040282 - Frequent140
HP:0001337HP:0001337Tremor0MAPT CL E G H41376893ORPHA:240085Progressive supranuclear palsy-parkinsonism syndromeHP:0040282 - Frequent140
HP:0001337HP:0001337Tremor0MAPT CL E G H41376893OMIM:260540Supranuclear palsy, progressive atypical.140
HP:0001337HP:0001337Tremor0MAPT CL E G H41376893OMIM:601104Supranuclear palsy, progressive, 1140
HP:0001337HP:0001337Tremor0MARCHF6 CL E G H1029930550ORPHA:86814Benign adult familial myoclonic epilepsy
HP:0001337HP:0001337Tremor0MARCHF6 CL E G H1029930550OMIM:613608Epilepsy, familial adult myoclonic, 3.
HP:0001337HP:0001337Tremor0MARS1 CL E G H41416898ORPHA:401835Autosomal recessive spastic paraplegia type 70
HP:0001337HP:0001337Tremor0MAX CL E G H41496913ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040283 - Occasional84
HP:0001337HP:0001337Tremor0MDH2 CL E G H41916971ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040283 - Occasional4
HP:0001337HP:0001337Tremor0MECP2 CL E G H42046990ORPHA:3095Atypical Rett syndromeHP:0040283 - Occasional950
HP:0001337HP:0001337Tremor0MECP2 CL E G H42046990OMIM:300055Mental retardation, X-linked, syndromic 13950
HP:0001337HP:0001337Tremor0MECP2 CL E G H42046990ORPHA:3077X-linked intellectual disability-psychosis-macroorchidism syndromeHP:0040282 - Frequent950
HP:0001337HP:0001337Tremor0MEN1 CL E G H42217010ORPHA:97279InsulinomaHP:0040281 - Very frequent462
HP:0001337HP:0001337Tremor0METTL27 CL E G H15536819068ORPHA:904Williams syndromeHP:0040281 - Very frequent1
HP:0001337HP:0001337Tremor0MFN2 CL E G H992716877ORPHA:99947Autosomal dominant Charcot-Marie-Tooth disease type 2A2203
HP:0001337HP:0001337Tremor0MFN2 CL E G H992716877OMIM:609260Charcot-marie-tooth disease, axonal, type 2A2AHP:0040283 - Occasional203
HP:0001337HP:0001337Tremor0MICU1 CL E G H103671530OMIM:615673Myopathy with extrapyramidal signs14
HP:0001337HP:0001337Tremor0MICU1 CL E G H103671530ORPHA:401768Proximal myopathy with extrapyramidal signs14
HP:0001337HP:0001337Tremor0MKS1 CL E G H549037121ORPHA:475Joubert syndromeHP:0040283 - Occasional127
HP:0001337HP:0001337Tremor0MKS1 CL E G H549037121ORPHA:220493Joubert syndrome with ocular defectHP:0040283 - Occasional127
HP:0001337HP:0001337Tremor0MLXIPL CL E G H5108512744ORPHA:904Williams syndromeHP:0040281 - Very frequent1
HP:0001337HP:0001337Tremor0MMAA CL E G H16678518871OMIM:251100Methylmalonic aciduria, Cbla type.113
HP:0001337HP:0001337Tremor0MMACHC CL E G H2597424525OMIM:277400Methylmalonic aciduria and homocystinuria, Cblc type.101
HP:0001337HP:0001337Tremor0MME CL E G H43117154OMIM:617018SPINOCEREBELLAR ATAXIA 43; SCA4318
HP:0001337HP:0001337Tremor0MORC2 CL E G H2288023573ORPHA:466768Autosomal dominant Charcot-Marie-Tooth disease type 2ZHP:0040282 - Frequent8
HP:0001337HP:0001337Tremor0MPLKIP CL E G H13664716002ORPHA:33364Trichothiodystrophy9
HP:0001337HP:0001337Tremor0MPZ CL E G H43597225ORPHA:3115Roussy-Lévy syndrome134
HP:0001337HP:0001337Tremor0MPZ CL E G H43597225OMIM:180800Roussy-Levy hereditary areflexic dystasia134
HP:0001337HP:0001337Tremor0MRE11 CL E G H43617230ORPHA:251347Ataxia-telangiectasia-like disorder532
HP:0001337HP:0001337Tremor0MRPL12 CL E G H618210378OMIM:618951COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 45; COXPD4511
HP:0001337HP:0001337Tremor0MRPS34 CL E G H6599316618OMIM:617664Combined oxidative phosphorylation deficiency 321
HP:0001337HP:0001337Tremor0MSTO1 CL E G H5515429678ORPHA:502423Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndromeHP:0040282 - Frequent
HP:0001337HP:0001337Tremor0MSTO1 CL E G H5515429678OMIM:617675Myopathy, mitochondrial, and ataxia.
