Human Phenotype Ontology 
Grandparent Node:
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Abnormal nervous system physiology (HP:0012638)help
Parent Node:
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Abnormality of movement (HP:0100022)help
..Starting node
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Involuntary movements (HP:0004305)help
Term ID: 4305
Name: Involuntary movements
Synonym: Involuntary movements; Involuntary muscle contractions
Definition: Involuntary contractions of muscle leading to involuntary movements of extremities, neck, trunk, or face.
Comments:
Reference: HP:0004305
Genes and Diseases:
 
       Child Nodes:
........expandStereotypy (HP:0000733) help
................... HP:0001483 Eye poking
................... HP:0008762 Repetitive compulsive behavior
................... HP:0012171 Stereotypical hand wringing
................... HP:0012172 Stereotypical body rocking
................... HP:0030218 Punding
................... HP:0100023 Recurrent hand flapping
................... HP:0100703 Tongue thrusting
........expandMyoclonus (HP:0001336) help
................... HP:0003739 Myoclonic spasms
................... HP:0007000 Morning myoclonic jerks
................... HP:0010530 Palatal myoclonus
................... HP:0010531 Spinal myoclonus
................... HP:0012323 Sleep myoclonus
................... HP:0012462 Chin myoclonus
................... HP:0025097 Eyelid myoclonus
................... HP:0025357 Erratic myoclonus
................... HP:0040148 Cortical myoclonus
................... HP:0045084 Limb myoclonus
........expandTremor (HP:0001337) help
................... HP:0002322 Resting tremor
................... HP:0002345 Action tremor
................... HP:0030188 Tremor by anatomical site
................... HP:0030665 Rubral tremor
........expandChorea (HP:0002072) help
................... HP:0001266 Choreoathetosis
........expandClonus (HP:0002169) help
................... HP:0011448 Ankle clonus
................... HP:0011449 Knee clonus
................... HP:0011728 Elbow clonus
........expandAthetosis (HP:0002305) help
........expandFasciculations (HP:0002380) help
................... HP:0001308 Tongue fasciculations
................... HP:0007089 Facial-lingual fasciculations
................... HP:0007289 Limb fasciculations
........expandParoxysmal dyskinesia (HP:0007166) help
........expandSelf-mutilation of tongue and lips due to involuntary movements (HP:0008767) help
........expandIntermittent painful muscle spasms (HP:0011964) help
........expandTics (HP:0100033) help
................... HP:0100034 Motor tics
................... HP:0100035 Phonic tics
........expandHemiballismus (HP:0100248) help

 Sister Nodes: 
..expandAbnormal head movements (HP:0002457) help
..expandAbnormal posturing (HP:0002533) help
..expandAbnormal reflex (HP:0031826) help
..expandAstasia (HP:0020037) help
..expandAsterixis (HP:0012164) help
..expandBimanual synkinesia (HP:0001335) help
..expandCerebral palsy (HP:0100021) help
..expandDiminished movement (HP:0002374) help
..expandDyskinesia (HP:0100660) help
..expandDystonia (HP:0001332) help
..expandFrontal release signs (HP:0000743) help
..expandGait disturbance (HP:0001288) help
..expandHyperactivity (HP:0000752) help
..expandHyperkinetic movements (HP:0002487) help
..expandMuscle fibrillation (HP:0010546) help
..expandMyokymia (HP:0002411) help
..expandPostural instability (HP:0002172) help
..expandPrimitive reflex (HP:0002476) help
..expandStooped posture (HP:0025403) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0004305HP:0004305Involuntary movements0AARS1 CL E G H1620OMIM:616339Epileptic encephalopathy, early infantile, 29
HP:0004305HP:0004305Involuntary movements0AARS1 CL E G H1620ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional
HP:0004305HP:0004305Involuntary movements0AARS1 CL E G H1620OMIM:619691TRICHOTHIODYSTROPHY 8, NONPHOTOSENSITIVE; TTD8
HP:0004305HP:0004305Involuntary movements0AARS2 CL E G H5750521022OMIM:615889Leukoencephalopathy, progressive, with ovarian failure143
HP:0004305HP:0004305Involuntary movements0AASS CL E G H1015717366ORPHA:2203Hyperlysinemia15
HP:0004305HP:0004305Involuntary movements0AASS CL E G H1015717366ORPHA:3124Saccharopinuria15
HP:0004305HP:0004305Involuntary movements0ABCA7 CL E G H1034737ORPHA:1020Early-onset autosomal dominant Alzheimer disease3
HP:0004305HP:0004305Involuntary movements0ABCB11 CL E G H864742ORPHA:69665Intrahepatic cholestasis of pregnancy146
HP:0004305HP:0004305Involuntary movements0ABCB4 CL E G H524445ORPHA:69665Intrahepatic cholestasis of pregnancy111
HP:0004305HP:0004305Involuntary movements0ABCB6 CL E G H1005847OMIM:609153Pseudohyperkalemia, familial, 2, due to red cell leak20
HP:0004305HP:0004305Involuntary movements0ABCB7 CL E G H2248OMIM:301310Anemia, sideroblastic, and spinocerebellar ataxia35
HP:0004305HP:0004305Involuntary movements0ABCC8 CL E G H683359OMIM:618857DIABETES MELLITUS, PERMANENT NEONATAL, 3; PNDM3245
HP:0004305HP:0004305Involuntary movements0ABCD1 CL E G H21561ORPHA:139396X-linked cerebral adrenoleukodystrophy135
HP:0004305HP:0004305Involuntary movements0ABHD12 CL E G H2609015868OMIM:612674Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract50
HP:0004305HP:0004305Involuntary movements0ABHD16A CL E G H792013921OMIM:619735SPASTIC PARAPLEGIA 86, AUTOSOMAL RECESSIVE; SPG86
HP:0004305HP:0004305Involuntary movements0ACAT2 CL E G H3994OMIM:614055Acetyl-Coa acetyltransferase-2 deficiency
HP:0004305HP:0004305Involuntary movements0ACBD5 CL E G H9145223338OMIM:618863RETINAL DYSTROPHY WITH LEUKODYSTROPHY; RDLKD1
HP:0004305HP:0004305Involuntary movements0ACO2 CL E G H50118OMIM:614559INFANTILE CEREBELLAR-RETINAL DEGENERATION; ICRD60
HP:0004305HP:0004305Involuntary movements0ACP5 CL E G H54124ORPHA:1855Spondyloenchondrodysplasia16
HP:0004305HP:0004305Involuntary movements0ACTL6B CL E G H51412160ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional2
HP:0004305HP:0004305Involuntary movements0ADA2 CL E G H518161839ORPHA:820Sneddon syndrome22
HP:0004305HP:0004305Involuntary movements0ADA2 CL E G H518161839OMIM:182410Sneddon syndrome22
HP:0004305HP:0004305Involuntary movements0ADAMTS13 CL E G H110931366OMIM:274150Thrombotic thrombocytopenic purpura, hereditary129
HP:0004305HP:0004305Involuntary movements0ADAR CL E G H103225ORPHA:51Aicardi-Goutières syndrome116
HP:0004305HP:0004305Involuntary movements0ADAR CL E G H103225OMIM:615010Aicardi-Goutieres syndrome 6116
HP:0004305HP:0004305Involuntary movements0ADAR CL E G H103225ORPHA:225154Familial infantile bilateral striatal necrosis116
HP:0004305HP:0004305Involuntary movements0ADCY5 CL E G H111236OMIM:619647DYSKINESIA WITH OROFACIAL INVOLVEMENT, AUTOSOMAL RECESSIVE; DSKOR25
HP:0004305HP:0004305Involuntary movements0ADCY5 CL E G H111236OMIM:606703Dyskinesia, familial, with facial myokymia25
HP:0004305HP:0004305Involuntary movements0ADCY5 CL E G H111236ORPHA:324588Familial dyskinesia and facial myokymia25
HP:0004305HP:0004305Involuntary movements0ADCY5 CL E G H111236OMIM:619651NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS AND DYSKINESIA; NEDHYD25
HP:0004305HP:0004305Involuntary movements0ADGRG1 CL E G H92894512OMIM:606854Polymicrogyria, bilateral frontoparietal88
HP:0004305HP:0004305Involuntary movements0ADGRL1 CL E G H2285920973OMIM:620065
HP:0004305HP:0004305Involuntary movements0ADGRV1 CL E G H8405917416ORPHA:36387Generalized epilepsy with febrile seizures-plus530
HP:0004305HP:0004305Involuntary movements0ADH1C CL E G H126251OMIM:168600Parkinson disease, late-onset4
HP:0004305HP:0004305Involuntary movements0ADNP CL E G H2339415766OMIM:615873Helsmoortel-van der Aa syndrome47
HP:0004305HP:0004305Involuntary movements0ADPRS CL E G H5493621304OMIM:618170Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures
HP:0004305HP:0004305Involuntary movements0ADRA2B CL E G H151282ORPHA:86814Benign adult familial myoclonic epilepsy3
HP:0004305HP:0004305Involuntary movements0ADSL CL E G H158291OMIM:103050Adenylosuccinase deficiency118
HP:0004305HP:0004305Involuntary movements0AFF2 CL E G H23343776ORPHA:100973FRAXE intellectual disability59
HP:0004305HP:0004305Involuntary movements0AFF2 CL E G H23343776OMIM:309548Mental retardation, X-linked, associated with fragile site fraxe59
HP:0004305HP:0004305Involuntary movements0AFF3 CL E G H38996473OMIM:619297KINSSHIP SYNDROME; KINS1
HP:0004305HP:0004305Involuntary movements0AFG3L2 CL E G H10939315ORPHA:313772Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome86
HP:0004305HP:0004305Involuntary movements0AFG3L2 CL E G H10939315OMIM:614487Spastic ataxia 5, autosomal recessive86
HP:0004305HP:0004305Involuntary movements0AFG3L2 CL E G H10939315ORPHA:101109Spinocerebellar ataxia type 2886
HP:0004305HP:0004305Involuntary movements0AGTPBP1 CL E G H2328717258OMIM:618276Neurodegeneration, childhood-onset, with cerebellar atrophy1
HP:0004305HP:0004305Involuntary movements0AGTPBP1 CL E G H2328717258ORPHA:2254Pontocerebellar hypoplasia type 11
HP:0004305HP:0004305Involuntary movements0AHI1 CL E G H5480621575ORPHA:475Joubert syndrome175
HP:0004305HP:0004305Involuntary movements0AHI1 CL E G H5480621575ORPHA:220493Joubert syndrome with ocular defect175
HP:0004305HP:0004305Involuntary movements0AIFM1 CL E G H91318768OMIM:300816Combined oxidative phosphorylation deficiency 6.60
HP:0004305HP:0004305Involuntary movements0AIFM1 CL E G H91318768ORPHA:83629Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome60
HP:0004305HP:0004305Involuntary movements0AIFM1 CL E G H91318768ORPHA:238329Severe X-linked mitochondrial encephalomyopathyHP:0040282 - Frequent60
HP:0004305HP:0004305Involuntary movements0AIFM1 CL E G H91318768ORPHA:101078X-linked Charcot-Marie-Tooth disease type 460
HP:0004305HP:0004305Involuntary movements0AKT1 CL E G H207391OMIM:615109Cowden syndrome 654
HP:0004305HP:0004305Involuntary movements0AKT1 CL E G H207391ORPHA:2495Meningioma54
HP:0004305HP:0004305Involuntary movements0AKT3 CL E G H10000393ORPHA:99802Hemimegalencephaly19
HP:0004305HP:0004305Involuntary movements0ALDH18A1 CL E G H58329722ORPHA:447753Autosomal dominant spastic paraplegia type 9A89
HP:0004305HP:0004305Involuntary movements0ALDH18A1 CL E G H58329722ORPHA:447757Autosomal dominant spastic paraplegia type 9B89
HP:0004305HP:0004305Involuntary movements0ALDH18A1 CL E G H58329722ORPHA:447760Autosomal recessive spastic paraplegia type 9B89
HP:0004305HP:0004305Involuntary movements0ALDH18A1 CL E G H58329722OMIM:219150Cutis laxa, autosomal recessive, type IIIA89
HP:0004305HP:0004305Involuntary movements0ALDH18A1 CL E G H58329722OMIM:601162Spastic paraplegia 9A, autosomal dominant89
HP:0004305HP:0004305Involuntary movements0ALDH18A1 CL E G H58329722OMIM:616586Spastic paraplegia 9B, autosomal recessive89
HP:0004305HP:0004305Involuntary movements0ALKBH8 CL E G H9180125189OMIM:618504Intellectual developmental disorder, autosomal recessive 71
HP:0004305HP:0004305Involuntary movements0ALS2 CL E G H57679443OMIM:205100Amyotrophic lateral sclerosis 2, juvenile114
HP:0004305HP:0004305Involuntary movements0ALS2 CL E G H57679443ORPHA:300605Juvenile amyotrophic lateral sclerosis114
HP:0004305HP:0004305Involuntary movements0AMACR CL E G H23600451OMIM:614307Alpha-methylacyl-CoA racemase deficiency44
HP:0004305HP:0004305Involuntary movements0AMACR CL E G H23600451ORPHA:79095Congenital bile acid synthesis defect type 444
HP:0004305HP:0004305Involuntary movements0AMPD2 CL E G H271469OMIM:615809Pontocerebellar hypoplasia, type 921
HP:0004305HP:0004305Involuntary movements0AMPD2 CL E G H271469OMIM:615686Spastic paraplegia 63, autosomal recessive21
HP:0004305HP:0004305Involuntary movements0AMT CL E G H275473OMIM:605899Glycine encephalopathy56
HP:0004305HP:0004305Involuntary movements0ANO10 CL E G H5512925519ORPHA:284289Adult-onset autosomal recessive cerebellar ataxia64
HP:0004305HP:0004305Involuntary movements0ANO10 CL E G H5512925519OMIM:613728Spinocerebellar ataxia, autosomal recessive 1064
HP:0004305HP:0004305Involuntary movements0ANO3 CL E G H6398214004ORPHA:420485Cranio-cervical dystonia with laryngeal and upper-limb involvement17
HP:0004305HP:0004305Involuntary movements0ANO3 CL E G H6398214004OMIM:615034Dystonia 2417
HP:0004305HP:0004305Involuntary movements0ANOS1 CL E G H37306211ORPHA:478Kallmann syndrome65
HP:0004305HP:0004305Involuntary movements0ANXA11 CL E G H311535OMIM:619733INCLUSION BODY MYOPATHY AND BRAIN WHITE MATTER ABNORMALITIES; IBMWMA
HP:0004305HP:0004305Involuntary movements0AP1S2 CL E G H8905560OMIM:304340Pettigrew syndrome13
HP:0004305HP:0004305Involuntary movements0AP2M1 CL E G H1173564OMIM:618587INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 60, WITH SEIZURES; MRD60
HP:0004305HP:0004305Involuntary movements0AP2M1 CL E G H1173564ORPHA:1942Myoclonic-astatic epilepsy
HP:0004305HP:0004305Involuntary movements0AP3B2 CL E G H8120567ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional7
HP:0004305HP:0004305Involuntary movements0AP4B1 CL E G H10717572ORPHA:280763Severe intellectual disability and progressive spastic paraplegia49
HP:0004305HP:0004305Involuntary movements0AP4E1 CL E G H23431573ORPHA:280763Severe intellectual disability and progressive spastic paraplegia48
HP:0004305HP:0004305Involuntary movements0AP4M1 CL E G H9179574ORPHA:280763Severe intellectual disability and progressive spastic paraplegia41
HP:0004305HP:0004305Involuntary movements0AP4S1 CL E G H11154575ORPHA:280763Severe intellectual disability and progressive spastic paraplegia18
HP:0004305HP:0004305Involuntary movements0AP5Z1 CL E G H990722197ORPHA:306511Autosomal recessive spastic paraplegia type 48165
HP:0004305HP:0004305Involuntary movements0APC2 CL E G H1029724036ORPHA:821Sotos syndrome1
HP:0004305HP:0004305Involuntary movements0APOE CL E G H348613OMIM:607822Alzheimer disease 339
HP:0004305HP:0004305Involuntary movements0APP CL E G H351620ORPHA:324708ABeta amyloidosis, Iowa type74
HP:0004305HP:0004305Involuntary movements0APP CL E G H351620ORPHA:1020Early-onset autosomal dominant Alzheimer disease74
HP:0004305HP:0004305Involuntary movements0APTX CL E G H5484015984OMIM:208920Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia61
HP:0004305HP:0004305Involuntary movements0AR CL E G H367644OMIM:313200Spinal and bulbar muscular atrophy, X-linked 1125
HP:0004305HP:0004305Involuntary movements0ARID2 CL E G H19652818037OMIM:617808Coffin-siris syndrome 625
HP:0004305HP:0004305Involuntary movements0ARL13B CL E G H20089425419ORPHA:475Joubert syndrome62
HP:0004305HP:0004305Involuntary movements0ARL3 CL E G H403694ORPHA:475Joubert syndrome1
HP:0004305HP:0004305Involuntary movements0ARMC9 CL E G H8021020730ORPHA:475Joubert syndrome
HP:0004305HP:0004305Involuntary movements0ARPC4 CL E G H10093707OMIM:620141
HP:0004305HP:0004305Involuntary movements0ARSA CL E G H410713OMIM:250100Metachromatic leukodystrophy253
HP:0004305HP:0004305Involuntary movements0ARSA CL E G H410713ORPHA:309271Metachromatic leukodystrophy, adult form253
HP:0004305HP:0004305Involuntary movements0ARSA CL E G H410713ORPHA:309263Metachromatic leukodystrophy, juvenile form253
HP:0004305HP:0004305Involuntary movements0ARV1 CL E G H6480129561ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional3
HP:0004305HP:0004305Involuntary movements0ARX CL E G H17030218060OMIM:308350Developmental and epileptic encephalopathy 1166
HP:0004305HP:0004305Involuntary movements0ARX CL E G H17030218060ORPHA:1934Early infantile epileptic encephalopathy166
HP:0004305HP:0004305Involuntary movements0ARX CL E G H17030218060ORPHA:3451Infantile spasms syndrome166
HP:0004305HP:0004305Involuntary movements0ASAH1 CL E G H427735ORPHA:333Farber disease78
HP:0004305HP:0004305Involuntary movements0ASAH1 CL E G H427735OMIM:159950Spinal muscular atrophy with progressive myoclonic epilepsy78
HP:0004305HP:0004305Involuntary movements0ASAH1 CL E G H427735ORPHA:2590Spinal muscular atrophy-progressive myoclonic epilepsy syndrome78
HP:0004305HP:0004305Involuntary movements0ASH1L CL E G H5587019088OMIM:617796Mental retardation, autosomal dominant 521
HP:0004305HP:0004305Involuntary movements0ASXL3 CL E G H8081629357ORPHA:352577Bainbridge-Ropers syndrome49
HP:0004305HP:0004305Involuntary movements0ASXL3 CL E G H8081629357OMIM:615485BAINBRIDGE-ROPERS SYNDROME; BRPS49
HP:0004305HP:0004305Involuntary movements0ATAD1 CL E G H8489625903ORPHA:3197Hereditary hyperekplexia
HP:0004305HP:0004305Involuntary movements0ATAD1 CL E G H8489625903OMIM:618011Hyperekplexia 4
HP:0004305HP:0004305Involuntary movements0ATCAY CL E G H85300779OMIM:601238Cerebellar ataxia, Cayman type72
HP:0004305HP:0004305Involuntary movements0ATCAY CL E G H85300779ORPHA:94122Cerebellar ataxia, Cayman type72
HP:0004305HP:0004305Involuntary movements0ATG7 CL E G H1053316935OMIM:619422SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 31; SCAR311
HP:0004305HP:0004305Involuntary movements0ATL1 CL E G H5106211231ORPHA:100984Autosomal dominant spastic paraplegia type 371
HP:0004305HP:0004305Involuntary movements0ATM CL E G H472795ORPHA:100Ataxia-telangiectasia3267
HP:0004305HP:0004305Involuntary movements0ATM CL E G H472795OMIM:208900ATAXIA-TELANGIECTASIA3267
HP:0004305HP:0004305Involuntary movements0ATN1 CL E G H18223033ORPHA:101Dentatorubral pallidoluysian atrophyHP:0040282 - Frequent16
HP:0004305HP:0004305Involuntary movements0ATN1 CL E G H18223033OMIM:125370Dentatorubral-Pallidoluysian atrophy naito-oyanagi disease haw river syndrome ataxia, chorea, seizures, and dementia16
HP:0004305HP:0004305Involuntary movements0ATP11A CL E G H2325013552OMIM:619851LEUKODYSTROPHY, HYPOMYELINATING, 24; HLD24
HP:0004305HP:0004305Involuntary movements0ATP13A2 CL E G H2340030213ORPHA:314632ATP13A2-related juvenile neuronal ceroid lipofuscinosis100
HP:0004305HP:0004305Involuntary movements0ATP13A2 CL E G H2340030213ORPHA:306674Kufor-Rakeb syndrome100
HP:0004305HP:0004305Involuntary movements0ATP13A2 CL E G H2340030213OMIM:606693Kufor-Rakeb syndrome100
HP:0004305HP:0004305Involuntary movements0ATP13A2 CL E G H2340030213OMIM:617225SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE; SPG78100
HP:0004305HP:0004305Involuntary movements0ATP1A2 CL E G H477800ORPHA:2131Alternating hemiplegia of childhood239
HP:0004305HP:0004305Involuntary movements0ATP1A2 CL E G H477800OMIM:104290Alternating hemiplegia of childhood 1239
HP:0004305HP:0004305Involuntary movements0ATP1A2 CL E G H477800ORPHA:569Familial or sporadic hemiplegic migraineHP:0040282 - Frequent239
HP:0004305HP:0004305Involuntary movements0ATP1A2 CL E G H477800OMIM:602481Migraine, familial hemiplegic, 2239
HP:0004305HP:0004305Involuntary movements0ATP1A2 CL E G H477800ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional239
HP:0004305HP:0004305Involuntary movements0ATP1A3 CL E G H478801ORPHA:2131Alternating hemiplegia of childhood150
HP:0004305HP:0004305Involuntary movements0ATP1A3 CL E G H478801OMIM:614820Alternating hemiplegia of childhood 2150
HP:0004305HP:0004305Involuntary movements0ATP1A3 CL E G H478801OMIM:619606DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 99; DEE99150
HP:0004305HP:0004305Involuntary movements0ATP1A3 CL E G H478801OMIM:128235Dystonia 12150
HP:0004305HP:0004305Involuntary movements0ATP1A3 CL E G H478801ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional150
HP:0004305HP:0004305Involuntary movements0ATP1A3 CL E G H478801ORPHA:71517Rapid-onset dystonia-parkinsonism150
HP:0004305HP:0004305Involuntary movements0ATP2B3 CL E G H492816OMIM:302500Spinocerebellar ataxia, X-linked 119
HP:0004305HP:0004305Involuntary movements0ATP2B3 CL E G H492816ORPHA:314978X-linked non progressive cerebellar ataxia19
HP:0004305HP:0004305Involuntary movements0ATP5MK CL E G H8483330889OMIM:618683MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 6; MC5DN6
HP:0004305HP:0004305Involuntary movements0ATP6 CL E G H45087414ORPHA:225154Familial infantile bilateral striatal necrosis
HP:0004305HP:0004305Involuntary movements0ATP6 CL E G H45087414ORPHA:104Leber hereditary optic neuropathy
HP:0004305HP:0004305Involuntary movements0ATP6 CL E G H45087414OMIM:535000Leber optic atrophy
HP:0004305HP:0004305Involuntary movements0ATP6 CL E G H45087414ORPHA:255210Mitochondrial DNA-associated Leigh syndrome
HP:0004305HP:0004305Involuntary movements0ATP6 CL E G H45087414ORPHA:644NARP syndrome
HP:0004305HP:0004305Involuntary movements0ATP6AP2 CL E G H1015918305OMIM:300423MENTAL RETARDATION, X-LINKED, SYNDROMIC, HEDERA TYPE; MRXSH36
HP:0004305HP:0004305Involuntary movements0ATP6AP2 CL E G H1015918305OMIM:300911Parkinsonism with spasticity, X-linked36
HP:0004305HP:0004305Involuntary movements0ATP6AP2 CL E G H1015918305ORPHA:93952X-linked intellectual disability, Hedera type36
HP:0004305HP:0004305Involuntary movements0ATP6AP2 CL E G H1015918305ORPHA:363654X-linked parkinsonism-spasticity syndrome36
HP:0004305HP:0004305Involuntary movements0ATP6V0A1 CL E G H535865OMIM:6199711
HP:0004305HP:0004305Involuntary movements0ATP6V1A CL E G H523851ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional3
HP:0004305HP:0004305Involuntary movements0ATP6V1B2 CL E G H526854ORPHA:79500DOORS syndrome5
HP:0004305HP:0004305Involuntary movements0ATP7A CL E G H538869ORPHA:565Menkes disease192
HP:0004305HP:0004305Involuntary movements0ATP7B CL E G H540870OMIM:277900Wilson disease315
HP:0004305HP:0004305Involuntary movements0ATP8B1 CL E G H52053706ORPHA:69665Intrahepatic cholestasis of pregnancy144
HP:0004305HP:0004305Involuntary movements0ATRX CL E G H546886OMIM:301040Alpha-Thalassemia/mental retardation syndrome, X-linked169
HP:0004305HP:0004305Involuntary movements0ATXN1 CL E G H631010548OMIM:164400Spinocerebellar ataxia 119
HP:0004305HP:0004305Involuntary movements0ATXN1 CL E G H631010548ORPHA:98755Spinocerebellar ataxia type 119
HP:0004305HP:0004305Involuntary movements0ATXN10 CL E G H2581410549OMIM:603516Spinocerebellar ataxia 109
HP:0004305HP:0004305Involuntary movements0ATXN10 CL E G H2581410549ORPHA:98761Spinocerebellar ataxia type 109
HP:0004305HP:0004305Involuntary movements0ATXN2 CL E G H631110555OMIM:168600Parkinson disease, late-onset11
HP:0004305HP:0004305Involuntary movements0ATXN2 CL E G H631110555OMIM:183090Spinocerebellar ataxia 211
HP:0004305HP:0004305Involuntary movements0ATXN2 CL E G H631110555ORPHA:98756Spinocerebellar ataxia type 211
HP:0004305HP:0004305Involuntary movements0ATXN3 CL E G H42877106OMIM:109150Machado-Joseph disease14
HP:0004305HP:0004305Involuntary movements0ATXN3 CL E G H42877106ORPHA:276238Machado-Joseph disease type 114
HP:0004305HP:0004305Involuntary movements0ATXN3 CL E G H42877106ORPHA:276241Machado-Joseph disease type 214
HP:0004305HP:0004305Involuntary movements0ATXN3 CL E G H42877106ORPHA:276244Machado-Joseph disease type 314
HP:0004305HP:0004305Involuntary movements0ATXN7 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:0004305HP:0004305Involuntary movements0ATXN8 CL E G H72406632925OMIM:608768Spinocerebellar ataxia 81
HP:0004305HP:0004305Involuntary movements0ATXN8OS CL E G H631510561OMIM:168600Parkinson disease, late-onset1
HP:0004305HP:0004305Involuntary movements0ATXN8OS CL E G H631510561OMIM:608768Spinocerebellar ataxia 81
HP:0004305HP:0004305Involuntary movements0AUH CL E G H549890OMIM:2509503-methylglutaconic aciduria, type I49
HP:0004305HP:0004305Involuntary movements0AUTS2 CL E G H2605314262ORPHA:352490Autism spectrum disorder due to AUTS2 deficiency61
HP:0004305HP:0004305Involuntary movements0B9D1 CL E G H2707724123ORPHA:475Joubert syndrome28
HP:0004305HP:0004305Involuntary movements0B9D2 CL E G H8077628636ORPHA:475Joubert syndrome34
HP:0004305HP:0004305Involuntary movements0BAP1 CL E G H8314950ORPHA:2495Meningioma184
HP:0004305HP:0004305Involuntary movements0BAZ1B CL E G H9031961ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0004305HP:0004305Involuntary movements0BCL7B CL E G H92751005ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0004305HP:0004305Involuntary movements0BCORL1 CL E G H6303525657OMIM:301029Shukla-Vernon syndrome17
HP:0004305HP:0004305Involuntary movements0BCR CL E G H6131014ORPHA:261330Distal 22q11.2 microdeletion syndrome5
HP:0004305HP:0004305Involuntary movements0BEAN1 CL E G H14622724160ORPHA:217012Spinocerebellar ataxia type 311
HP:0004305HP:0004305Involuntary movements0BICD2 CL E G H2329917208OMIM:615290Spinal muscular atrophy, lower extremity-predominant, 2, autosomaldominant46
HP:0004305HP:0004305Involuntary movements0BICRA CL E G H299984332OMIM:619325COFFIN-SIRIS SYNDROME 12; CSS122
HP:0004305HP:0004305Involuntary movements0BOLA3 CL E G H38896224415OMIM:614299Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia14
HP:0004305HP:0004305Involuntary movements0BRAF CL E G H6731097OMIM:115150Cardiofaciocutaneous syndrome 1276
HP:0004305HP:0004305Involuntary movements0BRAT1 CL E G H22192721701OMIM:618056Neurodevelopmental disorder with cerebellar atrophy and with or without seizures20
HP:0004305HP:0004305Involuntary movements0BRAT1 CL E G H22192721701OMIM:614498Rigidity and multifocal seizure syndrome, lethal neonatal20
HP:0004305HP:0004305Involuntary movements0BSCL2 CL E G H2658015832ORPHA:100998Autosomal dominant spastic paraplegia type 17105
HP:0004305HP:0004305Involuntary movements0BSCL2 CL E G H2658015832OMIM:615924Encephalopathy, progressive, with or without lipodystrophy105
HP:0004305HP:0004305Involuntary movements0BSCL2 CL E G H2658015832ORPHA:363400Severe neurodegenerative syndrome with lipodystrophy105
HP:0004305HP:0004305Involuntary movements0BSCL2 CL E G H2658015832OMIM:270685Spastic paraplegia 17105
HP:0004305HP:0004305Involuntary movements0BUD23 CL E G H11404916405ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0004305HP:0004305Involuntary movements0C19ORF12 CL E G H8363625443ORPHA:289560Mitochondrial membrane protein-associated neurodegeneration114
HP:0004305HP:0004305Involuntary movements0C19ORF12 CL E G H8363625443OMIM:614298Neurodegeneration with brain iron accumulation 4114
HP:0004305HP:0004305Involuntary movements0C9ORF72 CL E G H20322828337ORPHA:275864Behavioral variant of frontotemporal dementia56
HP:0004305HP:0004305Involuntary movements0C9ORF72 CL E G H20322828337ORPHA:275872Frontotemporal dementia with motor neuron disease56
HP:0004305HP:0004305Involuntary movements0C9ORF72 CL E G H20322828337ORPHA:401901Huntington disease-like syndrome due to C9ORF72 expansions56
HP:0004305HP:0004305Involuntary movements0CA8 CL E G H7671382OMIM:613227Cerebellar ataxia, mental retardation, and dysequilibrium syndrome38
HP:0004305HP:0004305Involuntary movements0CABP4 CL E G H570101386ORPHA:98784Autosomal dominant nocturnal frontal lobe epilepsyHP:0040282 - Frequent94
HP:0004305HP:0004305Involuntary movements0CACNA1A CL E G H7731388ORPHA:2131Alternating hemiplegia of childhood449
HP:0004305HP:0004305Involuntary movements0CACNA1A CL E G H7731388OMIM:617106Epileptic encephalopathy, early infantile, 42449
HP:0004305HP:0004305Involuntary movements0CACNA1A CL E G H7731388ORPHA:569Familial or sporadic hemiplegic migraineHP:0040282 - Frequent449
HP:0004305HP:0004305Involuntary movements0CACNA1A CL E G H7731388ORPHA:2382Lennox-Gastaut syndrome449
HP:0004305HP:0004305Involuntary movements0CACNA1A CL E G H7731388OMIM:141500Migraine, familial hemiplegic, 1449
HP:0004305HP:0004305Involuntary movements0CACNA1A CL E G H7731388ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional449
HP:0004305HP:0004305Involuntary movements0CACNA1A CL E G H7731388ORPHA:98758Spinocerebellar ataxia type 6449
HP:0004305HP:0004305Involuntary movements0CACNA1B CL E G H7741389OMIM:618497Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements5
HP:0004305HP:0004305Involuntary movements0CACNA1B CL E G H7741389ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional5
HP:0004305HP:0004305Involuntary movements0CACNA1C CL E G H7751390OMIM:620029572
HP:0004305HP:0004305Involuntary movements0CACNA1D CL E G H7761391OMIM:615474Primary aldosteronism, seizures, and neurologic abnormalities51
HP:0004305HP:0004305Involuntary movements0CACNA1D CL E G H7761391ORPHA:369929Primary hyperaldosteronism-seizures-neurological abnormalities syndrome51
HP:0004305HP:0004305Involuntary movements0CACNA1E CL E G H7771392OMIM:618285Developmental and epileptic encephalopathy 6911
HP:0004305HP:0004305Involuntary movements0CACNA1G CL E G H89131394OMIM:616795Spinocerebellar ataxia 4232
HP:0004305HP:0004305Involuntary movements0CACNA1G CL E G H89131394ORPHA:458803Spinocerebellar ataxia type 4232
HP:0004305HP:0004305Involuntary movements0CACNA1H CL E G H89121395ORPHA:64280Childhood absence epilepsy75
HP:0004305HP:0004305Involuntary movements0CACNA1S CL E G H7791397ORPHA:79102Thyrotoxic periodic paralysis247
HP:0004305HP:0004305Involuntary movements0CACNA2D1 CL E G H7811399ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional59
HP:0004305HP:0004305Involuntary movements0CACNA2D2 CL E G H92541400OMIM:618501Cerebellar atrophy with seizures and variable developmental delay48
HP:0004305HP:0004305Involuntary movements0CACNB4 CL E G H7851404OMIM:607682Epilepsy, idiopathic generalized, susceptibility to, 9146
HP:0004305HP:0004305Involuntary movements0CACNB4 CL E G H7851404OMIM:613855Episodic ataxia, type 5146
HP:0004305HP:0004305Involuntary movements0CACNB4 CL E G H7851404ORPHA:307Juvenile myoclonic epilepsy146
HP:0004305HP:0004305Involuntary movements0CAMK2A CL E G H8151460OMIM:617798Mental retardation, autosomal dominant 531
HP:0004305HP:0004305Involuntary movements0CAMTA1 CL E G H2326118806OMIM:614756Cerebellar ataxia, nonprogressive, with mental retardation34
HP:0004305HP:0004305Involuntary movements0CAMTA1 CL E G H2326118806ORPHA:314647Non-progressive cerebellar ataxia with intellectual disability34
HP:0004305HP:0004305Involuntary movements0CAPN1 CL E G H8231476ORPHA:488594Autosomal recessive spastic paraplegia type 764
HP:0004305HP:0004305Involuntary movements0CARS1 CL E G H8331493OMIM:618891MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME; MDBH
HP:0004305HP:0004305Involuntary movements0CARS1 CL E G H8331493ORPHA:33364Trichothiodystrophy
HP:0004305HP:0004305Involuntary movements0CARS2 CL E G H7958725695ORPHA:477774Combined oxidative phosphorylation defect type 27HP:0040283 - Occasional35
HP:0004305HP:0004305Involuntary movements0CARS2 CL E G H7958725695OMIM:616672Combined oxidative phosphorylation deficiency 2735
HP:0004305HP:0004305Involuntary movements0CASK CL E G H85731497ORPHA:1934Early infantile epileptic encephalopathy118
HP:0004305HP:0004305Involuntary movements0CASR CL E G H8461514ORPHA:428Autosomal dominant hypocalcemia272
HP:0004305HP:0004305Involuntary movements0CASZ1 CL E G H5489726002ORPHA:16061p36 deletion syndrome3
HP:0004305HP:0004305Involuntary movements0CAV1 CL E G H8571527OMIM:606721Lipodystrophy, familial partial, type 711
HP:0004305HP:0004305Involuntary movements0CBY1 CL E G H257761307ORPHA:475Joubert syndrome1
HP:0004305HP:0004305Involuntary movements0CC2D2A CL E G H5754529253ORPHA:1454Joubert syndrome with hepatic defect247
HP:0004305HP:0004305Involuntary movements0CCDC141 CL E G H28502526821ORPHA:478Kallmann syndrome
HP:0004305HP:0004305Involuntary movements0CCDC88A CL E G H5570425523OMIM:617507Peho-Like syndrome1
HP:0004305HP:0004305Involuntary movements0CCDC88C CL E G H44019319967OMIM:616053Spinocerebellar ataxia 4054
HP:0004305HP:0004305Involuntary movements0CCDC88C CL E G H44019319967ORPHA:423275Spinocerebellar ataxia type 4054
HP:0004305HP:0004305Involuntary movements0CCNF CL E G H8991591OMIM:619141FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 5; FTDALS5
HP:0004305HP:0004305Involuntary movements0CCT5 CL E G H229481618ORPHA:139578Mutilating hereditary sensory neuropathy with spastic paraplegia56
HP:0004305HP:0004305Involuntary movements0CCT5 CL E G H229481618OMIM:256840Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive56
HP:0004305HP:0004305Involuntary movements0CD28 CL E G H9401653ORPHA:3162Sézary syndrome
HP:0004305HP:0004305Involuntary movements0CD40LG CL E G H95911935OMIM:308230Immunodeficiency, X-linked, with hyper-IgM33
HP:0004305HP:0004305Involuntary movements0CDC42BPB CL E G H95781738OMIM:619841
HP:0004305HP:0004305Involuntary movements0CDH23 CL E G H6407213733ORPHA:91347TSH-secreting pituitary adenoma636
HP:0004305HP:0004305Involuntary movements0CDK19 CL E G H2309719338OMIM:618916DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 87; DEE87
HP:0004305HP:0004305Involuntary movements0CDK19 CL E G H2309719338ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional
HP:0004305HP:0004305Involuntary movements0CDKL5 CL E G H679211411ORPHA:3095Atypical Rett syndromeHP:0040281 - Very frequent405
HP:0004305HP:0004305Involuntary movements0CDKL5 CL E G H679211411ORPHA:505652CDKL5-deficiency disorder405
HP:0004305HP:0004305Involuntary movements0CDKL5 CL E G H679211411OMIM:300672Developmental and epileptic encephalopathy 2405
HP:0004305HP:0004305Involuntary movements0CDKL5 CL E G H679211411ORPHA:1934Early infantile epileptic encephalopathy405
HP:0004305HP:0004305Involuntary movements0CDKL5 CL E G H679211411ORPHA:3451Infantile spasms syndrome405
HP:0004305HP:0004305Involuntary movements0CELF2 CL E G H106592550OMIM:619561DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 97; DEE97
HP:0004305HP:0004305Involuntary movements0CELF2 CL E G H106592550ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional
HP:0004305HP:0004305Involuntary movements0CEP104 CL E G H973124866OMIM:6199885
HP:0004305HP:0004305Involuntary movements0CEP104 CL E G H973124866ORPHA:475Joubert syndrome5
HP:0004305HP:0004305Involuntary movements0CEP120 CL E G H15324126690ORPHA:475Joubert syndrome7
HP:0004305HP:0004305Involuntary movements0CEP120 CL E G H15324126690ORPHA:220493Joubert syndrome with ocular defect7
HP:0004305HP:0004305Involuntary movements0CEP126 CL E G H5756229264ORPHA:65684Monomelic amyotrophy
HP:0004305HP:0004305Involuntary movements0CEP152 CL E G H2299529298OMIM:614852Microcephaly 9, primary, autosomal recessive146
HP:0004305HP:0004305Involuntary movements0CEP41 CL E G H9568112370ORPHA:475Joubert syndrome90
HP:0004305HP:0004305Involuntary movements0CEP41 CL E G H9568112370ORPHA:220493Joubert syndrome with ocular defect90
HP:0004305HP:0004305Involuntary movements0CEP85L CL E G H38711921638ORPHA:572013Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome1
HP:0004305HP:0004305Involuntary movements0CERS1 CL E G H1071514253OMIM:616230Epilepsy, progressive myoclonic, 81
HP:0004305HP:0004305Involuntary movements0CERT1 CL E G H100872205OMIM:616351Mental retardation, autosomal dominant 34
HP:0004305HP:0004305Involuntary movements0CHAMP1 CL E G H28348920311OMIM:616579Mental retardation, autosomal dominant 4016
HP:0004305HP:0004305Involuntary movements0CHCHD10 CL E G H40091615559ORPHA:275872Frontotemporal dementia with motor neuron disease11
HP:0004305HP:0004305Involuntary movements0CHCHD10 CL E G H40091615559ORPHA:276435Lower motor neuron syndrome with late-adult onset11
HP:0004305HP:0004305Involuntary movements0CHCHD10 CL E G H40091615559OMIM:615048Spinal muscular atrophy, Jokela type11
HP:0004305HP:0004305Involuntary movements0CHCHD2 CL E G H5114221645OMIM:616710Parkinson disease 22, autosomal dominant3
HP:0004305HP:0004305Involuntary movements0CHD1 CL E G H11051915ORPHA:529965Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome2
HP:0004305HP:0004305Involuntary movements0CHD2 CL E G H11061917ORPHA:2382Lennox-Gastaut syndrome227
HP:0004305HP:0004305Involuntary movements0CHD2 CL E G H11061917ORPHA:1942Myoclonic-astatic epilepsy227
HP:0004305HP:0004305Involuntary movements0CHD3 CL E G H11071918OMIM:618205Snijders blok-campeau syndrome2
HP:0004305HP:0004305Involuntary movements0CHD7 CL E G H5563620626ORPHA:478Kallmann syndrome515
HP:0004305HP:0004305Involuntary movements0CHD8 CL E G H5768020153OMIM:615032AUTISM, SUSCEPTIBILITY TO, 18; AUTS1872
HP:0004305HP:0004305Involuntary movements0CHKA CL E G H11191937OMIM:620023
HP:0004305HP:0004305Involuntary movements0CHMP1A CL E G H51198740OMIM:614961Pontocerebellar hypoplasia, type 819
HP:0004305HP:0004305Involuntary movements0CHMP2B CL E G H2597824537ORPHA:275864Behavioral variant of frontotemporal dementia42
HP:0004305HP:0004305Involuntary movements0CHMP2B CL E G H2597824537OMIM:600795Frontotemporal dementia and/or amytrophic lateral sclerosis 742
HP:0004305HP:0004305Involuntary movements0CHRNA2 CL E G H11351956ORPHA:98784Autosomal dominant nocturnal frontal lobe epilepsyHP:0040282 - Frequent188
HP:0004305HP:0004305Involuntary movements0CHRNA4 CL E G H11371958ORPHA:98784Autosomal dominant nocturnal frontal lobe epilepsyHP:0040282 - Frequent225
HP:0004305HP:0004305Involuntary movements0CHRNB2 CL E G H11411962ORPHA:98784Autosomal dominant nocturnal frontal lobe epilepsyHP:0040282 - Frequent88
HP:0004305HP:0004305Involuntary movements0CIC CL E G H2315214214OMIM:617600Mental retardation, autosomal dominant 4539
HP:0004305HP:0004305Involuntary movements0CILK1 CL E G H2285821219ORPHA:307Juvenile myoclonic epilepsy
HP:0004305HP:0004305Involuntary movements0CIZ1 CL E G H2579216744ORPHA:420492Adult-onset cervical dystonia, DYT23 type16
HP:0004305HP:0004305Involuntary movements0CLCN2 CL E G H11812020ORPHA:307Juvenile myoclonic epilepsy44
HP:0004305HP:0004305Involuntary movements0CLCN2 CL E G H11812020OMIM:615651Leukoencephalopathy with ataxia44
HP:0004305HP:0004305Involuntary movements0CLCN3 CL E G H11822021OMIM:619512NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA2
HP:0004305HP:0004305Involuntary movements0CLCN4 CL E G H11832022ORPHA:485350CLCN4-related X-linked intellectual disability syndrome45
HP:0004305HP:0004305Involuntary movements0CLCN7 CL E G H11862025ORPHA:667Autosomal recessive malignant osteopetrosis102
HP:0004305HP:0004305Involuntary movements0CLIP2 CL E G H74612586ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0004305HP:0004305Involuntary movements0CLN3 CL E G H12012074OMIM:204200Ceroid lipofuscinosis, neuronal, 3216
HP:0004305HP:0004305Involuntary movements0CLN5 CL E G H12032076OMIM:256731Ceroid lipofuscinosis, neuronal, 5141
HP:0004305HP:0004305Involuntary movements0CLN5 CL E G H12032076ORPHA:228360CLN5 disease141
HP:0004305HP:0004305Involuntary movements0CLN6 CL E G H549822077OMIM:204300Ceroid lipofuscinosis, neuronal, 4A, autosomal recessive143
HP:0004305HP:0004305Involuntary movements0CLN8 CL E G H20552079OMIM:600143Ceroid lipofuscinosis, neuronal, 8111
HP:0004305HP:0004305Involuntary movements0CLPB CL E G H8157030664ORPHA:4450383-methylglutaconic aciduria type 738
HP:0004305HP:0004305Involuntary movements0CLPB CL E G H8157030664OMIM:6162713-Methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia38
HP:0004305HP:0004305Involuntary movements0CLTC CL E G H12132092OMIM:617854Mental retardation, autosomal dominant 561
HP:0004305HP:0004305Involuntary movements0CLTC CL E G H12132092ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional1
HP:0004305HP:0004305Involuntary movements0CNKSR2 CL E G H2286619701ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional18
HP:0004305HP:0004305Involuntary movements0CNPY3 CL E G H1069511968ORPHA:3451Infantile spasms syndrome
HP:0004305HP:0004305Involuntary movements0CNTN2 CL E G H69002172ORPHA:86814Benign adult familial myoclonic epilepsy9
HP:0004305HP:0004305Involuntary movements0CNTN2 CL E G H69002172OMIM:615400Epilepsy, familial adult myoclonic, 59
HP:0004305HP:0004305Involuntary movements0CNTNAP2 CL E G H2604713830ORPHA:163681CNTNAP2-related developmental and epileptic encephalopathy518
HP:0004305HP:0004305Involuntary movements0CNTNAP2 CL E G H2604713830OMIM:610042Pitt-Hopkins-Like syndrome 1518
HP:0004305HP:0004305Involuntary movements0COA7 CL E G H6526025716OMIM:618387Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3
HP:0004305HP:0004305Involuntary movements0COG8 CL E G H8434218623ORPHA:95428COG8-CDG39
HP:0004305HP:0004305Involuntary movements0COL25A1 CL E G H8457018603ORPHA:1143Neurogenic arthrogryposis multiplex congenita3
HP:0004305HP:0004305Involuntary movements0COL6A3 CL E G H12932213OMIM:616411Dystonia 27702
HP:0004305HP:0004305Involuntary movements0COL6A3 CL E G H12932213ORPHA:464440Primary dystonia, DYT27 type702
HP:0004305HP:0004305Involuntary movements0COQ2 CL E G H2723525223OMIM:607426Coenzyme Q10 deficiency, primary, 154
HP:0004305HP:0004305Involuntary movements0COQ2 CL E G H2723525223OMIM:146500Multiple system atrophy 1, susceptibility to54
HP:0004305HP:0004305Involuntary movements0COQ2 CL E G H2723525223ORPHA:227510Multiple system atrophy, cerebellar type54
HP:0004305HP:0004305Involuntary movements0COQ2 CL E G H2723525223ORPHA:98933Multiple system atrophy, parkinsonian type54
HP:0004305HP:0004305Involuntary movements0COQ5 CL E G H8427428722OMIM:619028COENZYME Q10 DEFICIENCY, PRIMARY, 9; COQ10D9
HP:0004305HP:0004305Involuntary movements0COQ8A CL E G H5699716812ORPHA:139485Autosomal recessive ataxia due to ubiquinone deficiency136
HP:0004305HP:0004305Involuntary movements0COQ8A CL E G H5699716812OMIM:612016Coenzyme Q10 deficiency, primary, 4136
HP:0004305HP:0004305Involuntary movements0COX1 CL E G H45127419ORPHA:104Leber hereditary optic neuropathy
HP:0004305HP:0004305Involuntary movements0COX1 CL E G H45127419ORPHA:550MELAS
HP:0004305HP:0004305Involuntary movements0COX2 CL E G H45137421ORPHA:550MELAS
HP:0004305HP:0004305Involuntary movements0COX20 CL E G H11622826970OMIM:619054MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 11; MC4DN1125
HP:0004305HP:0004305Involuntary movements0COX3 CL E G H45147422ORPHA:104Leber hereditary optic neuropathy
HP:0004305HP:0004305Involuntary movements0COX3 CL E G H45147422OMIM:535000Leber optic atrophy
HP:0004305HP:0004305Involuntary movements0COX3 CL E G H45147422ORPHA:550MELAS
HP:0004305HP:0004305Involuntary movements0COX4I1 CL E G H13272265OMIM:619060MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 16; MC4DN16
HP:0004305HP:0004305Involuntary movements0CP CL E G H13562295ORPHA:48818AceruloplasminemiaHP:0040282 - Frequent115
HP:0004305HP:0004305Involuntary movements0CP CL E G H13562295OMIM:604290ACERULOPLASMINEMIA115
HP:0004305HP:0004305Involuntary movements0CPLANE1 CL E G H6525025801ORPHA:475Joubert syndrome
HP:0004305HP:0004305Involuntary movements0CPLANE1 CL E G H6525025801ORPHA:65684Monomelic amyotrophy
HP:0004305HP:0004305Involuntary movements0CPLANE1 CL E G H6525025801ORPHA:2754Orofaciodigital syndrome type 6
HP:0004305HP:0004305Involuntary movements0CPLX1 CL E G H108152309ORPHA:352582Familial infantile myoclonic epilepsy1
HP:0004305HP:0004305Involuntary movements0CPLX1 CL E G H108152309OMIM:194190Wolf-Hirschhorn syndrome1
HP:0004305HP:0004305Involuntary movements0CRAT CL E G H13842342OMIM:617917Neurodegeneration with brain iron accumulation 8
HP:0004305HP:0004305Involuntary movements0CRB1 CL E G H234182343OMIM:613835Leber congenital amaurosis 8156
HP:0004305HP:0004305Involuntary movements0CREBBP CL E G H13872348ORPHA:353281Rubinstein-Taybi syndrome due to 16p13.3 microdeletion291
HP:0004305HP:0004305Involuntary movements0CREBBP CL E G H13872348ORPHA:353277Rubinstein-Taybi syndrome due to CREBBP mutations291
HP:0004305HP:0004305Involuntary movements0CRH CL E G H13922355ORPHA:98784Autosomal dominant nocturnal frontal lobe epilepsyHP:0040282 - Frequent1
HP:0004305HP:0004305Involuntary movements0CRKL CL E G H13992363ORPHA:261330Distal 22q11.2 microdeletion syndrome
HP:0004305HP:0004305Involuntary movements0CSPP1 CL E G H7984826193ORPHA:475Joubert syndrome57
HP:0004305HP:0004305Involuntary movements0CSTB CL E G H14762482OMIM:254800Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg)51
HP:0004305HP:0004305Involuntary movements0CSTB CL E G H14762482ORPHA:308Progressive myoclonic epilepsy type 151
HP:0004305HP:0004305Involuntary movements0CTBP1 CL E G H14872494OMIM:194190Wolf-Hirschhorn syndrome2
HP:0004305HP:0004305Involuntary movements0CTC1 CL E G H8016926169OMIM:612199Cerebroretinal microangiopathy with calcifications and cysts160
HP:0004305HP:0004305Involuntary movements0CTDP1 CL E G H91502498OMIM:604168Congenital cataracts, facial dysmorphism, and neuropathy17
HP:0004305HP:0004305Involuntary movements0CTDP1 CL E G H91502498ORPHA:48431Congenital cataracts-facial dysmorphism-neuropathy syndrome17
HP:0004305HP:0004305Involuntary movements0CTH CL E G H14912501ORPHA:212Cystathioninuria38
HP:0004305HP:0004305Involuntary movements0CTLA4 CL E G H14932505ORPHA:3162Sézary syndrome10
HP:0004305HP:0004305Involuntary movements0CTNND2 CL E G H15012516ORPHA:86814Benign adult familial myoclonic epilepsy15
HP:0004305HP:0004305Involuntary movements0CTSF CL E G H87222531OMIM:615362Ceroid lipofuscinosis, neuronal, 1320
HP:0004305HP:0004305Involuntary movements0CUL4B CL E G H84502555OMIM:300354Mental retardation, X-linked, syndromic, Cabezas type38
HP:0004305HP:0004305Involuntary movements0CUL4B CL E G H84502555ORPHA:85293X-linked intellectual disability, Cabezas type38
HP:0004305HP:0004305Involuntary movements0CUX2 CL E G H2331619347OMIM:618141Epileptic encephalopathy, early infantile, 67
HP:0004305HP:0004305Involuntary movements0CUX2 CL E G H2331619347ORPHA:2382Lennox-Gastaut syndrome
HP:0004305HP:0004305Involuntary movements0CWF19L1 CL E G H5528025613ORPHA:453521Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency9
HP:0004305HP:0004305Involuntary movements0CWF19L1 CL E G H5528025613OMIM:616127Spinocerebellar ataxia, autosomal recessive 179
HP:0004305HP:0004305Involuntary movements0CYB5A CL E G H15282570ORPHA:621Hereditary methemoglobinemia2
HP:0004305HP:0004305Involuntary movements0CYB5R3 CL E G H17272873ORPHA:621Hereditary methemoglobinemia24
HP:0004305HP:0004305Involuntary movements0CYFIP2 CL E G H2699913760ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional1
HP:0004305HP:0004305Involuntary movements0CYP27A1 CL E G H15932605ORPHA:909Cerebrotendinous xanthomatosis114
HP:0004305HP:0004305Involuntary movements0CYP27A1 CL E G H15932605OMIM:213700Cerebrotendinous xanthomatosis114
HP:0004305HP:0004305Involuntary movements0CYP7B1 CL E G H94202652ORPHA:100986Autosomal recessive spastic paraplegia type 5A57
HP:0004305HP:0004305Involuntary movements0CYP7B1 CL E G H94202652OMIM:270800Spastic paraplegia 5A, autosomal recessive57
HP:0004305HP:0004305Involuntary movements0CYTB CL E G H45197427ORPHA:104Leber hereditary optic neuropathy
HP:0004305HP:0004305Involuntary movements0CYTB CL E G H45197427OMIM:535000Leber optic atrophy
HP:0004305HP:0004305Involuntary movements0DAB1 CL E G H16002661OMIM:615945Spinocerebellar ataxia 374
HP:0004305HP:0004305Involuntary movements0DAB1 CL E G H16002661ORPHA:363710Spinocerebellar ataxia type 374
HP:0004305HP:0004305Involuntary movements0DALRD3 CL E G H5515225536ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional
HP:0004305HP:0004305Involuntary movements0DARS2 CL E G H5515725538ORPHA:137898Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome60
HP:0004305HP:0004305Involuntary movements0DARS2 CL E G H5515725538OMIM:611105Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation60
HP:0004305HP:0004305Involuntary movements0DCAF17 CL E G H8006725784OMIM:241080Woodhouse-Sakati syndrome87
HP:0004305HP:0004305Involuntary movements0DCAF17 CL E G H8006725784ORPHA:3464Woodhouse-Sakati syndrome87
HP:0004305HP:0004305Involuntary movements0DCC CL E G H16302701ORPHA:478Kallmann syndrome36
HP:0004305HP:0004305Involuntary movements0DCTN1 CL E G H16392711OMIM:105400Amyotrophic lateral sclerosis 186
HP:0004305HP:0004305Involuntary movements0DCTN1 CL E G H16392711ORPHA:178509Perry syndrome86
HP:0004305HP:0004305Involuntary movements0DCTN1 CL E G H16392711OMIM:168605Perry syndrome86
HP:0004305HP:0004305Involuntary movements0DDC CL E G H16442719OMIM:608643Aromatic L-amino acid decarboxylase deficiency43
HP:0004305HP:0004305Involuntary movements0DDOST CL E G H16502728ORPHA:300536DDOST-CDG62
HP:0004305HP:0004305Involuntary movements0DDX6 CL E G H16562747OMIM:618653INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES; IDDILF
HP:0004305HP:0004305Involuntary movements0DEAF1 CL E G H1052214677OMIM:617171Dyskinesia, seizures, and intellectual developmental disorder.33
HP:0004305HP:0004305Involuntary movements0DEAF1 CL E G H1052214677ORPHA:468620Intellectual disability-epilepsy-extrapyramidal syndromeHP:0040283 - Occasional33
HP:0004305HP:0004305Involuntary movements0DEAF1 CL E G H1052214677ORPHA:819Smith-Magenis syndrome33
HP:0004305HP:0004305Involuntary movements0DENND5A CL E G H2325819344OMIM:617281Epileptic encephalopathy, early infantile, 496
HP:0004305HP:0004305Involuntary movements0DEPDC5 CL E G H968118423ORPHA:98784Autosomal dominant nocturnal frontal lobe epilepsyHP:0040282 - Frequent172
HP:0004305HP:0004305Involuntary movements0DHDDS CL E G H7994720603OMIM:617836Developmental delay and seizures with or without movement abnormalities47
HP:0004305HP:0004305Involuntary movements0DHDDS CL E G H7994720603ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional47
HP:0004305HP:0004305Involuntary movements0DHFR CL E G H17192861OMIM:613839Megaloblastic anemia due to dihydrofolate reductase deficiency7
HP:0004305HP:0004305Involuntary movements0DHPS CL E G H17252869OMIM:618480Neurodevelopmental disorder with seizures and speech and walking impairment
HP:0004305HP:0004305Involuntary movements0DHX30 CL E G H2290716716OMIM:617804Neurodevelopmental disorder with severe motor impairment and absent language.4
HP:0004305HP:0004305Involuntary movements0DLAT CL E G H17372896OMIM:245348Pyruvate dehydrogenase E2 deficiency82
HP:0004305HP:0004305Involuntary movements0DLL1 CL E G H285142908OMIM:618709NEURODEVELOPMENTAL DISORDER WITH NONSPECIFIC BRAIN ABNORMALITIES AND WITH OR WITHOUT SEIZURES; NEDBAS3
HP:0004305HP:0004305Involuntary movements0DLST CL E G H17432911ORPHA:29072Hereditary pheochromocytoma-paraganglioma
HP:0004305HP:0004305Involuntary movements0DMXL2 CL E G H233122938ORPHA:1934Early infantile epileptic encephalopathy3
HP:0004305HP:0004305Involuntary movements0DNAJC13 CL E G H2331730343ORPHA:411602Hereditary late-onset Parkinson disease2
HP:0004305HP:0004305Involuntary movements0DNAJC19 CL E G H13111830528ORPHA:66634Dilated cardiomyopathy with ataxia25
HP:0004305HP:0004305Involuntary movements0DNAJC30 CL E G H8427716410ORPHA:104Leber hereditary optic neuropathy
HP:0004305HP:0004305Involuntary movements0DNAJC30 CL E G H8427716410ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0004305HP:0004305Involuntary movements0DNAJC5 CL E G H8033116235OMIM:162350Ceroid lipofuscinosis, neuronal, 4B, autosomal dominant155
HP:0004305HP:0004305Involuntary movements0DNAJC6 CL E G H982915469ORPHA:391411Atypical juvenile parkinsonismHP:0040282 - Frequent6
HP:0004305HP:0004305Involuntary movements0DNAJC6 CL E G H982915469OMIM:615528Parkinson disease 19a, juvenile-onset6
HP:0004305HP:0004305Involuntary movements0DNAJC6 CL E G H982915469ORPHA:2828Young-onset Parkinson disease6
HP:0004305HP:0004305Involuntary movements0DNM1 CL E G H17592972ORPHA:2382Lennox-Gastaut syndrome72
HP:0004305HP:0004305Involuntary movements0DNM1 CL E G H17592972ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional72
HP:0004305HP:0004305Involuntary movements0DNM1L CL E G H100592973ORPHA:330050DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect94
HP:0004305HP:0004305Involuntary movements0DNM1L CL E G H100592973OMIM:614388Encephalopathy due to defective mitochondrial and peroxisomal fission 194
HP:0004305HP:0004305Involuntary movements0DNMT1 CL E G H17862976ORPHA:314404Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome145
HP:0004305HP:0004305Involuntary movements0DNMT3A CL E G H17882978ORPHA:276621Sporadic pheochromocytoma/secreting paraganglioma44
HP:0004305HP:0004305Involuntary movements0DOCK7 CL E G H8544019190ORPHA:411986Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome11
HP:0004305HP:0004305Involuntary movements0DPAGT1 CL E G H17982995OMIM:608093Congenital disorder of glycosylation, type Ij38
HP:0004305HP:0004305Involuntary movements0DPAGT1 CL E G H17982995ORPHA:86309DPAGT1-CDG38
HP:0004305HP:0004305Involuntary movements0DPF2 CL E G H59779964OMIM:618027Coffin-Siris syndrome 7
HP:0004305HP:0004305Involuntary movements0DPM1 CL E G H88133005OMIM:608799Congenital disorder of glycosylation, type IE27
HP:0004305HP:0004305Involuntary movements0DPYSL5 CL E G H5689620637OMIM:619435RITSCHER-SCHINZEL SYNDROME 4; RTSC4
HP:0004305HP:0004305Involuntary movements0DRD2 CL E G H18133023ORPHA:36899Myoclonus-dystonia syndrome16
HP:0004305HP:0004305Involuntary movements0DRD3 CL E G H18143024OMIM:190300Tremor, hereditary essential, 121
HP:0004305HP:0004305Involuntary movements0DTYMK CL E G H18413061OMIM:619847
HP:0004305HP:0004305Involuntary movements0DUSP6 CL E G H18483072ORPHA:478Kallmann syndrome4
HP:0004305HP:0004305Involuntary movements0DYRK1A CL E G H18593091ORPHA:268261DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion134
HP:0004305HP:0004305Involuntary movements0DYRK1A CL E G H18593091ORPHA:464311Intellectual disability syndrome due to a DYRK1A point mutation134
HP:0004305HP:0004305Involuntary movements0DYRK1A CL E G H18593091OMIM:614104Mental retardation, autosomal dominant 7134
HP:0004305HP:0004305Involuntary movements0DYSF CL E G H82913097ORPHA:268Dysferlin-related limb-girdle muscular dystrophy R2600
HP:0004305HP:0004305Involuntary movements0EBF3 CL E G H25373819087OMIM:617330HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS25
HP:0004305HP:0004305Involuntary movements0EEF1A2 CL E G H19173192OMIM:616393Mental retardation, autosomal dominant 3860
HP:0004305HP:0004305Involuntary movements0EEF1A2 CL E G H19173192ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional60
HP:0004305HP:0004305Involuntary movements0EFHC1 CL E G H11432716406ORPHA:1941Juvenile absence epilepsy153
HP:0004305HP:0004305Involuntary movements0EFHC1 CL E G H11432716406ORPHA:307Juvenile myoclonic epilepsy153
HP:0004305HP:0004305Involuntary movements0EFHC1 CL E G H11432716406OMIM:254770Myoclonic epilepsy, juvenile, susceptibility to, 1153
HP:0004305HP:0004305Involuntary movements0EGR2 CL E G H19593239OMIM:145900Hypertrophic neuropathy of dejerine-sottas58
HP:0004305HP:0004305Involuntary movements0EHMT1 CL E G H7981324650OMIM:610253Kleefstra syndrome223
HP:0004305HP:0004305Involuntary movements0EIF2AK2 CL E G H56109437OMIM:618877LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME; LEUDEN
HP:0004305HP:0004305Involuntary movements0EIF4G1 CL E G H19813296ORPHA:411602Hereditary late-onset Parkinson disease2
HP:0004305HP:0004305Involuntary movements0EIF4G1 CL E G H19813296OMIM:614251Parkinson disease 182
HP:0004305HP:0004305Involuntary movements0EIF4H CL E G H745812741ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0004305HP:0004305Involuntary movements0ELN CL E G H20063327ORPHA:904Williams syndromeHP:0040281 - Very frequent172
HP:0004305HP:0004305Involuntary movements0ELOVL1 CL E G H6483414418OMIM:618527Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features
HP:0004305HP:0004305Involuntary movements0ELOVL4 CL E G H678514415OMIM:133190Spinocerebellar ataxia 3462
HP:0004305HP:0004305Involuntary movements0ELOVL5 CL E G H6048121308ORPHA:423296Spinocerebellar ataxia type 384
HP:0004305HP:0004305Involuntary movements0ELP2 CL E G H5525018248OMIM:617270Mental retardation, autosomal recessive 586
HP:0004305HP:0004305Involuntary movements0EMC10 CL E G H28436127609OMIM:619264NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND VARIABLE SEIZURES; NEDDFAS
HP:0004305HP:0004305Involuntary movements0EMILIN1 CL E G H1111719880OMIM:6200802
HP:0004305HP:0004305Involuntary movements0EP300 CL E G H20333373ORPHA:353284Rubinstein-Taybi syndrome due to EP300 haploinsufficiency250
HP:0004305HP:0004305Involuntary movements0EPAS1 CL E G H20343374ORPHA:276621Sporadic pheochromocytoma/secreting paraganglioma112
HP:0004305HP:0004305Involuntary movements0EPM2A CL E G H79573413ORPHA:501Lafora disease83
HP:0004305HP:0004305Involuntary movements0EPM2A CL E G H79573413OMIM:254780Myoclonic epilepsy of lafora83
HP:0004305HP:0004305Involuntary movements0EPRS1 CL E G H20583418OMIM:617951Leukodystrophy, hypomyelinating, 15
HP:0004305HP:0004305Involuntary movements0ERCC2 CL E G H20683434ORPHA:33364Trichothiodystrophy106
HP:0004305HP:0004305Involuntary movements0ERCC2 CL E G H20683434OMIM:278730Xeroderma pigmentosum, complementation group D106
HP:0004305HP:0004305Involuntary movements0ERCC3 CL E G H20713435ORPHA:33364Trichothiodystrophy54
HP:0004305HP:0004305Involuntary movements0ERCC4 CL E G H20723436ORPHA:90321Cockayne syndrome type 1158
HP:0004305HP:0004305Involuntary movements0ERCC4 CL E G H20723436OMIM:278760Xeroderma pigmentosum, complementation group F158
HP:0004305HP:0004305Involuntary movements0ERCC5 CL E G H20733437OMIM:278780Xeroderma pigmentosum, complementation group G83
HP:0004305HP:0004305Involuntary movements0ERCC6 CL E G H20743438ORPHA:90321Cockayne syndrome type 1199
HP:0004305HP:0004305Involuntary movements0ERCC6 CL E G H20743438ORPHA:90324Cockayne syndrome type 3199
HP:0004305HP:0004305Involuntary movements0ERCC6 CL E G H20743438OMIM:133540Cockayne syndrome, type B199
HP:0004305HP:0004305Involuntary movements0ERCC6 CL E G H20743438OMIM:278800De Sanctis-Cacchione syndrome199
HP:0004305HP:0004305Involuntary movements0ERCC8 CL E G H11613439OMIM:216400Cockayne syndrome A55
HP:0004305HP:0004305Involuntary movements0ERCC8 CL E G H11613439ORPHA:90321Cockayne syndrome type 155
HP:0004305HP:0004305Involuntary movements0ERCC8 CL E G H11613439ORPHA:90324Cockayne syndrome type 355
HP:0004305HP:0004305Involuntary movements0ERGIC1 CL E G H5722229205ORPHA:1143Neurogenic arthrogryposis multiplex congenita
HP:0004305HP:0004305Involuntary movements0ERLIN1 CL E G H1061316947ORPHA:401785Autosomal recessive spastic paraplegia type 622
HP:0004305HP:0004305Involuntary movements0ERLIN1 CL E G H1061316947OMIM:615681Spastic paraplegia 62, autosomal recessive2
HP:0004305HP:0004305Involuntary movements0ERLIN2 CL E G H111601356ORPHA:209951Autosomal recessive spastic paraplegia type 1818
HP:0004305HP:0004305Involuntary movements0ERLIN2 CL E G H111601356ORPHA:280384Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome18
HP:0004305HP:0004305Involuntary movements0EXOSC3 CL E G H5101017944ORPHA:2254Pontocerebellar hypoplasia type 138
HP:0004305HP:0004305Involuntary movements0EXOSC3 CL E G H5101017944OMIM:614678Pontocerebellar hypoplasia, type 1B38
HP:0004305HP:0004305Involuntary movements0EXOSC8 CL E G H1134017035ORPHA:2254Pontocerebellar hypoplasia type 14
HP:0004305HP:0004305Involuntary movements0EXOSC8 CL E G H1134017035OMIM:616081Pontocerebellar hypoplasia, type 1C4
HP:0004305HP:0004305Involuntary movements0EXOSC9 CL E G H53939137ORPHA:2254Pontocerebellar hypoplasia type 1
HP:0004305HP:0004305Involuntary movements0EXOSC9 CL E G H53939137OMIM:618065Pontocerebellar hypoplasia, type 1D
HP:0004305HP:0004305Involuntary movements0EXT2 CL E G H21323513OMIM:616682Seizures, scoliosis, and macrocephaly/microcephaly syndrome102
HP:0004305HP:0004305Involuntary movements0EXTL3 CL E G H21373518ORPHA:508533Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome3
HP:0004305HP:0004305Involuntary movements0FA2H CL E G H7915221197ORPHA:171629Autosomal recessive spastic paraplegia type 3576
HP:0004305HP:0004305Involuntary movements0FA2H CL E G H7915221197OMIM:612319Spastic paraplegia 35, autosomal recessive76
HP:0004305HP:0004305Involuntary movements0FAM149B1 CL E G H31766229162ORPHA:2754Orofaciodigital syndrome type 6
HP:0004305HP:0004305Involuntary movements0FAR1 CL E G H8418826222ORPHA:447753Autosomal dominant spastic paraplegia type 9A7
HP:0004305HP:0004305Involuntary movements0FARS2 CL E G H1066721062ORPHA:466722Autosomal recessive spastic paraplegia type 7736
HP:0004305HP:0004305Involuntary movements0FARS2 CL E G H1066721062OMIM:614946Combined oxidative phosphorylation deficiency 1436
HP:0004305HP:0004305Involuntary movements0FBXL4 CL E G H2623513601OMIM:615471Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)384
HP:0004305HP:0004305Involuntary movements0FBXO28 CL E G H2321929046OMIM:619777DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100
HP:0004305HP:0004305Involuntary movements0FBXO38 CL E G H8154528844OMIM:615575Neuronopathy, distal hereditary motor, type IID1
HP:0004305HP:0004305Involuntary movements0FBXO7 CL E G H2579313586OMIM:260300Parkinson disease 15, autosomal recessive early-onset36
HP:0004305HP:0004305Involuntary movements0FBXO7 CL E G H2579313586ORPHA:171695Parkinsonian-pyramidal syndrome36
HP:0004305HP:0004305Involuntary movements0FBXW11 CL E G H2329113607OMIM:618914NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME; NEDJED
HP:0004305HP:0004305Involuntary movements0FEZF1 CL E G H38954922788ORPHA:478Kallmann syndrome2
HP:0004305HP:0004305Involuntary movements0FGF12 CL E G H22573668ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional3
HP:0004305HP:0004305Involuntary movements0FGF13 CL E G H22583670OMIM:301058DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 90; DEE901
HP:0004305HP:0004305Involuntary movements0FGF13 CL E G H22583670ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional1
HP:0004305HP:0004305Involuntary movements0FGF14 CL E G H22593671OMIM:193003Nystagmus 4, congenital, autosomal dominant47
HP:0004305HP:0004305Involuntary movements0FGF14 CL E G H22593671ORPHA:98764Spinocerebellar ataxia type 2747
HP:0004305HP:0004305Involuntary movements0FGF17 CL E G H88223673ORPHA:478Kallmann syndrome3
HP:0004305HP:0004305Involuntary movements0FGF8 CL E G H22533686ORPHA:478Kallmann syndrome17
HP:0004305HP:0004305Involuntary movements0FGFR1 CL E G H22603688ORPHA:478Kallmann syndrome172
HP:0004305HP:0004305Involuntary movements0FGFRL1 CL E G H538343693OMIM:194190Wolf-Hirschhorn syndrome
HP:0004305HP:0004305Involuntary movements0FH CL E G H22713700ORPHA:29072Hereditary pheochromocytoma-paraganglioma301
HP:0004305HP:0004305Involuntary movements0FKBP6 CL E G H84683722ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0004305HP:0004305Involuntary movements0FKRP CL E G H7914717997ORPHA:370959Congenital muscular dystrophy with cerebellar involvement157
HP:0004305HP:0004305Involuntary movements0FLCN CL E G H20116327310OMIM:610883Potocki-Lupski syndrome332
HP:0004305HP:0004305Involuntary movements0FLII CL E G H23143750ORPHA:819Smith-Magenis syndrome
HP:0004305HP:0004305Involuntary movements0FLRT3 CL E G H237673762ORPHA:478Kallmann syndrome4
HP:0004305HP:0004305Involuntary movements0FLVCR1 CL E G H2898224682ORPHA:88628Posterior column ataxia-retinitis pigmentosa syndrome111
HP:0004305HP:0004305Involuntary movements0FMR1 CL E G H23323775OMIM:300624Fragile X mental retardation syndrome30
HP:0004305HP:0004305Involuntary movements0FMR1 CL E G H23323775OMIM:300623Fragile X tremor/ataxia syndrome30
HP:0004305HP:0004305Involuntary movements0FMR1 CL E G H23323775ORPHA:93256Fragile X-associated tremor/ataxia syndrome30
HP:0004305HP:0004305Involuntary movements0FMR1 CL E G H23323775ORPHA:449291Symptomatic form of fragile X syndrome in female carriers30
HP:0004305HP:0004305Involuntary movements0FOXG1 CL E G H22903811ORPHA:261144FOXG1 syndrome due to 14q12 microdeletion177
HP:0004305HP:0004305Involuntary movements0FOXG1 CL E G H22903811OMIM:613454Rett syndrome, congenital variant177
HP:0004305HP:0004305Involuntary movements0FOXP1 CL E G H270863823ORPHA:391372Intellectual disability-severe speech delay-mild dysmorphism syndrome184
HP:0004305HP:0004305Involuntary movements0FOXP1 CL E G H270863823OMIM:613670Mental retardation with language impairment and with or without autistic features184
HP:0004305HP:0004305Involuntary movements0FOXRED1 CL E G H5557226927OMIM:618241Mitochondrial complex I deficiency, nuclear type 1961
HP:0004305HP:0004305Involuntary movements0FRMD5 CL E G H8497828214OMIM:620094
HP:0004305HP:0004305Involuntary movements0FRMPD4 CL E G H975829007OMIM:300983MENTAL RETARDATION, X-LINKED 104; MRX10432
HP:0004305HP:0004305Involuntary movements0FRRS1L CL E G H237321362OMIM:616981Epileptic encephalopathy, early infantile, 374
HP:0004305HP:0004305Involuntary movements0FTL CL E G H25123999OMIM:606159Neurodegeneration with brain iron accumulation 333
HP:0004305HP:0004305Involuntary movements0FTL CL E G H25123999ORPHA:157846NeuroferritinopathyHP:0040282 - Frequent33
HP:0004305HP:0004305Involuntary movements0FUS CL E G H25214010OMIM:608030Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia105
HP:0004305HP:0004305Involuntary movements0FUS CL E G H25214010ORPHA:275872Frontotemporal dementia with motor neuron disease105
HP:0004305HP:0004305Involuntary movements0FUS CL E G H25214010ORPHA:300605Juvenile amyotrophic lateral sclerosis105
HP:0004305HP:0004305Involuntary movements0FUS CL E G H25214010OMIM:614782TREMOR, HEREDITARY ESSENTIAL, 4; ETM4105
HP:0004305HP:0004305Involuntary movements0FXN CL E G H23953951ORPHA:95Friedreich ataxia18
HP:0004305HP:0004305Involuntary movements0FXR1 CL E G H80874023OMIM:618823MYOPATHY, CONGENITAL PROXIMAL, WITH MINICORE LESIONS; MYOPMIL
HP:0004305HP:0004305Involuntary movements0FXR1 CL E G H80874023OMIM:618822MYOPATHY, CONGENITAL, WITH RESPIRATORY INSUFFICIENCY AND BONE FRACTURES; MYORIBF
HP:0004305HP:0004305Involuntary movements0FZR1 CL E G H5134324824ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional
HP:0004305HP:0004305Involuntary movements0GABBR2 CL E G H95684507ORPHA:3095Atypical Rett syndromeHP:0040281 - Very frequent5
HP:0004305HP:0004305Involuntary movements0GABBR2 CL E G H95684507ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional5
HP:0004305HP:0004305Involuntary movements0GABRA1 CL E G H25544075ORPHA:64280Childhood absence epilepsy134
HP:0004305HP:0004305Involuntary movements0GABRA1 CL E G H25544075ORPHA:33069Dravet syndrome134
HP:0004305HP:0004305Involuntary movements0GABRA1 CL E G H25544075ORPHA:307Juvenile myoclonic epilepsy134
HP:0004305HP:0004305Involuntary movements0GABRA2 CL E G H25554076OMIM:618557DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 78; DEE784
HP:0004305HP:0004305Involuntary movements0GABRA2 CL E G H25554076ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional4
HP:0004305HP:0004305Involuntary movements0GABRA3 CL E G H25564077ORPHA:79102Thyrotoxic periodic paralysis
HP:0004305HP:0004305Involuntary movements0GABRA5 CL E G H25584079ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional
HP:0004305HP:0004305Involuntary movements0GABRB2 CL E G H25614082OMIM:617829Epileptic encephalopathy, infantile or early childhood, 244
HP:0004305HP:0004305Involuntary movements0GABRB2 CL E G H25614082ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional44
HP:0004305HP:0004305Involuntary movements0GABRB3 CL E G H25624083ORPHA:64280Childhood absence epilepsy57
HP:0004305HP:0004305Involuntary movements0GABRB3 CL E G H25624083ORPHA:2382Lennox-Gastaut syndrome57
HP:0004305HP:0004305Involuntary movements0GABRD CL E G H25634084ORPHA:16061p36 deletion syndrome10
HP:0004305HP:0004305Involuntary movements0GABRD CL E G H25634084ORPHA:36387Generalized epilepsy with febrile seizures-plus10
HP:0004305HP:0004305Involuntary movements0GABRD CL E G H25634084ORPHA:307Juvenile myoclonic epilepsy10
HP:0004305HP:0004305Involuntary movements0GABRG2 CL E G H25664087ORPHA:64280Childhood absence epilepsy139
HP:0004305HP:0004305Involuntary movements0GABRG2 CL E G H25664087ORPHA:33069Dravet syndrome139
HP:0004305HP:0004305Involuntary movements0GABRG2 CL E G H25664087ORPHA:36387Generalized epilepsy with febrile seizures-plus139
HP:0004305HP:0004305Involuntary movements0GABRG2 CL E G H25664087ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional139
HP:0004305HP:0004305Involuntary movements0GALC CL E G H25814115ORPHA:206436Infantile Krabbe disease160
HP:0004305HP:0004305Involuntary movements0GALC CL E G H25814115ORPHA:206443Late-infantile/juvenile Krabbe disease160
HP:0004305HP:0004305Involuntary movements0GALT CL E G H25924135ORPHA:79239Classic galactosemia351
HP:0004305HP:0004305Involuntary movements0GAMT CL E G H25934136OMIM:612736Cerebral creatine deficiency syndrome 291
HP:0004305HP:0004305Involuntary movements0GAMT CL E G H25934136ORPHA:382Guanidinoacetate methyltransferase deficiency91
HP:0004305HP:0004305Involuntary movements0GATAD2B CL E G H5745930778OMIM:615074Mental retardation, autosomal dominant 1833
HP:0004305HP:0004305Involuntary movements0GATAD2B CL E G H5745930778ORPHA:363686Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome33
HP:0004305HP:0004305Involuntary movements0GBA1 CL E G H26294177OMIM:231000Gaucher disease, type III
HP:0004305HP:0004305Involuntary movements0GBA1 CL E G H26294177ORPHA:411602Hereditary late-onset Parkinson disease
HP:0004305HP:0004305Involuntary movements0GBA1 CL E G H26294177OMIM:168600Parkinson disease, late-onset
HP:0004305HP:0004305Involuntary movements0GBA2 CL E G H5770418986ORPHA:352641Autosomal recessive cerebellar ataxia with late-onset spasticity30
HP:0004305HP:0004305Involuntary movements0GBA2 CL E G H5770418986ORPHA:320391Autosomal recessive spastic paraplegia type 4630
HP:0004305HP:0004305Involuntary movements0GBA2 CL E G H5770418986OMIM:614409Spastic paraplegia 46, autosomal recessive30
HP:0004305HP:0004305Involuntary movements0GCDH CL E G H26394189OMIM:231670Glutaric acidemia I115
HP:0004305HP:0004305Involuntary movements0GCDH CL E G H26394189ORPHA:25Glutaryl-CoA dehydrogenase deficiency115
HP:0004305HP:0004305Involuntary movements0GCH1 CL E G H26434193ORPHA:98808Autosomal dominant dopa-responsive dystonia86
HP:0004305HP:0004305Involuntary movements0GCH1 CL E G H26434193OMIM:128230Dystonia, DOPA-responsive, with or without hyperphenylalaninemia86
HP:0004305HP:0004305Involuntary movements0GCH1 CL E G H26434193OMIM:233910Hyperphenylalaninemia, BH4-deficient, B86
HP:0004305HP:0004305Involuntary movements0GCK CL E G H26454195ORPHA:79299Hyperinsulinism due to glucokinase deficiency237
HP:0004305HP:0004305Involuntary movements0GCSH CL E G H26534208OMIM:605899Glycine encephalopathy5
HP:0004305HP:0004305Involuntary movements0GFAP CL E G H26704235OMIM:203450Alexander disease188
HP:0004305HP:0004305Involuntary movements0GFAP CL E G H26704235ORPHA:363717Alexander disease type I188
HP:0004305HP:0004305Involuntary movements0GFAP CL E G H26704235ORPHA:363722Alexander disease type II188
HP:0004305HP:0004305Involuntary movements0GFM2 CL E G H8434029682ORPHA:565624Combined oxidative phosphorylation defect type 39HP:0040283 - Occasional43
HP:0004305HP:0004305Involuntary movements0GFM2 CL E G H8434029682OMIM:618397Combined oxidative phosphorylation deficiency 39.43
HP:0004305HP:0004305Involuntary movements0GGT1 CL E G H26784250OMIM:231950GLUTATHIONURIA
HP:0004305HP:0004305Involuntary movements0GIGYF2 CL E G H2605811960ORPHA:411602Hereditary late-onset Parkinson disease8
HP:0004305HP:0004305Involuntary movements0GIGYF2 CL E G H2605811960OMIM:607688PARKINSON DISEASE 11, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO; PARK118
HP:0004305HP:0004305Involuntary movements0GJA5 CL E G H27024279OMIM:612474Chromosome 1q21.1 deletion syndrome, 1.35-mb39
HP:0004305HP:0004305Involuntary movements0GJA8 CL E G H27034281OMIM:612474Chromosome 1q21.1 deletion syndrome, 1.35-mb34
HP:0004305HP:0004305Involuntary movements0GJB1 CL E G H27054283OMIM:302800Charcot-Marie-Tooth neuropathy, X-linked dominant, 1107
HP:0004305HP:0004305Involuntary movements0GJB1 CL E G H27054283ORPHA:101075X-linked Charcot-Marie-Tooth disease type 1107
HP:0004305HP:0004305Involuntary movements0GJB1 CL E G H27054283ORPHA:1175X-linked progressive cerebellar ataxia107
HP:0004305HP:0004305Involuntary movements0GJC2 CL E G H5716517494OMIM:608804Leukodystrophy, hypomyelinating, 237
HP:0004305HP:0004305Involuntary movements0GJC2 CL E G H5716517494OMIM:613206Spastic paraplegia 44, autosomal recessive37
HP:0004305HP:0004305Involuntary movements0GLA CL E G H27174296OMIM:301500Fabry disease291
HP:0004305HP:0004305Involuntary movements0GLDC CL E G H27314313OMIM:605899Glycine encephalopathy166
HP:0004305HP:0004305Involuntary movements0GLRA1 CL E G H27414326ORPHA:3197Hereditary hyperekplexia63
HP:0004305HP:0004305Involuntary movements0GLRA1 CL E G H27414326OMIM:149400Hyperekplexia 163
HP:0004305HP:0004305Involuntary movements0GLRB CL E G H27434329ORPHA:3197Hereditary hyperekplexia46
HP:0004305HP:0004305Involuntary movements0GLRB CL E G H27434329OMIM:614619Hyperekplexia 246
HP:0004305HP:0004305Involuntary movements0GLRX5 CL E G H5121820134ORPHA:401866Childhood-onset spasticity with hyperglycinemia17
HP:0004305HP:0004305Involuntary movements0GLUD2 CL E G H27474336OMIM:168600Parkinson disease, late-onset1
HP:0004305HP:0004305Involuntary movements0GLYCTK CL E G H13215824247OMIM:220120D-GLYCERIC ACIDURIA6
HP:0004305HP:0004305Involuntary movements0GLYCTK CL E G H13215824247ORPHA:941D-glyceric aciduria6
HP:0004305HP:0004305Involuntary movements0GM2A CL E G H27604367ORPHA:309246GM2 gangliosidosis, AB variant69
HP:0004305HP:0004305Involuntary movements0GM2A CL E G H27604367OMIM:272750Gm2-Gangliosidosis, ab variant69
HP:0004305HP:0004305Involuntary movements0GMPPB CL E G H2992522932ORPHA:370959Congenital muscular dystrophy with cerebellar involvement34
HP:0004305HP:0004305Involuntary movements0GNA11 CL E G H27674379ORPHA:428Autosomal dominant hypocalcemia16
HP:0004305HP:0004305Involuntary movements0GNAI1 CL E G H27704384OMIM:619854
HP:0004305HP:0004305Involuntary movements0GNAO1 CL E G H27754389ORPHA:1934Early infantile epileptic encephalopathy36
HP:0004305HP:0004305Involuntary movements0GNAO1 CL E G H27754389OMIM:615473Epileptic encephalopathy, early infantile, 1736
HP:0004305HP:0004305Involuntary movements0GNAO1 CL E G H27754389OMIM:617493Neurodevelopmental disorder with involuntary movements.36
HP:0004305HP:0004305Involuntary movements0GNAS CL E G H27784392ORPHA:79443Pseudohypoparathyroidism type 1AHP:0040283 - Occasional101
HP:0004305HP:0004305Involuntary movements0GNAS CL E G H27784392ORPHA:94089Pseudohypoparathyroidism type 1B101
HP:0004305HP:0004305Involuntary movements0GNAS CL E G H27784392ORPHA:79444Pseudohypoparathyroidism type 1C101
HP:0004305HP:0004305Involuntary movements0GNB1 CL E G H27824396OMIM:616973Mental retardation, autosomal dominant 4212
HP:0004305HP:0004305Involuntary movements0GNB2 CL E G H27834398OMIM:619503NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0004305HP:0004305Involuntary movements0GON7 CL E G H8452020356OMIM:619603GALLOWAY-MOWAT SYNDROME 9; GAMOS9
HP:0004305HP:0004305Involuntary movements0GOSR2 CL E G H95704431OMIM:614018Epilepsy, progressive myoclonic, 688
HP:0004305HP:0004305Involuntary movements0GPAA1 CL E G H87334446OMIM:617810GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15; GPIBD15
HP:0004305HP:0004305Involuntary movements0GPAA1 CL E G H87334446ORPHA:529665Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome
HP:0004305HP:0004305Involuntary movements0GPHN CL E G H1024315465ORPHA:3197Hereditary hyperekplexia18
HP:0004305HP:0004305Involuntary movements0GPHN CL E G H1024315465OMIM:149400Hyperekplexia 118
HP:0004305HP:0004305Involuntary movements0GPR88 CL E G H541124539OMIM:616939Chorea, childhood-onset, with psychomotor retardation1
HP:0004305HP:0004305Involuntary movements0GPT2 CL E G H8470618062ORPHA:477673Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome4
HP:0004305HP:0004305Involuntary movements0GRIA1 CL E G H28904571OMIM:6199273
HP:0004305HP:0004305Involuntary movements0GRIA2 CL E G H28914572OMIM:618917NEURODEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND BEHAVIORAL ABNORMALITIES; NEDLIB1
HP:0004305HP:0004305Involuntary movements0GRIA3 CL E G H28924573OMIM:300699Mental retardation, X-linked 9430
HP:0004305HP:0004305Involuntary movements0GRIA3 CL E G H28924573ORPHA:364028X-linked intellectual disability due to GRIA3 mutations30
HP:0004305HP:0004305Involuntary movements0GRIA4 CL E G H28934574OMIM:617864Neurodevelopmental disorder with or without seizures and gait abnormalities
HP:0004305HP:0004305Involuntary movements0GRIK2 CL E G H28984580OMIM:611092Mental retardation, autosomal recessive 6HP:0040283 - Occasional32
HP:0004305HP:0004305Involuntary movements0GRIK2 CL E G H28984580OMIM:619580NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND ATAXIA AND WITH OR WITHOUT SEIZURES; NEDLAS32
HP:0004305HP:0004305Involuntary movements0GRIN1 CL E G H29024584ORPHA:208447Bilateral generalized polymicrogyria108
HP:0004305HP:0004305Involuntary movements0GRIN1 CL E G H29024584OMIM:619814DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 101; DEE101108
HP:0004305HP:0004305Involuntary movements0GRIN1 CL E G H29024584ORPHA:1934Early infantile epileptic encephalopathy108
HP:0004305HP:0004305Involuntary movements0GRIN1 CL E G H29024584OMIM:614254Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant108
HP:0004305HP:0004305Involuntary movements0GRIN1 CL E G H29024584OMIM:617820Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive.108
HP:0004305HP:0004305Involuntary movements0GRIN2A CL E G H29034585ORPHA:289266Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation434