HP:0001337HP:0001337Tremor0MTFMT CL E G H12326329666OMIM:614947Combined oxidative phosphorylation deficiency 15HP:0040283 - Occasional29
HP:0001337HP:0001337Tremor0MYBPC1 CL E G H46047549OMIM:618524MYOPATHY, CONGENITAL, WITH TREMOR; MYOTREM66
HP:0001337HP:0001337Tremor0MYH14 CL E G H7978423212OMIM:614369Peripheral neuropathy, myopathy, hoarseness, and hearing loss.227
HP:0001337HP:0001337Tremor0MYH14 CL E G H7978423212ORPHA:397744Peripheral neuropathy-myopathy-hoarseness-hearing loss syndromeHP:0040283 - Occasional227
HP:0001337HP:0001337Tremor0MYL2 CL E G H46337583OMIM:619424MYOPATHY, MYOFIBRILLAR, 12, INFANTILE-ONSET, WITH CARDIOMYOPATHY; MFM12131
HP:0001337HP:0001337Tremor0MYO5A CL E G H46447602ORPHA:33445Neuroectodermal melanolysosomal diseaseHP:0040282 - Frequent35
HP:0001337HP:0001337Tremor0MYOT CL E G H949912399OMIM:182920Myopathy, spheroid body.75
HP:0001337HP:0001337Tremor0NARS1 CL E G H46777643OMIM:619092NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, EPILEPSY, AND GAIT ABNORMALITIES; NEDMILEG
HP:0001337HP:0001337Tremor0NAXE CL E G H12824018453OMIM:617186Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1.9
HP:0001337HP:0001337Tremor0NCF1 CL E G H6533617660ORPHA:904Williams syndromeHP:0040281 - Very frequent13
HP:0001337HP:0001337Tremor0ND1 CL E G H45357455ORPHA:104Leber hereditary optic neuropathy
HP:0001337HP:0001337Tremor0ND1 CL E G H45357455OMIM:535000Leber optic atrophy
HP:0001337HP:0001337Tremor0ND2 CL E G H45367456ORPHA:104Leber hereditary optic neuropathy
HP:0001337HP:0001337Tremor0ND2 CL E G H45367456OMIM:535000Leber optic atrophy
HP:0001337HP:0001337Tremor0ND4 CL E G H45387459ORPHA:104Leber hereditary optic neuropathy
HP:0001337HP:0001337Tremor0ND4 CL E G H45387459OMIM:535000Leber optic atrophy
HP:0001337HP:0001337Tremor0ND4L CL E G H45397460ORPHA:104Leber hereditary optic neuropathy
HP:0001337HP:0001337Tremor0ND4L CL E G H45397460OMIM:535000Leber optic atrophy
HP:0001337HP:0001337Tremor0ND5 CL E G H45407461ORPHA:104Leber hereditary optic neuropathy
HP:0001337HP:0001337Tremor0ND5 CL E G H45407461OMIM:535000Leber optic atrophy
HP:0001337HP:0001337Tremor0ND6 CL E G H45417462ORPHA:104Leber hereditary optic neuropathy
HP:0001337HP:0001337Tremor0ND6 CL E G H45417462OMIM:535000Leber optic atrophy
HP:0001337HP:0001337Tremor0NDNF CL E G H7962526256ORPHA:478Kallmann syndromeHP:0040283 - Occasional
HP:0001337HP:0001337Tremor0NDRG1 CL E G H103977679ORPHA:99950Charcot-Marie-Tooth disease type 4D82
HP:0001337HP:0001337Tremor0NDUFS2 CL E G H47207708ORPHA:104Leber hereditary optic neuropathy65
HP:0001337HP:0001337Tremor0NECAP1 CL E G H2597724539ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional1
HP:0001337HP:0001337Tremor0NEFL CL E G H47477739ORPHA:101085Charcot-Marie-Tooth disease type 1F118
HP:0001337HP:0001337Tremor0NEFL CL E G H47477739OMIM:607734Charcot-Marie-Tooth disease, demyelinating, type 1F118
HP:0001337HP:0001337Tremor0NEMF CL E G H914710663OMIM:619099INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY AND AXONAL PERIPHERAL NEUROPATHY; IDDSAPN1
HP:0001337HP:0001337Tremor0NEU1 CL E G H47587758ORPHA:812Sialidosis type 1HP:0040282 - Frequent43
HP:0001337HP:0001337Tremor0NEUROD2 CL E G H47617763ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional
HP:0001337HP:0001337Tremor0NEXMIF CL E G H34053329433ORPHA:1942Myoclonic-astatic epilepsyHP:0040283 - Occasional52
HP:0001337HP:0001337Tremor0NF1 CL E G H47637765ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040283 - Occasional1952
HP:0001337HP:0001337Tremor0NFASC CL E G H2311429866OMIM:618356Neurodevelopmental disorder with central and peripheral motor dysfunction
HP:0001337HP:0001337Tremor0NFE2L2 CL E G H47807782OMIM:617744Immunodeficiency, developmental delay, and hypohomocysteinemia20
HP:0001337HP:0001337Tremor0NGLY1 CL E G H5576817646ORPHA:404454Alacrimia-choreoathetosis-liver dysfunction syndrome32
HP:0001337HP:0001337Tremor0NGLY1 CL E G H5576817646OMIM:615273Congenital disorder of deglycosylation32
HP:0001337HP:0001337Tremor0NIPA1 CL E G H12360617043ORPHA:100988Autosomal dominant spastic paraplegia type 6117
HP:0001337HP:0001337Tremor0NIPA1 CL E G H12360617043OMIM:600363Spastic paraplegia 6, autosomal dominantHP:0040283 - Occasional117
HP:0001337HP:0001337Tremor0NKX2-1 CL E G H708011825ORPHA:209905Brain-lung-thyroid syndrome51
HP:0001337HP:0001337Tremor0NKX6-2 CL E G H8450419321ORPHA:527497NKX6-2-related autosomal recessive hypomyelinating leukodystrophy2
HP:0001337HP:0001337Tremor0NKX6-2 CL E G H8450419321OMIM:617560Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy2
HP:0001337HP:0001337Tremor0NONO CL E G H48417871ORPHA:466791Macrocephaly-intellectual disability-left ventricular non compaction syndrome10
HP:0001337HP:0001337Tremor0NONO CL E G H48417871OMIM:300967MENTAL RETARDATION, X-LINKED, SYNDROMIC 34; MRXS3410
HP:0001337HP:0001337Tremor0NOP56 CL E G H1052815911ORPHA:276198Spinocerebellar ataxia type 369
HP:0001337HP:0001337Tremor0NOTCH2NLC CL E G H10099671753924OMIM:603472NEURONAL INTRANUCLEAR INCLUSION DISEASE
HP:0001337HP:0001337Tremor0NOTCH2NLC CL E G H10099671753924OMIM:619473OCULOPHARYNGODISTAL MYOPATHY 3; OPDM3
HP:0001337HP:0001337Tremor0NOTCH2NLC CL E G H10099671753924OMIM:618866TREMOR, HEREDITARY ESSENTIAL, 6; ETM6
HP:0001337HP:0001337Tremor0NPHP1 CL E G H48677905ORPHA:220497Joubert syndrome with renal defectHP:0040283 - Occasional85
HP:0001337HP:0001337Tremor0NR1H4 CL E G H99717967ORPHA:69665Intrahepatic cholestasis of pregnancyHP:0040284 - Very rare14
HP:0001337HP:0001337Tremor0NR4A2 CL E G H49297981OMIM:61991127
HP:0001337HP:0001337Tremor0NR4A2 CL E G H49297981ORPHA:98808Autosomal dominant dopa-responsive dystonia27
HP:0001337HP:0001337Tremor0NR4A2 CL E G H49297981OMIM:168600Parkinson disease, late-onset.27
HP:0001337HP:0001337Tremor0NSD1 CL E G H6432414234ORPHA:821Sotos syndromeHP:0040283 - Occasional544
HP:0001337HP:0001337Tremor0NTNG1 CL E G H2285423319ORPHA:3095Atypical Rett syndromeHP:0040283 - Occasional1
HP:0001337HP:0001337Tremor0NTNG2 CL E G H8462814288OMIM:618718NEURODEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES, ABSENT SPEECH, AND HYPOTONIA; NEDBASH
HP:0001337HP:0001337Tremor0NTRK2 CL E G H49158032ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional8
HP:0001337HP:0001337Tremor0NUS1 CL E G H11615021042OMIM:617831MENTAL RETARDATION, AUTOSOMAL DOMINANT 55, WITH SEIZURES; MRD551
HP:0001337HP:0001337Tremor0NUS1 CL E G H11615021042ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional1
HP:0001337HP:0001337Tremor0NUTM2B-AS1 CL E G H10106069151204OMIM:618637OCULOPHARYNGEAL MYOPATHY WITH LEUKOENCEPHALOPATHY 1; OPML1
HP:0001337HP:0001337Tremor0OCA2 CL E G H49488101ORPHA:98794Angelman syndrome due to maternal 15q11q13 deletionHP:0040283 - Occasional121
HP:0001337HP:0001337Tremor0OFD1 CL E G H84812567ORPHA:2750Orofaciodigital syndrome type 1HP:0040283 - Occasional201
HP:0001337HP:0001337Tremor0OFD1 CL E G H84812567ORPHA:2754Orofaciodigital syndrome type 6HP:0040283 - Occasional201
HP:0001337HP:0001337Tremor0OPA1 CL E G H49768140OMIM:210000Behr syndrome.214
HP:0001337HP:0001337Tremor0OPA3 CL E G H802078142ORPHA:67036Autosomal dominant optic atrophy and cataract163
HP:0001337HP:0001337Tremor0OPA3 CL E G H802078142OMIM:165300OPTIC ATROPHY 3, AUTOSOMAL DOMINANT; OPA3163
HP:0001337HP:0001337Tremor0OPHN1 CL E G H49838148ORPHA:137831X-linked intellectual disability-cerebellar hypoplasia syndrome55
HP:0001337HP:0001337Tremor0OXR1 CL E G H5507415822OMIM:213000Cerebellar hypoplasia.1
HP:0001337HP:0001337Tremor0PAH CL E G H50538582ORPHA:79254Classic phenylketonuriaHP:0040282 - Frequent641
HP:0001337HP:0001337Tremor0PANK2 CL E G H8002515894ORPHA:216873Atypical pantothenate kinase-associated neurodegenerationHP:0040283 - Occasional55
HP:0001337HP:0001337Tremor0PANK2 CL E G H8002515894OMIM:234200Neurodegeneration with brain iron accumulation 1.55
HP:0001337HP:0001337Tremor0PARK7 CL E G H1131516369OMIM:606324PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET; PARK723
HP:0001337HP:0001337Tremor0PARK7 CL E G H1131516369ORPHA:2828Young-onset Parkinson diseaseHP:0040282 - Frequent23
HP:0001337HP:0001337Tremor0PARS2 CL E G H2597330563ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional14
HP:0001337HP:0001337Tremor0PCBD1 CL E G H50928646OMIM:264070Hyperphenylalaninemia, BH4-deficient, D.24
HP:0001337HP:0001337Tremor0PCBD1 CL E G H50928646ORPHA:1578Pterin-4 alpha-carbinolamine dehydratase deficiencyHP:0040283 - Occasional24
HP:0001337HP:0001337Tremor0PCDH19 CL E G H5752614270ORPHA:33069Dravet syndrome225
HP:0001337HP:0001337Tremor0PDE10A CL E G H108468772OMIM:616921Dyskinesia, limb and orofacial, infantile-onsetHP:0040283 - Occasional5
HP:0001337HP:0001337Tremor0PDE10A CL E G H108468772ORPHA:494526Infantile-onset generalized dyskinesia with orofacial involvementHP:0040283 - Occasional5
HP:0001337HP:0001337Tremor0PDE6D CL E G H51478788ORPHA:2754Orofaciodigital syndrome type 6HP:0040283 - Occasional1
HP:0001337HP:0001337Tremor0PDGFB CL E G H51558800OMIM:213600Basal ganglia calcification, idiopathic, 1.9
HP:0001337HP:0001337Tremor0PDGFRB CL E G H51598804OMIM:213600Basal ganglia calcification, idiopathic, 1.28
HP:0001337HP:0001337Tremor0PDHA1 CL E G H51608806OMIM:312170Pyruvate dehydrogenase e1-alpha deficiency88