HP:0004305HP:0004305Involuntary movements0GRIN2B CL E G H29044586OMIM:616139Epileptic encephalopathy, early infantile, 27274
HP:0004305HP:0004305Involuntary movements0GRIN2B CL E G H29044586ORPHA:3451Infantile spasms syndrome274
HP:0004305HP:0004305Involuntary movements0GRIN2B CL E G H29044586OMIM:613970Mental retardation, autosomal dominant 6, with or without seizures274
HP:0004305HP:0004305Involuntary movements0GRIN2D CL E G H29064588ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional2
HP:0004305HP:0004305Involuntary movements0GRM1 CL E G H29114593OMIM:614831SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13; SCAR138
HP:0004305HP:0004305Involuntary movements0GRM7 CL E G H29174599ORPHA:1934Early infantile epileptic encephalopathy5
HP:0004305HP:0004305Involuntary movements0GRN CL E G H28964601ORPHA:275864Behavioral variant of frontotemporal dementia126
HP:0004305HP:0004305Involuntary movements0GRN CL E G H28964601OMIM:607485Frontotemporal lobar degeneration with TDP43 inclusions126
HP:0004305HP:0004305Involuntary movements0GSS CL E G H29374624OMIM:266130Glutathione synthetase deficiency39
HP:0004305HP:0004305Involuntary movements0GTF2E2 CL E G H29614651ORPHA:33364Trichothiodystrophy2
HP:0004305HP:0004305Involuntary movements0GTF2H5 CL E G H40467221157ORPHA:33364Trichothiodystrophy3
HP:0004305HP:0004305Involuntary movements0GTF2I CL E G H29694659ORPHA:904Williams syndromeHP:0040281 - Very frequent1
HP:0004305HP:0004305Involuntary movements0GTF2IRD1 CL E G H95694661ORPHA:904Williams syndromeHP:0040281 - Very frequent1
HP:0004305HP:0004305Involuntary movements0GTF2IRD2 CL E G H8416330775ORPHA:904Williams syndromeHP:0040281 - Very frequent1
HP:0004305HP:0004305Involuntary movements0GTPBP2 CL E G H546764670OMIM:617988Jaberi-Elahi syndrome
HP:0004305HP:0004305Involuntary movements0GUCY2D CL E G H30004689OMIM:204000Leber congenital amaurosis, type I124
HP:0004305HP:0004305Involuntary movements0GUF1 CL E G H6055825799OMIM:617065Epileptic encephalopathy, early infantile, 402
HP:0004305HP:0004305Involuntary movements0GUF1 CL E G H6055825799ORPHA:3451Infantile spasms syndrome2
HP:0004305HP:0004305Involuntary movements0H4C5 CL E G H83674790OMIM:619950
HP:0004305HP:0004305Involuntary movements0HCFC1 CL E G H30544839OMIM:309541Methylmalonic acidemia and homocysteinemia, Cblx type100
HP:0004305HP:0004305Involuntary movements0HCN1 CL E G H3489804845ORPHA:36387Generalized epilepsy with febrile seizures-plus54
HP:0004305HP:0004305Involuntary movements0HCN1 CL E G H3489804845ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional54
HP:0004305HP:0004305Involuntary movements0HDAC4 CL E G H975914063ORPHA:10012q37 microdeletion syndrome33
HP:0004305HP:0004305Involuntary movements0HDC CL E G H30674855OMIM:137580Gilles de la tourette syndrome1
HP:0004305HP:0004305Involuntary movements0HECW2 CL E G H5752029853OMIM:617268Neurodevelopmental disorder with hypotonia, seizures, and absent language11
HP:0004305HP:0004305Involuntary movements0HERC2 CL E G H89244868OMIM:615516Mental retardation, autosomal recessive 3838
HP:0004305HP:0004305Involuntary movements0HESX1 CL E G H88204877ORPHA:478Kallmann syndrome21
HP:0004305HP:0004305Involuntary movements0HEXB CL E G H30744879OMIM:268800Sandhoff disease80
HP:0004305HP:0004305Involuntary movements0HEXB CL E G H30744879ORPHA:309169Sandhoff disease, adult form80
HP:0004305HP:0004305Involuntary movements0HEXB CL E G H30744879ORPHA:309155Sandhoff disease, infantile form80
HP:0004305HP:0004305Involuntary movements0HEXB CL E G H30744879ORPHA:309162Sandhoff disease, juvenile form80
HP:0004305HP:0004305Involuntary movements0HIBCH CL E G H262754908OMIM:2506203-Hydroxyisobutyryl-Coa hydrolase deficiency32
HP:0004305HP:0004305Involuntary movements0HIBCH CL E G H262754908ORPHA:88639Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency32
HP:0004305HP:0004305Involuntary movements0HIKESHI CL E G H5150126938OMIM:616881Leukodystrophy, hypomyelinating, 133
HP:0004305HP:0004305Involuntary movements0HINT1 CL E G H30944912ORPHA:324442Autosomal recessive axonal neuropathy with neuromyotonia12
HP:0004305HP:0004305Involuntary movements0HINT1 CL E G H30944912OMIM:137200Neuromyotonia and axonal neuropathy, autosomal recessive12
HP:0004305HP:0004305Involuntary movements0HLA-DQB1 CL E G H31194944OMIM:123400Creutzfeldt-Jakob disease
HP:0004305HP:0004305Involuntary movements0HMBS CL E G H31454982ORPHA:79276Acute intermittent porphyria81
HP:0004305HP:0004305Involuntary movements0HMGA2 CL E G H80915009ORPHA:9406312q14 microdeletion syndrome2
HP:0004305HP:0004305Involuntary movements0HMGCL CL E G H31555005ORPHA:203-hydroxy-3-methylglutaric aciduria35
HP:0004305HP:0004305Involuntary movements0HMGCL CL E G H31555005OMIM:2464503-Hydroxy-3-Methylglutaryl-Coa lyase deficiency35
HP:0004305HP:0004305Involuntary movements0HNF4A CL E G H31725024ORPHA:263455Hyperinsulinism due to HNF4A deficiency138
HP:0004305HP:0004305Involuntary movements0HNRNPA1 CL E G H31785031ORPHA:52430Inclusion body myopathy with Paget disease of bone and frontotemporal dementia31
HP:0004305HP:0004305Involuntary movements0HNRNPA2B1 CL E G H31815033ORPHA:52430Inclusion body myopathy with Paget disease of bone and frontotemporal dementia5
HP:0004305HP:0004305Involuntary movements0HNRNPH2 CL E G H31885042OMIM:300986MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE; MRXSB3
HP:0004305HP:0004305Involuntary movements0HNRNPR CL E G H102365047OMIM:620073
HP:0004305HP:0004305Involuntary movements0HNRNPU CL E G H31925048OMIM:617391Epileptic encephalopathy, early infantile, 5439
HP:0004305HP:0004305Involuntary movements0HPCA CL E G H32085144OMIM:224500Dystonia 2, torsion, autosomal recessive4
HP:0004305HP:0004305Involuntary movements0HPCA CL E G H32085144ORPHA:99657Primary dystonia, DYT2 typeHP:0040282 - Frequent4
HP:0004305HP:0004305Involuntary movements0HPRT1 CL E G H32515157OMIM:300322Lesch-Nyhan syndrome76
HP:0004305HP:0004305Involuntary movements0HS6ST1 CL E G H93945201ORPHA:478Kallmann syndrome8
HP:0004305HP:0004305Involuntary movements0HSD17B10 CL E G H30284800ORPHA:391428HSD10 disease, infantile type19
HP:0004305HP:0004305Involuntary movements0HSD17B10 CL E G H30284800OMIM:300438HSD10 mitochondrial disease19
HP:0004305HP:0004305Involuntary movements0HSD17B4 CL E G H32955213OMIM:233400Perrault syndrome 198
HP:0004305HP:0004305Involuntary movements0HSPB1 CL E G H33155246ORPHA:99940Autosomal dominant Charcot-Marie-Tooth disease type 2F47
HP:0004305HP:0004305Involuntary movements0HSPB1 CL E G H33155246OMIM:606595Charcot-Marie-Tooth disease, axonal, type 2F47
HP:0004305HP:0004305Involuntary movements0HSPD1 CL E G H33295261OMIM:612233Leukodystrophy, hypomyelinating, 446
HP:0004305HP:0004305Involuntary movements0HSPG2 CL E G H33395273ORPHA:16061p36 deletion syndrome345
HP:0004305HP:0004305Involuntary movements0HTRA2 CL E G H2742914348OMIM:6172483-methylglutaconic aciduria, type VIII39
HP:0004305HP:0004305Involuntary movements0HTRA2 CL E G H2742914348OMIM:610297PARKINSON DISEASE 13, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO; PARK1339
HP:0004305HP:0004305Involuntary movements0HTRA2 CL E G H2742914348ORPHA:2828Young-onset Parkinson disease39
HP:0004305HP:0004305Involuntary movements0HTT CL E G H30644851OMIM:143100Huntington disease12
HP:0004305HP:0004305Involuntary movements0HTT CL E G H30644851ORPHA:399Huntington diseaseHP:0040282 - Frequent12
HP:0004305HP:0004305Involuntary movements0HTT CL E G H30644851ORPHA:248111Juvenile Huntington disease12
HP:0004305HP:0004305Involuntary movements0HTT CL E G H30644851OMIM:617435Lopes-Maciel-Rodan syndrome12
HP:0004305HP:0004305Involuntary movements0HUWE1 CL E G H1007530892OMIM:309590Mental retardation, x-linked syndromic, Turner type98
HP:0004305HP:0004305Involuntary movements0HYCC1 CL E G H8466824587OMIM:610532Leukodystrophy, hypomyelinating, 5
HP:0004305HP:0004305Involuntary movements0HYLS1 CL E G H21984426558ORPHA:475Joubert syndrome31
HP:0004305HP:0004305Involuntary movements0IFIH1 CL E G H6413518873ORPHA:51Aicardi-Goutières syndrome28
HP:0004305HP:0004305Involuntary movements0IFNG CL E G H34585438ORPHA:805Tuberous sclerosis complex23
HP:0004305HP:0004305Involuntary movements0IFRD1 CL E G H34755456ORPHA:98771Spinocerebellar ataxia type 181
HP:0004305HP:0004305Involuntary movements0IL17RD CL E G H5475617616ORPHA:478Kallmann syndrome9
HP:0004305HP:0004305Involuntary movements0IMPDH2 CL E G H36156053ORPHA:98808Autosomal dominant dopa-responsive dystonia1
HP:0004305HP:0004305Involuntary movements0INPP5E CL E G H5662321474ORPHA:475Joubert syndrome111
HP:0004305HP:0004305Involuntary movements0INPP5E CL E G H5662321474OMIM:213300Joubert syndrome 1111
HP:0004305HP:0004305Involuntary movements0INPP5E CL E G H5662321474ORPHA:1454Joubert syndrome with hepatic defect111
HP:0004305HP:0004305Involuntary movements0INPP5E CL E G H5662321474ORPHA:220493Joubert syndrome with ocular defect111
HP:0004305HP:0004305Involuntary movements0IQSEC2 CL E G H2309629059ORPHA:397933Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome119
HP:0004305HP:0004305Involuntary movements0IQSEC2 CL E G H2309629059ORPHA:819Smith-Magenis syndrome119
HP:0004305HP:0004305Involuntary movements0IREB2 CL E G H36586115OMIM:618451Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia
HP:0004305HP:0004305Involuntary movements0IRF2BPL CL E G H6420714282OMIM:618088Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures
HP:0004305HP:0004305Involuntary movements0IRF4 CL E G H36626119ORPHA:3452Whipple disease1
HP:0004305HP:0004305Involuntary movements0ITM2B CL E G H94456174OMIM:176500Cerebral amyloid angiopathy, itm2b-related, 13
HP:0004305HP:0004305Involuntary movements0ITM2B CL E G H94456174OMIM:117300Dementia, familial danish3
HP:0004305HP:0004305Involuntary movements0ITPA CL E G H37046176OMIM:616647Epileptic encephalopathy, early infantile, 358
HP:0004305HP:0004305Involuntary movements0ITPR1 CL E G H37086180OMIM:206700Gillespie syndrome177
HP:0004305HP:0004305Involuntary movements0ITPR1 CL E G H37086180OMIM:606658Spinocerebellar ataxia 15177
HP:0004305HP:0004305Involuntary movements0ITPR1 CL E G H37086180OMIM:117360Spinocerebellar ataxia 29177
HP:0004305HP:0004305Involuntary movements0ITPR1 CL E G H37086180ORPHA:98769Spinocerebellar ataxia type 15/16177
HP:0004305HP:0004305Involuntary movements0ITPR1 CL E G H37086180ORPHA:208513Spinocerebellar ataxia type 29177
HP:0004305HP:0004305Involuntary movements0JAG1 CL E G H1826188OMIM:619574CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2HH; CMT2HH257
HP:0004305HP:0004305Involuntary movements0JPH3 CL E G H5733814203ORPHA:98934Huntington disease-like 2HP:0040283 - Occasional2
HP:0004305HP:0004305Involuntary movements0JPH3 CL E G H5733814203OMIM:606438Huntington disease-like 22
HP:0004305HP:0004305Involuntary movements0JRK CL E G H86296199ORPHA:64280Childhood absence epilepsy
HP:0004305HP:0004305Involuntary movements0JRK CL E G H86296199ORPHA:307Juvenile myoclonic epilepsy
HP:0004305HP:0004305Involuntary movements0KAT5 CL E G H105245275OMIM:619103NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES; NEDFASB1
HP:0004305HP:0004305Involuntary movements0KAT6A CL E G H799413013OMIM:616268Arboleda-Tham syndrome34
HP:0004305HP:0004305Involuntary movements0KATNIP CL E G H2324729068ORPHA:475Joubert syndrome
HP:0004305HP:0004305Involuntary movements0KCNA1 CL E G H37366218ORPHA:1934Early infantile epileptic encephalopathy145
HP:0004305HP:0004305Involuntary movements0KCNA1 CL E G H37366218ORPHA:37612Episodic ataxia type 1145
HP:0004305HP:0004305Involuntary movements0KCNA1 CL E G H37366218OMIM:160120Episodic ataxia, type 1145
HP:0004305HP:0004305Involuntary movements0KCNA1 CL E G H37366218ORPHA:98809Paroxysmal kinesigenic dyskinesiaHP:0040281 - Very frequent145
HP:0004305HP:0004305Involuntary movements0KCNA2 CL E G H37376220OMIM:616366Epileptic encephalopathy, early infantile, 3213
HP:0004305HP:0004305Involuntary movements0KCNA2 CL E G H37376220ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional13
HP:0004305HP:0004305Involuntary movements0KCNAB2 CL E G H85146229ORPHA:16061p36 deletion syndrome1
HP:0004305HP:0004305Involuntary movements0KCNB1 CL E G H37456231OMIM:616056EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26; EIEE2665
HP:0004305HP:0004305Involuntary movements0KCNB1 CL E G H37456231ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional65
HP:0004305HP:0004305Involuntary movements0KCNC1 CL E G H37466233OMIM:616187Epilepsy, progressive myoclonic 76
HP:0004305HP:0004305Involuntary movements0KCNC2 CL E G H37476234OMIM:619913
HP:0004305HP:0004305Involuntary movements0KCNC3 CL E G H37486235OMIM:605259Spinocerebellar ataxia 1317
HP:0004305HP:0004305Involuntary movements0KCNC3 CL E G H37486235ORPHA:98768Spinocerebellar ataxia type 1317
HP:0004305HP:0004305Involuntary movements0KCND3 CL E G H37526239OMIM:607346Spinocerebellar ataxia 1935
HP:0004305HP:0004305Involuntary movements0KCNJ10 CL E G H37666256ORPHA:199343EAST syndrome121
HP:0004305HP:0004305Involuntary movements0KCNJ10 CL E G H37666256OMIM:612780Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance121
HP:0004305HP:0004305Involuntary movements0KCNJ18 CL E G H10013444439080ORPHA:79102Thyrotoxic periodic paralysis10
HP:0004305HP:0004305Involuntary movements0KCNJ18 CL E G H10013444439080OMIM:613239Thyrotoxic periodic paralysis, susceptibility to, 210
HP:0004305HP:0004305Involuntary movements0KCNK4 CL E G H508016279OMIM:618381Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome
HP:0004305HP:0004305Involuntary movements0KCNK9 CL E G H513056283ORPHA:166108Intellectual disability, Birk-Barel type4
HP:0004305HP:0004305Involuntary movements0KCNMA1 CL E G H37786284ORPHA:79137Generalized epilepsy-paroxysmal dyskinesia syndrome114
HP:0004305HP:0004305Involuntary movements0KCNMA1 CL E G H37786284OMIM:609446Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy114
HP:0004305HP:0004305Involuntary movements0KCNN2 CL E G H37816291OMIM:619724DYSTONIA 34, MYOCLONIC; DYT34
HP:0004305HP:0004305Involuntary movements0KCNN2 CL E G H37816291OMIM:619725NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE MOVEMENT OR BEHAVIORAL ABNORMALITIES; NEDMAB
HP:0004305HP:0004305Involuntary movements0KCNQ2 CL E G H37856296ORPHA:306Benign familial infantile epilepsy528
HP:0004305HP:0004305Involuntary movements0KCNQ2 CL E G H37856296ORPHA:1949Benign familial neonatal epilepsy528
HP:0004305HP:0004305Involuntary movements0KCNQ3 CL E G H37866297ORPHA:306Benign familial infantile epilepsy302
HP:0004305HP:0004305Involuntary movements0KCNQ3 CL E G H37866297ORPHA:1949Benign familial neonatal epilepsy302
HP:0004305HP:0004305Involuntary movements0KCNQ3 CL E G H37866297ORPHA:307Juvenile myoclonic epilepsy302
HP:0004305HP:0004305Involuntary movements0KCNT1 CL E G H5758218865ORPHA:98784Autosomal dominant nocturnal frontal lobe epilepsyHP:0040282 - Frequent321
HP:0004305HP:0004305Involuntary movements0KCNT1 CL E G H5758218865OMIM:614959Epileptic encephalopathy, early infantile, 14321
HP:0004305HP:0004305Involuntary movements0KCTD17 CL E G H7973425705OMIM:616398Dystonia 26, myoclonic1
HP:0004305HP:0004305Involuntary movements0KCTD17 CL E G H7973425705ORPHA:36899Myoclonus-dystonia syndrome1
HP:0004305HP:0004305Involuntary movements0KCTD7 CL E G H15488121957ORPHA:263516Progressive myoclonic epilepsy type 3106
HP:0004305HP:0004305Involuntary movements0KDM1A CL E G H2302829079ORPHA:477993Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome3
HP:0004305HP:0004305Involuntary movements0KIAA0586 CL E G H978619960ORPHA:475Joubert syndrome24
HP:0004305HP:0004305Involuntary movements0KIAA0753 CL E G H985129110ORPHA:2754Orofaciodigital syndrome type 64
HP:0004305HP:0004305Involuntary movements0KIF15 CL E G H5699217273ORPHA:26132321q22.11q22.12 microdeletion syndrome
HP:0004305HP:0004305Involuntary movements0KIF1A CL E G H547888OMIM:610357Spastic paraplegia 30, autosomal recessive276
HP:0004305HP:0004305Involuntary movements0KIF1B CL E G H2309516636ORPHA:29072Hereditary pheochromocytoma-paraganglioma202
HP:0004305HP:0004305Involuntary movements0KIF1B CL E G H2309516636OMIM:256700Neuroblastoma, susceptibility to202
HP:0004305HP:0004305Involuntary movements0KIF1C CL E G H107496317ORPHA:397946Autosomal spastic paraplegia type 5838
HP:0004305HP:0004305Involuntary movements0KIF1C CL E G H107496317OMIM:611302Spastic ataxia 2, autosomal recessive38
HP:0004305HP:0004305Involuntary movements0KIF5A CL E G H37986323ORPHA:100991Autosomal dominant spastic paraplegia type 1093
HP:0004305HP:0004305Involuntary movements0KIF5A CL E G H37986323OMIM:617235Myoclonus, intractable, neonatal93
HP:0004305HP:0004305Involuntary movements0KIF5A CL E G H37986323OMIM:604187Spastic paraplegia 10, autosomal dominant93
HP:0004305HP:0004305Involuntary movements0KIF5C CL E G H38006325OMIM:615282CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2; CDCBM218
HP:0004305HP:0004305Involuntary movements0KIF7 CL E G H37465430497ORPHA:2754Orofaciodigital syndrome type 6167
HP:0004305HP:0004305Involuntary movements0KLC2 CL E G H6483720716OMIM:609541Spastic paraplegia, optic atrophy, and neuropathy1
HP:0004305HP:0004305Involuntary movements0KMT2A CL E G H42977132ORPHA:319182Wiedemann-Steiner syndrome91
HP:0004305HP:0004305Involuntary movements0KMT2B CL E G H975715840OMIM:617284Dystonia 28, childhood-onset11
HP:0004305HP:0004305Involuntary movements0KMT5B CL E G H5111124283OMIM:617788Mental retardation, autosomal dominant 512
HP:0004305HP:0004305Involuntary movements0KNSTRN CL E G H9041730767ORPHA:221139Combined immunodeficiency with faciooculoskeletal anomalies1
HP:0004305HP:0004305Involuntary movements0KPNA3 CL E G H38396396ORPHA:171612Autosomal dominant spastic paraplegia type 37
HP:0004305HP:0004305Involuntary movements0KPTN CL E G H111336404ORPHA:397612Macrocephaly-developmental delay syndrome13
HP:0004305HP:0004305Involuntary movements0KPTN CL E G H111336404OMIM:615637Mental retardation, autosomal recessive 4113
HP:0004305HP:0004305Involuntary movements0KYNU CL E G H89426469ORPHA:79155Hydroxykynureninuria5
HP:0004305HP:0004305Involuntary movements0LAMA1 CL E G H2842176481ORPHA:370022Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome35
HP:0004305HP:0004305Involuntary movements0LARP7 CL E G H5157424912ORPHA:319671Alazami syndrome16
HP:0004305HP:0004305Involuntary movements0LEMD2 CL E G H22149621244OMIM:619322MARBACH-RUSTAD PROGEROID SYNDROME; MARUPS1
HP:0004305HP:0004305Involuntary movements0LEMD3 CL E G H2359228887ORPHA:9406312q14 microdeletion syndrome68
HP:0004305HP:0004305Involuntary movements0LETM1 CL E G H39546556OMIM:194190Wolf-Hirschhorn syndrome2
HP:0004305HP:0004305Involuntary movements0LGI3 CL E G H20319018711OMIM:620007
HP:0004305HP:0004305Involuntary movements0LIAS CL E G H1101916429OMIM:614462Hyperglycinemia, lactic acidosis, and seizures31
HP:0004305HP:0004305Involuntary movements0LIG3 CL E G H39806600OMIM:619780MITOCHONDRIAL DNA DEPLETION SYNDROME 20 (MNGIE TYPE); MTDPS201
HP:0004305HP:0004305Involuntary movements0LIMK1 CL E G H39846613ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0004305HP:0004305Involuntary movements0LMAN2L CL E G H8156219263OMIM:6178631
HP:0004305HP:0004305Involuntary movements0LMNB1 CL E G H40016637ORPHA:99027Adult-onset autosomal dominant leukodystrophy44
HP:0004305HP:0004305Involuntary movements0LMNB1 CL E G H40016637OMIM:619179MICROCEPHALY 26, PRIMARY, AUTOSOMAL DOMINANT; MCPH2644
HP:0004305HP:0004305Involuntary movements0LMNB2 CL E G H848236638OMIM:616540Epilepsy, progressive myoclonic, 911
HP:0004305HP:0004305Involuntary movements0LNPK CL E G H8085621610OMIM:618090Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum
HP:0004305HP:0004305Involuntary movements0LRP12 CL E G H2996731708OMIM:164310Oculopharyngodistal myopathy 1
HP:0004305HP:0004305Involuntary movements0LRPPRC CL E G H1012815714ORPHA:70472Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type191
HP:0004305HP:0004305Involuntary movements0LRPPRC CL E G H1012815714OMIM:220111Leigh syndrome, french Canadian type191
HP:0004305HP:0004305Involuntary movements0LRRK2 CL E G H12089218618ORPHA:411602Hereditary late-onset Parkinson disease221
HP:0004305HP:0004305Involuntary movements0LRRK2 CL E G H12089218618OMIM:607060Parkinson disease 8, autosomal dominant221
HP:0004305HP:0004305Involuntary movements0LRRK2 CL E G H12089218618ORPHA:2828Young-onset Parkinson disease221
HP:0004305HP:0004305Involuntary movements0LRSAM1 CL E G H9067825135OMIM:614436Charcot-Marie-Tooth disease, axonal, type 2P102
HP:0004305HP:0004305Involuntary movements0LSM11 CL E G H13435330860ORPHA:51Aicardi-Goutières syndrome
HP:0004305HP:0004305Involuntary movements0LUZP1 CL E G H779814985ORPHA:16061p36 deletion syndrome
HP:0004305HP:0004305Involuntary movements0LYST CL E G H11301968ORPHA:167Chédiak-Higashi syndrome239
HP:0004305HP:0004305Involuntary movements0LYST CL E G H11301968OMIM:214500Chediak-Higashi syndrome239
HP:0004305HP:0004305Involuntary movements0MACF1 CL E G H2349913664OMIM:618325Lissencephaly 9 with complex brainstem malformationHP:0040284 - Very rare2
HP:0004305HP:0004305Involuntary movements0MACF1 CL E G H2349913664ORPHA:572013Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome2
HP:0004305HP:0004305Involuntary movements0MADD CL E G H85676766OMIM:619005NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA; NEDDISH5
HP:0004305HP:0004305Involuntary movements0MAG CL E G H40996783ORPHA:459056Autosomal recessive spastic paraplegia type 754
HP:0004305HP:0004305Involuntary movements0MAN1B1 CL E G H112536823ORPHA:397941MAN1B1-CDG93
HP:0004305HP:0004305Involuntary movements0MAOA CL E G H41286833OMIM:300615Brunner syndrome22
HP:0004305HP:0004305Involuntary movements0MAPK1 CL E G H55946871ORPHA:261330Distal 22q11.2 microdeletion syndrome2
HP:0004305HP:0004305Involuntary movements0MAPK10 CL E G H56026872ORPHA:2382Lennox-Gastaut syndrome61
HP:0004305HP:0004305Involuntary movements0MAPT CL E G H41376893ORPHA:275864Behavioral variant of frontotemporal dementia140
HP:0004305HP:0004305Involuntary movements0MAPT CL E G H41376893ORPHA:240071Classic progressive supranuclear palsy syndrome140
HP:0004305HP:0004305Involuntary movements0MAPT CL E G H41376893OMIM:168600Parkinson disease, late-onset140
HP:0004305HP:0004305Involuntary movements0MAPT CL E G H41376893OMIM:172700Pick disease of brain140
HP:0004305HP:0004305Involuntary movements0MAPT CL E G H41376893ORPHA:240103Progressive supranuclear palsy-corticobasal syndromeHP:0040282 - Frequent140
HP:0004305HP:0004305Involuntary movements0MAPT CL E G H41376893ORPHA:240085Progressive supranuclear palsy-parkinsonism syndrome140
HP:0004305HP:0004305Involuntary movements0MAPT CL E G H41376893OMIM:260540Supranuclear palsy, progressive atypical140
HP:0004305HP:0004305Involuntary movements0MAPT CL E G H41376893OMIM:601104Supranuclear palsy, progressive, 1140
HP:0004305HP:0004305Involuntary movements0MARCHF6 CL E G H1029930550ORPHA:86814Benign adult familial myoclonic epilepsy
HP:0004305HP:0004305Involuntary movements0MARCHF6 CL E G H1029930550OMIM:613608Epilepsy, familial adult myoclonic, 3
HP:0004305HP:0004305Involuntary movements0MARS1 CL E G H41416898ORPHA:401835Autosomal recessive spastic paraplegia type 70
HP:0004305HP:0004305Involuntary movements0MAX CL E G H41496913ORPHA:29072Hereditary pheochromocytoma-paraganglioma84
HP:0004305HP:0004305Involuntary movements0MBD5 CL E G H5577720444ORPHA:2284022q23.1 microdeletion syndrome252
HP:0004305HP:0004305Involuntary movements0MBD5 CL E G H5577720444OMIM:156200Mental retardation, autosomal dominant 1252
HP:0004305HP:0004305Involuntary movements0MDH2 CL E G H41916971ORPHA:29072Hereditary pheochromocytoma-paraganglioma4
HP:0004305HP:0004305Involuntary movements0MECP2 CL E G H42046990ORPHA:3095Atypical Rett syndromeHP:0040281 - Very frequent950
HP:0004305HP:0004305Involuntary movements0MECP2 CL E G H42046990OMIM:300496Autism susceptibility, X-linked 3950
HP:0004305HP:0004305Involuntary movements0MECP2 CL E G H42046990OMIM:300673Encephalopathy, neonatal severe, due to mecp2 mutations950
HP:0004305HP:0004305Involuntary movements0MECP2 CL E G H42046990OMIM:300260Mental retardation, x-linked syndromic, Lubs type950
HP:0004305HP:0004305Involuntary movements0MECP2 CL E G H42046990OMIM:300055Mental retardation, X-linked, syndromic 13950
HP:0004305HP:0004305Involuntary movements0MECP2 CL E G H42046990OMIM:312750Rett syndrome950
HP:0004305HP:0004305Involuntary movements0MECP2 CL E G H42046990ORPHA:778Rett syndrome950
HP:0004305HP:0004305Involuntary movements0MECP2 CL E G H42046990ORPHA:3077X-linked intellectual disability-psychosis-macroorchidism syndrome950
HP:0004305HP:0004305Involuntary movements0MECR CL E G H5110219691OMIM:617282Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities.6
HP:0004305HP:0004305Involuntary movements0MECR CL E G H5110219691ORPHA:508093MEPAN syndrome6
HP:0004305HP:0004305Involuntary movements0MED17 CL E G H94402375OMIM:613668Microcephaly, postnatal progressive, with seizures and brain atrophy23
HP:0004305HP:0004305Involuntary movements0MED23 CL E G H94392372OMIM:614249Mental retardation, autosomal recessive 1825
HP:0004305HP:0004305Involuntary movements0MEF2C CL E G H42086996ORPHA:2283845q14.3 microdeletion syndrome132
HP:0004305HP:0004305Involuntary movements0MEF2C CL E G H42086996OMIM:613443Mental retardation, autosomal dominant 20132
HP:0004305HP:0004305Involuntary movements0MEGF10 CL E G H8446629634OMIM:614399Myopathy, areflexia, respiratory distress, and dysphagia, early-onset158
HP:0004305HP:0004305Involuntary movements0MEN1 CL E G H42217010ORPHA:97279Insulinoma462
HP:0004305HP:0004305Involuntary movements0METTL27 CL E G H15536819068ORPHA:904Williams syndromeHP:0040281 - Very frequent1
HP:0004305HP:0004305Involuntary movements0MFN2 CL E G H992716877ORPHA:99947Autosomal dominant Charcot-Marie-Tooth disease type 2A2203
HP:0004305HP:0004305Involuntary movements0MFN2 CL E G H992716877OMIM:609260Charcot-marie-tooth disease, axonal, type 2A2A203
HP:0004305HP:0004305Involuntary movements0MGAT2 CL E G H42477045OMIM:212066Congenital disorder of glycosylation, type IIa39
HP:0004305HP:0004305Involuntary movements0MGAT2 CL E G H42477045ORPHA:79329MGAT2-CDG39
HP:0004305HP:0004305Involuntary movements0MICOS13 CL E G H12598833702ORPHA:670473-methylglutaconic aciduria type 3
HP:0004305HP:0004305Involuntary movements0MICU1 CL E G H103671530OMIM:615673Myopathy with extrapyramidal signs14
HP:0004305HP:0004305Involuntary movements0MICU1 CL E G H103671530ORPHA:401768Proximal myopathy with extrapyramidal signsHP:0040282 - Frequent14
HP:0004305HP:0004305Involuntary movements0MINPP1 CL E G H95627102ORPHA:284339Pontocerebellar hypoplasia type 7HP:0040283 - Occasional3
HP:0004305HP:0004305Involuntary movements0MKS1 CL E G H549037121ORPHA:475Joubert syndrome127
HP:0004305HP:0004305Involuntary movements0MKS1 CL E G H549037121ORPHA:220493Joubert syndrome with ocular defect127
HP:0004305HP:0004305Involuntary movements0MLXIPL CL E G H5108512744ORPHA:904Williams syndromeHP:0040281 - Very frequent1
HP:0004305HP:0004305Involuntary movements0MMAA CL E G H16678518871OMIM:251100Methylmalonic aciduria, Cbla type113
HP:0004305HP:0004305Involuntary movements0MMACHC CL E G H2597424525OMIM:277400Methylmalonic aciduria and homocystinuria, Cblc type101
HP:0004305HP:0004305Involuntary movements0MME CL E G H43117154OMIM:617018SPINOCEREBELLAR ATAXIA 43; SCA4318
HP:0004305HP:0004305Involuntary movements0MMP23B CL E G H85107171ORPHA:16061p36 deletion syndrome
HP:0004305HP:0004305Involuntary movements0MMUT CL E G H45947526ORPHA:79312Vitamin B12-unresponsive methylmalonic acidemia type mut-
HP:0004305HP:0004305Involuntary movements0MMUT CL E G H45947526ORPHA:289916Vitamin B12-unresponsive methylmalonic acidemia type mut0
HP:0004305HP:0004305Involuntary movements0MOCS1 CL E G H43377190OMIM:252150Molybdenum cofactor deficiency, complementation group A96
HP:0004305HP:0004305Involuntary movements0MOCS2 CL E G H43387193OMIM:252160Molybdenum cofactor deficiency, complementation group B26
HP:0004305HP:0004305Involuntary movements0MORC2 CL E G H2288023573ORPHA:466768Autosomal dominant Charcot-Marie-Tooth disease type 2Z8
HP:0004305HP:0004305Involuntary movements0MORC2 CL E G H2288023573OMIM:616688Charcot-Marie-Tooth disease, axonal, type 2Z8
HP:0004305HP:0004305Involuntary movements0MPLKIP CL E G H13664716002ORPHA:33364Trichothiodystrophy9
HP:0004305HP:0004305Involuntary movements0MPZ CL E G H43597225OMIM:145900Hypertrophic neuropathy of dejerine-sottas134
HP:0004305HP:0004305Involuntary movements0MPZ CL E G H43597225ORPHA:3115Roussy-Lévy syndrome134
HP:0004305HP:0004305Involuntary movements0MPZ CL E G H43597225OMIM:180800Roussy-Levy hereditary areflexic dystasia134
HP:0004305HP:0004305Involuntary movements0MRE11 CL E G H43617230ORPHA:251347Ataxia-telangiectasia-like disorder532
HP:0004305HP:0004305Involuntary movements0MRE11 CL E G H43617230OMIM:604391Ataxia-Telangiectasia-Like disorder 1532
HP:0004305HP:0004305Involuntary movements0MRM2 CL E G H2996016352OMIM:618567MITOCHONDRIAL DNA DEPLETION SYNDROME 17; MTDPS17
HP:0004305HP:0004305Involuntary movements0MRPL12 CL E G H618210378OMIM:618951COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 45; COXPD4511
HP:0004305HP:0004305Involuntary movements0MRPS34 CL E G H6599316618OMIM:617664Combined oxidative phosphorylation deficiency 321
HP:0004305HP:0004305Involuntary movements0MSTO1 CL E G H5515429678ORPHA:502423Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome
HP:0004305HP:0004305Involuntary movements0MSTO1 CL E G H5515429678OMIM:617675Myopathy, mitochondrial, and ataxia
HP:0004305HP:0004305Involuntary movements0MTFMT CL E G H12326329666OMIM:614947Combined oxidative phosphorylation deficiency 1529
HP:0004305HP:0004305Involuntary movements0MTOR CL E G H24753942ORPHA:99802Hemimegalencephaly68
HP:0004305HP:0004305Involuntary movements0MTPAP CL E G H5514925532ORPHA:254343Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome19
HP:0004305HP:0004305Involuntary movements0MTRFR CL E G H9157426784OMIM:615035Spastic paraplegia 55, autosomal recessive
HP:0004305HP:0004305Involuntary movements0MYBPC1 CL E G H46047549OMIM:618524MYOPATHY, CONGENITAL, WITH TREMOR; MYOTREM66
HP:0004305HP:0004305Involuntary movements0MYH14 CL E G H7978423212OMIM:614369Peripheral neuropathy, myopathy, hoarseness, and hearing loss227
HP:0004305HP:0004305Involuntary movements0MYH14 CL E G H7978423212ORPHA:397744Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome227
HP:0004305HP:0004305Involuntary movements0MYL2 CL E G H46337583OMIM:619424MYOPATHY, MYOFIBRILLAR, 12, INFANTILE-ONSET, WITH CARDIOMYOPATHY; MFM12131
HP:0004305HP:0004305Involuntary movements0MYO5A CL E G H46447602ORPHA:33445Neuroectodermal melanolysosomal disease35
HP:0004305HP:0004305Involuntary movements0MYORG CL E G H5746219918OMIM:618317Basal ganglia calcification, idiopathic, 7, autosomal recessive
HP:0004305HP:0004305Involuntary movements0MYOT CL E G H949912399OMIM:182920Myopathy, spheroid body75
HP:0004305HP:0004305Involuntary movements0NAA10 CL E G H826018704OMIM:300855Ogden syndrome23
HP:0004305HP:0004305Involuntary movements0NAA15 CL E G H8015530782OMIM:617787MENTAL RETARDATION, AUTOSOMAL DOMINANT 50; MRD501
HP:0004305HP:0004305Involuntary movements0NAA20 CL E G H5112615908OMIM:619717INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 73; MRT73
HP:0004305HP:0004305Involuntary movements0NACC1 CL E G H11293920967OMIM:617393Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination1
HP:0004305HP:0004305Involuntary movements0NACC1 CL E G H11293920967ORPHA:500545Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract1
HP:0004305HP:0004305Involuntary movements0NADK2 CL E G H13368626404OMIM:6160342,4-Dienoyl-Coa reductase deficiency14
HP:0004305HP:0004305Involuntary movements0NADK2 CL E G H13368626404ORPHA:431361Progressive encephalopathy with leukodystrophy due to DECR deficiency14
HP:0004305HP:0004305Involuntary movements0NAGA CL E G H46687631ORPHA:79279Alpha-N-acetylgalactosaminidase deficiency type 147
HP:0004305HP:0004305Involuntary movements0NAGA CL E G H46687631OMIM:609241Schindler disease, type I47
HP:0004305HP:0004305Involuntary movements0NAGS CL E G H16241717996ORPHA:927Hyperammonemia due to N-acetylglutamate synthase deficiency36
HP:0004305HP:0004305Involuntary movements0NAPB CL E G H6390815751OMIM:6200332
HP:0004305HP:0004305Involuntary movements0NARS1 CL E G H46777643OMIM:619092NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, EPILEPSY, AND GAIT ABNORMALITIES; NEDMILEG
HP:0004305HP:0004305Involuntary movements0NAT8L CL E G H33998326742OMIM:614063N-ACETYLASPARTATE DEFICIENCY1
HP:0004305HP:0004305Involuntary movements0NAXD CL E G H5573925576OMIM:618321Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2
HP:0004305HP:0004305Involuntary movements0NAXE CL E G H12824018453OMIM:617186Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 19
HP:0004305HP:0004305Involuntary movements0NCF1 CL E G H6533617660ORPHA:904Williams syndromeHP:0040281 - Very frequent13
HP:0004305HP:0004305Involuntary movements0ND1 CL E G H45357455ORPHA:104Leber hereditary optic neuropathy
HP:0004305HP:0004305Involuntary movements0ND1 CL E G H45357455OMIM:535000Leber optic atrophy
HP:0004305HP:0004305Involuntary movements0ND1 CL E G H45357455ORPHA:550MELAS
HP:0004305HP:0004305Involuntary movements0ND1 CL E G H45357455ORPHA:255210Mitochondrial DNA-associated Leigh syndrome
HP:0004305HP:0004305Involuntary movements0ND2 CL E G H45367456ORPHA:104Leber hereditary optic neuropathy
HP:0004305HP:0004305Involuntary movements0ND2 CL E G H45367456OMIM:535000Leber optic atrophy
HP:0004305HP:0004305Involuntary movements0ND2 CL E G H45367456ORPHA:255210Mitochondrial DNA-associated Leigh syndrome
HP:0004305HP:0004305Involuntary movements0ND3 CL E G H45377458ORPHA:255210Mitochondrial DNA-associated Leigh syndrome
HP:0004305HP:0004305Involuntary movements0ND4 CL E G H45387459ORPHA:104Leber hereditary optic neuropathy
HP:0004305HP:0004305Involuntary movements0ND4 CL E G H45387459OMIM:535000Leber optic atrophy
HP:0004305HP:0004305Involuntary movements0ND4 CL E G H45387459ORPHA:550MELAS
HP:0004305HP:0004305Involuntary movements0ND4 CL E G H45387459ORPHA:255210Mitochondrial DNA-associated Leigh syndrome
HP:0004305HP:0004305Involuntary movements0ND4L CL E G H45397460ORPHA:104Leber hereditary optic neuropathy
HP:0004305HP:0004305Involuntary movements0ND4L CL E G H45397460OMIM:535000Leber optic atrophy
HP:0004305HP:0004305Involuntary movements0ND5 CL E G H45407461ORPHA:104Leber hereditary optic neuropathy
HP:0004305HP:0004305Involuntary movements0ND5 CL E G H45407461OMIM:535000Leber optic atrophy
HP:0004305HP:0004305Involuntary movements0ND5 CL E G H45407461ORPHA:550MELAS
HP:0004305HP:0004305Involuntary movements0ND5 CL E G H45407461ORPHA:255210Mitochondrial DNA-associated Leigh syndrome
HP:0004305HP:0004305Involuntary movements0ND6 CL E G H45417462ORPHA:104Leber hereditary optic neuropathy
HP:0004305HP:0004305Involuntary movements0ND6 CL E G H45417462OMIM:535000Leber optic atrophy
HP:0004305HP:0004305Involuntary movements0ND6 CL E G H45417462ORPHA:550MELAS
HP:0004305HP:0004305Involuntary movements0ND6 CL E G H45417462ORPHA:255210Mitochondrial DNA-associated Leigh syndrome
HP:0004305HP:0004305Involuntary movements0NDE1 CL E G H5482017619OMIM:605013MICROHYDRANENCEPHALY96
HP:0004305HP:0004305Involuntary movements0NDNF CL E G H7962526256ORPHA:478Kallmann syndrome
HP:0004305HP:0004305Involuntary movements0NDP CL E G H46937678ORPHA:649Norrie disease39
HP:0004305HP:0004305Involuntary movements0NDRG1 CL E G H103977679ORPHA:99950Charcot-Marie-Tooth disease type 4D82
HP:0004305HP:0004305Involuntary movements0NDUFA1 CL E G H46947683OMIM:301020Mitochondrial complex I deficiency, nuclear type 127
HP:0004305HP:0004305Involuntary movements0NDUFA13 CL E G H5107917194OMIM:618249Mitochondrial complex I deficiency, nuclear type 283
HP:0004305HP:0004305Involuntary movements0NDUFA4 CL E G H46977687OMIM:619065MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 21; MC4DN214
HP:0004305HP:0004305Involuntary movements0NDUFA9 CL E G H47047693OMIM:618247Mitochondrial complex I deficiency, nuclear type 2627
HP:0004305HP:0004305Involuntary movements0NDUFAF3 CL E G H2591529918ORPHA:70474Leigh syndrome with cardiomyopathyHP:0040283 - Occasional31
HP:0004305HP:0004305Involuntary movements0NDUFAF3 CL E G H2591529918OMIM:618240Mitochondrial complex I deficiency, nuclear type 1831
HP:0004305HP:0004305Involuntary movements0NDUFAF5 CL E G H7913315899OMIM:618238Mitochondrial complex I deficiency, nuclear type 1634
HP:0004305HP:0004305Involuntary movements0NDUFB8 CL E G H47147703ORPHA:70474Leigh syndrome with cardiomyopathyHP:0040283 - Occasional
HP:0004305HP:0004305Involuntary movements0NDUFS2 CL E G H47207708ORPHA:104Leber hereditary optic neuropathy65
HP:0004305HP:0004305Involuntary movements0NDUFS2 CL E G H47207708ORPHA:70474Leigh syndrome with cardiomyopathyHP:0040283 - Occasional65
HP:0004305HP:0004305Involuntary movements0NDUFS4 CL E G H47247711OMIM:252010Mitochondrial complex I deficiency, nuclear type 127
HP:0004305HP:0004305Involuntary movements0NDUFS8 CL E G H47287715OMIM:618222Mitochondrial complex I deficiency, nuclear type 242
HP:0004305HP:0004305Involuntary movements0NDUFV1 CL E G H47237716OMIM:618225Mitochondrial complex I deficiency, nuclear type 474
HP:0004305HP:0004305Involuntary movements0NECAP1 CL E G H2597724539ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional1
HP:0004305HP:0004305Involuntary movements0NEFH CL E G H47447737OMIM:105400Amyotrophic lateral sclerosis 124
HP:0004305HP:0004305Involuntary movements0NEFL CL E G H47477739ORPHA:101085Charcot-Marie-Tooth disease type 1F118
HP:0004305HP:0004305Involuntary movements0NEFL CL E G H47477739OMIM:607734Charcot-Marie-Tooth disease, demyelinating, type 1F118
HP:0004305HP:0004305Involuntary movements0NEMF CL E G H914710663OMIM:619099INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY AND AXONAL PERIPHERAL NEUROPATHY; IDDSAPN1
HP:0004305HP:0004305Involuntary movements0NEU1 CL E G H47587758ORPHA:93400Congenital sialidosis type 243
HP:0004305HP:0004305Involuntary movements0NEU1 CL E G H47587758ORPHA:93399Juvenile sialidosis type 243
HP:0004305HP:0004305Involuntary movements0NEU1 CL E G H47587758OMIM:256550Neuraminidase deficiency43
HP:0004305HP:0004305Involuntary movements0NEU1 CL E G H47587758ORPHA:812Sialidosis type 143
HP:0004305HP:0004305Involuntary movements0NEUROD2 CL E G H47617763ORPHA:1934Early infantile epileptic encephalopathy
HP:0004305HP:0004305Involuntary movements0NEXMIF CL E G H34053329433OMIM:300912Mental retardation, X-linked 9852
HP:0004305HP:0004305Involuntary movements0NEXMIF CL E G H34053329433ORPHA:1942Myoclonic-astatic epilepsy52
HP:0004305HP:0004305Involuntary movements0NEXMIF CL E G H34053329433ORPHA:85277X-linked intellectual disability, Cantagrel type52
HP:0004305HP:0004305Involuntary movements0NF1 CL E G H47637765ORPHA:29072Hereditary pheochromocytoma-paraganglioma1952
HP:0004305HP:0004305Involuntary movements0NF2 CL E G H47717773ORPHA:2495Meningioma220
HP:0004305HP:0004305Involuntary movements0NFASC CL E G H2311429866OMIM:618356Neurodevelopmental disorder with central and peripheral motor dysfunction
HP:0004305HP:0004305Involuntary movements0NFE2L2 CL E G H47807782OMIM:617744Immunodeficiency, developmental delay, and hypohomocysteinemia20
HP:0004305HP:0004305Involuntary movements0NFU1 CL E G H2724716287OMIM:605711Multiple mitochondrial dysfunctions syndrome 134
HP:0004305HP:0004305Involuntary movements0NGLY1 CL E G H5576817646ORPHA:404454Alacrimia-choreoathetosis-liver dysfunction syndrome32
HP:0004305HP:0004305Involuntary movements0NGLY1 CL E G H5576817646OMIM:615273Congenital disorder of deglycosylation32
HP:0004305HP:0004305Involuntary movements0NHLRC1 CL E G H37888421576ORPHA:501Lafora disease77
HP:0004305HP:0004305Involuntary movements0NHLRC1 CL E G H37888421576OMIM:254780Myoclonic epilepsy of lafora77
HP:0004305HP:0004305Involuntary movements0NHLRC2 CL E G H37435424731OMIM:618278Fibrosis, neurodegeneration, and cerebral angiomatosis
HP:0004305HP:0004305Involuntary movements0NIPA1 CL E G H12360617043ORPHA:100988Autosomal dominant spastic paraplegia type 6117
HP:0004305HP:0004305Involuntary movements0NIPA1 CL E G H12360617043OMIM:600363Spastic paraplegia 6, autosomal dominant117
HP:0004305HP:0004305Involuntary movements0NKX2-1 CL E G H708011825ORPHA:209905Brain-lung-thyroid syndromeHP:0040283 - Occasional51
HP:0004305HP:0004305Involuntary movements0NKX2-1 CL E G H708011825OMIM:118700Chorea, benign hereditary51
HP:0004305HP:0004305Involuntary movements0NKX2-1 CL E G H708011825OMIM:610978Choreoathetosis, hypothyroidism, and neonatal respiratory distress51
HP:0004305HP:0004305Involuntary movements0NKX6-2 CL E G H8450419321ORPHA:527497NKX6-2-related autosomal recessive hypomyelinating leukodystrophy2
HP:0004305HP:0004305Involuntary movements0NKX6-2 CL E G H8450419321OMIM:617560Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy2
HP:0004305HP:0004305Involuntary movements0NLGN3 CL E G H5441314289OMIM:300494Asperger syndrome, X-linked, susceptibility to, 124
HP:0004305HP:0004305Involuntary movements0NLGN3 CL E G H5441314289OMIM:300425Autism susceptibility, X-linked 124
HP:0004305HP:0004305Involuntary movements0NLGN4X CL E G H5750214287OMIM:300497Asperger syndrome susceptibility, X-linked 257
HP:0004305HP:0004305Involuntary movements0NLGN4X CL E G H5750214287OMIM:300495Autism, susceptibility to, X-linked 257
HP:0004305HP:0004305Involuntary movements0NMNAT1 CL E G H6480217877OMIM:608553Leber congenital amaurosis 915
HP:0004305HP:0004305Involuntary movements0NOL3 CL E G H89967869OMIM:614937Myoclonus, familial cortical1
HP:0004305HP:0004305Involuntary movements0NONO CL E G H48417871ORPHA:466791Macrocephaly-intellectual disability-left ventricular non compaction syndrome10
HP:0004305HP:0004305Involuntary movements0NONO CL E G H48417871OMIM:300967MENTAL RETARDATION, X-LINKED, SYNDROMIC 34; MRXS3410
HP:0004305HP:0004305Involuntary movements0NOP56 CL E G H1052815911OMIM:614153Spinocerebellar ataxia 369
HP:0004305HP:0004305Involuntary movements0NOP56 CL E G H1052815911ORPHA:276198Spinocerebellar ataxia type 369
HP:0004305HP:0004305Involuntary movements0NOTCH2NLC CL E G H10099671753924OMIM:603472NEURONAL INTRANUCLEAR INCLUSION DISEASE
HP:0004305HP:0004305Involuntary movements0NOTCH2NLC CL E G H10099671753924OMIM:619473OCULOPHARYNGODISTAL MYOPATHY 3; OPDM3
HP:0004305HP:0004305Involuntary movements0NOTCH2NLC CL E G H10099671753924OMIM:618866TREMOR, HEREDITARY ESSENTIAL, 6; ETM6
HP:0004305HP:0004305Involuntary movements0NOVA2 CL E G H48587887OMIM:618859Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities
HP:0004305HP:0004305Involuntary movements0NPC2 CL E G H1057714537OMIM:607625Niemann-pick disease, type C233
HP:0004305HP:0004305Involuntary movements0NPHP1 CL E G H48677905ORPHA:220497Joubert syndrome with renal defect85
HP:0004305HP:0004305Involuntary movements0NR1H4 CL E G H99717967ORPHA:69665Intrahepatic cholestasis of pregnancy14
HP:0004305HP:0004305Involuntary movements0NR2F1 CL E G H70257975ORPHA:401777Optic atrophy-intellectual disability syndrome37
HP:0004305HP:0004305Involuntary movements0NR4A2 CL E G H49297981OMIM:61991127
HP:0004305HP:0004305Involuntary movements0NR4A2 CL E G H49297981ORPHA:98808Autosomal dominant dopa-responsive dystonia27
HP:0004305HP:0004305Involuntary movements0NR4A2 CL E G H49297981OMIM:168600Parkinson disease, late-onset27
HP:0004305HP:0004305Involuntary movements0NSD1 CL E G H6432414234ORPHA:821Sotos syndrome544
HP:0004305HP:0004305Involuntary movements0NSD2 CL E G H746812766OMIM:619695RAUCH-STEINDL SYNDROME; RAUST118
HP:0004305HP:0004305Involuntary movements0NSD2 CL E G H746812766OMIM:194190Wolf-Hirschhorn syndrome118
HP:0004305HP:0004305Involuntary movements0NTNG1 CL E G H2285423319ORPHA:3095Atypical Rett syndromeHP:0040281 - Very frequent1
HP:0004305HP:0004305Involuntary movements0NTNG2 CL E G H8462814288OMIM:618718NEURODEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES, ABSENT SPEECH, AND HYPOTONIA; NEDBASH
HP:0004305HP:0004305Involuntary movements0NTRK2 CL E G H49158032OMIM:617830EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 58; EIEE588
HP:0004305HP:0004305Involuntary movements0NTRK2 CL E G H49158032ORPHA:3451Infantile spasms syndrome8
HP:0004305HP:0004305Involuntary movements0NTRK2 CL E G H49158032ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional8
HP:0004305HP:0004305Involuntary movements0NTRK2 CL E G H49158032OMIM:613886Obesity, hyperphagia, and developmental delay8
HP:0004305HP:0004305Involuntary movements0NUP214 CL E G H80218064OMIM:618426Encephalopathy, acute, infection-induced, susceptibility to, 91
HP:0004305HP:0004305Involuntary movements0NUP62 CL E G H236368066ORPHA:225154Familial infantile bilateral striatal necrosis7
HP:0004305HP:0004305Involuntary movements0NUP62 CL E G H236368066OMIM:271930Striatonigral degeneration, infantile7
HP:0004305HP:0004305Involuntary movements0NUS1 CL E G H11615021042OMIM:617831MENTAL RETARDATION, AUTOSOMAL DOMINANT 55, WITH SEIZURES; MRD551
HP:0004305HP:0004305Involuntary movements0NUS1 CL E G H11615021042ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional1
HP:0004305HP:0004305Involuntary movements0NUTM2B-AS1 CL E G H10106069151204OMIM:618637OCULOPHARYNGEAL MYOPATHY WITH LEUKOENCEPHALOPATHY 1; OPML1
HP:0004305HP:0004305Involuntary movements0OCA2 CL E G H49488101ORPHA:98794Angelman syndrome due to maternal 15q11q13 deletion121
HP:0004305HP:0004305Involuntary movements0OCRL CL E G H49528108OMIM:309000Lowe syndrome88
HP:0004305HP:0004305Involuntary movements0OCRL CL E G H49528108ORPHA:534Oculocerebrorenal syndrome of Lowe88
HP:0004305HP:0004305Involuntary movements0OFD1 CL E G H84812567ORPHA:2750Orofaciodigital syndrome type 1201
HP:0004305HP:0004305Involuntary movements0OFD1 CL E G H84812567ORPHA:2754Orofaciodigital syndrome type 6201
HP:0004305HP:0004305Involuntary movements0OPA1 CL E G H49768140OMIM:210000Behr syndrome214
HP:0004305HP:0004305Involuntary movements0OPA3 CL E G H802078142ORPHA:670473-methylglutaconic aciduria type 3163
HP:0004305HP:0004305Involuntary movements0OPA3 CL E G H802078142OMIM:2585013-methylglutaconic aciduria, type III163
HP:0004305HP:0004305Involuntary movements0OPA3 CL E G H802078142ORPHA:67036Autosomal dominant optic atrophy and cataract163
HP:0004305HP:0004305Involuntary movements0OPA3 CL E G H802078142OMIM:165300OPTIC ATROPHY 3, AUTOSOMAL DOMINANT; OPA3163
HP:0004305HP:0004305Involuntary movements0OPHN1 CL E G H49838148OMIM:300486Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance55
HP:0004305HP:0004305Involuntary movements0OPHN1 CL E G H49838148ORPHA:137831X-linked intellectual disability-cerebellar hypoplasia syndrome55
HP:0004305HP:0004305Involuntary movements0OPTN CL E G H1013317142OMIM:613435Amyotrophic lateral sclerosis 1262
HP:0004305HP:0004305Involuntary movements0OSTM1 CL E G H2896221652OMIM:259720Osteopetrosis, autosomal recessive 573
HP:0004305HP:0004305Involuntary movements0OXR1 CL E G H5507415822OMIM:213000Cerebellar hypoplasia1
HP:0004305HP:0004305Involuntary movements0PAH CL E G H50538582ORPHA:79254Classic phenylketonuria641
HP:0004305HP:0004305Involuntary movements0PANK2 CL E G H8002515894ORPHA:216873Atypical pantothenate kinase-associated neurodegeneration55
HP:0004305HP:0004305Involuntary movements0PANK2 CL E G H8002515894OMIM:234200Neurodegeneration with brain iron accumulation 155
HP:0004305HP:0004305Involuntary movements0PARK7 CL E G H1131516369OMIM:606324PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET; PARK723
HP:0004305HP:0004305Involuntary movements0PARK7 CL E G H1131516369ORPHA:2828Young-onset Parkinson disease23
HP:0004305HP:0004305Involuntary movements0PARS2 CL E G H2597330563ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional14
HP:0004305HP:0004305Involuntary movements0PC CL E G H50918636OMIM:266150Pyruvate carboxylase deficiency118
HP:0004305HP:0004305Involuntary movements0PCBD1 CL E G H50928646OMIM:264070Hyperphenylalaninemia, BH4-deficient, D24
HP:0004305HP:0004305Involuntary movements0PCBD1 CL E G H50928646ORPHA:1578Pterin-4 alpha-carbinolamine dehydratase deficiency24
HP:0004305HP:0004305Involuntary movements0PCDH19 CL E G H5752614270ORPHA:33069Dravet syndrome225
HP:0004305HP:0004305Involuntary movements0PDE10A CL E G H108468772ORPHA:494541Childhood-onset benign chorea with striatal involvement5
HP:0004305HP:0004305Involuntary movements0PDE10A CL E G H108468772OMIM:616921Dyskinesia, limb and orofacial, infantile-onset5
HP:0004305HP:0004305Involuntary movements0PDE10A CL E G H108468772ORPHA:494526Infantile-onset generalized dyskinesia with orofacial involvement5
HP:0004305HP:0004305Involuntary movements0PDE10A CL E G H108468772OMIM:616922Striatal degeneration, autosomal dominant 25
HP:0004305HP:0004305Involuntary movements0PDE2A CL E G H51388777ORPHA:31709Infantile convulsions and choreoathetosisHP:0040282 - Frequent
HP:0004305HP:0004305Involuntary movements0PDE2A CL E G H51388777OMIM:619150INTELLECTUAL DEVELOPMENTAL DISORDER WITH PAROXYSMAL DYSKINESIA OR SEIZURES; IDDPADS
HP:0004305HP:0004305Involuntary movements0PDE6D CL E G H51478788ORPHA:2754Orofaciodigital syndrome type 61
HP:0004305HP:0004305Involuntary movements0PDGFB CL E G H51558800OMIM:213600Basal ganglia calcification, idiopathic, 19
HP:0004305HP:0004305Involuntary movements0PDGFB CL E G H51558800OMIM:615483Basal ganglia calcification, idiopathic, 59
HP:0004305HP:0004305Involuntary movements0PDGFB CL E G H51558800ORPHA:2495Meningioma9
HP:0004305HP:0004305Involuntary movements0PDGFRB CL E G H51598804OMIM:213600Basal ganglia calcification, idiopathic, 128
HP:0004305HP:0004305Involuntary movements0PDHA1 CL E G H51608806OMIM:312170Pyruvate dehydrogenase e1-alpha deficiency88
HP:0004305HP:0004305Involuntary movements0PDK3 CL E G H51658811OMIM:300905Charcot-Marie-Tooth disease, X-linked dominant, 64
HP:0004305HP:0004305Involuntary movements0PDK3 CL E G H51658811ORPHA:352675X-linked Charcot-Marie-Tooth disease type 64
HP:0004305HP:0004305Involuntary movements0PDPN CL E G H1063029602ORPHA:16061p36 deletion syndrome
HP:0004305HP:0004305Involuntary movements0PDYN CL E G H51738820OMIM:610245Spinocerebellar ataxia 2352
HP:0004305HP:0004305Involuntary movements0PDZD8 CL E G H11898726974OMIM:620021
HP:0004305HP:0004305Involuntary movements0PET100 CL E G H10013180140038OMIM:619055MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 12; MC4DN126
HP:0004305HP:0004305Involuntary movements0PEX10 CL E G H51928851OMIM:614871Peroxisome biogenesis disorder 6B75
HP:0004305HP:0004305Involuntary movements0PEX16 CL E G H94098857OMIM:614877Peroxisome biogenesis disorder 8B59
HP:0004305HP:0004305Involuntary movements0PEX2 CL E G H58289717OMIM:614867Peroxisome biogenesis disorder 5B82
HP:0004305HP:0004305Involuntary movements0PEX6 CL E G H51908859ORPHA:95433Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome98
HP:0004305HP:0004305Involuntary movements0PFN1 CL E G H52168881OMIM:614808AMYOTROPHIC LATERAL SCLEROSIS 18; ALS186
HP:0004305HP:0004305Involuntary movements0PGAP1 CL E G H8005525712ORPHA:401820Autosomal recessive spastic paraplegia type 6720
HP:0004305HP:0004305Involuntary movements0PGAP1 CL E G H8005525712OMIM:615802MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42; MRT4220
HP:0004305HP:0004305Involuntary movements0PGAP2 CL E G H2731517893ORPHA:247262Hyperphosphatasia-intellectual disability syndrome8
HP:0004305HP:0004305Involuntary movements0PGAP3 CL E G H9321023719OMIM:615716Hyperphosphatasia with mental retardation syndrome 4.20
HP:0004305HP:0004305Involuntary movements0PGAP3 CL E G H9321023719ORPHA:247262Hyperphosphatasia-intellectual disability syndrome20
HP:0004305HP:0004305Involuntary movements0PGK1 CL E G H52308896ORPHA:713Glycogen storage disease due to phosphoglycerate kinase 1 deficiency21
HP:0004305HP:0004305Involuntary movements0PGM3 CL E G H52388907OMIM:615816Immunodeficiency 2315
HP:0004305HP:0004305Involuntary movements0PGM3 CL E G H52388907ORPHA:443811PGM3-CDG15
HP:0004305HP:0004305Involuntary movements0PHACTR1 CL E G H22169220990ORPHA:3451Infantile spasms syndrome1
HP:0004305HP:0004305Involuntary movements0PHGDH CL E G H262278923ORPHA:793513-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form37
HP:0004305HP:0004305Involuntary movements0PHIP CL E G H5502315673ORPHA:589905PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome11
HP:0004305HP:0004305Involuntary movements0PI4KA CL E G H52978983OMIM:619708GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 2; GIDID211
HP:0004305HP:0004305Involuntary movements0PI4KA CL E G H52978983OMIM:619621SPASTIC PARAPLEGIA 84, AUTOSOMAL RECESSIVE; SPG8411
HP:0004305HP:0004305Involuntary movements0PIBF1 CL E G H1046423352ORPHA:475Joubert syndrome4
HP:0004305HP:0004305Involuntary movements0PIGA CL E G H52778957ORPHA:3451Infantile spasms syndrome46
HP:0004305HP:0004305Involuntary movements0PIGA CL E G H52778957OMIM:301072NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS; NEDEPH46
HP:0004305HP:0004305Involuntary movements0PIGL CL E G H94878966ORPHA:247262Hyperphosphatasia-intellectual disability syndrome36
HP:0004305HP:0004305Involuntary movements0PIGN CL E G H235568967ORPHA:280633Multiple congenital anomalies-hypotonia-seizures syndrome37
HP:0004305HP:0004305Involuntary movements0PIGN CL E G H235568967OMIM:614080Multiple congenital anomalies-hypotonia-seizures syndrome 137
HP:0004305HP:0004305Involuntary movements0PIGO CL E G H8472023215ORPHA:247262Hyperphosphatasia-intellectual disability syndrome84
HP:0004305HP:0004305Involuntary movements0PIGP CL E G H512273046ORPHA:1934Early infantile epileptic encephalopathy2
HP:0004305HP:0004305Involuntary movements0PIGP CL E G H512273046OMIM:617599Epileptic encephalopathy, early infantile, 552
HP:0004305HP:0004305Involuntary movements0PIGQ CL E G H909114135ORPHA:1934Early infantile epileptic encephalopathy3
HP:0004305HP:0004305Involuntary movements0PIGT CL E G H5160414938OMIM:615398Multiple congenital anomalies-hypotonia-seizures syndrome 312
HP:0004305HP:0004305Involuntary movements0PIGV CL E G H5565026031OMIM:239300Hyperphosphatasia with mental retardation57
HP:0004305HP:0004305Involuntary movements0PIGV CL E G H5565026031ORPHA:247262Hyperphosphatasia-intellectual disability syndrome57
HP:0004305HP:0004305Involuntary movements0PIGW CL E G H28409823213ORPHA:247262Hyperphosphatasia-intellectual disability syndrome6
HP:0004305HP:0004305Involuntary movements0PIGY CL E G H8499228213ORPHA:247262Hyperphosphatasia-intellectual disability syndrome2
HP:0004305HP:0004305Involuntary movements0PIK3CA CL E G H52908975OMIM:615108Cowden syndrome 5162
HP:0004305HP:0004305Involuntary movements0PIK3CA CL E G H52908975ORPHA:99802Hemimegalencephaly162
HP:0004305HP:0004305Involuntary movements0PIK3CA CL E G H52908975ORPHA:2495Meningioma162
HP:0004305HP:0004305Involuntary movements0PIK3CD CL E G H52938977ORPHA:221139Combined immunodeficiency with faciooculoskeletal anomalies9
HP:0004305HP:0004305Involuntary movements0PIK3R5 CL E G H2353330035ORPHA:64753Spinocerebellar ataxia with axonal neuropathy type 211
HP:0004305HP:0004305Involuntary movements0PINK1 CL E G H6501814581OMIM:605909Parkinson disease 6, autosomal recessive early-onset55
HP:0004305HP:0004305Involuntary movements0PINK1 CL E G H6501814581ORPHA:2828Young-onset Parkinson disease55
HP:0004305HP:0004305Involuntary movements0PITRM1 CL E G H1053117663OMIM:619405SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 30; SCAR301
HP:0004305HP:0004305Involuntary movements0PITX3 CL E G H53099006OMIM:610623Cataract 11, multiple types6
HP:0004305HP:0004305Involuntary movements0PLA2G6 CL E G H83989039ORPHA:199351Adult-onset dystonia-parkinsonism133
HP:0004305HP:0004305Involuntary movements0PLA2G6 CL E G H83989039OMIM:610217Neurodegeneration with brain iron accumulation 2B133
HP:0004305HP:0004305Involuntary movements0PLA2G6 CL E G H83989039OMIM:612953Parkinson disease 14, autosomal recessive133
HP:0004305HP:0004305Involuntary movements0PLCB1 CL E G H2323615917ORPHA:3451Infantile spasms syndrome119
HP:0004305HP:0004305Involuntary movements0PLP1 CL E G H53549086OMIM:312080Pelizaeus-Merzbacher disease60
HP:0004305HP:0004305Involuntary movements0PLP1 CL E G H53549086ORPHA:280219Pelizaeus-Merzbacher disease, classic form60
HP:0004305HP:0004305Involuntary movements0PLP1 CL E G H53549086ORPHA:280210Pelizaeus-Merzbacher disease, connatal form60
HP:0004305HP:0004305Involuntary movements0PLPBP CL E G H112129457OMIM:617290Epilepsy, early-onset, vitamin b6-dependent6
HP:0004305HP:0004305Involuntary movements0PMM2 CL E G H53739115OMIM:212065Congenital disorder of glycosylation, type Ia150
HP:0004305HP:0004305Involuntary movements0PMP2 CL E G H53759117OMIM:618279Charcot-Marie-Tooth disease, demyelinating, type 1G1
HP:0004305HP:0004305Involuntary movements0PMP22 CL E G H53769118OMIM:145900Hypertrophic neuropathy of dejerine-sottas79
HP:0004305HP:0004305Involuntary movements0PMP22 CL E G H53769118ORPHA:3115Roussy-Lévy syndrome79
HP:0004305HP:0004305Involuntary movements0PMP22 CL E G H53769118OMIM:180800Roussy-Levy hereditary areflexic dystasia79
HP:0004305HP:0004305Involuntary movements0PMPCA CL E G H2320318667ORPHA:1170Autosomal recessive cerebelloparenchymal disorder type 37
HP:0004305HP:0004305Involuntary movements0PMPCA CL E G H2320318667OMIM:213200Spinocerebellar ataxia, autosomal recessive 27
HP:0004305HP:0004305Involuntary movements0PNKD CL E G H259539153ORPHA:98810Paroxysmal non-kinesigenic dyskinesiaHP:0040282 - Frequent66
HP:0004305HP:0004305Involuntary movements0PNKD CL E G H259539153OMIM:118800Paroxysmal nonkinesigenic dyskinesia 166
HP:0004305HP:0004305Involuntary movements0PNKP CL E G H112849154ORPHA:1934Early infantile epileptic encephalopathy244
HP:0004305HP:0004305Involuntary movements0PNP CL E G H48607892OMIM:613179Immunodeficiency due to purine nucleoside phosphorylase deficiency52
HP:0004305HP:0004305Involuntary movements0PNPLA2 CL E G H5710430802OMIM:610717Neutral lipid storage disease with myopathy65
HP:0004305HP:0004305Involuntary movements0PNPLA2 CL E G H5710430802ORPHA:98908Neutral lipid storage myopathy65
HP:0004305HP:0004305Involuntary movements0PNPLA6 CL E G H1090816268OMIM:215470Boucher-Neuhauser syndrome103
HP:0004305HP:0004305Involuntary movements0PNPO CL E G H5516330260ORPHA:79096Pyridoxal phosphate-responsive seizures92
HP:0004305HP:0004305Involuntary movements0PNPO CL E G H5516330260OMIM:610090Pyridoxamine 5-prime-phosphate oxidase deficiency92
HP:0004305HP:0004305Involuntary movements0PNPT1 CL E G H8717823166ORPHA:319514Combined oxidative phosphorylation defect type 1360
HP:0004305HP:0004305Involuntary movements0PNPT1 CL E G H8717823166OMIM:614932Combined oxidative phosphorylation deficiency 1360
HP:0004305HP:0004305Involuntary movements0PODXL CL E G H54209171ORPHA:391411Atypical juvenile parkinsonismHP:0040282 - Frequent6
HP:0004305HP:0004305Involuntary movements0PODXL CL E G H54209171ORPHA:2828Young-onset Parkinson disease6
HP:0004305HP:0004305Involuntary movements0POGZ CL E G H2312618801OMIM:616364White-Sutton syndrome35
HP:0004305HP:0004305Involuntary movements0POGZ CL E G H2312618801ORPHA:468678White-Sutton syndrome35
HP:0004305HP:0004305Involuntary movements0POLA1 CL E G H54229173OMIM:301030Van esch-o'driscoll syndrome2
HP:0004305HP:0004305Involuntary movements0POLG CL E G H54289179ORPHA:726Alpers-Huttenlocher syndrome464
HP:0004305HP:0004305Involuntary movements0POLG CL E G H54289179ORPHA:254892Autosomal dominant progressive external ophthalmoplegia464
HP:0004305HP:0004305Involuntary movements0POLG CL E G H54289179ORPHA:254886Autosomal recessive progressive external ophthalmoplegia464
HP:0004305HP:0004305Involuntary movements0POLG CL E G H54289179OMIM:203700Mitochondrial DNA depletion syndrome 4A (Alpers type)464
HP:0004305HP:0004305Involuntary movements0POLG CL E G H54289179OMIM:157640Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1464
HP:0004305HP:0004305Involuntary movements0POLG CL E G H54289179OMIM:258450Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive464
HP:0004305HP:0004305Involuntary movements0POLG CL E G H54289179OMIM:607459Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis464
HP:0004305HP:0004305Involuntary movements0POLG CL E G H54289179ORPHA:70595Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome464
HP:0004305HP:0004305Involuntary movements0POLG2 CL E G H112329180ORPHA:254892Autosomal dominant progressive external ophthalmoplegia45
HP:0004305HP:0004305Involuntary movements0POLR1C CL E G H953320194OMIM:616494Leukodystrophy, hypomyelinating, 1138
HP:0004305HP:0004305Involuntary movements0POLR3A CL E G H1112830074OMIM:607694Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism138
HP:0004305HP:0004305Involuntary movements0POLR3A CL E G H1112830074ORPHA:447896Tremor-ataxia-central hypomyelination syndrome138
HP:0004305HP:0004305Involuntary movements0POLR3A CL E G H1112830074ORPHA:3455Wiedemann-Rautenstrauch syndrome138
HP:0004305HP:0004305Involuntary movements0POLR3A CL E G H1112830074OMIM:264090Wiedemann-Rautenstrauch syndrome138
HP:0004305HP:0004305Involuntary movements0POLR3B CL E G H5570330348OMIM:607694Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism67
HP:0004305HP:0004305Involuntary movements0POLR3B CL E G H5570330348OMIM:614381Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism67
HP:0004305HP:0004305Involuntary movements0POLR3K CL E G H5172814121OMIM:619310LEUKODYSTROPHY, HYPOMYELINATING, 21; HLD21
HP:0004305HP:0004305Involuntary movements0POMGNT1 CL E G H5562419139ORPHA:370959Congenital muscular dystrophy with cerebellar involvement180
HP:0004305HP:0004305Involuntary movements0POMGNT1 CL E G H5562419139OMIM:253280Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3180
HP:0004305HP:0004305Involuntary movements0POMK CL E G H8419726267ORPHA:370959Congenital muscular dystrophy with cerebellar involvement18
HP:0004305HP:0004305Involuntary movements0POMT1 CL E G H105859202ORPHA:370959Congenital muscular dystrophy with cerebellar involvement213
HP:0004305HP:0004305Involuntary movements0POMT2 CL E G H2995419743ORPHA:370959Congenital muscular dystrophy with cerebellar involvement221
HP:0004305HP:0004305Involuntary movements0POU3F3 CL E G H54559216OMIM:618604SNIJDERS BLOK-FISHER SYNDROME; SNIBFIS
HP:0004305HP:0004305Involuntary movements0POU3F4 CL E G H54569217ORPHA:1435Xq21 microdeletion syndrome40
HP:0004305HP:0004305Involuntary movements0POU4F1 CL E G H54579218OMIM:619352ATAXIA, INTENTION TREMOR, AND HYPOTONIA SYNDROME, CHILDHOOD-ONSET; ATITHS
HP:0004305HP:0004305Involuntary movements0POU4F1 CL E G H54579218ORPHA:314647Non-progressive cerebellar ataxia with intellectual disability
HP:0004305HP:0004305Involuntary movements0PPP1R15B CL E G H8491914951OMIM:616817Microcephaly, short stature, and impaired glucose metabolism 22
HP:0004305HP:0004305Involuntary movements0PPP2R2B CL E G H55219305OMIM:604326Spinocerebellar ataxia 125
HP:0004305HP:0004305Involuntary movements0PPP2R2B CL E G H55219305ORPHA:98762Spinocerebellar ataxia type 125
HP:0004305HP:0004305Involuntary movements0PPP2R5D CL E G H55289312ORPHA:457279Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome10
HP:0004305HP:0004305Involuntary movements0PPP3CA CL E G H55309314ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional2
HP:0004305HP:0004305Involuntary movements0PPT1 CL E G H55389325OMIM:256730Ceroid lipofuscinosis, neuronal, 1172
HP:0004305HP:0004305Involuntary movements0PRDM16 CL E G H6397614000ORPHA:16061p36 deletion syndrome148
HP:0004305HP:0004305Involuntary movements0PRDM8 CL E G H5697813993ORPHA:324290Early-onset Lafora body disease1
HP:0004305HP:0004305Involuntary movements0PRDM8 CL E G H5697813993OMIM:616640Epilepsy, progressive myoclonic, 101
HP:0004305HP:0004305Involuntary movements0PRDX1 CL E G H50529352OMIM:277400Methylmalonic aciduria and homocystinuria, Cblc type
HP:0004305HP:0004305Involuntary movements0PRDX3 CL E G H109359354OMIM:619862
HP:0004305HP:0004305Involuntary movements0PRICKLE1 CL E G H14416517019OMIM:612437Epilepsy, progressive myoclonic 1B133
HP:0004305HP:0004305Involuntary movements0PRICKLE1 CL E G H14416517019ORPHA:308Progressive myoclonic epilepsy type 1133
HP:0004305HP:0004305Involuntary movements0PRKAR1B CL E G H55759390OMIM:619680MARBACH-SCHAAF NEURODEVELOPMENTAL SYNDROME; MASNS2
HP:0004305HP:0004305Involuntary movements0PRKCG CL E G H55829402ORPHA:98763Spinocerebellar ataxia type 1483
HP:0004305HP:0004305Involuntary movements0PRKCZ CL E G H55909412ORPHA:16061p36 deletion syndrome
HP:0004305HP:0004305Involuntary movements0PRKN CL E G H50718607OMIM:600116Parkinson disease, juvenile, type 2138
HP:0004305HP:0004305Involuntary movements0PRKN CL E G H50718607ORPHA:2828Young-onset Parkinson disease138
HP:0004305HP:0004305Involuntary movements0PRKRA CL E G H85759438OMIM:612067Dystonia 16.37
HP:0004305HP:0004305Involuntary movements0PRKRA CL E G H85759438ORPHA:210571Dystonia 1637
HP:0004305HP:0004305Involuntary movements0PRNP CL E G H56219449OMIM:123400Creutzfeldt-Jakob disease69
HP:0004305HP:0004305Involuntary movements0PRNP CL E G H56219449OMIM:600072Fatal familial insomnia69
HP:0004305HP:0004305Involuntary movements0PRNP CL E G H56219449OMIM:137440Gerstmann-Straussler disease69
HP:0004305HP:0004305Involuntary movements0PRNP CL E G H56219449ORPHA:356Gerstmann-Straussler-Scheinker syndrome69
HP:0004305HP:0004305Involuntary movements0PRNP CL E G H56219449ORPHA:157941Huntington disease-like 1HP:0040282 - Frequent69
HP:0004305HP:0004305Involuntary movements0PRNP CL E G H56219449OMIM:603218Huntington disease-like 169
HP:0004305HP:0004305Involuntary movements0PRNP CL E G H56219449ORPHA:282166Inherited Creutzfeldt-Jakob disease69
HP:0004305HP:0004305Involuntary movements0PRODH CL E G H56259453OMIM:239500Hyperprolinemia, type I13
HP:0004305HP:0004305Involuntary movements0PROK2 CL E G H6067518455ORPHA:478Kallmann syndrome9
HP:0004305HP:0004305Involuntary movements0PROKR2 CL E G H12867415836ORPHA:478Kallmann syndrome34
HP:0004305HP:0004305Involuntary movements0PRORP CL E G H969219958OMIM:619737COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 54; COXPD54
HP:0004305HP:0004305Involuntary movements0PRPH CL E G H56309461OMIM:105400Amyotrophic lateral sclerosis 125
HP:0004305HP:0004305Involuntary movements0PRPS1 CL E G H56319462ORPHA:99014X-linked Charcot-Marie-Tooth disease type 549
HP:0004305HP:0004305Involuntary movements0PRPS1 CL E G H56319462ORPHA:423479X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome49
HP:0004305HP:0004305Involuntary movements0PRRT2 CL E G H11247630500ORPHA:306Benign familial infantile epilepsy94
HP:0004305HP:0004305Involuntary movements0PRRT2 CL E G H11247630500OMIM:602066Convulsions, familial infantile, with paroxysmal choreoathetosis94
HP:0004305HP:0004305Involuntary movements0PRRT2 CL E G H11247630500OMIM:128200Episodic kinesigenic dyskinesia 194
HP:0004305HP:0004305Involuntary movements0PRRT2 CL E G H11247630500ORPHA:569Familial or sporadic hemiplegic migraineHP:0040282 - Frequent94
HP:0004305HP:0004305Involuntary movements0PRRT2 CL E G H11247630500ORPHA:31709Infantile convulsions and choreoathetosisHP:0040282 - Frequent94
HP:0004305HP:0004305Involuntary movements0PRRT2 CL E G H11247630500ORPHA:98811Paroxysmal exertion-induced dyskinesiaHP:0040282 - Frequent94
HP:0004305HP:0004305Involuntary movements0PRRT2 CL E G H11247630500ORPHA:98809Paroxysmal kinesigenic dyskinesiaHP:0040281 - Very frequent94
HP:0004305HP:0004305Involuntary movements0PRRT2 CL E G H11247630500ORPHA:98810Paroxysmal non-kinesigenic dyskinesiaHP:0040282 - Frequent94
HP:0004305HP:0004305Involuntary movements0PRUNE1 CL E G H5849713420OMIM:617481Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies8
HP:0004305HP:0004305Involuntary movements0PRUNE1 CL E G H5849713420ORPHA:544469PRUNE1-related neurological syndrome8
HP:0004305HP:0004305Involuntary movements0PRX CL E G H5771613797OMIM:145900Hypertrophic neuropathy of dejerine-sottas170
HP:0004305HP:0004305Involuntary movements0PSAP CL E G H56609498OMIM:611721Combined saposin deficiency81
HP:0004305HP:0004305Involuntary movements0PSAP CL E G H56609498ORPHA:139406Encephalopathy due to prosaposin deficiency81
HP:0004305HP:0004305Involuntary movements0PSAP CL E G H56609498OMIM:610539Gaucher disease, atypical81
HP:0004305HP:0004305Involuntary movements0PSAP CL E G H56609498ORPHA:206436Infantile Krabbe disease81
HP:0004305HP:0004305Involuntary movements0PSAP CL E G H56609498ORPHA:309271Metachromatic leukodystrophy, adult form81
HP:0004305HP:0004305Involuntary movements0PSAP CL E G H56609498ORPHA:309263Metachromatic leukodystrophy, juvenile form81
HP:0004305HP:0004305Involuntary movements0PSAP CL E G H56609498OMIM:619491PARKINSON DISEASE 24, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO; PARK2481
HP:0004305HP:0004305Involuntary movements0PSAT1 CL E G H2996819129OMIM:610992Phosphoserine aminotransferase deficiency27
HP:0004305HP:0004305Involuntary movements0PSAT1 CL E G H2996819129ORPHA:284417Phosphoserine aminotransferase deficiency, infantile/juvenile form27
HP:0004305HP:0004305Involuntary movements0PSEN1 CL E G H56639508OMIM:607822Alzheimer disease 3241
HP:0004305HP:0004305Involuntary movements0PSEN1 CL E G H56639508ORPHA:275864Behavioral variant of frontotemporal dementia241
HP:0004305HP:0004305Involuntary movements0PSEN1 CL E G H56639508ORPHA:1020Early-onset autosomal dominant Alzheimer disease241
HP:0004305HP:0004305Involuntary movements0PSEN1 CL E G H56639508OMIM:172700Pick disease of brain241
HP:0004305HP:0004305Involuntary movements0PSEN2 CL E G H56649509ORPHA:1020Early-onset autosomal dominant Alzheimer disease59
HP:0004305HP:0004305Involuntary movements0PSMC1 CL E G H57009547OMIM:6200711
HP:0004305HP:0004305Involuntary movements0PTCD3 CL E G H5503724717OMIM:619057COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 51; COXPD51
HP:0004305HP:0004305Involuntary movements0PTCHD1 CL E G H13941126392OMIM:300830Autism, susceptibility to, X-linked 434
HP:0004305HP:0004305Involuntary movements0PTEN CL E G H57289588OMIM:158350Cowden syndrome 1948
HP:0004305HP:0004305Involuntary movements0PTH CL E G H57419606OMIM:146200Hypoparathyroidism, familial isolated16
HP:0004305HP:0004305Involuntary movements0PTS CL E G H58059689ORPHA:136-pyruvoyl-tetrahydropterin synthase deficiency19
HP:0004305HP:0004305Involuntary movements0PTS CL E G H58059689OMIM:261640Hyperphenylalaninemia, BH4-deficient, A19
HP:0004305HP:0004305Involuntary movements0PUF60 CL E G H2282717042ORPHA:5084888q24.3 microdeletion syndrome19
HP:0004305HP:0004305Involuntary movements0PUF60 CL E G H2282717042ORPHA:508498Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome19
HP:0004305HP:0004305Involuntary movements0PUM1 CL E G H969814957OMIM:617931Spinocerebellar ataxia 471
HP:0004305HP:0004305Involuntary movements0PURA CL E G H58139701OMIM:616158Mental retardation, autosomal dominant 3153
HP:0004305HP:0004305Involuntary movements0PURA CL E G H58139701ORPHA:314655Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion53
HP:0004305HP:0004305Involuntary movements0PUS7 CL E G H5451726033OMIM:618342Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature
HP:0004305HP:0004305Involuntary movements0PYCR1 CL E G H58319721OMIM:614438Cutis laxa, autosomal recessive, type IIIB53
HP:0004305HP:0004305Involuntary movements0QDPR CL E G H58609752OMIM:261630Hyperphenylalaninemia, bh4-deficient, C43
HP:0004305HP:0004305Involuntary movements0QRICH1 CL E G H5487024713OMIM:617982VERVERI-BRADY SYNDROME; VERBRAS
HP:0004305HP:0004305Involuntary movements0RAB11B CL E G H92309761OMIM:617807Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter
HP:0004305HP:0004305Involuntary movements0RAB18 CL E G H2293114244OMIM:614222Warburg micro syndrome 385
HP:0004305HP:0004305Involuntary movements0RAB39B CL E G H11644216499OMIM:300271Mental retardation, X-linked 7234
HP:0004305HP:0004305Involuntary movements0RAB39B CL E G H11644216499OMIM:311510Waisman syndrome34
HP:0004305HP:0004305Involuntary movements0RAB3GAP2 CL E G H2578217168ORPHA:401830Autosomal recessive spastic paraplegia type 69135
HP:0004305HP:0004305Involuntary movements0RAB3GAP2 CL E G H2578217168OMIM:212720Martsolf syndrome 1135
HP:0004305HP:0004305Involuntary movements0RAB7A CL E G H78799788OMIM:600882Charcot-Marie-Tooth disease, axonal, type 2B50
HP:0004305HP:0004305Involuntary movements0RAC1 CL E G H58799801OMIM:617751Mental retardation, autosomal dominant 483
HP:0004305HP:0004305Involuntary movements0RAC1 CL E G H58799801ORPHA:500159Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom3
HP:0004305HP:0004305Involuntary movements0RAI1 CL E G H107439834ORPHA:819Smith-Magenis syndrome150
HP:0004305HP:0004305Involuntary movements0RAI1 CL E G H107439834OMIM:182290Smith-Magenis syndrome150
HP:0004305HP:0004305Involuntary movements0RAPGEF2 CL E G H969316854OMIM:618075EPILEPSY, FAMILIAL ADULT MYOCLONIC, 7; FAME7
HP:0004305HP:0004305Involuntary movements0RARS1 CL E G H59179870OMIM:616140Leukodystrophy, hypomyelinating, 9
HP:0004305HP:0004305Involuntary movements0RARS1 CL E G H59179870ORPHA:438114RARS-related autosomal recessive hypomyelinating leukodystrophy
HP:0004305HP:0004305Involuntary movements0RBL2 CL E G H59349894OMIM:619690BRUNET-WAGNER NEURODEVELOPMENTAL SYNDROME; BRUWAG
HP:0004305HP:0004305Involuntary movements0REEP1 CL E G H6505525786OMIM:610250Spastic paraplegia 31, autosomal dominant87
HP:0004305HP:0004305Involuntary movements0REEP2 CL E G H5130817975ORPHA:401849Autosomal spastic paraplegia type 723
HP:0004305HP:0004305Involuntary movements0RERE CL E G H4739965ORPHA:16061p36 deletion syndrome16
HP:0004305HP:0004305Involuntary movements0RET CL E G H59799967ORPHA:29072Hereditary pheochromocytoma-paraganglioma572
HP:0004305HP:0004305Involuntary movements0RET CL E G H59799967ORPHA:276621Sporadic pheochromocytoma/secreting paraganglioma572
HP:0004305HP:0004305Involuntary movements0RFC1 CL E G H59819969ORPHA:504476Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome
HP:0004305HP:0004305Involuntary movements0RFC2 CL E G H59829970ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0004305HP:0004305Involuntary movements0RFT1 CL E G H9186930220OMIM:612015Congenital disorder of glycosylation, type IN92
HP:0004305HP:0004305Involuntary movements0RHOBTB2 CL E G H2322118756OMIM:618004Epileptic encephalopathy, early infantile, 641
HP:0004305HP:0004305Involuntary movements0RILPL1 CL E G H35311626814OMIM:619790OCULOPHARYNGODISTAL MYOPATHY 4; OPDM4
HP:0004305HP:0004305Involuntary movements0RLIM CL E G H5113213429OMIM:300978Tonne-Kalscheuer syndrome7
HP:0004305HP:0004305Involuntary movements0RMND1 CL E G H5500521176OMIM:614922Combined oxidative phosphorylation deficiency 1126
HP:0004305HP:0004305Involuntary movements0RNASEH2A CL E G H1053518518ORPHA:51Aicardi-Goutières syndrome33
HP:0004305HP:0004305Involuntary movements0RNASEH2B CL E G H7962125671ORPHA:51Aicardi-Goutières syndrome34
HP:0004305HP:0004305Involuntary movements0RNASEH2C CL E G H8415324116ORPHA:51Aicardi-Goutières syndrome60
HP:0004305HP:0004305Involuntary movements0RNASET2 CL E G H863521686OMIM:612951Leukoencephalopathy, cystic, without megalencephaly37
HP:0004305HP:0004305Involuntary movements0RNF113A CL E G H773712974ORPHA:33364Trichothiodystrophy3
HP:0004305HP:0004305Involuntary movements0RNU12 CL E G H26701019380ORPHA:512260Congenital cerebellar ataxia due to RNU12 mutation
HP:0004305HP:0004305Involuntary movements0RNU7-1 CL E G H10014774434033ORPHA:51Aicardi-Goutières syndrome
HP:0004305HP:0004305Involuntary movements0RORA CL E G H609510258OMIM:618060INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT EPILEPSY OR CEREBELLAR ATAXIA; IDDECA1
HP:0004305HP:0004305Involuntary movements0RORB CL E G H609610259OMIM:618357Epilepsy, idiopathic generalized, susceptibility to, 153
HP:0004305HP:0004305Involuntary movements0RPE65 CL E G H612110294OMIM:204100Leber congenital amaurosis, type II129
HP:0004305HP:0004305Involuntary movements0RPGRIP1L CL E G H2332229168ORPHA:1454Joubert syndrome with hepatic defect167
HP:0004305HP:0004305Involuntary movements0RPGRIP1L CL E G H2332229168ORPHA:220497Joubert syndrome with renal defect167
HP:0004305HP:0004305Involuntary movements0RPL10 CL E G H613410298OMIM:300998MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS3510
HP:0004305HP:0004305Involuntary movements0RRM2B CL E G H5048417296ORPHA:254892Autosomal dominant progressive external ophthalmoplegia125
HP:0004305HP:0004305Involuntary movements0RTN2 CL E G H625310468ORPHA:100993Autosomal dominant spastic paraplegia type 1225
HP:0004305HP:0004305Involuntary movements0RTN2 CL E G H625310468OMIM:604805Spastic paraplegia 12, autosomal dominant25
HP:0004305HP:0004305Involuntary movements0RTTN CL E G H2591418654ORPHA:468631Microcephalic cortical malformations-short stature due to RTTN deficiency113
HP:0004305HP:0004305Involuntary movements0RUSC2 CL E G H985323625OMIM:617773Mental retardation, autosomal recessive 61
HP:0004305HP:0004305Involuntary movements0RYR1 CL E G H626110483ORPHA:324581Benign Samaritan congenital myopathy1200
HP:0004305HP:0004305Involuntary movements0SACS CL E G H2627810519ORPHA:98Autosomal recessive spastic ataxia of Charlevoix-Saguenay309
HP:0004305HP:0004305Involuntary movements0SAMD12 CL E G H40147431750ORPHA:86814Benign adult familial myoclonic epilepsy2
HP:0004305HP:0004305Involuntary movements0SAMD12 CL E G H40147431750OMIM:601068Epilepsy, familial adult myoclonic, 12
HP:0004305HP:0004305Involuntary movements0SAMD9L CL E G H2192851349OMIM:159550Ataxia-Pancytopenia syndrome4
HP:0004305HP:0004305Involuntary movements0SAMHD1 CL E G H2593915925ORPHA:51Aicardi-Goutières syndrome55
HP:0004305HP:0004305Involuntary movements0SATB1 CL E G H630410541OMIM:619229KOHLSCHUTTER-TONZ SYNDROME-LIKE; KTZSL
HP:0004305HP:0004305Involuntary movements0SBF2 CL E G H818462135ORPHA:99956Charcot-Marie-Tooth disease type 4B2180
HP:0004305HP:0004305Involuntary movements0SC5D CL E G H630910547ORPHA:46059Lathosterolosis80
HP:0004305HP:0004305Involuntary movements0SCARB2 CL E G H9501665OMIM:254900Epilepsy, progressive myoclonic, 4, with or without renal failure77
HP:0004305HP:0004305Involuntary movements0SCARB2 CL E G H9501665ORPHA:308Progressive myoclonic epilepsy type 177
HP:0004305HP:0004305Involuntary movements0SCN1A CL E G H632310585OMIM:619317DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 6B; DEE6B1053
HP:0004305HP:0004305Involuntary movements0SCN1A CL E G H632310585ORPHA:33069Dravet syndrome1053
HP:0004305HP:0004305Involuntary movements0SCN1A CL E G H632310585ORPHA:569Familial or sporadic hemiplegic migraineHP:0040282 - Frequent1053
HP:0004305HP:0004305Involuntary movements0SCN1A CL E G H632310585ORPHA:36387Generalized epilepsy with febrile seizures-plus1053
HP:0004305HP:0004305Involuntary movements0SCN1A CL E G H632310585ORPHA:2382Lennox-Gastaut syndrome1053
HP:0004305HP:0004305Involuntary movements0SCN1A CL E G H632310585ORPHA:1942Myoclonic-astatic epilepsy1053
HP:0004305HP:0004305Involuntary movements0SCN1B CL E G H632410586ORPHA:33069Dravet syndrome126
HP:0004305HP:0004305Involuntary movements0SCN1B CL E G H632410586ORPHA:1934Early infantile epileptic encephalopathy126
HP:0004305HP:0004305Involuntary movements0SCN1B CL E G H632410586ORPHA:36387Generalized epilepsy with febrile seizures-plus126
HP:0004305HP:0004305Involuntary movements0SCN2A CL E G H632610588ORPHA:306Benign familial infantile epilepsy427
HP:0004305HP:0004305Involuntary movements0SCN2A CL E G H632610588ORPHA:33069Dravet syndrome427
HP:0004305HP:0004305Involuntary movements0SCN2A CL E G H632610588ORPHA:1934Early infantile epileptic encephalopathy427
HP:0004305HP:0004305Involuntary movements0SCN2A CL E G H632610588ORPHA:36387Generalized epilepsy with febrile seizures-plus427
HP:0004305HP:0004305Involuntary movements0SCN2A CL E G H632610588ORPHA:3451Infantile spasms syndrome427
HP:0004305HP:0004305Involuntary movements0SCN3A CL E G H632810590ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional70
HP:0004305HP:0004305Involuntary movements0SCN4A CL E G H632910591ORPHA:682Hyperkalemic periodic paralysis263
HP:0004305HP:0004305Involuntary movements0SCN8A CL E G H633410596ORPHA:306Benign familial infantile epilepsy357
HP:0004305HP:0004305Involuntary movements0SCN8A CL E G H633410596ORPHA:31709Infantile convulsions and choreoathetosisHP:0040282 - Frequent357
HP:0004305HP:0004305Involuntary movements0SCN8A CL E G H633410596OMIM:618364MYOCLONUS, FAMILIAL, 2; MYOCL2357
HP:0004305HP:0004305Involuntary movements0SCN8A CL E G H633410596ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional357
HP:0004305HP:0004305Involuntary movements0SCN9A CL E G H633510597ORPHA:33069Dravet syndrome318
HP:0004305HP:0004305Involuntary movements0SCN9A CL E G H633510597ORPHA:36387Generalized epilepsy with febrile seizures-plus318
HP:0004305HP:0004305Involuntary movements0SCO2 CL E G H999710604ORPHA:521411Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect40
HP:0004305HP:0004305Involuntary movements0SCO2 CL E G H999710604ORPHA:70474Leigh syndrome with cardiomyopathyHP:0040283 - Occasional40
HP:0004305HP:0004305Involuntary movements0SCP2 CL E G H634210606OMIM:613724Leukoencephalopathy with dystonia and motor neuropathy4
HP:0004305HP:0004305Involuntary movements0SCYL1 CL E G H5741014372ORPHA:466794Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome5
HP:0004305HP:0004305Involuntary movements0SCYL1 CL E G H5741014372OMIM:616719Spinocerebellar ataxia, autosomal recessive 215
HP:0004305HP:0004305Involuntary movements0SCYL2 CL E G H5568119286ORPHA:1143Neurogenic arthrogryposis multiplex congenita
HP:0004305HP:0004305Involuntary movements0SDHA CL E G H638910680ORPHA:29072Hereditary pheochromocytoma-paraganglioma304
HP:0004305HP:0004305Involuntary movements0SDHA CL E G H638910680OMIM:252011Mitochondrial complex II deficiency304
HP:0004305HP:0004305Involuntary movements0SDHAF2 CL E G H5494926034ORPHA:29072Hereditary pheochromocytoma-paraganglioma55
HP:0004305HP:0004305Involuntary movements0SDHB CL E G H639010681ORPHA:29072Hereditary pheochromocytoma-paraganglioma237
HP:0004305HP:0004305Involuntary movements0SDHB CL E G H639010681ORPHA:276621Sporadic pheochromocytoma/secreting paraganglioma237
HP:0004305HP:0004305Involuntary movements0SDHC CL E G H639110682ORPHA:29072Hereditary pheochromocytoma-paraganglioma147
HP:0004305HP:0004305Involuntary movements0SDHD CL E G H639210683ORPHA:29072Hereditary pheochromocytoma-paraganglioma129
HP:0004305HP:0004305Involuntary movements0SDHD CL E G H639210683OMIM:619167MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 3; MC2DN3129
HP:0004305HP:0004305Involuntary movements0SDHD CL E G H639210683ORPHA:276621Sporadic pheochromocytoma/secreting paraganglioma129
HP:0004305HP:0004305Involuntary movements0SELENOI CL E G H8546529361ORPHA:506353Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction
HP:0004305HP:0004305Involuntary movements0SELENOI CL E G H8546529361OMIM:618768SPASTIC PARAPLEGIA 81, AUTOSOMAL RECESSIVE; SPG81
HP:0004305HP:0004305Involuntary movements0SEMA3A CL E G H1037110723ORPHA:478Kallmann syndrome14
HP:0004305HP:0004305Involuntary movements0SEMA6B CL E G H1050110739OMIM:618876EPILEPSY, PROGRESSIVE MYOCLONIC, 11; EPM11
HP:0004305HP:0004305Involuntary movements0SEPSECS CL E G H5109130605ORPHA:2524Pontocerebellar hypoplasia type 266
HP:0004305HP:0004305Involuntary movements0SEPSECS CL E G H5109130605OMIM:613811Pontocerebellar hypoplasia, type 2D66
HP:0004305HP:0004305Involuntary movements0SERPINI1 CL E G H52748943OMIM:604218Encephalopathy, familial, with neuroserpin inclusion bodies28
HP:0004305HP:0004305Involuntary movements0SETD2 CL E G H2907218420ORPHA:821Sotos syndrome60
HP:0004305HP:0004305Involuntary movements0SETX CL E G H23064445OMIM:602433Amyotrophic lateral sclerosis 4, juvenile162
HP:0004305HP:0004305Involuntary movements0SETX CL E G H23064445ORPHA:64753Spinocerebellar ataxia with axonal neuropathy type 2162
HP:0004305HP:0004305Involuntary movements0SETX CL E G H23064445OMIM:606002Spinocerebellar ataxia, autosomal recessive 1162
HP:0004305HP:0004305Involuntary movements0SFXN4 CL E G H11955916088OMIM:615578Combined oxidative phosphorylation deficiency 1817
HP:0004305HP:0004305Involuntary movements0SGCE CL E G H891010808OMIM:159900Dystonia 11, myoclonic49
HP:0004305HP:0004305Involuntary movements0SGCE CL E G H891010808ORPHA:36899Myoclonus-dystonia syndrome49
HP:0004305HP:0004305Involuntary movements0SH2B1 CL E G H2597030417ORPHA:261197Proximal 16p11.2 microdeletion syndrome
HP:0004305HP:0004305Involuntary movements0SH3TC2 CL E G H7962829427ORPHA:99949Charcot-Marie-Tooth disease type 4C493
HP:0004305HP:0004305Involuntary movements0SH3TC2 CL E G H7962829427OMIM:601596Charcot-Marie-Tooth disease, type 4C493
HP:0004305HP:0004305Involuntary movements0SHANK3 CL E G H8535814294OMIM:606232Phelan-Mcdermid syndrome53
HP:0004305HP:0004305Involuntary movements0SHMT2 CL E G H647210852OMIM:619121NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES; NEDCASB
HP:0004305HP:0004305Involuntary movements0SHQ1 CL E G H5516425543OMIM:619922
HP:0004305HP:0004305Involuntary movements0SIGMAR1 CL E G H102808157ORPHA:300605Juvenile amyotrophic lateral sclerosis6
HP:0004305HP:0004305Involuntary movements0SIK1 CL E G H15009411142OMIM:616341Deafness, autosomal dominant 6711
HP:0004305HP:0004305Involuntary movements0SIK1 CL E G H15009411142ORPHA:1934Early infantile epileptic encephalopathy11
HP:0004305HP:0004305Involuntary movements0SIK1 CL E G H15009411142ORPHA:1935Early myoclonic encephalopathy11
HP:0004305HP:0004305Involuntary movements0SIK1 CL E G H15009411142ORPHA:3451Infantile spasms syndrome11
HP:0004305HP:0004305Involuntary movements0SKI CL E G H649710896ORPHA:16061p36 deletion syndrome150
HP:0004305HP:0004305Involuntary movements0SLC12A6 CL E G H999010914OMIM:218000Agenesis of the corpus callosum with peripheral neuropathy163
HP:0004305HP:0004305Involuntary movements0SLC13A5 CL E G H28411123089OMIM:615905Epileptic encephalopathy, early infantile, 25, with amelogenesis imperfecta.73
HP:0004305HP:0004305Involuntary movements0SLC13A5 CL E G H28411123089ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional73
HP:0004305HP:0004305Involuntary movements0SLC16A2 CL E G H656710923ORPHA:59Allan-Herndon-Dudley syndrome57
HP:0004305HP:0004305Involuntary movements0SLC16A2 CL E G H656710923OMIM:300523Allan-Herndon-Dudley syndrome57
HP:0004305HP:0004305Involuntary movements0SLC17A5 CL E G H2650310933OMIM:604369Salla disease78
HP:0004305HP:0004305Involuntary movements0SLC18A2 CL E G H657110935ORPHA:352649Brain dopamine-serotonin vesicular transport disease2
HP:0004305HP:0004305Involuntary movements0SLC18A2 CL E G H657110935OMIM:618049Parkinsonism-Dystonia, infantile, 22
HP:0004305HP:0004305Involuntary movements0SLC19A3 CL E G H8070416266OMIM:607483Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2)110
HP:0004305HP:0004305Involuntary movements0SLC1A2 CL E G H650610940ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional3
HP:0004305HP:0004305Involuntary movements0SLC1A3 CL E G H650710941ORPHA:2131Alternating hemiplegia of childhood63
HP:0004305HP:0004305Involuntary movements0SLC1A4 CL E G H650910942OMIM:616657Spastic tetraplegia, thin corpus callosum, and progressive microcephaly4
HP:0004305HP:0004305Involuntary movements0SLC1A4 CL E G H650910942ORPHA:447997Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome4
HP:0004305HP:0004305Involuntary movements0SLC20A2 CL E G H657510947OMIM:213600Basal ganglia calcification, idiopathic, 170
HP:0004305HP:0004305Involuntary movements0SLC25A10 CL E G H146810980OMIM:618972MITOCHONDRIAL DNA DEPLETION SYNDROME 19; MTDPS19
HP:0004305HP:0004305Involuntary movements0SLC25A11 CL E G H840210981ORPHA:29072Hereditary pheochromocytoma-paraganglioma
HP:0004305HP:0004305Involuntary movements0SLC25A12 CL E G H860410982OMIM:612949Epileptic encephalopathy, early infantile, 3944
HP:0004305HP:0004305Involuntary movements0SLC25A13 CL E G H1016510983ORPHA:247585Citrullinemia type II82
HP:0004305HP:0004305Involuntary movements0SLC25A15 CL E G H1016610985OMIM:238970Hyperornithinemia-Hyperammonemia-Homocitrullinuria syndrome88
HP:0004305HP:0004305Involuntary movements0SLC25A15 CL E G H1016610985ORPHA:415Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome88
HP:0004305HP:0004305Involuntary movements0SLC25A21 CL E G H8987414411OMIM:618811MITOCHONDRIAL DNA DEPLETION SYNDROME 18; MTDPS18
HP:0004305HP:0004305Involuntary movements0SLC25A22 CL E G H7975119954ORPHA:1934Early infantile epileptic encephalopathy166
HP:0004305HP:0004305Involuntary movements0SLC25A22 CL E G H7975119954ORPHA:1935Early myoclonic encephalopathy166
HP:0004305HP:0004305Involuntary movements0SLC25A4 CL E G H29110990ORPHA:254892Autosomal dominant progressive external ophthalmoplegia68
HP:0004305HP:0004305Involuntary movements0SLC25A42 CL E G H28443928380OMIM:618416Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression1
HP:0004305HP:0004305Involuntary movements0SLC25A46 CL E G H9113725198OMIM:616505Neuropathy, hereditary motor and sensory, type VIB14
HP:0004305HP:0004305Involuntary movements0SLC25A46 CL E G H9113725198ORPHA:2254Pontocerebellar hypoplasia type 114
HP:0004305HP:0004305Involuntary movements0SLC25A46 CL E G H9113725198OMIM:619303PONTOCEREBELLAR HYPOPLASIA, TYPE 1E; PCH1E14
HP:0004305HP:0004305Involuntary movements0SLC2A1 CL E G H651311005ORPHA:64280Childhood absence epilepsy255
HP:0004305HP:0004305Involuntary movements0SLC2A1 CL E G H651311005ORPHA:71277Classic glucose transporter type 1 deficiency syndrome255
HP:0004305HP:0004305Involuntary movements0SLC2A1 CL E G H651311005OMIM:601042Dystonia 9255
HP:0004305HP:0004305Involuntary movements0SLC2A1 CL E G H651311005OMIM:606777Glut1 deficiency syndrome 1255
HP:0004305HP:0004305Involuntary movements0SLC2A1 CL E G H651311005OMIM:612126Glut1 deficiency syndrome 2255
HP:0004305HP:0004305Involuntary movements0SLC2A1 CL E G H651311005ORPHA:1942Myoclonic-astatic epilepsy255
HP:0004305HP:0004305Involuntary movements0SLC2A1 CL E G H651311005ORPHA:53583Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity255
HP:0004305HP:0004305Involuntary movements0SLC2A1 CL E G H651311005ORPHA:98811Paroxysmal exertion-induced dyskinesiaHP:0040282 - Frequent255
HP:0004305HP:0004305Involuntary movements0SLC2A3 CL E G H651511007ORPHA:399Huntington diseaseHP:0040282 - Frequent1
HP:0004305HP:0004305Involuntary movements0SLC30A10 CL E G H5553225355ORPHA:309854Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome42
HP:0004305HP:0004305Involuntary movements0SLC30A10 CL E G H5553225355OMIM:613280Hypermanganesemia with dystonia 142
HP:0004305HP:0004305Involuntary movements0SLC30A9 CL E G H104631329OMIM:617595Birk-Landau-Perez syndrome1
HP:0004305HP:0004305Involuntary movements0SLC33A1 CL E G H919795ORPHA:171863Autosomal dominant spastic paraplegia type 4248
HP:0004305HP:0004305Involuntary movements0SLC38A3 CL E G H1099118044ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional
HP:0004305HP:0004305Involuntary movements0SLC39A14 CL E G H2351620858ORPHA:521406Dystonia-parkinsonism-hypermanganesemia syndrome5
HP:0004305HP:0004305Involuntary movements0SLC39A14 CL E G H2351620858OMIM:617013Hypermanganesemia with dystonia 25
HP:0004305HP:0004305Involuntary movements0SLC39A4 CL E G H5563017129OMIM:201100Acrodermatitis enteropathica, Zinc-Deficiency type55
HP:0004305HP:0004305Involuntary movements0SLC44A1 CL E G H2344618798OMIM:618868NEURODEGENERATION, CHILDHOOD-ONSET, WITH ATAXIA, TREMOR, OPTIC ATROPHY, AND COGNITIVE DECLINE; CONATOC1
HP:0004305HP:0004305Involuntary movements0SLC46A1 CL E G H11323530521OMIM:229050Folate malabsorption, hereditary101
HP:0004305HP:0004305Involuntary movements0SLC52A2 CL E G H7958130224OMIM:614707Brown-Vialetto-Van laere syndrome 247
HP:0004305HP:0004305Involuntary movements0SLC52A3 CL E G H11327816187OMIM:211530Brown-Vialetto-Van laere syndrome 151
HP:0004305HP:0004305Involuntary movements0SLC5A7 CL E G H6048214025OMIM:158580Neuronopathy, distal hereditary motor, type VIIA9
HP:0004305HP:0004305Involuntary movements0SLC6A1 CL E G H652911042ORPHA:1942Myoclonic-astatic epilepsy29
HP:0004305HP:0004305Involuntary movements0SLC6A1 CL E G H652911042OMIM:616421Myoclonic-Atonic epilepsy29
HP:0004305HP:0004305Involuntary movements0SLC6A17 CL E G H38866231399OMIM:616269Mental retardation, autosomal recessive 4812
HP:0004305HP:0004305Involuntary movements0SLC6A17 CL E G H38866231399ORPHA:457212Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome12
HP:0004305HP:0004305Involuntary movements0SLC6A3 CL E G H653111049ORPHA:238455Infantile dystonia-parkinsonism13
HP:0004305HP:0004305Involuntary movements0SLC6A3 CL E G H653111049OMIM:613135Parkinsonism-Dystonia, infantile, 113
HP:0004305HP:0004305Involuntary movements0SLC6A5 CL E G H915211051ORPHA:3197Hereditary hyperekplexia81
HP:0004305HP:0004305Involuntary movements0SLC6A5 CL E G H915211051OMIM:614618Hyperekplexia 381
HP:0004305HP:0004305Involuntary movements0SLC6A8 CL E G H653511055OMIM:300352Creatine deficiency syndrome, X-linked122
HP:0004305HP:0004305Involuntary movements0SLC6A8 CL E G H653511055ORPHA:52503X-linked creatine transporter deficiency122
HP:0004305HP:0004305Involuntary movements0SLC6A9 CL E G H653611056OMIM:617301Glycine encephalopathy with normal serum glycine4
HP:0004305HP:0004305Involuntary movements0SLC7A6OS CL E G H8413825807OMIM:619191EPILEPSY, PROGRESSIVE MYOCLONIC, 12; EPM12
HP:0004305HP:0004305Involuntary movements0SLC9A1 CL E G H654811071OMIM:616291Lichtenstein-Knorr syndrome2
HP:0004305HP:0004305Involuntary movements0SLC9A6 CL E G H1047911079ORPHA:85278Christianson syndrome93
HP:0004305HP:0004305Involuntary movements0SLITRK1 CL E G H11479820297OMIM:137580Gilles de la tourette syndrome58
HP:0004305HP:0004305Involuntary movements0SMARCA2 CL E G H659511098OMIM:619293BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS146
HP:0004305HP:0004305Involuntary movements0SMARCB1 CL E G H659811103ORPHA:2495Meningioma87
HP:0004305HP:0004305Involuntary movements0SMARCE1 CL E G H660511109ORPHA:2495Meningioma47
HP:0004305HP:0004305Involuntary movements0SMC1A CL E G H824311111ORPHA:3095Atypical Rett syndromeHP:0040281 - Very frequent135
HP:0004305HP:0004305Involuntary movements0SMC1A CL E G H824311111OMIM:301044DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS; DEE85135
HP:0004305HP:0004305Involuntary movements0SMG9 CL E G H5600625763OMIM:6199952
HP:0004305HP:0004305Involuntary movements0SMN1 CL E G H660611117OMIM:253300Spinal muscular atrophy, type I22
HP:0004305HP:0004305Involuntary movements0SMN1 CL E G H660611117OMIM:253550Spinal muscular atrophy, type II22
HP:0004305HP:0004305Involuntary movements0SMN1 CL E G H660611117OMIM:253400Spinal muscular atrophy, type III22
HP:0004305HP:0004305Involuntary movements0SMN1 CL E G H660611117OMIM:271150Spinal muscular atrophy, type IV22
HP:0004305HP:0004305Involuntary movements0SMN2 CL E G H660711118OMIM:253400Spinal muscular atrophy, type III1
HP:0004305HP:0004305Involuntary movements0SMO CL E G H660811119ORPHA:2495Meningioma22
HP:0004305HP:0004305Involuntary movements0SMPD1 CL E G H660911120OMIM:257200Niemann-Pick disease, type A164
HP:0004305HP:0004305Involuntary movements0SMS CL E G H661111123ORPHA:3063X-linked intellectual disability, Snyder typeHP:0040283 - Occasional19
HP:0004305HP:0004305Involuntary movements0SNCA CL E G H662211138ORPHA:411602Hereditary late-onset Parkinson disease65
HP:0004305HP:0004305Involuntary movements0SNCA CL E G H662211138OMIM:168601Parkinson disease 1, autosomal dominant65
HP:0004305HP:0004305Involuntary movements0SNCA CL E G H662211138ORPHA:171695Parkinsonian-pyramidal syndrome65
HP:0004305HP:0004305Involuntary movements0SNCA CL E G H662211138ORPHA:2828Young-onset Parkinson disease65
HP:0004305HP:0004305Involuntary movements0SNCAIP CL E G H962711139OMIM:168600Parkinson disease, late-onset35
HP:0004305HP:0004305Involuntary movements0SNORD118 CL E G H72767632952ORPHA:542310Leukoencephalopathy with calcifications and cysts6
HP:0004305HP:0004305Involuntary movements0SNORD118 CL E G H72767632952OMIM:614561Leukoencephalopathy, brain calcifications, and cysts6
HP:0004305HP:0004305Involuntary movements0SNRPN CL E G H663811164OMIM:105830Angelman syndrome37
HP:0004305HP:0004305Involuntary movements0SNRPN CL E G H663811164OMIM:209850Autism susceptibility 137
HP:0004305HP:0004305Involuntary movements0SNRPN CL E G H663811164ORPHA:177907Prader-Willi syndrome due to translocation37
HP:0004305HP:0004305Involuntary movements0SNX10 CL E G H2988714974ORPHA:667Autosomal recessive malignant osteopetrosis2
HP:0004305HP:0004305Involuntary movements0SOD1 CL E G H664711179OMIM:105400Amyotrophic lateral sclerosis 153
HP:0004305HP:0004305Involuntary movements0SOD1 CL E G H664711179OMIM:618598SPASTIC TETRAPLEGIA AND AXIAL HYPOTONIA, PROGRESSIVE; STAHP53
HP:0004305HP:0004305Involuntary movements0SORL1 CL E G H665311185ORPHA:1020Early-onset autosomal dominant Alzheimer disease3
HP:0004305HP:0004305Involuntary movements0SOX10 CL E G H666311190ORPHA:478Kallmann syndrome61
HP:0004305HP:0004305Involuntary movements0SOX10 CL E G H666311190OMIM:609136Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease61
HP:0004305HP:0004305Involuntary movements0SOX5 CL E G H666011201ORPHA:313892Developmental and speech delay due to SOX5 deficiency11
HP:0004305HP:0004305Involuntary movements0SPART CL E G H2311118514ORPHA:101000Autosomal recessive spastic paraplegia type 2066
HP:0004305HP:0004305Involuntary movements0SPART CL E G H2311118514OMIM:275900Spastic paraplegia 20, autosomal recessive66
HP:0004305HP:0004305Involuntary movements0SPAST CL E G H668311233ORPHA:100985Autosomal dominant spastic paraplegia type 4208
HP:0004305HP:0004305Involuntary movements0SPATA5 CL E G H16637818119ORPHA:457351Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome19
HP:0004305HP:0004305Involuntary movements0SPEN CL E G H2301317575ORPHA:16061p36 deletion syndrome4
HP:0004305HP:0004305Involuntary movements0SPEN CL E G H2301317575OMIM:619312RADIO-TARTAGLIA SYNDROME; RATARS4
HP:0004305HP:0004305Involuntary movements0SPG11 CL E G H8020811226OMIM:602099Amyotrophic lateral sclerosis 5, juvenile287
HP:0004305HP:0004305Involuntary movements0SPG11 CL E G H8020811226OMIM:616668Charcot-Marie-Tooth disease, axonal, type 2X287
HP:0004305HP:0004305Involuntary movements0SPG11 CL E G H8020811226ORPHA:300605Juvenile amyotrophic lateral sclerosis287
HP:0004305HP:0004305Involuntary movements0SPG11 CL E G H8020811226OMIM:604360Spastic paraplegia 11, autosomal recessive287
HP:0004305HP:0004305Involuntary movements0SPOP CL E G H840511254OMIM:618829NABAIS SA-DE VRIES SYNDROME, TYPE 2; NSDVS216
HP:0004305HP:0004305Involuntary movements0SPR CL E G H669711257ORPHA:70594Dopa-responsive dystonia due to sepiapterin reductase deficiency28
HP:0004305HP:0004305Involuntary movements0SPR CL E G H669711257OMIM:612716Dystonia, dopa-responsive, due to sepiapterin reductase deficiency28
HP:0004305HP:0004305Involuntary movements0SPRY4 CL E G H8184815533ORPHA:478Kallmann syndrome5
HP:0004305HP:0004305Involuntary movements0SPTAN1 CL E G H670911273ORPHA:3451Infantile spasms syndrome416
HP:0004305HP:0004305Involuntary movements0SPTBN1 CL E G H671111275OMIM:619475DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0004305HP:0004305Involuntary movements0SPTBN2 CL E G H671211276ORPHA:352403Spectrin-associated autosomal recessive cerebellar ataxia126
HP:0004305HP:0004305Involuntary movements0SPTBN2 CL E G H671211276OMIM:600224Spinocerebellar ataxia 5126
HP:0004305HP:0004305Involuntary movements0SPTBN2 CL E G H671211276OMIM:615386Spinocerebellar ataxia, autosomal recessive 14126
HP:0004305HP:0004305Involuntary movements0SPTBN4 CL E G H5773114896OMIM:617519Neurodevelopmental disorder with hypotonia, neuropathy, and deafness3
HP:0004305HP:0004305Involuntary movements0SPTLC1 CL E G H1055811277ORPHA:300605Juvenile amyotrophic lateral sclerosis54
HP:0004305HP:0004305Involuntary movements0SPTLC1 CL E G H1055811277OMIM:162400Neuropathy, hereditary sensory and autonomic, type IA54
HP:0004305HP:0004305Involuntary movements0SQSTM1 CL E G H887811280ORPHA:275864Behavioral variant of frontotemporal dementia62
HP:0004305HP:0004305Involuntary movements0SQSTM1 CL E G H887811280OMIM:616437Frontotemporal dementia and/or amyotrophic lateral sclerosis 362
HP:0004305HP:0004305Involuntary movements0SQSTM1 CL E G H887811280ORPHA:275872Frontotemporal dementia with motor neuron disease62
HP:0004305HP:0004305Involuntary movements0SQSTM1 CL E G H887811280OMIM:617145Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset62
HP:0004305HP:0004305Involuntary movements0ST3GAL3 CL E G H648710866ORPHA:3451Infantile spasms syndrome41
HP:0004305HP:0004305Involuntary movements0ST3GAL5 CL E G H886910872OMIM:609056Salt and pepper developmental regression syndrome47
HP:0004305HP:0004305Involuntary movements0STAMBP CL E G H1061716950OMIM:614261Microcephaly-Capillary malformation syndrome24
HP:0004305HP:0004305Involuntary movements0STARD7 CL E G H5691018063OMIM:607876Epilepsy, familial adult myoclonic, 2
HP:0004305HP:0004305Involuntary movements0STUB1 CL E G H1027311427ORPHA:412057Autosomal recessive cerebellar ataxia due to STUB1 deficiency14
HP:0004305HP:0004305Involuntary movements0STUB1 CL E G H1027311427OMIM:618093SPINOCEREBELLAR ATAXIA 48; SCA4814
HP:0004305HP:0004305Involuntary movements0STUB1 CL E G H1027311427OMIM:615768Spinocerebellar ataxia, autosomal recessive 1614
HP:0004305HP:0004305Involuntary movements0STX16 CL E G H867511431ORPHA:94089Pseudohypoparathyroidism type 1B86
HP:0004305HP:0004305Involuntary movements0STX1A CL E G H680411433ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0004305HP:0004305Involuntary movements0STX1B CL E G H11275518539ORPHA:36387Generalized epilepsy with febrile seizures-plus9
HP:0004305HP:0004305Involuntary movements0STXBP1 CL E G H681211444OMIM:612164Epileptic encephalopathy, early infantile, 4237
HP:0004305HP:0004305Involuntary movements0SUCLA2 CL E G H880311448OMIM:612073Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)66
HP:0004305HP:0004305Involuntary movements0SUCLG1 CL E G H880211449ORPHA:17Fatal infantile lactic acidosis with methylmalonic aciduria60
HP:0004305HP:0004305Involuntary movements0SUFU CL E G H5168416466ORPHA:475Joubert syndrome124
HP:0004305HP:0004305Involuntary movements0SUFU CL E G H5168416466ORPHA:2495Meningioma124
HP:0004305HP:0004305Involuntary movements0SUOX CL E G H682111460OMIM:272300SULFOCYSTEINURIA40
HP:0004305HP:0004305Involuntary movements0SURF1 CL E G H683411474ORPHA:70474Leigh syndrome with cardiomyopathyHP:0040283 - Occasional73
HP:0004305HP:0004305Involuntary movements0SYNE1 CL E G H2334517089ORPHA:88644Autosomal recessive ataxia, Beauce type1129
HP:0004305HP:0004305Involuntary movements0SYNGAP1 CL E G H883111497ORPHA:1942Myoclonic-astatic epilepsy108
HP:0004305HP:0004305Involuntary movements0SYNGAP1 CL E G H883111497ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional108
HP:0004305HP:0004305Involuntary movements0SYNGAP1 CL E G H883111497ORPHA:544254SYNGAP1-related developmental and epileptic encephalopathy108
HP:0004305HP:0004305Involuntary movements0SYNJ1 CL E G H886711503ORPHA:391411Atypical juvenile parkinsonismHP:0040282 - Frequent9
HP:0004305HP:0004305Involuntary movements0SYNJ1 CL E G H886711503ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional9
HP:0004305HP:0004305Involuntary movements0SYNJ1 CL E G H886711503OMIM:615530Parkinson disease 20, early-onset9
HP:0004305HP:0004305Involuntary movements0SYNJ1 CL E G H886711503ORPHA:2828Young-onset Parkinson disease9
HP:0004305HP:0004305Involuntary movements0SYT1 CL E G H685711509OMIM:618218Baker-Gordon syndrome.1
HP:0004305HP:0004305Involuntary movements0SYT1 CL E G H685711509ORPHA:522077Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome1
HP:0004305HP:0004305Involuntary movements0SYT2 CL E G H12783311510OMIM:619461MYASTHENIC SYNDROME, CONGENITAL, 7B, PRESYNAPTIC, AUTOSOMAL RECESSIVE; CMS7B4
HP:0004305HP:0004305Involuntary movements0SZT2 CL E G H2333429040ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional123
HP:0004305HP:0004305Involuntary movements0TACR3 CL E G H687011528ORPHA:478Kallmann syndrome34
HP:0004305HP:0004305Involuntary movements0TAF1 CL E G H687211535OMIM:314250Dystonia 3, torsion, X-linked21
HP:0004305HP:0004305Involuntary movements0TAF1 CL E G H687211535OMIM:300966MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS3321
HP:0004305HP:0004305Involuntary movements0TAF1 CL E G H687211535ORPHA:53351X-linked dystonia-parkinsonism21
HP:0004305HP:0004305Involuntary movements0TAF1 CL E G H687211535ORPHA:480907X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome21
HP:0004305HP:0004305Involuntary movements0TANC2 CL E G H2611530212OMIM:618906INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISTIC FEATURES AND LANGUAGE DELAY, WITH OR WITHOUT SEIZURES; IDDALDS
HP:0004305HP:0004305Involuntary movements0TANGO2 CL E G H12898925439OMIM:616878Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration12
HP:0004305HP:0004305Involuntary movements0TANGO2 CL E G H12898925439ORPHA:480864Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndromeHP:0040282 - Frequent12
HP:0004305HP:0004305Involuntary movements0TAOK1 CL E G H5755129259OMIM:619575DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES; DDIB
HP:0004305HP:0004305Involuntary movements0TARDBP CL E G H2343511571OMIM:612069Amyotrophic lateral sclerosis 10 with or without frontotemporal dementia65
HP:0004305HP:0004305Involuntary movements0TARDBP CL E G H2343511571ORPHA:275872Frontotemporal dementia with motor neuron disease65
HP:0004305HP:0004305Involuntary movements0TARS1 CL E G H689711572ORPHA:33364Trichothiodystrophy
HP:0004305HP:0004305Involuntary movements0TAT CL E G H689811573ORPHA:28378Tyrosinemia type 243
HP:0004305HP:0004305Involuntary movements0TBC1D23 CL E G H5577325622OMIM:617695Pontocerebellar hypoplasia, type 11
HP:0004305HP:0004305Involuntary movements0TBC1D24 CL E G H5746529203ORPHA:79500DOORS syndrome271
HP:0004305HP:0004305Involuntary movements0TBC1D24 CL E G H5746529203OMIM:608105Epilepsy, rolandic, with paroxysmal exercise-induced dystonia and writer's cramp271
HP:0004305HP:0004305Involuntary movements0TBC1D24 CL E G H5746529203OMIM:615338Epileptic encephalopathy, early infantile, 16271
HP:0004305HP:0004305Involuntary movements0TBC1D24 CL E G H5746529203ORPHA:352582Familial infantile myoclonic epilepsy271
HP:0004305HP:0004305Involuntary movements0TBC1D24 CL E G H5746529203ORPHA:352596Progressive myoclonic epilepsy with dystonia271
HP:0004305HP:0004305Involuntary movements0TBCD CL E G H690411581ORPHA:496641Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome16
HP:0004305HP:0004305Involuntary movements0TBCD CL E G H690411581OMIM:617193ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM; PEBAT16
HP:0004305HP:0004305Involuntary movements0TBK1 CL E G H2911011584OMIM:616439Frontotemporal dementia and/or amyotrophic lateral sclerosis 420
HP:0004305HP:0004305Involuntary movements0TBK1 CL E G H2911011584ORPHA:275872Frontotemporal dementia with motor neuron disease20
HP:0004305HP:0004305Involuntary movements0TBL2 CL E G H2660811586ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0004305HP:0004305Involuntary movements0TBP CL E G H690811588OMIM:168600Parkinson disease, late-onset7
HP:0004305HP:0004305Involuntary movements0TBP CL E G H690811588OMIM:607136Spinocerebellar ataxia 177
HP:0004305HP:0004305Involuntary movements0TBP CL E G H690811588ORPHA:98759Spinocerebellar ataxia type 17HP:0040282 - Frequent7
HP:0004305HP:0004305Involuntary movements0TBR1 CL E G H1071611590OMIM:606053Intellectual developmental disorder with autism and speech delay1
HP:0004305HP:0004305Involuntary movements0TBX1 CL E G H689911592ORPHA:172722q11.2 duplication syndrome32
HP:0004305HP:0004305Involuntary movements0TCF20 CL E G H694211631OMIM:618430Developmental delay with variable intellectual impairment and behavioral abnormalities1
HP:0004305HP:0004305Involuntary movements0TCF4 CL E G H692511634OMIM:610954Pitt-Hopkins syndrome241
HP:0004305HP:0004305Involuntary movements0TCIRG1 CL E G H1031211647ORPHA:667Autosomal recessive malignant osteopetrosis82
HP:0004305HP:0004305Involuntary movements0TCTN1 CL E G H7960026113ORPHA:475Joubert syndrome45
HP:0004305HP:0004305Involuntary movements0TCTN2 CL E G H7986725774ORPHA:475Joubert syndrome76
HP:0004305HP:0004305Involuntary movements0TCTN3 CL E G H2612324519ORPHA:2754Orofaciodigital syndrome type 631
HP:0004305HP:0004305Involuntary movements0TECR CL E G H95244551OMIM:614020Mental retardation, autosomal recessive 1417
HP:0004305HP:0004305Involuntary movements0TENM4 CL E G H2601129945OMIM:616736Tremor, hereditary essential, 55
HP:0004305HP:0004305Involuntary movements0TERT CL E G H701511730ORPHA:2495Meningioma238
HP:0004305HP:0004305Involuntary movements0TFE3 CL E G H703011752OMIM:301066INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES; MRXSPF
HP:0004305HP:0004305Involuntary movements0TFG CL E G H1034211758ORPHA:90117Hereditary motor and sensory neuropathy, Okinawa type18
HP:0004305HP:0004305Involuntary movements0TFG CL E G H1034211758OMIM:604484Neuropathy, hereditary motor and sensory, Okinawa type18
HP:0004305HP:0004305Involuntary movements0TGM6 CL E G H34364116255OMIM:613908Spinocerebellar ataxia 3558
HP:0004305HP:0004305Involuntary movements0TGM6 CL E G H34364116255ORPHA:276193Spinocerebellar ataxia type 3558
HP:0004305HP:0004305Involuntary movements0TH CL E G H705411782ORPHA:101150Autosomal recessive dopa-responsive dystonia80
HP:0004305HP:0004305Involuntary movements0TH CL E G H705411782OMIM:605407Segawa syndrome, autosomal recessive80
HP:0004305HP:0004305Involuntary movements0THAP1 CL E G H5514520856OMIM:602629Dystonia 6, torsion42
HP:0004305HP:0004305Involuntary movements0THG1L CL E G H5497426053OMIM:618800SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 28; SCAR28
HP:0004305HP:0004305Involuntary movements0THOC2 CL E G H5718719073OMIM:300957Mental retardation, X-linked 12/355
HP:0004305HP:0004305Involuntary movements0THOC2 CL E G H5718719073ORPHA:457240X-linked intellectual disability-short stature-overweight syndrome5
HP:0004305HP:0004305Involuntary movements0TIMM50 CL E G H9260923656ORPHA:5052163-methylglutaconic aciduria type 91
HP:0004305HP:0004305Involuntary movements0TIMM50 CL E G H9260923656OMIM:6176983-methylglutaconic aciduria, type IX1
HP:0004305HP:0004305Involuntary movements0TIMM8A CL E G H167811817OMIM:304700Mohr-Tranebjaerg syndrome15
HP:0004305HP:0004305Involuntary movements0TIMM8A CL E G H167811817ORPHA:52368Mohr-Tranebjaerg syndrome15
HP:0004305HP:0004305Involuntary movements0TIMMDC1 CL E G H513001321OMIM:618251MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 31; MC1DN311
HP:0004305HP:0004305Involuntary movements0TK2 CL E G H708411831ORPHA:254886Autosomal recessive progressive external ophthalmoplegia103
HP:0004305HP:0004305Involuntary movements0TKT CL E G H708611834OMIM:617044Short stature, developmental delay, and congenital heart defects4
HP:0004305HP:0004305Involuntary movements0TKT CL E G H708611834ORPHA:488618Transketolase deficiency4
HP:0004305HP:0004305Involuntary movements0TLR7 CL E G H5128415631OMIM:301080
HP:0004305HP:0004305Involuntary movements0TMCO1 CL E G H5449918188OMIM:213980Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome6
HP:0004305HP:0004305Involuntary movements0TMEM106B CL E G H5466422407ORPHA:275864Behavioral variant of frontotemporal dementia
HP:0004305HP:0004305Involuntary movements0TMEM106B CL E G H5466422407OMIM:617964Leukodystrophy, hypomyelinating, 16
HP:0004305HP:0004305Involuntary movements0TMEM127 CL E G H5565426038ORPHA:29072Hereditary pheochromocytoma-paraganglioma131
HP:0004305HP:0004305Involuntary movements0TMEM216 CL E G H5125925018ORPHA:2754Orofaciodigital syndrome type 645
HP:0004305HP:0004305Involuntary movements0TMEM218 CL E G H21985427344ORPHA:475Joubert syndrome
HP:0004305HP:0004305Involuntary movements0TMEM222 CL E G H8406525363OMIM:619470NEURODEVELOPMENTAL DISORDER WITH MOTOR AND SPEECH DELAY AND BEHAVIORAL ABNORMALITIES; NEDMOSBA
HP:0004305HP:0004305Involuntary movements0TMEM231 CL E G H7958337234ORPHA:2752Orofaciodigital syndrome type 333
HP:0004305HP:0004305Involuntary movements0TMEM237 CL E G H6506214432ORPHA:475Joubert syndrome82
HP:0004305HP:0004305Involuntary movements0TMEM237 CL E G H6506214432ORPHA:220497Joubert syndrome with renal defect82
HP:0004305HP:0004305Involuntary movements0TMEM240 CL E G H33945325186OMIM:607454Spinocerebellar ataxia 219
HP:0004305HP:0004305Involuntary movements0TMEM240 CL E G H33945325186ORPHA:98773Spinocerebellar ataxia type 219
HP:0004305HP:0004305Involuntary movements0TMEM270 CL E G H13588623018ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0004305HP:0004305Involuntary movements0TMEM63A CL E G H972529118OMIM:618688LEUKODYSTROPHY, HYPOMYELINATING, 19, TRANSIENT INFANTILE; HLD19
HP:0004305HP:0004305Involuntary movements0TMEM67 CL E G H9114728396ORPHA:475Joubert syndrome166
HP:0004305HP:0004305Involuntary movements0TMEM67 CL E G H9114728396OMIM:610688Joubert syndrome 6166
HP:0004305HP:0004305Involuntary movements0TMEM67 CL E G H9114728396ORPHA:1454Joubert syndrome with hepatic defect166
HP:0004305HP:0004305Involuntary movements0TMEM70 CL E G H5496826050OMIM:614052Mitochondrial complex V (atp synthase) deficiency, nuclear type 263
HP:0004305HP:0004305Involuntary movements0TNFAIP3 CL E G H712811896OMIM:616744AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE; AISBL26
HP:0004305HP:0004305Involuntary movements0TNFRSF1B CL E G H713311917ORPHA:3162Sézary syndrome
HP:0004305HP:0004305Involuntary movements0TNFSF11 CL E G H860011926ORPHA:667Autosomal recessive malignant osteopetrosis44
HP:0004305HP:0004305Involuntary movements0TNNT1 CL E G H713811948ORPHA:98902Amish nemaline myopathy37
HP:0004305HP:0004305Involuntary movements0TNNT1 CL E G H713811948OMIM:605355NEMALINE MYOPATHY 5; NEM537
HP:0004305HP:0004305Involuntary movements0TNPO2 CL E G H3000019998OMIM:619556INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA, IMPAIRED SPEECH, AND DYSMORPHIC FACIES; IDDHISD
HP:0004305HP:0004305Involuntary movements0TNR CL E G H714311953OMIM:619653NEURODEVELOPMENTAL DISORDER, NONPROGRESSIVE, WITH SPASTICITY AND TRANSIENT OPISTHOTONUS; NEDSTO7
HP:0004305HP:0004305Involuntary movements0TNRC6A CL E G H2732711969OMIM:618074EPILEPSY, FAMILIAL ADULT MYOCLONIC, 6; FAME6
HP:0004305HP:0004305Involuntary movements0TOE1 CL E G H11403415954ORPHA:284339Pontocerebellar hypoplasia type 7HP:0040283 - Occasional6
HP:0004305HP:0004305Involuntary movements0TOE1 CL E G H11403415954OMIM:614969Pontocerebellar hypoplasia, type 76
HP:0004305HP:0004305Involuntary movements0TOGARAM1 CL E G H2311619959ORPHA:475Joubert syndrome
HP:0004305HP:0004305Involuntary movements0TOMM40 CL E G H1045218001ORPHA:1020Early-onset autosomal dominant Alzheimer disease
HP:0004305HP:0004305Involuntary movements0TOPORS CL E G H1021021653ORPHA:2754Orofaciodigital syndrome type 661
HP:0004305HP:0004305Involuntary movements0TOR1A CL E G H18613098OMIM:618947ARTHROGRYPOSIS MULTIPLEX CONGENITA 5; AMC547
HP:0004305HP:0004305Involuntary movements0TOR1A CL E G H18613098OMIM:128100Dystonia 1, torsion, autosomal dominant47
HP:0004305HP:0004305Involuntary movements0TOR1A CL E G H18613098ORPHA:36899Myoclonus-dystonia syndrome47
HP:0004305HP:0004305Involuntary movements0TPI1 CL E G H716712009OMIM:615512Triosephosphate isomerase deficiency28
HP:0004305HP:0004305Involuntary movements0TPK1 CL E G H2701017358OMIM:614458Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type)21
HP:0004305HP:0004305Involuntary movements0TPP1 CL E G H12002073OMIM:204500Ceroid lipofuscinosis, neuronal, 2203
HP:0004305HP:0004305Involuntary movements0TPP1 CL E G H12002073ORPHA:284324Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia203
HP:0004305HP:0004305Involuntary movements0TPP1 CL E G H12002073OMIM:609270Spinocerebellar ataxia, autosomal recessive 7203
HP:0004305HP:0004305Involuntary movements0TRAF7 CL E G H8423120456ORPHA:2495Meningioma
HP:0004305HP:0004305Involuntary movements0TRAK1 CL E G H2290629947OMIM:618201Epileptic encephalopathy, early infantile, 68
HP:0004305HP:0004305Involuntary movements0TRAK1 CL E G H2290629947ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional
HP:0004305HP:0004305Involuntary movements0TRAPPC11 CL E G H6068425751ORPHA:369847Intellectual disability-hyperkinetic movement-truncal ataxia syndrome27
HP:0004305HP:0004305Involuntary movements0TRAPPC11 CL E G H6068425751OMIM:615356Muscular dystrophy, limb-girdle, autosomal recessive 1827
HP:0004305HP:0004305Involuntary movements0TRAPPC11 CL E G H6068425751ORPHA:369840TRAPPC11-related limb-girdle muscular dystrophy R1827
HP:0004305HP:0004305Involuntary movements0TRAPPC12 CL E G H5111224284ORPHA:500144Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome2
HP:0004305HP:0004305Involuntary movements0TRAPPC12 CL E G H5111224284OMIM:617669Encephalopathy, progressive, early-onset, with brain atrophy and spasticity2
HP:0004305HP:0004305Involuntary movements0TRAPPC6B CL E G H12255323066OMIM:617862Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy
HP:0004305HP:0004305Involuntary movements0TRAPPC9 CL E G H8369630832OMIM:613192Mental retardation, autosomal recessive 13158
HP:0004305HP:0004305Involuntary movements0TREM2 CL E G H5420917761ORPHA:275864Behavioral variant of frontotemporal dementia31
HP:0004305HP:0004305Involuntary movements0TREM2 CL E G H5420917761ORPHA:1020Early-onset autosomal dominant Alzheimer disease31
HP:0004305HP:0004305Involuntary movements0TREM2 CL E G H5420917761ORPHA:2770Nasu-Hakola disease31
HP:0004305HP:0004305Involuntary movements0TREM2 CL E G H5420917761OMIM:618193POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 2; PLOSL231
HP:0004305HP:0004305Involuntary movements0TREX1 CL E G H1127712269ORPHA:51Aicardi-Goutières syndrome56
HP:0004305HP:0004305Involuntary movements0TRIM8 CL E G H8160315579ORPHA:1934Early infantile epileptic encephalopathy1
HP:0004305HP:0004305Involuntary movements0TRIM8 CL E G H8160315579OMIM:619428FOCAL SEGMENTAL GLOMERULOSCLEROSIS AND NEURODEVELOPMENTAL SYNDROME; FSGSNEDS1
HP:0004305HP:0004305Involuntary movements0TRIO CL E G H720412303OMIM:618825INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 63, WITH MACROCEPHALY; MRD638
HP:0004305HP:0004305Involuntary movements0TRIO CL E G H720412303OMIM:617061Mental retardation, autosomal dominant 448
HP:0004305HP:0004305Involuntary movements0TRIO CL E G H720412303ORPHA:476126Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome8
HP:0004305HP:0004305Involuntary movements0TRMT5 CL E G H5757023141OMIM:616539Combined oxidative phosphorylation deficiency 264
HP:0004305HP:0004305Involuntary movements0TRNF CL E G H45587481ORPHA:550MELAS
HP:0004305HP:0004305Involuntary movements0TRNF CL E G H45587481OMIM:545000Myoclonic epilepsy associated with ragged-red fibers
HP:0004305HP:0004305Involuntary movements0TRNH CL E G H45647487ORPHA:550MELAS
HP:0004305HP:0004305Involuntary movements0TRNI CL E G H45657488OMIM:545000Myoclonic epilepsy associated with ragged-red fibers
HP:0004305HP:0004305Involuntary movements0TRNK CL E G H45667489ORPHA:255210Mitochondrial DNA-associated Leigh syndrome
HP:0004305HP:0004305Involuntary movements0TRNK CL E G H45667489OMIM:545000Myoclonic epilepsy associated with ragged-red fibers
HP:0004305HP:0004305Involuntary movements0TRNL1 CL E G H45677490ORPHA:550MELAS
HP:0004305HP:0004305Involuntary movements0TRNL1 CL E G H45677490ORPHA:255210Mitochondrial DNA-associated Leigh syndrome
HP:0004305HP:0004305Involuntary movements0TRNL1 CL E G H45677490OMIM:545000Myoclonic epilepsy associated with ragged-red fibers
HP:0004305HP:0004305Involuntary movements0TRNP CL E G H45717494OMIM:545000Myoclonic epilepsy associated with ragged-red fibers
HP:0004305HP:0004305Involuntary movements0TRNQ CL E G H45727495ORPHA:550MELAS
HP:0004305HP:0004305Involuntary movements0TRNS1 CL E G H45747497ORPHA:550MELAS
HP:0004305HP:0004305Involuntary movements0TRNS2 CL E G H45757498ORPHA:550MELAS
HP:0004305HP:0004305Involuntary movements0TRNT CL E G H45767499OMIM:168600Parkinson disease, late-onset
HP:0004305HP:0004305Involuntary movements0TRNV CL E G H45777500ORPHA:255210Mitochondrial DNA-associated Leigh syndrome
HP:0004305HP:0004305Involuntary movements0TRNW CL E G H45787501ORPHA:550MELAS
HP:0004305HP:0004305Involuntary movements0TRNW CL E G H45787501ORPHA:255210Mitochondrial DNA-associated Leigh syndrome
HP:0004305HP:0004305Involuntary movements0TSC1 CL E G H724812362ORPHA:805Tuberous sclerosis complex1090
HP:0004305HP:0004305Involuntary movements0TSC2 CL E G H724912363ORPHA:805Tuberous sclerosis complex2738
HP:0004305HP:0004305Involuntary movements0TSEN15 CL E G H11646116791ORPHA:2524Pontocerebellar hypoplasia type 23
HP:0004305HP:0004305Involuntary movements0TSEN2 CL E G H8074628422ORPHA:2524Pontocerebellar hypoplasia type 284
HP:0004305HP:0004305Involuntary movements0TSEN2 CL E G H8074628422OMIM:612389Pontocerebellar hypoplasia, type 2B84
HP:0004305HP:0004305Involuntary movements0TSEN34 CL E G H7904215506ORPHA:2524Pontocerebellar hypoplasia type 257
HP:0004305HP:0004305Involuntary movements0TSEN34 CL E G H7904215506OMIM:612390PONTOCEREBELLAR HYPOPLASIA, TYPE 2C; PCH2C57
HP:0004305HP:0004305Involuntary movements0TSEN54 CL E G H28398927561ORPHA:2524Pontocerebellar hypoplasia type 2102
HP:0004305HP:0004305Involuntary movements0TSEN54 CL E G H28398927561ORPHA:166063Pontocerebellar hypoplasia type 4102
HP:0004305HP:0004305Involuntary movements0TSEN54 CL E G H28398927561OMIM:277470Pontocerebellar hypoplasia, type 2A102
HP:0004305HP:0004305Involuntary movements0TSEN54 CL E G H28398927561OMIM:225753Pontocerebellar hypoplasia, type 4102
HP:0004305HP:0004305Involuntary movements0TSFM CL E G H1010212367OMIM:610505Combined oxidative phosphorylation deficiency 343
HP:0004305HP:0004305Involuntary movements0TSHR CL E G H725312373ORPHA:99819Familial gestational hyperthyroidism97
HP:0004305HP:0004305Involuntary movements0TSHR CL E G H725312373ORPHA:424Familial hyperthyroidism due to mutations in TSH receptor97
HP:0004305HP:0004305Involuntary movements0TSPOAP1 CL E G H925616831ORPHA:101150Autosomal recessive dopa-responsive dystonia2
HP:0004305HP:0004305Involuntary movements0TSPYL1 CL E G H725912382OMIM:608800Sudden infant death with dysgenesis of the testes syndrome1
HP:0004305HP:0004305Involuntary movements0TSPYL1 CL E G H725912382ORPHA:168593Sudden infant death-dysgenesis of the testes syndrome1
HP:0004305HP:0004305Involuntary movements0TTC19 CL E G H5490226006OMIM:615157Mitochondrial complex III deficiency, nuclear type 288
HP:0004305HP:0004305Involuntary movements0TTI2 CL E G H8018526262OMIM:615541Mental retardation, autosomal recessive 3911
HP:0004305HP:0004305Involuntary movements0TTI2 CL E G H8018526262ORPHA:391307Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome11
HP:0004305HP:0004305Involuntary movements0TTPA CL E G H727412404ORPHA:96Ataxia with vitamin E deficiency62
HP:0004305HP:0004305Involuntary movements0TTR CL E G H727612405OMIM:105210Amyloidosis, hereditary, transthyretin-related107
HP:0004305HP:0004305Involuntary movements0TUBB3 CL E G H1038120772ORPHA:300570Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation64
HP:0004305HP:0004305Involuntary movements0TUBB4A CL E G H1038220774OMIM:612438Leukodystrophy, hypomyelinating, 666
HP:0004305HP:0004305Involuntary movements0TUBB4A CL E G H1038220774ORPHA:98805Primary dystonia, DYT4 typeHP:0040283 - Occasional66
HP:0004305HP:0004305Involuntary movements0TWNK CL E G H566521160ORPHA:254892Autosomal dominant progressive external ophthalmoplegia113
HP:0004305HP:0004305Involuntary movements0TWNK CL E G H566521160OMIM:271245Mitochondrial DNA depletion syndrome 7 (hepatocerebral type)113
HP:0004305HP:0004305Involuntary movements0TWNK CL E G H566521160OMIM:607459Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis113
HP:0004305HP:0004305Involuntary movements0TWNK CL E G H566521160ORPHA:70595Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome113
HP:0004305HP:0004305Involuntary movements0TXN2 CL E G H2582817772ORPHA:478029Combined oxidative phosphorylation defect type 291
HP:0004305HP:0004305Involuntary movements0TYROBP CL E G H730512449ORPHA:2770Nasu-Hakola disease22
HP:0004305HP:0004305Involuntary movements0TYROBP CL E G H730512449OMIM:221770Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy22
HP:0004305HP:0004305Involuntary movements0UBA1 CL E G H731712469ORPHA:1145Infantile-onset X-linked spinal muscular atrophy35
HP:0004305HP:0004305Involuntary movements0UBA1 CL E G H731712469OMIM:301830Spinal muscular atrophy, X-linked 235
HP:0004305HP:0004305Involuntary movements0UBA5 CL E G H7987623230OMIM:617132Epileptic encephalopathy, early infantile, 4413
HP:0004305HP:0004305Involuntary movements0UBA5 CL E G H7987623230ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional13
HP:0004305HP:0004305Involuntary movements0UBAP1 CL E G H5127112461ORPHA:100993Autosomal dominant spastic paraplegia type 12
HP:0004305HP:0004305Involuntary movements0UBE3A CL E G H733712496OMIM:105830Angelman syndrome278
HP:0004305HP:0004305Involuntary movements0UBE3A CL E G H733712496ORPHA:411511Angelman syndrome due to a point mutation278
HP:0004305HP:0004305Involuntary movements0UBE3A CL E G H733712496ORPHA:98794Angelman syndrome due to maternal 15q11q13 deletion278
HP:0004305HP:0004305Involuntary movements0UBE3A CL E G H733712496ORPHA:98795Angelman syndrome due to paternal uniparental disomy of chromosome 15278
HP:0004305HP:0004305Involuntary movements0UBE4B CL E G H1027712500ORPHA:16061p36 deletion syndrome
HP:0004305HP:0004305Involuntary movements0UBQLN2 CL E G H2997812509OMIM:300857Amyotrophic lateral sclerosis 15 with or without frontotemporal dementia20
HP:0004305HP:0004305Involuntary movements0UBTF CL E G H734312511ORPHA:500180Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder1
HP:0004305HP:0004305Involuntary movements0UBTF CL E G H734312511OMIM:617672Neurodegeneration, childhood-onset, with brain atrophy1
HP:0004305HP:0004305Involuntary movements0UCHL1 CL E G H734512513OMIM:615491Spastic paraplegia 79, autosomal recessive21
HP:0004305HP:0004305Involuntary movements0UCHL1 CL E G H734512513ORPHA:2828Young-onset Parkinson disease21
HP:0004305HP:0004305Involuntary movements0UFC1 CL E G H5150626941OMIM:618076Neurodevelopmental disorder with spasticity and poor growth
HP:0004305HP:0004305Involuntary movements0UGDH CL E G H735812525OMIM:618792DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 84; DEE84
HP:0004305HP:0004305Involuntary movements0UGT1A1 CL E G H5465812530ORPHA:79234Crigler-Najjar syndrome type 173
HP:0004305HP:0004305Involuntary movements0UQCRC1 CL E G H738412585OMIM:619279PARKINSONISM WITH POLYNEUROPATHY; PKNPY
HP:0004305HP:0004305Involuntary movements0UQCRQ CL E G H2708929594OMIM:615159Mitochondrial complex III deficiency, nuclear type 434
HP:0004305HP:0004305Involuntary movements0UROC1 CL E G H13166926444OMIM:276880Urocanase deficiency8
HP:0004305HP:0004305Involuntary movements0UROC1 CL E G H13166926444ORPHA:210128Urocanic aciduria8
HP:0004305HP:0004305Involuntary movements0USP8 CL E G H910112631ORPHA:401795Autosomal recessive spastic paraplegia type 597
HP:0004305HP:0004305Involuntary movements0VAMP1 CL E G H684312642ORPHA:251282Autosomal dominant spastic ataxia type 12
HP:0004305HP:0004305Involuntary movements0VAMP2 CL E G H684412643OMIM:618760NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND AUTISTIC FEATURES WITH OR WITHOUT HYPERKINETIC MOVEMENTS; NEDHAHM
HP:0004305HP:0004305Involuntary movements0VAPB CL E G H921712649OMIM:608627Amyotrophic lateral sclerosis 8116
HP:0004305HP:0004305Involuntary movements0VAPB CL E G H921712649OMIM:182980Spinal muscular atrophy, proximal, adult, autosomal dominantspinal muscular atrophy, late-onset, finkel type, included116
HP:0004305HP:0004305Involuntary movements0VARS1 CL E G H740712651OMIM:617802Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy
HP:0004305HP:0004305Involuntary movements0VCP CL E G H741512666ORPHA:329478Adult-onset distal myopathy due to VCP mutation63
HP:0004305HP:0004305Involuntary movements0VCP CL E G H741512666OMIM:613954Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia63
HP:0004305HP:0004305Involuntary movements0VCP CL E G H741512666ORPHA:275864Behavioral variant of frontotemporal dementia63
HP:0004305HP:0004305Involuntary movements0VCP CL E G H741512666ORPHA:275872Frontotemporal dementia with motor neuron disease63
HP:0004305HP:0004305Involuntary movements0VCP CL E G H741512666ORPHA:52430Inclusion body myopathy with Paget disease of bone and frontotemporal dementia63
HP:0004305HP:0004305Involuntary movements0VCP CL E G H741512666ORPHA:329475Spastic paraplegia-Paget disease of bone syndrome63
HP:0004305HP:0004305Involuntary movements0VHL CL E G H742812687ORPHA:29072Hereditary pheochromocytoma-paraganglioma490
HP:0004305HP:0004305Involuntary movements0VHL CL E G H742812687ORPHA:276621Sporadic pheochromocytoma/secreting paraganglioma490
HP:0004305HP:0004305Involuntary movements0VLDLR CL E G H743612698OMIM:224050Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1111
HP:0004305HP:0004305Involuntary movements0VPS13A CL E G H232301908OMIM:200150CHOREOACANTHOCYTOSIS130
HP:0004305HP:0004305Involuntary movements0VPS13A CL E G H232301908ORPHA:2388ChoreoacanthocytosisHP:0040281 - Very frequent130
HP:0004305HP:0004305Involuntary movements0VPS13C CL E G H5483223594OMIM:616840Parkinson disease 23, autosomal recessive early-onset8
HP:0004305HP:0004305Involuntary movements0VPS13C CL E G H5483223594ORPHA:2828Young-onset Parkinson disease8
HP:0004305HP:0004305Involuntary movements0VPS13D CL E G H5518723595ORPHA:95434Autosomal recessive cerebellar ataxia-movement disorder syndrome
HP:0004305HP:0004305Involuntary movements0VPS13D CL E G H5518723595OMIM:607317Spinocerebellar ataxia, autosomal recessive 4
HP:0004305HP:0004305Involuntary movements0VPS35 CL E G H5573713487ORPHA:411602Hereditary late-onset Parkinson disease37
HP:0004305HP:0004305Involuntary movements0VPS35 CL E G H5573713487OMIM:614203Parkinson disease 1737
HP:0004305HP:0004305Involuntary movements0VPS37A CL E G H13749224928ORPHA:319199Autosomal recessive spastic paraplegia type 537
HP:0004305HP:0004305Involuntary movements0VPS37A CL E G H13749224928OMIM:614898SPASTIC PARAPLEGIA 53, AUTOSOMAL RECESSIVE; SPG537
HP:0004305HP:0004305Involuntary movements0VPS37D CL E G H15538218287ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0004305HP:0004305Involuntary movements0VPS41 CL E G H2707212713ORPHA:95434Autosomal recessive cerebellar ataxia-movement disorder syndrome
HP:0004305HP:0004305Involuntary movements0VPS4A CL E G H2718313488OMIM:619273CIMDAG SYNDROME; CIMDAG1
HP:0004305HP:0004305Involuntary movements0VPS53 CL E G H5527525608OMIM:615851Pontocerebellar hypoplasia, type 2E26
HP:0004305HP:0004305Involuntary movements0VRK1 CL E G H744312718ORPHA:2254Pontocerebellar hypoplasia type 132
HP:0004305HP:0004305Involuntary movements0VRK1 CL E G H744312718OMIM:607596Pontocerebellar hypoplasia type 1A32
HP:0004305HP:0004305Involuntary movements0VWA1 CL E G H6485630910OMIM:619216NEUROPATHY, HEREDITARY MOTOR, WITH MYOPATHIC FEATURES; HMNMYO
HP:0004305HP:0004305Involuntary movements0VWA3B CL E G H20040328385OMIM:616948Spinocerebellar ataxia, autosomal recessive 221
HP:0004305HP:0004305Involuntary movements0WARS2 CL E G H1035212730OMIM:617710Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures2
HP:0004305HP:0004305Involuntary movements0WARS2 CL E G H1035212730OMIM:619738PARKINSONISM-DYSTONIA 3, CHILDHOOD-ONSET; PKDYS32
HP:0004305HP:0004305Involuntary movements0WARS2 CL E G H1035212730ORPHA:572798WARS2-related combined oxidative phosphorylation defect2
HP:0004305HP:0004305Involuntary movements0WASHC5 CL E G H989728984ORPHA:100989Autosomal dominant spastic paraplegia type 883
HP:0004305HP:0004305Involuntary movements0WDR11 CL E G H5571713831ORPHA:478Kallmann syndrome10
HP:0004305HP:0004305Involuntary movements0WDR26 CL E G H8023221208ORPHA:513456Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome8
HP:0004305HP:0004305Involuntary movements0WDR4 CL E G H1078512756OMIM:618347Galloway-Mowat syndrome 6
HP:0004305HP:0004305Involuntary movements0WDR45 CL E G H1115228912ORPHA:329284Beta-propeller protein-associated neurodegeneration51
HP:0004305HP:0004305Involuntary movements0WDR45 CL E G H1115228912ORPHA:3451Infantile spasms syndrome51
HP:0004305HP:0004305Involuntary movements0WDR45 CL E G H1115228912OMIM:300894Neurodegeneration with brain iron accumulation 551
HP:0004305HP:0004305Involuntary movements0WDR81 CL E G H12499726600OMIM:610185Cerebellar ataxia, mental retardation, and dysequilibrium syndrome227
HP:0004305HP:0004305Involuntary movements0WFS1 CL E G H746612762OMIM:222300Wolfram syndrome 1389
HP:0004305HP:0004305Involuntary movements0WWOX CL E G H5174112799ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional149
HP:0004305HP:0004305Involuntary movements0XK CL E G H750412811OMIM:300842Mcleod syndrome8
HP:0004305HP:0004305Involuntary movements0XPA CL E G H750712814OMIM:278700Xeroderma pigmentosum, complementation group A34
HP:0004305HP:0004305Involuntary movements0XPNPEP3 CL E G H6392928052OMIM:613159Nephronophthisis-Like nephropathy 1109
HP:0004305HP:0004305Involuntary movements0XPR1 CL E G H921312827OMIM:616413Basal ganglia calcification, idiopathic, 6.4
HP:0004305HP:0004305Involuntary movements0YEATS2 CL E G H5568925489ORPHA:86814Benign adult familial myoclonic epilepsy1
HP:0004305HP:0004305Involuntary movements0YEATS2 CL E G H5568925489OMIM:615127Epilepsy, familial adult myoclonic, 41
HP:0004305HP:0004305Involuntary movements0YRDC CL E G H7969328905OMIM:619609GALLOWAY-MOWAT SYNDROME 10; GAMOS10
HP:0004305HP:0004305Involuntary movements0YWHAG CL E G H753212852OMIM:617665Epileptic encephalopathy, early infantile, 56
HP:0004305HP:0004305Involuntary movements0YWHAG CL E G H753212852ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional
HP:0004305HP:0004305Involuntary movements0YY1 CL E G H752812856OMIM:617557Gabriele-De vries syndrome7
HP:0004305HP:0004305Involuntary movements0YY1 CL E G H752812856ORPHA:506358Gabriele-de Vries syndrome7
HP:0004305HP:0004305Involuntary movements0YY1 CL E G H752812856ORPHA:97279Insulinoma7
HP:0004305HP:0004305Involuntary movements0ZBTB18 CL E G H1047213030OMIM:612337Mental retardation, autosomal dominant 2216
HP:0004305HP:0004305Involuntary movements0ZBTB20 CL E G H2613713503OMIM:259050Primrose syndrome17
HP:0004305HP:0004305Involuntary movements0ZEB2 CL E G H983914881ORPHA:261552Mowat-Wilson syndrome due to a ZEB2 point mutation362
HP:0004305HP:0004305Involuntary movements0ZEB2 CL E G H983914881ORPHA:261537Mowat-Wilson syndrome due to monosomy 2q22362
HP:0004305HP:0004305Involuntary movements0ZFR CL E G H5166317277ORPHA:401840Autosomal recessive spastic paraplegia type 711
HP:0004305HP:0004305Involuntary movements0ZFYVE26 CL E G H2350320761ORPHA:100996Autosomal recessive spastic paraplegia type 15189
HP:0004305HP:0004305Involuntary movements0ZFYVE26 CL E G H2350320761OMIM:270700Spastic paraplegia 15, autosomal recessive189
HP:0004305HP:0004305Involuntary movements0ZFYVE27 CL E G H11881326559OMIM:610244Spastic paraplegia 33, autosomal dominant52
HP:0004305HP:0004305Involuntary movements0ZMYM2 CL E G H775012989OMIM:619522NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC
HP:0004305HP:0004305Involuntary movements0ZNF142 CL E G H770112927OMIM:618425Neurodevelopmental disorder with impaired speech and hyperkinetic movements
HP:0004305HP:0004305Involuntary movements0ZNF526 CL E G H11611529415OMIM:61987724
HP:0004305HP:0004305Involuntary movements0ZNHIT3 CL E G H932612309OMIM:260565Peho syndrome1
HP:0004305HP:0004305Involuntary movements0ZSWIM6 CL E G H5768829316OMIM:617865Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features5
HP:0004305HP:0002072Chorea1AARS1 CL E G H1620OMIM:616339Epileptic encephalopathy, early infantile, 29.
HP:0004305HP:0001336Myoclonus1AARS1 CL E G H1620ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional
HP:0004305HP:0001337Tremor1AARS1 CL E G H1620ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional
HP:0004305HP:0001337Tremor1AARS1 CL E G H1620OMIM:619691TRICHOTHIODYSTROPHY 8, NONPHOTOSENSITIVE; TTD8
HP:0004305HP:0002169Clonus1AARS1 CL E G H1620OMIM:619691TRICHOTHIODYSTROPHY 8, NONPHOTOSENSITIVE; TTD8
HP:0004305HP:0001337Tremor1AARS2 CL E G H5750521022OMIM:615889Leukoencephalopathy, progressive, with ovarian failure.143
HP:0004305HP:0001337Tremor1AASS CL E G H1015717366ORPHA:2203HyperlysinemiaHP:0040283 - Occasional15
HP:0004305HP:0001337Tremor1AASS CL E G H1015717366ORPHA:3124SaccharopinuriaHP:0040283 - Occasional15
HP:0004305HP:0001336Myoclonus1ABCA7 CL E G H1034737ORPHA:1020Early-onset autosomal dominant Alzheimer diseaseHP:0040281 - Very frequent3
HP:0004305HP:0001337Tremor1ABCB11 CL E G H864742ORPHA:69665Intrahepatic cholestasis of pregnancyHP:0040284 - Very rare146
HP:0004305HP:0001337Tremor1ABCB4 CL E G H524445ORPHA:69665Intrahepatic cholestasis of pregnancyHP:0040284 - Very rare111
HP:0004305HP:0001337Tremor1ABCB6 CL E G H1005847OMIM:609153Pseudohyperkalemia, familial, 2, due to red cell leak20
HP:0004305HP:0001337Tremor1ABCB7 CL E G H2248OMIM:301310Anemia, sideroblastic, and spinocerebellar ataxia35
HP:0004305HP:0002169Clonus1ABCB7 CL E G H2248OMIM:301310Anemia, sideroblastic, and spinocerebellar ataxia.35
HP:0004305HP:0002305Athetosis1ABCC8 CL E G H683359OMIM:618857DIABETES MELLITUS, PERMANENT NEONATAL, 3; PNDM3245
HP:0004305HP:0001336Myoclonus1ABCD1 CL E G H21561ORPHA:139396X-linked cerebral adrenoleukodystrophy135
HP:0004305HP:0002169Clonus1ABCD1 CL E G H21561ORPHA:139396X-linked cerebral adrenoleukodystrophy135
HP:0004305HP:0001337Tremor1ABHD12 CL E G H2609015868OMIM:612674Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract50
HP:0004305HP:0002072Chorea1ABHD16A CL E G H792013921OMIM:619735SPASTIC PARAPLEGIA 86, AUTOSOMAL RECESSIVE; SPG86
HP:0004305HP:0002305Athetosis1ABHD16A CL E G H792013921OMIM:619735SPASTIC PARAPLEGIA 86, AUTOSOMAL RECESSIVE; SPG86
HP:0004305HP:0002072Chorea1ACAT2 CL E G H3994OMIM:614055Acetyl-Coa acetyltransferase-2 deficiency.
HP:0004305HP:0001337Tremor1ACBD5 CL E G H9145223338OMIM:618863RETINAL DYSTROPHY WITH LEUKODYSTROPHY; RDLKD1
HP:0004305HP:0002305Athetosis1ACO2 CL E G H50118OMIM:614559INFANTILE CEREBELLAR-RETINAL DEGENERATION; ICRD60
HP:0004305HP:0002072Chorea1ACP5 CL E G H54124ORPHA:1855SpondyloenchondrodysplasiaHP:0040283 - Occasional16
HP:0004305HP:0001336Myoclonus1ACTL6B CL E G H51412160ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional2
HP:0004305HP:0001337Tremor1ACTL6B CL E G H51412160ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional2
HP:0004305HP:0001337Tremor1ADA2 CL E G H518161839OMIM:182410Sneddon syndrome.22
HP:0004305HP:0001337Tremor1ADA2 CL E G H518161839ORPHA:820Sneddon syndromeHP:0040283 - Occasional22
HP:0004305HP:0002072Chorea1ADA2 CL E G H518161839ORPHA:820Sneddon syndromeHP:0040283 - Occasional22
HP:0004305HP:0001337Tremor1ADAMTS13 CL E G H110931366OMIM:274150Thrombotic thrombocytopenic purpura, hereditary.129
HP:0004305HP:0001337Tremor1ADAR CL E G H103225ORPHA:51Aicardi-Goutières syndromeHP:0040283 - Occasional116
HP:0004305HP:0001337Tremor1ADAR CL E G H103225OMIM:615010Aicardi-Goutieres syndrome 6.116
HP:0004305HP:0001336Myoclonus1ADAR CL E G H103225ORPHA:225154Familial infantile bilateral striatal necrosisHP:0040283 - Occasional116
HP:0004305HP:0002072Chorea1ADAR CL E G H103225ORPHA:225154Familial infantile bilateral striatal necrosis116
HP:0004305HP:0002305Athetosis1ADAR CL E G H103225ORPHA:225154Familial infantile bilateral striatal necrosis116
HP:0004305HP:0001336Myoclonus1ADCY5 CL E G H111236OMIM:619647DYSKINESIA WITH OROFACIAL INVOLVEMENT, AUTOSOMAL RECESSIVE; DSKOR25
HP:0004305HP:0001337Tremor1ADCY5 CL E G H111236OMIM:619647DYSKINESIA WITH OROFACIAL INVOLVEMENT, AUTOSOMAL RECESSIVE; DSKOR25
HP:0004305HP:0001336Myoclonus1ADCY5 CL E G H111236OMIM:606703Dyskinesia, familial, with facial myokymia25
HP:0004305HP:0001337Tremor1ADCY5 CL E G H111236OMIM:606703Dyskinesia, familial, with facial myokymia25
HP:0004305HP:0002072Chorea1ADCY5 CL E G H111236OMIM:606703Dyskinesia, familial, with facial myokymia.25
HP:0004305HP:0002305Athetosis1ADCY5 CL E G H111236OMIM:606703Dyskinesia, familial, with facial myokymia25
HP:0004305HP:0007166Paroxysmal dyskinesia1ADCY5 CL E G H111236OMIM:606703Dyskinesia, familial, with facial myokymia25
HP:0004305HP:0001336Myoclonus1ADCY5 CL E G H111236ORPHA:324588Familial dyskinesia and facial myokymiaHP:0040282 - Frequent25
HP:0004305HP:0001337Tremor1ADCY5 CL E G H111236ORPHA:324588Familial dyskinesia and facial myokymia25
HP:0004305HP:0002072Chorea1ADCY5 CL E G H111236ORPHA:324588Familial dyskinesia and facial myokymiaHP:0040282 - Frequent25
HP:0004305HP:0001336Myoclonus1ADCY5 CL E G H111236OMIM:619651NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS AND DYSKINESIA; NEDHYD25
HP:0004305HP:0001337Tremor1ADCY5 CL E G H111236OMIM:619651NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS AND DYSKINESIA; NEDHYD25
HP:0004305HP:0002169Clonus1ADGRG1 CL E G H92894512OMIM:606854Polymicrogyria, bilateral frontoparietal88
HP:0004305HP:0000733Motor stereotypy1ADGRL1 CL E G H2285920973OMIM:620065
HP:0004305HP:0001337Tremor1ADGRV1 CL E G H8405917416ORPHA:36387Generalized epilepsy with febrile seizures-plusHP:0040284 - Very rare530
HP:0004305HP:0001337Tremor1ADH1C CL E G H126251OMIM:168600Parkinson disease, late-onset.4
HP:0004305HP:0000733Motor stereotypy1ADNP CL E G H2339415766OMIM:615873Helsmoortel-van der Aa syndrome.47
HP:0004305HP:0001337Tremor1ADPRS CL E G H5493621304OMIM:618170Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures.
HP:0004305HP:0002380Fasciculations1ADPRS CL E G H5493621304OMIM:618170Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures
HP:0004305HP:0001336Myoclonus1ADRA2B CL E G H151282ORPHA:86814Benign adult familial myoclonic epilepsyHP:0040281 - Very frequent3
HP:0004305HP:0001337Tremor1ADRA2B CL E G H151282ORPHA:86814Benign adult familial myoclonic epilepsy3
HP:0004305HP:0001336Myoclonus1ADSL CL E G H158291OMIM:103050Adenylosuccinase deficiency.118
HP:0004305HP:0000733Motor stereotypy1AFF2 CL E G H23343776ORPHA:100973FRAXE intellectual disability59
HP:0004305HP:0000733Motor stereotypy1AFF2 CL E G H23343776OMIM:309548Mental retardation, X-linked, associated with fragile site fraxe59
HP:0004305HP:0000733Motor stereotypy1AFF3 CL E G H38996473OMIM:619297KINSSHIP SYNDROME; KINS1
HP:0004305HP:0001336Myoclonus1AFF3 CL E G H38996473OMIM:619297KINSSHIP SYNDROME; KINS1
HP:0004305HP:0001336Myoclonus1AFG3L2 CL E G H10939315ORPHA:313772Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndromeHP:0040282 - Frequent86
HP:0004305HP:0001336Myoclonus1AFG3L2 CL E G H10939315OMIM:614487Spastic ataxia 5, autosomal recessive.86
HP:0004305HP:0001337Tremor1AFG3L2 CL E G H10939315ORPHA:101109Spinocerebellar ataxia type 2886
HP:0004305HP:0002380Fasciculations1AGTPBP1 CL E G H2328717258OMIM:618276Neurodegeneration, childhood-onset, with cerebellar atrophy1
HP:0004305HP:0002380Fasciculations1AGTPBP1 CL E G H2328717258ORPHA:2254Pontocerebellar hypoplasia type 11
HP:0004305HP:0001337Tremor1AHI1 CL E G H5480621575ORPHA:475Joubert syndromeHP:0040283 - Occasional175
HP:0004305HP:0001337Tremor1AHI1 CL E G H5480621575ORPHA:220493Joubert syndrome with ocular defectHP:0040283 - Occasional175
HP:0004305HP:0002380Fasciculations1AIFM1 CL E G H91318768OMIM:300816Combined oxidative phosphorylation deficiency 6.60
HP:0004305HP:0001337Tremor1AIFM1 CL E G H91318768ORPHA:83629Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndromeHP:0040282 - Frequent60
HP:0004305HP:0002380Fasciculations1AIFM1 CL E G H91318768ORPHA:238329Severe X-linked mitochondrial encephalomyopathy60
HP:0004305HP:0001337Tremor1AIFM1 CL E G H91318768ORPHA:101078X-linked Charcot-Marie-Tooth disease type 4HP:0040283 - Occasional60
HP:0004305HP:0001337Tremor1AKT1 CL E G H207391OMIM:615109Cowden syndrome 654
HP:0004305HP:0001336Myoclonus1AKT1 CL E G H207391ORPHA:2495Meningioma54
HP:0004305HP:0001336Myoclonus1AKT3 CL E G H10000393ORPHA:99802HemimegalencephalyHP:0040283 - Occasional19
HP:0004305HP:0001337Tremor1ALDH18A1 CL E G H58329722ORPHA:447753Autosomal dominant spastic paraplegia type 9AHP:0040283 - Occasional89
HP:0004305HP:0001337Tremor1ALDH18A1 CL E G H58329722ORPHA:447757Autosomal dominant spastic paraplegia type 9B89
HP:0004305HP:0001337Tremor1ALDH18A1 CL E G H58329722ORPHA:447760Autosomal recessive spastic paraplegia type 9B89
HP:0004305HP:0002305Athetosis1ALDH18A1 CL E G H58329722OMIM:219150Cutis laxa, autosomal recessive, type IIIA.89
HP:0004305HP:0001337Tremor1ALDH18A1 CL E G H58329722OMIM:601162Spastic paraplegia 9A, autosomal dominant89
HP:0004305HP:0001337Tremor1ALDH18A1 CL E G H58329722OMIM:616586Spastic paraplegia 9B, autosomal recessiveHP:0040283 - Occasional89
HP:0004305HP:0000733Motor stereotypy1ALKBH8 CL E G H9180125189OMIM:618504Intellectual developmental disorder, autosomal recessive 71.
HP:0004305HP:0001337Tremor1ALS2 CL E G H57679443OMIM:205100Amyotrophic lateral sclerosis 2, juvenile114
HP:0004305HP:0002169Clonus1ALS2 CL E G H57679443OMIM:205100Amyotrophic lateral sclerosis 2, juvenile114
HP:0004305HP:0001337Tremor1ALS2 CL E G H57679443ORPHA:300605Juvenile amyotrophic lateral sclerosis114
HP:0004305HP:0002072Chorea1ALS2 CL E G H57679443ORPHA:300605Juvenile amyotrophic lateral sclerosisHP:0040283 - Occasional114
HP:0004305HP:0002169Clonus1ALS2 CL E G H57679443ORPHA:300605Juvenile amyotrophic lateral sclerosisHP:0040283 - Occasional114
HP:0004305HP:0001337Tremor1AMACR CL E G H23600451OMIM:614307Alpha-methylacyl-CoA racemase deficiencyHP:0040283 - Occasional44
HP:0004305HP:0001337Tremor1AMACR CL E G H23600451ORPHA:79095Congenital bile acid synthesis defect type 4HP:0040283 - Occasional44
HP:0004305HP:0002169Clonus1AMPD2 CL E G H271469OMIM:615809Pontocerebellar hypoplasia, type 9.21
HP:0004305HP:0002169Clonus1AMPD2 CL E G H271469OMIM:615686Spastic paraplegia 63, autosomal recessive21
HP:0004305HP:0001336Myoclonus1AMT CL E G H275473OMIM:605899Glycine encephalopathy.56
HP:0004305HP:0001337Tremor1ANO10 CL E G H5512925519ORPHA:284289Adult-onset autosomal recessive cerebellar ataxia64
HP:0004305HP:0002169Clonus1ANO10 CL E G H5512925519ORPHA:284289Adult-onset autosomal recessive cerebellar ataxia64
HP:0004305HP:0002380Fasciculations1ANO10 CL E G H5512925519ORPHA:284289Adult-onset autosomal recessive cerebellar ataxiaHP:0040282 - Frequent64
HP:0004305HP:0001337Tremor1ANO10 CL E G H5512925519OMIM:613728Spinocerebellar ataxia, autosomal recessive 1064
HP:0004305HP:0002380Fasciculations1ANO10 CL E G H5512925519OMIM:613728Spinocerebellar ataxia, autosomal recessive 10.64
HP:0004305HP:0001336Myoclonus1ANO3 CL E G H6398214004ORPHA:420485Cranio-cervical dystonia with laryngeal and upper-limb involvementHP:0040283 - Occasional17
HP:0004305HP:0001337Tremor1ANO3 CL E G H6398214004ORPHA:420485Cranio-cervical dystonia with laryngeal and upper-limb involvement17
HP:0004305HP:0001337Tremor1ANO3 CL E G H6398214004OMIM:615034Dystonia 2417
HP:0004305HP:0001337Tremor1ANOS1 CL E G H37306211ORPHA:478Kallmann syndromeHP:0040283 - Occasional65
HP:0004305HP:0002380Fasciculations1ANXA11 CL E G H311535OMIM:619733INCLUSION BODY MYOPATHY AND BRAIN WHITE MATTER ABNORMALITIES; IBMWMA
HP:0004305HP:0002072Chorea1AP1S2 CL E G H8905560OMIM:304340Pettigrew syndrome13
HP:0004305HP:0002305Athetosis1AP1S2 CL E G H8905560OMIM:304340Pettigrew syndrome13
HP:0004305HP:0001336Myoclonus1AP2M1 CL E G H1173564OMIM:618587INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 60, WITH SEIZURES; MRD60
HP:0004305HP:0001337Tremor1AP2M1 CL E G H1173564OMIM:618587INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 60, WITH SEIZURES; MRD60
HP:0004305HP:0002072Chorea1AP2M1 CL E G H1173564OMIM:618587INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 60, WITH SEIZURES; MRD60
HP:0004305HP:0001337Tremor1AP2M1 CL E G H1173564ORPHA:1942Myoclonic-astatic epilepsyHP:0040283 - Occasional
HP:0004305HP:0001336Myoclonus1AP3B2 CL E G H8120567ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional7
HP:0004305HP:0001337Tremor1AP3B2 CL E G H8120567ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional7
HP:0004305HP:0000733Motor stereotypy1AP4B1 CL E G H10717572ORPHA:280763Severe intellectual disability and progressive spastic paraplegiaHP:0040283 - Occasional49
HP:0004305HP:0000733Motor stereotypy1AP4E1 CL E G H23431573ORPHA:280763Severe intellectual disability and progressive spastic paraplegiaHP:0040283 - Occasional48
HP:0004305HP:0000733Motor stereotypy1AP4M1 CL E G H9179574ORPHA:280763Severe intellectual disability and progressive spastic paraplegiaHP:0040283 - Occasional41
HP:0004305HP:0000733Motor stereotypy1AP4S1 CL E G H11154575ORPHA:280763Severe intellectual disability and progressive spastic paraplegiaHP:0040283 - Occasional18
HP:0004305HP:0001336Myoclonus1AP5Z1 CL E G H990722197ORPHA:306511Autosomal recessive spastic paraplegia type 48HP:0040282 - Frequent165
HP:0004305HP:0001337Tremor1APC2 CL E G H1029724036ORPHA:821Sotos syndromeHP:0040283 - Occasional1
HP:0004305HP:0001336Myoclonus1APOE CL E G H348613OMIM:607822Alzheimer disease 3.39
HP:0004305HP:0001336Myoclonus1APP CL E G H351620ORPHA:324708ABeta amyloidosis, Iowa typeHP:0040281 - Very frequent74
HP:0004305HP:0001336Myoclonus1APP CL E G H351620ORPHA:1020Early-onset autosomal dominant Alzheimer diseaseHP:0040281 - Very frequent74
HP:0004305HP:0001337Tremor1APTX CL E G H5484015984OMIM:208920Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia.61
HP:0004305HP:0002072Chorea1APTX CL E G H5484015984OMIM:208920Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia61
HP:0004305HP:0001337Tremor1AR CL E G H367644OMIM:313200Spinal and bulbar muscular atrophy, X-linked 1.125
HP:0004305HP:0002380Fasciculations1AR CL E G H367644OMIM:313200Spinal and bulbar muscular atrophy, X-linked 1.125
HP:0004305HP:0000733Motor stereotypy1ARID2 CL E G H19652818037OMIM:617808Coffin-siris syndrome 625
HP:0004305HP:0100033Tics1ARID2 CL E G H19652818037OMIM:617808Coffin-siris syndrome 625
HP:0004305HP:0001337Tremor1ARL13B CL E G H20089425419ORPHA:475Joubert syndromeHP:0040283 - Occasional62
HP:0004305HP:0001337Tremor1ARL3 CL E G H403694ORPHA:475Joubert syndromeHP:0040283 - Occasional1
HP:0004305HP:0001337Tremor1ARMC9 CL E G H8021020730ORPHA:475Joubert syndromeHP:0040283 - Occasional
HP:0004305HP:0000733Motor stereotypy1ARPC4 CL E G H10093707OMIM:620141
HP:0004305HP:0002072Chorea1ARSA CL E G H410713OMIM:250100Metachromatic leukodystrophy.253
HP:0004305HP:0001337Tremor1ARSA CL E G H410713ORPHA:309271Metachromatic leukodystrophy, adult form253
HP:0004305HP:0002072Chorea1ARSA CL E G H410713ORPHA:309271Metachromatic leukodystrophy, adult formHP:0040283 - Occasional253
HP:0004305HP:0001337Tremor1ARSA CL E G H410713ORPHA:309263Metachromatic leukodystrophy, juvenile form253
HP:0004305HP:0001336Myoclonus1ARV1 CL E G H6480129561ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional3
HP:0004305HP:0001337Tremor1ARV1 CL E G H6480129561ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional3
HP:0004305HP:0001336Myoclonus1ARX CL E G H17030218060OMIM:308350Developmental and epileptic encephalopathy 1166
HP:0004305HP:0002072Chorea1ARX CL E G H17030218060OMIM:308350Developmental and epileptic encephalopathy 1166
HP:0004305HP:0002305Athetosis1ARX CL E G H17030218060OMIM:308350Developmental and epileptic encephalopathy 1166
HP:0004305HP:0001336Myoclonus1ARX CL E G H17030218060ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional166
HP:0004305HP:0001337Tremor1ARX CL E G H17030218060ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional166
HP:0004305HP:0002072Chorea1ARX CL E G H17030218060ORPHA:1934Early infantile epileptic encephalopathy166
HP:0004305HP:0002305Athetosis1ARX CL E G H17030218060ORPHA:1934Early infantile epileptic encephalopathy166
HP:0004305HP:0001336Myoclonus1ARX CL E G H17030218060ORPHA:3451Infantile spasms syndromeHP:0040281 - Very frequent166
HP:0004305HP:0001336Myoclonus1ASAH1 CL E G H427735ORPHA:333Farber diseaseHP:0040283 - Occasional78
HP:0004305HP:0001336Myoclonus1ASAH1 CL E G H427735OMIM:159950Spinal muscular atrophy with progressive myoclonic epilepsy.78
HP:0004305HP:0001337Tremor1ASAH1 CL E G H427735OMIM:159950Spinal muscular atrophy with progressive myoclonic epilepsy.78
HP:0004305HP:0002380Fasciculations1ASAH1 CL E G H427735OMIM:159950Spinal muscular atrophy with progressive myoclonic epilepsy.78
HP:0004305HP:0001336Myoclonus1ASAH1 CL E G H427735ORPHA:2590Spinal muscular atrophy-progressive myoclonic epilepsy syndromeHP:0040281 - Very frequent78
HP:0004305HP:0001337Tremor1ASAH1 CL E G H427735ORPHA:2590Spinal muscular atrophy-progressive myoclonic epilepsy syndromeHP:0040282 - Frequent78
HP:0004305HP:0000733Motor stereotypy1ASH1L CL E G H5587019088OMIM:617796Mental retardation, autosomal dominant 521
HP:0004305HP:0000733Motor stereotypy1ASXL3 CL E G H8081629357ORPHA:352577Bainbridge-Ropers syndrome49
HP:0004305HP:0000733Motor stereotypy1ASXL3 CL E G H8081629357OMIM:615485BAINBRIDGE-ROPERS SYNDROME; BRPS49
HP:0004305HP:0001336Myoclonus1ATAD1 CL E G H8489625903ORPHA:3197Hereditary hyperekplexiaHP:0040281 - Very frequent
HP:0004305HP:0002380Fasciculations1ATAD1 CL E G H8489625903ORPHA:3197Hereditary hyperekplexiaHP:0040281 - Very frequent
HP:0004305HP:0001336Myoclonus1ATAD1 CL E G H8489625903OMIM:618011Hyperekplexia 4.