HP:0001337HP:0001337Tremor0PDK3 CL E G H51658811OMIM:300905Charcot-Marie-Tooth disease, X-linked dominant, 64
HP:0001337HP:0001337Tremor0PDK3 CL E G H51658811ORPHA:352675X-linked Charcot-Marie-Tooth disease type 64
HP:0001337HP:0001337Tremor0PDYN CL E G H51738820OMIM:610245Spinocerebellar ataxia 23HP:0040283 - Occasional52
HP:0001337HP:0001337Tremor0PEX10 CL E G H51928851OMIM:614871Peroxisome biogenesis disorder 6B75
HP:0001337HP:0001337Tremor0PEX16 CL E G H94098857OMIM:614877Peroxisome biogenesis disorder 8B59
HP:0001337HP:0001337Tremor0PEX2 CL E G H58289717OMIM:614867Peroxisome biogenesis disorder 5B.82
HP:0001337HP:0001337Tremor0PEX6 CL E G H51908859ORPHA:95433Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome98
HP:0001337HP:0001337Tremor0PGAP1 CL E G H8005525712ORPHA:401820Autosomal recessive spastic paraplegia type 6720
HP:0001337HP:0001337Tremor0PGK1 CL E G H52308896ORPHA:713Glycogen storage disease due to phosphoglycerate kinase 1 deficiencyHP:0040282 - Frequent21
HP:0001337HP:0001337Tremor0PHIP CL E G H5502315673ORPHA:589905PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome11
HP:0001337HP:0001337Tremor0PI4KA CL E G H52978983OMIM:619708GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 2; GIDID211
HP:0001337HP:0001337Tremor0PIBF1 CL E G H1046423352ORPHA:475Joubert syndromeHP:0040283 - Occasional4
HP:0001337HP:0001337Tremor0PIGA CL E G H52778957OMIM:301072NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS; NEDEPH46
HP:0001337HP:0001337Tremor0PIGN CL E G H235568967ORPHA:280633Multiple congenital anomalies-hypotonia-seizures syndromeHP:0040282 - Frequent37
HP:0001337HP:0001337Tremor0PIGN CL E G H235568967OMIM:614080Multiple congenital anomalies-hypotonia-seizures syndrome 1.37
HP:0001337HP:0001337Tremor0PIGP CL E G H512273046ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional2
HP:0001337HP:0001337Tremor0PIGQ CL E G H909114135ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional3
HP:0001337HP:0001337Tremor0PIK3CA CL E G H52908975OMIM:615108Cowden syndrome 5162
HP:0001337HP:0001337Tremor0PIK3CD CL E G H52938977ORPHA:221139Combined immunodeficiency with faciooculoskeletal anomalies9
HP:0001337HP:0001337Tremor0PIK3R5 CL E G H2353330035ORPHA:64753Spinocerebellar ataxia with axonal neuropathy type 211
HP:0001337HP:0001337Tremor0PINK1 CL E G H6501814581OMIM:605909Parkinson disease 6, autosomal recessive early-onset55
HP:0001337HP:0001337Tremor0PINK1 CL E G H6501814581ORPHA:2828Young-onset Parkinson diseaseHP:0040282 - Frequent55
HP:0001337HP:0001337Tremor0PITRM1 CL E G H1053117663OMIM:619405SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 30; SCAR301
HP:0001337HP:0001337Tremor0PLA2G6 CL E G H83989039ORPHA:199351Adult-onset dystonia-parkinsonismHP:0040282 - Frequent133
HP:0001337HP:0001337Tremor0PLA2G6 CL E G H83989039OMIM:610217Neurodegeneration with brain iron accumulation 2B133
HP:0001337HP:0001337Tremor0PLA2G6 CL E G H83989039OMIM:612953Parkinson disease 14, autosomal recessive.133
HP:0001337HP:0001337Tremor0PLP1 CL E G H53549086OMIM:312080Pelizaeus-Merzbacher disease.60
HP:0001337HP:0001337Tremor0PLP1 CL E G H53549086ORPHA:280219Pelizaeus-Merzbacher disease, classic form60
HP:0001337HP:0001337Tremor0PLP1 CL E G H53549086ORPHA:280210Pelizaeus-Merzbacher disease, connatal form60
HP:0001337HP:0001337Tremor0PMM2 CL E G H53739115OMIM:212065Congenital disorder of glycosylation, type Ia150
HP:0001337HP:0001337Tremor0PMP2 CL E G H53759117OMIM:618279Charcot-Marie-Tooth disease, demyelinating, type 1G1
HP:0001337HP:0001337Tremor0PMP22 CL E G H53769118ORPHA:3115Roussy-Lévy syndrome79
HP:0001337HP:0001337Tremor0PMP22 CL E G H53769118OMIM:180800Roussy-Levy hereditary areflexic dystasia79
HP:0001337HP:0001337Tremor0PMPCA CL E G H2320318667ORPHA:1170Autosomal recessive cerebelloparenchymal disorder type 3HP:0040283 - Occasional7
HP:0001337HP:0001337Tremor0PMPCA CL E G H2320318667OMIM:213200Spinocerebellar ataxia, autosomal recessive 2.7
HP:0001337HP:0001337Tremor0PNKP CL E G H112849154ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional244
HP:0001337HP:0001337Tremor0PNP CL E G H48607892OMIM:613179Immunodeficiency due to purine nucleoside phosphorylase deficiency.52
HP:0001337HP:0001337Tremor0PNPLA6 CL E G H1090816268OMIM:215470Boucher-Neuhauser syndrome103
HP:0001337HP:0001337Tremor0PODXL CL E G H54209171ORPHA:391411Atypical juvenile parkinsonism6
HP:0001337HP:0001337Tremor0PODXL CL E G H54209171ORPHA:2828Young-onset Parkinson diseaseHP:0040282 - Frequent6
HP:0001337HP:0001337Tremor0POLG CL E G H54289179ORPHA:254892Autosomal dominant progressive external ophthalmoplegiaHP:0040283 - Occasional464