HP:0004305HP:0001337Tremor1ATCAY CL E G H85300779OMIM:601238Cerebellar ataxia, Cayman type72
HP:0004305HP:0001337Tremor1ATCAY CL E G H85300779ORPHA:94122Cerebellar ataxia, Cayman type72
HP:0004305HP:0001337Tremor1ATG7 CL E G H1053316935OMIM:619422SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 31; SCAR311
HP:0004305HP:0002072Chorea1ATG7 CL E G H1053316935OMIM:619422SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 31; SCAR311
HP:0004305HP:0002305Athetosis1ATG7 CL E G H1053316935OMIM:619422SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 31; SCAR311
HP:0004305HP:0002169Clonus1ATL1 CL E G H5106211231ORPHA:100984Autosomal dominant spastic paraplegia type 371
HP:0004305HP:0001336Myoclonus1ATM CL E G H472795OMIM:208900ATAXIA-TELANGIECTASIA.3267
HP:0004305HP:0001337Tremor1ATM CL E G H472795ORPHA:100Ataxia-telangiectasiaHP:0040281 - Very frequent3267
HP:0004305HP:0001337Tremor1ATM CL E G H472795OMIM:208900ATAXIA-TELANGIECTASIA.3267
HP:0004305HP:0002072Chorea1ATM CL E G H472795OMIM:208900ATAXIA-TELANGIECTASIA3267
HP:0004305HP:0002305Athetosis1ATM CL E G H472795OMIM:208900ATAXIA-TELANGIECTASIA3267
HP:0004305HP:0001336Myoclonus1ATN1 CL E G H18223033ORPHA:101Dentatorubral pallidoluysian atrophyHP:0040282 - Frequent16
HP:0004305HP:0001337Tremor1ATN1 CL E G H18223033ORPHA:101Dentatorubral pallidoluysian atrophy16
HP:0004305HP:0002072Chorea1ATN1 CL E G H18223033ORPHA:101Dentatorubral pallidoluysian atrophy16
HP:0004305HP:0002305Athetosis1ATN1 CL E G H18223033ORPHA:101Dentatorubral pallidoluysian atrophy16
HP:0004305HP:0001336Myoclonus1ATN1 CL E G H18223033OMIM:125370Dentatorubral-Pallidoluysian atrophy naito-oyanagi disease haw river syndrome ataxia, chorea, seizures, and dementia16
HP:0004305HP:0002072Chorea1ATN1 CL E G H18223033OMIM:125370Dentatorubral-Pallidoluysian atrophy naito-oyanagi disease haw river syndrome ataxia, chorea, seizures, and dementia16
HP:0004305HP:0002305Athetosis1ATN1 CL E G H18223033OMIM:125370Dentatorubral-Pallidoluysian atrophy naito-oyanagi disease haw river syndrome ataxia, chorea, seizures, and dementia16
HP:0004305HP:0002380Fasciculations1ATP11A CL E G H2325013552OMIM:619851LEUKODYSTROPHY, HYPOMYELINATING, 24; HLD24
HP:0004305HP:0001336Myoclonus1ATP13A2 CL E G H2340030213ORPHA:314632ATP13A2-related juvenile neuronal ceroid lipofuscinosisHP:0040282 - Frequent100
HP:0004305HP:0001337Tremor1ATP13A2 CL E G H2340030213ORPHA:314632ATP13A2-related juvenile neuronal ceroid lipofuscinosisHP:0040282 - Frequent100
HP:0004305HP:0001336Myoclonus1ATP13A2 CL E G H2340030213ORPHA:306674Kufor-Rakeb syndromeHP:0040282 - Frequent100
HP:0004305HP:0001336Myoclonus1ATP13A2 CL E G H2340030213OMIM:606693Kufor-Rakeb syndrome100
HP:0004305HP:0001337Tremor1ATP13A2 CL E G H2340030213OMIM:606693Kufor-Rakeb syndrome100
HP:0004305HP:0001337Tremor1ATP13A2 CL E G H2340030213OMIM:617225SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE; SPG78100
HP:0004305HP:0001337Tremor1ATP1A2 CL E G H477800ORPHA:2131Alternating hemiplegia of childhoodHP:0040283 - Occasional239
HP:0004305HP:0002072Chorea1ATP1A2 CL E G H477800ORPHA:2131Alternating hemiplegia of childhoodHP:0040283 - Occasional239
HP:0004305HP:0002305Athetosis1ATP1A2 CL E G H477800ORPHA:2131Alternating hemiplegia of childhood239
HP:0004305HP:0007166Paroxysmal dyskinesia1ATP1A2 CL E G H477800ORPHA:2131Alternating hemiplegia of childhoodHP:0040283 - Occasional239
HP:0004305HP:0002072Chorea1ATP1A2 CL E G H477800OMIM:104290Alternating hemiplegia of childhood 1239
HP:0004305HP:0002305Athetosis1ATP1A2 CL E G H477800OMIM:104290Alternating hemiplegia of childhood 1239
HP:0004305HP:0002380Fasciculations1ATP1A2 CL E G H477800ORPHA:569Familial or sporadic hemiplegic migraine239
HP:0004305HP:0032506Alien limb phenomenon1ATP1A2 CL E G H477800ORPHA:569Familial or sporadic hemiplegic migraineHP:0040283 - Occasional239
HP:0004305HP:0001337Tremor1ATP1A2 CL E G H477800OMIM:602481Migraine, familial hemiplegic, 2239
HP:0004305HP:0001336Myoclonus1ATP1A2 CL E G H477800ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional239
HP:0004305HP:0001337Tremor1ATP1A2 CL E G H477800ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional239
HP:0004305HP:0001337Tremor1ATP1A3 CL E G H478801ORPHA:2131Alternating hemiplegia of childhoodHP:0040283 - Occasional150
HP:0004305HP:0002072Chorea1ATP1A3 CL E G H478801ORPHA:2131Alternating hemiplegia of childhoodHP:0040283 - Occasional150
HP:0004305HP:0002305Athetosis1ATP1A3 CL E G H478801ORPHA:2131Alternating hemiplegia of childhood150
HP:0004305HP:0007166Paroxysmal dyskinesia1ATP1A3 CL E G H478801ORPHA:2131Alternating hemiplegia of childhoodHP:0040283 - Occasional150
HP:0004305HP:0002072Chorea1ATP1A3 CL E G H478801OMIM:614820Alternating hemiplegia of childhood 2150
HP:0004305HP:0002305Athetosis1ATP1A3 CL E G H478801OMIM:614820Alternating hemiplegia of childhood 2150
HP:0004305HP:0001336Myoclonus1ATP1A3 CL E G H478801OMIM:619606DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 99; DEE99150
HP:0004305HP:0001337Tremor1ATP1A3 CL E G H478801OMIM:128235Dystonia 12150
HP:0004305HP:0001336Myoclonus1ATP1A3 CL E G H478801ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional150
HP:0004305HP:0001337Tremor1ATP1A3 CL E G H478801ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional150
HP:0004305HP:0001337Tremor1ATP1A3 CL E G H478801ORPHA:71517Rapid-onset dystonia-parkinsonism150
HP:0004305HP:0001337Tremor1ATP2B3 CL E G H492816OMIM:302500Spinocerebellar ataxia, X-linked 119
HP:0004305HP:0001337Tremor1ATP2B3 CL E G H492816ORPHA:314978X-linked non progressive cerebellar ataxia19
HP:0004305HP:0002072Chorea1ATP5MK CL E G H8483330889OMIM:618683MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 6; MC5DN6
HP:0004305HP:0001336Myoclonus1ATP6 CL E G H45087414ORPHA:225154Familial infantile bilateral striatal necrosisHP:0040283 - Occasional
HP:0004305HP:0002072Chorea1ATP6 CL E G H45087414ORPHA:225154Familial infantile bilateral striatal necrosis
HP:0004305HP:0002305Athetosis1ATP6 CL E G H45087414ORPHA:225154Familial infantile bilateral striatal necrosis
HP:0004305HP:0001337Tremor1ATP6 CL E G H45087414ORPHA:104Leber hereditary optic neuropathy
HP:0004305HP:0001337Tremor1ATP6 CL E G H45087414OMIM:535000Leber optic atrophy
HP:0004305HP:0002072Chorea1ATP6 CL E G H45087414ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040282 - Frequent
HP:0004305HP:0001336Myoclonus1ATP6 CL E G H45087414ORPHA:644NARP syndrome
HP:0004305HP:0001337Tremor1ATP6AP2 CL E G H1015918305OMIM:300423MENTAL RETARDATION, X-LINKED, SYNDROMIC, HEDERA TYPE; MRXSH36
HP:0004305HP:0001337Tremor1ATP6AP2 CL E G H1015918305OMIM:300911Parkinsonism with spasticity, X-linked36
HP:0004305HP:0001337Tremor1ATP6AP2 CL E G H1015918305ORPHA:93952X-linked intellectual disability, Hedera type36
HP:0004305HP:0001337Tremor1ATP6AP2 CL E G H1015918305ORPHA:363654X-linked parkinsonism-spasticity syndrome36
HP:0004305HP:0002169Clonus1ATP6AP2 CL E G H1015918305ORPHA:363654X-linked parkinsonism-spasticity syndrome36
HP:0004305HP:0001336Myoclonus1ATP6V0A1 CL E G H535865OMIM:6199711
HP:0004305HP:0001336Myoclonus1ATP6V1A CL E G H523851ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional3
HP:0004305HP:0001337Tremor1ATP6V1A CL E G H523851ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional3
HP:0004305HP:0001336Myoclonus1ATP6V1B2 CL E G H526854ORPHA:79500DOORS syndromeHP:0040283 - Occasional5
HP:0004305HP:0002072Chorea1ATP7A CL E G H538869ORPHA:565Menkes diseaseHP:0040283 - Occasional192
HP:0004305HP:0001337Tremor1ATP7B CL E G H540870OMIM:277900Wilson disease.315
HP:0004305HP:0001337Tremor1ATP8B1 CL E G H52053706ORPHA:69665Intrahepatic cholestasis of pregnancyHP:0040284 - Very rare144
HP:0004305HP:0000733Motor stereotypy1ATRX CL E G H546886OMIM:301040Alpha-Thalassemia/mental retardation syndrome, X-linked169
HP:0004305HP:0002072Chorea1ATXN1 CL E G H631010548OMIM:164400Spinocerebellar ataxia 1.19
HP:0004305HP:0002380Fasciculations1ATXN1 CL E G H631010548OMIM:164400Spinocerebellar ataxia 119
HP:0004305HP:0001337Tremor1ATXN1 CL E G H631010548ORPHA:98755Spinocerebellar ataxia type 119
HP:0004305HP:0002072Chorea1ATXN1 CL E G H631010548ORPHA:98755Spinocerebellar ataxia type 1HP:0040282 - Frequent19
HP:0004305HP:0002380Fasciculations1ATXN1 CL E G H631010548ORPHA:98755Spinocerebellar ataxia type 1HP:0040283 - Occasional19
HP:0004305HP:0002380Fasciculations1ATXN10 CL E G H2581410549OMIM:603516Spinocerebellar ataxia 109
HP:0004305HP:0001337Tremor1ATXN10 CL E G H2581410549ORPHA:98761Spinocerebellar ataxia type 109
HP:0004305HP:0001337Tremor1ATXN2 CL E G H631110555OMIM:168600Parkinson disease, late-onset.11
HP:0004305HP:0001336Myoclonus1ATXN2 CL E G H631110555OMIM:183090Spinocerebellar ataxia 2.11
HP:0004305HP:0001337Tremor1ATXN2 CL E G H631110555OMIM:183090Spinocerebellar ataxia 211
HP:0004305HP:0002380Fasciculations1ATXN2 CL E G H631110555OMIM:183090Spinocerebellar ataxia 2.11
HP:0004305HP:0001337Tremor1ATXN2 CL E G H631110555ORPHA:98756Spinocerebellar ataxia type 211
HP:0004305HP:0002072Chorea1ATXN2 CL E G H631110555ORPHA:98756Spinocerebellar ataxia type 2HP:0040282 - Frequent11
HP:0004305HP:0002380Fasciculations1ATXN2 CL E G H631110555ORPHA:98756Spinocerebellar ataxia type 2HP:0040282 - Frequent11
HP:0004305HP:0002380Fasciculations1ATXN3 CL E G H42877106OMIM:109150Machado-Joseph disease14
HP:0004305HP:0002380Fasciculations1ATXN3 CL E G H42877106ORPHA:276238Machado-Joseph disease type 114
HP:0004305HP:0002380Fasciculations1ATXN3 CL E G H42877106ORPHA:276241Machado-Joseph disease type 214
HP:0004305HP:0002380Fasciculations1ATXN3 CL E G H42877106ORPHA:276244Machado-Joseph disease type 314
HP:0004305HP:0001337Tremor1ATXN7 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:0004305HP:0002072Chorea1ATXN7 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 II.8
HP:0004305HP:0001337Tremor1ATXN8 CL E G H72406632925OMIM:608768Spinocerebellar ataxia 8.1
HP:0004305HP:0001337Tremor1ATXN8OS CL E G H631510561OMIM:168600Parkinson disease, late-onset.1
HP:0004305HP:0001337Tremor1ATXN8OS CL E G H631510561OMIM:608768Spinocerebellar ataxia 8.1
HP:0004305HP:0002305Athetosis1AUH CL E G H549890OMIM:2509503-methylglutaconic aciduria, type I49
HP:0004305HP:0000733Motor stereotypy1AUTS2 CL E G H2605314262ORPHA:352490Autism spectrum disorder due to AUTS2 deficiencyHP:0040282 - Frequent61
HP:0004305HP:0001337Tremor1B9D1 CL E G H2707724123ORPHA:475Joubert syndromeHP:0040283 - Occasional28
HP:0004305HP:0001337Tremor1B9D2 CL E G H8077628636ORPHA:475Joubert syndromeHP:0040283 - Occasional34
HP:0004305HP:0001336Myoclonus1BAP1 CL E G H8314950ORPHA:2495Meningioma184
HP:0004305HP:0001337Tremor1BAZ1B CL E G H9031961ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0004305HP:0001337Tremor1BCL7B CL E G H92751005ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0004305HP:0000733Motor stereotypy1BCORL1 CL E G H6303525657OMIM:301029Shukla-Vernon syndrome.17
HP:0004305HP:0100033Tics1BCR CL E G H6131014ORPHA:261330Distal 22q11.2 microdeletion syndromeHP:0040283 - Occasional5
HP:0004305HP:0001337Tremor1BEAN1 CL E G H14622724160ORPHA:217012Spinocerebellar ataxia type 31HP:0040283 - Occasional1
HP:0004305HP:0002380Fasciculations1BICD2 CL E G H2329917208OMIM:615290Spinal muscular atrophy, lower extremity-predominant, 2, autosomaldominantHP:0040283 - Occasional46
HP:0004305HP:0000733Motor stereotypy1BICRA CL E G H299984332OMIM:619325COFFIN-SIRIS SYNDROME 12; CSS122
HP:0004305HP:0001336Myoclonus1BOLA3 CL E G H38896224415OMIM:614299Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemiaHP:0040283 - Occasional14
HP:0004305HP:0000733Motor stereotypy1BRAF CL E G H6731097OMIM:115150Cardiofaciocutaneous syndrome 1276
HP:0004305HP:0001337Tremor1BRAT1 CL E G H22192721701OMIM:618056Neurodevelopmental disorder with cerebellar atrophy and with or without seizures.20
HP:0004305HP:0001336Myoclonus1BRAT1 CL E G H22192721701OMIM:614498Rigidity and multifocal seizure syndrome, lethal neonatal20
HP:0004305HP:0002169Clonus1BRAT1 CL E G H22192721701OMIM:614498Rigidity and multifocal seizure syndrome, lethal neonatal.20
HP:0004305HP:0001337Tremor1BSCL2 CL E G H2658015832ORPHA:100998Autosomal dominant spastic paraplegia type 17105
HP:0004305HP:0001336Myoclonus1BSCL2 CL E G H2658015832OMIM:615924Encephalopathy, progressive, with or without lipodystrophy.105
HP:0004305HP:0001337Tremor1BSCL2 CL E G H2658015832OMIM:615924Encephalopathy, progressive, with or without lipodystrophy.105
HP:0004305HP:0001336Myoclonus1BSCL2 CL E G H2658015832ORPHA:363400Severe neurodegenerative syndrome with lipodystrophyHP:0040282 - Frequent105
HP:0004305HP:0001337Tremor1BSCL2 CL E G H2658015832ORPHA:363400Severe neurodegenerative syndrome with lipodystrophyHP:0040282 - Frequent105
HP:0004305HP:0001337Tremor1BSCL2 CL E G H2658015832OMIM:270685Spastic paraplegia 17105
HP:0004305HP:0001337Tremor1BUD23 CL E G H11404916405ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0004305HP:0001337Tremor1C19ORF12 CL E G H8363625443ORPHA:289560Mitochondrial membrane protein-associated neurodegeneration114
HP:0004305HP:0001337Tremor1C19ORF12 CL E G H8363625443OMIM:614298Neurodegeneration with brain iron accumulation 4.114
HP:0004305HP:0000733Motor stereotypy1C9ORF72 CL E G H20322828337ORPHA:275864Behavioral variant of frontotemporal dementiaHP:0040281 - Very frequent56
HP:0004305HP:0002380Fasciculations1C9ORF72 CL E G H20322828337ORPHA:275864Behavioral variant of frontotemporal dementiaHP:0040283 - Occasional56
HP:0004305HP:0002380Fasciculations1C9ORF72 CL E G H20322828337ORPHA:275872Frontotemporal dementia with motor neuron diseaseHP:0040283 - Occasional56
HP:0004305HP:0001336Myoclonus1C9ORF72 CL E G H20322828337ORPHA:401901Huntington disease-like syndrome due to C9ORF72 expansionsHP:0040284 - Very rare56
HP:0004305HP:0001337Tremor1C9ORF72 CL E G H20322828337ORPHA:401901Huntington disease-like syndrome due to C9ORF72 expansionsHP:0040283 - Occasional56
HP:0004305HP:0002072Chorea1C9ORF72 CL E G H20322828337ORPHA:401901Huntington disease-like syndrome due to C9ORF72 expansionsHP:0040282 - Frequent56
HP:0004305HP:0001337Tremor1CA8 CL E G H7671382OMIM:613227Cerebellar ataxia, mental retardation, and dysequilibrium syndrome3.8
HP:0004305HP:0000733Motor stereotypy1CABP4 CL E G H570101386ORPHA:98784Autosomal dominant nocturnal frontal lobe epilepsyHP:0040282 - Frequent94
HP:0004305HP:0001337Tremor1CACNA1A CL E G H7731388ORPHA:2131Alternating hemiplegia of childhoodHP:0040283 - Occasional449
HP:0004305HP:0002072Chorea1CACNA1A CL E G H7731388ORPHA:2131Alternating hemiplegia of childhoodHP:0040283 - Occasional449
HP:0004305HP:0002305Athetosis1CACNA1A CL E G H7731388ORPHA:2131Alternating hemiplegia of childhood449
HP:0004305HP:0007166Paroxysmal dyskinesia1CACNA1A CL E G H7731388ORPHA:2131Alternating hemiplegia of childhoodHP:0040283 - Occasional449
HP:0004305HP:0001337Tremor1CACNA1A CL E G H7731388OMIM:617106Epileptic encephalopathy, early infantile, 42.449
HP:0004305HP:0002305Athetosis1CACNA1A CL E G H7731388OMIM:617106Epileptic encephalopathy, early infantile, 42.449
HP:0004305HP:0002380Fasciculations1CACNA1A CL E G H7731388ORPHA:569Familial or sporadic hemiplegic migraine449
HP:0004305HP:0032506Alien limb phenomenon1CACNA1A CL E G H7731388ORPHA:569Familial or sporadic hemiplegic migraineHP:0040283 - Occasional449
HP:0004305HP:0001336Myoclonus1CACNA1A CL E G H7731388ORPHA:2382Lennox-Gastaut syndromeHP:0040282 - Frequent449
HP:0004305HP:0001337Tremor1CACNA1A CL E G H7731388OMIM:141500Migraine, familial hemiplegic, 1HP:0040283 - Occasional449
HP:0004305HP:0001336Myoclonus1CACNA1A CL E G H7731388ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional449
HP:0004305HP:0001337Tremor1CACNA1A CL E G H7731388ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional449
HP:0004305HP:0001337Tremor1CACNA1A CL E G H7731388ORPHA:98758Spinocerebellar ataxia type 6449
HP:0004305HP:0001336Myoclonus1CACNA1B CL E G H7741389OMIM:618497Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements.5
HP:0004305HP:0002072Chorea1CACNA1B CL E G H7741389OMIM:618497Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements5
HP:0004305HP:0002305Athetosis1CACNA1B CL E G H7741389OMIM:618497Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements5
HP:0004305HP:0001336Myoclonus1CACNA1B CL E G H7741389ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional5
HP:0004305HP:0001337Tremor1CACNA1B CL E G H7741389ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional5
HP:0004305HP:0001337Tremor1CACNA1C CL E G H7751390OMIM:620029572
HP:0004305HP:0002305Athetosis1CACNA1D CL E G H7761391OMIM:615474Primary aldosteronism, seizures, and neurologic abnormalitiesHP:0040283 - Occasional51
HP:0004305HP:0002305Athetosis1CACNA1D CL E G H7761391ORPHA:369929Primary hyperaldosteronism-seizures-neurological abnormalities syndromeHP:0040282 - Frequent51
HP:0004305HP:0001336Myoclonus1CACNA1E CL E G H7771392OMIM:618285Developmental and epileptic encephalopathy 69.11
HP:0004305HP:0001337Tremor1CACNA1G CL E G H89131394OMIM:616795Spinocerebellar ataxia 42HP:0040283 - Occasional32
HP:0004305HP:0001337Tremor1CACNA1G CL E G H89131394ORPHA:458803Spinocerebellar ataxia type 4232
HP:0004305HP:0000733Motor stereotypy1CACNA1H CL E G H89121395ORPHA:64280Childhood absence epilepsy75
HP:0004305HP:0001336Myoclonus1CACNA1H CL E G H89121395ORPHA:64280Childhood absence epilepsy75
HP:0004305HP:0001337Tremor1CACNA1S CL E G H7791397ORPHA:79102Thyrotoxic periodic paralysisHP:0040282 - Frequent247
HP:0004305HP:0001336Myoclonus1CACNA2D1 CL E G H7811399ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional59
HP:0004305HP:0001337Tremor1CACNA2D1 CL E G H7811399ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional59
HP:0004305HP:0002072Chorea1CACNA2D2 CL E G H92541400OMIM:618501Cerebellar atrophy with seizures and variable developmental delay.48
HP:0004305HP:0001336Myoclonus1CACNB4 CL E G H7851404OMIM:607682Epilepsy, idiopathic generalized, susceptibility to, 9146
HP:0004305HP:0001336Myoclonus1CACNB4 CL E G H7851404OMIM:613855Episodic ataxia, type 5146
HP:0004305HP:0001336Myoclonus1CACNB4 CL E G H7851404ORPHA:307Juvenile myoclonic epilepsy146
HP:0004305HP:0000733Motor stereotypy1CAMTA1 CL E G H2326118806OMIM:614756Cerebellar ataxia, nonprogressive, with mental retardation34
HP:0004305HP:0001337Tremor1CAMTA1 CL E G H2326118806OMIM:614756Cerebellar ataxia, nonprogressive, with mental retardation34
HP:0004305HP:0001337Tremor1CAMTA1 CL E G H2326118806ORPHA:314647Non-progressive cerebellar ataxia with intellectual disability34
HP:0004305HP:0002169Clonus1CAPN1 CL E G H8231476ORPHA:488594Autosomal recessive spastic paraplegia type 764
HP:0004305HP:0002169Clonus1CARS1 CL E G H8331493OMIM:618891MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME; MDBH
HP:0004305HP:0001337Tremor1CARS1 CL E G H8331493ORPHA:33364Trichothiodystrophy
HP:0004305HP:0001337Tremor1CARS2 CL E G H7958725695ORPHA:477774Combined oxidative phosphorylation defect type 2735
HP:0004305HP:0001336Myoclonus1CARS2 CL E G H7958725695OMIM:616672Combined oxidative phosphorylation deficiency 27.35
HP:0004305HP:0002072Chorea1CARS2 CL E G H7958725695OMIM:616672Combined oxidative phosphorylation deficiency 27.35
HP:0004305HP:0001336Myoclonus1CASK CL E G H85731497ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional118
HP:0004305HP:0001337Tremor1CASK CL E G H85731497ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional118
HP:0004305HP:0002072Chorea1CASK CL E G H85731497ORPHA:1934Early infantile epileptic encephalopathy118
HP:0004305HP:0002305Athetosis1CASK CL E G H85731497ORPHA:1934Early infantile epileptic encephalopathy118
HP:0004305HP:0001336Myoclonus1CASR CL E G H8461514ORPHA:428Autosomal dominant hypocalcemia272
HP:0004305HP:0000733Motor stereotypy1CASZ1 CL E G H5489726002ORPHA:16061p36 deletion syndromeHP:0040282 - Frequent3
HP:0004305HP:0002169Clonus1CAV1 CL E G H8571527OMIM:606721Lipodystrophy, familial partial, type 7.11
HP:0004305HP:0001337Tremor1CBY1 CL E G H257761307ORPHA:475Joubert syndromeHP:0040283 - Occasional1
HP:0004305HP:0001337Tremor1CC2D2A CL E G H5754529253ORPHA:1454Joubert syndrome with hepatic defectHP:0040283 - Occasional247
HP:0004305HP:0001337Tremor1CCDC141 CL E G H28502526821ORPHA:478Kallmann syndromeHP:0040283 - Occasional
HP:0004305HP:0001336Myoclonus1CCDC88A CL E G H5570425523OMIM:617507Peho-Like syndrome.1
HP:0004305HP:0001337Tremor1CCDC88C CL E G H44019319967OMIM:616053Spinocerebellar ataxia 4054
HP:0004305HP:0001337Tremor1CCDC88C CL E G H44019319967ORPHA:423275Spinocerebellar ataxia type 4054
HP:0004305HP:0002380Fasciculations1CCNF CL E G H8991591OMIM:619141FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 5; FTDALS5
HP:0004305HP:0002169Clonus1CCT5 CL E G H229481618ORPHA:139578Mutilating hereditary sensory neuropathy with spastic paraplegiaHP:0040282 - Frequent56
HP:0004305HP:0002169Clonus1CCT5 CL E G H229481618OMIM:256840Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive.56
HP:0004305HP:0001337Tremor1CD28 CL E G H9401653ORPHA:3162Sézary syndromeHP:0040283 - Occasional
HP:0004305HP:0002169Clonus1CD40LG CL E G H95911935OMIM:308230Immunodeficiency, X-linked, with hyper-IgM33
HP:0004305HP:0001337Tremor1CDC42BPB CL E G H95781738OMIM:619841
HP:0004305HP:0001337Tremor1CDH23 CL E G H6407213733ORPHA:91347TSH-secreting pituitary adenomaHP:0040282 - Frequent636
HP:0004305HP:0000733Motor stereotypy1CDK19 CL E G H2309719338OMIM:618916DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 87; DEE87
HP:0004305HP:0001336Myoclonus1CDK19 CL E G H2309719338ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional
HP:0004305HP:0001337Tremor1CDK19 CL E G H2309719338ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional
HP:0004305HP:0000733Motor stereotypy1CDKL5 CL E G H679211411ORPHA:3095Atypical Rett syndrome405
HP:0004305HP:0001336Myoclonus1CDKL5 CL E G H679211411ORPHA:3095Atypical Rett syndrome405
HP:0004305HP:0001337Tremor1CDKL5 CL E G H679211411ORPHA:3095Atypical Rett syndromeHP:0040283 - Occasional405
HP:0004305HP:0000733Motor stereotypy1CDKL5 CL E G H679211411ORPHA:505652CDKL5-deficiency disorder405
HP:0004305HP:0000733Motor stereotypy1CDKL5 CL E G H679211411OMIM:300672Developmental and epileptic encephalopathy 2405
HP:0004305HP:0001336Myoclonus1CDKL5 CL E G H679211411OMIM:300672Developmental and epileptic encephalopathy 2405
HP:0004305HP:0001336Myoclonus1CDKL5 CL E G H679211411ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional405
HP:0004305HP:0001337Tremor1CDKL5 CL E G H679211411ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional405
HP:0004305HP:0002072Chorea1CDKL5 CL E G H679211411ORPHA:1934Early infantile epileptic encephalopathy405
HP:0004305HP:0002305Athetosis1CDKL5 CL E G H679211411ORPHA:1934Early infantile epileptic encephalopathy405
HP:0004305HP:0001336Myoclonus1CDKL5 CL E G H679211411ORPHA:3451Infantile spasms syndromeHP:0040281 - Very frequent405
HP:0004305HP:0000733Motor stereotypy1CELF2 CL E G H106592550OMIM:619561DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 97; DEE97
HP:0004305HP:0001337Tremor1CELF2 CL E G H106592550OMIM:619561DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 97; DEE97
HP:0004305HP:0001336Myoclonus1CELF2 CL E G H106592550ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional
HP:0004305HP:0001337Tremor1CELF2 CL E G H106592550ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional
HP:0004305HP:0001337Tremor1CEP104 CL E G H973124866OMIM:6199885
HP:0004305HP:0001337Tremor1CEP104 CL E G H973124866ORPHA:475Joubert syndromeHP:0040283 - Occasional5
HP:0004305HP:0001337Tremor1CEP120 CL E G H15324126690ORPHA:475Joubert syndromeHP:0040283 - Occasional7
HP:0004305HP:0001337Tremor1CEP120 CL E G H15324126690ORPHA:220493Joubert syndrome with ocular defectHP:0040283 - Occasional7
HP:0004305HP:0001337Tremor1CEP126 CL E G H5756229264ORPHA:65684Monomelic amyotrophyHP:0040283 - Occasional
HP:0004305HP:0002380Fasciculations1CEP126 CL E G H5756229264ORPHA:65684Monomelic amyotrophyHP:0040283 - Occasional
HP:0004305HP:0100033Tics1CEP152 CL E G H2299529298OMIM:614852Microcephaly 9, primary, autosomal recessive146
HP:0004305HP:0001337Tremor1CEP41 CL E G H9568112370ORPHA:475Joubert syndromeHP:0040283 - Occasional90
HP:0004305HP:0001337Tremor1CEP41 CL E G H9568112370ORPHA:220493Joubert syndrome with ocular defectHP:0040283 - Occasional90
HP:0004305HP:0000733Motor stereotypy1CEP85L CL E G H38711921638ORPHA:572013Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome1
HP:0004305HP:0001336Myoclonus1CERS1 CL E G H1071514253OMIM:616230Epilepsy, progressive myoclonic, 8.1
HP:0004305HP:0002072Chorea1CERS1 CL E G H1071514253OMIM:616230Epilepsy, progressive myoclonic, 81
HP:0004305HP:0002305Athetosis1CERS1 CL E G H1071514253OMIM:616230Epilepsy, progressive myoclonic, 81
HP:0004305HP:0000733Motor stereotypy1CERT1 CL E G H100872205OMIM:616351Mental retardation, autosomal dominant 34.
HP:0004305HP:0000733Motor stereotypy1CHAMP1 CL E G H28348920311OMIM:616579Mental retardation, autosomal dominant 40.16
HP:0004305HP:0002380Fasciculations1CHCHD10 CL E G H40091615559ORPHA:275872Frontotemporal dementia with motor neuron diseaseHP:0040283 - Occasional11
HP:0004305HP:0001337Tremor1CHCHD10 CL E G H40091615559ORPHA:276435Lower motor neuron syndrome with late-adult onsetHP:0040283 - Occasional11
HP:0004305HP:0002380Fasciculations1CHCHD10 CL E G H40091615559ORPHA:276435Lower motor neuron syndrome with late-adult onsetHP:0040282 - Frequent11
HP:0004305HP:0001337Tremor1CHCHD10 CL E G H40091615559OMIM:615048Spinal muscular atrophy, Jokela typeHP:0040283 - Occasional11
HP:0004305HP:0002380Fasciculations1CHCHD10 CL E G H40091615559OMIM:615048Spinal muscular atrophy, Jokela type.11
HP:0004305HP:0001337Tremor1CHCHD2 CL E G H5114221645OMIM:616710Parkinson disease 22, autosomal dominant.3
HP:0004305HP:0000733Motor stereotypy1CHD1 CL E G H11051915ORPHA:529965Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndromeHP:0040283 - Occasional2
HP:0004305HP:0001336Myoclonus1CHD2 CL E G H11061917ORPHA:2382Lennox-Gastaut syndromeHP:0040282 - Frequent227
HP:0004305HP:0001337Tremor1CHD2 CL E G H11061917ORPHA:1942Myoclonic-astatic epilepsyHP:0040283 - Occasional227
HP:0004305HP:0000733Motor stereotypy1CHD3 CL E G H11071918OMIM:618205Snijders blok-campeau syndrome.2
HP:0004305HP:0001337Tremor1CHD7 CL E G H5563620626ORPHA:478Kallmann syndromeHP:0040283 - Occasional515
HP:0004305HP:0000733Motor stereotypy1CHD8 CL E G H5768020153OMIM:615032AUTISM, SUSCEPTIBILITY TO, 18; AUTS1872
HP:0004305HP:0002072Chorea1CHKA CL E G H11191937OMIM:620023
HP:0004305HP:0002305Athetosis1CHKA CL E G H11191937OMIM:620023
HP:0004305HP:0002072Chorea1CHMP1A CL E G H51198740OMIM:614961Pontocerebellar hypoplasia, type 8.19
HP:0004305HP:0000733Motor stereotypy1CHMP2B CL E G H2597824537ORPHA:275864Behavioral variant of frontotemporal dementiaHP:0040281 - Very frequent42
HP:0004305HP:0002380Fasciculations1CHMP2B CL E G H2597824537ORPHA:275864Behavioral variant of frontotemporal dementiaHP:0040283 - Occasional42
HP:0004305HP:0000733Motor stereotypy1CHMP2B CL E G H2597824537OMIM:600795Frontotemporal dementia and/or amytrophic lateral sclerosis 7.42
HP:0004305HP:0001336Myoclonus1CHMP2B CL E G H2597824537OMIM:600795Frontotemporal dementia and/or amytrophic lateral sclerosis 7.42
HP:0004305HP:0000733Motor stereotypy1CHRNA2 CL E G H11351956ORPHA:98784Autosomal dominant nocturnal frontal lobe epilepsyHP:0040282 - Frequent188
HP:0004305HP:0000733Motor stereotypy1CHRNA4 CL E G H11371958ORPHA:98784Autosomal dominant nocturnal frontal lobe epilepsyHP:0040282 - Frequent225
HP:0004305HP:0000733Motor stereotypy1CHRNB2 CL E G H11411962ORPHA:98784Autosomal dominant nocturnal frontal lobe epilepsyHP:0040282 - Frequent88
HP:0004305HP:0000733Motor stereotypy1CIC CL E G H2315214214OMIM:617600Mental retardation, autosomal dominant 4539
HP:0004305HP:0001336Myoclonus1CIC CL E G H2315214214OMIM:617600Mental retardation, autosomal dominant 4539
HP:0004305HP:0002072Chorea1CIC CL E G H2315214214OMIM:617600Mental retardation, autosomal dominant 4539
HP:0004305HP:0001336Myoclonus1CILK1 CL E G H2285821219ORPHA:307Juvenile myoclonic epilepsy
HP:0004305HP:0001336Myoclonus1CIZ1 CL E G H2579216744ORPHA:420492Adult-onset cervical dystonia, DYT23 typeHP:0040282 - Frequent16
HP:0004305HP:0001337Tremor1CIZ1 CL E G H2579216744ORPHA:420492Adult-onset cervical dystonia, DYT23 type16
HP:0004305HP:0001336Myoclonus1CLCN2 CL E G H11812020ORPHA:307Juvenile myoclonic epilepsy44
HP:0004305HP:0001337Tremor1CLCN2 CL E G H11812020OMIM:615651Leukoencephalopathy with ataxia44
HP:0004305HP:0000733Motor stereotypy1CLCN3 CL E G H11822021OMIM:619512NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA2
HP:0004305HP:0001336Myoclonus1CLCN4 CL E G H11832022ORPHA:485350CLCN4-related X-linked intellectual disability syndromeHP:0040283 - Occasional45
HP:0004305HP:0002072Chorea1CLCN4 CL E G H11832022ORPHA:485350CLCN4-related X-linked intellectual disability syndromeHP:0040284 - Very rare45
HP:0004305HP:0001337Tremor1CLCN7 CL E G H11862025ORPHA:667Autosomal recessive malignant osteopetrosisHP:0040281 - Very frequent102
HP:0004305HP:0001337Tremor1CLIP2 CL E G H74612586ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0004305HP:0001336Myoclonus1CLN3 CL E G H12012074OMIM:204200Ceroid lipofuscinosis, neuronal, 3.216
HP:0004305HP:0001336Myoclonus1CLN5 CL E G H12032076OMIM:256731Ceroid lipofuscinosis, neuronal, 5.141
HP:0004305HP:0001337Tremor1CLN5 CL E G H12032076ORPHA:228360CLN5 diseaseHP:0040283 - Occasional141
HP:0004305HP:0001336Myoclonus1CLN6 CL E G H549822077OMIM:204300Ceroid lipofuscinosis, neuronal, 4A, autosomal recessive.143
HP:0004305HP:0001336Myoclonus1CLN8 CL E G H20552079OMIM:600143Ceroid lipofuscinosis, neuronal, 8.111
HP:0004305HP:0001336Myoclonus1CLPB CL E G H8157030664ORPHA:4450383-methylglutaconic aciduria type 7HP:0040282 - Frequent38
HP:0004305HP:0002072Chorea1CLPB CL E G H8157030664ORPHA:4450383-methylglutaconic aciduria type 738
HP:0004305HP:0002305Athetosis1CLPB CL E G H8157030664ORPHA:4450383-methylglutaconic aciduria type 738
HP:0004305HP:0001336Myoclonus1CLPB CL E G H8157030664OMIM:6162713-Methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia38
HP:0004305HP:0001337Tremor1CLPB CL E G H8157030664OMIM:6162713-Methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia38
HP:0004305HP:0002072Chorea1CLPB CL E G H8157030664OMIM:6162713-Methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia38
HP:0004305HP:0002305Athetosis1CLPB CL E G H8157030664OMIM:6162713-Methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia38
HP:0004305HP:0001336Myoclonus1CLTC CL E G H12132092OMIM:617854Mental retardation, autosomal dominant 561
HP:0004305HP:0001336Myoclonus1CLTC CL E G H12132092ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional1
HP:0004305HP:0001337Tremor1CLTC CL E G H12132092ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional1
HP:0004305HP:0001336Myoclonus1CNKSR2 CL E G H2286619701ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional18
HP:0004305HP:0001337Tremor1CNKSR2 CL E G H2286619701ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional18
HP:0004305HP:0001336Myoclonus1CNPY3 CL E G H1069511968ORPHA:3451Infantile spasms syndromeHP:0040281 - Very frequent
HP:0004305HP:0001336Myoclonus1CNTN2 CL E G H69002172ORPHA:86814Benign adult familial myoclonic epilepsyHP:0040281 - Very frequent9
HP:0004305HP:0001337Tremor1CNTN2 CL E G H69002172ORPHA:86814Benign adult familial myoclonic epilepsy9
HP:0004305HP:0001337Tremor1CNTN2 CL E G H69002172OMIM:615400Epilepsy, familial adult myoclonic, 5.9
HP:0004305HP:0000733Motor stereotypy1CNTNAP2 CL E G H2604713830ORPHA:163681CNTNAP2-related developmental and epileptic encephalopathy518
HP:0004305HP:0000733Motor stereotypy1CNTNAP2 CL E G H2604713830OMIM:610042Pitt-Hopkins-Like syndrome 1.518
HP:0004305HP:0001337Tremor1COA7 CL E G H6526025716OMIM:618387Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3.
HP:0004305HP:0001336Myoclonus1COG8 CL E G H8434218623ORPHA:95428COG8-CDGHP:0040283 - Occasional39
HP:0004305HP:0002380Fasciculations1COL25A1 CL E G H8457018603ORPHA:1143Neurogenic arthrogryposis multiplex congenitaHP:0040283 - Occasional3
HP:0004305HP:0001337Tremor1COL6A3 CL E G H12932213OMIM:616411Dystonia 27702
HP:0004305HP:0001337Tremor1COL6A3 CL E G H12932213ORPHA:464440Primary dystonia, DYT27 type702
HP:0004305HP:0001336Myoclonus1COQ2 CL E G H2723525223OMIM:607426Coenzyme Q10 deficiency, primary, 154
HP:0004305HP:0001337Tremor1COQ2 CL E G H2723525223OMIM:607426Coenzyme Q10 deficiency, primary, 154
HP:0004305HP:0001337Tremor1COQ2 CL E G H2723525223OMIM:146500Multiple system atrophy 1, susceptibility to.54
HP:0004305HP:0001337Tremor1COQ2 CL E G H2723525223ORPHA:227510Multiple system atrophy, cerebellar type54
HP:0004305HP:0001337Tremor1COQ2 CL E G H2723525223ORPHA:98933Multiple system atrophy, parkinsonian type54
HP:0004305HP:0001336Myoclonus1COQ5 CL E G H8427428722OMIM:619028COENZYME Q10 DEFICIENCY, PRIMARY, 9; COQ10D9
HP:0004305HP:0001337Tremor1COQ5 CL E G H8427428722OMIM:619028COENZYME Q10 DEFICIENCY, PRIMARY, 9; COQ10D9
HP:0004305HP:0001336Myoclonus1COQ8A CL E G H5699716812ORPHA:139485Autosomal recessive ataxia due to ubiquinone deficiencyHP:0040283 - Occasional136
HP:0004305HP:0001337Tremor1COQ8A CL E G H5699716812ORPHA:139485Autosomal recessive ataxia due to ubiquinone deficiencyHP:0040283 - Occasional136
HP:0004305HP:0001336Myoclonus1COQ8A CL E G H5699716812OMIM:612016Coenzyme Q10 deficiency, primary, 4HP:0040283 - Occasional136
HP:0004305HP:0001337Tremor1COQ8A CL E G H5699716812OMIM:612016Coenzyme Q10 deficiency, primary, 4HP:0040283 - Occasional136
HP:0004305HP:0001337Tremor1COX1 CL E G H45127419ORPHA:104Leber hereditary optic neuropathy
HP:0004305HP:0001336Myoclonus1COX1 CL E G H45127419ORPHA:550MELASHP:0040282 - Frequent
HP:0004305HP:0001336Myoclonus1COX2 CL E G H45137421ORPHA:550MELASHP:0040282 - Frequent
HP:0004305HP:0002072Chorea1COX20 CL E G H11622826970OMIM:619054MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 11; MC4DN1125
HP:0004305HP:0002305Athetosis1COX20 CL E G H11622826970OMIM:619054MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 11; MC4DN1125
HP:0004305HP:0001337Tremor1COX3 CL E G H45147422ORPHA:104Leber hereditary optic neuropathy
HP:0004305HP:0001337Tremor1COX3 CL E G H45147422OMIM:535000Leber optic atrophy
HP:0004305HP:0001336Myoclonus1COX3 CL E G H45147422ORPHA:550MELASHP:0040282 - Frequent
HP:0004305HP:0001336Myoclonus1COX4I1 CL E G H13272265OMIM:619060MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 16; MC4DN16
HP:0004305HP:0001337Tremor1CP CL E G H13562295ORPHA:48818AceruloplasminemiaHP:0040283 - Occasional115
HP:0004305HP:0002072Chorea1CP CL E G H13562295ORPHA:48818AceruloplasminemiaHP:0040282 - Frequent115
HP:0004305HP:0002072Chorea1CP CL E G H13562295OMIM:604290ACERULOPLASMINEMIA.115
HP:0004305HP:0001337Tremor1CPLANE1 CL E G H6525025801ORPHA:475Joubert syndromeHP:0040283 - Occasional
HP:0004305HP:0001337Tremor1CPLANE1 CL E G H6525025801ORPHA:65684Monomelic amyotrophyHP:0040283 - Occasional
HP:0004305HP:0002380Fasciculations1CPLANE1 CL E G H6525025801ORPHA:65684Monomelic amyotrophyHP:0040283 - Occasional
HP:0004305HP:0001337Tremor1CPLANE1 CL E G H6525025801ORPHA:2754Orofaciodigital syndrome type 6HP:0040283 - Occasional
HP:0004305HP:0001336Myoclonus1CPLX1 CL E G H108152309ORPHA:352582Familial infantile myoclonic epilepsy1
HP:0004305HP:0000733Motor stereotypy1CPLX1 CL E G H108152309OMIM:194190Wolf-Hirschhorn syndrome1
HP:0004305HP:0001337Tremor1CRAT CL E G H13842342OMIM:617917Neurodegeneration with brain iron accumulation 8.
HP:0004305HP:0000733Motor stereotypy1CRB1 CL E G H234182343OMIM:613835Leber congenital amaurosis 8156
HP:0004305HP:0000733Motor stereotypy1CREBBP CL E G H13872348ORPHA:353281Rubinstein-Taybi syndrome due to 16p13.3 microdeletionHP:0040282 - Frequent291
HP:0004305HP:0000733Motor stereotypy1CREBBP CL E G H13872348ORPHA:353277Rubinstein-Taybi syndrome due to CREBBP mutationsHP:0040282 - Frequent291
HP:0004305HP:0000733Motor stereotypy1CRH CL E G H13922355ORPHA:98784Autosomal dominant nocturnal frontal lobe epilepsyHP:0040282 - Frequent1
HP:0004305HP:0100033Tics1CRKL CL E G H13992363ORPHA:261330Distal 22q11.2 microdeletion syndromeHP:0040283 - Occasional
HP:0004305HP:0001337Tremor1CSPP1 CL E G H7984826193ORPHA:475Joubert syndromeHP:0040283 - Occasional57
HP:0004305HP:0001336Myoclonus1CSTB CL E G H14762482OMIM:254800Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg)51
HP:0004305HP:0001336Myoclonus1CSTB CL E G H14762482ORPHA:308Progressive myoclonic epilepsy type 1HP:0040281 - Very frequent51
HP:0004305HP:0001337Tremor1CSTB CL E G H14762482ORPHA:308Progressive myoclonic epilepsy type 151
HP:0004305HP:0000733Motor stereotypy1CTBP1 CL E G H14872494OMIM:194190Wolf-Hirschhorn syndrome2
HP:0004305HP:0001337Tremor1CTC1 CL E G H8016926169OMIM:612199Cerebroretinal microangiopathy with calcifications and cysts.160
HP:0004305HP:0002072Chorea1CTDP1 CL E G H91502498OMIM:604168Congenital cataracts, facial dysmorphism, and neuropathy.17
HP:0004305HP:0001337Tremor1CTDP1 CL E G H91502498ORPHA:48431Congenital cataracts-facial dysmorphism-neuropathy syndrome17
HP:0004305HP:0001337Tremor1CTH CL E G H14912501ORPHA:212CystathioninuriaHP:0040283 - Occasional38
HP:0004305HP:0001337Tremor1CTLA4 CL E G H14932505ORPHA:3162Sézary syndromeHP:0040283 - Occasional10
HP:0004305HP:0001336Myoclonus1CTNND2 CL E G H15012516ORPHA:86814Benign adult familial myoclonic epilepsyHP:0040281 - Very frequent15
HP:0004305HP:0001337Tremor1CTNND2 CL E G H15012516ORPHA:86814Benign adult familial myoclonic epilepsy15
HP:0004305HP:0001336Myoclonus1CTSF CL E G H87222531OMIM:615362Ceroid lipofuscinosis, neuronal, 13.20
HP:0004305HP:0001337Tremor1CTSF CL E G H87222531OMIM:615362Ceroid lipofuscinosis, neuronal, 13.20
HP:0004305HP:0001337Tremor1CUL4B CL E G H84502555OMIM:300354Mental retardation, X-linked, syndromic, Cabezas type38
HP:0004305HP:0001337Tremor1CUL4B CL E G H84502555ORPHA:85293X-linked intellectual disability, Cabezas typeHP:0040282 - Frequent38
HP:0004305HP:0002305Athetosis1CUX2 CL E G H2331619347OMIM:618141Epileptic encephalopathy, early infantile, 67.
HP:0004305HP:0001336Myoclonus1CUX2 CL E G H2331619347ORPHA:2382Lennox-Gastaut syndromeHP:0040282 - Frequent
HP:0004305HP:0001337Tremor1CWF19L1 CL E G H5528025613ORPHA:453521Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency9
HP:0004305HP:0001337Tremor1CWF19L1 CL E G H5528025613OMIM:616127Spinocerebellar ataxia, autosomal recessive 17.9
HP:0004305HP:0002305Athetosis1CYB5A CL E G H15282570ORPHA:621Hereditary methemoglobinemiaHP:0040283 - Occasional2
HP:0004305HP:0002305Athetosis1CYB5R3 CL E G H17272873ORPHA:621Hereditary methemoglobinemiaHP:0040283 - Occasional24
HP:0004305HP:0001336Myoclonus1CYFIP2 CL E G H2699913760ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional1
HP:0004305HP:0001337Tremor1CYFIP2 CL E G H2699913760ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional1
HP:0004305HP:0001336Myoclonus1CYP27A1 CL E G H15932605ORPHA:909Cerebrotendinous xanthomatosis114
HP:0004305HP:0001337Tremor1CYP27A1 CL E G H15932605ORPHA:909Cerebrotendinous xanthomatosis114
HP:0004305HP:0002169Clonus1CYP27A1 CL E G H15932605OMIM:213700Cerebrotendinous xanthomatosis114
HP:0004305HP:0002169Clonus1CYP7B1 CL E G H94202652ORPHA:100986Autosomal recessive spastic paraplegia type 5A57
HP:0004305HP:0001337Tremor1CYP7B1 CL E G H94202652OMIM:270800Spastic paraplegia 5A, autosomal recessive57
HP:0004305HP:0001337Tremor1CYTB CL E G H45197427ORPHA:104Leber hereditary optic neuropathy
HP:0004305HP:0001337Tremor1CYTB CL E G H45197427OMIM:535000Leber optic atrophy
HP:0004305HP:0001337Tremor1DAB1 CL E G H16002661OMIM:615945Spinocerebellar ataxia 37HP:0040283 - Occasional4
HP:0004305HP:0001336Myoclonus1DAB1 CL E G H16002661ORPHA:363710Spinocerebellar ataxia type 37HP:0040282 - Frequent4
HP:0004305HP:0001337Tremor1DAB1 CL E G H16002661ORPHA:363710Spinocerebellar ataxia type 37HP:0040282 - Frequent4
HP:0004305HP:0001336Myoclonus1DALRD3 CL E G H5515225536ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional
HP:0004305HP:0001337Tremor1DALRD3 CL E G H5515225536ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional
HP:0004305HP:0001337Tremor1DARS2 CL E G H5515725538ORPHA:137898Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndromeHP:0040282 - Frequent60
HP:0004305HP:0001337Tremor1DARS2 CL E G H5515725538OMIM:611105Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation.60
HP:0004305HP:0002072Chorea1DCAF17 CL E G H8006725784OMIM:241080Woodhouse-Sakati syndrome87
HP:0004305HP:0002072Chorea1DCAF17 CL E G H8006725784ORPHA:3464Woodhouse-Sakati syndrome87
HP:0004305HP:0002305Athetosis1DCAF17 CL E G H8006725784OMIM:241080Woodhouse-Sakati syndrome87
HP:0004305HP:0002305Athetosis1DCAF17 CL E G H8006725784ORPHA:3464Woodhouse-Sakati syndrome87
HP:0004305HP:0001337Tremor1DCC CL E G H16302701ORPHA:478Kallmann syndromeHP:0040283 - Occasional36
HP:0004305HP:0002380Fasciculations1DCTN1 CL E G H16392711OMIM:105400Amyotrophic lateral sclerosis 1.86
HP:0004305HP:0001337Tremor1DCTN1 CL E G H16392711ORPHA:178509Perry syndromeHP:0040281 - Very frequent86
HP:0004305HP:0001337Tremor1DCTN1 CL E G H16392711OMIM:168605Perry syndrome86
HP:0004305HP:0000733Motor stereotypy1DDC CL E G H16442719OMIM:608643Aromatic L-amino acid decarboxylase deficiency43
HP:0004305HP:0001336Myoclonus1DDC CL E G H16442719OMIM:608643Aromatic L-amino acid decarboxylase deficiency43
HP:0004305HP:0001337Tremor1DDC CL E G H16442719OMIM:608643Aromatic L-amino acid decarboxylase deficiency43
HP:0004305HP:0002072Chorea1DDC CL E G H16442719OMIM:608643Aromatic L-amino acid decarboxylase deficiency43
HP:0004305HP:0002305Athetosis1DDC CL E G H16442719OMIM:608643Aromatic L-amino acid decarboxylase deficiency43
HP:0004305HP:0001337Tremor1DDOST CL E G H16502728ORPHA:300536DDOST-CDGHP:0040281 - Very frequent62
HP:0004305HP:0000733Motor stereotypy1DDX6 CL E G H16562747OMIM:618653INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES; IDDILF
HP:0004305HP:0000733Motor stereotypy1DEAF1 CL E G H1052214677ORPHA:819Smith-Magenis syndromeHP:0040281 - Very frequent33
HP:0004305HP:0001336Myoclonus1DENND5A CL E G H2325819344OMIM:617281Epileptic encephalopathy, early infantile, 49.6
HP:0004305HP:0000733Motor stereotypy1DEPDC5 CL E G H968118423ORPHA:98784Autosomal dominant nocturnal frontal lobe epilepsyHP:0040282 - Frequent172
HP:0004305HP:0001337Tremor1DHDDS CL E G H7994720603OMIM:617836Developmental delay and seizures with or without movement abnormalities47
HP:0004305HP:0001336Myoclonus1DHDDS CL E G H7994720603ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional47
HP:0004305HP:0001337Tremor1DHDDS CL E G H7994720603ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional47
HP:0004305HP:0001336Myoclonus1DHFR CL E G H17192861OMIM:613839Megaloblastic anemia due to dihydrofolate reductase deficiency7
HP:0004305HP:0000733Motor stereotypy1DHPS CL E G H17252869OMIM:618480Neurodevelopmental disorder with seizures and speech and walking impairment
HP:0004305HP:0002072Chorea1DHX30 CL E G H2290716716OMIM:617804Neurodevelopmental disorder with severe motor impairment and absent language.4
HP:0004305HP:0002072Chorea1DLAT CL E G H17372896OMIM:245348Pyruvate dehydrogenase E2 deficiency82
HP:0004305HP:0002305Athetosis1DLAT CL E G H17372896OMIM:245348Pyruvate dehydrogenase E2 deficiency82
HP:0004305HP:0000733Motor stereotypy1DLL1 CL E G H285142908OMIM:618709NEURODEVELOPMENTAL DISORDER WITH NONSPECIFIC BRAIN ABNORMALITIES AND WITH OR WITHOUT SEIZURES; NEDBAS3
HP:0004305HP:0001337Tremor1DLST CL E G H17432911ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040283 - Occasional
HP:0004305HP:0001336Myoclonus1DMXL2 CL E G H233122938ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional3
HP:0004305HP:0001337Tremor1DMXL2 CL E G H233122938ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional3
HP:0004305HP:0002072Chorea1DMXL2 CL E G H233122938ORPHA:1934Early infantile epileptic encephalopathy3
HP:0004305HP:0002305Athetosis1DMXL2 CL E G H233122938ORPHA:1934Early infantile epileptic encephalopathy3
HP:0004305HP:0001337Tremor1DNAJC13 CL E G H2331730343ORPHA:411602Hereditary late-onset Parkinson disease2
HP:0004305HP:0000733Motor stereotypy1DNAJC19 CL E G H13111830528ORPHA:66634Dilated cardiomyopathy with ataxia25
HP:0004305HP:0001337Tremor1DNAJC19 CL E G H13111830528ORPHA:66634Dilated cardiomyopathy with ataxia25
HP:0004305HP:0001337Tremor1DNAJC30 CL E G H8427716410ORPHA:104Leber hereditary optic neuropathy
HP:0004305HP:0001337Tremor1DNAJC30 CL E G H8427716410ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0004305HP:0001336Myoclonus1DNAJC5 CL E G H8033116235OMIM:162350Ceroid lipofuscinosis, neuronal, 4B, autosomal dominant.155
HP:0004305HP:0001336Myoclonus1DNAJC6 CL E G H982915469ORPHA:391411Atypical juvenile parkinsonismHP:0040283 - Occasional6
HP:0004305HP:0001337Tremor1DNAJC6 CL E G H982915469ORPHA:391411Atypical juvenile parkinsonism6
HP:0004305HP:0001337Tremor1DNAJC6 CL E G H982915469OMIM:615528Parkinson disease 19a, juvenile-onset.6
HP:0004305HP:0001337Tremor1DNAJC6 CL E G H982915469ORPHA:2828Young-onset Parkinson diseaseHP:0040282 - Frequent6
HP:0004305HP:0001336Myoclonus1DNM1 CL E G H17592972ORPHA:2382Lennox-Gastaut syndromeHP:0040282 - Frequent72
HP:0004305HP:0001336Myoclonus1DNM1 CL E G H17592972ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional72
HP:0004305HP:0001337Tremor1DNM1 CL E G H17592972ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional72
HP:0004305HP:0001337Tremor1DNM1L CL E G H100592973ORPHA:330050DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defectHP:0040283 - Occasional94
HP:0004305HP:0002305Athetosis1DNM1L CL E G H100592973OMIM:614388Encephalopathy due to defective mitochondrial and peroxisomal fission 194
HP:0004305HP:0001337Tremor1DNMT1 CL E G H17862976ORPHA:314404Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome145
HP:0004305HP:0001337Tremor1DNMT3A CL E G H17882978ORPHA:276621Sporadic pheochromocytoma/secreting paragangliomaHP:0040283 - Occasional44
HP:0004305HP:0000733Motor stereotypy1DOCK7 CL E G H8544019190ORPHA:411986Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndromeHP:0040283 - Occasional11
HP:0004305HP:0001336Myoclonus1DOCK7 CL E G H8544019190ORPHA:411986Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndromeHP:0040283 - Occasional11
HP:0004305HP:0001337Tremor1DPAGT1 CL E G H17982995OMIM:608093Congenital disorder of glycosylation, type IjHP:0040283 - Occasional38
HP:0004305HP:0000733Motor stereotypy1DPAGT1 CL E G H17982995ORPHA:86309DPAGT1-CDG38
HP:0004305HP:0001337Tremor1DPAGT1 CL E G H17982995ORPHA:86309DPAGT1-CDGHP:0040284 - Very rare38
HP:0004305HP:0000733Motor stereotypy1DPF2 CL E G H59779964OMIM:618027Coffin-Siris syndrome 7
HP:0004305HP:0001337Tremor1DPM1 CL E G H88133005OMIM:608799Congenital disorder of glycosylation, type IE.27
HP:0004305HP:0000733Motor stereotypy1DPYSL5 CL E G H5689620637OMIM:619435RITSCHER-SCHINZEL SYNDROME 4; RTSC4
HP:0004305HP:0002072Chorea1DPYSL5 CL E G H5689620637OMIM:619435RITSCHER-SCHINZEL SYNDROME 4; RTSC4
HP:0004305HP:0002305Athetosis1DPYSL5 CL E G H5689620637OMIM:619435RITSCHER-SCHINZEL SYNDROME 4; RTSC4
HP:0004305HP:0001336Myoclonus1DRD2 CL E G H18133023ORPHA:36899Myoclonus-dystonia syndromeHP:0040281 - Very frequent16
HP:0004305HP:0001337Tremor1DRD3 CL E G H18143024OMIM:190300Tremor, hereditary essential, 121
HP:0004305HP:0001336Myoclonus1DTYMK CL E G H18413061OMIM:619847
HP:0004305HP:0002169Clonus1DTYMK CL E G H18413061OMIM:619847
HP:0004305HP:0001337Tremor1DUSP6 CL E G H18483072ORPHA:478Kallmann syndromeHP:0040283 - Occasional4
HP:0004305HP:0000733Motor stereotypy1DYRK1A CL E G H18593091ORPHA:268261DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion134
HP:0004305HP:0000733Motor stereotypy1DYRK1A CL E G H18593091ORPHA:464311Intellectual disability syndrome due to a DYRK1A point mutationHP:0040282 - Frequent134
HP:0004305HP:0000733Motor stereotypy1DYRK1A CL E G H18593091OMIM:614104Mental retardation, autosomal dominant 7134
HP:0004305HP:0002072Chorea1DYSF CL E G H82913097ORPHA:268Dysferlin-related limb-girdle muscular dystrophy R2HP:0040284 - Very rare600
HP:0004305HP:0000733Motor stereotypy1EBF3 CL E G H25373819087OMIM:617330HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS25
HP:0004305HP:0000733Motor stereotypy1EEF1A2 CL E G H19173192OMIM:616393Mental retardation, autosomal dominant 3860
HP:0004305HP:0001336Myoclonus1EEF1A2 CL E G H19173192ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional60
HP:0004305HP:0001337Tremor1EEF1A2 CL E G H19173192ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional60
HP:0004305HP:0001336Myoclonus1EFHC1 CL E G H11432716406ORPHA:1941Juvenile absence epilepsyHP:0040284 - Very rare153
HP:0004305HP:0001336Myoclonus1EFHC1 CL E G H11432716406ORPHA:307Juvenile myoclonic epilepsy153
HP:0004305HP:0001336Myoclonus1EFHC1 CL E G H11432716406OMIM:254770Myoclonic epilepsy, juvenile, susceptibility to, 1153
HP:0004305HP:0002380Fasciculations1EGR2 CL E G H19593239OMIM:145900Hypertrophic neuropathy of dejerine-sottas58
HP:0004305HP:0000733Motor stereotypy1EHMT1 CL E G H7981324650OMIM:610253Kleefstra syndrome223
HP:0004305HP:0001336Myoclonus1EIF2AK2 CL E G H56109437OMIM:618877LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME; LEUDEN
HP:0004305HP:0001337Tremor1EIF2AK2 CL E G H56109437OMIM:618877LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME; LEUDEN
HP:0004305HP:0100248Hemiballismus1EIF2AK2 CL E G H56109437OMIM:618877LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME; LEUDEN
HP:0004305HP:0002072Chorea1EIF2AK2 CL E G H56109437OMIM:618877LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME; LEUDEN
HP:0004305HP:0002305Athetosis1EIF2AK2 CL E G H56109437OMIM:618877LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME; LEUDEN
HP:0004305HP:0001337Tremor1EIF4G1 CL E G H19813296ORPHA:411602Hereditary late-onset Parkinson disease2
HP:0004305HP:0001337Tremor1EIF4G1 CL E G H19813296OMIM:614251Parkinson disease 182
HP:0004305HP:0001337Tremor1EIF4H CL E G H745812741ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0004305HP:0001337Tremor1ELN CL E G H20063327ORPHA:904Williams syndromeHP:0040281 - Very frequent172
HP:0004305HP:0001337Tremor1ELOVL1 CL E G H6483414418OMIM:618527Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features
HP:0004305HP:0001337Tremor1ELOVL4 CL E G H678514415OMIM:133190Spinocerebellar ataxia 3462
HP:0004305HP:0002380Fasciculations1ELOVL4 CL E G H678514415OMIM:133190Spinocerebellar ataxia 34HP:0040283 - Occasional62
HP:0004305HP:0001337Tremor1ELOVL5 CL E G H6048121308ORPHA:423296Spinocerebellar ataxia type 38HP:0040284 - Very rare4
HP:0004305HP:0000733Motor stereotypy1ELP2 CL E G H5525018248OMIM:617270Mental retardation, autosomal recessive 586
HP:0004305HP:0002072Chorea1ELP2 CL E G H5525018248OMIM:617270Mental retardation, autosomal recessive 586
HP:0004305HP:0002305Athetosis1ELP2 CL E G H5525018248OMIM:617270Mental retardation, autosomal recessive 586
HP:0004305HP:0100033Tics1EMC10 CL E G H28436127609OMIM:619264NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND VARIABLE SEIZURES; NEDDFAS
HP:0004305HP:0002169Clonus1EMILIN1 CL E G H1111719880OMIM:6200802
HP:0004305HP:0000733Motor stereotypy1EP300 CL E G H20333373ORPHA:353284Rubinstein-Taybi syndrome due to EP300 haploinsufficiencyHP:0040282 - Frequent250
HP:0004305HP:0001337Tremor1EPAS1 CL E G H20343374ORPHA:276621Sporadic pheochromocytoma/secreting paragangliomaHP:0040283 - Occasional112
HP:0004305HP:0001336Myoclonus1EPM2A CL E G H79573413ORPHA:501Lafora diseaseHP:0040283 - Occasional83
HP:0004305HP:0001336Myoclonus1EPM2A CL E G H79573413OMIM:254780Myoclonic epilepsy of lafora.83
HP:0004305HP:0001337Tremor1EPRS1 CL E G H20583418OMIM:617951Leukodystrophy, hypomyelinating, 15
HP:0004305HP:0002305Athetosis1EPRS1 CL E G H20583418OMIM:617951Leukodystrophy, hypomyelinating, 15.
HP:0004305HP:0001337Tremor1ERCC2 CL E G H20683434ORPHA:33364Trichothiodystrophy106
HP:0004305HP:0002072Chorea1ERCC2 CL E G H20683434OMIM:278730Xeroderma pigmentosum, complementation group D106
HP:0004305HP:0002305Athetosis1ERCC2 CL E G H20683434OMIM:278730Xeroderma pigmentosum, complementation group D106
HP:0004305HP:0001337Tremor1ERCC3 CL E G H20713435ORPHA:33364Trichothiodystrophy54
HP:0004305HP:0001337Tremor1ERCC4 CL E G H20723436ORPHA:90321Cockayne syndrome type 1HP:0040282 - Frequent158
HP:0004305HP:0001337Tremor1ERCC4 CL E G H20723436OMIM:278760Xeroderma pigmentosum, complementation group FHP:0040283 - Occasional158
HP:0004305HP:0001337Tremor1ERCC5 CL E G H20733437OMIM:278780Xeroderma pigmentosum, complementation group GHP:0040283 - Occasional83
HP:0004305HP:0001337Tremor1ERCC6 CL E G H20743438ORPHA:90321Cockayne syndrome type 1HP:0040282 - Frequent199
HP:0004305HP:0001337Tremor1ERCC6 CL E G H20743438ORPHA:90324Cockayne syndrome type 3199
HP:0004305HP:0001337Tremor1ERCC6 CL E G H20743438OMIM:133540Cockayne syndrome, type B.199
HP:0004305HP:0002072Chorea1ERCC6 CL E G H20743438OMIM:278800De Sanctis-Cacchione syndrome199
HP:0004305HP:0002305Athetosis1ERCC6 CL E G H20743438OMIM:278800De Sanctis-Cacchione syndrome199
HP:0004305HP:0001337Tremor1ERCC8 CL E G H11613439OMIM:216400Cockayne syndrome A.55
HP:0004305HP:0001337Tremor1ERCC8 CL E G H11613439ORPHA:90321Cockayne syndrome type 1HP:0040282 - Frequent55
HP:0004305HP:0001337Tremor1ERCC8 CL E G H11613439ORPHA:90324Cockayne syndrome type 355
HP:0004305HP:0002380Fasciculations1ERGIC1 CL E G H5722229205ORPHA:1143Neurogenic arthrogryposis multiplex congenitaHP:0040283 - Occasional
HP:0004305HP:0002169Clonus1ERLIN1 CL E G H1061316947ORPHA:401785Autosomal recessive spastic paraplegia type 62HP:0040283 - Occasional2
HP:0004305HP:0002169Clonus1ERLIN1 CL E G H1061316947OMIM:615681Spastic paraplegia 62, autosomal recessive.2
HP:0004305HP:0001337Tremor1ERLIN2 CL E G H111601356ORPHA:209951Autosomal recessive spastic paraplegia type 1818
HP:0004305HP:0002169Clonus1ERLIN2 CL E G H111601356ORPHA:209951Autosomal recessive spastic paraplegia type 1818
HP:0004305HP:0001337Tremor1ERLIN2 CL E G H111601356ORPHA:280384Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome18
HP:0004305HP:0002169Clonus1ERLIN2 CL E G H111601356ORPHA:280384Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome18
HP:0004305HP:0002380Fasciculations1EXOSC3 CL E G H5101017944ORPHA:2254Pontocerebellar hypoplasia type 138
HP:0004305HP:0002380Fasciculations1EXOSC3 CL E G H5101017944OMIM:614678Pontocerebellar hypoplasia, type 1B38
HP:0004305HP:0002380Fasciculations1EXOSC8 CL E G H1134017035ORPHA:2254Pontocerebellar hypoplasia type 14
HP:0004305HP:0002380Fasciculations1EXOSC8 CL E G H1134017035OMIM:616081Pontocerebellar hypoplasia, type 1C4
HP:0004305HP:0002380Fasciculations1EXOSC9 CL E G H53939137ORPHA:2254Pontocerebellar hypoplasia type 1
HP:0004305HP:0002380Fasciculations1EXOSC9 CL E G H53939137OMIM:618065Pontocerebellar hypoplasia, type 1D.
HP:0004305HP:0000733Motor stereotypy1EXT2 CL E G H21323513OMIM:616682Seizures, scoliosis, and macrocephaly/microcephaly syndrome.102
HP:0004305HP:0000733Motor stereotypy1EXTL3 CL E G H21373518ORPHA:508533Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndromeHP:0040283 - Occasional3
HP:0004305HP:0002169Clonus1FA2H CL E G H7915221197ORPHA:171629Autosomal recessive spastic paraplegia type 3576
HP:0004305HP:0002169Clonus1FA2H CL E G H7915221197OMIM:612319Spastic paraplegia 35, autosomal recessive76
HP:0004305HP:0001337Tremor1FAM149B1 CL E G H31766229162ORPHA:2754Orofaciodigital syndrome type 6HP:0040283 - Occasional
HP:0004305HP:0001337Tremor1FAR1 CL E G H8418826222ORPHA:447753Autosomal dominant spastic paraplegia type 9AHP:0040283 - Occasional7
HP:0004305HP:0001336Myoclonus1FARS2 CL E G H1066721062ORPHA:466722Autosomal recessive spastic paraplegia type 77HP:0040283 - Occasional36
HP:0004305HP:0001337Tremor1FARS2 CL E G H1066721062ORPHA:466722Autosomal recessive spastic paraplegia type 7736
HP:0004305HP:0001336Myoclonus1FARS2 CL E G H1066721062OMIM:614946Combined oxidative phosphorylation deficiency 14.36
HP:0004305HP:0002072Chorea1FBXL4 CL E G H2623513601OMIM:615471Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)384
HP:0004305HP:0002305Athetosis1FBXL4 CL E G H2623513601OMIM:615471Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)384
HP:0004305HP:0000733Motor stereotypy1FBXO28 CL E G H2321929046OMIM:619777DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100
HP:0004305HP:0001336Myoclonus1FBXO28 CL E G H2321929046OMIM:619777DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100
HP:0004305HP:0002072Chorea1FBXO28 CL E G H2321929046OMIM:619777DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100
HP:0004305HP:0002305Athetosis1FBXO28 CL E G H2321929046OMIM:619777DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100
HP:0004305HP:0002380Fasciculations1FBXO38 CL E G H8154528844OMIM:615575Neuronopathy, distal hereditary motor, type IID1
HP:0004305HP:0001337Tremor1FBXO7 CL E G H2579313586OMIM:260300Parkinson disease 15, autosomal recessive early-onset.36
HP:0004305HP:0001336Myoclonus1FBXO7 CL E G H2579313586ORPHA:171695Parkinsonian-pyramidal syndromeHP:0040282 - Frequent36
HP:0004305HP:0001337Tremor1FBXO7 CL E G H2579313586ORPHA:171695Parkinsonian-pyramidal syndrome36
HP:0004305HP:0000733Motor stereotypy1FBXW11 CL E G H2329113607OMIM:618914NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME; NEDJED
HP:0004305HP:0001337Tremor1FEZF1 CL E G H38954922788ORPHA:478Kallmann syndromeHP:0040283 - Occasional2
HP:0004305HP:0001336Myoclonus1FGF12 CL E G H22573668ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional3
HP:0004305HP:0001337Tremor1FGF12 CL E G H22573668ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional3
HP:0004305HP:0002169Clonus1FGF13 CL E G H22583670OMIM:301058DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 90; DEE901
HP:0004305HP:0001336Myoclonus1FGF13 CL E G H22583670ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional1
HP:0004305HP:0001337Tremor1FGF13 CL E G H22583670ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional1
HP:0004305HP:0001337Tremor1FGF14 CL E G H22593671OMIM:193003Nystagmus 4, congenital, autosomal dominant47
HP:0004305HP:0001337Tremor1FGF14 CL E G H22593671ORPHA:98764Spinocerebellar ataxia type 27HP:0040281 - Very frequent47
HP:0004305HP:0001337Tremor1FGF17 CL E G H88223673ORPHA:478Kallmann syndromeHP:0040283 - Occasional3
HP:0004305HP:0001337Tremor1FGF8 CL E G H22533686ORPHA:478Kallmann syndromeHP:0040283 - Occasional17
HP:0004305HP:0001337Tremor1FGFR1 CL E G H22603688ORPHA:478Kallmann syndromeHP:0040283 - Occasional172
HP:0004305HP:0000733Motor stereotypy1FGFRL1 CL E G H538343693OMIM:194190Wolf-Hirschhorn syndrome
HP:0004305HP:0001337Tremor1FH CL E G H22713700ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040283 - Occasional301
HP:0004305HP:0001337Tremor1FKBP6 CL E G H84683722ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0004305HP:0002169Clonus1FKRP CL E G H7914717997ORPHA:370959Congenital muscular dystrophy with cerebellar involvementHP:0040283 - Occasional157
HP:0004305HP:0000733Motor stereotypy1FLCN CL E G H20116327310OMIM:610883Potocki-Lupski syndrome332
HP:0004305HP:0000733Motor stereotypy1FLII CL E G H23143750ORPHA:819Smith-Magenis syndromeHP:0040281 - Very frequent
HP:0004305HP:0001337Tremor1FLRT3 CL E G H237673762ORPHA:478Kallmann syndromeHP:0040283 - Occasional4
HP:0004305HP:0001337Tremor1FLVCR1 CL E G H2898224682ORPHA:88628Posterior column ataxia-retinitis pigmentosa syndrome111
HP:0004305HP:0000733Motor stereotypy1FMR1 CL E G H23323775OMIM:300624Fragile X mental retardation syndrome30
HP:0004305HP:0001337Tremor1FMR1 CL E G H23323775OMIM:300623Fragile X tremor/ataxia syndrome30
HP:0004305HP:0001337Tremor1FMR1 CL E G H23323775ORPHA:93256Fragile X-associated tremor/ataxia syndrome30
HP:0004305HP:0000733Motor stereotypy1FMR1 CL E G H23323775ORPHA:449291Symptomatic form of fragile X syndrome in female carriersHP:0040284 - Very rare30
HP:0004305HP:0000733Motor stereotypy1FOXG1 CL E G H22903811ORPHA:261144FOXG1 syndrome due to 14q12 microdeletionHP:0040281 - Very frequent177
HP:0004305HP:0000733Motor stereotypy1FOXG1 CL E G H22903811OMIM:613454Rett syndrome, congenital variant177
HP:0004305HP:0002072Chorea1FOXG1 CL E G H22903811OMIM:613454Rett syndrome, congenital variant.177
HP:0004305HP:0002305Athetosis1FOXG1 CL E G H22903811OMIM:613454Rett syndrome, congenital variant.177
HP:0004305HP:0000733Motor stereotypy1FOXP1 CL E G H270863823ORPHA:391372Intellectual disability-severe speech delay-mild dysmorphism syndrome184
HP:0004305HP:0000733Motor stereotypy1FOXP1 CL E G H270863823OMIM:613670Mental retardation with language impairment and with or without autistic features184
HP:0004305HP:0001336Myoclonus1FOXRED1 CL E G H5557226927OMIM:618241Mitochondrial complex I deficiency, nuclear type 19.61
HP:0004305HP:0002305Athetosis1FOXRED1 CL E G H5557226927OMIM:618241Mitochondrial complex I deficiency, nuclear type 19.61
HP:0004305HP:0001336Myoclonus1FRMD5 CL E G H8497828214OMIM:620094
HP:0004305HP:0001337Tremor1FRMPD4 CL E G H975829007OMIM:300983MENTAL RETARDATION, X-LINKED 104; MRX10432
HP:0004305HP:0001336Myoclonus1FRRS1L CL E G H237321362OMIM:616981Epileptic encephalopathy, early infantile, 37.4
HP:0004305HP:0002072Chorea1FRRS1L CL E G H237321362OMIM:616981Epileptic encephalopathy, early infantile, 374
HP:0004305HP:0002305Athetosis1FRRS1L CL E G H237321362OMIM:616981Epileptic encephalopathy, early infantile, 374
HP:0004305HP:0001337Tremor1FTL CL E G H25123999OMIM:606159Neurodegeneration with brain iron accumulation 333
HP:0004305HP:0002072Chorea1FTL CL E G H25123999OMIM:606159Neurodegeneration with brain iron accumulation 333
HP:0004305HP:0002305Athetosis1FTL CL E G H25123999OMIM:606159Neurodegeneration with brain iron accumulation 333
HP:0004305HP:0001336Myoclonus1FTL CL E G H25123999ORPHA:157846Neuroferritinopathy33
HP:0004305HP:0001337Tremor1FTL CL E G H25123999ORPHA:157846Neuroferritinopathy33
HP:0004305HP:0002072Chorea1FTL CL E G H25123999ORPHA:157846NeuroferritinopathyHP:0040282 - Frequent33
HP:0004305HP:0002380Fasciculations1FUS CL E G H25214010OMIM:608030Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia.105
HP:0004305HP:0002380Fasciculations1FUS CL E G H25214010ORPHA:275872Frontotemporal dementia with motor neuron diseaseHP:0040283 - Occasional105
HP:0004305HP:0001337Tremor1FUS CL E G H25214010ORPHA:300605Juvenile amyotrophic lateral sclerosis105
HP:0004305HP:0002072Chorea1FUS CL E G H25214010ORPHA:300605Juvenile amyotrophic lateral sclerosisHP:0040283 - Occasional105
HP:0004305HP:0002169Clonus1FUS CL E G H25214010ORPHA:300605Juvenile amyotrophic lateral sclerosisHP:0040283 - Occasional105
HP:0004305HP:0001337Tremor1FUS CL E G H25214010OMIM:614782TREMOR, HEREDITARY ESSENTIAL, 4; ETM4105
HP:0004305HP:0001337Tremor1FXN CL E G H23953951ORPHA:95Friedreich ataxia18
HP:0004305HP:0002072Chorea1FXN CL E G H23953951ORPHA:95Friedreich ataxiaHP:0040283 - Occasional18
HP:0004305HP:0002380Fasciculations1FXR1 CL E G H80874023OMIM:618823MYOPATHY, CONGENITAL PROXIMAL, WITH MINICORE LESIONS; MYOPMIL
HP:0004305HP:0002380Fasciculations1FXR1 CL E G H80874023OMIM:618822MYOPATHY, CONGENITAL, WITH RESPIRATORY INSUFFICIENCY AND BONE FRACTURES; MYORIBF
HP:0004305HP:0001336Myoclonus1FZR1 CL E G H5134324824ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional
HP:0004305HP:0001337Tremor1FZR1 CL E G H5134324824ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional
HP:0004305HP:0000733Motor stereotypy1GABBR2 CL E G H95684507ORPHA:3095Atypical Rett syndrome5
HP:0004305HP:0001336Myoclonus1GABBR2 CL E G H95684507ORPHA:3095Atypical Rett syndrome5
HP:0004305HP:0001337Tremor1GABBR2 CL E G H95684507ORPHA:3095Atypical Rett syndromeHP:0040283 - Occasional5
HP:0004305HP:0001336Myoclonus1GABBR2 CL E G H95684507ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional5
HP:0004305HP:0001337Tremor1GABBR2 CL E G H95684507ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional5
HP:0004305HP:0000733Motor stereotypy1GABRA1 CL E G H25544075ORPHA:64280Childhood absence epilepsy134
HP:0004305HP:0001336Myoclonus1GABRA1 CL E G H25544075ORPHA:64280Childhood absence epilepsy134
HP:0004305HP:0001336Myoclonus1GABRA1 CL E G H25544075ORPHA:33069Dravet syndromeHP:0040282 - Frequent134
HP:0004305HP:0001337Tremor1GABRA1 CL E G H25544075ORPHA:33069Dravet syndrome134
HP:0004305HP:0001336Myoclonus1GABRA1 CL E G H25544075ORPHA:307Juvenile myoclonic epilepsy134
HP:0004305HP:0002072Chorea1GABRA2 CL E G H25554076OMIM:618557DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 78; DEE784
HP:0004305HP:0001336Myoclonus1GABRA2 CL E G H25554076ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional4
HP:0004305HP:0001337Tremor1GABRA2 CL E G H25554076ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional4
HP:0004305HP:0001337Tremor1GABRA3 CL E G H25564077ORPHA:79102Thyrotoxic periodic paralysisHP:0040282 - Frequent
HP:0004305HP:0001336Myoclonus1GABRA5 CL E G H25584079ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional
HP:0004305HP:0001337Tremor1GABRA5 CL E G H25584079ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional
HP:0004305HP:0001336Myoclonus1GABRB2 CL E G H25614082OMIM:617829Epileptic encephalopathy, infantile or early childhood, 2.44
HP:0004305HP:0001336Myoclonus1GABRB2 CL E G H25614082ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional44
HP:0004305HP:0001337Tremor1GABRB2 CL E G H25614082ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional44
HP:0004305HP:0000733Motor stereotypy1GABRB3 CL E G H25624083ORPHA:64280Childhood absence epilepsy57
HP:0004305HP:0001336Myoclonus1GABRB3 CL E G H25624083ORPHA:64280Childhood absence epilepsy57
HP:0004305HP:0001336Myoclonus1GABRB3 CL E G H25624083ORPHA:2382Lennox-Gastaut syndromeHP:0040282 - Frequent57
HP:0004305HP:0000733Motor stereotypy1GABRD CL E G H25634084ORPHA:16061p36 deletion syndromeHP:0040282 - Frequent10
HP:0004305HP:0001337Tremor1GABRD CL E G H25634084ORPHA:36387Generalized epilepsy with febrile seizures-plusHP:0040284 - Very rare10
HP:0004305HP:0001336Myoclonus1GABRD CL E G H25634084ORPHA:307Juvenile myoclonic epilepsy10
HP:0004305HP:0000733Motor stereotypy1GABRG2 CL E G H25664087ORPHA:64280Childhood absence epilepsy139
HP:0004305HP:0001336Myoclonus1GABRG2 CL E G H25664087ORPHA:64280Childhood absence epilepsy139
HP:0004305HP:0001336Myoclonus1GABRG2 CL E G H25664087ORPHA:33069Dravet syndromeHP:0040282 - Frequent139
HP:0004305HP:0001337Tremor1GABRG2 CL E G H25664087ORPHA:33069Dravet syndrome139
HP:0004305HP:0001337Tremor1GABRG2 CL E G H25664087ORPHA:36387Generalized epilepsy with febrile seizures-plusHP:0040284 - Very rare139
HP:0004305HP:0001336Myoclonus1GABRG2 CL E G H25664087ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional139
HP:0004305HP:0001337Tremor1GABRG2 CL E G H25664087ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional139
HP:0004305HP:0001336Myoclonus1GALC CL E G H25814115ORPHA:206436Infantile Krabbe diseaseHP:0040283 - Occasional160
HP:0004305HP:0002169Clonus1GALC CL E G H25814115ORPHA:206436Infantile Krabbe disease160
HP:0004305HP:0001337Tremor1GALC CL E G H25814115ORPHA:206443Late-infantile/juvenile Krabbe diseaseHP:0040283 - Occasional160
HP:0004305HP:0001337Tremor1GALT CL E G H25924135ORPHA:79239Classic galactosemia351
HP:0004305HP:0001336Myoclonus1GAMT CL E G H25934136OMIM:612736Cerebral creatine deficiency syndrome 2.91
HP:0004305HP:0001337Tremor1GAMT CL E G H25934136OMIM:612736Cerebral creatine deficiency syndrome 291
HP:0004305HP:0002072Chorea1GAMT CL E G H25934136ORPHA:382Guanidinoacetate methyltransferase deficiencyHP:0040283 - Occasional91
HP:0004305HP:0002305Athetosis1GAMT CL E G H25934136ORPHA:382Guanidinoacetate methyltransferase deficiencyHP:0040283 - Occasional91
HP:0004305HP:0100033Tics1GATAD2B CL E G H5745930778OMIM:615074Mental retardation, autosomal dominant 18HP:0040283 - Occasional33
HP:0004305HP:0100033Tics1GATAD2B CL E G H5745930778ORPHA:363686Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndromeHP:0040283 - Occasional33
HP:0004305HP:0001336Myoclonus1GBA1 CL E G H26294177OMIM:231000Gaucher disease, type III.