HP:0001337HP:0001337Tremor0POLG CL E G H54289179ORPHA:254886Autosomal recessive progressive external ophthalmoplegia464
HP:0001337HP:0001337Tremor0POLG CL E G H54289179OMIM:157640Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1464
HP:0001337HP:0001337Tremor0POLG CL E G H54289179OMIM:258450Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive464
HP:0001337HP:0001337Tremor0POLG2 CL E G H112329180ORPHA:254892Autosomal dominant progressive external ophthalmoplegiaHP:0040283 - Occasional45
HP:0001337HP:0001337Tremor0POLR1C CL E G H953320194OMIM:616494Leukodystrophy, hypomyelinating, 1138
HP:0001337HP:0001337Tremor0POLR3A CL E G H1112830074OMIM:607694Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism138
HP:0001337HP:0001337Tremor0POLR3A CL E G H1112830074ORPHA:447896Tremor-ataxia-central hypomyelination syndrome138
HP:0001337HP:0001337Tremor0POLR3A CL E G H1112830074ORPHA:3455Wiedemann-Rautenstrauch syndromeHP:0040283 - Occasional138
HP:0001337HP:0001337Tremor0POLR3A CL E G H1112830074OMIM:264090Wiedemann-Rautenstrauch syndrome138
HP:0001337HP:0001337Tremor0POLR3B CL E G H5570330348OMIM:607694Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism67
HP:0001337HP:0001337Tremor0POLR3B CL E G H5570330348OMIM:614381Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism67
HP:0001337HP:0001337Tremor0POU4F1 CL E G H54579218OMIM:619352ATAXIA, INTENTION TREMOR, AND HYPOTONIA SYNDROME, CHILDHOOD-ONSET; ATITHS
HP:0001337HP:0001337Tremor0POU4F1 CL E G H54579218ORPHA:314647Non-progressive cerebellar ataxia with intellectual disability
HP:0001337HP:0001337Tremor0PPP1R15B CL E G H8491914951OMIM:616817Microcephaly, short stature, and impaired glucose metabolism 22
HP:0001337HP:0001337Tremor0PPP2R2B CL E G H55219305OMIM:604326Spinocerebellar ataxia 125
HP:0001337HP:0001337Tremor0PPP2R2B CL E G H55219305ORPHA:98762Spinocerebellar ataxia type 125
HP:0001337HP:0001337Tremor0PPP3CA CL E G H55309314ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional2
HP:0001337HP:0001337Tremor0PRDX1 CL E G H50529352OMIM:277400Methylmalonic aciduria and homocystinuria, Cblc type.
HP:0001337HP:0001337Tremor0PRDX3 CL E G H109359354OMIM:619862
HP:0001337HP:0001337Tremor0PRICKLE1 CL E G H14416517019OMIM:612437Epilepsy, progressive myoclonic 1B.133
HP:0001337HP:0001337Tremor0PRICKLE1 CL E G H14416517019ORPHA:308Progressive myoclonic epilepsy type 1133
HP:0001337HP:0001337Tremor0PRKAR1B CL E G H55759390OMIM:619680MARBACH-SCHAAF NEURODEVELOPMENTAL SYNDROME; MASNS2
HP:0001337HP:0001337Tremor0PRKCG CL E G H55829402ORPHA:98763Spinocerebellar ataxia type 14HP:0040283 - Occasional83
HP:0001337HP:0001337Tremor0PRKN CL E G H50718607OMIM:600116Parkinson disease, juvenile, type 2138
HP:0001337HP:0001337Tremor0PRKN CL E G H50718607ORPHA:2828Young-onset Parkinson diseaseHP:0040282 - Frequent138
HP:0001337HP:0001337Tremor0PRKRA CL E G H85759438ORPHA:210571Dystonia 1637
HP:0001337HP:0001337Tremor0PRKRA CL E G H85759438OMIM:612067Dystonia 1637
HP:0001337HP:0001337Tremor0PRNP CL E G H56219449OMIM:137440Gerstmann-Straussler disease.69
HP:0001337HP:0001337Tremor0PRNP CL E G H56219449ORPHA:282166Inherited Creutzfeldt-Jakob diseaseHP:0040282 - Frequent69
HP:0001337HP:0001337Tremor0PROK2 CL E G H6067518455ORPHA:478Kallmann syndromeHP:0040283 - Occasional9
HP:0001337HP:0001337Tremor0PROKR2 CL E G H12867415836ORPHA:478Kallmann syndromeHP:0040283 - Occasional34
HP:0001337HP:0001337Tremor0PRORP CL E G H969219958OMIM:619737COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 54; COXPD54
HP:0001337HP:0001337Tremor0PRPS1 CL E G H56319462ORPHA:99014X-linked Charcot-Marie-Tooth disease type 5HP:0040283 - Occasional49
HP:0001337HP:0001337Tremor0PSAP CL E G H56609498OMIM:610539Gaucher disease, atypical81
HP:0001337HP:0001337Tremor0PSAP CL E G H56609498ORPHA:309271Metachromatic leukodystrophy, adult form81
HP:0001337HP:0001337Tremor0PSAP CL E G H56609498ORPHA:309263Metachromatic leukodystrophy, juvenile form81
HP:0001337HP:0001337Tremor0PSAP CL E G H56609498OMIM:619491PARKINSON DISEASE 24, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO; PARK2481
HP:0001337HP:0001337Tremor0PTEN CL E G H57289588OMIM:158350Cowden syndrome 1948
HP:0001337HP:0001337Tremor0PTS CL E G H58059689OMIM:261640Hyperphenylalaninemia, BH4-deficient, A.19
HP:0001337HP:0001337Tremor0PUS7 CL E G H5451726033OMIM:618342Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature
HP:0001337HP:0001337Tremor0QDPR CL E G H58609752OMIM:261630Hyperphenylalaninemia, bh4-deficient, C.43
HP:0001337HP:0001337Tremor0QRICH1 CL E G H5487024713OMIM:617982VERVERI-BRADY SYNDROME; VERBRAS