HP:0004305HP:0001337Tremor1GBA1 CL E G H26294177ORPHA:411602Hereditary late-onset Parkinson disease
HP:0004305HP:0001337Tremor1GBA1 CL E G H26294177OMIM:168600Parkinson disease, late-onset.
HP:0004305HP:0001337Tremor1GBA2 CL E G H5770418986ORPHA:352641Autosomal recessive cerebellar ataxia with late-onset spasticity30
HP:0004305HP:0001337Tremor1GBA2 CL E G H5770418986ORPHA:320391Autosomal recessive spastic paraplegia type 4630
HP:0004305HP:0001337Tremor1GBA2 CL E G H5770418986OMIM:614409Spastic paraplegia 46, autosomal recessive30
HP:0004305HP:0002169Clonus1GBA2 CL E G H5770418986OMIM:614409Spastic paraplegia 46, autosomal recessive30
HP:0004305HP:0002072Chorea1GCDH CL E G H26394189OMIM:231670Glutaric acidemia I115
HP:0004305HP:0002305Athetosis1GCDH CL E G H26394189OMIM:231670Glutaric acidemia I115
HP:0004305HP:0001337Tremor1GCDH CL E G H26394189ORPHA:25Glutaryl-CoA dehydrogenase deficiencyHP:0040283 - Occasional115
HP:0004305HP:0002072Chorea1GCDH CL E G H26394189ORPHA:25Glutaryl-CoA dehydrogenase deficiencyHP:0040283 - Occasional115
HP:0004305HP:0002305Athetosis1GCDH CL E G H26394189ORPHA:25Glutaryl-CoA dehydrogenase deficiencyHP:0040282 - Frequent115
HP:0004305HP:0001337Tremor1GCH1 CL E G H26434193ORPHA:98808Autosomal dominant dopa-responsive dystonia86
HP:0004305HP:0001337Tremor1GCH1 CL E G H26434193OMIM:128230Dystonia, DOPA-responsive, with or without hyperphenylalaninemia86
HP:0004305HP:0001337Tremor1GCH1 CL E G H26434193OMIM:233910Hyperphenylalaninemia, BH4-deficient, B.86
HP:0004305HP:0002072Chorea1GCH1 CL E G H26434193OMIM:233910Hyperphenylalaninemia, BH4-deficient, B86
HP:0004305HP:0002305Athetosis1GCH1 CL E G H26434193OMIM:233910Hyperphenylalaninemia, BH4-deficient, B86
HP:0004305HP:0001337Tremor1GCK CL E G H26454195ORPHA:79299Hyperinsulinism due to glucokinase deficiency237
HP:0004305HP:0001336Myoclonus1GCSH CL E G H26534208OMIM:605899Glycine encephalopathy.5
HP:0004305HP:0001336Myoclonus1GFAP CL E G H26704235OMIM:203450Alexander disease188
HP:0004305HP:0001336Myoclonus1GFAP CL E G H26704235ORPHA:363717Alexander disease type I188
HP:0004305HP:0001336Myoclonus1GFAP CL E G H26704235ORPHA:363722Alexander disease type II188
HP:0004305HP:0002169Clonus1GFM2 CL E G H8434029682ORPHA:565624Combined oxidative phosphorylation defect type 3943
HP:0004305HP:0001337Tremor1GGT1 CL E G H26784250OMIM:231950GLUTATHIONURIAHP:0040284 - Very rare
HP:0004305HP:0001337Tremor1GIGYF2 CL E G H2605811960ORPHA:411602Hereditary late-onset Parkinson disease8
HP:0004305HP:0001337Tremor1GIGYF2 CL E G H2605811960OMIM:607688PARKINSON DISEASE 11, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO; PARK118
HP:0004305HP:0000733Motor stereotypy1GJA5 CL E G H27024279OMIM:612474Chromosome 1q21.1 deletion syndrome, 1.35-mb39
HP:0004305HP:0001337Tremor1GJA5 CL E G H27024279OMIM:612474Chromosome 1q21.1 deletion syndrome, 1.35-mb39
HP:0004305HP:0000733Motor stereotypy1GJA8 CL E G H27034281OMIM:612474Chromosome 1q21.1 deletion syndrome, 1.35-mb34
HP:0004305HP:0001337Tremor1GJA8 CL E G H27034281OMIM:612474Chromosome 1q21.1 deletion syndrome, 1.35-mb34
HP:0004305HP:0001337Tremor1GJB1 CL E G H27054283OMIM:302800Charcot-Marie-Tooth neuropathy, X-linked dominant, 1.107
HP:0004305HP:0001337Tremor1GJB1 CL E G H27054283ORPHA:101075X-linked Charcot-Marie-Tooth disease type 1HP:0040283 - Occasional107
HP:0004305HP:0001337Tremor1GJB1 CL E G H27054283ORPHA:1175X-linked progressive cerebellar ataxia107
HP:0004305HP:0001337Tremor1GJC2 CL E G H5716517494OMIM:608804Leukodystrophy, hypomyelinating, 237
HP:0004305HP:0002072Chorea1GJC2 CL E G H5716517494OMIM:608804Leukodystrophy, hypomyelinating, 237
HP:0004305HP:0002305Athetosis1GJC2 CL E G H5716517494OMIM:608804Leukodystrophy, hypomyelinating, 237
HP:0004305HP:0001337Tremor1GJC2 CL E G H5716517494OMIM:613206Spastic paraplegia 44, autosomal recessive37
HP:0004305HP:0002380Fasciculations1GLA CL E G H27174296OMIM:301500Fabry disease.291
HP:0004305HP:0001336Myoclonus1GLDC CL E G H27314313OMIM:605899Glycine encephalopathy.166
HP:0004305HP:0001336Myoclonus1GLRA1 CL E G H27414326ORPHA:3197Hereditary hyperekplexiaHP:0040281 - Very frequent63
HP:0004305HP:0002380Fasciculations1GLRA1 CL E G H27414326ORPHA:3197Hereditary hyperekplexiaHP:0040281 - Very frequent63
HP:0004305HP:0001336Myoclonus1GLRA1 CL E G H27414326OMIM:149400Hyperekplexia 1.63
HP:0004305HP:0001336Myoclonus1GLRB CL E G H27434329ORPHA:3197Hereditary hyperekplexiaHP:0040281 - Very frequent46
HP:0004305HP:0002380Fasciculations1GLRB CL E G H27434329ORPHA:3197Hereditary hyperekplexiaHP:0040281 - Very frequent46
HP:0004305HP:0001336Myoclonus1GLRB CL E G H27434329OMIM:614619Hyperekplexia 2.46
HP:0004305HP:0001336Myoclonus1GLRX5 CL E G H5121820134ORPHA:401866Childhood-onset spasticity with hyperglycinemiaHP:0040283 - Occasional17
HP:0004305HP:0001337Tremor1GLUD2 CL E G H27474336OMIM:168600Parkinson disease, late-onset.1
HP:0004305HP:0000733Motor stereotypy1GLYCTK CL E G H13215824247OMIM:220120D-GLYCERIC ACIDURIA6
HP:0004305HP:0001336Myoclonus1GLYCTK CL E G H13215824247OMIM:220120D-GLYCERIC ACIDURIA.6
HP:0004305HP:0001336Myoclonus1GLYCTK CL E G H13215824247ORPHA:941D-glyceric aciduriaHP:0040283 - Occasional6
HP:0004305HP:0002072Chorea1GLYCTK CL E G H13215824247ORPHA:941D-glyceric aciduriaHP:0040283 - Occasional6
HP:0004305HP:0002072Chorea1GM2A CL E G H27604367ORPHA:309246GM2 gangliosidosis, AB variantHP:0040282 - Frequent69
HP:0004305HP:0002072Chorea1GM2A CL E G H27604367OMIM:272750Gm2-Gangliosidosis, ab variant.69
HP:0004305HP:0002169Clonus1GMPPB CL E G H2992522932ORPHA:370959Congenital muscular dystrophy with cerebellar involvementHP:0040283 - Occasional34
HP:0004305HP:0001336Myoclonus1GNA11 CL E G H27674379ORPHA:428Autosomal dominant hypocalcemia16
HP:0004305HP:0000733Motor stereotypy1GNAI1 CL E G H27704384OMIM:619854
HP:0004305HP:0001336Myoclonus1GNAO1 CL E G H27754389ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional36
HP:0004305HP:0001337Tremor1GNAO1 CL E G H27754389ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional36
HP:0004305HP:0002072Chorea1GNAO1 CL E G H27754389ORPHA:1934Early infantile epileptic encephalopathy36
HP:0004305HP:0002305Athetosis1GNAO1 CL E G H27754389ORPHA:1934Early infantile epileptic encephalopathy36
HP:0004305HP:0002072Chorea1GNAO1 CL E G H27754389OMIM:615473Epileptic encephalopathy, early infantile, 17HP:0040283 - Occasional36
HP:0004305HP:0002305Athetosis1GNAO1 CL E G H27754389OMIM:615473Epileptic encephalopathy, early infantile, 17HP:0040283 - Occasional36
HP:0004305HP:0002072Chorea1GNAO1 CL E G H27754389OMIM:617493Neurodevelopmental disorder with involuntary movements.36
HP:0004305HP:0002305Athetosis1GNAO1 CL E G H27754389OMIM:617493Neurodevelopmental disorder with involuntary movements.36
HP:0004305HP:0001336Myoclonus1GNAS CL E G H27784392ORPHA:79443Pseudohypoparathyroidism type 1A101
HP:0004305HP:0002072Chorea1GNAS CL E G H27784392ORPHA:79443Pseudohypoparathyroidism type 1A101
HP:0004305HP:0002305Athetosis1GNAS CL E G H27784392ORPHA:79443Pseudohypoparathyroidism type 1A101
HP:0004305HP:0001336Myoclonus1GNAS CL E G H27784392ORPHA:94089Pseudohypoparathyroidism type 1B101
HP:0004305HP:0001336Myoclonus1GNAS CL E G H27784392ORPHA:79444Pseudohypoparathyroidism type 1C101
HP:0004305HP:0001336Myoclonus1GNB1 CL E G H27824396OMIM:616973Mental retardation, autosomal dominant 4212
HP:0004305HP:0100033Tics1GNB1 CL E G H27824396OMIM:616973Mental retardation, autosomal dominant 4212
HP:0004305HP:0000733Motor stereotypy1GNB2 CL E G H27834398OMIM:619503NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0004305HP:0002072Chorea1GON7 CL E G H8452020356OMIM:619603GALLOWAY-MOWAT SYNDROME 9; GAMOS9
HP:0004305HP:0002305Athetosis1GON7 CL E G H8452020356OMIM:619603GALLOWAY-MOWAT SYNDROME 9; GAMOS9
HP:0004305HP:0001336Myoclonus1GOSR2 CL E G H95704431OMIM:614018Epilepsy, progressive myoclonic, 6.88
HP:0004305HP:0001337Tremor1GOSR2 CL E G H95704431OMIM:614018Epilepsy, progressive myoclonic, 6.88
HP:0004305HP:0001337Tremor1GPAA1 CL E G H87334446OMIM:617810GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15; GPIBD15
HP:0004305HP:0001337Tremor1GPAA1 CL E G H87334446ORPHA:529665Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndromeHP:0040282 - Frequent
HP:0004305HP:0001336Myoclonus1GPHN CL E G H1024315465ORPHA:3197Hereditary hyperekplexiaHP:0040281 - Very frequent18
HP:0004305HP:0002380Fasciculations1GPHN CL E G H1024315465ORPHA:3197Hereditary hyperekplexiaHP:0040281 - Very frequent18
HP:0004305HP:0001336Myoclonus1GPHN CL E G H1024315465OMIM:149400Hyperekplexia 1.18
HP:0004305HP:0002072Chorea1GPR88 CL E G H541124539OMIM:616939Chorea, childhood-onset, with psychomotor retardation1
HP:0004305HP:0001337Tremor1GPT2 CL E G H8470618062ORPHA:477673Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndromeHP:0040283 - Occasional4
HP:0004305HP:0100033Tics1GRIA1 CL E G H28904571OMIM:6199273
HP:0004305HP:0000733Motor stereotypy1GRIA2 CL E G H28914572OMIM:618917NEURODEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND BEHAVIORAL ABNORMALITIES; NEDLIB1
HP:0004305HP:0002072Chorea1GRIA2 CL E G H28914572OMIM:618917NEURODEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND BEHAVIORAL ABNORMALITIES; NEDLIB1
HP:0004305HP:0001336Myoclonus1GRIA3 CL E G H28924573OMIM:300699Mental retardation, X-linked 9430
HP:0004305HP:0001337Tremor1GRIA3 CL E G H28924573OMIM:300699Mental retardation, X-linked 9430
HP:0004305HP:0001336Myoclonus1GRIA3 CL E G H28924573ORPHA:364028X-linked intellectual disability due to GRIA3 mutationsHP:0040283 - Occasional30
HP:0004305HP:0002072Chorea1GRIA4 CL E G H28934574OMIM:617864Neurodevelopmental disorder with or without seizures and gait abnormalities.
HP:0004305HP:0001336Myoclonus1GRIK2 CL E G H28984580OMIM:611092Mental retardation, autosomal recessive 6HP:0040283 - Occasional32
HP:0004305HP:0001337Tremor1GRIK2 CL E G H28984580OMIM:611092Mental retardation, autosomal recessive 6HP:0040283 - Occasional32
HP:0004305HP:0000733Motor stereotypy1GRIK2 CL E G H28984580OMIM:619580NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND ATAXIA AND WITH OR WITHOUT SEIZURES; NEDLAS32
HP:0004305HP:0002072Chorea1GRIK2 CL E G H28984580OMIM:619580NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND ATAXIA AND WITH OR WITHOUT SEIZURES; NEDLAS32
HP:0004305HP:0002305Athetosis1GRIK2 CL E G H28984580OMIM:619580NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND ATAXIA AND WITH OR WITHOUT SEIZURES; NEDLAS32
HP:0004305HP:0000733Motor stereotypy1GRIN1 CL E G H29024584ORPHA:208447Bilateral generalized polymicrogyriaHP:0040282 - Frequent108
HP:0004305HP:0001336Myoclonus1GRIN1 CL E G H29024584ORPHA:208447Bilateral generalized polymicrogyria108
HP:0004305HP:0007166Paroxysmal dyskinesia1GRIN1 CL E G H29024584ORPHA:208447Bilateral generalized polymicrogyriaHP:0040283 - Occasional108
HP:0004305HP:0001336Myoclonus1GRIN1 CL E G H29024584OMIM:619814DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 101; DEE101108
HP:0004305HP:0001336Myoclonus1GRIN1 CL E G H29024584ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional108
HP:0004305HP:0001337Tremor1GRIN1 CL E G H29024584ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional108
HP:0004305HP:0002072Chorea1GRIN1 CL E G H29024584ORPHA:1934Early infantile epileptic encephalopathy108
HP:0004305HP:0002305Athetosis1GRIN1 CL E G H29024584ORPHA:1934Early infantile epileptic encephalopathy108
HP:0004305HP:0001336Myoclonus1GRIN1 CL E G H29024584OMIM:614254Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant.108
HP:0004305HP:0002072Chorea1GRIN1 CL E G H29024584OMIM:614254Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant.108
HP:0004305HP:0000733Motor stereotypy1GRIN1 CL E G H29024584OMIM:617820Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive108
HP:0004305HP:0000733Motor stereotypy1GRIN2A CL E G H29034585ORPHA:289266Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation434
HP:0004305HP:0001336Myoclonus1GRIN2A CL E G H29034585ORPHA:289266Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutationHP:0040283 - Occasional434
HP:0004305HP:0001336Myoclonus1GRIN2B CL E G H29044586OMIM:616139Epileptic encephalopathy, early infantile, 27274
HP:0004305HP:0002072Chorea1GRIN2B CL E G H29044586OMIM:616139Epileptic encephalopathy, early infantile, 27.274
HP:0004305HP:0001336Myoclonus1GRIN2B CL E G H29044586ORPHA:3451Infantile spasms syndromeHP:0040281 - Very frequent274
HP:0004305HP:0002072Chorea1GRIN2B CL E G H29044586OMIM:613970Mental retardation, autosomal dominant 6, with or without seizures.274
HP:0004305HP:0001336Myoclonus1GRIN2D CL E G H29064588ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional2
HP:0004305HP:0001337Tremor1GRIN2D CL E G H29064588ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional2
HP:0004305HP:0001337Tremor1GRM1 CL E G H29114593OMIM:614831SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13; SCAR138
HP:0004305HP:0001336Myoclonus1GRM7 CL E G H29174599ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional5
HP:0004305HP:0001337Tremor1GRM7 CL E G H29174599ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional5
HP:0004305HP:0002072Chorea1GRM7 CL E G H29174599ORPHA:1934Early infantile epileptic encephalopathy5
HP:0004305HP:0002305Athetosis1GRM7 CL E G H29174599ORPHA:1934Early infantile epileptic encephalopathy5
HP:0004305HP:0000733Motor stereotypy1GRN CL E G H28964601ORPHA:275864Behavioral variant of frontotemporal dementiaHP:0040281 - Very frequent126
HP:0004305HP:0002380Fasciculations1GRN CL E G H28964601ORPHA:275864Behavioral variant of frontotemporal dementiaHP:0040283 - Occasional126
HP:0004305HP:0000733Motor stereotypy1GRN CL E G H28964601OMIM:607485Frontotemporal lobar degeneration with TDP43 inclusions126
HP:0004305HP:0001337Tremor1GSS CL E G H29374624OMIM:266130Glutathione synthetase deficiency39
HP:0004305HP:0001337Tremor1GTF2E2 CL E G H29614651ORPHA:33364Trichothiodystrophy2
HP:0004305HP:0001337Tremor1GTF2H5 CL E G H40467221157ORPHA:33364Trichothiodystrophy3
HP:0004305HP:0001337Tremor1GTF2I CL E G H29694659ORPHA:904Williams syndromeHP:0040281 - Very frequent1
HP:0004305HP:0001337Tremor1GTF2IRD1 CL E G H95694661ORPHA:904Williams syndromeHP:0040281 - Very frequent1
HP:0004305HP:0001337Tremor1GTF2IRD2 CL E G H8416330775ORPHA:904Williams syndromeHP:0040281 - Very frequent1
HP:0004305HP:0001337Tremor1GTPBP2 CL E G H546764670OMIM:617988Jaberi-Elahi syndrome.
HP:0004305HP:0002072Chorea1GTPBP2 CL E G H546764670OMIM:617988Jaberi-Elahi syndrome
HP:0004305HP:0002305Athetosis1GTPBP2 CL E G H546764670OMIM:617988Jaberi-Elahi syndrome
HP:0004305HP:0000733Motor stereotypy1GUCY2D CL E G H30004689OMIM:204000Leber congenital amaurosis, type I124
HP:0004305HP:0001336Myoclonus1GUF1 CL E G H6055825799OMIM:617065Epileptic encephalopathy, early infantile, 40.2
HP:0004305HP:0002072Chorea1GUF1 CL E G H6055825799OMIM:617065Epileptic encephalopathy, early infantile, 402
HP:0004305HP:0002305Athetosis1GUF1 CL E G H6055825799OMIM:617065Epileptic encephalopathy, early infantile, 402
HP:0004305HP:0001336Myoclonus1GUF1 CL E G H6055825799ORPHA:3451Infantile spasms syndromeHP:0040281 - Very frequent2
HP:0004305HP:0000733Motor stereotypy1H4C5 CL E G H83674790OMIM:619950
HP:0004305HP:0002072Chorea1HCFC1 CL E G H30544839OMIM:309541Methylmalonic acidemia and homocysteinemia, Cblx typeHP:0040283 - Occasional100
HP:0004305HP:0002305Athetosis1HCFC1 CL E G H30544839OMIM:309541Methylmalonic acidemia and homocysteinemia, Cblx typeHP:0040283 - Occasional100
HP:0004305HP:0001337Tremor1HCN1 CL E G H3489804845ORPHA:36387Generalized epilepsy with febrile seizures-plusHP:0040284 - Very rare54
HP:0004305HP:0001336Myoclonus1HCN1 CL E G H3489804845ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional54
HP:0004305HP:0001337Tremor1HCN1 CL E G H3489804845ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional54
HP:0004305HP:0000733Motor stereotypy1HDAC4 CL E G H975914063ORPHA:10012q37 microdeletion syndromeHP:0040283 - Occasional33
HP:0004305HP:0100033Tics1HDC CL E G H30674855OMIM:137580Gilles de la tourette syndrome1
HP:0004305HP:0000733Motor stereotypy1HECW2 CL E G H5752029853OMIM:617268Neurodevelopmental disorder with hypotonia, seizures, and absent language11
HP:0004305HP:0000733Motor stereotypy1HERC2 CL E G H89244868OMIM:615516Mental retardation, autosomal recessive 3838
HP:0004305HP:0001337Tremor1HESX1 CL E G H88204877ORPHA:478Kallmann syndromeHP:0040283 - Occasional21
HP:0004305HP:0002380Fasciculations1HEXB CL E G H30744879OMIM:268800Sandhoff disease.80
HP:0004305HP:0001337Tremor1HEXB CL E G H30744879ORPHA:309169Sandhoff disease, adult form80
HP:0004305HP:0002380Fasciculations1HEXB CL E G H30744879ORPHA:309169Sandhoff disease, adult form80
HP:0004305HP:0001336Myoclonus1HEXB CL E G H30744879ORPHA:309155Sandhoff disease, infantile form80
HP:0004305HP:0002380Fasciculations1HEXB CL E G H30744879ORPHA:309162Sandhoff disease, juvenile form80
HP:0004305HP:0001336Myoclonus1HIBCH CL E G H262754908OMIM:2506203-Hydroxyisobutyryl-Coa hydrolase deficiency.32
HP:0004305HP:0001337Tremor1HIBCH CL E G H262754908ORPHA:88639Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency32
HP:0004305HP:0002169Clonus1HIKESHI CL E G H5150126938OMIM:616881Leukodystrophy, hypomyelinating, 13.3
HP:0004305HP:0002380Fasciculations1HINT1 CL E G H30944912ORPHA:324442Autosomal recessive axonal neuropathy with neuromyotonia12
HP:0004305HP:0002380Fasciculations1HINT1 CL E G H30944912OMIM:137200Neuromyotonia and axonal neuropathy, autosomal recessive.12
HP:0004305HP:0001336Myoclonus1HLA-DQB1 CL E G H31194944OMIM:123400Creutzfeldt-Jakob disease.
HP:0004305HP:0001337Tremor1HMBS CL E G H31454982ORPHA:79276Acute intermittent porphyriaHP:0040284 - Very rare81
HP:0004305HP:0001337Tremor1HMGA2 CL E G H80915009ORPHA:9406312q14 microdeletion syndromeHP:0040282 - Frequent2
HP:0004305HP:0001336Myoclonus1HMGCL CL E G H31555005ORPHA:203-hydroxy-3-methylglutaric aciduriaHP:0040283 - Occasional35
HP:0004305HP:0001336Myoclonus1HMGCL CL E G H31555005OMIM:2464503-Hydroxy-3-Methylglutaryl-Coa lyase deficiency.35
HP:0004305HP:0001337Tremor1HNF4A CL E G H31725024ORPHA:263455Hyperinsulinism due to HNF4A deficiencyHP:0040281 - Very frequent138
HP:0004305HP:0002380Fasciculations1HNRNPA1 CL E G H31785031ORPHA:52430Inclusion body myopathy with Paget disease of bone and frontotemporal dementiaHP:0040283 - Occasional31
HP:0004305HP:0002380Fasciculations1HNRNPA2B1 CL E G H31815033ORPHA:52430Inclusion body myopathy with Paget disease of bone and frontotemporal dementiaHP:0040283 - Occasional5
HP:0004305HP:0000733Motor stereotypy1HNRNPH2 CL E G H31885042OMIM:300986MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE; MRXSB3
HP:0004305HP:0000733Motor stereotypy1HNRNPR CL E G H102365047OMIM:620073
HP:0004305HP:0001336Myoclonus1HNRNPU CL E G H31925048OMIM:617391Epileptic encephalopathy, early infantile, 5439
HP:0004305HP:0001337Tremor1HPCA CL E G H32085144OMIM:224500Dystonia 2, torsion, autosomal recessive.4
HP:0004305HP:0001337Tremor1HPCA CL E G H32085144ORPHA:99657Primary dystonia, DYT2 typeHP:0040282 - Frequent4
HP:0004305HP:0002072Chorea1HPRT1 CL E G H32515157OMIM:300322Lesch-Nyhan syndrome76
HP:0004305HP:0002305Athetosis1HPRT1 CL E G H32515157OMIM:300322Lesch-Nyhan syndrome76
HP:0004305HP:0001337Tremor1HS6ST1 CL E G H93945201ORPHA:478Kallmann syndromeHP:0040283 - Occasional8
HP:0004305HP:0002072Chorea1HSD17B10 CL E G H30284800ORPHA:391428HSD10 disease, infantile type19
HP:0004305HP:0002305Athetosis1HSD17B10 CL E G H30284800ORPHA:391428HSD10 disease, infantile type19
HP:0004305HP:0002072Chorea1HSD17B10 CL E G H30284800OMIM:300438HSD10 mitochondrial disease19
HP:0004305HP:0002305Athetosis1HSD17B10 CL E G H30284800OMIM:300438HSD10 mitochondrial disease19
HP:0004305HP:0001337Tremor1HSD17B4 CL E G H32955213OMIM:233400Perrault syndrome 198
HP:0004305HP:0002380Fasciculations1HSPB1 CL E G H33155246ORPHA:99940Autosomal dominant Charcot-Marie-Tooth disease type 2F47
HP:0004305HP:0002380Fasciculations1HSPB1 CL E G H33155246OMIM:606595Charcot-Marie-Tooth disease, axonal, type 2F.47
HP:0004305HP:0002072Chorea1HSPD1 CL E G H33295261OMIM:612233Leukodystrophy, hypomyelinating, 446
HP:0004305HP:0002305Athetosis1HSPD1 CL E G H33295261OMIM:612233Leukodystrophy, hypomyelinating, 446
HP:0004305HP:0000733Motor stereotypy1HSPG2 CL E G H33395273ORPHA:16061p36 deletion syndromeHP:0040282 - Frequent345
HP:0004305HP:0001337Tremor1HTRA2 CL E G H2742914348OMIM:6172483-methylglutaconic aciduria, type VIII.39
HP:0004305HP:0002169Clonus1HTRA2 CL E G H2742914348OMIM:6172483-methylglutaconic aciduria, type VIII39
HP:0004305HP:0001337Tremor1HTRA2 CL E G H2742914348OMIM:610297PARKINSON DISEASE 13, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO; PARK1339
HP:0004305HP:0001337Tremor1HTRA2 CL E G H2742914348ORPHA:2828Young-onset Parkinson diseaseHP:0040282 - Frequent39
HP:0004305HP:0001336Myoclonus1HTT CL E G H30644851ORPHA:399Huntington diseaseHP:0040282 - Frequent12
HP:0004305HP:0002072Chorea1HTT CL E G H30644851ORPHA:399Huntington diseaseHP:0040281 - Very frequent12
HP:0004305HP:0002072Chorea1HTT CL E G H30644851OMIM:143100Huntington disease.12
HP:0004305HP:0002169Clonus1HTT CL E G H30644851ORPHA:399Huntington diseaseHP:0040283 - Occasional12
HP:0004305HP:0001336Myoclonus1HTT CL E G H30644851ORPHA:248111Juvenile Huntington diseaseHP:0040283 - Occasional12
HP:0004305HP:0002072Chorea1HTT CL E G H30644851ORPHA:248111Juvenile Huntington diseaseHP:0040282 - Frequent12
HP:0004305HP:0001337Tremor1HTT CL E G H30644851OMIM:617435Lopes-Maciel-Rodan syndrome.12
HP:0004305HP:0002169Clonus1HTT CL E G H30644851OMIM:617435Lopes-Maciel-Rodan syndrome12
HP:0004305HP:0000733Motor stereotypy1HUWE1 CL E G H1007530892OMIM:309590Mental retardation, x-linked syndromic, Turner type98
HP:0004305HP:0001337Tremor1HYCC1 CL E G H8466824587OMIM:610532Leukodystrophy, hypomyelinating, 5
HP:0004305HP:0001337Tremor1HYLS1 CL E G H21984426558ORPHA:475Joubert syndromeHP:0040283 - Occasional31
HP:0004305HP:0001337Tremor1IFIH1 CL E G H6413518873ORPHA:51Aicardi-Goutières syndromeHP:0040283 - Occasional28
HP:0004305HP:0000733Motor stereotypy1IFNG CL E G H34585438ORPHA:805Tuberous sclerosis complex23
HP:0004305HP:0001337Tremor1IFRD1 CL E G H34755456ORPHA:98771Spinocerebellar ataxia type 181
HP:0004305HP:0001337Tremor1IL17RD CL E G H5475617616ORPHA:478Kallmann syndromeHP:0040283 - Occasional9
HP:0004305HP:0001337Tremor1IMPDH2 CL E G H36156053ORPHA:98808Autosomal dominant dopa-responsive dystonia1
HP:0004305HP:0001337Tremor1INPP5E CL E G H5662321474ORPHA:475Joubert syndromeHP:0040283 - Occasional111
HP:0004305HP:0001336Myoclonus1INPP5E CL E G H5662321474OMIM:213300Joubert syndrome 1111
HP:0004305HP:0001337Tremor1INPP5E CL E G H5662321474ORPHA:1454Joubert syndrome with hepatic defectHP:0040283 - Occasional111
HP:0004305HP:0001337Tremor1INPP5E CL E G H5662321474ORPHA:220493Joubert syndrome with ocular defectHP:0040283 - Occasional111
HP:0004305HP:0000733Motor stereotypy1IQSEC2 CL E G H2309629059ORPHA:397933Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome119
HP:0004305HP:0000733Motor stereotypy1IQSEC2 CL E G H2309629059ORPHA:819Smith-Magenis syndromeHP:0040281 - Very frequent119
HP:0004305HP:0002072Chorea1IREB2 CL E G H36586115OMIM:618451Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia.
HP:0004305HP:0002305Athetosis1IREB2 CL E G H36586115OMIM:618451Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia
HP:0004305HP:0002072Chorea1IRF2BPL CL E G H6420714282OMIM:618088Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures
HP:0004305HP:0002305Athetosis1IRF2BPL CL E G H6420714282OMIM:618088Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures
HP:0004305HP:0001336Myoclonus1IRF4 CL E G H36626119ORPHA:3452Whipple diseaseHP:0040281 - Very frequent1
HP:0004305HP:0001337Tremor1ITM2B CL E G H94456174OMIM:176500Cerebral amyloid angiopathy, itm2b-related, 1.3
HP:0004305HP:0001337Tremor1ITM2B CL E G H94456174OMIM:117300Dementia, familial danish3
HP:0004305HP:0001337Tremor1ITPA CL E G H37046176OMIM:616647Epileptic encephalopathy, early infantile, 358
HP:0004305HP:0001337Tremor1ITPR1 CL E G H37086180OMIM:206700Gillespie syndrome177
HP:0004305HP:0001337Tremor1ITPR1 CL E G H37086180OMIM:606658Spinocerebellar ataxia 15177
HP:0004305HP:0001337Tremor1ITPR1 CL E G H37086180OMIM:117360Spinocerebellar ataxia 29177
HP:0004305HP:0001337Tremor1ITPR1 CL E G H37086180ORPHA:98769Spinocerebellar ataxia type 15/16177
HP:0004305HP:0001337Tremor1ITPR1 CL E G H37086180ORPHA:208513Spinocerebellar ataxia type 29177
HP:0004305HP:0001336Myoclonus1JAG1 CL E G H1826188OMIM:619574CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2HH; CMT2HH257
HP:0004305HP:0001337Tremor1JAG1 CL E G H1826188OMIM:619574CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2HH; CMT2HH257
HP:0004305HP:0002380Fasciculations1JAG1 CL E G H1826188OMIM:619574CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2HH; CMT2HH257
HP:0004305HP:0001337Tremor1JPH3 CL E G H5733814203OMIM:606438Huntington disease-like 22
HP:0004305HP:0002072Chorea1JPH3 CL E G H5733814203ORPHA:98934Huntington disease-like 2HP:0040283 - Occasional2
HP:0004305HP:0002072Chorea1JPH3 CL E G H5733814203OMIM:606438Huntington disease-like 2.2
HP:0004305HP:0000733Motor stereotypy1JRK CL E G H86296199ORPHA:64280Childhood absence epilepsy
HP:0004305HP:0001336Myoclonus1JRK CL E G H86296199ORPHA:64280Childhood absence epilepsy
HP:0004305HP:0001336Myoclonus1JRK CL E G H86296199ORPHA:307Juvenile myoclonic epilepsy
HP:0004305HP:0000733Motor stereotypy1KAT5 CL E G H105245275OMIM:619103NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES; NEDFASB1
HP:0004305HP:0000733Motor stereotypy1KAT6A CL E G H799413013OMIM:616268Arboleda-Tham syndrome34
HP:0004305HP:0001337Tremor1KATNIP CL E G H2324729068ORPHA:475Joubert syndromeHP:0040283 - Occasional
HP:0004305HP:0001336Myoclonus1KCNA1 CL E G H37366218ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional145
HP:0004305HP:0001337Tremor1KCNA1 CL E G H37366218ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional145
HP:0004305HP:0002072Chorea1KCNA1 CL E G H37366218ORPHA:1934Early infantile epileptic encephalopathy145
HP:0004305HP:0002305Athetosis1KCNA1 CL E G H37366218ORPHA:1934Early infantile epileptic encephalopathy145
HP:0004305HP:0002072Chorea1KCNA1 CL E G H37366218ORPHA:37612Episodic ataxia type 1145
HP:0004305HP:0002305Athetosis1KCNA1 CL E G H37366218ORPHA:37612Episodic ataxia type 1145
HP:0004305HP:0001337Tremor1KCNA1 CL E G H37366218OMIM:160120Episodic ataxia, type 1.145
HP:0004305HP:0002072Chorea1KCNA1 CL E G H37366218ORPHA:98809Paroxysmal kinesigenic dyskinesiaHP:0040281 - Very frequent145
HP:0004305HP:0002305Athetosis1KCNA1 CL E G H37366218ORPHA:98809Paroxysmal kinesigenic dyskinesiaHP:0040281 - Very frequent145
HP:0004305HP:0001336Myoclonus1KCNA2 CL E G H37376220OMIM:616366Epileptic encephalopathy, early infantile, 32.13
HP:0004305HP:0001337Tremor1KCNA2 CL E G H37376220OMIM:616366Epileptic encephalopathy, early infantile, 32.13
HP:0004305HP:0001336Myoclonus1KCNA2 CL E G H37376220ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional13
HP:0004305HP:0001337Tremor1KCNA2 CL E G H37376220ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional13
HP:0004305HP:0000733Motor stereotypy1KCNAB2 CL E G H85146229ORPHA:16061p36 deletion syndromeHP:0040282 - Frequent1
HP:0004305HP:0000733Motor stereotypy1KCNB1 CL E G H37456231OMIM:616056EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26; EIEE2665
HP:0004305HP:0001336Myoclonus1KCNB1 CL E G H37456231ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional65
HP:0004305HP:0001337Tremor1KCNB1 CL E G H37456231ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional65
HP:0004305HP:0001336Myoclonus1KCNC1 CL E G H37466233OMIM:616187Epilepsy, progressive myoclonic 7.6
HP:0004305HP:0001337Tremor1KCNC1 CL E G H37466233OMIM:616187Epilepsy, progressive myoclonic 7.6
HP:0004305HP:0001336Myoclonus1KCNC2 CL E G H37476234OMIM:619913
HP:0004305HP:0001336Myoclonus1KCNC3 CL E G H37486235OMIM:605259Spinocerebellar ataxia 1317
HP:0004305HP:0001336Myoclonus1KCNC3 CL E G H37486235ORPHA:98768Spinocerebellar ataxia type 13HP:0040283 - Occasional17
HP:0004305HP:0001337Tremor1KCNC3 CL E G H37486235ORPHA:98768Spinocerebellar ataxia type 1317
HP:0004305HP:0001336Myoclonus1KCND3 CL E G H37526239OMIM:607346Spinocerebellar ataxia 19.35
HP:0004305HP:0001337Tremor1KCND3 CL E G H37526239OMIM:607346Spinocerebellar ataxia 1935
HP:0004305HP:0001337Tremor1KCNJ10 CL E G H37666256ORPHA:199343EAST syndrome121
HP:0004305HP:0001337Tremor1KCNJ10 CL E G H37666256OMIM:612780Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance121
HP:0004305HP:0001337Tremor1KCNJ18 CL E G H10013444439080ORPHA:79102Thyrotoxic periodic paralysisHP:0040282 - Frequent10
HP:0004305HP:0001337Tremor1KCNJ18 CL E G H10013444439080OMIM:613239Thyrotoxic periodic paralysis, susceptibility to, 210
HP:0004305HP:0001337Tremor1KCNK4 CL E G H508016279OMIM:618381Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome
HP:0004305HP:0002380Fasciculations1KCNK9 CL E G H513056283ORPHA:166108Intellectual disability, Birk-Barel type4
HP:0004305HP:0002072Chorea1KCNMA1 CL E G H37786284ORPHA:79137Generalized epilepsy-paroxysmal dyskinesia syndromeHP:0040283 - Occasional114
HP:0004305HP:0007166Paroxysmal dyskinesia1KCNMA1 CL E G H37786284ORPHA:79137Generalized epilepsy-paroxysmal dyskinesia syndromeHP:0040282 - Frequent114
HP:0004305HP:0007166Paroxysmal dyskinesia1KCNMA1 CL E G H37786284OMIM:609446Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy.114
HP:0004305HP:0001336Myoclonus1KCNN2 CL E G H37816291OMIM:619724DYSTONIA 34, MYOCLONIC; DYT34
HP:0004305HP:0001337Tremor1KCNN2 CL E G H37816291OMIM:619724DYSTONIA 34, MYOCLONIC; DYT34
HP:0004305HP:0000733Motor stereotypy1KCNN2 CL E G H37816291OMIM:619725NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE MOVEMENT OR BEHAVIORAL ABNORMALITIES; NEDMAB
HP:0004305HP:0001336Myoclonus1KCNN2 CL E G H37816291OMIM:619725NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE MOVEMENT OR BEHAVIORAL ABNORMALITIES; NEDMAB
HP:0004305HP:0001337Tremor1KCNN2 CL E G H37816291OMIM:619725NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE MOVEMENT OR BEHAVIORAL ABNORMALITIES; NEDMAB
HP:0004305HP:0100033Tics1KCNN2 CL E G H37816291OMIM:619725NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE MOVEMENT OR BEHAVIORAL ABNORMALITIES; NEDMAB
HP:0004305HP:0002072Chorea1KCNN2 CL E G H37816291OMIM:619725NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE MOVEMENT OR BEHAVIORAL ABNORMALITIES; NEDMAB
HP:0004305HP:0001336Myoclonus1KCNQ2 CL E G H37856296ORPHA:306Benign familial infantile epilepsy528
HP:0004305HP:0001336Myoclonus1KCNQ2 CL E G H37856296ORPHA:1949Benign familial neonatal epilepsy528
HP:0004305HP:0002169Clonus1KCNQ2 CL E G H37856296ORPHA:1949Benign familial neonatal epilepsyHP:0040282 - Frequent528
HP:0004305HP:0001336Myoclonus1KCNQ3 CL E G H37866297ORPHA:306Benign familial infantile epilepsy302
HP:0004305HP:0001336Myoclonus1KCNQ3 CL E G H37866297ORPHA:1949Benign familial neonatal epilepsy302
HP:0004305HP:0002169Clonus1KCNQ3 CL E G H37866297ORPHA:1949Benign familial neonatal epilepsyHP:0040282 - Frequent302
HP:0004305HP:0001336Myoclonus1KCNQ3 CL E G H37866297ORPHA:307Juvenile myoclonic epilepsy302
HP:0004305HP:0000733Motor stereotypy1KCNT1 CL E G H5758218865ORPHA:98784Autosomal dominant nocturnal frontal lobe epilepsyHP:0040282 - Frequent321
HP:0004305HP:0002169Clonus1KCNT1 CL E G H5758218865OMIM:614959Epileptic encephalopathy, early infantile, 14.321
HP:0004305HP:0001336Myoclonus1KCTD17 CL E G H7973425705OMIM:616398Dystonia 26, myoclonic.1
HP:0004305HP:0001336Myoclonus1KCTD17 CL E G H7973425705ORPHA:36899Myoclonus-dystonia syndromeHP:0040281 - Very frequent1
HP:0004305HP:0001336Myoclonus1KCTD7 CL E G H15488121957ORPHA:263516Progressive myoclonic epilepsy type 3HP:0040282 - Frequent106
HP:0004305HP:0002169Clonus1KDM1A CL E G H2302829079ORPHA:477993Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndromeHP:0040283 - Occasional3
HP:0004305HP:0001337Tremor1KIAA0586 CL E G H978619960ORPHA:475Joubert syndromeHP:0040283 - Occasional24
HP:0004305HP:0001337Tremor1KIAA0753 CL E G H985129110ORPHA:2754Orofaciodigital syndrome type 6HP:0040283 - Occasional4
HP:0004305HP:0000733Motor stereotypy1KIF15 CL E G H5699217273ORPHA:26132321q22.11q22.12 microdeletion syndrome
HP:0004305HP:0002169Clonus1KIF1A CL E G H547888OMIM:610357Spastic paraplegia 30, autosomal recessive276
HP:0004305HP:0001337Tremor1KIF1B CL E G H2309516636ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040283 - Occasional202
HP:0004305HP:0001336Myoclonus1KIF1B CL E G H2309516636OMIM:256700Neuroblastoma, susceptibility to.202
HP:0004305HP:0001336Myoclonus1KIF1C CL E G H107496317ORPHA:397946Autosomal spastic paraplegia type 5838
HP:0004305HP:0001337Tremor1KIF1C CL E G H107496317ORPHA:397946Autosomal spastic paraplegia type 58HP:0040282 - Frequent38
HP:0004305HP:0002072Chorea1KIF1C CL E G H107496317ORPHA:397946Autosomal spastic paraplegia type 58HP:0040282 - Frequent38
HP:0004305HP:0002169Clonus1KIF1C CL E G H107496317ORPHA:397946Autosomal spastic paraplegia type 58HP:0040282 - Frequent38
HP:0004305HP:0002380Fasciculations1KIF1C CL E G H107496317ORPHA:397946Autosomal spastic paraplegia type 58HP:0040281 - Very frequent38
HP:0004305HP:0001337Tremor1KIF1C CL E G H107496317OMIM:611302Spastic ataxia 2, autosomal recessive.38
HP:0004305HP:0002380Fasciculations1KIF1C CL E G H107496317OMIM:611302Spastic ataxia 2, autosomal recessive.38
HP:0004305HP:0002169Clonus1KIF5A CL E G H37986323ORPHA:100991Autosomal dominant spastic paraplegia type 1093
HP:0004305HP:0001336Myoclonus1KIF5A CL E G H37986323OMIM:617235Myoclonus, intractable, neonatal.93
HP:0004305HP:0002072Chorea1KIF5A CL E G H37986323OMIM:617235Myoclonus, intractable, neonatal.93
HP:0004305HP:0002305Athetosis1KIF5A CL E G H37986323OMIM:617235Myoclonus, intractable, neonatal.93
HP:0004305HP:0002169Clonus1KIF5A CL E G H37986323OMIM:604187Spastic paraplegia 10, autosomal dominant93
HP:0004305HP:0000733Motor stereotypy1KIF5C CL E G H38006325OMIM:615282CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2; CDCBM218
HP:0004305HP:0001337Tremor1KIF7 CL E G H37465430497ORPHA:2754Orofaciodigital syndrome type 6HP:0040283 - Occasional167
HP:0004305HP:0002169Clonus1KLC2 CL E G H6483720716OMIM:609541Spastic paraplegia, optic atrophy, and neuropathy1
HP:0004305HP:0000733Motor stereotypy1KMT2A CL E G H42977132ORPHA:319182Wiedemann-Steiner syndromeHP:0040282 - Frequent91
HP:0004305HP:0001336Myoclonus1KMT2B CL E G H975715840OMIM:617284Dystonia 28, childhood-onsetHP:0040283 - Occasional11
HP:0004305HP:0001337Tremor1KMT2B CL E G H975715840OMIM:617284Dystonia 28, childhood-onset11
HP:0004305HP:0000733Motor stereotypy1KMT5B CL E G H5111124283OMIM:617788Mental retardation, autosomal dominant 512
HP:0004305HP:0100033Tics1KMT5B CL E G H5111124283OMIM:617788Mental retardation, autosomal dominant 512
HP:0004305HP:0001337Tremor1KNSTRN CL E G H9041730767ORPHA:221139Combined immunodeficiency with faciooculoskeletal anomalies1
HP:0004305HP:0002169Clonus1KPNA3 CL E G H38396396ORPHA:171612Autosomal dominant spastic paraplegia type 37HP:0040283 - Occasional
HP:0004305HP:0000733Motor stereotypy1KPTN CL E G H111336404ORPHA:397612Macrocephaly-developmental delay syndromeHP:0040282 - Frequent13
HP:0004305HP:0000733Motor stereotypy1KPTN CL E G H111336404OMIM:615637Mental retardation, autosomal recessive 41.13
HP:0004305HP:0000733Motor stereotypy1KYNU CL E G H89426469ORPHA:79155HydroxykynureninuriaHP:0040282 - Frequent5
HP:0004305HP:0001337Tremor1LAMA1 CL E G H2842176481ORPHA:370022Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome35
HP:0004305HP:0000733Motor stereotypy1LARP7 CL E G H5157424912ORPHA:319671Alazami syndromeHP:0040282 - Frequent16
HP:0004305HP:0001337Tremor1LEMD2 CL E G H22149621244OMIM:619322MARBACH-RUSTAD PROGEROID SYNDROME; MARUPS1
HP:0004305HP:0001337Tremor1LEMD3 CL E G H2359228887ORPHA:9406312q14 microdeletion syndromeHP:0040282 - Frequent68
HP:0004305HP:0000733Motor stereotypy1LETM1 CL E G H39546556OMIM:194190Wolf-Hirschhorn syndrome2
HP:0004305HP:0002380Fasciculations1LGI3 CL E G H20319018711OMIM:620007
HP:0004305HP:0001336Myoclonus1LIAS CL E G H1101916429OMIM:614462Hyperglycinemia, lactic acidosis, and seizures.31
HP:0004305HP:0001336Myoclonus1LIG3 CL E G H39806600OMIM:619780MITOCHONDRIAL DNA DEPLETION SYNDROME 20 (MNGIE TYPE); MTDPS201
HP:0004305HP:0001337Tremor1LIMK1 CL E G H39846613ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0004305HP:0001337Tremor1LMAN2L CL E G H8156219263OMIM:6178631
HP:0004305HP:0001337Tremor1LMNB1 CL E G H40016637ORPHA:99027Adult-onset autosomal dominant leukodystrophyHP:0040282 - Frequent44
HP:0004305HP:0002169Clonus1LMNB1 CL E G H40016637ORPHA:99027Adult-onset autosomal dominant leukodystrophyHP:0040283 - Occasional44
HP:0004305HP:0000733Motor stereotypy1LMNB1 CL E G H40016637OMIM:619179MICROCEPHALY 26, PRIMARY, AUTOSOMAL DOMINANT; MCPH2644
HP:0004305HP:0001336Myoclonus1LMNB2 CL E G H848236638OMIM:616540Epilepsy, progressive myoclonic, 9.11
HP:0004305HP:0001337Tremor1LNPK CL E G H8085621610OMIM:618090Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum.
HP:0004305HP:0001337Tremor1LRP12 CL E G H2996731708OMIM:164310Oculopharyngodistal myopathy 1
HP:0004305HP:0002072Chorea1LRPPRC CL E G H1012815714ORPHA:70472Congenital lactic acidosis, Saguenay-Lac-Saint-Jean typeHP:0040282 - Frequent191
HP:0004305HP:0001337Tremor1LRPPRC CL E G H1012815714OMIM:220111Leigh syndrome, french Canadian type.191
HP:0004305HP:0001337Tremor1LRRK2 CL E G H12089218618ORPHA:411602Hereditary late-onset Parkinson disease221
HP:0004305HP:0001337Tremor1LRRK2 CL E G H12089218618OMIM:607060Parkinson disease 8, autosomal dominant221
HP:0004305HP:0001337Tremor1LRRK2 CL E G H12089218618ORPHA:2828Young-onset Parkinson diseaseHP:0040282 - Frequent221
HP:0004305HP:0002380Fasciculations1LRSAM1 CL E G H9067825135OMIM:614436Charcot-Marie-Tooth disease, axonal, type 2P.102
HP:0004305HP:0001337Tremor1LSM11 CL E G H13435330860ORPHA:51Aicardi-Goutières syndromeHP:0040283 - Occasional
HP:0004305HP:0000733Motor stereotypy1LUZP1 CL E G H779814985ORPHA:16061p36 deletion syndromeHP:0040282 - Frequent
HP:0004305HP:0001337Tremor1LYST CL E G H11301968ORPHA:167Chédiak-Higashi syndromeHP:0040283 - Occasional239
HP:0004305HP:0001337Tremor1LYST CL E G H11301968OMIM:214500Chediak-Higashi syndrome239
HP:0004305HP:0000733Motor stereotypy1MACF1 CL E G H2349913664ORPHA:572013Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome2
HP:0004305HP:0000733Motor stereotypy1MADD CL E G H85676766OMIM:619005NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA; NEDDISH5
HP:0004305HP:0001337Tremor1MAG CL E G H40996783ORPHA:459056Autosomal recessive spastic paraplegia type 754
HP:0004305HP:0001337Tremor1MAN1B1 CL E G H112536823ORPHA:397941MAN1B1-CDG93
HP:0004305HP:0001337Tremor1MAOA CL E G H41286833OMIM:300615Brunner syndrome22
HP:0004305HP:0100033Tics1MAPK1 CL E G H55946871ORPHA:261330Distal 22q11.2 microdeletion syndromeHP:0040283 - Occasional2
HP:0004305HP:0001336Myoclonus1MAPK10 CL E G H56026872ORPHA:2382Lennox-Gastaut syndromeHP:0040282 - Frequent61
HP:0004305HP:0000733Motor stereotypy1MAPT CL E G H41376893ORPHA:275864Behavioral variant of frontotemporal dementiaHP:0040281 - Very frequent140
HP:0004305HP:0002380Fasciculations1MAPT CL E G H41376893ORPHA:275864Behavioral variant of frontotemporal dementiaHP:0040283 - Occasional140
HP:0004305HP:0001337Tremor1MAPT CL E G H41376893ORPHA:240071Classic progressive supranuclear palsy syndromeHP:0040283 - Occasional140
HP:0004305HP:0001337Tremor1MAPT CL E G H41376893OMIM:168600Parkinson disease, late-onset.140
HP:0004305HP:0000733Motor stereotypy1MAPT CL E G H41376893OMIM:172700Pick disease of brain.140
HP:0004305HP:0001336Myoclonus1MAPT CL E G H41376893ORPHA:240103Progressive supranuclear palsy-corticobasal syndrome140
HP:0004305HP:0001337Tremor1MAPT CL E G H41376893ORPHA:240103Progressive supranuclear palsy-corticobasal syndromeHP:0040282 - Frequent140
HP:0004305HP:0001337Tremor1MAPT CL E G H41376893ORPHA:240085Progressive supranuclear palsy-parkinsonism syndromeHP:0040282 - Frequent140
HP:0004305HP:0001337Tremor1MAPT CL E G H41376893OMIM:260540Supranuclear palsy, progressive atypical.140
HP:0004305HP:0001337Tremor1MAPT CL E G H41376893OMIM:601104Supranuclear palsy, progressive, 1140
HP:0004305HP:0001336Myoclonus1MARCHF6 CL E G H1029930550ORPHA:86814Benign adult familial myoclonic epilepsyHP:0040281 - Very frequent
HP:0004305HP:0001337Tremor1MARCHF6 CL E G H1029930550ORPHA:86814Benign adult familial myoclonic epilepsy
HP:0004305HP:0001336Myoclonus1MARCHF6 CL E G H1029930550OMIM:613608Epilepsy, familial adult myoclonic, 3.HP:0003581 - Adult onset
HP:0004305HP:0001337Tremor1MARCHF6 CL E G H1029930550OMIM:613608Epilepsy, familial adult myoclonic, 3.
HP:0004305HP:0001337Tremor1MARS1 CL E G H41416898ORPHA:401835Autosomal recessive spastic paraplegia type 70
HP:0004305HP:0001337Tremor1MAX CL E G H41496913ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040283 - Occasional84
HP:0004305HP:0000733Motor stereotypy1MBD5 CL E G H5577720444ORPHA:2284022q23.1 microdeletion syndromeHP:0040281 - Very frequent252
HP:0004305HP:0000733Motor stereotypy1MBD5 CL E G H5577720444OMIM:156200Mental retardation, autosomal dominant 1252
HP:0004305HP:0001337Tremor1MDH2 CL E G H41916971ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040283 - Occasional4
HP:0004305HP:0000733Motor stereotypy1MECP2 CL E G H42046990ORPHA:3095Atypical Rett syndrome950
HP:0004305HP:0001336Myoclonus1MECP2 CL E G H42046990ORPHA:3095Atypical Rett syndrome950
HP:0004305HP:0001337Tremor1MECP2 CL E G H42046990ORPHA:3095Atypical Rett syndromeHP:0040283 - Occasional950
HP:0004305HP:0000733Motor stereotypy1MECP2 CL E G H42046990OMIM:300496Autism susceptibility, X-linked 3.950
HP:0004305HP:0001336Myoclonus1MECP2 CL E G H42046990OMIM:300673Encephalopathy, neonatal severe, due to mecp2 mutations.950
HP:0004305HP:0000733Motor stereotypy1MECP2 CL E G H42046990OMIM:300260Mental retardation, x-linked syndromic, Lubs type950
HP:0004305HP:0002072Chorea1MECP2 CL E G H42046990OMIM:300260Mental retardation, x-linked syndromic, Lubs type950
HP:0004305HP:0001337Tremor1MECP2 CL E G H42046990OMIM:300055Mental retardation, X-linked, syndromic 13950
HP:0004305HP:0002072Chorea1MECP2 CL E G H42046990OMIM:300055Mental retardation, X-linked, syndromic 13950
HP:0004305HP:0002305Athetosis1MECP2 CL E G H42046990OMIM:300055Mental retardation, X-linked, syndromic 13950
HP:0004305HP:0000733Motor stereotypy1MECP2 CL E G H42046990OMIM:312750Rett syndrome950
HP:0004305HP:0000733Motor stereotypy1MECP2 CL E G H42046990ORPHA:778Rett syndromeHP:0040281 - Very frequent950
HP:0004305HP:0001337Tremor1MECP2 CL E G H42046990ORPHA:3077X-linked intellectual disability-psychosis-macroorchidism syndromeHP:0040282 - Frequent950
HP:0004305HP:0001336Myoclonus1MECR CL E G H5110219691OMIM:617282Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities.6
HP:0004305HP:0002072Chorea1MECR CL E G H5110219691OMIM:617282Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities.6
HP:0004305HP:0002305Athetosis1MECR CL E G H5110219691OMIM:617282Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities6
HP:0004305HP:0007166Paroxysmal dyskinesia1MECR CL E G H5110219691OMIM:617282Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities6
HP:0004305HP:0001336Myoclonus1MECR CL E G H5110219691ORPHA:508093MEPAN syndrome6
HP:0004305HP:0002072Chorea1MECR CL E G H5110219691ORPHA:508093MEPAN syndrome6
HP:0004305HP:0002169Clonus1MED17 CL E G H94402375OMIM:613668Microcephaly, postnatal progressive, with seizures and brain atrophy.23
HP:0004305HP:0002072Chorea1MED23 CL E G H94392372OMIM:614249Mental retardation, autosomal recessive 1825
HP:0004305HP:0002305Athetosis1MED23 CL E G H94392372OMIM:614249Mental retardation, autosomal recessive 1825
HP:0004305HP:0000733Motor stereotypy1MEF2C CL E G H42086996ORPHA:2283845q14.3 microdeletion syndromeHP:0040282 - Frequent132
HP:0004305HP:0000733Motor stereotypy1MEF2C CL E G H42086996OMIM:613443Mental retardation, autosomal dominant 20132
HP:0004305HP:0002380Fasciculations1MEGF10 CL E G H8446629634OMIM:614399Myopathy, areflexia, respiratory distress, and dysphagia, early-onset158
HP:0004305HP:0001337Tremor1MEN1 CL E G H42217010ORPHA:97279InsulinomaHP:0040281 - Very frequent462
HP:0004305HP:0001337Tremor1METTL27 CL E G H15536819068ORPHA:904Williams syndromeHP:0040281 - Very frequent1
HP:0004305HP:0001337Tremor1MFN2 CL E G H992716877ORPHA:99947Autosomal dominant Charcot-Marie-Tooth disease type 2A2203
HP:0004305HP:0001337Tremor1MFN2 CL E G H992716877OMIM:609260Charcot-marie-tooth disease, axonal, type 2A2AHP:0040283 - Occasional203
HP:0004305HP:0000733Motor stereotypy1MGAT2 CL E G H42477045OMIM:212066Congenital disorder of glycosylation, type IIa.39
HP:0004305HP:0000733Motor stereotypy1MGAT2 CL E G H42477045ORPHA:79329MGAT2-CDG39
HP:0004305HP:0002072Chorea1MICOS13 CL E G H12598833702ORPHA:670473-methylglutaconic aciduria type 3
HP:0004305HP:0002305Athetosis1MICOS13 CL E G H12598833702ORPHA:670473-methylglutaconic aciduria type 3
HP:0004305HP:0001337Tremor1MICU1 CL E G H103671530OMIM:615673Myopathy with extrapyramidal signs14
HP:0004305HP:0002072Chorea1MICU1 CL E G H103671530OMIM:615673Myopathy with extrapyramidal signs14
HP:0004305HP:0002169Clonus1MICU1 CL E G H103671530OMIM:615673Myopathy with extrapyramidal signs14
HP:0004305HP:0002305Athetosis1MICU1 CL E G H103671530OMIM:615673Myopathy with extrapyramidal signs14
HP:0004305HP:0001337Tremor1MICU1 CL E G H103671530ORPHA:401768Proximal myopathy with extrapyramidal signs14
HP:0004305HP:0002072Chorea1MICU1 CL E G H103671530ORPHA:401768Proximal myopathy with extrapyramidal signsHP:0040282 - Frequent14
HP:0004305HP:0001336Myoclonus1MINPP1 CL E G H95627102ORPHA:284339Pontocerebellar hypoplasia type 7HP:0040283 - Occasional3
HP:0004305HP:0002380Fasciculations1MINPP1 CL E G H95627102ORPHA:284339Pontocerebellar hypoplasia type 7HP:0040282 - Frequent3
HP:0004305HP:0001337Tremor1MKS1 CL E G H549037121ORPHA:475Joubert syndromeHP:0040283 - Occasional127
HP:0004305HP:0001337Tremor1MKS1 CL E G H549037121ORPHA:220493Joubert syndrome with ocular defectHP:0040283 - Occasional127
HP:0004305HP:0001337Tremor1MLXIPL CL E G H5108512744ORPHA:904Williams syndromeHP:0040281 - Very frequent1
HP:0004305HP:0001337Tremor1MMAA CL E G H16678518871OMIM:251100Methylmalonic aciduria, Cbla type.113
HP:0004305HP:0001337Tremor1MMACHC CL E G H2597424525OMIM:277400Methylmalonic aciduria and homocystinuria, Cblc type.101
HP:0004305HP:0001337Tremor1MME CL E G H43117154OMIM:617018SPINOCEREBELLAR ATAXIA 43; SCA4318
HP:0004305HP:0000733Motor stereotypy1MMP23B CL E G H85107171ORPHA:16061p36 deletion syndromeHP:0040282 - Frequent
HP:0004305HP:0002072Chorea1MMUT CL E G H45947526ORPHA:79312Vitamin B12-unresponsive methylmalonic acidemia type mut-
HP:0004305HP:0002305Athetosis1MMUT CL E G H45947526ORPHA:79312Vitamin B12-unresponsive methylmalonic acidemia type mut-
HP:0004305HP:0002072Chorea1MMUT CL E G H45947526ORPHA:289916Vitamin B12-unresponsive methylmalonic acidemia type mut0HP:0040283 - Occasional
HP:0004305HP:0002305Athetosis1MMUT CL E G H45947526ORPHA:289916Vitamin B12-unresponsive methylmalonic acidemia type mut0
HP:0004305HP:0001336Myoclonus1MOCS1 CL E G H43377190OMIM:252150Molybdenum cofactor deficiency, complementation group A96
HP:0004305HP:0001336Myoclonus1MOCS2 CL E G H43387193OMIM:252160Molybdenum cofactor deficiency, complementation group B26
HP:0004305HP:0001337Tremor1MORC2 CL E G H2288023573ORPHA:466768Autosomal dominant Charcot-Marie-Tooth disease type 2ZHP:0040282 - Frequent8
HP:0004305HP:0002380Fasciculations1MORC2 CL E G H2288023573ORPHA:466768Autosomal dominant Charcot-Marie-Tooth disease type 2ZHP:0040283 - Occasional8
HP:0004305HP:0002380Fasciculations1MORC2 CL E G H2288023573OMIM:616688Charcot-Marie-Tooth disease, axonal, type 2Z.8
HP:0004305HP:0001337Tremor1MPLKIP CL E G H13664716002ORPHA:33364Trichothiodystrophy9
HP:0004305HP:0002380Fasciculations1MPZ CL E G H43597225OMIM:145900Hypertrophic neuropathy of dejerine-sottas134
HP:0004305HP:0001337Tremor1MPZ CL E G H43597225ORPHA:3115Roussy-Lévy syndrome134
HP:0004305HP:0001337Tremor1MPZ CL E G H43597225OMIM:180800Roussy-Levy hereditary areflexic dystasia134
HP:0004305HP:0001336Myoclonus1MRE11 CL E G H43617230ORPHA:251347Ataxia-telangiectasia-like disorderHP:0040283 - Occasional532
HP:0004305HP:0001337Tremor1MRE11 CL E G H43617230ORPHA:251347Ataxia-telangiectasia-like disorder532
HP:0004305HP:0002072Chorea1MRE11 CL E G H43617230ORPHA:251347Ataxia-telangiectasia-like disorderHP:0040282 - Frequent532
HP:0004305HP:0002072Chorea1MRE11 CL E G H43617230OMIM:604391Ataxia-Telangiectasia-Like disorder 1.532
HP:0004305HP:0100248Hemiballismus1MRM2 CL E G H2996016352OMIM:618567MITOCHONDRIAL DNA DEPLETION SYNDROME 17; MTDPS17
HP:0004305HP:0002072Chorea1MRM2 CL E G H2996016352OMIM:618567MITOCHONDRIAL DNA DEPLETION SYNDROME 17; MTDPS17
HP:0004305HP:0001337Tremor1MRPL12 CL E G H618210378OMIM:618951COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 45; COXPD4511
HP:0004305HP:0001337Tremor1MRPS34 CL E G H6599316618OMIM:617664Combined oxidative phosphorylation deficiency 321
HP:0004305HP:0002072Chorea1MRPS34 CL E G H6599316618OMIM:617664Combined oxidative phosphorylation deficiency 321
HP:0004305HP:0002305Athetosis1MRPS34 CL E G H6599316618OMIM:617664Combined oxidative phosphorylation deficiency 321
HP:0004305HP:0001337Tremor1MSTO1 CL E G H5515429678ORPHA:502423Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndromeHP:0040282 - Frequent
HP:0004305HP:0001337Tremor1MSTO1 CL E G H5515429678OMIM:617675Myopathy, mitochondrial, and ataxia.
HP:0004305HP:0001337Tremor1MTFMT CL E G H12326329666OMIM:614947Combined oxidative phosphorylation deficiency 15HP:0040283 - Occasional29
HP:0004305HP:0001336Myoclonus1MTOR CL E G H24753942ORPHA:99802HemimegalencephalyHP:0040283 - Occasional68
HP:0004305HP:0001336Myoclonus1MTPAP CL E G H5514925532ORPHA:254343Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndromeHP:0040282 - Frequent19
HP:0004305HP:0002169Clonus1MTRFR CL E G H9157426784OMIM:615035Spastic paraplegia 55, autosomal recessive.
HP:0004305HP:0001337Tremor1MYBPC1 CL E G H46047549OMIM:618524MYOPATHY, CONGENITAL, WITH TREMOR; MYOTREM66
HP:0004305HP:0001337Tremor1MYH14 CL E G H7978423212OMIM:614369Peripheral neuropathy, myopathy, hoarseness, and hearing loss.227
HP:0004305HP:0001337Tremor1MYH14 CL E G H7978423212ORPHA:397744Peripheral neuropathy-myopathy-hoarseness-hearing loss syndromeHP:0040283 - Occasional227
HP:0004305HP:0001337Tremor1MYL2 CL E G H46337583OMIM:619424MYOPATHY, MYOFIBRILLAR, 12, INFANTILE-ONSET, WITH CARDIOMYOPATHY; MFM12131
HP:0004305HP:0002169Clonus1MYL2 CL E G H46337583OMIM:619424MYOPATHY, MYOFIBRILLAR, 12, INFANTILE-ONSET, WITH CARDIOMYOPATHY; MFM12131
HP:0004305HP:0001337Tremor1MYO5A CL E G H46447602ORPHA:33445Neuroectodermal melanolysosomal diseaseHP:0040282 - Frequent35
HP:0004305HP:0002072Chorea1MYORG CL E G H5746219918OMIM:618317Basal ganglia calcification, idiopathic, 7, autosomal recessive.
HP:0004305HP:0001337Tremor1MYOT CL E G H949912399OMIM:182920Myopathy, spheroid body.75
HP:0004305HP:0000733Motor stereotypy1NAA10 CL E G H826018704OMIM:300855Ogden syndrome.23
HP:0004305HP:0000733Motor stereotypy1NAA15 CL E G H8015530782OMIM:617787MENTAL RETARDATION, AUTOSOMAL DOMINANT 50; MRD501
HP:0004305HP:0000733Motor stereotypy1NAA20 CL E G H5112615908OMIM:619717INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 73; MRT73
HP:0004305HP:0000733Motor stereotypy1NACC1 CL E G H11293920967OMIM:617393Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination.1
HP:0004305HP:0000733Motor stereotypy1NACC1 CL E G H11293920967ORPHA:500545Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract1
HP:0004305HP:0002072Chorea1NADK2 CL E G H13368626404OMIM:6160342,4-Dienoyl-Coa reductase deficiency14
HP:0004305HP:0002305Athetosis1NADK2 CL E G H13368626404OMIM:6160342,4-Dienoyl-Coa reductase deficiency14
HP:0004305HP:0002072Chorea1NADK2 CL E G H13368626404ORPHA:431361Progressive encephalopathy with leukodystrophy due to DECR deficiency14
HP:0004305HP:0002305Athetosis1NADK2 CL E G H13368626404ORPHA:431361Progressive encephalopathy with leukodystrophy due to DECR deficiency14
HP:0004305HP:0001336Myoclonus1NAGA CL E G H46687631ORPHA:79279Alpha-N-acetylgalactosaminidase deficiency type 1HP:0040282 - Frequent47
HP:0004305HP:0001336Myoclonus1NAGA CL E G H46687631OMIM:609241Schindler disease, type I.47
HP:0004305HP:0000733Motor stereotypy1NAGS CL E G H16241717996ORPHA:927Hyperammonemia due to N-acetylglutamate synthase deficiencyHP:0040284 - Very rare36
HP:0004305HP:0000733Motor stereotypy1NAPB CL E G H6390815751OMIM:6200332
HP:0004305HP:0000733Motor stereotypy1NARS1 CL E G H46777643OMIM:619092NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, EPILEPSY, AND GAIT ABNORMALITIES; NEDMILEG
HP:0004305HP:0001336Myoclonus1NARS1 CL E G H46777643OMIM:619092NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, EPILEPSY, AND GAIT ABNORMALITIES; NEDMILEG
HP:0004305HP:0001337Tremor1NARS1 CL E G H46777643OMIM:619092NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, EPILEPSY, AND GAIT ABNORMALITIES; NEDMILEG
HP:0004305HP:0000733Motor stereotypy1NAT8L CL E G H33998326742OMIM:614063N-ACETYLASPARTATE DEFICIENCY.1
HP:0004305HP:0001336Myoclonus1NAXD CL E G H5573925576OMIM:618321Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2
HP:0004305HP:0002072Chorea1NAXD CL E G H5573925576OMIM:618321Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2.
HP:0004305HP:0001337Tremor1NAXE CL E G H12824018453OMIM:617186Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1.9
HP:0004305HP:0001337Tremor1NCF1 CL E G H6533617660ORPHA:904Williams syndromeHP:0040281 - Very frequent13
HP:0004305HP:0001337Tremor1ND1 CL E G H45357455ORPHA:104Leber hereditary optic neuropathy
HP:0004305HP:0001337Tremor1ND1 CL E G H45357455OMIM:535000Leber optic atrophy
HP:0004305HP:0001336Myoclonus1ND1 CL E G H45357455ORPHA:550MELASHP:0040282 - Frequent
HP:0004305HP:0002072Chorea1ND1 CL E G H45357455ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040282 - Frequent
HP:0004305HP:0001337Tremor1ND2 CL E G H45367456ORPHA:104Leber hereditary optic neuropathy
HP:0004305HP:0001337Tremor1ND2 CL E G H45367456OMIM:535000Leber optic atrophy
HP:0004305HP:0002072Chorea1ND2 CL E G H45367456ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040282 - Frequent
HP:0004305HP:0002072Chorea1ND3 CL E G H45377458ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040282 - Frequent
HP:0004305HP:0001337Tremor1ND4 CL E G H45387459ORPHA:104Leber hereditary optic neuropathy
HP:0004305HP:0001337Tremor1ND4 CL E G H45387459OMIM:535000Leber optic atrophy
HP:0004305HP:0001336Myoclonus1ND4 CL E G H45387459ORPHA:550MELASHP:0040282 - Frequent
HP:0004305HP:0002072Chorea1ND4 CL E G H45387459ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040282 - Frequent
HP:0004305HP:0001337Tremor1ND4L CL E G H45397460ORPHA:104Leber hereditary optic neuropathy
HP:0004305HP:0001337Tremor1ND4L CL E G H45397460OMIM:535000Leber optic atrophy
HP:0004305HP:0001337Tremor1ND5 CL E G H45407461ORPHA:104Leber hereditary optic neuropathy
HP:0004305HP:0001337Tremor1ND5 CL E G H45407461OMIM:535000Leber optic atrophy
HP:0004305HP:0001336Myoclonus1ND5 CL E G H45407461ORPHA:550MELASHP:0040282 - Frequent
HP:0004305HP:0002072Chorea1ND5 CL E G H45407461ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040282 - Frequent
HP:0004305HP:0001337Tremor1ND6 CL E G H45417462ORPHA:104Leber hereditary optic neuropathy
HP:0004305HP:0001337Tremor1ND6 CL E G H45417462OMIM:535000Leber optic atrophy
HP:0004305HP:0001336Myoclonus1ND6 CL E G H45417462ORPHA:550MELASHP:0040282 - Frequent
HP:0004305HP:0002072Chorea1ND6 CL E G H45417462ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040282 - Frequent
HP:0004305HP:0002305Athetosis1NDE1 CL E G H5482017619OMIM:605013MICROHYDRANENCEPHALY.96
HP:0004305HP:0001337Tremor1NDNF CL E G H7962526256ORPHA:478Kallmann syndromeHP:0040283 - Occasional
HP:0004305HP:0000733Motor stereotypy1NDP CL E G H46937678ORPHA:649Norrie diseaseHP:0040282 - Frequent39
HP:0004305HP:0002169Clonus1NDP CL E G H46937678ORPHA:649Norrie diseaseHP:0040283 - Occasional39
HP:0004305HP:0001337Tremor1NDRG1 CL E G H103977679ORPHA:99950Charcot-Marie-Tooth disease type 4D82
HP:0004305HP:0002072Chorea1NDUFA1 CL E G H46947683OMIM:301020Mitochondrial complex I deficiency, nuclear type 127
HP:0004305HP:0002305Athetosis1NDUFA1 CL E G H46947683OMIM:301020Mitochondrial complex I deficiency, nuclear type 127
HP:0004305HP:0002072Chorea1NDUFA13 CL E G H5107917194OMIM:618249Mitochondrial complex I deficiency, nuclear type 283
HP:0004305HP:0002305Athetosis1NDUFA13 CL E G H5107917194OMIM:618249Mitochondrial complex I deficiency, nuclear type 283
HP:0004305HP:0001336Myoclonus1NDUFA4 CL E G H46977687OMIM:619065MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 21; MC4DN214
HP:0004305HP:0002072Chorea1NDUFA9 CL E G H47047693OMIM:618247Mitochondrial complex I deficiency, nuclear type 2627
HP:0004305HP:0002305Athetosis1NDUFA9 CL E G H47047693OMIM:618247Mitochondrial complex I deficiency, nuclear type 2627
HP:0004305HP:0002072Chorea1NDUFAF3 CL E G H2591529918ORPHA:70474Leigh syndrome with cardiomyopathyHP:0040283 - Occasional31
HP:0004305HP:0001336Myoclonus1NDUFAF3 CL E G H2591529918OMIM:618240Mitochondrial complex I deficiency, nuclear type 18.31
HP:0004305HP:0002072Chorea1NDUFAF5 CL E G H7913315899OMIM:618238Mitochondrial complex I deficiency, nuclear type 1634
HP:0004305HP:0002305Athetosis1NDUFAF5 CL E G H7913315899OMIM:618238Mitochondrial complex I deficiency, nuclear type 1634
HP:0004305HP:0002072Chorea1NDUFB8 CL E G H47147703ORPHA:70474Leigh syndrome with cardiomyopathyHP:0040283 - Occasional
HP:0004305HP:0001337Tremor1NDUFS2 CL E G H47207708ORPHA:104Leber hereditary optic neuropathy65
HP:0004305HP:0002072Chorea1NDUFS2 CL E G H47207708ORPHA:70474Leigh syndrome with cardiomyopathyHP:0040283 - Occasional65
HP:0004305HP:0002380Fasciculations1NDUFS4 CL E G H47247711OMIM:252010Mitochondrial complex I deficiency, nuclear type 127
HP:0004305HP:0002169Clonus1NDUFS8 CL E G H47287715OMIM:618222Mitochondrial complex I deficiency, nuclear type 242
HP:0004305HP:0001336Myoclonus1NDUFV1 CL E G H47237716OMIM:618225Mitochondrial complex I deficiency, nuclear type 4.74
HP:0004305HP:0001336Myoclonus1NECAP1 CL E G H2597724539ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional1
HP:0004305HP:0001337Tremor1NECAP1 CL E G H2597724539ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional1
HP:0004305HP:0002380Fasciculations1NEFH CL E G H47447737OMIM:105400Amyotrophic lateral sclerosis 1.24
HP:0004305HP:0001337Tremor1NEFL CL E G H47477739ORPHA:101085Charcot-Marie-Tooth disease type 1F118
HP:0004305HP:0002380Fasciculations1NEFL CL E G H47477739ORPHA:101085Charcot-Marie-Tooth disease type 1FHP:0040283 - Occasional118
HP:0004305HP:0001337Tremor1NEFL CL E G H47477739OMIM:607734Charcot-Marie-Tooth disease, demyelinating, type 1F118
HP:0004305HP:0001337Tremor1NEMF CL E G H914710663OMIM:619099INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY AND AXONAL PERIPHERAL NEUROPATHY; IDDSAPN1
HP:0004305HP:0001336Myoclonus1NEU1 CL E G H47587758ORPHA:93400Congenital sialidosis type 2HP:0040283 - Occasional43
HP:0004305HP:0001336Myoclonus1NEU1 CL E G H47587758ORPHA:93399Juvenile sialidosis type 2HP:0040283 - Occasional43
HP:0004305HP:0001336Myoclonus1NEU1 CL E G H47587758OMIM:256550Neuraminidase deficiency.43
HP:0004305HP:0001336Myoclonus1NEU1 CL E G H47587758ORPHA:812Sialidosis type 1HP:0040281 - Very frequent43
HP:0004305HP:0001337Tremor1NEU1 CL E G H47587758ORPHA:812Sialidosis type 1HP:0040282 - Frequent43
HP:0004305HP:0001336Myoclonus1NEUROD2 CL E G H47617763ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional
HP:0004305HP:0001337Tremor1NEUROD2 CL E G H47617763ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional
HP:0004305HP:0002072Chorea1NEUROD2 CL E G H47617763ORPHA:1934Early infantile epileptic encephalopathy
HP:0004305HP:0002305Athetosis1NEUROD2 CL E G H47617763ORPHA:1934Early infantile epileptic encephalopathy
HP:0004305HP:0000733Motor stereotypy1NEXMIF CL E G H34053329433OMIM:300912Mental retardation, X-linked 9852
HP:0004305HP:0001337Tremor1NEXMIF CL E G H34053329433ORPHA:1942Myoclonic-astatic epilepsyHP:0040283 - Occasional52
HP:0004305HP:0000733Motor stereotypy1NEXMIF CL E G H34053329433ORPHA:85277X-linked intellectual disability, Cantagrel typeHP:0040281 - Very frequent52
HP:0004305HP:0001337Tremor1NF1 CL E G H47637765ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040283 - Occasional1952
HP:0004305HP:0001336Myoclonus1NF2 CL E G H47717773ORPHA:2495Meningioma220
HP:0004305HP:0001336Myoclonus1NFASC CL E G H2311429866OMIM:618356Neurodevelopmental disorder with central and peripheral motor dysfunction.