HP:0001337HP:0001337Tremor0RAB39B CL E G H11644216499OMIM:311510Waisman syndrome34
HP:0001337HP:0001337Tremor0RAB3GAP2 CL E G H2578217168ORPHA:401830Autosomal recessive spastic paraplegia type 69135
HP:0001337HP:0001337Tremor0RARS1 CL E G H59179870OMIM:616140Leukodystrophy, hypomyelinating, 9
HP:0001337HP:0001337Tremor0RARS1 CL E G H59179870ORPHA:438114RARS-related autosomal recessive hypomyelinating leukodystrophy
HP:0001337HP:0001337Tremor0REEP2 CL E G H5130817975ORPHA:401849Autosomal spastic paraplegia type 723
HP:0001337HP:0001337Tremor0RET CL E G H59799967ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040283 - Occasional572
HP:0001337HP:0001337Tremor0RET CL E G H59799967ORPHA:276621Sporadic pheochromocytoma/secreting paragangliomaHP:0040283 - Occasional572
HP:0001337HP:0001337Tremor0RFC1 CL E G H59819969ORPHA:504476Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome
HP:0001337HP:0001337Tremor0RFC2 CL E G H59829970ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0001337HP:0001337Tremor0RILPL1 CL E G H35311626814OMIM:619790OCULOPHARYNGODISTAL MYOPATHY 4; OPDM4
HP:0001337HP:0001337Tremor0RLIM CL E G H5113213429OMIM:300978Tonne-Kalscheuer syndrome.7
HP:0001337HP:0001337Tremor0RNASEH2A CL E G H1053518518ORPHA:51Aicardi-Goutières syndromeHP:0040283 - Occasional33
HP:0001337HP:0001337Tremor0RNASEH2B CL E G H7962125671ORPHA:51Aicardi-Goutières syndromeHP:0040283 - Occasional34
HP:0001337HP:0001337Tremor0RNASEH2C CL E G H8415324116ORPHA:51Aicardi-Goutières syndromeHP:0040283 - Occasional60
HP:0001337HP:0001337Tremor0RNF113A CL E G H773712974ORPHA:33364Trichothiodystrophy3
HP:0001337HP:0001337Tremor0RNU12 CL E G H26701019380ORPHA:512260Congenital cerebellar ataxia due to RNU12 mutation
HP:0001337HP:0001337Tremor0RNU7-1 CL E G H10014774434033ORPHA:51Aicardi-Goutières syndromeHP:0040283 - Occasional
HP:0001337HP:0001337Tremor0RORA CL E G H609510258OMIM:618060INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT EPILEPSY OR CEREBELLAR ATAXIA; IDDECA1
HP:0001337HP:0001337Tremor0RPGRIP1L CL E G H2332229168ORPHA:1454Joubert syndrome with hepatic defectHP:0040283 - Occasional167
HP:0001337HP:0001337Tremor0RPGRIP1L CL E G H2332229168ORPHA:220497Joubert syndrome with renal defectHP:0040283 - Occasional167
HP:0001337HP:0001337Tremor0RPL10 CL E G H613410298OMIM:300998MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS3510
HP:0001337HP:0001337Tremor0RRM2B CL E G H5048417296ORPHA:254892Autosomal dominant progressive external ophthalmoplegiaHP:0040283 - Occasional125
HP:0001337HP:0001337Tremor0SACS CL E G H2627810519ORPHA:98Autosomal recessive spastic ataxia of Charlevoix-Saguenay309
HP:0001337HP:0001337Tremor0SAMD12 CL E G H40147431750ORPHA:86814Benign adult familial myoclonic epilepsy2
HP:0001337HP:0001337Tremor0SAMD12 CL E G H40147431750OMIM:601068Epilepsy, familial adult myoclonic, 12
HP:0001337HP:0001337Tremor0SAMHD1 CL E G H2593915925ORPHA:51Aicardi-Goutières syndromeHP:0040283 - Occasional55
HP:0001337HP:0001337Tremor0SATB1 CL E G H630410541OMIM:619229KOHLSCHUTTER-TONZ SYNDROME-LIKE; KTZSL
HP:0001337HP:0001337Tremor0SBF2 CL E G H818462135ORPHA:99956Charcot-Marie-Tooth disease type 4B2180
HP:0001337HP:0001337Tremor0SCARB2 CL E G H9501665OMIM:254900Epilepsy, progressive myoclonic, 4, with or without renal failure77
HP:0001337HP:0001337Tremor0SCARB2 CL E G H9501665ORPHA:308Progressive myoclonic epilepsy type 177
HP:0001337HP:0001337Tremor0SCN1A CL E G H632310585ORPHA:33069Dravet syndrome1053
HP:0001337HP:0001337Tremor0SCN1A CL E G H632310585ORPHA:36387Generalized epilepsy with febrile seizures-plusHP:0040284 - Very rare1053
HP:0001337HP:0001337Tremor0SCN1A CL E G H632310585ORPHA:1942Myoclonic-astatic epilepsyHP:0040283 - Occasional1053
HP:0001337HP:0001337Tremor0SCN1B CL E G H632410586ORPHA:33069Dravet syndrome126
HP:0001337HP:0001337Tremor0SCN1B CL E G H632410586ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional126
HP:0001337HP:0001337Tremor0SCN1B CL E G H632410586ORPHA:36387Generalized epilepsy with febrile seizures-plusHP:0040284 - Very rare126
HP:0001337HP:0001337Tremor0SCN2A CL E G H632610588ORPHA:33069Dravet syndrome427
HP:0001337HP:0001337Tremor0SCN2A CL E G H632610588ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional427
HP:0001337HP:0001337Tremor0SCN2A CL E G H632610588ORPHA:36387Generalized epilepsy with febrile seizures-plusHP:0040284 - Very rare427
HP:0001337HP:0001337Tremor0SCN3A CL E G H632810590ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional70
HP:0001337HP:0001337Tremor0SCN8A CL E G H633410596ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional357