HP:0004305HP:0001337Tremor1NFASC CL E G H2311429866OMIM:618356Neurodevelopmental disorder with central and peripheral motor dysfunction
HP:0004305HP:0001337Tremor1NFE2L2 CL E G H47807782OMIM:617744Immunodeficiency, developmental delay, and hypohomocysteinemia20
HP:0004305HP:0001336Myoclonus1NFU1 CL E G H2724716287OMIM:605711Multiple mitochondrial dysfunctions syndrome 134
HP:0004305HP:0001336Myoclonus1NGLY1 CL E G H5576817646ORPHA:404454Alacrimia-choreoathetosis-liver dysfunction syndromeHP:0040283 - Occasional32
HP:0004305HP:0001337Tremor1NGLY1 CL E G H5576817646ORPHA:404454Alacrimia-choreoathetosis-liver dysfunction syndrome32
HP:0004305HP:0002072Chorea1NGLY1 CL E G H5576817646ORPHA:404454Alacrimia-choreoathetosis-liver dysfunction syndromeHP:0040283 - Occasional32
HP:0004305HP:0002305Athetosis1NGLY1 CL E G H5576817646ORPHA:404454Alacrimia-choreoathetosis-liver dysfunction syndromeHP:0040283 - Occasional32
HP:0004305HP:0001336Myoclonus1NGLY1 CL E G H5576817646OMIM:615273Congenital disorder of deglycosylation.32
HP:0004305HP:0001337Tremor1NGLY1 CL E G H5576817646OMIM:615273Congenital disorder of deglycosylation32
HP:0004305HP:0002072Chorea1NGLY1 CL E G H5576817646OMIM:615273Congenital disorder of deglycosylation32
HP:0004305HP:0002305Athetosis1NGLY1 CL E G H5576817646OMIM:615273Congenital disorder of deglycosylation32
HP:0004305HP:0001336Myoclonus1NHLRC1 CL E G H37888421576ORPHA:501Lafora diseaseHP:0040283 - Occasional77
HP:0004305HP:0001336Myoclonus1NHLRC1 CL E G H37888421576OMIM:254780Myoclonic epilepsy of lafora.77
HP:0004305HP:0001336Myoclonus1NHLRC2 CL E G H37435424731OMIM:618278Fibrosis, neurodegeneration, and cerebral angiomatosis
HP:0004305HP:0001337Tremor1NIPA1 CL E G H12360617043ORPHA:100988Autosomal dominant spastic paraplegia type 6117
HP:0004305HP:0001337Tremor1NIPA1 CL E G H12360617043OMIM:600363Spastic paraplegia 6, autosomal dominantHP:0040283 - Occasional117
HP:0004305HP:0002169Clonus1NIPA1 CL E G H12360617043OMIM:600363Spastic paraplegia 6, autosomal dominant.117
HP:0004305HP:0001336Myoclonus1NKX2-1 CL E G H708011825ORPHA:209905Brain-lung-thyroid syndromeHP:0040283 - Occasional51
HP:0004305HP:0001337Tremor1NKX2-1 CL E G H708011825ORPHA:209905Brain-lung-thyroid syndrome51
HP:0004305HP:0002072Chorea1NKX2-1 CL E G H708011825ORPHA:209905Brain-lung-thyroid syndromeHP:0040282 - Frequent51
HP:0004305HP:0002305Athetosis1NKX2-1 CL E G H708011825ORPHA:209905Brain-lung-thyroid syndrome51
HP:0004305HP:0002072Chorea1NKX2-1 CL E G H708011825OMIM:118700Chorea, benign hereditary.51
HP:0004305HP:0002072Chorea1NKX2-1 CL E G H708011825OMIM:610978Choreoathetosis, hypothyroidism, and neonatal respiratory distress51
HP:0004305HP:0002305Athetosis1NKX2-1 CL E G H708011825OMIM:610978Choreoathetosis, hypothyroidism, and neonatal respiratory distress51
HP:0004305HP:0001337Tremor1NKX6-2 CL E G H8450419321ORPHA:527497NKX6-2-related autosomal recessive hypomyelinating leukodystrophy2
HP:0004305HP:0001337Tremor1NKX6-2 CL E G H8450419321OMIM:617560Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy2
HP:0004305HP:0000733Motor stereotypy1NLGN3 CL E G H5441314289OMIM:300494Asperger syndrome, X-linked, susceptibility to, 1.24
HP:0004305HP:0000733Motor stereotypy1NLGN3 CL E G H5441314289OMIM:300425Autism susceptibility, X-linked 1.24
HP:0004305HP:0000733Motor stereotypy1NLGN4X CL E G H5750214287OMIM:300497Asperger syndrome susceptibility, X-linked 2.57
HP:0004305HP:0000733Motor stereotypy1NLGN4X CL E G H5750214287OMIM:300495Autism, susceptibility to, X-linked 2.57
HP:0004305HP:0000733Motor stereotypy1NMNAT1 CL E G H6480217877OMIM:608553Leber congenital amaurosis 915
HP:0004305HP:0001336Myoclonus1NOL3 CL E G H89967869OMIM:614937Myoclonus, familial cortical.1
HP:0004305HP:0001337Tremor1NONO CL E G H48417871ORPHA:466791Macrocephaly-intellectual disability-left ventricular non compaction syndrome10
HP:0004305HP:0001337Tremor1NONO CL E G H48417871OMIM:300967MENTAL RETARDATION, X-LINKED, SYNDROMIC 34; MRXS3410
HP:0004305HP:0002380Fasciculations1NOP56 CL E G H1052815911OMIM:614153Spinocerebellar ataxia 369
HP:0004305HP:0001336Myoclonus1NOP56 CL E G H1052815911ORPHA:276198Spinocerebellar ataxia type 369
HP:0004305HP:0001337Tremor1NOP56 CL E G H1052815911ORPHA:276198Spinocerebellar ataxia type 369
HP:0004305HP:0002380Fasciculations1NOP56 CL E G H1052815911ORPHA:276198Spinocerebellar ataxia type 36HP:0040282 - Frequent9
HP:0004305HP:0001337Tremor1NOTCH2NLC CL E G H10099671753924OMIM:603472NEURONAL INTRANUCLEAR INCLUSION DISEASE
HP:0004305HP:0001337Tremor1NOTCH2NLC CL E G H10099671753924OMIM:619473OCULOPHARYNGODISTAL MYOPATHY 3; OPDM3
HP:0004305HP:0001337Tremor1NOTCH2NLC CL E G H10099671753924OMIM:618866TREMOR, HEREDITARY ESSENTIAL, 6; ETM6
HP:0004305HP:0000733Motor stereotypy1NOVA2 CL E G H48587887OMIM:618859Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities
HP:0004305HP:0000733Motor stereotypy1NPC2 CL E G H1057714537OMIM:607625Niemann-pick disease, type C2.33
HP:0004305HP:0001337Tremor1NPHP1 CL E G H48677905ORPHA:220497Joubert syndrome with renal defectHP:0040283 - Occasional85
HP:0004305HP:0001337Tremor1NR1H4 CL E G H99717967ORPHA:69665Intrahepatic cholestasis of pregnancyHP:0040284 - Very rare14
HP:0004305HP:0000733Motor stereotypy1NR2F1 CL E G H70257975ORPHA:401777Optic atrophy-intellectual disability syndrome37
HP:0004305HP:0001337Tremor1NR4A2 CL E G H49297981OMIM:61991127
HP:0004305HP:0001337Tremor1NR4A2 CL E G H49297981ORPHA:98808Autosomal dominant dopa-responsive dystonia27
HP:0004305HP:0001337Tremor1NR4A2 CL E G H49297981OMIM:168600Parkinson disease, late-onset.27
HP:0004305HP:0001337Tremor1NSD1 CL E G H6432414234ORPHA:821Sotos syndromeHP:0040283 - Occasional544
HP:0004305HP:0000733Motor stereotypy1NSD2 CL E G H746812766OMIM:619695RAUCH-STEINDL SYNDROME; RAUST118
HP:0004305HP:0000733Motor stereotypy1NSD2 CL E G H746812766OMIM:194190Wolf-Hirschhorn syndrome118
HP:0004305HP:0000733Motor stereotypy1NTNG1 CL E G H2285423319ORPHA:3095Atypical Rett syndrome1
HP:0004305HP:0001336Myoclonus1NTNG1 CL E G H2285423319ORPHA:3095Atypical Rett syndrome1
HP:0004305HP:0001337Tremor1NTNG1 CL E G H2285423319ORPHA:3095Atypical Rett syndromeHP:0040283 - Occasional1
HP:0004305HP:0000733Motor stereotypy1NTNG2 CL E G H8462814288OMIM:618718NEURODEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES, ABSENT SPEECH, AND HYPOTONIA; NEDBASH
HP:0004305HP:0001337Tremor1NTNG2 CL E G H8462814288OMIM:618718NEURODEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES, ABSENT SPEECH, AND HYPOTONIA; NEDBASH
HP:0004305HP:0000733Motor stereotypy1NTRK2 CL E G H49158032OMIM:617830EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 58; EIEE588
HP:0004305HP:0001336Myoclonus1NTRK2 CL E G H49158032ORPHA:3451Infantile spasms syndromeHP:0040281 - Very frequent8
HP:0004305HP:0001336Myoclonus1NTRK2 CL E G H49158032ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional8
HP:0004305HP:0001337Tremor1NTRK2 CL E G H49158032ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional8
HP:0004305HP:0000733Motor stereotypy1NTRK2 CL E G H49158032OMIM:613886Obesity, hyperphagia, and developmental delay.8
HP:0004305HP:0001336Myoclonus1NUP214 CL E G H80218064OMIM:618426Encephalopathy, acute, infection-induced, susceptibility to, 9.1
HP:0004305HP:0001336Myoclonus1NUP62 CL E G H236368066ORPHA:225154Familial infantile bilateral striatal necrosisHP:0040283 - Occasional7
HP:0004305HP:0002072Chorea1NUP62 CL E G H236368066ORPHA:225154Familial infantile bilateral striatal necrosis7
HP:0004305HP:0002305Athetosis1NUP62 CL E G H236368066ORPHA:225154Familial infantile bilateral striatal necrosis7
HP:0004305HP:0002072Chorea1NUP62 CL E G H236368066OMIM:271930Striatonigral degeneration, infantile7
HP:0004305HP:0002305Athetosis1NUP62 CL E G H236368066OMIM:271930Striatonigral degeneration, infantile7
HP:0004305HP:0001337Tremor1NUS1 CL E G H11615021042OMIM:617831MENTAL RETARDATION, AUTOSOMAL DOMINANT 55, WITH SEIZURES; MRD551
HP:0004305HP:0001336Myoclonus1NUS1 CL E G H11615021042ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional1
HP:0004305HP:0001337Tremor1NUS1 CL E G H11615021042ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional1
HP:0004305HP:0001337Tremor1NUTM2B-AS1 CL E G H10106069151204OMIM:618637OCULOPHARYNGEAL MYOPATHY WITH LEUKOENCEPHALOPATHY 1; OPML1
HP:0004305HP:0000733Motor stereotypy1OCA2 CL E G H49488101ORPHA:98794Angelman syndrome due to maternal 15q11q13 deletion121
HP:0004305HP:0001336Myoclonus1OCA2 CL E G H49488101ORPHA:98794Angelman syndrome due to maternal 15q11q13 deletionHP:0040283 - Occasional121
HP:0004305HP:0001337Tremor1OCA2 CL E G H49488101ORPHA:98794Angelman syndrome due to maternal 15q11q13 deletionHP:0040283 - Occasional121
HP:0004305HP:0000733Motor stereotypy1OCRL CL E G H49528108OMIM:309000Lowe syndrome.88
HP:0004305HP:0000733Motor stereotypy1OCRL CL E G H49528108ORPHA:534Oculocerebrorenal syndrome of LoweHP:0040281 - Very frequent88
HP:0004305HP:0002169Clonus1OCRL CL E G H49528108ORPHA:534Oculocerebrorenal syndrome of LoweHP:0040282 - Frequent88
HP:0004305HP:0001337Tremor1OFD1 CL E G H84812567ORPHA:2750Orofaciodigital syndrome type 1HP:0040283 - Occasional201
HP:0004305HP:0001337Tremor1OFD1 CL E G H84812567ORPHA:2754Orofaciodigital syndrome type 6HP:0040283 - Occasional201
HP:0004305HP:0001337Tremor1OPA1 CL E G H49768140OMIM:210000Behr syndrome.214
HP:0004305HP:0002072Chorea1OPA3 CL E G H802078142ORPHA:670473-methylglutaconic aciduria type 3163
HP:0004305HP:0002305Athetosis1OPA3 CL E G H802078142ORPHA:670473-methylglutaconic aciduria type 3163
HP:0004305HP:0002072Chorea1OPA3 CL E G H802078142OMIM:2585013-methylglutaconic aciduria, type III.163
HP:0004305HP:0001337Tremor1OPA3 CL E G H802078142ORPHA:67036Autosomal dominant optic atrophy and cataract163
HP:0004305HP:0001337Tremor1OPA3 CL E G H802078142OMIM:165300OPTIC ATROPHY 3, AUTOSOMAL DOMINANT; OPA3163
HP:0004305HP:0000733Motor stereotypy1OPHN1 CL E G H49838148OMIM:300486Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance55
HP:0004305HP:0001337Tremor1OPHN1 CL E G H49838148ORPHA:137831X-linked intellectual disability-cerebellar hypoplasia syndrome55
HP:0004305HP:0002380Fasciculations1OPTN CL E G H1013317142OMIM:613435Amyotrophic lateral sclerosis 1262
HP:0004305HP:0002169Clonus1OSTM1 CL E G H2896221652OMIM:259720Osteopetrosis, autosomal recessive 5.73
HP:0004305HP:0001337Tremor1OXR1 CL E G H5507415822OMIM:213000Cerebellar hypoplasia.1
HP:0004305HP:0001337Tremor1PAH CL E G H50538582ORPHA:79254Classic phenylketonuriaHP:0040282 - Frequent641
HP:0004305HP:0001337Tremor1PANK2 CL E G H8002515894ORPHA:216873Atypical pantothenate kinase-associated neurodegenerationHP:0040283 - Occasional55
HP:0004305HP:0002072Chorea1PANK2 CL E G H8002515894ORPHA:216873Atypical pantothenate kinase-associated neurodegenerationHP:0040283 - Occasional55
HP:0004305HP:0001337Tremor1PANK2 CL E G H8002515894OMIM:234200Neurodegeneration with brain iron accumulation 1.55
HP:0004305HP:0100033Tics1PANK2 CL E G H8002515894OMIM:234200Neurodegeneration with brain iron accumulation 155
HP:0004305HP:0002072Chorea1PANK2 CL E G H8002515894OMIM:234200Neurodegeneration with brain iron accumulation 155
HP:0004305HP:0002305Athetosis1PANK2 CL E G H8002515894OMIM:234200Neurodegeneration with brain iron accumulation 155
HP:0004305HP:0001337Tremor1PARK7 CL E G H1131516369OMIM:606324PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET; PARK723
HP:0004305HP:0001337Tremor1PARK7 CL E G H1131516369ORPHA:2828Young-onset Parkinson diseaseHP:0040282 - Frequent23
HP:0004305HP:0001336Myoclonus1PARS2 CL E G H2597330563ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional14
HP:0004305HP:0001337Tremor1PARS2 CL E G H2597330563ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional14
HP:0004305HP:0002169Clonus1PC CL E G H50918636OMIM:266150Pyruvate carboxylase deficiency.118
HP:0004305HP:0002305Athetosis1PC CL E G H50918636OMIM:266150Pyruvate carboxylase deficiency118
HP:0004305HP:0001337Tremor1PCBD1 CL E G H50928646OMIM:264070Hyperphenylalaninemia, BH4-deficient, D.24
HP:0004305HP:0001337Tremor1PCBD1 CL E G H50928646ORPHA:1578Pterin-4 alpha-carbinolamine dehydratase deficiencyHP:0040283 - Occasional24
HP:0004305HP:0001336Myoclonus1PCDH19 CL E G H5752614270ORPHA:33069Dravet syndromeHP:0040282 - Frequent225
HP:0004305HP:0001337Tremor1PCDH19 CL E G H5752614270ORPHA:33069Dravet syndrome225
HP:0004305HP:0002072Chorea1PDE10A CL E G H108468772ORPHA:494541Childhood-onset benign chorea with striatal involvementHP:0040281 - Very frequent5
HP:0004305HP:0001337Tremor1PDE10A CL E G H108468772OMIM:616921Dyskinesia, limb and orofacial, infantile-onsetHP:0040283 - Occasional5
HP:0004305HP:0100248Hemiballismus1PDE10A CL E G H108468772OMIM:616921Dyskinesia, limb and orofacial, infantile-onset.5
HP:0004305HP:0002072Chorea1PDE10A CL E G H108468772OMIM:616921Dyskinesia, limb and orofacial, infantile-onset5
HP:0004305HP:0001337Tremor1PDE10A CL E G H108468772ORPHA:494526Infantile-onset generalized dyskinesia with orofacial involvementHP:0040283 - Occasional5
HP:0004305HP:0100248Hemiballismus1PDE10A CL E G H108468772ORPHA:494526Infantile-onset generalized dyskinesia with orofacial involvementHP:0040283 - Occasional5
HP:0004305HP:0002072Chorea1PDE10A CL E G H108468772ORPHA:494526Infantile-onset generalized dyskinesia with orofacial involvementHP:0040282 - Frequent5
HP:0004305HP:0002072Chorea1PDE10A CL E G H108468772OMIM:616922Striatal degeneration, autosomal dominant 25
HP:0004305HP:0002072Chorea1PDE2A CL E G H51388777ORPHA:31709Infantile convulsions and choreoathetosisHP:0040282 - Frequent
HP:0004305HP:0002305Athetosis1PDE2A CL E G H51388777ORPHA:31709Infantile convulsions and choreoathetosisHP:0040282 - Frequent
HP:0004305HP:0007166Paroxysmal dyskinesia1PDE2A CL E G H51388777ORPHA:31709Infantile convulsions and choreoathetosisHP:0040282 - Frequent
HP:0004305HP:0000733Motor stereotypy1PDE2A CL E G H51388777OMIM:619150INTELLECTUAL DEVELOPMENTAL DISORDER WITH PAROXYSMAL DYSKINESIA OR SEIZURES; IDDPADS
HP:0004305HP:0002072Chorea1PDE2A CL E G H51388777OMIM:619150INTELLECTUAL DEVELOPMENTAL DISORDER WITH PAROXYSMAL DYSKINESIA OR SEIZURES; IDDPADS
HP:0004305HP:0007166Paroxysmal dyskinesia1PDE2A CL E G H51388777OMIM:619150INTELLECTUAL DEVELOPMENTAL DISORDER WITH PAROXYSMAL DYSKINESIA OR SEIZURES; IDDPADS
HP:0004305HP:0001337Tremor1PDE6D CL E G H51478788ORPHA:2754Orofaciodigital syndrome type 6HP:0040283 - Occasional1
HP:0004305HP:0001337Tremor1PDGFB CL E G H51558800OMIM:213600Basal ganglia calcification, idiopathic, 1.9
HP:0004305HP:0002072Chorea1PDGFB CL E G H51558800OMIM:213600Basal ganglia calcification, idiopathic, 1.9
HP:0004305HP:0002305Athetosis1PDGFB CL E G H51558800OMIM:213600Basal ganglia calcification, idiopathic, 1.9
HP:0004305HP:0100033Tics1PDGFB CL E G H51558800OMIM:615483Basal ganglia calcification, idiopathic, 59
HP:0004305HP:0002072Chorea1PDGFB CL E G H51558800OMIM:615483Basal ganglia calcification, idiopathic, 5.9
HP:0004305HP:0002305Athetosis1PDGFB CL E G H51558800OMIM:615483Basal ganglia calcification, idiopathic, 5.9
HP:0004305HP:0001336Myoclonus1PDGFB CL E G H51558800ORPHA:2495Meningioma9
HP:0004305HP:0001337Tremor1PDGFRB CL E G H51598804OMIM:213600Basal ganglia calcification, idiopathic, 1.28
HP:0004305HP:0002072Chorea1PDGFRB CL E G H51598804OMIM:213600Basal ganglia calcification, idiopathic, 1.28
HP:0004305HP:0002305Athetosis1PDGFRB CL E G H51598804OMIM:213600Basal ganglia calcification, idiopathic, 1.28
HP:0004305HP:0001336Myoclonus1PDHA1 CL E G H51608806OMIM:312170Pyruvate dehydrogenase e1-alpha deficiency88
HP:0004305HP:0001337Tremor1PDHA1 CL E G H51608806OMIM:312170Pyruvate dehydrogenase e1-alpha deficiency88
HP:0004305HP:0002072Chorea1PDHA1 CL E G H51608806OMIM:312170Pyruvate dehydrogenase e1-alpha deficiency88
HP:0004305HP:0002305Athetosis1PDHA1 CL E G H51608806OMIM:312170Pyruvate dehydrogenase e1-alpha deficiency88
HP:0004305HP:0001337Tremor1PDK3 CL E G H51658811OMIM:300905Charcot-Marie-Tooth disease, X-linked dominant, 64
HP:0004305HP:0001337Tremor1PDK3 CL E G H51658811ORPHA:352675X-linked Charcot-Marie-Tooth disease type 64
HP:0004305HP:0000733Motor stereotypy1PDPN CL E G H1063029602ORPHA:16061p36 deletion syndromeHP:0040282 - Frequent
HP:0004305HP:0001337Tremor1PDYN CL E G H51738820OMIM:610245Spinocerebellar ataxia 23HP:0040283 - Occasional52
HP:0004305HP:0000733Motor stereotypy1PDZD8 CL E G H11898726974OMIM:620021
HP:0004305HP:0001336Myoclonus1PET100 CL E G H10013180140038OMIM:619055MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 12; MC4DN126
HP:0004305HP:0002169Clonus1PET100 CL E G H10013180140038OMIM:619055MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 12; MC4DN126
HP:0004305HP:0001337Tremor1PEX10 CL E G H51928851OMIM:614871Peroxisome biogenesis disorder 6B75
HP:0004305HP:0001337Tremor1PEX16 CL E G H94098857OMIM:614877Peroxisome biogenesis disorder 8B59
HP:0004305HP:0002169Clonus1PEX16 CL E G H94098857OMIM:614877Peroxisome biogenesis disorder 8B59
HP:0004305HP:0001337Tremor1PEX2 CL E G H58289717OMIM:614867Peroxisome biogenesis disorder 5B.82
HP:0004305HP:0001337Tremor1PEX6 CL E G H51908859ORPHA:95433Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome98
HP:0004305HP:0002380Fasciculations1PFN1 CL E G H52168881OMIM:614808AMYOTROPHIC LATERAL SCLEROSIS 18; ALS186
HP:0004305HP:0001337Tremor1PGAP1 CL E G H8005525712ORPHA:401820Autosomal recessive spastic paraplegia type 6720
HP:0004305HP:0000733Motor stereotypy1PGAP1 CL E G H8005525712OMIM:615802MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42; MRT4220
HP:0004305HP:0001336Myoclonus1PGAP2 CL E G H2731517893ORPHA:247262Hyperphosphatasia-intellectual disability syndromeHP:0040283 - Occasional8
HP:0004305HP:0001336Myoclonus1PGAP3 CL E G H9321023719ORPHA:247262Hyperphosphatasia-intellectual disability syndromeHP:0040283 - Occasional20
HP:0004305HP:0001337Tremor1PGK1 CL E G H52308896ORPHA:713Glycogen storage disease due to phosphoglycerate kinase 1 deficiencyHP:0040282 - Frequent21
HP:0004305HP:0001336Myoclonus1PGM3 CL E G H52388907OMIM:615816Immunodeficiency 2315
HP:0004305HP:0001336Myoclonus1PGM3 CL E G H52388907ORPHA:443811PGM3-CDGHP:0040283 - Occasional15
HP:0004305HP:0001336Myoclonus1PHACTR1 CL E G H22169220990ORPHA:3451Infantile spasms syndromeHP:0040281 - Very frequent1
HP:0004305HP:0002305Athetosis1PHGDH CL E G H262278923ORPHA:793513-phosphoglycerate dehydrogenase deficiency, infantile/juvenile formHP:0040283 - Occasional37
HP:0004305HP:0001337Tremor1PHIP CL E G H5502315673ORPHA:589905PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome11
HP:0004305HP:0001337Tremor1PI4KA CL E G H52978983OMIM:619708GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 2; GIDID211
HP:0004305HP:0002169Clonus1PI4KA CL E G H52978983OMIM:619621SPASTIC PARAPLEGIA 84, AUTOSOMAL RECESSIVE; SPG8411
HP:0004305HP:0001337Tremor1PIBF1 CL E G H1046423352ORPHA:475Joubert syndromeHP:0040283 - Occasional4
HP:0004305HP:0001336Myoclonus1PIGA CL E G H52778957ORPHA:3451Infantile spasms syndromeHP:0040281 - Very frequent46
HP:0004305HP:0001336Myoclonus1PIGA CL E G H52778957OMIM:301072NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS; NEDEPH46
HP:0004305HP:0001337Tremor1PIGA CL E G H52778957OMIM:301072NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS; NEDEPH46
HP:0004305HP:0001336Myoclonus1PIGL CL E G H94878966ORPHA:247262Hyperphosphatasia-intellectual disability syndromeHP:0040283 - Occasional36
HP:0004305HP:0001337Tremor1PIGN CL E G H235568967ORPHA:280633Multiple congenital anomalies-hypotonia-seizures syndromeHP:0040282 - Frequent37
HP:0004305HP:0002305Athetosis1PIGN CL E G H235568967ORPHA:280633Multiple congenital anomalies-hypotonia-seizures syndromeHP:0040283 - Occasional37
HP:0004305HP:0001337Tremor1PIGN CL E G H235568967OMIM:614080Multiple congenital anomalies-hypotonia-seizures syndrome 1.37
HP:0004305HP:0002072Chorea1PIGN CL E G H235568967OMIM:614080Multiple congenital anomalies-hypotonia-seizures syndrome 137
HP:0004305HP:0002305Athetosis1PIGN CL E G H235568967OMIM:614080Multiple congenital anomalies-hypotonia-seizures syndrome 137
HP:0004305HP:0001336Myoclonus1PIGO CL E G H8472023215ORPHA:247262Hyperphosphatasia-intellectual disability syndromeHP:0040283 - Occasional84
HP:0004305HP:0001336Myoclonus1PIGP CL E G H512273046ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional2
HP:0004305HP:0001337Tremor1PIGP CL E G H512273046ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional2
HP:0004305HP:0002072Chorea1PIGP CL E G H512273046ORPHA:1934Early infantile epileptic encephalopathy2
HP:0004305HP:0002305Athetosis1PIGP CL E G H512273046ORPHA:1934Early infantile epileptic encephalopathy2
HP:0004305HP:0002169Clonus1PIGP CL E G H512273046OMIM:617599Epileptic encephalopathy, early infantile, 55.2
HP:0004305HP:0001336Myoclonus1PIGQ CL E G H909114135ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional3
HP:0004305HP:0001337Tremor1PIGQ CL E G H909114135ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional3
HP:0004305HP:0002072Chorea1PIGQ CL E G H909114135ORPHA:1934Early infantile epileptic encephalopathy3
HP:0004305HP:0002305Athetosis1PIGQ CL E G H909114135ORPHA:1934Early infantile epileptic encephalopathy3
HP:0004305HP:0002169Clonus1PIGT CL E G H5160414938OMIM:615398Multiple congenital anomalies-hypotonia-seizures syndrome 312
HP:0004305HP:0002305Athetosis1PIGV CL E G H5565026031OMIM:239300Hyperphosphatasia with mental retardation.57
HP:0004305HP:0001336Myoclonus1PIGV CL E G H5565026031ORPHA:247262Hyperphosphatasia-intellectual disability syndromeHP:0040283 - Occasional57
HP:0004305HP:0001336Myoclonus1PIGW CL E G H28409823213ORPHA:247262Hyperphosphatasia-intellectual disability syndromeHP:0040283 - Occasional6
HP:0004305HP:0001336Myoclonus1PIGY CL E G H8499228213ORPHA:247262Hyperphosphatasia-intellectual disability syndromeHP:0040283 - Occasional2
HP:0004305HP:0001337Tremor1PIK3CA CL E G H52908975OMIM:615108Cowden syndrome 5162
HP:0004305HP:0001336Myoclonus1PIK3CA CL E G H52908975ORPHA:99802HemimegalencephalyHP:0040283 - Occasional162
HP:0004305HP:0001336Myoclonus1PIK3CA CL E G H52908975ORPHA:2495Meningioma162
HP:0004305HP:0001337Tremor1PIK3CD CL E G H52938977ORPHA:221139Combined immunodeficiency with faciooculoskeletal anomalies9
HP:0004305HP:0001337Tremor1PIK3R5 CL E G H2353330035ORPHA:64753Spinocerebellar ataxia with axonal neuropathy type 211
HP:0004305HP:0002072Chorea1PIK3R5 CL E G H2353330035ORPHA:64753Spinocerebellar ataxia with axonal neuropathy type 211
HP:0004305HP:0002305Athetosis1PIK3R5 CL E G H2353330035ORPHA:64753Spinocerebellar ataxia with axonal neuropathy type 211
HP:0004305HP:0001337Tremor1PINK1 CL E G H6501814581OMIM:605909Parkinson disease 6, autosomal recessive early-onset55
HP:0004305HP:0001337Tremor1PINK1 CL E G H6501814581ORPHA:2828Young-onset Parkinson diseaseHP:0040282 - Frequent55
HP:0004305HP:0001337Tremor1PITRM1 CL E G H1053117663OMIM:619405SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 30; SCAR301
HP:0004305HP:0002072Chorea1PITX3 CL E G H53099006OMIM:610623Cataract 11, multiple types.6
HP:0004305HP:0001336Myoclonus1PLA2G6 CL E G H83989039ORPHA:199351Adult-onset dystonia-parkinsonismHP:0040283 - Occasional133
HP:0004305HP:0001337Tremor1PLA2G6 CL E G H83989039ORPHA:199351Adult-onset dystonia-parkinsonismHP:0040282 - Frequent133
HP:0004305HP:0001337Tremor1PLA2G6 CL E G H83989039OMIM:610217Neurodegeneration with brain iron accumulation 2B133
HP:0004305HP:0002072Chorea1PLA2G6 CL E G H83989039OMIM:610217Neurodegeneration with brain iron accumulation 2B.133
HP:0004305HP:0001336Myoclonus1PLA2G6 CL E G H83989039OMIM:612953Parkinson disease 14, autosomal recessive133
HP:0004305HP:0001337Tremor1PLA2G6 CL E G H83989039OMIM:612953Parkinson disease 14, autosomal recessive.133
HP:0004305HP:0002169Clonus1PLA2G6 CL E G H83989039OMIM:612953Parkinson disease 14, autosomal recessive133
HP:0004305HP:0001336Myoclonus1PLCB1 CL E G H2323615917ORPHA:3451Infantile spasms syndromeHP:0040281 - Very frequent119
HP:0004305HP:0001337Tremor1PLP1 CL E G H53549086OMIM:312080Pelizaeus-Merzbacher disease.60
HP:0004305HP:0002072Chorea1PLP1 CL E G H53549086OMIM:312080Pelizaeus-Merzbacher disease60
HP:0004305HP:0002305Athetosis1PLP1 CL E G H53549086OMIM:312080Pelizaeus-Merzbacher disease60
HP:0004305HP:0001337Tremor1PLP1 CL E G H53549086ORPHA:280219Pelizaeus-Merzbacher disease, classic form60
HP:0004305HP:0002305Athetosis1PLP1 CL E G H53549086ORPHA:280219Pelizaeus-Merzbacher disease, classic formHP:0040282 - Frequent60
HP:0004305HP:0001337Tremor1PLP1 CL E G H53549086ORPHA:280210Pelizaeus-Merzbacher disease, connatal form60
HP:0004305HP:0001336Myoclonus1PLPBP CL E G H112129457OMIM:617290Epilepsy, early-onset, vitamin b6-dependent.6
HP:0004305HP:0001337Tremor1PMM2 CL E G H53739115OMIM:212065Congenital disorder of glycosylation, type Ia150
HP:0004305HP:0001337Tremor1PMP2 CL E G H53759117OMIM:618279Charcot-Marie-Tooth disease, demyelinating, type 1G1
HP:0004305HP:0002380Fasciculations1PMP22 CL E G H53769118OMIM:145900Hypertrophic neuropathy of dejerine-sottas79
HP:0004305HP:0001337Tremor1PMP22 CL E G H53769118ORPHA:3115Roussy-Lévy syndrome79
HP:0004305HP:0001337Tremor1PMP22 CL E G H53769118OMIM:180800Roussy-Levy hereditary areflexic dystasia79
HP:0004305HP:0001337Tremor1PMPCA CL E G H2320318667ORPHA:1170Autosomal recessive cerebelloparenchymal disorder type 3HP:0040283 - Occasional7
HP:0004305HP:0001337Tremor1PMPCA CL E G H2320318667OMIM:213200Spinocerebellar ataxia, autosomal recessive 2.7
HP:0004305HP:0002072Chorea1PNKD CL E G H259539153ORPHA:98810Paroxysmal non-kinesigenic dyskinesiaHP:0040282 - Frequent66
HP:0004305HP:0002305Athetosis1PNKD CL E G H259539153ORPHA:98810Paroxysmal non-kinesigenic dyskinesia66
HP:0004305HP:0007166Paroxysmal dyskinesia1PNKD CL E G H259539153ORPHA:98810Paroxysmal non-kinesigenic dyskinesiaHP:0040281 - Very frequent66
HP:0004305HP:0002072Chorea1PNKD CL E G H259539153OMIM:118800Paroxysmal nonkinesigenic dyskinesia 166
HP:0004305HP:0002305Athetosis1PNKD CL E G H259539153OMIM:118800Paroxysmal nonkinesigenic dyskinesia 166
HP:0004305HP:0001336Myoclonus1PNKP CL E G H112849154ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional244
HP:0004305HP:0001337Tremor1PNKP CL E G H112849154ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional244
HP:0004305HP:0002072Chorea1PNKP CL E G H112849154ORPHA:1934Early infantile epileptic encephalopathy244
HP:0004305HP:0002305Athetosis1PNKP CL E G H112849154ORPHA:1934Early infantile epileptic encephalopathy244
HP:0004305HP:0001337Tremor1PNP CL E G H48607892OMIM:613179Immunodeficiency due to purine nucleoside phosphorylase deficiency.52
HP:0004305HP:0002380Fasciculations1PNPLA2 CL E G H5710430802OMIM:610717Neutral lipid storage disease with myopathy.65
HP:0004305HP:0002380Fasciculations1PNPLA2 CL E G H5710430802ORPHA:98908Neutral lipid storage myopathyHP:0040282 - Frequent65
HP:0004305HP:0001337Tremor1PNPLA6 CL E G H1090816268OMIM:215470Boucher-Neuhauser syndrome103
HP:0004305HP:0001336Myoclonus1PNPO CL E G H5516330260ORPHA:79096Pyridoxal phosphate-responsive seizuresHP:0040282 - Frequent92
HP:0004305HP:0001336Myoclonus1PNPO CL E G H5516330260OMIM:610090Pyridoxamine 5-prime-phosphate oxidase deficiency.92
HP:0004305HP:0002072Chorea1PNPT1 CL E G H8717823166ORPHA:319514Combined oxidative phosphorylation defect type 1360
HP:0004305HP:0002305Athetosis1PNPT1 CL E G H8717823166ORPHA:319514Combined oxidative phosphorylation defect type 1360
HP:0004305HP:0002072Chorea1PNPT1 CL E G H8717823166OMIM:614932Combined oxidative phosphorylation deficiency 1360
HP:0004305HP:0002305Athetosis1PNPT1 CL E G H8717823166OMIM:614932Combined oxidative phosphorylation deficiency 1360
HP:0004305HP:0001336Myoclonus1PODXL CL E G H54209171ORPHA:391411Atypical juvenile parkinsonismHP:0040283 - Occasional6
HP:0004305HP:0001337Tremor1PODXL CL E G H54209171ORPHA:391411Atypical juvenile parkinsonism6
HP:0004305HP:0001337Tremor1PODXL CL E G H54209171ORPHA:2828Young-onset Parkinson diseaseHP:0040282 - Frequent6
HP:0004305HP:0000733Motor stereotypy1POGZ CL E G H2312618801OMIM:616364White-Sutton syndrome35
HP:0004305HP:0000733Motor stereotypy1POGZ CL E G H2312618801ORPHA:468678White-Sutton syndromeHP:0040283 - Occasional35
HP:0004305HP:0100033Tics1POGZ CL E G H2312618801OMIM:616364White-Sutton syndrome35
HP:0004305HP:0000733Motor stereotypy1POLA1 CL E G H54229173OMIM:301030Van esch-o'driscoll syndrome2
HP:0004305HP:0001336Myoclonus1POLG CL E G H54289179ORPHA:726Alpers-Huttenlocher syndromeHP:0040282 - Frequent464
HP:0004305HP:0002072Chorea1POLG CL E G H54289179ORPHA:726Alpers-Huttenlocher syndrome464
HP:0004305HP:0002305Athetosis1POLG CL E G H54289179ORPHA:726Alpers-Huttenlocher syndrome464
HP:0004305HP:0001337Tremor1POLG CL E G H54289179ORPHA:254892Autosomal dominant progressive external ophthalmoplegiaHP:0040283 - Occasional464
HP:0004305HP:0001337Tremor1POLG CL E G H54289179ORPHA:254886Autosomal recessive progressive external ophthalmoplegia464
HP:0004305HP:0001336Myoclonus1POLG CL E G H54289179OMIM:203700Mitochondrial DNA depletion syndrome 4A (Alpers type).464
HP:0004305HP:0001337Tremor1POLG CL E G H54289179OMIM:157640Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1464
HP:0004305HP:0001337Tremor1POLG CL E G H54289179OMIM:258450Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive464
HP:0004305HP:0001336Myoclonus1POLG CL E G H54289179OMIM:607459Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis.464
HP:0004305HP:0001336Myoclonus1POLG CL E G H54289179ORPHA:70595Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndromeHP:0040282 - Frequent464
HP:0004305HP:0001337Tremor1POLG2 CL E G H112329180ORPHA:254892Autosomal dominant progressive external ophthalmoplegiaHP:0040283 - Occasional45
HP:0004305HP:0001336Myoclonus1POLR1C CL E G H953320194OMIM:616494Leukodystrophy, hypomyelinating, 1138
HP:0004305HP:0001337Tremor1POLR1C CL E G H953320194OMIM:616494Leukodystrophy, hypomyelinating, 1138
HP:0004305HP:0001337Tremor1POLR3A CL E G H1112830074OMIM:607694Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism138
HP:0004305HP:0001337Tremor1POLR3A CL E G H1112830074ORPHA:447896Tremor-ataxia-central hypomyelination syndrome138
HP:0004305HP:0001337Tremor1POLR3A CL E G H1112830074ORPHA:3455Wiedemann-Rautenstrauch syndromeHP:0040283 - Occasional138
HP:0004305HP:0001337Tremor1POLR3A CL E G H1112830074OMIM:264090Wiedemann-Rautenstrauch syndrome138
HP:0004305HP:0001337Tremor1POLR3B CL E G H5570330348OMIM:607694Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism67
HP:0004305HP:0001337Tremor1POLR3B CL E G H5570330348OMIM:614381Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism67
HP:0004305HP:0002305Athetosis1POLR3K CL E G H5172814121OMIM:619310LEUKODYSTROPHY, HYPOMYELINATING, 21; HLD21
HP:0004305HP:0002169Clonus1POMGNT1 CL E G H5562419139ORPHA:370959Congenital muscular dystrophy with cerebellar involvementHP:0040283 - Occasional180
HP:0004305HP:0001336Myoclonus1POMGNT1 CL E G H5562419139OMIM:253280Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3.180
HP:0004305HP:0002169Clonus1POMK CL E G H8419726267ORPHA:370959Congenital muscular dystrophy with cerebellar involvementHP:0040283 - Occasional18
HP:0004305HP:0002169Clonus1POMT1 CL E G H105859202ORPHA:370959Congenital muscular dystrophy with cerebellar involvementHP:0040283 - Occasional213
HP:0004305HP:0002169Clonus1POMT2 CL E G H2995419743ORPHA:370959Congenital muscular dystrophy with cerebellar involvementHP:0040283 - Occasional221
HP:0004305HP:0002072Chorea1POU3F3 CL E G H54559216OMIM:618604SNIJDERS BLOK-FISHER SYNDROME; SNIBFIS
HP:0004305HP:0002305Athetosis1POU3F3 CL E G H54559216OMIM:618604SNIJDERS BLOK-FISHER SYNDROME; SNIBFIS
HP:0004305HP:0002169Clonus1POU3F4 CL E G H54569217ORPHA:1435Xq21 microdeletion syndrome40
HP:0004305HP:0001337Tremor1POU4F1 CL E G H54579218OMIM:619352ATAXIA, INTENTION TREMOR, AND HYPOTONIA SYNDROME, CHILDHOOD-ONSET; ATITHS
HP:0004305HP:0001337Tremor1POU4F1 CL E G H54579218ORPHA:314647Non-progressive cerebellar ataxia with intellectual disability
HP:0004305HP:0001337Tremor1PPP1R15B CL E G H8491914951OMIM:616817Microcephaly, short stature, and impaired glucose metabolism 22
HP:0004305HP:0001337Tremor1PPP2R2B CL E G H55219305OMIM:604326Spinocerebellar ataxia 125
HP:0004305HP:0001337Tremor1PPP2R2B CL E G H55219305ORPHA:98762Spinocerebellar ataxia type 125
HP:0004305HP:0000733Motor stereotypy1PPP2R5D CL E G H55289312ORPHA:457279Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndromeHP:0040282 - Frequent10
HP:0004305HP:0001336Myoclonus1PPP3CA CL E G H55309314ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional2
HP:0004305HP:0001337Tremor1PPP3CA CL E G H55309314ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional2
HP:0004305HP:0001336Myoclonus1PPT1 CL E G H55389325OMIM:256730Ceroid lipofuscinosis, neuronal, 1.172
HP:0004305HP:0000733Motor stereotypy1PRDM16 CL E G H6397614000ORPHA:16061p36 deletion syndromeHP:0040282 - Frequent148
HP:0004305HP:0001336Myoclonus1PRDM8 CL E G H5697813993ORPHA:324290Early-onset Lafora body diseaseHP:0040281 - Very frequent1
HP:0004305HP:0001336Myoclonus1PRDM8 CL E G H5697813993OMIM:616640Epilepsy, progressive myoclonic, 101
HP:0004305HP:0001337Tremor1PRDX1 CL E G H50529352OMIM:277400Methylmalonic aciduria and homocystinuria, Cblc type.
HP:0004305HP:0001336Myoclonus1PRDX3 CL E G H109359354OMIM:619862
HP:0004305HP:0001337Tremor1PRDX3 CL E G H109359354OMIM:619862
HP:0004305HP:0001337Tremor1PRICKLE1 CL E G H14416517019OMIM:612437Epilepsy, progressive myoclonic 1B.133
HP:0004305HP:0001336Myoclonus1PRICKLE1 CL E G H14416517019ORPHA:308Progressive myoclonic epilepsy type 1HP:0040281 - Very frequent133
HP:0004305HP:0001337Tremor1PRICKLE1 CL E G H14416517019ORPHA:308Progressive myoclonic epilepsy type 1133
HP:0004305HP:0000733Motor stereotypy1PRKAR1B CL E G H55759390OMIM:619680MARBACH-SCHAAF NEURODEVELOPMENTAL SYNDROME; MASNS2
HP:0004305HP:0001337Tremor1PRKAR1B CL E G H55759390OMIM:619680MARBACH-SCHAAF NEURODEVELOPMENTAL SYNDROME; MASNS2
HP:0004305HP:0001336Myoclonus1PRKCG CL E G H55829402ORPHA:98763Spinocerebellar ataxia type 14HP:0040283 - Occasional83
HP:0004305HP:0001337Tremor1PRKCG CL E G H55829402ORPHA:98763Spinocerebellar ataxia type 14HP:0040283 - Occasional83
HP:0004305HP:0000733Motor stereotypy1PRKCZ CL E G H55909412ORPHA:16061p36 deletion syndromeHP:0040282 - Frequent
HP:0004305HP:0001337Tremor1PRKN CL E G H50718607OMIM:600116Parkinson disease, juvenile, type 2138
HP:0004305HP:0001337Tremor1PRKN CL E G H50718607ORPHA:2828Young-onset Parkinson diseaseHP:0040282 - Frequent138
HP:0004305HP:0001337Tremor1PRKRA CL E G H85759438OMIM:612067Dystonia 1637
HP:0004305HP:0001337Tremor1PRKRA CL E G H85759438ORPHA:210571Dystonia 1637
HP:0004305HP:0001336Myoclonus1PRNP CL E G H56219449OMIM:123400Creutzfeldt-Jakob disease.69
HP:0004305HP:0001336Myoclonus1PRNP CL E G H56219449OMIM:600072Fatal familial insomnia.69
HP:0004305HP:0001336Myoclonus1PRNP CL E G H56219449OMIM:137440Gerstmann-Straussler disease.69
HP:0004305HP:0001337Tremor1PRNP CL E G H56219449OMIM:137440Gerstmann-Straussler disease.69
HP:0004305HP:0001336Myoclonus1PRNP CL E G H56219449ORPHA:356Gerstmann-Straussler-Scheinker syndrome69
HP:0004305HP:0002072Chorea1PRNP CL E G H56219449OMIM:603218Huntington disease-like 1.69
HP:0004305HP:0002072Chorea1PRNP CL E G H56219449ORPHA:157941Huntington disease-like 1HP:0040281 - Very frequent69
HP:0004305HP:0001336Myoclonus1PRNP CL E G H56219449ORPHA:282166Inherited Creutzfeldt-Jakob diseaseHP:0040282 - Frequent69
HP:0004305HP:0001337Tremor1PRNP CL E G H56219449ORPHA:282166Inherited Creutzfeldt-Jakob diseaseHP:0040282 - Frequent69
HP:0004305HP:0002072Chorea1PRNP CL E G H56219449ORPHA:282166Inherited Creutzfeldt-Jakob diseaseHP:0040283 - Occasional69
HP:0004305HP:0000733Motor stereotypy1PRODH CL E G H56259453OMIM:239500Hyperprolinemia, type I.13
HP:0004305HP:0001337Tremor1PROK2 CL E G H6067518455ORPHA:478Kallmann syndromeHP:0040283 - Occasional9
HP:0004305HP:0001337Tremor1PROKR2 CL E G H12867415836ORPHA:478Kallmann syndromeHP:0040283 - Occasional34
HP:0004305HP:0001337Tremor1PRORP CL E G H969219958OMIM:619737COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 54; COXPD54
HP:0004305HP:0002380Fasciculations1PRPH CL E G H56309461OMIM:105400Amyotrophic lateral sclerosis 1.25
HP:0004305HP:0001337Tremor1PRPS1 CL E G H56319462ORPHA:99014X-linked Charcot-Marie-Tooth disease type 5HP:0040283 - Occasional49
HP:0004305HP:0002169Clonus1PRPS1 CL E G H56319462ORPHA:423479X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndromeHP:0040283 - Occasional49
HP:0004305HP:0001336Myoclonus1PRRT2 CL E G H11247630500ORPHA:306Benign familial infantile epilepsy94
HP:0004305HP:0002072Chorea1PRRT2 CL E G H11247630500OMIM:602066Convulsions, familial infantile, with paroxysmal choreoathetosis94
HP:0004305HP:0002305Athetosis1PRRT2 CL E G H11247630500OMIM:602066Convulsions, familial infantile, with paroxysmal choreoathetosis94
HP:0004305HP:0002072Chorea1PRRT2 CL E G H11247630500OMIM:128200Episodic kinesigenic dyskinesia 194
HP:0004305HP:0002305Athetosis1PRRT2 CL E G H11247630500OMIM:128200Episodic kinesigenic dyskinesia 194
HP:0004305HP:0002380Fasciculations1PRRT2 CL E G H11247630500ORPHA:569Familial or sporadic hemiplegic migraine94
HP:0004305HP:0032506Alien limb phenomenon1PRRT2 CL E G H11247630500ORPHA:569Familial or sporadic hemiplegic migraineHP:0040283 - Occasional94
HP:0004305HP:0002072Chorea1PRRT2 CL E G H11247630500ORPHA:31709Infantile convulsions and choreoathetosisHP:0040282 - Frequent94
HP:0004305HP:0002305Athetosis1PRRT2 CL E G H11247630500ORPHA:31709Infantile convulsions and choreoathetosisHP:0040282 - Frequent94
HP:0004305HP:0007166Paroxysmal dyskinesia1PRRT2 CL E G H11247630500ORPHA:31709Infantile convulsions and choreoathetosisHP:0040282 - Frequent94
HP:0004305HP:0002072Chorea1PRRT2 CL E G H11247630500ORPHA:98811Paroxysmal exertion-induced dyskinesiaHP:0040283 - Occasional94
HP:0004305HP:0002305Athetosis1PRRT2 CL E G H11247630500ORPHA:98811Paroxysmal exertion-induced dyskinesia94
HP:0004305HP:0007166Paroxysmal dyskinesia1PRRT2 CL E G H11247630500ORPHA:98811Paroxysmal exertion-induced dyskinesiaHP:0040281 - Very frequent94
HP:0004305HP:0002072Chorea1PRRT2 CL E G H11247630500ORPHA:98809Paroxysmal kinesigenic dyskinesiaHP:0040281 - Very frequent94
HP:0004305HP:0002305Athetosis1PRRT2 CL E G H11247630500ORPHA:98809Paroxysmal kinesigenic dyskinesiaHP:0040281 - Very frequent94
HP:0004305HP:0002072Chorea1PRRT2 CL E G H11247630500ORPHA:98810Paroxysmal non-kinesigenic dyskinesiaHP:0040282 - Frequent94
HP:0004305HP:0002305Athetosis1PRRT2 CL E G H11247630500ORPHA:98810Paroxysmal non-kinesigenic dyskinesia94
HP:0004305HP:0007166Paroxysmal dyskinesia1PRRT2 CL E G H11247630500ORPHA:98810Paroxysmal non-kinesigenic dyskinesiaHP:0040281 - Very frequent94
HP:0004305HP:0002169Clonus1PRUNE1 CL E G H5849713420OMIM:617481Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies.8
HP:0004305HP:0002169Clonus1PRUNE1 CL E G H5849713420ORPHA:544469PRUNE1-related neurological syndrome8
HP:0004305HP:0002380Fasciculations1PRUNE1 CL E G H5849713420ORPHA:544469PRUNE1-related neurological syndrome8
HP:0004305HP:0002380Fasciculations1PRX CL E G H5771613797OMIM:145900Hypertrophic neuropathy of dejerine-sottas170
HP:0004305HP:0001336Myoclonus1PSAP CL E G H56609498OMIM:611721Combined saposin deficiency.81
HP:0004305HP:0002380Fasciculations1PSAP CL E G H56609498OMIM:611721Combined saposin deficiency.81
HP:0004305HP:0001336Myoclonus1PSAP CL E G H56609498ORPHA:139406Encephalopathy due to prosaposin deficiencyHP:0040281 - Very frequent81
HP:0004305HP:0001336Myoclonus1PSAP CL E G H56609498OMIM:610539Gaucher disease, atypical81
HP:0004305HP:0001337Tremor1PSAP CL E G H56609498OMIM:610539Gaucher disease, atypical81
HP:0004305HP:0001336Myoclonus1PSAP CL E G H56609498ORPHA:206436Infantile Krabbe diseaseHP:0040283 - Occasional81
HP:0004305HP:0002169Clonus1PSAP CL E G H56609498ORPHA:206436Infantile Krabbe disease81
HP:0004305HP:0001337Tremor1PSAP CL E G H56609498ORPHA:309271Metachromatic leukodystrophy, adult form81
HP:0004305HP:0002072Chorea1PSAP CL E G H56609498ORPHA:309271Metachromatic leukodystrophy, adult formHP:0040283 - Occasional81
HP:0004305HP:0001337Tremor1PSAP CL E G H56609498ORPHA:309263Metachromatic leukodystrophy, juvenile form81
HP:0004305HP:0001337Tremor1PSAP CL E G H56609498OMIM:619491PARKINSON DISEASE 24, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO; PARK2481
HP:0004305HP:0001336Myoclonus1PSAT1 CL E G H2996819129OMIM:610992Phosphoserine aminotransferase deficiency27
HP:0004305HP:0001336Myoclonus1PSAT1 CL E G H2996819129ORPHA:284417Phosphoserine aminotransferase deficiency, infantile/juvenile formHP:0040283 - Occasional27
HP:0004305HP:0001336Myoclonus1PSEN1 CL E G H56639508OMIM:607822Alzheimer disease 3.241
HP:0004305HP:0000733Motor stereotypy1PSEN1 CL E G H56639508ORPHA:275864Behavioral variant of frontotemporal dementiaHP:0040281 - Very frequent241
HP:0004305HP:0002380Fasciculations1PSEN1 CL E G H56639508ORPHA:275864Behavioral variant of frontotemporal dementiaHP:0040283 - Occasional241
HP:0004305HP:0001336Myoclonus1PSEN1 CL E G H56639508ORPHA:1020Early-onset autosomal dominant Alzheimer diseaseHP:0040281 - Very frequent241
HP:0004305HP:0000733Motor stereotypy1PSEN1 CL E G H56639508OMIM:172700Pick disease of brain.241
HP:0004305HP:0001336Myoclonus1PSEN2 CL E G H56649509ORPHA:1020Early-onset autosomal dominant Alzheimer diseaseHP:0040281 - Very frequent59
HP:0004305HP:0002072Chorea1PSMC1 CL E G H57009547OMIM:6200711
HP:0004305HP:0001336Myoclonus1PTCD3 CL E G H5503724717OMIM:619057COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 51; COXPD51
HP:0004305HP:0100033Tics1PTCHD1 CL E G H13941126392OMIM:300830Autism, susceptibility to, X-linked 434
HP:0004305HP:0001337Tremor1PTEN CL E G H57289588OMIM:158350Cowden syndrome 1948
HP:0004305HP:0031990Chvostek sign1PTH CL E G H57419606OMIM:146200Hypoparathyroidism, familial isolated16
HP:0004305HP:0001336Myoclonus1PTS CL E G H58059689ORPHA:136-pyruvoyl-tetrahydropterin synthase deficiencyHP:0040283 - Occasional19
HP:0004305HP:0002072Chorea1PTS CL E G H58059689ORPHA:136-pyruvoyl-tetrahydropterin synthase deficiencyHP:0040283 - Occasional19
HP:0004305HP:0002169Clonus1PTS CL E G H58059689ORPHA:136-pyruvoyl-tetrahydropterin synthase deficiencyHP:0040283 - Occasional19
HP:0004305HP:0002305Athetosis1PTS CL E G H58059689ORPHA:136-pyruvoyl-tetrahydropterin synthase deficiency19
HP:0004305HP:0001337Tremor1PTS CL E G H58059689OMIM:261640Hyperphenylalaninemia, BH4-deficient, A.19
HP:0004305HP:0002072Chorea1PTS CL E G H58059689OMIM:261640Hyperphenylalaninemia, BH4-deficient, A19
HP:0004305HP:0002305Athetosis1PTS CL E G H58059689OMIM:261640Hyperphenylalaninemia, BH4-deficient, A19
HP:0004305HP:0100033Tics1PUF60 CL E G H2282717042ORPHA:5084888q24.3 microdeletion syndromeHP:0040283 - Occasional19
HP:0004305HP:0000733Motor stereotypy1PUF60 CL E G H2282717042ORPHA:508498Intellectual disability-cardiac anomalies-short stature-joint laxity syndromeHP:0040283 - Occasional19
HP:0004305HP:0002072Chorea1PUM1 CL E G H969814957OMIM:617931Spinocerebellar ataxia 47.1
HP:0004305HP:0001336Myoclonus1PURA CL E G H58139701OMIM:616158Mental retardation, autosomal dominant 31.53
HP:0004305HP:0001336Myoclonus1PURA CL E G H58139701ORPHA:314655Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletionHP:0040283 - Occasional53
HP:0004305HP:0000733Motor stereotypy1PUS7 CL E G H5451726033OMIM:618342Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature
HP:0004305HP:0001337Tremor1PUS7 CL E G H5451726033OMIM:618342Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature
HP:0004305HP:0002305Athetosis1PYCR1 CL E G H58319721OMIM:614438Cutis laxa, autosomal recessive, type IIIB53
HP:0004305HP:0001336Myoclonus1QDPR CL E G H58609752OMIM:261630Hyperphenylalaninemia, bh4-deficient, C.43
HP:0004305HP:0001337Tremor1QDPR CL E G H58609752OMIM:261630Hyperphenylalaninemia, bh4-deficient, C.43
HP:0004305HP:0002072Chorea1QDPR CL E G H58609752OMIM:261630Hyperphenylalaninemia, bh4-deficient, C43
HP:0004305HP:0002305Athetosis1QDPR CL E G H58609752OMIM:261630Hyperphenylalaninemia, bh4-deficient, C43
HP:0004305HP:0001337Tremor1QRICH1 CL E G H5487024713OMIM:617982VERVERI-BRADY SYNDROME; VERBRAS
HP:0004305HP:0000733Motor stereotypy1RAB11B CL E G H92309761OMIM:617807Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter.
HP:0004305HP:0002169Clonus1RAB18 CL E G H2293114244OMIM:614222Warburg micro syndrome 385
HP:0004305HP:0000733Motor stereotypy1RAB39B CL E G H11644216499OMIM:300271Mental retardation, X-linked 72.34
HP:0004305HP:0001337Tremor1RAB39B CL E G H11644216499OMIM:311510Waisman syndrome34
HP:0004305HP:0001337Tremor1RAB3GAP2 CL E G H2578217168ORPHA:401830Autosomal recessive spastic paraplegia type 69135
HP:0004305HP:0002169Clonus1RAB3GAP2 CL E G H2578217168OMIM:212720Martsolf syndrome 1135
HP:0004305HP:0002380Fasciculations1RAB7A CL E G H78799788OMIM:600882Charcot-Marie-Tooth disease, axonal, type 2B50
HP:0004305HP:0000733Motor stereotypy1RAC1 CL E G H58799801OMIM:617751Mental retardation, autosomal dominant 483
HP:0004305HP:0000733Motor stereotypy1RAC1 CL E G H58799801ORPHA:500159Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndromHP:0040282 - Frequent3
HP:0004305HP:0000733Motor stereotypy1RAI1 CL E G H107439834OMIM:182290Smith-Magenis syndrome150
HP:0004305HP:0000733Motor stereotypy1RAI1 CL E G H107439834ORPHA:819Smith-Magenis syndromeHP:0040281 - Very frequent150
HP:0004305HP:0001336Myoclonus1RAPGEF2 CL E G H969316854OMIM:618075EPILEPSY, FAMILIAL ADULT MYOCLONIC, 7; FAME7
HP:0004305HP:0001337Tremor1RARS1 CL E G H59179870OMIM:616140Leukodystrophy, hypomyelinating, 9
HP:0004305HP:0001337Tremor1RARS1 CL E G H59179870ORPHA:438114RARS-related autosomal recessive hypomyelinating leukodystrophy
HP:0004305HP:0000733Motor stereotypy1RBL2 CL E G H59349894OMIM:619690BRUNET-WAGNER NEURODEVELOPMENTAL SYNDROME; BRUWAG
HP:0004305HP:0002169Clonus1REEP1 CL E G H6505525786OMIM:610250Spastic paraplegia 31, autosomal dominant87
HP:0004305HP:0001337Tremor1REEP2 CL E G H5130817975ORPHA:401849Autosomal spastic paraplegia type 723
HP:0004305HP:0000733Motor stereotypy1RERE CL E G H4739965ORPHA:16061p36 deletion syndromeHP:0040282 - Frequent16
HP:0004305HP:0001337Tremor1RET CL E G H59799967ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040283 - Occasional572
HP:0004305HP:0001337Tremor1RET CL E G H59799967ORPHA:276621Sporadic pheochromocytoma/secreting paragangliomaHP:0040283 - Occasional572
HP:0004305HP:0001337Tremor1RFC1 CL E G H59819969ORPHA:504476Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome
HP:0004305HP:0001337Tremor1RFC2 CL E G H59829970ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0004305HP:0001336Myoclonus1RFT1 CL E G H9186930220OMIM:612015Congenital disorder of glycosylation, type IN.92
HP:0004305HP:0002072Chorea1RHOBTB2 CL E G H2322118756OMIM:618004Epileptic encephalopathy, early infantile, 64.1
HP:0004305HP:0001337Tremor1RILPL1 CL E G H35311626814OMIM:619790OCULOPHARYNGODISTAL MYOPATHY 4; OPDM4
HP:0004305HP:0001337Tremor1RLIM CL E G H5113213429OMIM:300978Tonne-Kalscheuer syndrome.7
HP:0004305HP:0001336Myoclonus1RMND1 CL E G H5500521176OMIM:614922Combined oxidative phosphorylation deficiency 11HP:0040283 - Occasional26
HP:0004305HP:0002380Fasciculations1RMND1 CL E G H5500521176OMIM:614922Combined oxidative phosphorylation deficiency 1126
HP:0004305HP:0001337Tremor1RNASEH2A CL E G H1053518518ORPHA:51Aicardi-Goutières syndromeHP:0040283 - Occasional33
HP:0004305HP:0001337Tremor1RNASEH2B CL E G H7962125671ORPHA:51Aicardi-Goutières syndromeHP:0040283 - Occasional34
HP:0004305HP:0001337Tremor1RNASEH2C CL E G H8415324116ORPHA:51Aicardi-Goutières syndromeHP:0040283 - Occasional60
HP:0004305HP:0002305Athetosis1RNASET2 CL E G H863521686OMIM:612951Leukoencephalopathy, cystic, without megalencephalyHP:0040283 - Occasional37
HP:0004305HP:0001337Tremor1RNF113A CL E G H773712974ORPHA:33364Trichothiodystrophy3
HP:0004305HP:0001337Tremor1RNU12 CL E G H26701019380ORPHA:512260Congenital cerebellar ataxia due to RNU12 mutation
HP:0004305HP:0001337Tremor1RNU7-1 CL E G H10014774434033ORPHA:51Aicardi-Goutières syndromeHP:0040283 - Occasional
HP:0004305HP:0001336Myoclonus1RORA CL E G H609510258OMIM:618060INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT EPILEPSY OR CEREBELLAR ATAXIA; IDDECA1
HP:0004305HP:0001337Tremor1RORA CL E G H609510258OMIM:618060INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT EPILEPSY OR CEREBELLAR ATAXIA; IDDECA1
HP:0004305HP:0001336Myoclonus1RORB CL E G H609610259OMIM:618357Epilepsy, idiopathic generalized, susceptibility to, 15.3
HP:0004305HP:0000733Motor stereotypy1RPE65 CL E G H612110294OMIM:204100Leber congenital amaurosis, type II129
HP:0004305HP:0001337Tremor1RPGRIP1L CL E G H2332229168ORPHA:1454Joubert syndrome with hepatic defectHP:0040283 - Occasional167
HP:0004305HP:0001337Tremor1RPGRIP1L CL E G H2332229168ORPHA:220497Joubert syndrome with renal defectHP:0040283 - Occasional167
HP:0004305HP:0001337Tremor1RPL10 CL E G H613410298OMIM:300998MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS3510
HP:0004305HP:0001337Tremor1RRM2B CL E G H5048417296ORPHA:254892Autosomal dominant progressive external ophthalmoplegiaHP:0040283 - Occasional125
HP:0004305HP:0002169Clonus1RTN2 CL E G H625310468ORPHA:100993Autosomal dominant spastic paraplegia type 12HP:0040282 - Frequent25
HP:0004305HP:0002169Clonus1RTN2 CL E G H625310468OMIM:604805Spastic paraplegia 12, autosomal dominant25
HP:0004305HP:0000733Motor stereotypy1RTTN CL E G H2591418654ORPHA:468631Microcephalic cortical malformations-short stature due to RTTN deficiencyHP:0040283 - Occasional113
HP:0004305HP:0002169Clonus1RUSC2 CL E G H985323625OMIM:617773Mental retardation, autosomal recessive 61
HP:0004305HP:0002380Fasciculations1RYR1 CL E G H626110483ORPHA:324581Benign Samaritan congenital myopathyHP:0040283 - Occasional1200
HP:0004305HP:0001337Tremor1SACS CL E G H2627810519ORPHA:98Autosomal recessive spastic ataxia of Charlevoix-Saguenay309
HP:0004305HP:0001336Myoclonus1SAMD12 CL E G H40147431750ORPHA:86814Benign adult familial myoclonic epilepsyHP:0040281 - Very frequent2
HP:0004305HP:0001337Tremor1SAMD12 CL E G H40147431750ORPHA:86814Benign adult familial myoclonic epilepsy2
HP:0004305HP:0001337Tremor1SAMD12 CL E G H40147431750OMIM:601068Epilepsy, familial adult myoclonic, 12
HP:0004305HP:0002169Clonus1SAMD9L CL E G H2192851349OMIM:159550Ataxia-Pancytopenia syndrome4
HP:0004305HP:0001337Tremor1SAMHD1 CL E G H2593915925ORPHA:51Aicardi-Goutières syndromeHP:0040283 - Occasional55
HP:0004305HP:0000733Motor stereotypy1SATB1 CL E G H630410541OMIM:619229KOHLSCHUTTER-TONZ SYNDROME-LIKE; KTZSL
HP:0004305HP:0001336Myoclonus1SATB1 CL E G H630410541OMIM:619229KOHLSCHUTTER-TONZ SYNDROME-LIKE; KTZSL
HP:0004305HP:0001337Tremor1SATB1 CL E G H630410541OMIM:619229KOHLSCHUTTER-TONZ SYNDROME-LIKE; KTZSL
HP:0004305HP:0001337Tremor1SBF2 CL E G H818462135ORPHA:99956Charcot-Marie-Tooth disease type 4B2180
HP:0004305HP:0001336Myoclonus1SC5D CL E G H630910547ORPHA:46059LathosterolosisHP:0040282 - Frequent80
HP:0004305HP:0001336Myoclonus1SCARB2 CL E G H9501665OMIM:254900Epilepsy, progressive myoclonic, 4, with or without renal failure.77
HP:0004305HP:0001337Tremor1SCARB2 CL E G H9501665OMIM:254900Epilepsy, progressive myoclonic, 4, with or without renal failure77
HP:0004305HP:0001336Myoclonus1SCARB2 CL E G H9501665ORPHA:308Progressive myoclonic epilepsy type 1HP:0040281 - Very frequent77
HP:0004305HP:0001337Tremor1SCARB2 CL E G H9501665ORPHA:308Progressive myoclonic epilepsy type 177
HP:0004305HP:0000733Motor stereotypy1SCN1A CL E G H632310585OMIM:619317DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 6B; DEE6B1053
HP:0004305HP:0001336Myoclonus1SCN1A CL E G H632310585OMIM:619317DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 6B; DEE6B1053
HP:0004305HP:0002072Chorea1SCN1A CL E G H632310585OMIM:619317DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 6B; DEE6B1053
HP:0004305HP:0002305Athetosis1SCN1A CL E G H632310585OMIM:619317DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 6B; DEE6B1053
HP:0004305HP:0001336Myoclonus1SCN1A CL E G H632310585ORPHA:33069Dravet syndromeHP:0040282 - Frequent1053
HP:0004305HP:0001337Tremor1SCN1A CL E G H632310585ORPHA:33069Dravet syndrome1053
HP:0004305HP:0002380Fasciculations1SCN1A CL E G H632310585ORPHA:569Familial or sporadic hemiplegic migraine1053
HP:0004305HP:0032506Alien limb phenomenon1SCN1A CL E G H632310585ORPHA:569Familial or sporadic hemiplegic migraineHP:0040283 - Occasional1053
HP:0004305HP:0001337Tremor1SCN1A CL E G H632310585ORPHA:36387Generalized epilepsy with febrile seizures-plusHP:0040284 - Very rare1053
HP:0004305HP:0001336Myoclonus1SCN1A CL E G H632310585ORPHA:2382Lennox-Gastaut syndromeHP:0040282 - Frequent1053
HP:0004305HP:0001337Tremor1SCN1A CL E G H632310585ORPHA:1942Myoclonic-astatic epilepsyHP:0040283 - Occasional1053
HP:0004305HP:0001336Myoclonus1SCN1B CL E G H632410586ORPHA:33069Dravet syndromeHP:0040282 - Frequent126
HP:0004305HP:0001337Tremor1SCN1B CL E G H632410586ORPHA:33069Dravet syndrome126
HP:0004305HP:0001336Myoclonus1SCN1B CL E G H632410586ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional126
HP:0004305HP:0001337Tremor1SCN1B CL E G H632410586ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional126
HP:0004305HP:0002072Chorea1SCN1B CL E G H632410586ORPHA:1934Early infantile epileptic encephalopathy126
HP:0004305HP:0002305Athetosis1SCN1B CL E G H632410586ORPHA:1934Early infantile epileptic encephalopathy126
HP:0004305HP:0001337Tremor1SCN1B CL E G H632410586ORPHA:36387Generalized epilepsy with febrile seizures-plusHP:0040284 - Very rare126
HP:0004305HP:0001336Myoclonus1SCN2A CL E G H632610588ORPHA:306Benign familial infantile epilepsy427
HP:0004305HP:0001336Myoclonus1SCN2A CL E G H632610588ORPHA:33069Dravet syndromeHP:0040282 - Frequent427
HP:0004305HP:0001337Tremor1SCN2A CL E G H632610588ORPHA:33069Dravet syndrome427
HP:0004305HP:0001336Myoclonus1SCN2A CL E G H632610588ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional427
HP:0004305HP:0001337Tremor1SCN2A CL E G H632610588ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional427
HP:0004305HP:0002072Chorea1SCN2A CL E G H632610588ORPHA:1934Early infantile epileptic encephalopathy427
HP:0004305HP:0002305Athetosis1SCN2A CL E G H632610588ORPHA:1934Early infantile epileptic encephalopathy427
HP:0004305HP:0001337Tremor1SCN2A CL E G H632610588ORPHA:36387Generalized epilepsy with febrile seizures-plusHP:0040284 - Very rare427
HP:0004305HP:0001336Myoclonus1SCN2A CL E G H632610588ORPHA:3451Infantile spasms syndromeHP:0040281 - Very frequent427
HP:0004305HP:0001336Myoclonus1SCN3A CL E G H632810590ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional70
HP:0004305HP:0001337Tremor1SCN3A CL E G H632810590ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional70
HP:0004305HP:0002380Fasciculations1SCN4A CL E G H632910591ORPHA:682Hyperkalemic periodic paralysisHP:0040282 - Frequent263
HP:0004305HP:0001336Myoclonus1SCN8A CL E G H633410596ORPHA:306Benign familial infantile epilepsy357
HP:0004305HP:0002072Chorea1SCN8A CL E G H633410596ORPHA:31709Infantile convulsions and choreoathetosisHP:0040282 - Frequent357
HP:0004305HP:0002305Athetosis1SCN8A CL E G H633410596ORPHA:31709Infantile convulsions and choreoathetosisHP:0040282 - Frequent357
HP:0004305HP:0007166Paroxysmal dyskinesia1SCN8A CL E G H633410596ORPHA:31709Infantile convulsions and choreoathetosisHP:0040282 - Frequent357
HP:0004305HP:0001336Myoclonus1SCN8A CL E G H633410596OMIM:618364MYOCLONUS, FAMILIAL, 2; MYOCL2357
HP:0004305HP:0001336Myoclonus1SCN8A CL E G H633410596ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional357
HP:0004305HP:0001337Tremor1SCN8A CL E G H633410596ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional357
HP:0004305HP:0001336Myoclonus1SCN9A CL E G H633510597ORPHA:33069Dravet syndromeHP:0040282 - Frequent318
HP:0004305HP:0001337Tremor1SCN9A CL E G H633510597ORPHA:33069Dravet syndrome318
HP:0004305HP:0001337Tremor1SCN9A CL E G H633510597ORPHA:36387Generalized epilepsy with febrile seizures-plusHP:0040284 - Very rare318
HP:0004305HP:0002380Fasciculations1SCO2 CL E G H999710604ORPHA:521411Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defectHP:0040282 - Frequent40
HP:0004305HP:0002072Chorea1SCO2 CL E G H999710604ORPHA:70474Leigh syndrome with cardiomyopathyHP:0040283 - Occasional40
HP:0004305HP:0001337Tremor1SCP2 CL E G H634210606OMIM:613724Leukoencephalopathy with dystonia and motor neuropathy4
HP:0004305HP:0001337Tremor1SCYL1 CL E G H5741014372ORPHA:466794Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome5
HP:0004305HP:0001337Tremor1SCYL1 CL E G H5741014372OMIM:616719Spinocerebellar ataxia, autosomal recessive 21.5
HP:0004305HP:0002380Fasciculations1SCYL2 CL E G H5568119286ORPHA:1143Neurogenic arthrogryposis multiplex congenitaHP:0040283 - Occasional
HP:0004305HP:0001337Tremor1SDHA CL E G H638910680ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040283 - Occasional304
HP:0004305HP:0001336Myoclonus1SDHA CL E G H638910680OMIM:252011Mitochondrial complex II deficiency.304
HP:0004305HP:0001337Tremor1SDHAF2 CL E G H5494926034ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040283 - Occasional55
HP:0004305HP:0001337Tremor1SDHB CL E G H639010681ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040283 - Occasional237
HP:0004305HP:0001337Tremor1SDHB CL E G H639010681ORPHA:276621Sporadic pheochromocytoma/secreting paragangliomaHP:0040283 - Occasional237
HP:0004305HP:0001337Tremor1SDHC CL E G H639110682ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040283 - Occasional147
HP:0004305HP:0001337Tremor1SDHD CL E G H639210683ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040283 - Occasional129
HP:0004305HP:0001336Myoclonus1SDHD CL E G H639210683OMIM:619167MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 3; MC2DN3129
HP:0004305HP:0001337Tremor1SDHD CL E G H639210683ORPHA:276621Sporadic pheochromocytoma/secreting paragangliomaHP:0040283 - Occasional129
HP:0004305HP:0002169Clonus1SELENOI CL E G H8546529361ORPHA:506353Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction
HP:0004305HP:0002169Clonus1SELENOI CL E G H8546529361OMIM:618768SPASTIC PARAPLEGIA 81, AUTOSOMAL RECESSIVE; SPG81
HP:0004305HP:0001337Tremor1SEMA3A CL E G H1037110723ORPHA:478Kallmann syndromeHP:0040283 - Occasional14
HP:0004305HP:0001336Myoclonus1SEMA6B CL E G H1050110739OMIM:618876EPILEPSY, PROGRESSIVE MYOCLONIC, 11; EPM11
HP:0004305HP:0001337Tremor1SEMA6B CL E G H1050110739OMIM:618876EPILEPSY, PROGRESSIVE MYOCLONIC, 11; EPM11
HP:0004305HP:0002072Chorea1SEPSECS CL E G H5109130605ORPHA:2524Pontocerebellar hypoplasia type 266
HP:0004305HP:0002305Athetosis1SEPSECS CL E G H5109130605ORPHA:2524Pontocerebellar hypoplasia type 266
HP:0004305HP:0002072Chorea1SEPSECS CL E G H5109130605OMIM:613811Pontocerebellar hypoplasia, type 2D.66
HP:0004305HP:0002169Clonus1SEPSECS CL E G H5109130605OMIM:613811Pontocerebellar hypoplasia, type 2D.66
HP:0004305HP:0001336Myoclonus1SERPINI1 CL E G H52748943OMIM:604218Encephalopathy, familial, with neuroserpin inclusion bodies.28
HP:0004305HP:0001337Tremor1SETD2 CL E G H2907218420ORPHA:821Sotos syndromeHP:0040283 - Occasional60
HP:0004305HP:0002169Clonus1SETX CL E G H23064445OMIM:602433Amyotrophic lateral sclerosis 4, juvenileHP:0040283 - Occasional162
HP:0004305HP:0001337Tremor1SETX CL E G H23064445ORPHA:64753Spinocerebellar ataxia with axonal neuropathy type 2162
HP:0004305HP:0002072Chorea1SETX CL E G H23064445ORPHA:64753Spinocerebellar ataxia with axonal neuropathy type 2162
HP:0004305HP:0002305Athetosis1SETX CL E G H23064445ORPHA:64753Spinocerebellar ataxia with axonal neuropathy type 2162
HP:0004305HP:0001337Tremor1SETX CL E G H23064445OMIM:606002Spinocerebellar ataxia, autosomal recessive 1162
HP:0004305HP:0002072Chorea1SETX CL E G H23064445OMIM:606002Spinocerebellar ataxia, autosomal recessive 1162
HP:0004305HP:0001337Tremor1SFXN4 CL E G H11955916088OMIM:615578Combined oxidative phosphorylation deficiency 18.17
HP:0004305HP:0001336Myoclonus1SGCE CL E G H891010808OMIM:159900Dystonia 11, myoclonic.49
HP:0004305HP:0001337Tremor1SGCE CL E G H891010808OMIM:159900Dystonia 11, myoclonic.49
HP:0004305HP:0001336Myoclonus1SGCE CL E G H891010808ORPHA:36899Myoclonus-dystonia syndromeHP:0040281 - Very frequent49
HP:0004305HP:0000733Motor stereotypy1SH2B1 CL E G H2597030417ORPHA:261197Proximal 16p11.2 microdeletion syndromeHP:0040283 - Occasional
HP:0004305HP:0002072Chorea1SH2B1 CL E G H2597030417ORPHA:261197Proximal 16p11.2 microdeletion syndrome
HP:0004305HP:0002305Athetosis1SH2B1 CL E G H2597030417ORPHA:261197Proximal 16p11.2 microdeletion syndrome
HP:0004305HP:0007166Paroxysmal dyskinesia1SH2B1 CL E G H2597030417ORPHA:261197Proximal 16p11.2 microdeletion syndromeHP:0040283 - Occasional
HP:0004305HP:0001337Tremor1SH3TC2 CL E G H7962829427ORPHA:99949Charcot-Marie-Tooth disease type 4C493
HP:0004305HP:0002380Fasciculations1SH3TC2 CL E G H7962829427ORPHA:99949Charcot-Marie-Tooth disease type 4C493
HP:0004305HP:0002380Fasciculations1SH3TC2 CL E G H7962829427OMIM:601596Charcot-Marie-Tooth disease, type 4C493
HP:0004305HP:0000733Motor stereotypy1SHANK3 CL E G H8535814294OMIM:606232Phelan-Mcdermid syndrome53
HP:0004305HP:0000733Motor stereotypy1SHMT2 CL E G H647210852OMIM:619121NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES; NEDCASB
HP:0004305HP:0002072Chorea1SHQ1 CL E G H5516425543OMIM:619922
HP:0004305HP:0002305Athetosis1SHQ1 CL E G H5516425543OMIM:619922
HP:0004305HP:0001337Tremor1SIGMAR1 CL E G H102808157ORPHA:300605Juvenile amyotrophic lateral sclerosis6
HP:0004305HP:0002072Chorea1SIGMAR1 CL E G H102808157ORPHA:300605Juvenile amyotrophic lateral sclerosisHP:0040283 - Occasional6
HP:0004305HP:0002169Clonus1SIGMAR1 CL E G H102808157ORPHA:300605Juvenile amyotrophic lateral sclerosisHP:0040283 - Occasional6
HP:0004305HP:0000733Motor stereotypy1SIK1 CL E G H15009411142OMIM:616341Deafness, autosomal dominant 6711
HP:0004305HP:0001336Myoclonus1SIK1 CL E G H15009411142ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional11
HP:0004305HP:0001337Tremor1SIK1 CL E G H15009411142ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional11
HP:0004305HP:0002072Chorea1SIK1 CL E G H15009411142ORPHA:1934Early infantile epileptic encephalopathy11
HP:0004305HP:0002305Athetosis1SIK1 CL E G H15009411142ORPHA:1934Early infantile epileptic encephalopathy11
HP:0004305HP:0001336Myoclonus1SIK1 CL E G H15009411142ORPHA:1935Early myoclonic encephalopathyHP:0040281 - Very frequent11
HP:0004305HP:0001336Myoclonus1SIK1 CL E G H15009411142ORPHA:3451Infantile spasms syndromeHP:0040281 - Very frequent11
HP:0004305HP:0000733Motor stereotypy1SKI CL E G H649710896ORPHA:16061p36 deletion syndromeHP:0040282 - Frequent150
HP:0004305HP:0001337Tremor1SLC12A6 CL E G H999010914OMIM:218000Agenesis of the corpus callosum with peripheral neuropathy.163
HP:0004305HP:0001336Myoclonus1SLC13A5 CL E G H28411123089ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional73
HP:0004305HP:0001337Tremor1SLC13A5 CL E G H28411123089ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional73
HP:0004305HP:0002072Chorea1SLC16A2 CL E G H656710923ORPHA:59Allan-Herndon-Dudley syndrome57
HP:0004305HP:0002169Clonus1SLC16A2 CL E G H656710923ORPHA:59Allan-Herndon-Dudley syndrome57
HP:0004305HP:0002169Clonus1SLC16A2 CL E G H656710923OMIM:300523Allan-Herndon-Dudley syndrome.57
HP:0004305HP:0002305Athetosis1SLC16A2 CL E G H656710923ORPHA:59Allan-Herndon-Dudley syndrome57
HP:0004305HP:0002305Athetosis1SLC16A2 CL E G H656710923OMIM:300523Allan-Herndon-Dudley syndrome57
HP:0004305HP:0002305Athetosis1SLC17A5 CL E G H2650310933OMIM:604369Salla disease.78
HP:0004305HP:0001337Tremor1SLC18A2 CL E G H657110935ORPHA:352649Brain dopamine-serotonin vesicular transport diseaseHP:0040281 - Very frequent2
HP:0004305HP:0001337Tremor1SLC18A2 CL E G H657110935OMIM:618049Parkinsonism-Dystonia, infantile, 2.2
HP:0004305HP:0001337Tremor1SLC19A3 CL E G H8070416266OMIM:607483Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2)110
HP:0004305HP:0002072Chorea1SLC19A3 CL E G H8070416266OMIM:607483Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2)110
HP:0004305HP:0001336Myoclonus1SLC1A2 CL E G H650610940ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional3
HP:0004305HP:0001337Tremor1SLC1A2 CL E G H650610940ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional3
HP:0004305HP:0001337Tremor1SLC1A3 CL E G H650710941ORPHA:2131Alternating hemiplegia of childhoodHP:0040283 - Occasional63
HP:0004305HP:0002072Chorea1SLC1A3 CL E G H650710941ORPHA:2131Alternating hemiplegia of childhoodHP:0040283 - Occasional63
HP:0004305HP:0002305Athetosis1SLC1A3 CL E G H650710941ORPHA:2131Alternating hemiplegia of childhood63
HP:0004305HP:0007166Paroxysmal dyskinesia1SLC1A3 CL E G H650710941ORPHA:2131Alternating hemiplegia of childhoodHP:0040283 - Occasional63
HP:0004305HP:0002169Clonus1SLC1A4 CL E G H650910942OMIM:616657Spastic tetraplegia, thin corpus callosum, and progressive microcephaly4
HP:0004305HP:0000733Motor stereotypy1SLC1A4 CL E G H650910942ORPHA:447997Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndromeHP:0040283 - Occasional4
HP:0004305HP:0001336Myoclonus1SLC1A4 CL E G H650910942ORPHA:447997Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome4
HP:0004305HP:0002169Clonus1SLC1A4 CL E G H650910942ORPHA:447997Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndromeHP:0040283 - Occasional4
HP:0004305HP:0001337Tremor1SLC20A2 CL E G H657510947OMIM:213600Basal ganglia calcification, idiopathic, 1.70
HP:0004305HP:0002072Chorea1SLC20A2 CL E G H657510947OMIM:213600Basal ganglia calcification, idiopathic, 1.70
HP:0004305HP:0002305Athetosis1SLC20A2 CL E G H657510947OMIM:213600Basal ganglia calcification, idiopathic, 1.70
HP:0004305HP:0001336Myoclonus1SLC25A10 CL E G H146810980OMIM:618972MITOCHONDRIAL DNA DEPLETION SYNDROME 19; MTDPS19
HP:0004305HP:0001337Tremor1SLC25A11 CL E G H840210981ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040283 - Occasional
HP:0004305HP:0001336Myoclonus1SLC25A12 CL E G H860410982OMIM:612949Epileptic encephalopathy, early infantile, 3944
HP:0004305HP:0001337Tremor1SLC25A13 CL E G H1016510983ORPHA:247585Citrullinemia type IIHP:0040282 - Frequent82
HP:0004305HP:0002169Clonus1SLC25A15 CL E G H1016610985ORPHA:415Hyperornithinemia-hyperammonemia-homocitrullinuria syndromeHP:0040282 - Frequent88
HP:0004305HP:0002169Clonus1SLC25A15 CL E G H1016610985OMIM:238970Hyperornithinemia-Hyperammonemia-Homocitrullinuria syndrome.88
HP:0004305HP:0002169Clonus1SLC25A21 CL E G H8987414411OMIM:618811MITOCHONDRIAL DNA DEPLETION SYNDROME 18; MTDPS18
HP:0004305HP:0002380Fasciculations1SLC25A21 CL E G H8987414411OMIM:618811MITOCHONDRIAL DNA DEPLETION SYNDROME 18; MTDPS18
HP:0004305HP:0001336Myoclonus1SLC25A22 CL E G H7975119954ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional166
HP:0004305HP:0001337Tremor1SLC25A22 CL E G H7975119954ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional166
HP:0004305HP:0002072Chorea1SLC25A22 CL E G H7975119954ORPHA:1934Early infantile epileptic encephalopathy166
HP:0004305HP:0002305Athetosis1SLC25A22 CL E G H7975119954ORPHA:1934Early infantile epileptic encephalopathy166
HP:0004305HP:0001336Myoclonus1SLC25A22 CL E G H7975119954ORPHA:1935Early myoclonic encephalopathyHP:0040281 - Very frequent166
HP:0004305HP:0001337Tremor1SLC25A4 CL E G H29110990ORPHA:254892Autosomal dominant progressive external ophthalmoplegiaHP:0040283 - Occasional68
HP:0004305HP:0002072Chorea1SLC25A42 CL E G H28443928380OMIM:618416Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression1
HP:0004305HP:0002305Athetosis1SLC25A42 CL E G H28443928380OMIM:618416Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression1
HP:0004305HP:0001336Myoclonus1SLC25A46 CL E G H9113725198OMIM:616505Neuropathy, hereditary motor and sensory, type VIB.14
HP:0004305HP:0001337Tremor1SLC25A46 CL E G H9113725198OMIM:616505Neuropathy, hereditary motor and sensory, type VIB.14
HP:0004305HP:0002380Fasciculations1SLC25A46 CL E G H9113725198ORPHA:2254Pontocerebellar hypoplasia type 114
HP:0004305HP:0001336Myoclonus1SLC25A46 CL E G H9113725198OMIM:619303PONTOCEREBELLAR HYPOPLASIA, TYPE 1E; PCH1E14
HP:0004305HP:0000733Motor stereotypy1SLC2A1 CL E G H651311005ORPHA:64280Childhood absence epilepsy255
HP:0004305HP:0001336Myoclonus1SLC2A1 CL E G H651311005ORPHA:64280Childhood absence epilepsy255
HP:0004305HP:0001336Myoclonus1SLC2A1 CL E G H651311005ORPHA:71277Classic glucose transporter type 1 deficiency syndromeHP:0040283 - Occasional255
HP:0004305HP:0002072Chorea1SLC2A1 CL E G H651311005ORPHA:71277Classic glucose transporter type 1 deficiency syndromeHP:0040282 - Frequent255
HP:0004305HP:0002305Athetosis1SLC2A1 CL E G H651311005ORPHA:71277Classic glucose transporter type 1 deficiency syndrome255
HP:0004305HP:0002072Chorea1SLC2A1 CL E G H651311005OMIM:601042Dystonia 9255
HP:0004305HP:0002305Athetosis1SLC2A1 CL E G H651311005OMIM:601042Dystonia 9255
HP:0004305HP:0001336Myoclonus1SLC2A1 CL E G H651311005OMIM:606777Glut1 deficiency syndrome 1.255
HP:0004305HP:0002072Chorea1SLC2A1 CL E G H651311005OMIM:606777Glut1 deficiency syndrome 1255
HP:0004305HP:0002305Athetosis1SLC2A1 CL E G H651311005OMIM:606777Glut1 deficiency syndrome 1255
HP:0004305HP:0001337Tremor1SLC2A1 CL E G H651311005OMIM:612126Glut1 deficiency syndrome 2.255
HP:0004305HP:0002072Chorea1SLC2A1 CL E G H651311005OMIM:612126Glut1 deficiency syndrome 2255
HP:0004305HP:0002305Athetosis1SLC2A1 CL E G H651311005OMIM:612126Glut1 deficiency syndrome 2255
HP:0004305HP:0001337Tremor1SLC2A1 CL E G H651311005ORPHA:1942Myoclonic-astatic epilepsyHP:0040283 - Occasional255
HP:0004305HP:0002072Chorea1SLC2A1 CL E G H651311005ORPHA:53583Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity255
HP:0004305HP:0002305Athetosis1SLC2A1 CL E G H651311005ORPHA:53583Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity255
HP:0004305HP:0007166Paroxysmal dyskinesia1SLC2A1 CL E G H651311005ORPHA:53583Paroxysmal dystonic choreathetosis with episodic ataxia and spasticityHP:0040281 - Very frequent255
HP:0004305HP:0002072Chorea1SLC2A1 CL E G H651311005ORPHA:98811Paroxysmal exertion-induced dyskinesiaHP:0040283 - Occasional255
HP:0004305HP:0002305Athetosis1SLC2A1 CL E G H651311005ORPHA:98811Paroxysmal exertion-induced dyskinesia255
HP:0004305HP:0007166Paroxysmal dyskinesia1SLC2A1 CL E G H651311005ORPHA:98811Paroxysmal exertion-induced dyskinesiaHP:0040281 - Very frequent255
HP:0004305HP:0001336Myoclonus1SLC2A3 CL E G H651511007ORPHA:399Huntington diseaseHP:0040282 - Frequent1
HP:0004305HP:0002072Chorea1SLC2A3 CL E G H651511007ORPHA:399Huntington diseaseHP:0040281 - Very frequent1
HP:0004305HP:0002169Clonus1SLC2A3 CL E G H651511007ORPHA:399Huntington diseaseHP:0040283 - Occasional1
HP:0004305HP:0001337Tremor1SLC30A10 CL E G H5553225355ORPHA:309854Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome42
HP:0004305HP:0001337Tremor1SLC30A10 CL E G H5553225355OMIM:613280Hypermanganesemia with dystonia 1.42
HP:0004305HP:0002072Chorea1SLC30A9 CL E G H104631329OMIM:617595Birk-Landau-Perez syndrome1
HP:0004305HP:0002305Athetosis1SLC30A9 CL E G H104631329OMIM:617595Birk-Landau-Perez syndrome1
HP:0004305HP:0002169Clonus1SLC33A1 CL E G H919795ORPHA:171863Autosomal dominant spastic paraplegia type 42HP:0040282 - Frequent48
HP:0004305HP:0001336Myoclonus1SLC38A3 CL E G H1099118044ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional
HP:0004305HP:0001337Tremor1SLC38A3 CL E G H1099118044ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional
HP:0004305HP:0001337Tremor1SLC39A14 CL E G H2351620858ORPHA:521406Dystonia-parkinsonism-hypermanganesemia syndromeHP:0040282 - Frequent5
HP:0004305HP:0002169Clonus1SLC39A14 CL E G H2351620858ORPHA:521406Dystonia-parkinsonism-hypermanganesemia syndrome5
HP:0004305HP:0001337Tremor1SLC39A14 CL E G H2351620858OMIM:617013Hypermanganesemia with dystonia 2.5
HP:0004305HP:0002169Clonus1SLC39A14 CL E G H2351620858OMIM:617013Hypermanganesemia with dystonia 25
HP:0004305HP:0001337Tremor1SLC39A4 CL E G H5563017129OMIM:201100Acrodermatitis enteropathica, Zinc-Deficiency type.55
HP:0004305HP:0002169Clonus1SLC44A1 CL E G H2344618798OMIM:618868NEURODEGENERATION, CHILDHOOD-ONSET, WITH ATAXIA, TREMOR, OPTIC ATROPHY, AND COGNITIVE DECLINE; CONATOC1
HP:0004305HP:0002305Athetosis1SLC46A1 CL E G H11323530521OMIM:229050Folate malabsorption, hereditary.101
HP:0004305HP:0002380Fasciculations1SLC52A2 CL E G H7958130224OMIM:614707Brown-Vialetto-Van laere syndrome 247
HP:0004305HP:0002169Clonus1SLC52A3 CL E G H11327816187OMIM:211530Brown-Vialetto-Van laere syndrome 151
HP:0004305HP:0002380Fasciculations1SLC52A3 CL E G H11327816187OMIM:211530Brown-Vialetto-Van laere syndrome 151
HP:0004305HP:0001337Tremor1SLC5A7 CL E G H6048214025OMIM:158580Neuronopathy, distal hereditary motor, type VIIAHP:0040283 - Occasional9
HP:0004305HP:0001337Tremor1SLC6A1 CL E G H652911042ORPHA:1942Myoclonic-astatic epilepsyHP:0040283 - Occasional29
HP:0004305HP:0001336Myoclonus1SLC6A1 CL E G H652911042OMIM:616421Myoclonic-Atonic epilepsy29
HP:0004305HP:0001337Tremor1SLC6A1 CL E G H652911042OMIM:616421Myoclonic-Atonic epilepsyHP:0040283 - Occasional29
HP:0004305HP:0001337Tremor1SLC6A17 CL E G H38866231399OMIM:616269Mental retardation, autosomal recessive 4812
HP:0004305HP:0001337Tremor1SLC6A17 CL E G H38866231399ORPHA:457212Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome12
HP:0004305HP:0002072Chorea1SLC6A3 CL E G H653111049ORPHA:238455Infantile dystonia-parkinsonismHP:0040282 - Frequent13
HP:0004305HP:0001337Tremor1SLC6A3 CL E G H653111049OMIM:613135Parkinsonism-Dystonia, infantile, 1.13
HP:0004305HP:0002072Chorea1SLC6A3 CL E G H653111049OMIM:613135Parkinsonism-Dystonia, infantile, 1.13
HP:0004305HP:0001336Myoclonus1SLC6A5 CL E G H915211051ORPHA:3197Hereditary hyperekplexiaHP:0040281 - Very frequent81
HP:0004305HP:0002380Fasciculations1SLC6A5 CL E G H915211051ORPHA:3197Hereditary hyperekplexiaHP:0040281 - Very frequent81
HP:0004305HP:0001336Myoclonus1SLC6A5 CL E G H915211051OMIM:614618Hyperekplexia 381
HP:0004305HP:0000733Motor stereotypy1SLC6A8 CL E G H653511055OMIM:300352Creatine deficiency syndrome, X-linked.122
HP:0004305HP:0002072Chorea1SLC6A8 CL E G H653511055ORPHA:52503X-linked creatine transporter deficiencyHP:0040282 - Frequent122
HP:0004305HP:0002305Athetosis1SLC6A8 CL E G H653511055ORPHA:52503X-linked creatine transporter deficiencyHP:0040282 - Frequent122
HP:0004305HP:0002169Clonus1SLC6A9 CL E G H653611056OMIM:617301Glycine encephalopathy with normal serum glycine4
HP:0004305HP:0001336Myoclonus1SLC7A6OS CL E G H8413825807OMIM:619191EPILEPSY, PROGRESSIVE MYOCLONIC, 12; EPM12
HP:0004305HP:0001337Tremor1SLC9A1 CL E G H654811071OMIM:616291Lichtenstein-Knorr syndrome2
HP:0004305HP:0000733Motor stereotypy1SLC9A6 CL E G H1047911079ORPHA:85278Christianson syndromeHP:0040282 - Frequent93
HP:0004305HP:0100033Tics1SLITRK1 CL E G H11479820297OMIM:137580Gilles de la tourette syndrome58
HP:0004305HP:0000733Motor stereotypy1SMARCA2 CL E G H659511098OMIM:619293BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS146
HP:0004305HP:0001336Myoclonus1SMARCB1 CL E G H659811103ORPHA:2495Meningioma87
HP:0004305HP:0001336Myoclonus1SMARCE1 CL E G H660511109ORPHA:2495Meningioma47
HP:0004305HP:0000733Motor stereotypy1SMC1A CL E G H824311111ORPHA:3095Atypical Rett syndrome135
HP:0004305HP:0001336Myoclonus1SMC1A CL E G H824311111ORPHA:3095Atypical Rett syndrome135
HP:0004305HP:0001337Tremor1SMC1A CL E G H824311111ORPHA:3095Atypical Rett syndromeHP:0040283 - Occasional135
HP:0004305HP:0000733Motor stereotypy1SMC1A CL E G H824311111OMIM:301044DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS; DEE85135
HP:0004305HP:0001337Tremor1SMG9 CL E G H5600625763OMIM:6199952
HP:0004305HP:0002169Clonus1SMG9 CL E G H5600625763OMIM:6199952
HP:0004305HP:0002380Fasciculations1SMN1 CL E G H660611117OMIM:253300Spinal muscular atrophy, type I22
HP:0004305HP:0001337Tremor1SMN1 CL E G H660611117OMIM:253550Spinal muscular atrophy, type II22
HP:0004305HP:0002380Fasciculations1SMN1 CL E G H660611117OMIM:253550Spinal muscular atrophy, type II22
HP:0004305HP:0001337Tremor1SMN1 CL E G H660611117OMIM:253400Spinal muscular atrophy, type III22
HP:0004305HP:0002380Fasciculations1SMN1 CL E G H660611117OMIM:253400Spinal muscular atrophy, type III22
HP:0004305HP:0001337Tremor1SMN1 CL E G H660611117OMIM:271150Spinal muscular atrophy, type IV22
HP:0004305HP:0002380Fasciculations1SMN1 CL E G H660611117OMIM:271150Spinal muscular atrophy, type IV22
HP:0004305HP:0001337Tremor1SMN2 CL E G H660711118OMIM:253400Spinal muscular atrophy, type III1
HP:0004305HP:0002380Fasciculations1SMN2 CL E G H660711118OMIM:253400Spinal muscular atrophy, type III1
HP:0004305HP:0001336Myoclonus1SMO CL E G H660811119ORPHA:2495Meningioma22
HP:0004305HP:0002305Athetosis1SMPD1 CL E G H660911120OMIM:257200Niemann-Pick disease, type A.164
HP:0004305HP:0001336Myoclonus1SMS CL E G H661111123ORPHA:3063X-linked intellectual disability, Snyder typeHP:0040283 - Occasional19
HP:0004305HP:0001337Tremor1SNCA CL E G H662211138ORPHA:411602Hereditary late-onset Parkinson disease65
HP:0004305HP:0001336Myoclonus1SNCA CL E G H662211138OMIM:168601Parkinson disease 1, autosomal dominant.65
HP:0004305HP:0001337Tremor1SNCA CL E G H662211138OMIM:168601Parkinson disease 1, autosomal dominant65
HP:0004305HP:0001336Myoclonus1SNCA CL E G H662211138ORPHA:171695Parkinsonian-pyramidal syndromeHP:0040282 - Frequent65
HP:0004305HP:0001337Tremor1SNCA CL E G H662211138ORPHA:171695Parkinsonian-pyramidal syndrome65
HP:0004305HP:0001337Tremor1SNCA CL E G H662211138ORPHA:2828Young-onset Parkinson diseaseHP:0040282 - Frequent65
HP:0004305HP:0001337Tremor1SNCAIP CL E G H962711139OMIM:168600Parkinson disease, late-onset.35
HP:0004305HP:0001337Tremor1SNORD118 CL E G H72767632952ORPHA:542310Leukoencephalopathy with calcifications and cysts6
HP:0004305HP:0001337Tremor1SNORD118 CL E G H72767632952OMIM:614561Leukoencephalopathy, brain calcifications, and cysts.6
HP:0004305HP:0001337Tremor1SNRPN CL E G H663811164OMIM:105830Angelman syndrome37
HP:0004305HP:0000733Motor stereotypy1SNRPN CL E G H663811164OMIM:209850Autism susceptibility 1.37
HP:0004305HP:0000733Motor stereotypy1SNRPN CL E G H663811164ORPHA:177907Prader-Willi syndrome due to translocationHP:0040283 - Occasional37
HP:0004305HP:0001337Tremor1SNX10 CL E G H2988714974ORPHA:667Autosomal recessive malignant osteopetrosisHP:0040281 - Very frequent2
HP:0004305HP:0002380Fasciculations1SOD1 CL E G H664711179OMIM:105400Amyotrophic lateral sclerosis 1.53
HP:0004305HP:0002169Clonus1SOD1 CL E G H664711179OMIM:618598SPASTIC TETRAPLEGIA AND AXIAL HYPOTONIA, PROGRESSIVE; STAHP53
HP:0004305HP:0002380Fasciculations1SOD1 CL E G H664711179OMIM:618598SPASTIC TETRAPLEGIA AND AXIAL HYPOTONIA, PROGRESSIVE; STAHP53
HP:0004305HP:0001336Myoclonus1SORL1 CL E G H665311185ORPHA:1020Early-onset autosomal dominant Alzheimer diseaseHP:0040281 - Very frequent3
HP:0004305HP:0001337Tremor1SOX10 CL E G H666311190ORPHA:478Kallmann syndromeHP:0040283 - Occasional61
HP:0004305HP:0001336Myoclonus1SOX10 CL E G H666311190OMIM:609136Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease61
HP:0004305HP:0000733Motor stereotypy1SOX5 CL E G H666011201ORPHA:313892Developmental and speech delay due to SOX5 deficiencyHP:0040283 - Occasional11
HP:0004305HP:0002169Clonus1SPART CL E G H2311118514ORPHA:101000Autosomal recessive spastic paraplegia type 2066
HP:0004305HP:0002169Clonus1SPART CL E G H2311118514OMIM:275900Spastic paraplegia 20, autosomal recessive66
HP:0004305HP:0002169Clonus1SPAST CL E G H668311233ORPHA:100985Autosomal dominant spastic paraplegia type 4208
HP:0004305HP:0000733Motor stereotypy1SPATA5 CL E G H16637818119ORPHA:457351Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndromeHP:0040284 - Very rare19
HP:0004305HP:0000733Motor stereotypy1SPEN CL E G H2301317575ORPHA:16061p36 deletion syndromeHP:0040282 - Frequent4
HP:0004305HP:0000733Motor stereotypy1SPEN CL E G H2301317575OMIM:619312RADIO-TARTAGLIA SYNDROME; RATARS4
HP:0004305HP:0001337Tremor1SPEN CL E G H2301317575OMIM:619312RADIO-TARTAGLIA SYNDROME; RATARS4
HP:0004305HP:0002380Fasciculations1SPG11 CL E G H8020811226OMIM:602099Amyotrophic lateral sclerosis 5, juvenile.287
HP:0004305HP:0001337Tremor1SPG11 CL E G H8020811226OMIM:616668Charcot-Marie-Tooth disease, axonal, type 2XHP:0040283 - Occasional287
HP:0004305HP:0001337Tremor1SPG11 CL E G H8020811226ORPHA:300605Juvenile amyotrophic lateral sclerosis287
HP:0004305HP:0002072Chorea1SPG11 CL E G H8020811226ORPHA:300605Juvenile amyotrophic lateral sclerosisHP:0040283 - Occasional287
HP:0004305HP:0002169Clonus1SPG11 CL E G H8020811226ORPHA:300605Juvenile amyotrophic lateral sclerosisHP:0040283 - Occasional287
HP:0004305HP:0002169Clonus1SPG11 CL E G H8020811226OMIM:604360Spastic paraplegia 11, autosomal recessive287
HP:0004305HP:0002072Chorea1SPOP CL E G H840511254OMIM:618829NABAIS SA-DE VRIES SYNDROME, TYPE 2; NSDVS216
HP:0004305HP:0001337Tremor1SPR CL E G H669711257ORPHA:70594Dopa-responsive dystonia due to sepiapterin reductase deficiencyHP:0040282 - Frequent28
HP:0004305HP:0001337Tremor1SPR CL E G H669711257OMIM:612716Dystonia, dopa-responsive, due to sepiapterin reductase deficiency.28
HP:0004305HP:0002072Chorea1SPR CL E G H669711257OMIM:612716Dystonia, dopa-responsive, due to sepiapterin reductase deficiency28
HP:0004305HP:0002305Athetosis1SPR CL E G H669711257OMIM:612716Dystonia, dopa-responsive, due to sepiapterin reductase deficiency28
HP:0004305HP:0001337Tremor1SPRY4 CL E G H8184815533ORPHA:478Kallmann syndromeHP:0040283 - Occasional5
HP:0004305HP:0001336Myoclonus1SPTAN1 CL E G H670911273ORPHA:3451Infantile spasms syndromeHP:0040281 - Very frequent416
HP:0004305HP:0000733Motor stereotypy1SPTBN1 CL E G H671111275OMIM:619475DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0004305HP:0001337Tremor1SPTBN1 CL E G H671111275OMIM:619475DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0004305HP:0100033Tics1SPTBN1 CL E G H671111275OMIM:619475DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0004305HP:0002169Clonus1SPTBN1 CL E G H671111275OMIM:619475DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0004305HP:0001337Tremor1SPTBN2 CL E G H671211276ORPHA:352403Spectrin-associated autosomal recessive cerebellar ataxia126
HP:0004305HP:0001337Tremor1SPTBN2 CL E G H671211276OMIM:600224Spinocerebellar ataxia 5126
HP:0004305HP:0001337Tremor1SPTBN2 CL E G H671211276OMIM:615386Spinocerebellar ataxia, autosomal recessive 14126
HP:0004305HP:0002072Chorea1SPTBN4 CL E G H5773114896OMIM:617519Neurodevelopmental disorder with hypotonia, neuropathy, and deafness3
HP:0004305HP:0002305Athetosis1SPTBN4 CL E G H5773114896OMIM:617519Neurodevelopmental disorder with hypotonia, neuropathy, and deafness3
HP:0004305HP:0001337Tremor1SPTLC1 CL E G H1055811277ORPHA:300605Juvenile amyotrophic lateral sclerosis54
HP:0004305HP:0002072Chorea1SPTLC1 CL E G H1055811277ORPHA:300605Juvenile amyotrophic lateral sclerosisHP:0040283 - Occasional54
HP:0004305HP:0002169Clonus1SPTLC1 CL E G H1055811277ORPHA:300605Juvenile amyotrophic lateral sclerosisHP:0040283 - Occasional54
HP:0004305HP:0001337Tremor1SPTLC1 CL E G H1055811277OMIM:162400Neuropathy, hereditary sensory and autonomic, type IA54
HP:0004305HP:0002380Fasciculations1SPTLC1 CL E G H1055811277OMIM:162400Neuropathy, hereditary sensory and autonomic, type IA54
HP:0004305HP:0000733Motor stereotypy1SQSTM1 CL E G H887811280ORPHA:275864Behavioral variant of frontotemporal dementiaHP:0040281 - Very frequent62
HP:0004305HP:0002380Fasciculations1SQSTM1 CL E G H887811280ORPHA:275864Behavioral variant of frontotemporal dementiaHP:0040283 - Occasional62
HP:0004305HP:0002380Fasciculations1SQSTM1 CL E G H887811280OMIM:616437Frontotemporal dementia and/or amyotrophic lateral sclerosis 3.62
HP:0004305HP:0002380Fasciculations1SQSTM1 CL E G H887811280ORPHA:275872Frontotemporal dementia with motor neuron diseaseHP:0040283 - Occasional62
HP:0004305HP:0001337Tremor1SQSTM1 CL E G H887811280OMIM:617145Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset.62
HP:0004305HP:0001336Myoclonus1ST3GAL3 CL E G H648710866ORPHA:3451Infantile spasms syndromeHP:0040281 - Very frequent41
HP:0004305HP:0001336Myoclonus1ST3GAL5 CL E G H886910872OMIM:609056Salt and pepper developmental regression syndrome.47
HP:0004305HP:0002072Chorea1ST3GAL5 CL E G H886910872OMIM:609056Salt and pepper developmental regression syndrome47
HP:0004305HP:0002305Athetosis1ST3GAL5 CL E G H886910872OMIM:609056Salt and pepper developmental regression syndrome47
HP:0004305HP:0001336Myoclonus1STAMBP CL E G H1061716950OMIM:614261Microcephaly-Capillary malformation syndrome.24
HP:0004305HP:0001336Myoclonus1STARD7 CL E G H5691018063OMIM:607876Epilepsy, familial adult myoclonic, 2
HP:0004305HP:0001337Tremor1STARD7 CL E G H5691018063OMIM:607876Epilepsy, familial adult myoclonic, 2
HP:0004305HP:0001337Tremor1STUB1 CL E G H1027311427ORPHA:412057Autosomal recessive cerebellar ataxia due to STUB1 deficiency14
HP:0004305HP:0002169Clonus1STUB1 CL E G H1027311427ORPHA:412057Autosomal recessive cerebellar ataxia due to STUB1 deficiency14
HP:0004305HP:0001337Tremor1STUB1 CL E G H1027311427OMIM:618093SPINOCEREBELLAR ATAXIA 48; SCA4814
HP:0004305HP:0002072Chorea1STUB1 CL E G H1027311427OMIM:618093SPINOCEREBELLAR ATAXIA 48; SCA4814
HP:0004305HP:0001337Tremor1STUB1 CL E G H1027311427OMIM:615768Spinocerebellar ataxia, autosomal recessive 16HP:0040283 - Occasional14
HP:0004305HP:0002169Clonus1STUB1 CL E G H1027311427OMIM:615768Spinocerebellar ataxia, autosomal recessive 1614
HP:0004305HP:0001336Myoclonus1STX16 CL E G H867511431ORPHA:94089Pseudohypoparathyroidism type 1B86
HP:0004305HP:0001337Tremor1STX1A CL E G H680411433ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0004305HP:0001337Tremor1STX1B CL E G H11275518539ORPHA:36387Generalized epilepsy with febrile seizures-plusHP:0040284 - Very rare9
HP:0004305HP:0001337Tremor1STXBP1 CL E G H681211444OMIM:612164Epileptic encephalopathy, early infantile, 4.237
HP:0004305HP:0002072Chorea1STXBP1 CL E G H681211444OMIM:612164Epileptic encephalopathy, early infantile, 4237
HP:0004305HP:0002305Athetosis1STXBP1 CL E G H681211444OMIM:612164Epileptic encephalopathy, early infantile, 4237
HP:0004305HP:0002305Athetosis1SUCLA2 CL E G H880311448OMIM:612073Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria).66
HP:0004305HP:0001336Myoclonus1SUCLG1 CL E G H880211449ORPHA:17Fatal infantile lactic acidosis with methylmalonic aciduriaHP:0040283 - Occasional60
HP:0004305HP:0002072Chorea1SUCLG1 CL E G H880211449ORPHA:17Fatal infantile lactic acidosis with methylmalonic aciduria60
HP:0004305HP:0002305Athetosis1SUCLG1 CL E G H880211449ORPHA:17Fatal infantile lactic acidosis with methylmalonic aciduria60
HP:0004305HP:0001337Tremor1SUFU CL E G H5168416466ORPHA:475Joubert syndromeHP:0040283 - Occasional124
HP:0004305HP:0001336Myoclonus1SUFU CL E G H5168416466ORPHA:2495Meningioma124
HP:0004305HP:0002072Chorea1SUOX CL E G H682111460OMIM:272300SULFOCYSTEINURIA40
HP:0004305HP:0002305Athetosis1SUOX CL E G H682111460OMIM:272300SULFOCYSTEINURIA40
HP:0004305HP:0002072Chorea1SURF1 CL E G H683411474ORPHA:70474Leigh syndrome with cardiomyopathyHP:0040283 - Occasional73
HP:0004305HP:0002169Clonus1SYNE1 CL E G H2334517089ORPHA:88644Autosomal recessive ataxia, Beauce type1129
HP:0004305HP:0002380Fasciculations1SYNE1 CL E G H2334517089ORPHA:88644Autosomal recessive ataxia, Beauce typeHP:0040282 - Frequent1129
HP:0004305HP:0001337Tremor1SYNGAP1 CL E G H883111497ORPHA:1942Myoclonic-astatic epilepsyHP:0040283 - Occasional108
HP:0004305HP:0001336Myoclonus1SYNGAP1 CL E G H883111497ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional108
HP:0004305HP:0001337Tremor1SYNGAP1 CL E G H883111497ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional108
HP:0004305HP:0000733Motor stereotypy1SYNGAP1 CL E G H883111497ORPHA:544254SYNGAP1-related developmental and epileptic encephalopathy108
HP:0004305HP:0001337Tremor1SYNGAP1 CL E G H883111497ORPHA:544254SYNGAP1-related developmental and epileptic encephalopathyHP:0040283 - Occasional108
HP:0004305HP:0001336Myoclonus1SYNJ1 CL E G H886711503ORPHA:391411Atypical juvenile parkinsonismHP:0040283 - Occasional9
HP:0004305HP:0001337Tremor1SYNJ1 CL E G H886711503ORPHA:391411Atypical juvenile parkinsonism9
HP:0004305HP:0001336Myoclonus1SYNJ1 CL E G H886711503ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional9
HP:0004305HP:0001337Tremor1SYNJ1 CL E G H886711503ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional9
HP:0004305HP:0001337Tremor1SYNJ1 CL E G H886711503OMIM:615530Parkinson disease 20, early-onset.9
HP:0004305HP:0001337Tremor1SYNJ1 CL E G H886711503ORPHA:2828Young-onset Parkinson diseaseHP:0040282 - Frequent9
HP:0004305HP:0000733Motor stereotypy1SYT1 CL E G H685711509OMIM:618218Baker-Gordon syndrome.1
HP:0004305HP:0002072Chorea1SYT1 CL E G H685711509OMIM:618218Baker-Gordon syndrome1
HP:0004305HP:0002305Athetosis1SYT1 CL E G H685711509OMIM:618218Baker-Gordon syndrome1
HP:0004305HP:0000733Motor stereotypy1SYT1 CL E G H685711509ORPHA:522077Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndromeHP:0040282 - Frequent1
HP:0004305HP:0100248Hemiballismus1SYT1 CL E G H685711509ORPHA:522077Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndromeHP:0040283 - Occasional1
HP:0004305HP:0002072Chorea1SYT1 CL E G H685711509ORPHA:522077Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndromeHP:0040283 - Occasional1
HP:0004305HP:0002305Athetosis1SYT1 CL E G H685711509ORPHA:522077Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome1
HP:0004305HP:0002380Fasciculations1SYT2 CL E G H12783311510OMIM:619461MYASTHENIC SYNDROME, CONGENITAL, 7B, PRESYNAPTIC, AUTOSOMAL RECESSIVE; CMS7B4
HP:0004305HP:0001336Myoclonus1SZT2 CL E G H2333429040ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional123
HP:0004305HP:0001337Tremor1SZT2 CL E G H2333429040ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional123
HP:0004305HP:0001337Tremor1TACR3 CL E G H687011528ORPHA:478Kallmann syndromeHP:0040283 - Occasional34
HP:0004305HP:0001336Myoclonus1TAF1 CL E G H687211535OMIM:314250Dystonia 3, torsion, X-linked.21
HP:0004305HP:0001337Tremor1TAF1 CL E G H687211535OMIM:314250Dystonia 3, torsion, X-linked.21
HP:0004305HP:0002072Chorea1TAF1 CL E G H687211535OMIM:314250Dystonia 3, torsion, X-linked.21
HP:0004305HP:0001337Tremor1TAF1 CL E G H687211535OMIM:300966MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS3321
HP:0004305HP:0001336Myoclonus1TAF1 CL E G H687211535ORPHA:53351X-linked dystonia-parkinsonismHP:0040282 - Frequent21
HP:0004305HP:0001337Tremor1TAF1 CL E G H687211535ORPHA:53351X-linked dystonia-parkinsonism21
HP:0004305HP:0002072Chorea1TAF1 CL E G H687211535ORPHA:53351X-linked dystonia-parkinsonismHP:0040282 - Frequent21
HP:0004305HP:0001337Tremor1TAF1 CL E G H687211535ORPHA:480907X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndromeHP:0040283 - Occasional21
HP:0004305HP:0000733Motor stereotypy1TANC2 CL E G H2611530212OMIM:618906INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISTIC FEATURES AND LANGUAGE DELAY, WITH OR WITHOUT SEIZURES; IDDALDS
HP:0004305HP:0002169Clonus1TANGO2 CL E G H12898925439OMIM:616878Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration.12
HP:0004305HP:0002169Clonus1TANGO2 CL E G H12898925439ORPHA:480864Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndromeHP:0040283 - Occasional12
HP:0004305HP:0000733Motor stereotypy1TAOK1 CL E G H5755129259OMIM:619575DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES; DDIB
HP:0004305HP:0000733Motor stereotypy1TARDBP CL E G H2343511571OMIM:612069Amyotrophic lateral sclerosis 10 with or without frontotemporal dementia.65
HP:0004305HP:0002380Fasciculations1TARDBP CL E G H2343511571ORPHA:275872Frontotemporal dementia with motor neuron diseaseHP:0040283 - Occasional65
HP:0004305HP:0001337Tremor1TARS1 CL E G H689711572ORPHA:33364Trichothiodystrophy
HP:0004305HP:0001337Tremor1TAT CL E G H689811573ORPHA:28378Tyrosinemia type 2HP:0040283 - Occasional43
HP:0004305HP:0000733Motor stereotypy1TBC1D23 CL E G H5577325622OMIM:617695Pontocerebellar hypoplasia, type 11.