HP:0001337HP:0001337Tremor0SCN9A CL E G H633510597ORPHA:33069Dravet syndrome318
HP:0001337HP:0001337Tremor0SCN9A CL E G H633510597ORPHA:36387Generalized epilepsy with febrile seizures-plusHP:0040284 - Very rare318
HP:0001337HP:0001337Tremor0SCP2 CL E G H634210606OMIM:613724Leukoencephalopathy with dystonia and motor neuropathy4
HP:0001337HP:0001337Tremor0SCYL1 CL E G H5741014372ORPHA:466794Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome5
HP:0001337HP:0001337Tremor0SCYL1 CL E G H5741014372OMIM:616719Spinocerebellar ataxia, autosomal recessive 21.5
HP:0001337HP:0001337Tremor0SDHA CL E G H638910680ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040283 - Occasional304
HP:0001337HP:0001337Tremor0SDHAF2 CL E G H5494926034ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040283 - Occasional55
HP:0001337HP:0001337Tremor0SDHB CL E G H639010681ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040283 - Occasional237
HP:0001337HP:0001337Tremor0SDHB CL E G H639010681ORPHA:276621Sporadic pheochromocytoma/secreting paragangliomaHP:0040283 - Occasional237
HP:0001337HP:0001337Tremor0SDHC CL E G H639110682ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040283 - Occasional147
HP:0001337HP:0001337Tremor0SDHD CL E G H639210683ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040283 - Occasional129
HP:0001337HP:0001337Tremor0SDHD CL E G H639210683ORPHA:276621Sporadic pheochromocytoma/secreting paragangliomaHP:0040283 - Occasional129
HP:0001337HP:0001337Tremor0SEMA3A CL E G H1037110723ORPHA:478Kallmann syndromeHP:0040283 - Occasional14
HP:0001337HP:0001337Tremor0SEMA6B CL E G H1050110739OMIM:618876EPILEPSY, PROGRESSIVE MYOCLONIC, 11; EPM11
HP:0001337HP:0001337Tremor0SETD2 CL E G H2907218420ORPHA:821Sotos syndromeHP:0040283 - Occasional60
HP:0001337HP:0001337Tremor0SETX CL E G H23064445ORPHA:64753Spinocerebellar ataxia with axonal neuropathy type 2162
HP:0001337HP:0001337Tremor0SETX CL E G H23064445OMIM:606002Spinocerebellar ataxia, autosomal recessive 1162
HP:0001337HP:0001337Tremor0SFXN4 CL E G H11955916088OMIM:615578Combined oxidative phosphorylation deficiency 18.17
HP:0001337HP:0001337Tremor0SGCE CL E G H891010808OMIM:159900Dystonia 11, myoclonic.49
HP:0001337HP:0001337Tremor0SH3TC2 CL E G H7962829427ORPHA:99949Charcot-Marie-Tooth disease type 4C493
HP:0001337HP:0001337Tremor0SIGMAR1 CL E G H102808157ORPHA:300605Juvenile amyotrophic lateral sclerosis6
HP:0001337HP:0001337Tremor0SIK1 CL E G H15009411142ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional11
HP:0001337HP:0001337Tremor0SLC12A6 CL E G H999010914OMIM:218000Agenesis of the corpus callosum with peripheral neuropathy.163
HP:0001337HP:0001337Tremor0SLC13A5 CL E G H28411123089ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional73
HP:0001337HP:0001337Tremor0SLC18A2 CL E G H657110935ORPHA:352649Brain dopamine-serotonin vesicular transport diseaseHP:0040281 - Very frequent2
HP:0001337HP:0001337Tremor0SLC18A2 CL E G H657110935OMIM:618049Parkinsonism-Dystonia, infantile, 2.2
HP:0001337HP:0001337Tremor0SLC19A3 CL E G H8070416266OMIM:607483Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2)110
HP:0001337HP:0001337Tremor0SLC1A2 CL E G H650610940ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional3
HP:0001337HP:0001337Tremor0SLC1A3 CL E G H650710941ORPHA:2131Alternating hemiplegia of childhoodHP:0040283 - Occasional63
HP:0001337HP:0001337Tremor0SLC20A2 CL E G H657510947OMIM:213600Basal ganglia calcification, idiopathic, 1.70
HP:0001337HP:0001337Tremor0SLC25A11 CL E G H840210981ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040283 - Occasional
HP:0001337HP:0001337Tremor0SLC25A13 CL E G H1016510983ORPHA:247585Citrullinemia type IIHP:0040282 - Frequent82
HP:0001337HP:0001337Tremor0SLC25A22 CL E G H7975119954ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional166
HP:0001337HP:0001337Tremor0SLC25A4 CL E G H29110990ORPHA:254892Autosomal dominant progressive external ophthalmoplegiaHP:0040283 - Occasional68
HP:0001337HP:0001337Tremor0SLC25A46 CL E G H9113725198OMIM:616505Neuropathy, hereditary motor and sensory, type VIB.14
HP:0001337HP:0001337Tremor0SLC2A1 CL E G H651311005OMIM:612126Glut1 deficiency syndrome 2.255
HP:0001337HP:0001337Tremor0SLC2A1 CL E G H651311005ORPHA:1942Myoclonic-astatic epilepsyHP:0040283 - Occasional255
HP:0001337HP:0001337Tremor0SLC30A10 CL E G H5553225355ORPHA:309854Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome42
HP:0001337HP:0001337Tremor0SLC30A10 CL E G H5553225355OMIM:613280Hypermanganesemia with dystonia 1.42
HP:0001337HP:0001337Tremor0SLC38A3 CL E G H1099118044ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional
HP:0001337HP:0001337Tremor0SLC39A14 CL E G H2351620858ORPHA:521406Dystonia-parkinsonism-hypermanganesemia syndromeHP:0040282 - Frequent5
HP:0001337HP:0001337Tremor0SLC39A14 CL E G H2351620858OMIM:617013Hypermanganesemia with dystonia 2.5
HP:0001337HP:0001337Tremor0SLC39A4 CL E G H5563017129OMIM:201100Acrodermatitis enteropathica, Zinc-Deficiency type.55
HP:0001337HP:0001337Tremor0SLC5A7 CL E G H6048214025OMIM:158580Neuronopathy, distal hereditary motor, type VIIAHP:0040283 - Occasional9
HP:0001337HP:0001337Tremor0SLC6A1 CL E G H652911042ORPHA:1942Myoclonic-astatic epilepsyHP:0040283 - Occasional29
HP:0001337HP:0001337Tremor0SLC6A1 CL E G H652911042OMIM:616421Myoclonic-Atonic epilepsyHP:0040283 - Occasional29
HP:0001337HP:0001337Tremor0SLC6A17 CL E G H38866231399OMIM:616269Mental retardation, autosomal recessive 4812
HP:0001337HP:0001337Tremor0SLC6A17 CL E G H38866231399ORPHA:457212Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome12
HP:0001337HP:0001337Tremor0SLC6A3 CL E G H653111049OMIM:613135Parkinsonism-Dystonia, infantile, 1.13
HP:0001337HP:0001337Tremor0SLC9A1 CL E G H654811071OMIM:616291Lichtenstein-Knorr syndrome2
HP:0001337HP:0001337Tremor0SMC1A CL E G H824311111ORPHA:3095Atypical Rett syndromeHP:0040283 - Occasional135
HP:0001337HP:0001337Tremor0SMG9 CL E G H5600625763OMIM:6199952
HP:0001337HP:0001337Tremor0SMN1 CL E G H660611117OMIM:253550Spinal muscular atrophy, type II22
HP:0001337HP:0001337Tremor0SMN1 CL E G H660611117OMIM:253400Spinal muscular atrophy, type III22
HP:0001337HP:0001337Tremor0SMN1 CL E G H660611117OMIM:271150Spinal muscular atrophy, type IV22
HP:0001337HP:0001337Tremor0SMN2 CL E G H660711118OMIM:253400Spinal muscular atrophy, type III1
HP:0001337HP:0001337Tremor0SNCA CL E G H662211138ORPHA:411602Hereditary late-onset Parkinson disease65
HP:0001337HP:0001337Tremor0SNCA CL E G H662211138OMIM:168601Parkinson disease 1, autosomal dominant65
HP:0001337HP:0001337Tremor0SNCA CL E G H662211138ORPHA:171695Parkinsonian-pyramidal syndrome65
HP:0001337HP:0001337Tremor0SNCA CL E G H662211138ORPHA:2828Young-onset Parkinson diseaseHP:0040282 - Frequent65
HP:0001337HP:0001337Tremor0SNCAIP CL E G H962711139OMIM:168600Parkinson disease, late-onset.35
HP:0001337HP:0001337Tremor0SNORD118 CL E G H72767632952ORPHA:542310Leukoencephalopathy with calcifications and cysts6
HP:0001337HP:0001337Tremor0SNORD118 CL E G H72767632952OMIM:614561Leukoencephalopathy, brain calcifications, and cysts.6
HP:0001337HP:0001337Tremor0SNRPN CL E G H663811164OMIM:105830Angelman syndrome37
HP:0001337HP:0001337Tremor0SNX10 CL E G H2988714974ORPHA:667Autosomal recessive malignant osteopetrosisHP:0040281 - Very frequent2
HP:0001337HP:0001337Tremor0SOX10 CL E G H666311190ORPHA:478Kallmann syndromeHP:0040283 - Occasional61
HP:0001337HP:0001337Tremor0SPEN CL E G H2301317575OMIM:619312RADIO-TARTAGLIA SYNDROME; RATARS4
HP:0001337HP:0001337Tremor0SPG11 CL E G H8020811226OMIM:616668Charcot-Marie-Tooth disease, axonal, type 2XHP:0040283 - Occasional287
HP:0001337HP:0001337Tremor0SPG11 CL E G H8020811226ORPHA:300605Juvenile amyotrophic lateral sclerosis287
HP:0001337HP:0001337Tremor0SPR CL E G H669711257ORPHA:70594Dopa-responsive dystonia due to sepiapterin reductase deficiencyHP:0040282 - Frequent28
HP:0001337HP:0001337Tremor0SPR CL E G H669711257OMIM:612716Dystonia, dopa-responsive, due to sepiapterin reductase deficiency.28
HP:0001337HP:0001337Tremor0SPRY4 CL E G H8184815533ORPHA:478Kallmann syndromeHP:0040283 - Occasional5
HP:0001337HP:0001337Tremor0SPTBN1 CL E G H671111275OMIM:619475DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0001337HP:0001337Tremor0SPTBN2 CL E G H671211276ORPHA:352403Spectrin-associated autosomal recessive cerebellar ataxia126
HP:0001337HP:0001337Tremor0SPTBN2 CL E G H671211276OMIM:600224Spinocerebellar ataxia 5126
HP:0001337HP:0001337Tremor0SPTBN2 CL E G H671211276OMIM:615386Spinocerebellar ataxia, autosomal recessive 14126
HP:0001337HP:0001337Tremor0SPTLC1 CL E G H1055811277ORPHA:300605Juvenile amyotrophic lateral sclerosis54
HP:0001337HP:0001337Tremor0SPTLC1 CL E G H1055811277OMIM:162400Neuropathy, hereditary sensory and autonomic, type IA54
HP:0001337HP:0001337Tremor0SQSTM1 CL E G H887811280OMIM:617145Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset.62
HP:0001337HP:0001337Tremor0STARD7 CL E G H5691018063OMIM:607876Epilepsy, familial adult myoclonic, 2
HP:0001337HP:0001337Tremor0STUB1 CL E G H1027311427ORPHA:412057Autosomal recessive cerebellar ataxia due to STUB1 deficiency14
HP:0001337HP:0001337Tremor0STUB1 CL E G H1027311427OMIM:618093SPINOCEREBELLAR ATAXIA 48; SCA4814
HP:0001337HP:0001337Tremor0STUB1 CL E G