HP:0004305HP:0001336Myoclonus1TBC1D24 CL E G H5746529203ORPHA:79500DOORS syndromeHP:0040283 - Occasional271
HP:0004305HP:0001336Myoclonus1TBC1D24 CL E G H5746529203OMIM:608105Epilepsy, rolandic, with paroxysmal exercise-induced dystonia and writer's cramp.271
HP:0004305HP:0001337Tremor1TBC1D24 CL E G H5746529203OMIM:608105Epilepsy, rolandic, with paroxysmal exercise-induced dystonia and writer's cramp.271
HP:0004305HP:0001336Myoclonus1TBC1D24 CL E G H5746529203OMIM:615338Epileptic encephalopathy, early infantile, 16.271
HP:0004305HP:0001336Myoclonus1TBC1D24 CL E G H5746529203ORPHA:352582Familial infantile myoclonic epilepsy271
HP:0004305HP:0001336Myoclonus1TBC1D24 CL E G H5746529203ORPHA:352596Progressive myoclonic epilepsy with dystoniaHP:0040281 - Very frequent271
HP:0004305HP:0000733Motor stereotypy1TBCD CL E G H690411581ORPHA:496641Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndromeHP:0040284 - Very rare16
HP:0004305HP:0002380Fasciculations1TBCD CL E G H690411581ORPHA:496641Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndromeHP:0040283 - Occasional16
HP:0004305HP:0002380Fasciculations1TBCD CL E G H690411581OMIM:617193ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM; PEBAT16
HP:0004305HP:0002380Fasciculations1TBK1 CL E G H2911011584OMIM:616439Frontotemporal dementia and/or amyotrophic lateral sclerosis 4.20
HP:0004305HP:0002380Fasciculations1TBK1 CL E G H2911011584ORPHA:275872Frontotemporal dementia with motor neuron diseaseHP:0040283 - Occasional20
HP:0004305HP:0001337Tremor1TBL2 CL E G H2660811586ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0004305HP:0001337Tremor1TBP CL E G H690811588OMIM:168600Parkinson disease, late-onset.7
HP:0004305HP:0001336Myoclonus1TBP CL E G H690811588OMIM:607136Spinocerebellar ataxia 17.7
HP:0004305HP:0001337Tremor1TBP CL E G H690811588OMIM:607136Spinocerebellar ataxia 177
HP:0004305HP:0002072Chorea1TBP CL E G H690811588OMIM:607136Spinocerebellar ataxia 177
HP:0004305HP:0002072Chorea1TBP CL E G H690811588ORPHA:98759Spinocerebellar ataxia type 17HP:0040282 - Frequent7
HP:0004305HP:0000733Motor stereotypy1TBR1 CL E G H1071611590OMIM:606053Intellectual developmental disorder with autism and speech delay.1
HP:0004305HP:0000733Motor stereotypy1TBX1 CL E G H689911592ORPHA:172722q11.2 duplication syndromeHP:0040283 - Occasional32
HP:0004305HP:0000733Motor stereotypy1TCF20 CL E G H694211631OMIM:618430Developmental delay with variable intellectual impairment and behavioral abnormalities1
HP:0004305HP:0000733Motor stereotypy1TCF4 CL E G H692511634OMIM:610954Pitt-Hopkins syndrome241
HP:0004305HP:0001337Tremor1TCIRG1 CL E G H1031211647ORPHA:667Autosomal recessive malignant osteopetrosisHP:0040281 - Very frequent82
HP:0004305HP:0001337Tremor1TCTN1 CL E G H7960026113ORPHA:475Joubert syndromeHP:0040283 - Occasional45
HP:0004305HP:0001337Tremor1TCTN2 CL E G H7986725774ORPHA:475Joubert syndromeHP:0040283 - Occasional76
HP:0004305HP:0001337Tremor1TCTN3 CL E G H2612324519ORPHA:2754Orofaciodigital syndrome type 6HP:0040283 - Occasional31
HP:0004305HP:0001337Tremor1TECR CL E G H95244551OMIM:614020Mental retardation, autosomal recessive 1417
HP:0004305HP:0001337Tremor1TENM4 CL E G H2601129945OMIM:616736Tremor, hereditary essential, 55
HP:0004305HP:0001336Myoclonus1TERT CL E G H701511730ORPHA:2495Meningioma238
HP:0004305HP:0000733Motor stereotypy1TFE3 CL E G H703011752OMIM:301066INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES; MRXSPF
HP:0004305HP:0001337Tremor1TFG CL E G H1034211758ORPHA:90117Hereditary motor and sensory neuropathy, Okinawa typeHP:0040282 - Frequent18
HP:0004305HP:0002380Fasciculations1TFG CL E G H1034211758ORPHA:90117Hereditary motor and sensory neuropathy, Okinawa type18
HP:0004305HP:0001337Tremor1TFG CL E G H1034211758OMIM:604484Neuropathy, hereditary motor and sensory, Okinawa type18
HP:0004305HP:0002380Fasciculations1TFG CL E G H1034211758OMIM:604484Neuropathy, hereditary motor and sensory, Okinawa type.18
HP:0004305HP:0001337Tremor1TGM6 CL E G H34364116255OMIM:613908Spinocerebellar ataxia 3558
HP:0004305HP:0001337Tremor1TGM6 CL E G H34364116255ORPHA:276193Spinocerebellar ataxia type 3558
HP:0004305HP:0001336Myoclonus1TH CL E G H705411782ORPHA:101150Autosomal recessive dopa-responsive dystoniaHP:0040282 - Frequent80
HP:0004305HP:0001337Tremor1TH CL E G H705411782ORPHA:101150Autosomal recessive dopa-responsive dystonia80
HP:0004305HP:0001336Myoclonus1TH CL E G H705411782OMIM:605407Segawa syndrome, autosomal recessive80
HP:0004305HP:0001337Tremor1TH CL E G H705411782OMIM:605407Segawa syndrome, autosomal recessive.80
HP:0004305HP:0001336Myoclonus1THAP1 CL E G H5514520856OMIM:602629Dystonia 6, torsionHP:0040283 - Occasional42
HP:0004305HP:0001337Tremor1THG1L CL E G H5497426053OMIM:618800SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 28; SCAR28
HP:0004305HP:0001337Tremor1THOC2 CL E G H5718719073OMIM:300957Mental retardation, X-linked 12/355
HP:0004305HP:0000733Motor stereotypy1THOC2 CL E G H5718719073ORPHA:457240X-linked intellectual disability-short stature-overweight syndromeHP:0040283 - Occasional5
HP:0004305HP:0001337Tremor1THOC2 CL E G H5718719073ORPHA:457240X-linked intellectual disability-short stature-overweight syndromeHP:0040282 - Frequent5
HP:0004305HP:0002169Clonus1TIMM50 CL E G H9260923656ORPHA:5052163-methylglutaconic aciduria type 9HP:0040281 - Very frequent1
HP:0004305HP:0002072Chorea1TIMM50 CL E G H9260923656OMIM:6176983-methylglutaconic aciduria, type IX1
HP:0004305HP:0002169Clonus1TIMM50 CL E G H9260923656OMIM:6176983-methylglutaconic aciduria, type IXHP:0040284 - Very rare1
HP:0004305HP:0002305Athetosis1TIMM50 CL E G H9260923656OMIM:6176983-methylglutaconic aciduria, type IX1
HP:0004305HP:0001337Tremor1TIMM8A CL E G H167811817OMIM:304700Mohr-Tranebjaerg syndrome.15
HP:0004305HP:0001337Tremor1TIMM8A CL E G H167811817ORPHA:52368Mohr-Tranebjaerg syndromeHP:0040283 - Occasional15
HP:0004305HP:0002169Clonus1TIMM8A CL E G H167811817ORPHA:52368Mohr-Tranebjaerg syndrome15
HP:0004305HP:0001336Myoclonus1TIMMDC1 CL E G H513001321OMIM:618251MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 31; MC1DN311
HP:0004305HP:0001337Tremor1TK2 CL E G H708411831ORPHA:254886Autosomal recessive progressive external ophthalmoplegia103
HP:0004305HP:0000733Motor stereotypy1TKT CL E G H708611834OMIM:617044Short stature, developmental delay, and congenital heart defects.4
HP:0004305HP:0000733Motor stereotypy1TKT CL E G H708611834ORPHA:488618Transketolase deficiencyHP:0040283 - Occasional4
HP:0004305HP:0002072Chorea1TLR7 CL E G H5128415631OMIM:301080
HP:0004305HP:0001337Tremor1TMCO1 CL E G H5449918188OMIM:213980Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome6
HP:0004305HP:0000733Motor stereotypy1TMEM106B CL E G H5466422407ORPHA:275864Behavioral variant of frontotemporal dementiaHP:0040281 - Very frequent
HP:0004305HP:0002380Fasciculations1TMEM106B CL E G H5466422407ORPHA:275864Behavioral variant of frontotemporal dementiaHP:0040283 - Occasional
HP:0004305HP:0001337Tremor1TMEM106B CL E G H5466422407OMIM:617964Leukodystrophy, hypomyelinating, 16
HP:0004305HP:0002072Chorea1TMEM106B CL E G H5466422407OMIM:617964Leukodystrophy, hypomyelinating, 16
HP:0004305HP:0002305Athetosis1TMEM106B CL E G H5466422407OMIM:617964Leukodystrophy, hypomyelinating, 16
HP:0004305HP:0001337Tremor1TMEM127 CL E G H5565426038ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040283 - Occasional131
HP:0004305HP:0001337Tremor1TMEM216 CL E G H5125925018ORPHA:2754Orofaciodigital syndrome type 6HP:0040283 - Occasional45
HP:0004305HP:0001337Tremor1TMEM218 CL E G H21985427344ORPHA:475Joubert syndromeHP:0040283 - Occasional
HP:0004305HP:0000733Motor stereotypy1TMEM222 CL E G H8406525363OMIM:619470NEURODEVELOPMENTAL DISORDER WITH MOTOR AND SPEECH DELAY AND BEHAVIORAL ABNORMALITIES; NEDMOSBA
HP:0004305HP:0001337Tremor1TMEM222 CL E G H8406525363OMIM:619470NEURODEVELOPMENTAL DISORDER WITH MOTOR AND SPEECH DELAY AND BEHAVIORAL ABNORMALITIES; NEDMOSBA
HP:0004305HP:0001336Myoclonus1TMEM231 CL E G H7958337234ORPHA:2752Orofaciodigital syndrome type 3HP:0040282 - Frequent33
HP:0004305HP:0001337Tremor1TMEM237 CL E G H6506214432ORPHA:475Joubert syndromeHP:0040283 - Occasional82
HP:0004305HP:0001337Tremor1TMEM237 CL E G H6506214432ORPHA:220497Joubert syndrome with renal defectHP:0040283 - Occasional82
HP:0004305HP:0001337Tremor1TMEM240 CL E G H33945325186OMIM:607454Spinocerebellar ataxia 219
HP:0004305HP:0001337Tremor1TMEM240 CL E G H33945325186ORPHA:98773Spinocerebellar ataxia type 21HP:0040282 - Frequent9
HP:0004305HP:0001337Tremor1TMEM270 CL E G H13588623018ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0004305HP:0001337Tremor1TMEM63A CL E G H972529118OMIM:618688LEUKODYSTROPHY, HYPOMYELINATING, 19, TRANSIENT INFANTILE; HLD19
HP:0004305HP:0001337Tremor1TMEM67 CL E G H9114728396ORPHA:475Joubert syndromeHP:0040283 - Occasional166
HP:0004305HP:0000733Motor stereotypy1TMEM67 CL E G H9114728396OMIM:610688Joubert syndrome 6166
HP:0004305HP:0001337Tremor1TMEM67 CL E G H9114728396ORPHA:1454Joubert syndrome with hepatic defectHP:0040283 - Occasional166
HP:0004305HP:0001337Tremor1TMEM70 CL E G H5496826050OMIM:614052Mitochondrial complex V (atp synthase) deficiency, nuclear type 2.63
HP:0004305HP:0002072Chorea1TNFAIP3 CL E G H712811896OMIM:616744AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE; AISBL26
HP:0004305HP:0001337Tremor1TNFRSF1B CL E G H713311917ORPHA:3162Sézary syndromeHP:0040283 - Occasional
HP:0004305HP:0001337Tremor1TNFSF11 CL E G H860011926ORPHA:667Autosomal recessive malignant osteopetrosisHP:0040281 - Very frequent44
HP:0004305HP:0001337Tremor1TNNT1 CL E G H713811948ORPHA:98902Amish nemaline myopathyHP:0040282 - Frequent37
HP:0004305HP:0001337Tremor1TNNT1 CL E G H713811948OMIM:605355NEMALINE MYOPATHY 5; NEM537
HP:0004305HP:0001337Tremor1TNPO2 CL E G H3000019998OMIM:619556INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA, IMPAIRED SPEECH, AND DYSMORPHIC FACIES; IDDHISD
HP:0004305HP:0002072Chorea1TNR CL E G H714311953OMIM:619653NEURODEVELOPMENTAL DISORDER, NONPROGRESSIVE, WITH SPASTICITY AND TRANSIENT OPISTHOTONUS; NEDSTO7
HP:0004305HP:0002305Athetosis1TNR CL E G H714311953OMIM:619653NEURODEVELOPMENTAL DISORDER, NONPROGRESSIVE, WITH SPASTICITY AND TRANSIENT OPISTHOTONUS; NEDSTO7
HP:0004305HP:0001336Myoclonus1TNRC6A CL E G H2732711969OMIM:618074EPILEPSY, FAMILIAL ADULT MYOCLONIC, 6; FAME6
HP:0004305HP:0001336Myoclonus1TOE1 CL E G H11403415954ORPHA:284339Pontocerebellar hypoplasia type 7HP:0040283 - Occasional6
HP:0004305HP:0002380Fasciculations1TOE1 CL E G H11403415954ORPHA:284339Pontocerebellar hypoplasia type 7HP:0040282 - Frequent6
HP:0004305HP:0001336Myoclonus1TOE1 CL E G H11403415954OMIM:614969Pontocerebellar hypoplasia, type 7.6
HP:0004305HP:0002072Chorea1TOE1 CL E G H11403415954OMIM:614969Pontocerebellar hypoplasia, type 76
HP:0004305HP:0002305Athetosis1TOE1 CL E G H11403415954OMIM:614969Pontocerebellar hypoplasia, type 76
HP:0004305HP:0002380Fasciculations1TOE1 CL E G H11403415954OMIM:614969Pontocerebellar hypoplasia, type 76
HP:0004305HP:0001337Tremor1TOGARAM1 CL E G H2311619959ORPHA:475Joubert syndromeHP:0040283 - Occasional
HP:0004305HP:0001336Myoclonus1TOMM40 CL E G H1045218001ORPHA:1020Early-onset autosomal dominant Alzheimer diseaseHP:0040281 - Very frequent
HP:0004305HP:0001337Tremor1TOPORS CL E G H1021021653ORPHA:2754Orofaciodigital syndrome type 6HP:0040283 - Occasional61
HP:0004305HP:0001337Tremor1TOR1A CL E G H18613098OMIM:618947ARTHROGRYPOSIS MULTIPLEX CONGENITA 5; AMC547
HP:0004305HP:0001337Tremor1TOR1A CL E G H18613098OMIM:128100Dystonia 1, torsion, autosomal dominant.47
HP:0004305HP:0001336Myoclonus1TOR1A CL E G H18613098ORPHA:36899Myoclonus-dystonia syndromeHP:0040281 - Very frequent47
HP:0004305HP:0001337Tremor1TPI1 CL E G H716712009OMIM:615512Triosephosphate isomerase deficiency.28
HP:0004305HP:0001337Tremor1TPK1 CL E G H2701017358OMIM:614458Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type)21
HP:0004305HP:0001336Myoclonus1TPP1 CL E G H12002073OMIM:204500Ceroid lipofuscinosis, neuronal, 2.203
HP:0004305HP:0001337Tremor1TPP1 CL E G H12002073ORPHA:284324Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia203
HP:0004305HP:0001337Tremor1TPP1 CL E G H12002073OMIM:609270Spinocerebellar ataxia, autosomal recessive 7203
HP:0004305HP:0001336Myoclonus1TRAF7 CL E G H8423120456ORPHA:2495Meningioma
HP:0004305HP:0001336Myoclonus1TRAK1 CL E G H2290629947OMIM:618201Epileptic encephalopathy, early infantile, 68.
HP:0004305HP:0002169Clonus1TRAK1 CL E G H2290629947OMIM:618201Epileptic encephalopathy, early infantile, 68.
HP:0004305HP:0001336Myoclonus1TRAK1 CL E G H2290629947ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional
HP:0004305HP:0001337Tremor1TRAK1 CL E G H2290629947ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional
HP:0004305HP:0002072Chorea1TRAPPC11 CL E G H6068425751ORPHA:369847Intellectual disability-hyperkinetic movement-truncal ataxia syndromeHP:0040282 - Frequent27
HP:0004305HP:0001337Tremor1TRAPPC11 CL E G H6068425751OMIM:615356Muscular dystrophy, limb-girdle, autosomal recessive 18.27
HP:0004305HP:0002072Chorea1TRAPPC11 CL E G H6068425751OMIM:615356Muscular dystrophy, limb-girdle, autosomal recessive 18.27
HP:0004305HP:0002305Athetosis1TRAPPC11 CL E G H6068425751OMIM:615356Muscular dystrophy, limb-girdle, autosomal recessive 18.27
HP:0004305HP:0002072Chorea1TRAPPC11 CL E G H6068425751ORPHA:369840TRAPPC11-related limb-girdle muscular dystrophy R18HP:0040283 - Occasional27
HP:0004305HP:0001336Myoclonus1TRAPPC12 CL E G H5111224284ORPHA:500144Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndromeHP:0040282 - Frequent2
HP:0004305HP:0001336Myoclonus1TRAPPC12 CL E G H5111224284OMIM:617669Encephalopathy, progressive, early-onset, with brain atrophy and spasticity.2
HP:0004305HP:0000733Motor stereotypy1TRAPPC6B CL E G H12255323066OMIM:617862Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy.
HP:0004305HP:0001337Tremor1TRAPPC6B CL E G H12255323066OMIM:617862Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy.
HP:0004305HP:0000733Motor stereotypy1TRAPPC9 CL E G H8369630832OMIM:613192Mental retardation, autosomal recessive 13158
HP:0004305HP:0000733Motor stereotypy1TREM2 CL E G H5420917761ORPHA:275864Behavioral variant of frontotemporal dementiaHP:0040281 - Very frequent31
HP:0004305HP:0002380Fasciculations1TREM2 CL E G H5420917761ORPHA:275864Behavioral variant of frontotemporal dementiaHP:0040283 - Occasional31
HP:0004305HP:0001336Myoclonus1TREM2 CL E G H5420917761ORPHA:1020Early-onset autosomal dominant Alzheimer diseaseHP:0040281 - Very frequent31
HP:0004305HP:0002072Chorea1TREM2 CL E G H5420917761ORPHA:2770Nasu-Hakola diseaseHP:0040282 - Frequent31
HP:0004305HP:0001336Myoclonus1TREM2 CL E G H5420917761OMIM:618193POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 2; PLOSL231
HP:0004305HP:0001337Tremor1TREX1 CL E G H1127712269ORPHA:51Aicardi-Goutières syndromeHP:0040283 - Occasional56
HP:0004305HP:0001336Myoclonus1TRIM8 CL E G H8160315579ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional1
HP:0004305HP:0001337Tremor1TRIM8 CL E G H8160315579ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional1
HP:0004305HP:0002072Chorea1TRIM8 CL E G H8160315579ORPHA:1934Early infantile epileptic encephalopathy1
HP:0004305HP:0002305Athetosis1TRIM8 CL E G H8160315579ORPHA:1934Early infantile epileptic encephalopathy1
HP:0004305HP:0000733Motor stereotypy1TRIM8 CL E G H8160315579OMIM:619428FOCAL SEGMENTAL GLOMERULOSCLEROSIS AND NEURODEVELOPMENTAL SYNDROME; FSGSNEDS1
HP:0004305HP:0001337Tremor1TRIM8 CL E G H8160315579OMIM:619428FOCAL SEGMENTAL GLOMERULOSCLEROSIS AND NEURODEVELOPMENTAL SYNDROME; FSGSNEDS1
HP:0004305HP:0000733Motor stereotypy1TRIO CL E G H720412303OMIM:618825INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 63, WITH MACROCEPHALY; MRD638
HP:0004305HP:0000733Motor stereotypy1TRIO CL E G H720412303OMIM:617061Mental retardation, autosomal dominant 448
HP:0004305HP:0001337Tremor1TRIO CL E G H720412303OMIM:617061Mental retardation, autosomal dominant 448
HP:0004305HP:0000733Motor stereotypy1TRIO CL E G H720412303ORPHA:476126Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndromeHP:0040283 - Occasional8
HP:0004305HP:0001337Tremor1TRIO CL E G H720412303ORPHA:476126Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndromeHP:0040283 - Occasional8
HP:0004305HP:0001337Tremor1TRMT5 CL E G H5757023141OMIM:616539Combined oxidative phosphorylation deficiency 264
HP:0004305HP:0001336Myoclonus1TRNF CL E G H45587481ORPHA:550MELASHP:0040282 - Frequent
HP:0004305HP:0001336Myoclonus1TRNF CL E G H45587481OMIM:545000Myoclonic epilepsy associated with ragged-red fibers.
HP:0004305HP:0001336Myoclonus1TRNH CL E G H45647487ORPHA:550MELASHP:0040282 - Frequent
HP:0004305HP:0001336Myoclonus1TRNI CL E G H45657488OMIM:545000Myoclonic epilepsy associated with ragged-red fibers.
HP:0004305HP:0002072Chorea1TRNK CL E G H45667489ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040282 - Frequent
HP:0004305HP:0001336Myoclonus1TRNK CL E G H45667489OMIM:545000Myoclonic epilepsy associated with ragged-red fibers.
HP:0004305HP:0001336Myoclonus1TRNL1 CL E G H45677490ORPHA:550MELASHP:0040282 - Frequent
HP:0004305HP:0002072Chorea1TRNL1 CL E G H45677490ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040282 - Frequent
HP:0004305HP:0001336Myoclonus1TRNL1 CL E G H45677490OMIM:545000Myoclonic epilepsy associated with ragged-red fibers.
HP:0004305HP:0001336Myoclonus1TRNP CL E G H45717494OMIM:545000Myoclonic epilepsy associated with ragged-red fibers.
HP:0004305HP:0001336Myoclonus1TRNQ CL E G H45727495ORPHA:550MELASHP:0040282 - Frequent
HP:0004305HP:0001336Myoclonus1TRNS1 CL E G H45747497ORPHA:550MELASHP:0040282 - Frequent
HP:0004305HP:0001336Myoclonus1TRNS2 CL E G H45757498ORPHA:550MELASHP:0040282 - Frequent
HP:0004305HP:0001337Tremor1TRNT CL E G H45767499OMIM:168600Parkinson disease, late-onset.
HP:0004305HP:0002072Chorea1TRNV CL E G H45777500ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040282 - Frequent
HP:0004305HP:0001336Myoclonus1TRNW CL E G H45787501ORPHA:550MELASHP:0040282 - Frequent
HP:0004305HP:0002072Chorea1TRNW CL E G H45787501ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040282 - Frequent
HP:0004305HP:0000733Motor stereotypy1TSC1 CL E G H724812362ORPHA:805Tuberous sclerosis complex1090
HP:0004305HP:0000733Motor stereotypy1TSC2 CL E G H724912363ORPHA:805Tuberous sclerosis complex2738
HP:0004305HP:0002072Chorea1TSEN15 CL E G H11646116791ORPHA:2524Pontocerebellar hypoplasia type 23
HP:0004305HP:0002305Athetosis1TSEN15 CL E G H11646116791ORPHA:2524Pontocerebellar hypoplasia type 23
HP:0004305HP:0002072Chorea1TSEN2 CL E G H8074628422ORPHA:2524Pontocerebellar hypoplasia type 284
HP:0004305HP:0002305Athetosis1TSEN2 CL E G H8074628422ORPHA:2524Pontocerebellar hypoplasia type 284
HP:0004305HP:0002072Chorea1TSEN2 CL E G H8074628422OMIM:612389Pontocerebellar hypoplasia, type 2B.84
HP:0004305HP:0002169Clonus1TSEN2 CL E G H8074628422OMIM:612389Pontocerebellar hypoplasia, type 2B.84
HP:0004305HP:0002072Chorea1TSEN34 CL E G H7904215506ORPHA:2524Pontocerebellar hypoplasia type 257
HP:0004305HP:0002305Athetosis1TSEN34 CL E G H7904215506ORPHA:2524Pontocerebellar hypoplasia type 257
HP:0004305HP:0002072Chorea1TSEN34 CL E G H7904215506OMIM:612390PONTOCEREBELLAR HYPOPLASIA, TYPE 2C; PCH2C57
HP:0004305HP:0002072Chorea1TSEN54 CL E G H28398927561ORPHA:2524Pontocerebellar hypoplasia type 2102
HP:0004305HP:0002305Athetosis1TSEN54 CL E G H28398927561ORPHA:2524Pontocerebellar hypoplasia type 2102
HP:0004305HP:0001336Myoclonus1TSEN54 CL E G H28398927561ORPHA:166063Pontocerebellar hypoplasia type 4HP:0040282 - Frequent102
HP:0004305HP:0002072Chorea1TSEN54 CL E G H28398927561OMIM:277470Pontocerebellar hypoplasia, type 2A102
HP:0004305HP:0001336Myoclonus1TSEN54 CL E G H28398927561OMIM:225753Pontocerebellar hypoplasia, type 4.102
HP:0004305HP:0001337Tremor1TSFM CL E G H1010212367OMIM:610505Combined oxidative phosphorylation deficiency 3.43
HP:0004305HP:0001337Tremor1TSHR CL E G H725312373ORPHA:99819Familial gestational hyperthyroidism97
HP:0004305HP:0001337Tremor1TSHR CL E G H725312373ORPHA:424Familial hyperthyroidism due to mutations in TSH receptor97
HP:0004305HP:0001336Myoclonus1TSPOAP1 CL E G H925616831ORPHA:101150Autosomal recessive dopa-responsive dystoniaHP:0040282 - Frequent2
HP:0004305HP:0001337Tremor1TSPOAP1 CL E G H925616831ORPHA:101150Autosomal recessive dopa-responsive dystonia2
HP:0004305HP:0002380Fasciculations1TSPYL1 CL E G H725912382OMIM:608800Sudden infant death with dysgenesis of the testes syndrome1
HP:0004305HP:0001336Myoclonus1TSPYL1 CL E G H725912382ORPHA:168593Sudden infant death-dysgenesis of the testes syndromeHP:0040282 - Frequent1
HP:0004305HP:0001337Tremor1TTC19 CL E G H5490226006OMIM:615157Mitochondrial complex III deficiency, nuclear type 2.88
HP:0004305HP:0000733Motor stereotypy1TTI2 CL E G H8018526262OMIM:615541Mental retardation, autosomal recessive 39.11
HP:0004305HP:0000733Motor stereotypy1TTI2 CL E G H8018526262ORPHA:391307Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndromeHP:0040282 - Frequent11
HP:0004305HP:0001337Tremor1TTPA CL E G H727412404ORPHA:96Ataxia with vitamin E deficiencyHP:0040283 - Occasional62
HP:0004305HP:0001337Tremor1TTR CL E G H727612405OMIM:105210Amyloidosis, hereditary, transthyretin-related.107
HP:0004305HP:0000733Motor stereotypy1TUBB3 CL E G H1038120772ORPHA:300570Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutationHP:0040283 - Occasional64
HP:0004305HP:0001337Tremor1TUBB4A CL E G H1038220774OMIM:612438Leukodystrophy, hypomyelinating, 6.66
HP:0004305HP:0002072Chorea1TUBB4A CL E G H1038220774OMIM:612438Leukodystrophy, hypomyelinating, 666
HP:0004305HP:0002305Athetosis1TUBB4A CL E G H1038220774OMIM:612438Leukodystrophy, hypomyelinating, 666
HP:0004305HP:0001337Tremor1TUBB4A CL E G H1038220774ORPHA:98805Primary dystonia, DYT4 type66
HP:0004305HP:0001337Tremor1TWNK CL E G H566521160ORPHA:254892Autosomal dominant progressive external ophthalmoplegiaHP:0040283 - Occasional113
HP:0004305HP:0002305Athetosis1TWNK CL E G H566521160OMIM:271245Mitochondrial DNA depletion syndrome 7 (hepatocerebral type).113
HP:0004305HP:0001336Myoclonus1TWNK CL E G H566521160OMIM:607459Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis.113
HP:0004305HP:0001336Myoclonus1TWNK CL E G H566521160ORPHA:70595Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndromeHP:0040282 - Frequent113
HP:0004305HP:0001336Myoclonus1TXN2 CL E G H2582817772ORPHA:478029Combined oxidative phosphorylation defect type 291
HP:0004305HP:0002072Chorea1TYROBP CL E G H730512449ORPHA:2770Nasu-Hakola diseaseHP:0040282 - Frequent22
HP:0004305HP:0001336Myoclonus1TYROBP CL E G H730512449OMIM:221770Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy.22
HP:0004305HP:0002380Fasciculations1UBA1 CL E G H731712469ORPHA:1145Infantile-onset X-linked spinal muscular atrophy35
HP:0004305HP:0002380Fasciculations1UBA1 CL E G H731712469OMIM:301830Spinal muscular atrophy, X-linked 235
HP:0004305HP:0002305Athetosis1UBA5 CL E G H7987623230OMIM:617132Epileptic encephalopathy, early infantile, 44.13
HP:0004305HP:0001336Myoclonus1UBA5 CL E G H7987623230ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional13
HP:0004305HP:0001337Tremor1UBA5 CL E G H7987623230ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional13
HP:0004305HP:0002169Clonus1UBAP1 CL E G H5127112461ORPHA:100993Autosomal dominant spastic paraplegia type 12HP:0040282 - Frequent
HP:0004305HP:0001337Tremor1UBE3A CL E G H733712496OMIM:105830Angelman syndrome278
HP:0004305HP:0000733Motor stereotypy1UBE3A CL E G H733712496ORPHA:411511Angelman syndrome due to a point mutation278
HP:0004305HP:0000733Motor stereotypy1UBE3A CL E G H733712496ORPHA:98794Angelman syndrome due to maternal 15q11q13 deletion278
HP:0004305HP:0001336Myoclonus1UBE3A CL E G H733712496ORPHA:98794Angelman syndrome due to maternal 15q11q13 deletionHP:0040283 - Occasional278
HP:0004305HP:0001337Tremor1UBE3A CL E G H733712496ORPHA:98794Angelman syndrome due to maternal 15q11q13 deletionHP:0040283 - Occasional278
HP:0004305HP:0000733Motor stereotypy1UBE3A CL E G H733712496ORPHA:98795Angelman syndrome due to paternal uniparental disomy of chromosome 15278
HP:0004305HP:0000733Motor stereotypy1UBE4B CL E G H1027712500ORPHA:16061p36 deletion syndromeHP:0040282 - Frequent
HP:0004305HP:0002305Athetosis1UBQLN2 CL E G H2997812509OMIM:300857Amyotrophic lateral sclerosis 15 with or without frontotemporal dementia.20
HP:0004305HP:0002072Chorea1UBTF CL E G H734312511ORPHA:500180Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorderHP:0040283 - Occasional1
HP:0004305HP:0002072Chorea1UBTF CL E G H734312511OMIM:617672Neurodegeneration, childhood-onset, with brain atrophy.1
HP:0004305HP:0001337Tremor1UCHL1 CL E G H734512513OMIM:615491Spastic paraplegia 79, autosomal recessive21
HP:0004305HP:0002169Clonus1UCHL1 CL E G H734512513OMIM:615491Spastic paraplegia 79, autosomal recessive21
HP:0004305HP:0002380Fasciculations1UCHL1 CL E G H734512513OMIM:615491Spastic paraplegia 79, autosomal recessive.21
HP:0004305HP:0001337Tremor1UCHL1 CL E G H734512513ORPHA:2828Young-onset Parkinson diseaseHP:0040282 - Frequent21
HP:0004305HP:0001337Tremor1UFC1 CL E G H5150626941OMIM:618076Neurodevelopmental disorder with spasticity and poor growth
HP:0004305HP:0002169Clonus1UFC1 CL E G H5150626941OMIM:618076Neurodevelopmental disorder with spasticity and poor growth.
HP:0004305HP:0002072Chorea1UGDH CL E G H735812525OMIM:618792DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 84; DEE84
HP:0004305HP:0001337Tremor1UGT1A1 CL E G H5465812530ORPHA:79234Crigler-Najjar syndrome type 1HP:0040283 - Occasional73
HP:0004305HP:0001337Tremor1UQCRC1 CL E G H738412585OMIM:619279PARKINSONISM WITH POLYNEUROPATHY; PKNPY
HP:0004305HP:0002305Athetosis1UQCRQ CL E G H2708929594OMIM:615159Mitochondrial complex III deficiency, nuclear type 4.34
HP:0004305HP:0001337Tremor1UROC1 CL E G H13166926444OMIM:276880Urocanase deficiency.8
HP:0004305HP:0001337Tremor1UROC1 CL E G H13166926444ORPHA:210128Urocanic aciduria8
HP:0004305HP:0002169Clonus1USP8 CL E G H910112631ORPHA:401795Autosomal recessive spastic paraplegia type 59HP:0040282 - Frequent7
HP:0004305HP:0001337Tremor1VAMP1 CL E G H684312642ORPHA:251282Autosomal dominant spastic ataxia type 1HP:0040283 - Occasional2
HP:0004305HP:0000733Motor stereotypy1VAMP2 CL E G H684412643OMIM:618760NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND AUTISTIC FEATURES WITH OR WITHOUT HYPERKINETIC MOVEMENTS; NEDHAHM
HP:0004305HP:0002072Chorea1VAMP2 CL E G H684412643OMIM:618760NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND AUTISTIC FEATURES WITH OR WITHOUT HYPERKINETIC MOVEMENTS; NEDHAHM
HP:0004305HP:0001337Tremor1VAPB CL E G H921712649OMIM:608627Amyotrophic lateral sclerosis 8116
HP:0004305HP:0002380Fasciculations1VAPB CL E G H921712649OMIM:608627Amyotrophic lateral sclerosis 8116
HP:0004305HP:0001337Tremor1VAPB CL E G H921712649OMIM:182980Spinal muscular atrophy, proximal, adult, autosomal dominantspinal muscular atrophy, late-onset, finkel type, included116
HP:0004305HP:0002380Fasciculations1VAPB CL E G H921712649OMIM:182980Spinal muscular atrophy, proximal, adult, autosomal dominantspinal muscular atrophy, late-onset, finkel type, included.116
HP:0004305HP:0000733Motor stereotypy1VARS1 CL E G H740712651OMIM:617802Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy
HP:0004305HP:0001337Tremor1VCP CL E G H741512666ORPHA:329478Adult-onset distal myopathy due to VCP mutationHP:0040283 - Occasional63
HP:0004305HP:0002380Fasciculations1VCP CL E G H741512666ORPHA:329478Adult-onset distal myopathy due to VCP mutationHP:0040282 - Frequent63
HP:0004305HP:0002169Clonus1VCP CL E G H741512666OMIM:613954Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia63
HP:0004305HP:0002380Fasciculations1VCP CL E G H741512666OMIM:613954Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia.63
HP:0004305HP:0000733Motor stereotypy1VCP CL E G H741512666ORPHA:275864Behavioral variant of frontotemporal dementiaHP:0040281 - Very frequent63
HP:0004305HP:0002380Fasciculations1VCP CL E G H741512666ORPHA:275864Behavioral variant of frontotemporal dementiaHP:0040283 - Occasional63
HP:0004305HP:0002380Fasciculations1VCP CL E G H741512666ORPHA:275872Frontotemporal dementia with motor neuron diseaseHP:0040283 - Occasional63
HP:0004305HP:0002380Fasciculations1VCP CL E G H741512666ORPHA:52430Inclusion body myopathy with Paget disease of bone and frontotemporal dementiaHP:0040283 - Occasional63
HP:0004305HP:0002380Fasciculations1VCP CL E G H741512666ORPHA:329475Spastic paraplegia-Paget disease of bone syndrome63
HP:0004305HP:0001337Tremor1VHL CL E G H742812687ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040283 - Occasional490
HP:0004305HP:0001337Tremor1VHL CL E G H742812687ORPHA:276621Sporadic pheochromocytoma/secreting paragangliomaHP:0040283 - Occasional490
HP:0004305HP:0001337Tremor1VLDLR CL E G H743612698OMIM:224050Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1111
HP:0004305HP:0001337Tremor1VPS13A CL E G H232301908ORPHA:2388Choreoacanthocytosis130
HP:0004305HP:0100033Tics1VPS13A CL E G H232301908ORPHA:2388Choreoacanthocytosis130
HP:0004305HP:0100033Tics1VPS13A CL E G H232301908OMIM:200150CHOREOACANTHOCYTOSIS.130
HP:0004305HP:0002072Chorea1VPS13A CL E G H232301908ORPHA:2388ChoreoacanthocytosisHP:0040281 - Very frequent130
HP:0004305HP:0002072Chorea1VPS13A CL E G H232301908OMIM:200150CHOREOACANTHOCYTOSIS130
HP:0004305HP:0002305Athetosis1VPS13A CL E G H232301908OMIM:200150CHOREOACANTHOCYTOSIS130
HP:0004305HP:0008767Self-mutilation of tongue and lips due to involuntary movements1VPS13A CL E G H232301908ORPHA:2388ChoreoacanthocytosisHP:0040283 - Occasional130
HP:0004305HP:0008767Self-mutilation of tongue and lips due to involuntary movements1VPS13A CL E G H232301908OMIM:200150CHOREOACANTHOCYTOSIS.130
HP:0004305HP:0001337Tremor1VPS13C CL E G H5483223594OMIM:616840Parkinson disease 23, autosomal recessive early-onset8
HP:0004305HP:0001337Tremor1VPS13C CL E G H5483223594ORPHA:2828Young-onset Parkinson diseaseHP:0040282 - Frequent8
HP:0004305HP:0001336Myoclonus1VPS13D CL E G H5518723595ORPHA:95434Autosomal recessive cerebellar ataxia-movement disorder syndromeHP:0040283 - Occasional
HP:0004305HP:0002380Fasciculations1VPS13D CL E G H5518723595ORPHA:95434Autosomal recessive cerebellar ataxia-movement disorder syndromeHP:0040282 - Frequent
HP:0004305HP:0001336Myoclonus1VPS13D CL E G H5518723595OMIM:607317Spinocerebellar ataxia, autosomal recessive 4.
HP:0004305HP:0001337Tremor1VPS13D CL E G H5518723595OMIM:607317Spinocerebellar ataxia, autosomal recessive 4.
HP:0004305HP:0002380Fasciculations1VPS13D CL E G H5518723595OMIM:607317Spinocerebellar ataxia, autosomal recessive 4.
HP:0004305HP:0001337Tremor1VPS35 CL E G H5573713487ORPHA:411602Hereditary late-onset Parkinson disease37
HP:0004305HP:0001337Tremor1VPS35 CL E G H5573713487OMIM:614203Parkinson disease 17.37
HP:0004305HP:0002169Clonus1VPS37A CL E G H13749224928ORPHA:319199Autosomal recessive spastic paraplegia type 53HP:0040281 - Very frequent7
HP:0004305HP:0002169Clonus1VPS37A CL E G H13749224928OMIM:614898SPASTIC PARAPLEGIA 53, AUTOSOMAL RECESSIVE; SPG537
HP:0004305HP:0001337Tremor1VPS37D CL E G H15538218287ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0004305HP:0001336Myoclonus1VPS41 CL E G H2707212713ORPHA:95434Autosomal recessive cerebellar ataxia-movement disorder syndromeHP:0040283 - Occasional
HP:0004305HP:0002380Fasciculations1VPS41 CL E G H2707212713ORPHA:95434Autosomal recessive cerebellar ataxia-movement disorder syndromeHP:0040282 - Frequent
HP:0004305HP:0002072Chorea1VPS4A CL E G H2718313488OMIM:619273CIMDAG SYNDROME; CIMDAG1
HP:0004305HP:0001336Myoclonus1VPS53 CL E G H5527525608OMIM:615851Pontocerebellar hypoplasia, type 2E26
HP:0004305HP:0002380Fasciculations1VRK1 CL E G H744312718ORPHA:2254Pontocerebellar hypoplasia type 132
HP:0004305HP:0001337Tremor1VRK1 CL E G H744312718OMIM:607596Pontocerebellar hypoplasia type 1A32
HP:0004305HP:0002380Fasciculations1VRK1 CL E G H744312718OMIM:607596Pontocerebellar hypoplasia type 1A.32
HP:0004305HP:0002380Fasciculations1VWA1 CL E G H6485630910OMIM:619216NEUROPATHY, HEREDITARY MOTOR, WITH MYOPATHIC FEATURES; HMNMYO
HP:0004305HP:0001337Tremor1VWA3B CL E G H20040328385OMIM:616948Spinocerebellar ataxia, autosomal recessive 221
HP:0004305HP:0001337Tremor1WARS2 CL E G H1035212730OMIM:617710Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures2
HP:0004305HP:0002305Athetosis1WARS2 CL E G H1035212730OMIM:617710Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures.2
HP:0004305HP:0001337Tremor1WARS2 CL E G H1035212730OMIM:619738PARKINSONISM-DYSTONIA 3, CHILDHOOD-ONSET; PKDYS32
HP:0004305HP:0002072Chorea1WARS2 CL E G H1035212730OMIM:619738PARKINSONISM-DYSTONIA 3, CHILDHOOD-ONSET; PKDYS32
HP:0004305HP:0001337Tremor1WARS2 CL E G H1035212730ORPHA:572798WARS2-related combined oxidative phosphorylation defectHP:0040283 - Occasional2
HP:0004305HP:0002305Athetosis1WARS2 CL E G H1035212730ORPHA:572798WARS2-related combined oxidative phosphorylation defectHP:0040283 - Occasional2
HP:0004305HP:0002169Clonus1WASHC5 CL E G H989728984ORPHA:100989Autosomal dominant spastic paraplegia type 8HP:0040283 - Occasional83
HP:0004305HP:0001337Tremor1WDR11 CL E G H5571713831ORPHA:478Kallmann syndromeHP:0040283 - Occasional10
HP:0004305HP:0000733Motor stereotypy1WDR26 CL E G H8023221208ORPHA:513456Intellectual disability-seizures-abnormal gait-facial dysmorphism syndromeHP:0040283 - Occasional8
HP:0004305HP:0000733Motor stereotypy1WDR4 CL E G H1078512756OMIM:618347Galloway-Mowat syndrome 6
HP:0004305HP:0001337Tremor1WDR45 CL E G H1115228912ORPHA:329284Beta-propeller protein-associated neurodegenerationHP:0040282 - Frequent51
HP:0004305HP:0001336Myoclonus1WDR45 CL E G H1115228912ORPHA:3451Infantile spasms syndromeHP:0040281 - Very frequent51
HP:0004305HP:0001337Tremor1WDR45 CL E G H1115228912OMIM:300894Neurodegeneration with brain iron accumulation 5.51
HP:0004305HP:0001337Tremor1WDR81 CL E G H12499726600OMIM:610185Cerebellar ataxia, mental retardation, and dysequilibrium syndrome2.27
HP:0004305HP:0001337Tremor1WFS1 CL E G H746612762OMIM:222300Wolfram syndrome 1.389
HP:0004305HP:0001336Myoclonus1WWOX CL E G H5174112799ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional149
HP:0004305HP:0001337Tremor1WWOX CL E G H5174112799ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional149
HP:0004305HP:0002072Chorea1XK CL E G H750412811OMIM:300842Mcleod syndrome8
HP:0004305HP:0002072Chorea1XPA CL E G H750712814OMIM:278700Xeroderma pigmentosum, complementation group A34
HP:0004305HP:0002305Athetosis1XPA CL E G H750712814OMIM:278700Xeroderma pigmentosum, complementation group A34
HP:0004305HP:0001337Tremor1XPNPEP3 CL E G H6392928052OMIM:613159Nephronophthisis-Like nephropathy 1109
HP:0004305HP:0002072Chorea1XPR1 CL E G H921312827OMIM:616413Basal ganglia calcification, idiopathic, 64
HP:0004305HP:0002305Athetosis1XPR1 CL E G H921312827OMIM:616413Basal ganglia calcification, idiopathic, 64
HP:0004305HP:0001336Myoclonus1YEATS2 CL E G H5568925489ORPHA:86814Benign adult familial myoclonic epilepsyHP:0040281 - Very frequent1
HP:0004305HP:0001337Tremor1YEATS2 CL E G H5568925489ORPHA:86814Benign adult familial myoclonic epilepsy1
HP:0004305HP:0001336Myoclonus1YEATS2 CL E G H5568925489OMIM:615127Epilepsy, familial adult myoclonic, 4.1
HP:0004305HP:0001337Tremor1YEATS2 CL E G H5568925489OMIM:615127Epilepsy, familial adult myoclonic, 4.1
HP:0004305HP:0001336Myoclonus1YRDC CL E G H7969328905OMIM:619609GALLOWAY-MOWAT SYNDROME 10; GAMOS10
HP:0004305HP:0001337Tremor1YWHAG CL E G H753212852OMIM:617665Epileptic encephalopathy, early infantile, 56
HP:0004305HP:0001336Myoclonus1YWHAG CL E G H753212852ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional
HP:0004305HP:0001337Tremor1YWHAG CL E G H753212852ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional
HP:0004305HP:0001337Tremor1YY1 CL E G H752812856OMIM:617557Gabriele-De vries syndrome.7
HP:0004305HP:0001337Tremor1YY1 CL E G H752812856ORPHA:506358Gabriele-de Vries syndromeHP:0040283 - Occasional7
HP:0004305HP:0001337Tremor1YY1 CL E G H752812856ORPHA:97279InsulinomaHP:0040281 - Very frequent7
HP:0004305HP:0000733Motor stereotypy1ZBTB18 CL E G H1047213030OMIM:612337Mental retardation, autosomal dominant 2216
HP:0004305HP:0000733Motor stereotypy1ZBTB20 CL E G H2613713503OMIM:259050Primrose syndrome17
HP:0004305HP:0100033Tics1ZBTB20 CL E G H2613713503OMIM:259050Primrose syndrome17
HP:0004305HP:0000733Motor stereotypy1ZEB2 CL E G H983914881ORPHA:261552Mowat-Wilson syndrome due to a ZEB2 point mutationHP:0040282 - Frequent362
HP:0004305HP:0000733Motor stereotypy1ZEB2 CL E G H983914881ORPHA:261537Mowat-Wilson syndrome due to monosomy 2q22HP:0040282 - Frequent362
HP:0004305HP:0001337Tremor1ZFR CL E G H5166317277ORPHA:401840Autosomal recessive spastic paraplegia type 711
HP:0004305HP:0001337Tremor1ZFYVE26 CL E G H2350320761ORPHA:100996Autosomal recessive spastic paraplegia type 15189
HP:0004305HP:0002169Clonus1ZFYVE26 CL E G H2350320761OMIM:270700Spastic paraplegia 15, autosomal recessive.189
HP:0004305HP:0002169Clonus1ZFYVE27 CL E G H11881326559OMIM:610244Spastic paraplegia 33, autosomal dominant52
HP:0004305HP:0000733Motor stereotypy1ZMYM2 CL E G H775012989OMIM:619522NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC
HP:0004305HP:0001337Tremor1ZNF142 CL E G H770112927OMIM:618425Neurodevelopmental disorder with impaired speech and hyperkinetic movements.
HP:0004305HP:0002072Chorea1ZNF142 CL E G H770112927OMIM:618425Neurodevelopmental disorder with impaired speech and hyperkinetic movements.
HP:0004305HP:0000733Motor stereotypy1ZNF526 CL E G H11611529415OMIM:61987724
HP:0004305HP:0001336Myoclonus1ZNHIT3 CL E G H932612309OMIM:260565Peho syndrome.1
HP:0004305HP:0100033Tics1ZSWIM6 CL E G H5768829316OMIM:617865Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features.5
HP:0004305HP:0011728Elbow clonus2 CL E G H
HP:0004305HP:0012323Sleep myoclonus2 CL E G H
HP:0004305HP:0030665Rubral tremor2 CL E G H
HP:0004305HP:0002345Action tremor2AARS1 CL E G H1620OMIM:619691TRICHOTHIODYSTROPHY 8, NONPHOTOSENSITIVE; TTD8
HP:0004305HP:0011448Ankle clonus2AARS1 CL E G H1620OMIM:619691TRICHOTHIODYSTROPHY 8, NONPHOTOSENSITIVE; TTD8
HP:0004305HP:0030188Tremor by anatomical site2AARS1 CL E G H1620OMIM:619691TRICHOTHIODYSTROPHY 8, NONPHOTOSENSITIVE; TTD8
HP:0004305HP:0030188Tremor by anatomical site2ABCB6 CL E G H1005847OMIM:609153Pseudohyperkalemia, familial, 2, due to red cell leak20
HP:0004305HP:0002345Action tremor2ABCB7 CL E G H2248OMIM:301310Anemia, sideroblastic, and spinocerebellar ataxia35
HP:0004305HP:0011448Ankle clonus2ABCD1 CL E G H21561ORPHA:139396X-linked cerebral adrenoleukodystrophyHP:0040283 - Occasional135
HP:0004305HP:0045084Limb myoclonus2ABCD1 CL E G H21561ORPHA:139396X-linked cerebral adrenoleukodystrophyHP:0040283 - Occasional135
HP:0004305HP:0002345Action tremor2ABHD12 CL E G H2609015868OMIM:612674Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract50
HP:0004305HP:0001266Choreoathetosis2ABHD16A CL E G H792013921OMIM:619735SPASTIC PARAPLEGIA 86, AUTOSOMAL RECESSIVE; SPG86
HP:0004305HP:0002345Action tremor2ACBD5 CL E G H9145223338OMIM:618863RETINAL DYSTROPHY WITH LEUKODYSTROPHY; RDLKD1
HP:0004305HP:0001266Choreoathetosis2ADAR CL E G H103225ORPHA:225154Familial infantile bilateral striatal necrosisHP:0040282 - Frequent116
HP:0004305HP:0001266Choreoathetosis2ADCY5 CL E G H111236OMIM:606703Dyskinesia, familial, with facial myokymia25
HP:0004305HP:0002322Resting tremor2ADCY5 CL E G H111236OMIM:606703Dyskinesia, familial, with facial myokymiaHP:0040283 - Occasional25
HP:0004305HP:0002322Resting tremor2ADCY5 CL E G H111236ORPHA:324588Familial dyskinesia and facial myokymiaHP:0040282 - Frequent25
HP:0004305HP:0011448Ankle clonus2ADGRG1 CL E G H92894512OMIM:606854Polymicrogyria, bilateral frontoparietal88
HP:0004305HP:0002322Resting tremor2ADH1C CL E G H126251OMIM:168600Parkinson disease, late-onset.4
HP:0004305HP:0001308Tongue fasciculations2ADPRS CL E G H5493621304OMIM:618170Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures.
HP:0004305HP:0002345Action tremor2ADPRS CL E G H5493621304OMIM:618170Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures
HP:0004305HP:0030188Tremor by anatomical site2ADRA2B CL E G H151282ORPHA:86814Benign adult familial myoclonic epilepsy3
HP:0004305HP:0100023Recurrent hand flapping2AFF2 CL E G H23343776ORPHA:100973FRAXE intellectual disabilityHP:0040282 - Frequent59
HP:0004305HP:0012172Stereotypical body rocking2AFF2 CL E G H23343776ORPHA:100973FRAXE intellectual disabilityHP:0040283 - Occasional59
HP:0004305HP:0100023Recurrent hand flapping2AFF2 CL E G H23343776OMIM:309548Mental retardation, X-linked, associated with fragile site fraxe59
HP:0004305HP:0012172Stereotypical body rocking2AFF2 CL E G H23343776OMIM:309548Mental retardation, X-linked, associated with fragile site fraxe59
HP:0004305HP:0002345Action tremor2AFG3L2 CL E G H10939315ORPHA:101109Spinocerebellar ataxia type 2886
HP:0004305HP:0030188Tremor by anatomical site2AFG3L2 CL E G H10939315ORPHA:101109Spinocerebellar ataxia type 2886
HP:0004305HP:0001308Tongue fasciculations2AGTPBP1 CL E G H2328717258OMIM:618276Neurodegeneration, childhood-onset, with cerebellar atrophyHP:0040284 - Very rare1
HP:0004305HP:0001308Tongue fasciculations2AGTPBP1 CL E G H2328717258ORPHA:2254Pontocerebellar hypoplasia type 11
HP:0004305HP:0001308Tongue fasciculations2AIFM1 CL E G H91318768OMIM:300816Combined oxidative phosphorylation deficiency 660
HP:0004305HP:0001308Tongue fasciculations2AIFM1 CL E G H91318768ORPHA:238329Severe X-linked mitochondrial encephalomyopathyHP:0040282 - Frequent60
HP:0004305HP:0002345Action tremor2AKT1 CL E G H207391OMIM:615109Cowden syndrome 654
HP:0004305HP:0003739Myoclonic spasms2AKT1 CL E G H207391ORPHA:2495Meningioma54
HP:0004305HP:0002345Action tremor2ALDH18A1 CL E G H58329722ORPHA:447757Autosomal dominant spastic paraplegia type 9B89
HP:0004305HP:0002345Action tremor2ALDH18A1 CL E G H58329722ORPHA:447760Autosomal recessive spastic paraplegia type 9B89
HP:0004305HP:0002322Resting tremor2ALDH18A1 CL E G H58329722OMIM:601162Spastic paraplegia 9A, autosomal dominant89
HP:0004305HP:0002345Action tremor2ALS2 CL E G H57679443OMIM:205100Amyotrophic lateral sclerosis 2, juvenile114
HP:0004305HP:0030188Tremor by anatomical site2ALS2 CL E G H57679443OMIM:205100Amyotrophic lateral sclerosis 2, juvenile114
HP:0004305HP:0002345Action tremor2ALS2 CL E G H57679443ORPHA:300605Juvenile amyotrophic lateral sclerosis114
HP:0004305HP:0030188Tremor by anatomical site2ALS2 CL E G H57679443ORPHA:300605Juvenile amyotrophic lateral sclerosis114
HP:0004305HP:0002345Action tremor2AMACR CL E G H23600451OMIM:614307Alpha-methylacyl-CoA racemase deficiency44
HP:0004305HP:0002345Action tremor2ANO10 CL E G H5512925519ORPHA:284289Adult-onset autosomal recessive cerebellar ataxia64
HP:0004305HP:0011448Ankle clonus2ANO10 CL E G H5512925519ORPHA:284289Adult-onset autosomal recessive cerebellar ataxiaHP:0040282 - Frequent64
HP:0004305HP:0002345Action tremor2ANO10 CL E G H5512925519OMIM:613728Spinocerebellar ataxia, autosomal recessive 1064
HP:0004305HP:0002345Action tremor2ANO3 CL E G H6398214004ORPHA:420485Cranio-cervical dystonia with laryngeal and upper-limb involvement17
HP:0004305HP:0030188Tremor by anatomical site2ANO3 CL E G H6398214004ORPHA:420485Cranio-cervical dystonia with laryngeal and upper-limb involvement17
HP:0004305HP:0030188Tremor by anatomical site2ANO3 CL E G H6398214004OMIM:615034Dystonia 2417
HP:0004305HP:0001266Choreoathetosis2AP1S2 CL E G H8905560OMIM:304340Pettigrew syndrome.13
HP:0004305HP:0002345Action tremor2ARSA CL E G H410713ORPHA:309271Metachromatic leukodystrophy, adult form253
HP:0004305HP:0002345Action tremor2ARSA CL E G H410713ORPHA:309263Metachromatic leukodystrophy, juvenile form253
HP:0004305HP:0001266Choreoathetosis2ARX CL E G H17030218060OMIM:308350Developmental and epileptic encephalopathy 1.166
HP:0004305HP:0025357Erratic myoclonus2ARX CL E G H17030218060OMIM:308350Developmental and epileptic encephalopathy 1166
HP:0004305HP:0001266Choreoathetosis2ARX CL E G H17030218060ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional166
HP:0004305HP:0001308Tongue fasciculations2ASAH1 CL E G H427735OMIM:159950Spinal muscular atrophy with progressive myoclonic epilepsy.78
HP:0004305HP:0025097Eyelid myoclonus2ASAH1 CL E G H427735ORPHA:2590Spinal muscular atrophy-progressive myoclonic epilepsy syndromeHP:0040283 - Occasional78
HP:0004305HP:0045084Limb myoclonus2ASAH1 CL E G H427735ORPHA:2590Spinal muscular atrophy-progressive myoclonic epilepsy syndromeHP:0040283 - Occasional78
HP:0004305HP:0100023Recurrent hand flapping2ASXL3 CL E G H8081629357ORPHA:352577Bainbridge-Ropers syndromeHP:0040283 - Occasional49
HP:0004305HP:0100023Recurrent hand flapping2ASXL3 CL E G H8081629357OMIM:615485BAINBRIDGE-ROPERS SYNDROME; BRPS49
HP:0004305HP:0002345Action tremor2ATCAY CL E G H85300779ORPHA:94122Cerebellar ataxia, Cayman type72
HP:0004305HP:0002345Action tremor2ATCAY CL E G H85300779OMIM:601238Cerebellar ataxia, Cayman type72
HP:0004305HP:0001266Choreoathetosis2ATG7 CL E G H1053316935OMIM:619422SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 31; SCAR311
HP:0004305HP:0011448Ankle clonus2ATL1 CL E G H5106211231ORPHA:100984Autosomal dominant spastic paraplegia type 3HP:0040282 - Frequent71
HP:0004305HP:0001266Choreoathetosis2ATM CL E G H472795OMIM:208900ATAXIA-TELANGIECTASIA.3267
HP:0004305HP:0002345Action tremor2ATM CL E G H472795OMIM:208900ATAXIA-TELANGIECTASIA3267
HP:0004305HP:0001266Choreoathetosis2ATN1 CL E G H18223033ORPHA:101Dentatorubral pallidoluysian atrophyHP:0040282 - Frequent16
HP:0004305HP:0002345Action tremor2ATN1 CL E G H18223033ORPHA:101Dentatorubral pallidoluysian atrophyHP:0040282 - Frequent16
HP:0004305HP:0001266Choreoathetosis2ATN1 CL E G H18223033OMIM:125370Dentatorubral-Pallidoluysian atrophy naito-oyanagi disease haw river syndrome ataxia, chorea, seizures, and dementia.16
HP:0004305HP:0001308Tongue fasciculations2ATP11A CL E G H2325013552OMIM:619851LEUKODYSTROPHY, HYPOMYELINATING, 24; HLD24
HP:0004305HP:0002345Action tremor2ATP13A2 CL E G H2340030213ORPHA:314632ATP13A2-related juvenile neuronal ceroid lipofuscinosis100
HP:0004305HP:0002322Resting tremor2ATP13A2 CL E G H2340030213OMIM:617225SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE; SPG78100
HP:0004305HP:0001266Choreoathetosis2ATP1A2 CL E G H477800ORPHA:2131Alternating hemiplegia of childhoodHP:0040283 - Occasional239
HP:0004305HP:0001266Choreoathetosis2ATP1A2 CL E G H477800OMIM:104290Alternating hemiplegia of childhood 1.239
HP:0004305HP:0001308Tongue fasciculations2ATP1A2 CL E G H477800ORPHA:569Familial or sporadic hemiplegic migraineHP:0040282 - Frequent239
HP:0004305HP:0001266Choreoathetosis2ATP1A3 CL E G H478801ORPHA:2131Alternating hemiplegia of childhoodHP:0040283 - Occasional150
HP:0004305HP:0001266Choreoathetosis2ATP1A3 CL E G H478801OMIM:614820Alternating hemiplegia of childhood 2.150
HP:0004305HP:0025097Eyelid myoclonus2ATP1A3 CL E G H478801OMIM:619606DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 99; DEE99150
HP:0004305HP:0002322Resting tremor2ATP1A3 CL E G H478801ORPHA:71517Rapid-onset dystonia-parkinsonismHP:0040283 - Occasional150
HP:0004305HP:0002345Action tremor2ATP2B3 CL E G H492816OMIM:302500Spinocerebellar ataxia, X-linked 1.19
HP:0004305HP:0002345Action tremor2ATP2B3 CL E G H492816ORPHA:314978X-linked non progressive cerebellar ataxiaHP:0040282 - Frequent19
HP:0004305HP:0001266Choreoathetosis2ATP6 CL E G H45087414ORPHA:225154Familial infantile bilateral striatal necrosisHP:0040282 - Frequent
HP:0004305HP:0002345Action tremor2ATP6 CL E G H45087414ORPHA:104Leber hereditary optic neuropathy
HP:0004305HP:0002345Action tremor2ATP6 CL E G H45087414OMIM:535000Leber optic atrophy
HP:0004305HP:0003739Myoclonic spasms2ATP6 CL E G H45087414ORPHA:644NARP syndromeHP:0040282 - Frequent
HP:0004305HP:0002345Action tremor2ATP6AP2 CL E G H1015918305OMIM:300423MENTAL RETARDATION, X-LINKED, SYNDROMIC, HEDERA TYPE; MRXSH36
HP:0004305HP:0002322Resting tremor2ATP6AP2 CL E G H1015918305OMIM:300911Parkinsonism with spasticity, X-linked.36
HP:0004305HP:0002345Action tremor2ATP6AP2 CL E G H1015918305ORPHA:93952X-linked intellectual disability, Hedera typeHP:0040283 - Occasional36
HP:0004305HP:0002322Resting tremor2ATP6AP2 CL E G H1015918305ORPHA:363654X-linked parkinsonism-spasticity syndromeHP:0040281 - Very frequent36
HP:0004305HP:0011448Ankle clonus2ATP6AP2 CL E G H1015918305ORPHA:363654X-linked parkinsonism-spasticity syndromeHP:0040283 - Occasional36
HP:0004305HP:0025357Erratic myoclonus2ATP6V0A1 CL E G H535865OMIM:6199711
HP:0004305HP:0030188Tremor by anatomical site2ATP7B CL E G H540870OMIM:277900Wilson disease315
HP:0004305HP:0002345Action tremor2ATXN1 CL E G H631010548ORPHA:98755Spinocerebellar ataxia type 119
HP:0004305HP:0007289Limb fasciculations2ATXN10 CL E G H2581410549OMIM:603516Spinocerebellar ataxia 109
HP:0004305HP:0002345Action tremor2ATXN10 CL E G H2581410549ORPHA:98761Spinocerebellar ataxia type 109
HP:0004305HP:0002322Resting tremor2ATXN2 CL E G H631110555OMIM:168600Parkinson disease, late-onset.11
HP:0004305HP:0002345Action tremor2ATXN2 CL E G H631110555OMIM:183090Spinocerebellar ataxia 2.11
HP:0004305HP:0002345Action tremor2ATXN2 CL E G H631110555ORPHA:98756Spinocerebellar ataxia type 211
HP:0004305HP:0007089Facial-lingual fasciculations2ATXN3 CL E G H42877106OMIM:109150Machado-Joseph disease.14
HP:0004305HP:0007089Facial-lingual fasciculations2ATXN3 CL E G H42877106ORPHA:276238Machado-Joseph disease type 1HP:0040282 - Frequent14
HP:0004305HP:0007089Facial-lingual fasciculations2ATXN3 CL E G H42877106ORPHA:276241Machado-Joseph disease type 2HP:0040282 - Frequent14
HP:0004305HP:0007089Facial-lingual fasciculations2ATXN3 CL E G H42877106ORPHA:276244Machado-Joseph disease type 3HP:0040282 - Frequent14
HP:0004305HP:0002322Resting tremor2ATXN8OS CL E G H631510561OMIM:168600Parkinson disease, late-onset.1
HP:0004305HP:0008762Repetitive compulsive behavior2AUTS2 CL E G H2605314262ORPHA:352490Autism spectrum disorder due to AUTS2 deficiencyHP:0040282 - Frequent61
HP:0004305HP:0003739Myoclonic spasms2BAP1 CL E G H8314950ORPHA:2495Meningioma184
HP:0004305HP:0100703Tongue thrusting2BRAF CL E G H6731097OMIM:115150Cardiofaciocutaneous syndrome 1.276
HP:0004305HP:0002345Action tremor2BRAT1 CL E G H22192721701OMIM:618056Neurodevelopmental disorder with cerebellar atrophy and with or without seizures20
HP:0004305HP:0003739Myoclonic spasms2BRAT1 CL E G H22192721701OMIM:614498Rigidity and multifocal seizure syndrome, lethal neonatal.20
HP:0004305HP:0002345Action tremor2BSCL2 CL E G H2658015832ORPHA:100998Autosomal dominant spastic paraplegia type 17105
HP:0004305HP:0002345Action tremor2BSCL2 CL E G H2658015832OMIM:270685Spastic paraplegia 17105
HP:0004305HP:0030188Tremor by anatomical site2C19ORF12 CL E G H8363625443ORPHA:289560Mitochondrial membrane protein-associated neurodegeneration114
HP:0004305HP:0001266Choreoathetosis2CACNA1A CL E G H7731388ORPHA:2131Alternating hemiplegia of childhoodHP:0040283 - Occasional449
HP:0004305HP:0001308Tongue fasciculations2CACNA1A CL E G H7731388ORPHA:569Familial or sporadic hemiplegic migraineHP:0040282 - Frequent449
HP:0004305HP:0002345Action tremor2CACNA1A CL E G H7731388ORPHA:98758Spinocerebellar ataxia type 6449
HP:0004305HP:0001266Choreoathetosis2CACNA1B CL E G H7741389OMIM:618497Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements.5
HP:0004305HP:0002345Action tremor2CACNA1C CL E G H7751390OMIM:620029572
HP:0004305HP:0002322Resting tremor2CACNA1G CL E G H89131394ORPHA:458803Spinocerebellar ataxia type 42HP:0040283 - Occasional32
HP:0004305HP:0002345Action tremor2CACNA1G CL E G H89131394ORPHA:458803Spinocerebellar ataxia type 4232
HP:0004305HP:0030188Tremor by anatomical site2CACNA1G CL E G H89131394ORPHA:458803Spinocerebellar ataxia type 4232
HP:0004305HP:0045084Limb myoclonus2CACNA1H CL E G H89121395ORPHA:64280Childhood absence epilepsyHP:0040284 - Very rare75
HP:0004305HP:0030218Punding2CACNA1H CL E G H89121395ORPHA:64280Childhood absence epilepsyHP:0040283 - Occasional75
HP:0004305HP:0007000Morning myoclonic jerks2CACNB4 CL E G H7851404OMIM:607682Epilepsy, idiopathic generalized, susceptibility to, 9.146
HP:0004305HP:0007000Morning myoclonic jerks2CACNB4 CL E G H7851404ORPHA:307Juvenile myoclonic epilepsyHP:0040281 - Very frequent146
HP:0004305HP:0030188Tremor by anatomical site2CAMTA1 CL E G H2326118806OMIM:614756Cerebellar ataxia, nonprogressive, with mental retardation34
HP:0004305HP:0002345Action tremor2CAMTA1 CL E G H2326118806ORPHA:314647Non-progressive cerebellar ataxia with intellectual disability34
HP:0004305HP:0011448Ankle clonus2CAPN1 CL E G H8231476ORPHA:488594Autosomal recessive spastic paraplegia type 76HP:0040283 - Occasional4
HP:0004305HP:0011448Ankle clonus2CARS1 CL E G H8331493OMIM:618891MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME; MDBH
HP:0004305HP:0002345Action tremor2CARS1 CL E G H8331493ORPHA:33364Trichothiodystrophy
HP:0004305HP:0002345Action tremor2CARS2 CL E G H7958725695ORPHA:477774Combined oxidative phosphorylation defect type 2735
HP:0004305HP:0030188Tremor by anatomical site2CARS2 CL E G H7958725695ORPHA:477774Combined oxidative phosphorylation defect type 2735
HP:0004305HP:0001266Choreoathetosis2CASK CL E G H85731497ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional118
HP:0004305HP:0040148Cortical myoclonus2CASR CL E G H8461514ORPHA:428Autosomal dominant hypocalcemiaHP:0040281 - Very frequent272
HP:0004305HP:0002345Action tremor2CCDC88C CL E G H44019319967OMIM:616053Spinocerebellar ataxia 4054
HP:0004305HP:0002345Action tremor2CCDC88C CL E G H44019319967ORPHA:423275Spinocerebellar ataxia type 4054
HP:0004305HP:0011448Ankle clonus2CD40LG CL E G H95911935OMIM:308230Immunodeficiency, X-linked, with hyper-IgM33
HP:0004305HP:0030188Tremor by anatomical site2CDC42BPB CL E G H95781738OMIM:619841
HP:0004305HP:0100023Recurrent hand flapping2CDK19 CL E G H2309719338OMIM:618916DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 87; DEE87
HP:0004305HP:0002322Resting tremor2CDKL5 CL E G H679211411ORPHA:3095Atypical Rett syndrome405
HP:0004305HP:0100703Tongue thrusting2CDKL5 CL E G H679211411ORPHA:3095Atypical Rett syndromeHP:0040282 - Frequent405
HP:0004305HP:0012171Stereotypical hand wringing2CDKL5 CL E G H679211411ORPHA:3095Atypical Rett syndromeHP:0040281 - Very frequent405
HP:0004305HP:0045084Limb myoclonus2CDKL5 CL E G H679211411ORPHA:3095Atypical Rett syndromeHP:0040282 - Frequent405
HP:0004305HP:0012171Stereotypical hand wringing2CDKL5 CL E G H679211411ORPHA:505652CDKL5-deficiency disorderHP:0040282 - Frequent405
HP:0004305HP:0001266Choreoathetosis2CDKL5 CL E G H679211411ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional405
HP:0004305HP:0012171Stereotypical hand wringing2CELF2 CL E G H106592550OMIM:619561DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 97; DEE97
HP:0004305HP:0030188Tremor by anatomical site2CEP104 CL E G H973124866OMIM:6199885
HP:0004305HP:0100034Motor tics2CEP152 CL E G H2299529298OMIM:614852Microcephaly 9, primary, autosomal recessive146
HP:0004305HP:0001266Choreoathetosis2CERS1 CL E G H1071514253OMIM:616230Epilepsy, progressive myoclonic, 81
HP:0004305HP:0034360Action myoclonus2CERS1 CL E G H1071514253OMIM:616230Epilepsy, progressive myoclonic, 81
HP:0004305HP:0001308Tongue fasciculations2CHCHD10 CL E G H40091615559ORPHA:276435Lower motor neuron syndrome with late-adult onsetHP:0040283 - Occasional11
HP:0004305HP:0002322Resting tremor2CHCHD2 CL E G H5114221645OMIM:616710Parkinson disease 22, autosomal dominant.3
HP:0004305HP:0100023Recurrent hand flapping2CHD8 CL E G H5768020153OMIM:615032AUTISM, SUSCEPTIBILITY TO, 18; AUTS1872
HP:0004305HP:0001266Choreoathetosis2CHKA CL E G H11191937OMIM:620023
HP:0004305HP:0100023Recurrent hand flapping2CIC CL E G H2315214214OMIM:617600Mental retardation, autosomal dominant 4539
HP:0004305HP:0007000Morning myoclonic jerks2CILK1 CL E G H2285821219ORPHA:307Juvenile myoclonic epilepsyHP:0040281 - Very frequent
HP:0004305HP:0030188Tremor by anatomical site2CIZ1 CL E G H2579216744ORPHA:420492Adult-onset cervical dystonia, DYT23 type16
HP:0004305HP:0007000Morning myoclonic jerks2CLCN2 CL E G H11812020ORPHA:307Juvenile myoclonic epilepsyHP:0040281 - Very frequent44
HP:0004305HP:0002345Action tremor2CLCN2 CL E G H11812020OMIM:615651Leukoencephalopathy with ataxia44
HP:0004305HP:0001266Choreoathetosis2CLPB CL E G H8157030664ORPHA:4450383-methylglutaconic aciduria type 7HP:0040282 - Frequent38
HP:0004305HP:0001266Choreoathetosis2CLPB CL E G H8157030664OMIM:6162713-Methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia38
HP:0004305HP:0030188Tremor by anatomical site2CNTN2 CL E G H69002172ORPHA:86814Benign adult familial myoclonic epilepsy9
HP:0004305HP:0012171Stereotypical hand wringing2CNTNAP2 CL E G H2604713830ORPHA:163681CNTNAP2-related developmental and epileptic encephalopathy518
HP:0004305HP:0002345Action tremor2COL6A3 CL E G H12932213OMIM:616411Dystonia 27.702
HP:0004305HP:0002345Action tremor2COL6A3 CL E G H12932213ORPHA:464440Primary dystonia, DYT27 typeHP:0040282 - Frequent702
HP:0004305HP:0030188Tremor by anatomical site2COL6A3 CL E G H12932213ORPHA:464440Primary dystonia, DYT27 type702
HP:0004305HP:0002322Resting tremor2COQ2 CL E G H2723525223ORPHA:227510Multiple system atrophy, cerebellar typeHP:0040283 - Occasional54
HP:0004305HP:0002345Action tremor2COQ2 CL E G H2723525223ORPHA:227510Multiple system atrophy, cerebellar type54
HP:0004305HP:0002322Resting tremor2COQ2 CL E G H2723525223ORPHA:98933Multiple system atrophy, parkinsonian typeHP:0040282 - Frequent54
HP:0004305HP:0002345Action tremor2COQ2 CL E G H2723525223ORPHA:98933Multiple system atrophy, parkinsonian type54
HP:0004305HP:0002345Action tremor2COX1 CL E G H45127419ORPHA:104Leber hereditary optic neuropathy
HP:0004305HP:0001266Choreoathetosis2COX20 CL E G H11622826970OMIM:619054MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 11; MC4DN1125
HP:0004305HP:0002345Action tremor2COX3 CL E G H45147422ORPHA:104Leber hereditary optic neuropathy
HP:0004305HP:0002345Action tremor2COX3 CL E G H45147422OMIM:535000Leber optic atrophy
HP:0004305HP:0045084Limb myoclonus2CPLX1 CL E G H108152309ORPHA:352582Familial infantile myoclonic epilepsyHP:0040283 - Occasional1
HP:0004305HP:0001483Eye poking2CRB1 CL E G H234182343OMIM:613835Leber congenital amaurosis 8156
HP:0004305HP:0002345Action tremor2CSTB CL E G H14762482ORPHA:308Progressive myoclonic epilepsy type 151
HP:0004305HP:0007000Morning myoclonic jerks2CSTB CL E G H14762482ORPHA:308Progressive myoclonic epilepsy type 1HP:0040281 - Very frequent51
HP:0004305HP:0002345Action tremor2CTDP1 CL E G H91502498ORPHA:48431Congenital cataracts-facial dysmorphism-neuropathy syndrome17
HP:0004305HP:0030188Tremor by anatomical site2CTNND2 CL E G H15012516ORPHA:86814Benign adult familial myoclonic epilepsy15
HP:0004305HP:0002345Action tremor2CWF19L1 CL E G H5528025613ORPHA:453521Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency9
HP:0004305HP:0002345Action tremor2CWF19L1 CL E G H5528025613OMIM:616127Spinocerebellar ataxia, autosomal recessive 179
HP:0004305HP:0002322Resting tremor2CYP27A1 CL E G H15932605ORPHA:909Cerebrotendinous xanthomatosisHP:0040283 - Occasional114
HP:0004305HP:0010530Palatal tremor2CYP27A1 CL E G H15932605ORPHA:909Cerebrotendinous xanthomatosisHP:0040284 - Very rare114
HP:0004305HP:0011448Ankle clonus2CYP27A1 CL E G H15932605OMIM:213700Cerebrotendinous xanthomatosis114
HP:0004305HP:0011448Ankle clonus2CYP7B1 CL E G H94202652ORPHA:100986Autosomal recessive spastic paraplegia type 5AHP:0040282 - Frequent57
HP:0004305HP:0002345Action tremor2CYP7B1 CL E G H94202652OMIM:270800Spastic paraplegia 5A, autosomal recessive57
HP:0004305HP:0002345Action tremor2CYTB CL E G H45197427ORPHA:104Leber hereditary optic neuropathy
HP:0004305HP:0002345Action tremor2CYTB CL E G H45197427OMIM:535000Leber optic atrophy
HP:0004305HP:0001266Choreoathetosis2DCAF17 CL E G H8006725784OMIM:241080Woodhouse-Sakati syndrome.87
HP:0004305HP:0001266Choreoathetosis2DCAF17 CL E G H8006725784ORPHA:3464Woodhouse-Sakati syndromeHP:0040281 - Very frequent87
HP:0004305HP:0001266Choreoathetosis2DDC CL E G H16442719OMIM:608643Aromatic L-amino acid decarboxylase deficiency.43
HP:0004305HP:0100703Tongue thrusting2DDC CL E G H16442719OMIM:608643Aromatic L-amino acid decarboxylase deficiency43
HP:0004305HP:0030188Tremor by anatomical site2DDC CL E G H16442719OMIM:608643Aromatic L-amino acid decarboxylase deficiency43
HP:0004305HP:0025097Eyelid myoclonus2DHFR CL E G H17192861OMIM:613839Megaloblastic anemia due to dihydrofolate reductase deficiency.7
HP:0004305HP:0100023Recurrent hand flapping2DHPS CL E G H17252869OMIM:618480Neurodevelopmental disorder with seizures and speech and walking impairment
HP:0004305HP:0001266Choreoathetosis2DLAT CL E G H17372896OMIM:245348Pyruvate dehydrogenase E2 deficiency.82
HP:0004305HP:0001266Choreoathetosis2DMXL2 CL E G H233122938ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional3
HP:0004305HP:0002322Resting tremor2DNAJC13 CL E G H2331730343ORPHA:411602Hereditary late-onset Parkinson diseaseHP:0040282 - Frequent2
HP:0004305HP:0002345Action tremor2DNAJC19 CL E G H13111830528ORPHA:66634Dilated cardiomyopathy with ataxiaHP:0040284 - Very rare25
HP:0004305HP:0008762Repetitive compulsive behavior2DNAJC19 CL E G H13111830528ORPHA:66634Dilated cardiomyopathy with ataxiaHP:0040284 - Very rare25
HP:0004305HP:0002345Action tremor2DNAJC30 CL E G H8427716410ORPHA:104Leber hereditary optic neuropathy
HP:0004305HP:0002322Resting tremor2DNAJC6 CL E G H982915469ORPHA:391411Atypical juvenile parkinsonismHP:0040281 - Very frequent6
HP:0004305HP:0002322Resting tremor2DNAJC6 CL E G H982915469OMIM:615528Parkinson disease 19a, juvenile-onset6
HP:0004305HP:0002322Resting tremor2DNMT1 CL E G H17862976ORPHA:314404Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndromeHP:0040283 - Occasional145
HP:0004305HP:0030188Tremor by anatomical site2DNMT1 CL E G H17862976ORPHA:314404Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome145
HP:0004305HP:0012172Stereotypical body rocking2DPAGT1 CL E G H17982995ORPHA:86309DPAGT1-CDGHP:0040284 - Very rare38
HP:0004305HP:0010531Spinal myoclonus2DRD2 CL E G H18133023ORPHA:36899Myoclonus-dystonia syndromeHP:0040281 - Very frequent16
HP:0004305HP:0045084Limb myoclonus2DRD2 CL E G H18133023ORPHA:36899Myoclonus-dystonia syndromeHP:0040281 - Very frequent16
HP:0004305HP:0002345Action tremor2DRD3 CL E G H18143024OMIM:190300Tremor, hereditary essential, 1.21
HP:0004305HP:0030188Tremor by anatomical site2DRD3 CL E G H18143024OMIM:190300Tremor, hereditary essential, 121
HP:0004305HP:0012171Stereotypical hand wringing2DYRK1A CL E G H18593091ORPHA:268261DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletionHP:0040283 - Occasional134
HP:0004305HP:0012171Stereotypical hand wringing2DYRK1A CL E G H18593091OMIM:614104Mental retardation, autosomal dominant 7134
HP:0004305HP:0007000Morning myoclonic jerks2EFHC1 CL E G H11432716406ORPHA:307Juvenile myoclonic epilepsyHP:0040281 - Very frequent153
HP:0004305HP:0007000Morning myoclonic jerks2EFHC1 CL E G H11432716406OMIM:254770Myoclonic epilepsy, juvenile, susceptibility to, 1.153
HP:0004305HP:0001308Tongue fasciculations2EGR2 CL E G H19593239OMIM:145900Hypertrophic neuropathy of dejerine-sottas58
HP:0004305HP:0001266Choreoathetosis2EIF2AK2 CL E G H56109437OMIM:618877LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME; LEUDEN
HP:0004305HP:0002345Action tremor2EIF2AK2 CL E G H56109437OMIM:618877LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME; LEUDEN
HP:0004305HP:0030188Tremor by anatomical site2EIF2AK2 CL E G H56109437OMIM:618877LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME; LEUDEN
HP:0004305HP:0002322Resting tremor2EIF4G1 CL E G H19813296ORPHA:411602Hereditary late-onset Parkinson diseaseHP:0040282 - Frequent2
HP:0004305HP:0002322Resting tremor2EIF4G1 CL E G H19813296OMIM:614251Parkinson disease 18.2
HP:0004305HP:0002345Action tremor2ELOVL4 CL E G H678514415OMIM:133190Spinocerebellar ataxia 3462
HP:0004305HP:0001266Choreoathetosis2ELP2 CL E G H5525018248OMIM:617270Mental retardation, autosomal recessive 58.6
HP:0004305HP:0025357Erratic myoclonus2EPM2A CL E G H79573413ORPHA:501Lafora diseaseHP:0040282 - Frequent83
HP:0004305HP:0002345Action tremor2EPRS1 CL E G H20583418OMIM:617951Leukodystrophy, hypomyelinating, 15
HP:0004305HP:0002345Action tremor2ERCC2 CL E G H20683434ORPHA:33364Trichothiodystrophy106
HP:0004305HP:0001266Choreoathetosis2ERCC2 CL E G H20683434OMIM:278730Xeroderma pigmentosum, complementation group D.106
HP:0004305HP:0002345Action tremor2ERCC3 CL E G H20713435ORPHA:33364Trichothiodystrophy54
HP:0004305HP:0002345Action tremor2ERCC6 CL E G H20743438ORPHA:90324Cockayne syndrome type 3199
HP:0004305HP:0001266Choreoathetosis2ERCC6 CL E G H20743438OMIM:278800De Sanctis-Cacchione syndrome.199
HP:0004305HP:0002345Action tremor2ERCC8 CL E G H11613439ORPHA:90324Cockayne syndrome type 355
HP:0004305HP:0011448Ankle clonus2ERLIN2 CL E G H111601356ORPHA:209951Autosomal recessive spastic paraplegia type 18HP:0040283 - Occasional18
HP:0004305HP:0030188Tremor by anatomical site2ERLIN2 CL E G H111601356ORPHA:209951Autosomal recessive spastic paraplegia type 1818
HP:0004305HP:0011448Ankle clonus2ERLIN2 CL E G H111601356ORPHA:280384Recessive intellectual disability-motor dysfunction-multiple joint contractures syndromeHP:0040283 - Occasional18
HP:0004305HP:0030188Tremor by anatomical site2ERLIN2 CL E G H111601356ORPHA:280384Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome18
HP:0004305HP:0001308Tongue fasciculations2EXOSC3 CL E G H5101017944ORPHA:2254Pontocerebellar hypoplasia type 138
HP:0004305HP:0001308Tongue fasciculations2EXOSC3 CL E G H5101017944OMIM:614678Pontocerebellar hypoplasia, type 1B.38
HP:0004305HP:0001308Tongue fasciculations2EXOSC8 CL E G H1134017035ORPHA:2254Pontocerebellar hypoplasia type 14
HP:0004305HP:0001308Tongue fasciculations2EXOSC8 CL E G H1134017035OMIM:616081Pontocerebellar hypoplasia, type 1C4
HP:0004305HP:0001308Tongue fasciculations2EXOSC9 CL E G H53939137ORPHA:2254Pontocerebellar hypoplasia type 1
HP:0004305HP:0001308Tongue fasciculations2EXOSC9 CL E G H53939137OMIM:618065Pontocerebellar hypoplasia, type 1D
HP:0004305HP:0011448Ankle clonus2FA2H CL E G H7915221197ORPHA:171629Autosomal recessive spastic paraplegia type 35HP:0040282 - Frequent76
HP:0004305HP:0011448Ankle clonus2FA2H CL E G H7915221197OMIM:612319Spastic paraplegia 35, autosomal recessiveHP:0040283 - Occasional76
HP:0004305HP:0002345Action tremor2FARS2 CL E G H1066721062ORPHA:466722Autosomal recessive spastic paraplegia type 7736
HP:0004305HP:0001266Choreoathetosis2FBXL4 CL E G H2623513601OMIM:615471Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)HP:0040283 - Occasional384
HP:0004305HP:0001266Choreoathetosis2FBXO28 CL E G H2321929046OMIM:619777DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100
HP:0004305HP:0002345Action tremor2FBXO7 CL E G H2579313586ORPHA:171695Parkinsonian-pyramidal syndrome36
HP:0004305HP:0011448Ankle clonus2FGF13 CL E G H22583670OMIM:301058DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 90; DEE901
HP:0004305HP:0002345Action tremor2FGF14 CL E G H22593671OMIM:193003Nystagmus 4, congenital, autosomal dominant47
HP:0004305HP:0030188Tremor by anatomical site2FGF14 CL E G H22593671ORPHA:98764Spinocerebellar ataxia type 2747
HP:0004305HP:0002345Action tremor2FLVCR1 CL E G H2898224682ORPHA:88628Posterior column ataxia-retinitis pigmentosa syndrome111
HP:0004305HP:0100023Recurrent hand flapping2FMR1 CL E G H23323775OMIM:300624Fragile X mental retardation syndrome30
HP:0004305HP:0002322Resting tremor2FMR1 CL E G H23323775OMIM:300623Fragile X tremor/ataxia syndrome30
HP:0004305HP:0002345Action tremor2FMR1 CL E G H23323775OMIM:300623Fragile X tremor/ataxia syndrome30
HP:0004305HP:0002345Action tremor2FMR1 CL E G H23323775ORPHA:93256Fragile X-associated tremor/ataxia syndrome30
HP:0004305HP:0100023Recurrent hand flapping2FMR1 CL E G H23323775ORPHA:449291Symptomatic form of fragile X syndrome in female carriersHP:0040284 - Very rare30
HP:0004305HP:0100703Tongue thrusting2FOXG1 CL E G H22903811OMIM:613454Rett syndrome, congenital variant.177
HP:0004305HP:0008762Repetitive compulsive behavior2FOXP1 CL E G H270863823ORPHA:391372Intellectual disability-severe speech delay-mild dysmorphism syndromeHP:0040282 - Frequent184
HP:0004305HP:0001266Choreoathetosis2FRRS1L CL E G H237321362OMIM:616981Epileptic encephalopathy, early infantile, 37.4
HP:0004305HP:0001266Choreoathetosis2FTL CL E G H25123999OMIM:606159Neurodegeneration with brain iron accumulation 333
HP:0004305HP:0002322Resting tremor2FTL CL E G H25123999ORPHA:157846NeuroferritinopathyHP:0040284 - Very rare33
HP:0004305HP:0010530Palatal tremor2FTL CL E G H25123999ORPHA:157846NeuroferritinopathyHP:0040283 - Occasional33
HP:0004305HP:0002345Action tremor2FUS CL E G H25214010ORPHA:300605Juvenile amyotrophic lateral sclerosis105
HP:0004305HP:0030188Tremor by anatomical site2FUS CL E G H25214010ORPHA:300605Juvenile amyotrophic lateral sclerosis105
HP:0004305HP:0002345Action tremor2FUS CL E G H25214010OMIM:614782TREMOR, HEREDITARY ESSENTIAL, 4; ETM4105
HP:0004305HP:0002345Action tremor2FXN CL E G H23953951ORPHA:95Friedreich ataxia18
HP:0004305HP:0001308Tongue fasciculations2FXR1 CL E G H80874023OMIM:618823MYOPATHY, CONGENITAL PROXIMAL, WITH MINICORE LESIONS; MYOPMIL
HP:0004305HP:0001308Tongue fasciculations2FXR1 CL E G H80874023OMIM:618822MYOPATHY, CONGENITAL, WITH RESPIRATORY INSUFFICIENCY AND BONE FRACTURES; MYORIBF
HP:0004305HP:0002322Resting tremor2GABBR2 CL E G H95684507ORPHA:3095Atypical Rett syndrome5
HP:0004305HP:0100703Tongue thrusting2GABBR2 CL E G H95684507ORPHA:3095Atypical Rett syndromeHP:0040282 - Frequent5
HP:0004305HP:0012171Stereotypical hand wringing2GABBR2 CL E G H95684507ORPHA:3095Atypical Rett syndromeHP:0040281 - Very frequent5
HP:0004305HP:0045084Limb myoclonus2GABBR2 CL E G H95684507ORPHA:3095Atypical Rett syndromeHP:0040282 - Frequent5
HP:0004305HP:0045084Limb myoclonus2GABRA1 CL E G H25544075ORPHA:64280Childhood absence epilepsyHP:0040284 - Very rare134
HP:0004305HP:0030218Punding2GABRA1 CL E G H25544075ORPHA:64280Childhood absence epilepsyHP:0040283 - Occasional134
HP:0004305HP:0002345Action tremor2GABRA1 CL E G H25544075ORPHA:33069Dravet syndromeHP:0040283 - Occasional134
HP:0004305HP:0007000Morning myoclonic jerks2GABRA1 CL E G H25544075ORPHA:307Juvenile myoclonic epilepsyHP:0040281 - Very frequent134
HP:0004305HP:0045084Limb myoclonus2GABRB3 CL E G H25624083ORPHA:64280Childhood absence epilepsyHP:0040284 - Very rare57
HP:0004305HP:0030218Punding2GABRB3 CL E G H25624083ORPHA:64280Childhood absence epilepsyHP:0040283 - Occasional57
HP:0004305HP:0007000Morning myoclonic jerks2GABRD CL E G H25634084ORPHA:307Juvenile myoclonic epilepsyHP:0040281 - Very frequent10
HP:0004305HP:0045084Limb myoclonus2GABRG2 CL E G H25664087ORPHA:64280Childhood absence epilepsyHP:0040284 - Very rare139
HP:0004305HP:0030218Punding2GABRG2 CL E G H25664087ORPHA:64280Childhood absence epilepsyHP:0040283 - Occasional139
HP:0004305HP:0002345Action tremor2GABRG2 CL E G H25664087ORPHA:33069Dravet syndromeHP:0040283 - Occasional139
HP:0004305HP:0011448Ankle clonus2GALC CL E G H25814115ORPHA:206436Infantile Krabbe diseaseHP:0040283 - Occasional160
HP:0004305HP:0002345Action tremor2GALT CL E G H25924135ORPHA:79239Classic galactosemiaHP:0040282 - Frequent351
HP:0004305HP:0002322Resting tremor2GBA1 CL E G H26294177ORPHA:411602Hereditary late-onset Parkinson diseaseHP:0040282 - Frequent
HP:0004305HP:0002322Resting tremor2GBA1 CL E G H26294177OMIM:168600Parkinson disease, late-onset.
HP:0004305HP:0030188Tremor by anatomical site2GBA2 CL E G H5770418986ORPHA:352641Autosomal recessive cerebellar ataxia with late-onset spasticity30
HP:0004305HP:0030188Tremor by anatomical site2GBA2 CL E G H5770418986ORPHA:320391Autosomal recessive spastic paraplegia type 4630
HP:0004305HP:0011448Ankle clonus2GBA2 CL E G H5770418986OMIM:614409Spastic paraplegia 46, autosomal recessive.30
HP:0004305HP:0011449Knee clonus2GBA2 CL E G H5770418986OMIM:614409Spastic paraplegia 46, autosomal recessive.30
HP:0004305HP:0030188Tremor by anatomical site2GBA2 CL E G H5770418986OMIM:614409Spastic paraplegia 46, autosomal recessive30
HP:0004305HP:0001266Choreoathetosis2GCDH CL E G H26394189OMIM:231670Glutaric acidemia I.115
HP:0004305HP:0002345Action tremor2GCH1 CL E G H26434193ORPHA:98808Autosomal dominant dopa-responsive dystonia86
HP:0004305HP:0002322Resting tremor2GCH1 CL E G H26434193OMIM:128230Dystonia, DOPA-responsive, with or without hyperphenylalaninemia86
HP:0004305HP:0002345Action tremor2GCH1 CL E G H26434193OMIM:128230Dystonia, DOPA-responsive, with or without hyperphenylalaninemia86
HP:0004305HP:0001266Choreoathetosis2GCH1 CL E G H26434193OMIM:233910Hyperphenylalaninemia, BH4-deficient, B.86
HP:0004305HP:0030188Tremor by anatomical site2GCK CL E G H26454195ORPHA:79299Hyperinsulinism due to glucokinase deficiency237
HP:0004305HP:0010530Palatal tremor2GFAP CL E G H26704235OMIM:203450Alexander disease188
HP:0004305HP:0010530Palatal tremor2GFAP CL E G H26704235ORPHA:363717Alexander disease type I188
HP:0004305HP:0010530Palatal tremor2GFAP CL E G H26704235ORPHA:363722Alexander disease type II188
HP:0004305HP:0011448Ankle clonus2GFM2 CL E G H8434029682ORPHA:565624Combined oxidative phosphorylation defect type 39HP:0040283 - Occasional43
HP:0004305HP:0002322Resting tremor2GIGYF2 CL E G H2605811960ORPHA:411602Hereditary late-onset Parkinson diseaseHP:0040282 - Frequent8
HP:0004305HP:0002322Resting tremor2GIGYF2 CL E G H2605811960OMIM:607688PARKINSON DISEASE 11, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO; PARK118
HP:0004305HP:0030188Tremor by anatomical site2GJB1 CL E G H27054283OMIM:302800Charcot-Marie-Tooth neuropathy, X-linked dominant, 1107
HP:0004305HP:0002345Action tremor2GJB1 CL E G H27054283ORPHA:1175X-linked progressive cerebellar ataxia107
HP:0004305HP:0001266Choreoathetosis2GJC2 CL E G H5716517494OMIM:608804Leukodystrophy, hypomyelinating, 2.37
HP:0004305HP:0002345Action tremor2GJC2 CL E G H5716517494OMIM:608804Leukodystrophy, hypomyelinating, 237
HP:0004305HP:0030188Tremor by anatomical site2GJC2 CL E G H5716517494OMIM:608804Leukodystrophy, hypomyelinating, 237
HP:0004305HP:0002345Action tremor2GJC2 CL E G H5716517494OMIM:613206Spastic paraplegia 44, autosomal recessive37
HP:0004305HP:0002322Resting tremor2GLUD2 CL E G H27474336OMIM:168600Parkinson disease, late-onset.1
HP:0004305HP:0100703Tongue thrusting2GLYCTK CL E G H13215824247OMIM:220120D-GLYCERIC ACIDURIA6
HP:0004305HP:0040148Cortical myoclonus2GNA11 CL E G H27674379ORPHA:428Autosomal dominant hypocalcemiaHP:0040281 - Very frequent16
HP:0004305HP:0012171Stereotypical hand wringing2GNAI1 CL E G H27704384OMIM:619854
HP:0004305HP:0001266Choreoathetosis2GNAO1 CL E G H27754389ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional36
HP:0004305HP:0001266Choreoathetosis2GNAS CL E G H27784392ORPHA:79443Pseudohypoparathyroidism type 1AHP:0040283 - Occasional101
HP:0004305HP:0003739Myoclonic spasms2GNAS CL E G H27784392ORPHA:79443Pseudohypoparathyroidism type 1AHP:0040283 - Occasional101
HP:0004305HP:0003739Myoclonic spasms2GNAS CL E G H27784392ORPHA:94089Pseudohypoparathyroidism type 1BHP:0040283 - Occasional101
HP:0004305HP:0003739Myoclonic spasms2GNAS CL E G H27784392ORPHA:79444Pseudohypoparathyroidism type 1CHP:0040283 - Occasional101
HP:0004305HP:0100035Phonic tics2GNB1 CL E G H27824396OMIM:616973Mental retardation, autosomal dominant 4212
HP:0004305HP:0100034Motor tics2GNB1 CL E G H27824396OMIM:616973Mental retardation, autosomal dominant 4212
HP:0004305HP:0012172Stereotypical body rocking2GNB2 CL E G H27834398OMIM:619503NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0004305HP:0001266Choreoathetosis2GON7 CL E G H8452020356OMIM:619603GALLOWAY-MOWAT SYNDROME 9; GAMOS9
HP:0004305HP:0100034Motor tics2GRIA1 CL E G H28904571OMIM:6199273
HP:0004305HP:0012171Stereotypical hand wringing2GRIA2 CL E G H28914572OMIM:618917NEURODEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND BEHAVIORAL ABNORMALITIES; NEDLIB1
HP:0004305HP:0030188Tremor by anatomical site2GRIA3 CL E G H28924573OMIM:300699Mental retardation, X-linked 9430
HP:0004305HP:0001266Choreoathetosis2GRIK2 CL E G H28984580OMIM:619580NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND ATAXIA AND WITH OR WITHOUT SEIZURES; NEDLAS32
HP:0004305HP:0100023Recurrent hand flapping2GRIK2 CL E G H28984580OMIM:619580NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND ATAXIA AND WITH OR WITHOUT SEIZURES; NEDLAS32
HP:0004305HP:0100703Tongue thrusting2GRIK2 CL E G H28984580OMIM:619580NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND ATAXIA AND WITH OR WITHOUT SEIZURES; NEDLAS32
HP:0004305HP:0025097Eyelid myoclonus2GRIN1 CL E G H29024584ORPHA:208447Bilateral generalized polymicrogyriaHP:0040283 - Occasional108
HP:0004305HP:0001266Choreoathetosis2GRIN1 CL E G H29024584ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional108
HP:0004305HP:0012171Stereotypical hand wringing2GRIN2A CL E G H29034585ORPHA:289266Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutationHP:0040283 - Occasional434
HP:0004305HP:0001266Choreoathetosis2GRM7 CL E G H29174599ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional5
HP:0004305HP:0008762Repetitive compulsive behavior2GRN CL E G H28964601OMIM:607485Frontotemporal lobar degeneration with TDP43 inclusions.126
HP:0004305HP:0002345Action tremor2GSS CL E G H29374624OMIM:266130Glutathione synthetase deficiency39
HP:0004305HP:0002345Action tremor2GTF2E2 CL E G H29614651ORPHA:33364Trichothiodystrophy2
HP:0004305HP:0002345Action tremor2GTF2H5 CL E G H40467221157ORPHA:33364Trichothiodystrophy3
HP:0004305HP:0001266Choreoathetosis2GTPBP2 CL E G H546764670OMIM:617988Jaberi-Elahi syndrome.
HP:0004305HP:0001483Eye poking2GUCY2D CL E G H30004689OMIM:204000Leber congenital amaurosis, type I.124
HP:0004305HP:0001266Choreoathetosis2GUF1 CL E G H6055825799OMIM:617065Epileptic encephalopathy, early infantile, 40.2
HP:0004305HP:0012171Stereotypical hand wringing2H4C5 CL E G H83674790OMIM:619950
HP:0004305HP:0100035Phonic tics2HDC CL E G H30674855OMIM:137580Gilles de la tourette syndrome.1
HP:0004305HP:0100034Motor tics2HDC CL E G H30674855OMIM:137580Gilles de la tourette syndrome.1
HP:0004305HP:0100023Recurrent hand flapping2HECW2 CL E G H5752029853OMIM:617268Neurodevelopmental disorder with hypotonia, seizures, and absent language11
HP:0004305HP:0100023Recurrent hand flapping2HERC2 CL E G H89244868OMIM:615516Mental retardation, autosomal recessive 3838
HP:0004305HP:0002345Action tremor2HIBCH CL E G H262754908ORPHA:88639Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency32
HP:0004305HP:0030188Tremor by anatomical site2HIBCH CL E G H262754908ORPHA:88639Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency32
HP:0004305HP:0007289Limb fasciculations2HINT1 CL E G H30944912ORPHA:324442Autosomal recessive axonal neuropathy with neuromyotoniaHP:0040282 - Frequent12
HP:0004305HP:0100023Recurrent hand flapping2HNRNPH2 CL E G H31885042OMIM:300986MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE; MRXSB3
HP:0004305HP:0001266Choreoathetosis2HPRT1 CL E G H32515157OMIM:300322Lesch-Nyhan syndrome.76
HP:0004305HP:0001266Choreoathetosis2HSD17B10 CL E G H30284800ORPHA:391428HSD10 disease, infantile typeHP:0040283 - Occasional19
HP:0004305HP:0001266Choreoathetosis2HSD17B10 CL E G H30284800OMIM:300438HSD10 mitochondrial disease.19
HP:0004305HP:0002345Action tremor2HSD17B4 CL E G H32955213OMIM:233400Perrault syndrome 198
HP:0004305HP:0007289Limb fasciculations2HSPB1 CL E G H33155246ORPHA:99940Autosomal dominant Charcot-Marie-Tooth disease type 2FHP:0040281 - Very frequent47
HP:0004305HP:0001266Choreoathetosis2HSPD1 CL E G H33295261OMIM:612233Leukodystrophy, hypomyelinating, 4.46
HP:0004305HP:0011448Ankle clonus2HTT CL E G H30644851OMIM:617435Lopes-Maciel-Rodan syndrome.12
HP:0004305HP:0002345Action tremor2HYCC1 CL E G H8466824587OMIM:610532Leukodystrophy, hypomyelinating, 5
HP:0004305HP:0008762Repetitive compulsive behavior2IFNG CL E G H34585438ORPHA:805Tuberous sclerosis complexHP:0040282 - Frequent23
HP:0004305HP:0002345Action tremor2IFRD1 CL E G H34755456ORPHA:98771Spinocerebellar ataxia type 181
HP:0004305HP:0030188Tremor by anatomical site2IFRD1 CL E G H34755456ORPHA:98771Spinocerebellar ataxia type 181
HP:0004305HP:0002345Action tremor2IMPDH2 CL E G H36156053ORPHA:98808Autosomal dominant dopa-responsive dystonia1
HP:0004305HP:0003739Myoclonic spasms2INPP5E CL E G H5662321474OMIM:213300Joubert syndrome 1111
HP:0004305HP:0012171Stereotypical hand wringing2IQSEC2 CL E G H2309629059ORPHA:397933Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndromeHP:0040282 - Frequent119
HP:0004305HP:0001266Choreoathetosis2IREB2 CL E G H36586115OMIM:618451Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia.
HP:0004305HP:0001266Choreoathetosis2IRF2BPL CL E G H6420714282OMIM:618088Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures.
HP:0004305HP:0002345Action tremor2ITM2B CL E G H94456174OMIM:117300Dementia, familial danish3
HP:0004305HP:0030188Tremor by anatomical site2ITPA CL E G H37046176OMIM:616647Epileptic encephalopathy, early infantile, 358
HP:0004305HP:0002345Action tremor2ITPR1 CL E G H37086180OMIM:206700Gillespie syndrome177
HP:0004305HP:0002345Action tremor2ITPR1 CL E G H37086180OMIM:606658Spinocerebellar ataxia 15.177
HP:0004305HP:0002345Action tremor2ITPR1 CL E G H37086180OMIM:117360Spinocerebellar ataxia 29177
HP:0004305HP:0002345Action tremor2ITPR1 CL E G H37086180ORPHA:98769Spinocerebellar ataxia type 15/16HP:0040282 - Frequent177
HP:0004305HP:0030188Tremor by anatomical site2ITPR1 CL E G H37086180ORPHA:98769Spinocerebellar ataxia type 15/16HP:0040282 - Frequent177
HP:0004305HP:0002345Action tremor2ITPR1 CL E G H37086180ORPHA:208513Spinocerebellar ataxia type 29177
HP:0004305HP:0031986Polyminimyoclonus2JAG1 CL E G H1826188OMIM:619574CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2HH; CMT2HH257
HP:0004305HP:0002345Action tremor2JPH3 CL E G H5733814203OMIM:606438Huntington disease-like 2.2
HP:0004305HP:0045084Limb myoclonus2JRK CL E G H86296199ORPHA:64280Childhood absence epilepsyHP:0040284 - Very rare
HP:0004305HP:0030218Punding2JRK CL E G H86296199ORPHA:64280Childhood absence epilepsyHP:0040283 - Occasional
HP:0004305HP:0007000Morning myoclonic jerks2JRK CL E G H86296199ORPHA:307Juvenile myoclonic epilepsyHP:0040281 - Very frequent
HP:0004305HP:0001266Choreoathetosis2KCNA1 CL E G H37366218ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional145
HP:0004305HP:0001266Choreoathetosis2KCNA1 CL E G H37366218ORPHA:37612Episodic ataxia type 1HP:0040283 - Occasional145
HP:0004305HP:0012171Stereotypical hand wringing2KCNB1 CL E G H37456231OMIM:616056EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26; EIEE2665
HP:0004305HP:0025097Eyelid myoclonus2KCNC2 CL E G H37476234OMIM:619913
HP:0004305HP:0002345Action tremor2KCNC3 CL E G H37486235ORPHA:98768Spinocerebellar ataxia type 1317
HP:0004305HP:0002345Action tremor2KCND3 CL E G H37526239OMIM:607346Spinocerebellar ataxia 1935
HP:0004305HP:0002345Action tremor2KCNJ10 CL E G H37666256ORPHA:199343EAST syndromeHP:0040282 - Frequent121
HP:0004305HP:0002345Action tremor2KCNJ10 CL E G H37666256OMIM:612780Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance121
HP:0004305HP:0002345Action tremor2KCNK4 CL E G H508016279OMIM:618381Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome
HP:0004305HP:0001308Tongue fasciculations2KCNK9 CL E G H513056283ORPHA:166108Intellectual disability, Birk-Barel typeHP:0040283 - Occasional4
HP:0004305HP:0030188Tremor by anatomical site2KCNN2 CL E G H37816291OMIM:619724DYSTONIA 34, MYOCLONIC; DYT34
HP:0004305HP:0100034Motor tics2KCNN2 CL E G H37816291OMIM:619725NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE MOVEMENT OR BEHAVIORAL ABNORMALITIES; NEDMAB
HP:0004305HP:0002322Resting tremor2KCNN2 CL E G H37816291OMIM:619725NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE MOVEMENT OR BEHAVIORAL ABNORMALITIES; NEDMAB
HP:0004305HP:0002345Action tremor2KCNN2 CL E G H37816291OMIM:619725NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE MOVEMENT OR BEHAVIORAL ABNORMALITIES; NEDMAB
HP:0004305HP:0045084Limb myoclonus2KCNQ2 CL E G H37856296ORPHA:306Benign familial infantile epilepsyHP:0040283 - Occasional528
HP:0004305HP:0045084Limb myoclonus2KCNQ2 CL E G H37856296ORPHA:1949Benign familial neonatal epilepsyHP:0040282 - Frequent528
HP:0004305HP:0045084Limb myoclonus2KCNQ3 CL E G H37866297ORPHA:306Benign familial infantile epilepsyHP:0040283 - Occasional302
HP:0004305HP:0045084Limb myoclonus2KCNQ3 CL E G H37866297ORPHA:1949Benign familial neonatal epilepsyHP:0040282 - Frequent302
HP:0004305HP:0007000Morning myoclonic jerks2KCNQ3 CL E G H37866297ORPHA:307Juvenile myoclonic epilepsyHP:0040281 - Very frequent302
HP:0004305HP:0010531Spinal myoclonus2KCTD17 CL E G H7973425705ORPHA:36899Myoclonus-dystonia syndromeHP:0040281 - Very frequent1
HP:0004305HP:0045084Limb myoclonus2KCTD17 CL E G H7973425705ORPHA:36899Myoclonus-dystonia syndromeHP:0040281 - Very frequent1
HP:0004305HP:0045084Limb myoclonus2KCTD7 CL E G H15488121957ORPHA:263516Progressive myoclonic epilepsy type 3HP:0040283 - Occasional106
HP:0004305HP:0012462Chin myoclonus2KCTD7 CL E G H15488121957ORPHA:263516Progressive myoclonic epilepsy type 3HP:0040283 - Occasional106
HP:0004305HP:0100703Tongue thrusting2KIF15 CL E G H5699217273ORPHA:26132321q22.11q22.12 microdeletion syndromeHP:0040283 - Occasional
HP:0004305HP:0012172Stereotypical body rocking2KIF15 CL E G H5699217273ORPHA:26132321q22.11q22.12 microdeletion syndromeHP:0040283 - Occasional
HP:0004305HP:0011448Ankle clonus2KIF1A CL E G H547888OMIM:610357Spastic paraplegia 30, autosomal recessive.276
HP:0004305HP:0002345Action tremor2KIF1C CL E G H107496317ORPHA:397946Autosomal spastic paraplegia type 5838
HP:0004305HP:0025357Erratic myoclonus2KIF1C CL E G H107496317ORPHA:397946Autosomal spastic paraplegia type 58HP:0040282 - Frequent38
HP:0004305HP:0002345Action tremor2KIF1C CL E G H107496317OMIM:611302Spastic ataxia 2, autosomal recessive38
HP:0004305HP:0030188Tremor by anatomical site2KIF1C CL E G H107496317OMIM:611302Spastic ataxia 2, autosomal recessive38
HP:0004305HP:0011448Ankle clonus2KIF5A CL E G H37986323ORPHA:100991Autosomal dominant spastic paraplegia type 10HP:0040284 - Very rare93
HP:0004305HP:0011448Ankle clonus2KIF5A CL E G H37986323OMIM:604187Spastic paraplegia 10, autosomal dominant.93
HP:0004305HP:0011449Knee clonus2KIF5A CL E G H37986323OMIM:604187Spastic paraplegia 10, autosomal dominant.93
HP:0004305HP:0011448Ankle clonus2KLC2 CL E G H6483720716OMIM:609541Spastic paraplegia, optic atrophy, and neuropathy1
HP:0004305HP:0100023Recurrent hand flapping2KMT5B CL E G H5111124283OMIM:617788Mental retardation, autosomal dominant 512
HP:0004305HP:0002345Action tremor2KNSTRN CL E G H9041730767ORPHA:221139Combined immunodeficiency with faciooculoskeletal anomalies1
HP:0004305HP:0002345Action tremor2LAMA1 CL E G H2842176481ORPHA:370022Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome35
HP:0004305HP:0030188Tremor by anatomical site2LAMA1 CL E G H2842176481ORPHA:370022Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome35
HP:0004305HP:0012171Stereotypical hand wringing2LARP7 CL E G H5157424912ORPHA:319671Alazami syndromeHP:0040283 - Occasional16
HP:0004305HP:0002345Action tremor2LEMD2 CL E G H22149621244OMIM:619322MARBACH-RUSTAD PROGEROID SYNDROME; MARUPS1
HP:0004305HP:0001308Tongue fasciculations2LGI3 CL E G H20319018711OMIM:620007
HP:0004305HP:0002345Action tremor2LMAN2L CL E G H8156219263OMIM:6178631
HP:0004305HP:0002345Action tremor2LMNB1 CL E G H40016637ORPHA:99027Adult-onset autosomal dominant leukodystrophyHP:0040283 - Occasional44
HP:0004305HP:0030188Tremor by anatomical site2LMNB1 CL E G H40016637ORPHA:99027Adult-onset autosomal dominant leukodystrophy44
HP:0004305HP:0012171Stereotypical hand wringing2LMNB1 CL E G H40016637OMIM:619179MICROCEPHALY 26, PRIMARY, AUTOSOMAL DOMINANT; MCPH2644
HP:0004305HP:0002322Resting tremor2LRRK2 CL E G H12089218618ORPHA:411602Hereditary late-onset Parkinson diseaseHP:0040282 - Frequent221
HP:0004305HP:0002322Resting tremor2LRRK2 CL E G H12089218618OMIM:607060Parkinson disease 8, autosomal dominant.221
HP:0004305HP:0002345Action tremor2MAG CL E G H40996783ORPHA:459056Autosomal recessive spastic paraplegia type 754
HP:0004305HP:0002322Resting tremor2MAN1B1 CL E G H112536823ORPHA:397941MAN1B1-CDGHP:0040284 - Very rare93
HP:0004305HP:0002345Action tremor2MAOA CL E G H41286833OMIM:300615Brunner syndrome22
HP:0004305HP:0002322Resting tremor2MAPT CL E G H41376893OMIM:168600Parkinson disease, late-onset.140
HP:0004305HP:0045084Limb myoclonus2MAPT CL E G H41376893ORPHA:240103Progressive supranuclear palsy-corticobasal syndromeHP:0040282 - Frequent140
HP:0004305HP:0030188Tremor by anatomical site2MARCHF6 CL E G H1029930550ORPHA:86814Benign adult familial myoclonic epilepsy
HP:0004305HP:0030188Tremor by anatomical site2MARS1 CL E G H41416898ORPHA:401835Autosomal recessive spastic paraplegia type 70
HP:0004305HP:0100023Recurrent hand flapping2MBD5 CL E G H5577720444OMIM:156200Mental retardation, autosomal dominant 1252
HP:0004305HP:0002322Resting tremor2MECP2 CL E G H42046990ORPHA:3095Atypical Rett syndrome950
HP:0004305HP:0100703Tongue thrusting2MECP2 CL E G H42046990ORPHA:3095Atypical Rett syndromeHP:0040282 - Frequent950
HP:0004305HP:0012171Stereotypical hand wringing2MECP2 CL E G H42046990ORPHA:3095Atypical Rett syndromeHP:0040281 - Very frequent950
HP:0004305HP:0045084Limb myoclonus2MECP2 CL E G H42046990ORPHA:3095Atypical Rett syndromeHP:0040282 - Frequent950
HP:0004305HP:0008762Repetitive compulsive behavior2MECP2 CL E G H42046990OMIM:300260Mental retardation, x-linked syndromic, Lubs type950
HP:0004305HP:0001266Choreoathetosis2MECP2 CL E G H42046990OMIM:300055Mental retardation, X-linked, syndromic 13950
HP:0004305HP:0002322Resting tremor2MECP2 CL E G H42046990OMIM:300055Mental retardation, X-linked, syndromic 13950
HP:0004305HP:0012171Stereotypical hand wringing2MECP2 CL E G H42046990ORPHA:778Rett syndromeHP:0040281 - Very frequent950
HP:0004305HP:0012171Stereotypical hand wringing2MECP2 CL E G H42046990OMIM:312750Rett syndrome950
HP:0004305HP:0002322Resting tremor2MECP2 CL E G H42046990ORPHA:3077X-linked intellectual disability-psychosis-macroorchidism syndromeHP:0040283 - Occasional950
HP:0004305HP:0001266Choreoathetosis2MED23 CL E G H94392372OMIM:614249Mental retardation, autosomal recessive 1825
HP:0004305HP:0001308Tongue fasciculations2MEGF10 CL E G H8446629634OMIM:614399Myopathy, areflexia, respiratory distress, and dysphagia, early-onset158
HP:0004305HP:0002345Action tremor2MFN2 CL E G H992716877ORPHA:99947Autosomal dominant Charcot-Marie-Tooth disease type 2A2203
HP:0004305HP:0030188Tremor by anatomical site2MFN2 CL E G H992716877ORPHA:99947Autosomal dominant Charcot-Marie-Tooth disease type 2A2203
HP:0004305HP:0012171Stereotypical hand wringing2MGAT2 CL E G H42477045ORPHA:79329MGAT2-CDGHP:0040283 - Occasional39
HP:0004305HP:0001266Choreoathetosis2MICOS13 CL E G H12598833702ORPHA:670473-methylglutaconic aciduria type 3HP:0040281 - Very frequent
HP:0004305HP:0001266Choreoathetosis2MICU1 CL E G H103671530OMIM:615673Myopathy with extrapyramidal signs14
HP:0004305HP:0002322Resting tremor2MICU1 CL E G H103671530ORPHA:401768Proximal myopathy with extrapyramidal signsHP:0040282 - Frequent14
HP:0004305HP:0001266Choreoathetosis2MMUT CL E G H45947526ORPHA:79312Vitamin B12-unresponsive methylmalonic acidemia type mut-HP:0040283 - Occasional
HP:0004305HP:0001266Choreoathetosis2MMUT CL E G H45947526ORPHA:289916Vitamin B12-unresponsive methylmalonic acidemia type mut0HP:0040283 - Occasional
HP:0004305HP:0003739Myoclonic spasms2MOCS1 CL E G H43377190OMIM:252150Molybdenum cofactor deficiency, complementation group A.96
HP:0004305HP:0003739Myoclonic spasms2MOCS2 CL E G H43387193OMIM:252160Molybdenum cofactor deficiency, complementation group B.26
HP:0004305HP:0030188Tremor by anatomical site2MORC2 CL E G H2288023573ORPHA:466768Autosomal dominant Charcot-Marie-Tooth disease type 2Z8
HP:0004305HP:0002345Action tremor2MPLKIP CL E G H13664716002ORPHA:33364Trichothiodystrophy9
HP:0004305HP:0001308Tongue fasciculations2MPZ CL E G H43597225OMIM:145900Hypertrophic neuropathy of dejerine-sottas134
HP:0004305HP:0002345Action tremor2MPZ CL E G H43597225ORPHA:3115Roussy-Lévy syndrome134
HP:0004305HP:0002345Action tremor2MPZ CL E G H43597225OMIM:180800Roussy-Levy hereditary areflexic dystasia.134
HP:0004305HP:0030188Tremor by anatomical site2MPZ CL E G H43597225OMIM:180800Roussy-Levy hereditary areflexic dystasia134
HP:0004305HP:0002345Action tremor2MRE11 CL E G H43617230ORPHA:251347Ataxia-telangiectasia-like disorder532
HP:0004305HP:0001266Choreoathetosis2MRPS34 CL E G H6599316618OMIM:617664Combined oxidative phosphorylation deficiency 32.1
HP:0004305HP:0011449Knee clonus2MTRFR CL E G H9157426784OMIM:615035Spastic paraplegia 55, autosomal recessive
HP:0004305HP:0002345Action tremor2MYBPC1 CL E G H46047549OMIM:618524MYOPATHY, CONGENITAL, WITH TREMOR; MYOTREM66
HP:0004305HP:0030188Tremor by anatomical site2MYBPC1 CL E G H46047549OMIM:618524MYOPATHY, CONGENITAL, WITH TREMOR; MYOTREM66
HP:0004305HP:0100023Recurrent hand flapping2NAA20 CL E G H5112615908OMIM:619717INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 73; MRT73
HP:0004305HP:0012171Stereotypical hand wringing2NACC1 CL E G H11293920967ORPHA:500545Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataractHP:0040281 - Very frequent1
HP:0004305HP:0001266Choreoathetosis2NADK2 CL E G H13368626404OMIM:6160342,4-Dienoyl-Coa reductase deficiency.14
HP:0004305HP:0001266Choreoathetosis2NADK2 CL E G H13368626404ORPHA:431361Progressive encephalopathy with leukodystrophy due to DECR deficiencyHP:0040282 - Frequent14
HP:0004305HP:0002345Action tremor2ND1 CL E G H45357455ORPHA:104Leber hereditary optic neuropathy
HP:0004305HP:0002345Action tremor2ND1 CL E G H45357455OMIM:535000Leber optic atrophy
HP:0004305HP:0002345Action tremor2ND2 CL E G H45367456ORPHA:104Leber hereditary optic neuropathy
HP:0004305HP:0002345Action tremor2ND2 CL E G H45367456OMIM:535000Leber optic atrophy
HP:0004305HP:0002345Action tremor2ND4 CL E G H45387459ORPHA:104Leber hereditary optic neuropathy
HP:0004305HP:0002345Action tremor2ND4 CL E G H45387459OMIM:535000Leber optic atrophy
HP:0004305HP:0002345Action tremor2ND4L CL E G H45397460ORPHA:104Leber hereditary optic neuropathy
HP:0004305HP:0002345Action tremor2ND4L CL E G H45397460OMIM:535000Leber optic atrophy
HP:0004305HP:0002345Action tremor2ND5 CL E G H45407461ORPHA:104Leber hereditary optic neuropathy
HP:0004305HP:0002345Action tremor2ND5 CL E G H45407461OMIM:535000Leber optic atrophy
HP:0004305HP:0002345Action tremor2ND6 CL E G H45417462ORPHA:104Leber hereditary optic neuropathy
HP:0004305HP:0002345Action tremor2ND6 CL E G H45417462OMIM:535000Leber optic atrophy
HP:0004305HP:0002345Action tremor2NDRG1 CL E G H103977679ORPHA:99950Charcot-Marie-Tooth disease type 4D82
HP:0004305HP:0001266Choreoathetosis2NDUFA1 CL E G H46947683OMIM:301020Mitochondrial complex I deficiency, nuclear type 12.7
HP:0004305HP:0001266Choreoathetosis2NDUFA13 CL E G H5107917194OMIM:618249Mitochondrial complex I deficiency, nuclear type 28.3
HP:0004305HP:0001266Choreoathetosis2NDUFA9 CL E G H47047693OMIM:618247Mitochondrial complex I deficiency, nuclear type 26.27
HP:0004305HP:0001266Choreoathetosis2NDUFAF5 CL E G H7913315899OMIM:618238Mitochondrial complex I deficiency, nuclear type 1634
HP:0004305HP:0002345Action tremor2NDUFS2 CL E G H47207708ORPHA:104Leber hereditary optic neuropathy65
HP:0004305HP:0001308Tongue fasciculations2NDUFS4 CL E G H47247711OMIM:252010Mitochondrial complex I deficiency, nuclear type 127
HP:0004305HP:0011448Ankle clonus2NDUFS8 CL E G H47287715OMIM:618222Mitochondrial complex I deficiency, nuclear type 242
HP:0004305HP:0030188Tremor by anatomical site2NEFL CL E G H47477739ORPHA:101085Charcot-Marie-Tooth disease type 1F118
HP:0004305HP:0001266Choreoathetosis2NEUROD2 CL E G H47617763ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional
HP:0004305HP:0100023Recurrent hand flapping2NEXMIF CL E G H34053329433OMIM:300912Mental retardation, X-linked 9852
HP:0004305HP:0012171Stereotypical hand wringing2NEXMIF CL E G H34053329433OMIM:300912Mental retardation, X-linked 9852
HP:0004305HP:0012172Stereotypical body rocking2NEXMIF CL E G H34053329433OMIM:300912Mental retardation, X-linked 9852
HP:0004305HP:0003739Myoclonic spasms2NF2 CL E G H47717773ORPHA:2495Meningioma220
HP:0004305HP:0002345Action tremor2NFASC CL E G H2311429866OMIM:618356Neurodevelopmental disorder with central and peripheral motor dysfunction
HP:0004305HP:0002345Action tremor2NGLY1 CL E G H5576817646ORPHA:404454Alacrimia-choreoathetosis-liver dysfunction syndromeHP:0040283 - Occasional32
HP:0004305HP:0002345Action tremor2NGLY1 CL E G H5576817646OMIM:615273Congenital disorder of deglycosylation32
HP:0004305HP:0025357Erratic myoclonus2NHLRC1 CL E G H37888421576ORPHA:501Lafora diseaseHP:0040282 - Frequent77
HP:0004305HP:0002345Action tremor2NIPA1 CL E G H12360617043ORPHA:100988Autosomal dominant spastic paraplegia type 6117
HP:0004305HP:0001266Choreoathetosis2NKX2-1 CL E G H708011825ORPHA:209905Brain-lung-thyroid syndromeHP:0040282 - Frequent51
HP:0004305HP:0002345Action tremor2NKX2-1 CL E G H708011825ORPHA:209905Brain-lung-thyroid syndrome51
HP:0004305HP:0001266Choreoathetosis2NKX2-1 CL E G H708011825OMIM:610978Choreoathetosis, hypothyroidism, and neonatal respiratory distress51
HP:0004305HP:0002345Action tremor2NKX6-2 CL E G H8450419321ORPHA:527497NKX6-2-related autosomal recessive hypomyelinating leukodystrophy2
HP:0004305HP:0030188Tremor by anatomical site2NKX6-2 CL E G H8450419321ORPHA:527497NKX6-2-related autosomal recessive hypomyelinating leukodystrophy2
HP:0004305HP:0002345Action tremor2NKX6-2 CL E G H8450419321OMIM:617560Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy2
HP:0004305HP:0030188Tremor by anatomical site2NKX6-2 CL E G H8450419321OMIM:617560Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy2
HP:0004305HP:0001483Eye poking2NMNAT1 CL E G H6480217877OMIM:608553Leber congenital amaurosis 915
HP:0004305HP:0002345Action tremor2NONO CL E G H48417871ORPHA:466791Macrocephaly-intellectual disability-left ventricular non compaction syndrome10
HP:0004305HP:0001308Tongue fasciculations2NOP56 CL E G H1052815911OMIM:614153Spinocerebellar ataxia 369
HP:0004305HP:0001308Tongue fasciculations2NOP56 CL E G H1052815911ORPHA:276198Spinocerebellar ataxia type 36HP:0040282 - Frequent9
HP:0004305HP:0002345Action tremor2NOP56 CL E G H1052815911ORPHA:276198Spinocerebellar ataxia type 369
HP:0004305HP:0045084Limb myoclonus2NOP56 CL E G H1052815911ORPHA:276198Spinocerebellar ataxia type 36HP:0040284 - Very rare9
HP:0004305HP:0030188Tremor by anatomical site2NOP56 CL E G H1052815911ORPHA:276198Spinocerebellar ataxia type 369
HP:0004305HP:0002345Action tremor2NOTCH2NLC CL E G H10099671753924OMIM:618866TREMOR, HEREDITARY ESSENTIAL, 6; ETM6
HP:0004305HP:0030188Tremor by anatomical site2NOTCH2NLC CL E G H10099671753924OMIM:618866TREMOR, HEREDITARY ESSENTIAL, 6; ETM6
HP:0004305HP:0100023Recurrent hand flapping2NOVA2 CL E G H48587887OMIM:618859Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities
HP:0004305HP:0008762Repetitive compulsive behavior2NR2F1 CL E G H70257975ORPHA:401777Optic atrophy-intellectual disability syndromeHP:0040283 - Occasional37
HP:0004305HP:0002322Resting tremor2NR4A2 CL E G H49297981OMIM:61991127
HP:0004305HP:0002345Action tremor2NR4A2 CL E G H49297981OMIM:61991127
HP:0004305HP:0002345Action tremor2NR4A2 CL E G H49297981ORPHA:98808Autosomal dominant dopa-responsive dystonia27
HP:0004305HP:0002322Resting tremor2NR4A2 CL E G H49297981OMIM:168600Parkinson disease, late-onset.27
HP:0004305HP:0002322Resting tremor2NTNG1 CL E G H2285423319ORPHA:3095Atypical Rett syndrome1
HP:0004305HP:0100703Tongue thrusting2NTNG1 CL E G H2285423319ORPHA:3095Atypical Rett syndromeHP:0040282 - Frequent1
HP:0004305HP:0012171Stereotypical hand wringing2NTNG1 CL E G H2285423319ORPHA:3095Atypical Rett syndromeHP:0040281 - Very frequent1
HP:0004305HP:0045084Limb myoclonus2NTNG1 CL E G H2285423319ORPHA:3095Atypical Rett syndromeHP:0040282 - Frequent1
HP:0004305HP:0001266Choreoathetosis2NUP62 CL E G H236368066ORPHA:225154Familial infantile bilateral striatal necrosisHP:0040282 - Frequent7
HP:0004305HP:0001266Choreoathetosis2NUP62 CL E G H236368066OMIM:271930Striatonigral degeneration, infantile.7
HP:0004305HP:0100023Recurrent hand flapping2OCA2 CL E G H49488101ORPHA:98794Angelman syndrome due to maternal 15q11q13 deletionHP:0040283 - Occasional121
HP:0004305HP:0100703Tongue thrusting2OCA2 CL E G H49488101ORPHA:98794Angelman syndrome due to maternal 15q11q13 deletionHP:0040282 - Frequent121
HP:0004305HP:0001266Choreoathetosis2OPA3 CL E G H802078142ORPHA:670473-methylglutaconic aciduria type 3HP:0040281 - Very frequent163
HP:0004305HP:0002322Resting tremor2OPA3 CL E G H802078142ORPHA:67036Autosomal dominant optic atrophy and cataractHP:0040283 - Occasional163
HP:0004305HP:0002345Action tremor2OPA3 CL E G H802078142ORPHA:67036Autosomal dominant optic atrophy and cataract163
HP:0004305HP:0002345Action tremor2OPHN1 CL E G H49838148ORPHA:137831X-linked intellectual disability-cerebellar hypoplasia syndrome55
HP:0004305HP:0001308Tongue fasciculations2OPTN CL E G H1013317142OMIM:613435Amyotrophic lateral sclerosis 12.62
HP:0004305HP:0001266Choreoathetosis2PANK2 CL E G H8002515894OMIM:234200Neurodegeneration with brain iron accumulation 1.55
HP:0004305HP:0100035Phonic tics2PANK2 CL E G H8002515894OMIM:234200Neurodegeneration with brain iron accumulation 155
HP:0004305HP:0100034Motor tics2PANK2 CL E G H8002515894OMIM:234200Neurodegeneration with brain iron accumulation 1.55
HP:0004305HP:0002322Resting tremor2PARK7 CL E G H1131516369OMIM:606324PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET; PARK723
HP:0004305HP:0002345Action tremor2PARK7 CL E G H1131516369OMIM:606324PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET; PARK723
HP:0004305HP:0002345Action tremor2PCDH19 CL E G H5752614270ORPHA:33069Dravet syndromeHP:0040283 - Occasional225
HP:0004305HP:0001266Choreoathetosis2PDE2A CL E G H51388777ORPHA:31709Infantile convulsions and choreoathetosisHP:0040282 - Frequent
HP:0004305HP:0100034Motor tics2PDGFB CL E G H51558800OMIM:615483Basal ganglia calcification, idiopathic, 5.9
HP:0004305HP:0003739Myoclonic spasms2PDGFB CL E G H51558800ORPHA:2495Meningioma9
HP:0004305HP:0001266Choreoathetosis2PDHA1 CL E G H51608806OMIM:312170Pyruvate dehydrogenase e1-alpha deficiency.88
HP:0004305HP:0030188Tremor by anatomical site2PDK3 CL E G H51658811OMIM:300905Charcot-Marie-Tooth disease, X-linked dominant, 64
HP:0004305HP:0030188Tremor by anatomical site2PDK3 CL E G H51658811ORPHA:352675X-linked Charcot-Marie-Tooth disease type 64
HP:0004305HP:0100023Recurrent hand flapping2PDZD8 CL E G H11898726974OMIM:620021
HP:0004305HP:0002345Action tremor2PEX10 CL E G H51928851OMIM:614871Peroxisome biogenesis disorder 6B75
HP:0004305HP:0011448Ankle clonus2PEX16 CL E G H94098857OMIM:614877Peroxisome biogenesis disorder 8B59
HP:0004305HP:0030188Tremor by anatomical site2PEX16 CL E G H94098857OMIM:614877Peroxisome biogenesis disorder 8B59
HP:0004305HP:0030188Tremor by anatomical site2PEX6 CL E G H51908859ORPHA:95433Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome98
HP:0004305HP:0030188Tremor by anatomical site2PGAP1 CL E G H8005525712ORPHA:401820Autosomal recessive spastic paraplegia type 6720
HP:0004305HP:0040148Cortical myoclonus2PGM3 CL E G H52388907OMIM:615816Immunodeficiency 2315
HP:0004305HP:0040148Cortical myoclonus2PGM3 CL E G H52388907ORPHA:443811PGM3-CDGHP:0040283 - Occasional15
HP:0004305HP:0030188Tremor by anatomical site2PHIP CL E G H5502315673ORPHA:589905PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome11
HP:0004305HP:0002345Action tremor2PI4KA CL E G H52978983OMIM:619708GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 2; GIDID211
HP:0004305HP:0030188Tremor by anatomical site2PI4KA CL E G H52978983OMIM:619708GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 2; GIDID211
HP:0004305HP:0011448Ankle clonus2PI4KA CL E G H52978983OMIM:619621SPASTIC PARAPLEGIA 84, AUTOSOMAL RECESSIVE; SPG8411
HP:0004305HP:0002345Action tremor2PIGA CL E G H52778957OMIM:301072NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS; NEDEPH46
HP:0004305HP:0001266Choreoathetosis2PIGN CL E G H235568967OMIM:614080Multiple congenital anomalies-hypotonia-seizures syndrome 1HP:0040282 - Frequent37
HP:0004305HP:0001266Choreoathetosis2PIGP CL E G H512273046ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional2
HP:0004305HP:0001266Choreoathetosis2PIGQ CL E G H909114135ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional3
HP:0004305HP:0011448Ankle clonus2PIGT CL E G H5160414938OMIM:615398Multiple congenital anomalies-hypotonia-seizures syndrome 3.12
HP:0004305HP:0002345Action tremor2PIK3CA CL E G H52908975OMIM:615108Cowden syndrome 5162
HP:0004305HP:0003739Myoclonic spasms2PIK3CA CL E G H52908975ORPHA:2495Meningioma162
HP:0004305HP:0002345Action tremor2PIK3CD CL E G H52938977ORPHA:221139Combined immunodeficiency with faciooculoskeletal anomalies9
HP:0004305HP:0001266Choreoathetosis2PIK3R5 CL E G H2353330035ORPHA:64753Spinocerebellar ataxia with axonal neuropathy type 2HP:0040283 - Occasional11
HP:0004305HP:0002345Action tremor2PIK3R5 CL E G H2353330035ORPHA:64753Spinocerebellar ataxia with axonal neuropathy type 211
HP:0004305HP:0030188Tremor by anatomical site2PIK3R5 CL E G H2353330035ORPHA:64753Spinocerebellar ataxia with axonal neuropathy type 211
HP:0004305HP:0002322Resting tremor2PINK1 CL E G H6501814581OMIM:605909Parkinson disease 6, autosomal recessive early-onset.55
HP:0004305HP:0002345Action tremor2PITRM1 CL E G H1053117663OMIM:619405SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 30; SCAR301
HP:0004305HP:0002345Action tremor2PLA2G6 CL E G H83989039OMIM:610217Neurodegeneration with brain iron accumulation 2B133
HP:0004305HP:0002322Resting tremor2PLA2G6 CL E G H83989039OMIM:612953Parkinson disease 14, autosomal recessive133
HP:0004305HP:0002345Action tremor2PLA2G6 CL E G H83989039OMIM:612953Parkinson disease 14, autosomal recessive133
HP:0004305HP:0025097Eyelid myoclonus2PLA2G6 CL E G H83989039OMIM:612953Parkinson disease 14, autosomal recessive133
HP:0004305HP:0011448Ankle clonus2PLA2G6 CL E G H83989039OMIM:612953Parkinson disease 14, autosomal recessive133
HP:0004305HP:0030188Tremor by anatomical site2PLA2G6 CL E G H83989039OMIM:612953Parkinson disease 14, autosomal recessive133
HP:0004305HP:0001266Choreoathetosis2PLP1 CL E G H53549086OMIM:312080Pelizaeus-Merzbacher disease60
HP:0004305HP:0002345Action tremor2PLP1 CL E G H53549086OMIM:312080Pelizaeus-Merzbacher disease60
HP:0004305HP:0030188Tremor by anatomical site2PLP1 CL E G H53549086OMIM:312080Pelizaeus-Merzbacher disease60
HP:0004305HP:0002345Action tremor2PLP1 CL E G H53549086ORPHA:280219Pelizaeus-Merzbacher disease, classic form60
HP:0004305HP:0030188Tremor by anatomical site2PLP1 CL E G H53549086ORPHA:280219Pelizaeus-Merzbacher disease, classic form60
HP:0004305HP:0002345Action tremor2PLP1 CL E G H53549086ORPHA:280210Pelizaeus-Merzbacher disease, connatal form60
HP:0004305HP:0002345Action tremor2PMM2 CL E G H53739115OMIM:212065Congenital disorder of glycosylation, type Ia150
HP:0004305HP:0030188Tremor by anatomical site2PMP2 CL E G H53759117OMIM:618279Charcot-Marie-Tooth disease, demyelinating, type 1G1
HP:0004305HP:0001308Tongue fasciculations2PMP22 CL E G H53769118OMIM:145900Hypertrophic neuropathy of dejerine-sottas79
HP:0004305HP:0002345Action tremor2PMP22 CL E G H53769118ORPHA:3115Roussy-Lévy syndrome79
HP:0004305HP:0002345Action tremor2PMP22 CL E G H53769118OMIM:180800Roussy-Levy hereditary areflexic dystasia.79
HP:0004305HP:0030188Tremor by anatomical site2PMP22 CL E G H53769118OMIM:180800Roussy-Levy hereditary areflexic dystasia79
HP:0004305HP:0001266Choreoathetosis2PNKD CL E G H259539153ORPHA:98810Paroxysmal non-kinesigenic dyskinesiaHP:0040282 - Frequent66
HP:0004305HP:0001266Choreoathetosis2PNKD CL E G H259539153OMIM:118800Paroxysmal nonkinesigenic dyskinesia 166
HP:0004305HP:0001266Choreoathetosis2PNKP CL E G H112849154ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional244
HP:0004305HP:0002345Action tremor2PNPLA6 CL E G H1090816268OMIM:215470Boucher-Neuhauser syndrome103
HP:0004305HP:0001266Choreoathetosis2PNPT1 CL E G H8717823166ORPHA:319514Combined oxidative phosphorylation defect type 13HP:0040282 - Frequent60
HP:0004305HP:0001266Choreoathetosis2PNPT1 CL E G H8717823166OMIM:614932Combined oxidative phosphorylation deficiency 1360
HP:0004305HP:0002322Resting tremor2PODXL CL E G H54209171ORPHA:391411Atypical juvenile parkinsonismHP:0040281 - Very frequent6
HP:0004305HP:0001266Choreoathetosis2POLG CL E G H54289179ORPHA:726Alpers-Huttenlocher syndromeHP:0040282 - Frequent464
HP:0004305HP:0002322Resting tremor2POLG CL E G H54289179ORPHA:254892Autosomal dominant progressive external ophthalmoplegiaHP:0040282 - Frequent464
HP:0004305HP:0002345Action tremor2POLG CL E G H54289179ORPHA:254886Autosomal recessive progressive external ophthalmoplegiaHP:0040283 - Occasional464
HP:0004305HP:0002322Resting tremor2POLG CL E G H54289179OMIM:157640Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1.464
HP:0004305HP:0030188Tremor by anatomical site2POLG CL E G H54289179OMIM:157640Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1464
HP:0004305HP:0002345Action tremor2POLG CL E G H54289179OMIM:258450Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive464
HP:0004305HP:0002322Resting tremor2POLG2 CL E G H112329180ORPHA:254892Autosomal dominant progressive external ophthalmoplegiaHP:0040282 - Frequent45
HP:0004305HP:0002345Action tremor2POLR3A CL E G H1112830074OMIM:607694Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism138
HP:0004305HP:0002345Action tremor2POLR3A CL E G H1112830074ORPHA:447896Tremor-ataxia-central hypomyelination syndrome138
HP:0004305HP:0002345Action tremor2POLR3A CL E G H1112830074ORPHA:3455Wiedemann-Rautenstrauch syndromeHP:0040283 - Occasional138
HP:0004305HP:0002345Action tremor2POLR3A CL E G H1112830074OMIM:264090Wiedemann-Rautenstrauch syndrome138
HP:0004305HP:0002345Action tremor2POLR3B CL E G H5570330348OMIM:607694Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism67
HP:0004305HP:0002345Action tremor2POLR3B CL E G H5570330348OMIM:614381Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism67
HP:0004305HP:0001266Choreoathetosis2POU3F3 CL E G H54559216OMIM:618604SNIJDERS BLOK-FISHER SYNDROME; SNIBFIS
HP:0004305HP:0011448Ankle clonus2POU3F4 CL E G H54569217ORPHA:1435Xq21 microdeletion syndromeHP:0040282 - Frequent40
HP:0004305HP:0002345Action tremor2POU4F1 CL E G H54579218OMIM:619352ATAXIA, INTENTION TREMOR, AND HYPOTONIA SYNDROME, CHILDHOOD-ONSET; ATITHS
HP:0004305HP:0002345Action tremor2POU4F1 CL E G H54579218ORPHA:314647Non-progressive cerebellar ataxia with intellectual disability
HP:0004305HP:0002345Action tremor2PPP1R15B CL E G H8491914951OMIM:616817Microcephaly, short stature, and impaired glucose metabolism 22
HP:0004305HP:0002345Action tremor2PPP2R2B CL E G H55219305OMIM:604326Spinocerebellar ataxia 12.5
HP:0004305HP:0030188Tremor by anatomical site2PPP2R2B CL E G H55219305OMIM:604326Spinocerebellar ataxia 125
HP:0004305HP:0002345Action tremor2PPP2R2B CL E G H55219305ORPHA:98762Spinocerebellar ataxia type 12HP:0040282 - Frequent5
HP:0004305HP:0030188Tremor by anatomical site2PPP2R2B CL E G H55219305ORPHA:98762Spinocerebellar ataxia type 12HP:0040282 - Frequent5
HP:0004305HP:0002345Action tremor2PRDX3 CL E G H109359354OMIM:619862
HP:0004305HP:0045084Limb myoclonus2PRDX3 CL E G H109359354OMIM:619862
HP:0004305HP:0002345Action tremor2PRICKLE1 CL E G H14416517019ORPHA:308Progressive myoclonic epilepsy type 1133
HP:0004305HP:0007000Morning myoclonic jerks2PRICKLE1 CL E G H14416517019ORPHA:308Progressive myoclonic epilepsy type 1HP:0040281 - Very frequent133
HP:0004305HP:0100023Recurrent hand flapping2PRKAR1B CL E G H55759390OMIM:619680MARBACH-SCHAAF NEURODEVELOPMENTAL SYNDROME; MASNS2
HP:0004305HP:0002345Action tremor2PRKRA CL E G H85759438OMIM:612067Dystonia 1637
HP:0004305HP:0002345Action tremor2PRKRA CL E G H85759438ORPHA:210571Dystonia 1637
HP:0004305HP:0045084Limb myoclonus2PRNP CL E G H56219449ORPHA:356Gerstmann-Straussler-Scheinker syndromeHP:0040283 - Occasional69
HP:0004305HP:0045084Limb myoclonus2PRRT2 CL E G H11247630500ORPHA:306Benign familial infantile epilepsyHP:0040283 - Occasional94
HP:0004305HP:0001266Choreoathetosis2PRRT2 CL E G H11247630500OMIM:602066Convulsions, familial infantile, with paroxysmal choreoathetosis94
HP:0004305HP:0001266Choreoathetosis2PRRT2 CL E G H11247630500OMIM:128200Episodic kinesigenic dyskinesia 194
HP:0004305HP:0001308Tongue fasciculations2PRRT2 CL E G H11247630500ORPHA:569Familial or sporadic hemiplegic migraineHP:0040282 - Frequent94
HP:0004305HP:0001266Choreoathetosis2PRRT2 CL E G H11247630500ORPHA:31709Infantile convulsions and choreoathetosisHP:0040282 - Frequent94
HP:0004305HP:0001266Choreoathetosis2PRRT2 CL E G H11247630500ORPHA:98811Paroxysmal exertion-induced dyskinesiaHP:0040281 - Very frequent94
HP:0004305HP:0001266Choreoathetosis2PRRT2 CL E G H11247630500ORPHA:98810Paroxysmal non-kinesigenic dyskinesiaHP:0040282 - Frequent94
HP:0004305HP:0001308Tongue fasciculations2PRUNE1 CL E G H5849713420ORPHA:544469PRUNE1-related neurological syndrome8
HP:0004305HP:0001308Tongue fasciculations2PRX CL E G H5771613797OMIM:145900Hypertrophic neuropathy of dejerine-sottas170
HP:0004305HP:0002345Action tremor2PSAP CL E G H56609498OMIM:610539Gaucher disease, atypical81
HP:0004305HP:0011448Ankle clonus2PSAP CL E G H56609498ORPHA:206436Infantile Krabbe diseaseHP:0040283 - Occasional81
HP:0004305HP:0002345Action tremor2PSAP CL E G H56609498ORPHA:309271Metachromatic leukodystrophy, adult form81
HP:0004305HP:0002345Action tremor2PSAP CL E G H56609498ORPHA:309263Metachromatic leukodystrophy, juvenile form81
HP:0004305HP:0002322Resting tremor2PSAP CL E G H56609498OMIM:619491PARKINSON DISEASE 24, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO; PARK2481
HP:0004305HP:0100034Motor tics2PTCHD1 CL E G H13941126392OMIM:300830Autism, susceptibility to, X-linked 4.34
HP:0004305HP:0002345Action tremor2PTEN CL E G H57289588OMIM:158350Cowden syndrome 1948
HP:0004305HP:0001266Choreoathetosis2PTS CL E G H58059689ORPHA:136-pyruvoyl-tetrahydropterin synthase deficiencyHP:0040283 - Occasional19
HP:0004305HP:0001266Choreoathetosis2PTS CL E G H58059689OMIM:261640Hyperphenylalaninemia, BH4-deficient, A.19
HP:0004305HP:0001266Choreoathetosis2QDPR CL E G H58609752OMIM:261630Hyperphenylalaninemia, bh4-deficient, C.43
HP:0004305HP:0002345Action tremor2QRICH1 CL E G H5487024713OMIM:617982VERVERI-BRADY SYNDROME; VERBRAS
HP:0004305HP:0011448Ankle clonus2RAB18 CL E G H2293114244OMIM:614222Warburg micro syndrome 3.85
HP:0004305HP:0002322Resting tremor2RAB39B CL E G H11644216499OMIM:311510Waisman syndrome.34
HP:0004305HP:0030188Tremor by anatomical site2RAB3GAP2 CL E G H2578217168ORPHA:401830Autosomal recessive spastic paraplegia type 69135
HP:0004305HP:0040148Cortical myoclonus2RAPGEF2 CL E G H969316854OMIM:618075EPILEPSY, FAMILIAL ADULT MYOCLONIC, 7; FAME7
HP:0004305HP:0002345Action tremor2RARS1 CL E G H59179870OMIM:616140Leukodystrophy, hypomyelinating, 9
HP:0004305HP:0002345Action tremor2RARS1 CL E G H59179870ORPHA:438114RARS-related autosomal recessive hypomyelinating leukodystrophy
HP:0004305HP:0011448Ankle clonus2REEP1 CL E G H6505525786OMIM:610250Spastic paraplegia 31, autosomal dominant.87
HP:0004305HP:0002345Action tremor2REEP2 CL E G H5130817975ORPHA:401849Autosomal spastic paraplegia type 723
HP:0004305HP:0002345Action tremor2RFC1 CL E G H59819969ORPHA:504476Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome
HP:0004305HP:0002345Action tremor2RILPL1 CL E G H35311626814OMIM:619790OCULOPHARYNGODISTAL MYOPATHY 4; OPDM4
HP:0004305HP:0001308Tongue fasciculations2RMND1 CL E G H5500521176OMIM:614922Combined oxidative phosphorylation deficiency 11HP:0040283 - Occasional26
HP:0004305HP:0002345Action tremor2RNF113A CL E G H773712974ORPHA:33364Trichothiodystrophy3
HP:0004305HP:0002345Action tremor2RNU12 CL E G H26701019380ORPHA:512260Congenital cerebellar ataxia due to RNU12 mutation
HP:0004305HP:0025097Eyelid myoclonus2RORA CL E G H609510258OMIM:618060INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT EPILEPSY OR CEREBELLAR ATAXIA; IDDECA1
HP:0004305HP:0025097Eyelid myoclonus2RORB CL E G H609610259OMIM:618357Epilepsy, idiopathic generalized, susceptibility to, 15.3
HP:0004305HP:0001483Eye poking2RPE65 CL E G H612110294OMIM:204100Leber congenital amaurosis, type II.129
HP:0004305HP:0002322Resting tremor2RRM2B CL E G H5048417296ORPHA:254892Autosomal dominant progressive external ophthalmoplegiaHP:0040282 - Frequent125
HP:0004305HP:0011448Ankle clonus2RTN2 CL E G H625310468OMIM:604805Spastic paraplegia 12, autosomal dominant.25
HP:0004305HP:0011449Knee clonus2RTN2 CL E G H625310468OMIM:604805Spastic paraplegia 12, autosomal dominant.25
HP:0004305HP:0002345Action tremor2SACS CL E G H2627810519ORPHA:98Autosomal recessive spastic ataxia of Charlevoix-Saguenay309
HP:0004305HP:0030188Tremor by anatomical site2SAMD12 CL E G H40147431750ORPHA:86814Benign adult familial myoclonic epilepsy2
HP:0004305HP:0011448Ankle clonus2SAMD9L CL E G H2192851349OMIM:159550Ataxia-Pancytopenia syndrome.4
HP:0004305HP:0012171Stereotypical hand wringing2SATB1 CL E G H630410541OMIM:619229KOHLSCHUTTER-TONZ SYNDROME-LIKE; KTZSL
HP:0004305HP:0002345Action tremor2SCARB2 CL E G H9501665OMIM:254900Epilepsy, progressive myoclonic, 4, with or without renal failure.77
HP:0004305HP:0002345Action tremor2SCARB2 CL E G H9501665ORPHA:308Progressive myoclonic epilepsy type 177
HP:0004305HP:0007000Morning myoclonic jerks2SCARB2 CL E G H9501665ORPHA:308Progressive myoclonic epilepsy type 1HP:0040281 - Very frequent77
HP:0004305HP:0001266Choreoathetosis2SCN1A CL E G H632310585OMIM:619317DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 6B; DEE6B1053
HP:0004305HP:0002345Action tremor2SCN1A CL E G H632310585ORPHA:33069Dravet syndromeHP:0040283 - Occasional1053
HP:0004305HP:0001308Tongue fasciculations2SCN1A CL E G H632310585ORPHA:569Familial or sporadic hemiplegic migraineHP:0040282 - Frequent1053
HP:0004305HP:0002345Action tremor2SCN1B CL E G H632410586ORPHA:33069Dravet syndromeHP:0040283 - Occasional126
HP:0004305HP:0001266Choreoathetosis2SCN1B CL E G H632410586ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional126
HP:0004305HP:0045084Limb myoclonus2SCN2A CL E G H632610588ORPHA:306Benign familial infantile epilepsyHP:0040283 - Occasional427
HP:0004305HP:0002345Action tremor2SCN2A CL E G H632610588ORPHA:33069Dravet syndromeHP:0040283 - Occasional427
HP:0004305HP:0001266Choreoathetosis2SCN2A CL E G H632610588ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional427
HP:0004305HP:0045084Limb myoclonus2SCN8A CL E G H633410596ORPHA:306Benign familial infantile epilepsyHP:0040283 - Occasional357
HP:0004305HP:0001266Choreoathetosis2SCN8A CL E G H633410596ORPHA:31709Infantile convulsions and choreoathetosisHP:0040282 - Frequent357
HP:0004305HP:0045084Limb myoclonus2SCN8A CL E G H633410596OMIM:618364MYOCLONUS, FAMILIAL, 2; MYOCL2357
HP:0004305HP:0002345Action tremor2SCN9A CL E G H633510597ORPHA:33069Dravet syndromeHP:0040283 - Occasional318
HP:0004305HP:0002345Action tremor2SCP2 CL E G H634210606OMIM:613724Leukoencephalopathy with dystonia and motor neuropathy4
HP:0004305HP:0030188Tremor by anatomical site2SCP2 CL E G H634210606OMIM:613724Leukoencephalopathy with dystonia and motor neuropathy4
HP:0004305HP:0002345Action tremor2SCYL1 CL E G H5741014372ORPHA:466794Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome5
HP:0004305HP:0011448Ankle clonus2SELENOI CL E G H8546529361ORPHA:506353Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunctionHP:0040280 - Obligate
HP:0004305HP:0011448Ankle clonus2SELENOI CL E G H8546529361OMIM:618768SPASTIC PARAPLEGIA 81, AUTOSOMAL RECESSIVE; SPG81
HP:0004305HP:0002345Action tremor2SEMA6B CL E G H1050110739OMIM:618876EPILEPSY, PROGRESSIVE MYOCLONIC, 11; EPM11
HP:0004305HP:0001266Choreoathetosis2SEPSECS CL E G H5109130605ORPHA:2524Pontocerebellar hypoplasia type 2HP:0040281 - Very frequent66
HP:0004305HP:0001266Choreoathetosis2SETX CL E G H23064445ORPHA:64753Spinocerebellar ataxia with axonal neuropathy type 2HP:0040283 - Occasional162
HP:0004305HP:0002345Action tremor2SETX CL E G H23064445ORPHA:64753Spinocerebellar ataxia with axonal neuropathy type 2162
HP:0004305HP:0030188Tremor by anatomical site2SETX CL E G H23064445ORPHA:64753Spinocerebellar ataxia with axonal neuropathy type 2162
HP:0004305HP:0030188Tremor by anatomical site2SETX CL E G H23064445OMIM:606002Spinocerebellar ataxia, autosomal recessive 1162
HP:0004305HP:0010531Spinal myoclonus2SGCE CL E G H891010808ORPHA:36899Myoclonus-dystonia syndromeHP:0040281 - Very frequent49
HP:0004305HP:0045084Limb myoclonus2SGCE CL E G H891010808ORPHA:36899Myoclonus-dystonia syndromeHP:0040281 - Very frequent49
HP:0004305HP:0001266Choreoathetosis2SH2B1 CL E G H2597030417ORPHA:261197Proximal 16p11.2 microdeletion syndromeHP:0040283 - Occasional
HP:0004305HP:0001308Tongue fasciculations2SH3TC2 CL E G H7962829427ORPHA:99949Charcot-Marie-Tooth disease type 4CHP:0040283 - Occasional493
HP:0004305HP:0030188Tremor by anatomical site2SH3TC2 CL E G H7962829427ORPHA:99949Charcot-Marie-Tooth disease type 4C493
HP:0004305HP:0001308Tongue fasciculations2SH3TC2 CL E G H7962829427OMIM:601596Charcot-Marie-Tooth disease, type 4C.493
HP:0004305HP:0100703Tongue thrusting2SHANK3 CL E G H8535814294OMIM:606232Phelan-Mcdermid syndrome53
HP:0004305HP:0002345Action tremor2SIGMAR1 CL E G H102808157ORPHA:300605Juvenile amyotrophic lateral sclerosis6
HP:0004305HP:0030188Tremor by anatomical site2SIGMAR1 CL E G H102808157ORPHA:300605Juvenile amyotrophic lateral sclerosis6
HP:0004305HP:0001266Choreoathetosis2SIK1 CL E G H15009411142ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional11
HP:0004305HP:0030188Tremor by anatomical site2SLC12A6 CL E G H999010914OMIM:218000Agenesis of the corpus callosum with peripheral neuropathy163
HP:0004305HP:0001266Choreoathetosis2SLC16A2 CL E G H656710923ORPHA:59Allan-Herndon-Dudley syndromeHP:0040282 - Frequent57
HP:0004305HP:0011448Ankle clonus2SLC16A2 CL E G H656710923ORPHA:59Allan-Herndon-Dudley syndromeHP:0040283 - Occasional57
HP:0004305HP:0002345Action tremor2SLC19A3 CL E G H8070416266OMIM:607483Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2)110
HP:0004305HP:0001266Choreoathetosis2SLC1A3 CL E G H650710941ORPHA:2131Alternating hemiplegia of childhoodHP:0040283 - Occasional63
HP:0004305HP:0011448Ankle clonus2SLC1A4 CL E G H650910942OMIM:616657Spastic tetraplegia, thin corpus callosum, and progressive microcephaly4
HP:0004305HP:0003739Myoclonic spasms2SLC1A4 CL E G H650910942ORPHA:447997Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndromeHP:0040283 - Occasional4
HP:0004305HP:0001308Tongue fasciculations2SLC25A21 CL E G H8987414411OMIM:618811MITOCHONDRIAL DNA DEPLETION SYNDROME 18; MTDPS18
HP:0004305HP:0001266Choreoathetosis2SLC25A22 CL E G H7975119954ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional166
HP:0004305HP:0002322Resting tremor2SLC25A4 CL E G H29110990ORPHA:254892Autosomal dominant progressive external ophthalmoplegiaHP:0040282 - Frequent68
HP:0004305HP:0001266Choreoathetosis2SLC25A42 CL E G H28443928380OMIM:618416Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression.1
HP:0004305HP:0002345Action tremor2SLC25A46 CL E G H9113725198OMIM:616505Neuropathy, hereditary motor and sensory, type VIB14
HP:0004305HP:0001308Tongue fasciculations2SLC25A46 CL E G H9113725198ORPHA:2254Pontocerebellar hypoplasia type 114
HP:0004305HP:0045084Limb myoclonus2SLC2A1 CL E G H651311005ORPHA:64280Childhood absence epilepsyHP:0040284 - Very rare255
HP:0004305HP:0030218Punding2SLC2A1 CL E G H651311005ORPHA:64280Childhood absence epilepsyHP:0040283 - Occasional255
HP:0004305HP:0001266Choreoathetosis2SLC2A1 CL E G H651311005ORPHA:71277Classic glucose transporter type 1 deficiency syndromeHP:0040282 - Frequent255
HP:0004305HP:0001266Choreoathetosis2SLC2A1 CL E G H651311005OMIM:601042Dystonia 9.255
HP:0004305HP:0001266Choreoathetosis2SLC2A1 CL E G H651311005OMIM:606777Glut1 deficiency syndrome 1.255
HP:0004305HP:0001266Choreoathetosis2SLC2A1 CL E G H651311005OMIM:612126Glut1 deficiency syndrome 2.255
HP:0004305HP:0001266Choreoathetosis2SLC2A1 CL E G H651311005ORPHA:53583Paroxysmal dystonic choreathetosis with episodic ataxia and spasticityHP:0040282 - Frequent255
HP:0004305HP:0001266Choreoathetosis2SLC2A1 CL E G H651311005ORPHA:98811Paroxysmal exertion-induced dyskinesiaHP:0040281 - Very frequent255
HP:0004305HP:0002345Action tremor2SLC30A10 CL E G H5553225355ORPHA:309854Cirrhosis-dystonia-polycythemia-hypermanganesemia syndromeHP:0040282 - Frequent42
HP:0004305HP:0001266Choreoathetosis2SLC30A9 CL E G H104631329OMIM:617595Birk-Landau-Perez syndrome.1
HP:0004305HP:0011448Ankle clonus2SLC39A14 CL E G H2351620858ORPHA:521406Dystonia-parkinsonism-hypermanganesemia syndromeHP:0040282 - Frequent5
HP:0004305HP:0011448Ankle clonus2SLC39A14 CL E G H2351620858OMIM:617013Hypermanganesemia with dystonia 2.5
HP:0004305HP:0001308Tongue fasciculations2SLC52A2 CL E G H7958130224OMIM:614707Brown-Vialetto-Van laere syndrome 2.47
HP:0004305HP:0001308Tongue fasciculations2SLC52A3 CL E G H11327816187OMIM:211530Brown-Vialetto-Van laere syndrome 1.51
HP:0004305HP:0011448Ankle clonus2SLC52A3 CL E G H11327816187OMIM:211530Brown-Vialetto-Van laere syndrome 1.51
HP:0004305HP:0011449Knee clonus2SLC52A3 CL E G H11327816187OMIM:211530Brown-Vialetto-Van laere syndrome 1.51
HP:0004305HP:0025097Eyelid myoclonus2SLC6A1 CL E G H652911042OMIM:616421Myoclonic-Atonic epilepsy.29
HP:0004305HP:0002345Action tremor2SLC6A17 CL E G H38866231399OMIM:616269Mental retardation, autosomal recessive 4812
HP:0004305HP:0030188Tremor by anatomical site2SLC6A17 CL E G H38866231399ORPHA:457212Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome12
HP:0004305HP:0002345Action tremor2SLC9A1 CL E G H654811071OMIM:616291Lichtenstein-Knorr syndrome.2
HP:0004305HP:0100035Phonic tics2SLITRK1 CL E G H11479820297OMIM:137580Gilles de la tourette syndrome.58
HP:0004305HP:0100034Motor tics2SLITRK1 CL E G H11479820297OMIM:137580Gilles de la tourette syndrome.58
HP:0004305HP:0003739Myoclonic spasms2SMARCB1 CL E G H659811103ORPHA:2495Meningioma87
HP:0004305HP:0003739Myoclonic spasms2SMARCE1 CL E G H660511109ORPHA:2495Meningioma47
HP:0004305HP:0002322Resting tremor2SMC1A CL E G H824311111ORPHA:3095Atypical Rett syndrome135
HP:0004305HP:0100703Tongue thrusting2SMC1A CL E G H824311111ORPHA:3095Atypical Rett syndromeHP:0040282 - Frequent135
HP:0004305HP:0012171Stereotypical hand wringing2SMC1A CL E G H824311111ORPHA:3095Atypical Rett syndromeHP:0040281 - Very frequent135
HP:0004305HP:0045084Limb myoclonus2SMC1A CL E G H824311111ORPHA:3095Atypical Rett syndromeHP:0040282 - Frequent135
HP:0004305HP:0002345Action tremor2SMG9 CL E G H5600625763OMIM:6199952
HP:0004305HP:0011448Ankle clonus2SMG9 CL E G H5600625763OMIM:6199952
HP:0004305HP:0001308Tongue fasciculations2SMN1 CL E G H660611117OMIM:253300Spinal muscular atrophy, type I.22
HP:0004305HP:0001308Tongue fasciculations2SMN1 CL E G H660611117OMIM:253550Spinal muscular atrophy, type II.22
HP:0004305HP:0030188Tremor by anatomical site2SMN1 CL E G H660611117OMIM:253550Spinal muscular atrophy, type II22
HP:0004305HP:0001308Tongue fasciculations2SMN1 CL E G H660611117OMIM:253400Spinal muscular atrophy, type III.22
HP:0004305HP:0007289Limb fasciculations2SMN1 CL E G H660611117OMIM:253400Spinal muscular atrophy, type III.22
HP:0004305HP:0030188Tremor by anatomical site2SMN1 CL E G H660611117OMIM:253400Spinal muscular atrophy, type III22
HP:0004305HP:0001308Tongue fasciculations2SMN1 CL E G H660611117OMIM:271150Spinal muscular atrophy, type IV.22
HP:0004305HP:0030188Tremor by anatomical site2SMN1 CL E G H660611117OMIM:271150Spinal muscular atrophy, type IV22
HP:0004305HP:0001308Tongue fasciculations2SMN2 CL E G H660711118OMIM:253400Spinal muscular atrophy, type III.1
HP:0004305HP:0007289Limb fasciculations2SMN2 CL E G H660711118OMIM:253400Spinal muscular atrophy, type III.1
HP:0004305HP:0030188Tremor by anatomical site2SMN2 CL E G H660711118OMIM:253400Spinal muscular atrophy, type III1
HP:0004305HP:0003739Myoclonic spasms2SMO CL E G H660811119ORPHA:2495Meningioma22
HP:0004305HP:0002322Resting tremor2SNCA CL E G H662211138ORPHA:411602Hereditary late-onset Parkinson diseaseHP:0040282 - Frequent65
HP:0004305HP:0002322Resting tremor2SNCA CL E G H662211138OMIM:168601Parkinson disease 1, autosomal dominant.65
HP:0004305HP:0002345Action tremor2SNCA CL E G H662211138ORPHA:171695Parkinsonian-pyramidal syndrome65
HP:0004305HP:0002322Resting tremor2SNCAIP CL E G H962711139OMIM:168600Parkinson disease, late-onset.35
HP:0004305HP:0030188Tremor by anatomical site2SNRPN CL E G H663811164OMIM:105830Angelman syndrome37
HP:0004305HP:0011448Ankle clonus2SOD1 CL E G H664711179OMIM:618598SPASTIC TETRAPLEGIA AND AXIAL HYPOTONIA, PROGRESSIVE; STAHP53
HP:0004305HP:0011448Ankle clonus2SPART CL E G H2311118514ORPHA:101000Autosomal recessive spastic paraplegia type 20HP:0040283 - Occasional66
HP:0004305HP:0011448Ankle clonus2SPART CL E G H2311118514OMIM:275900Spastic paraplegia 20, autosomal recessive.66
HP:0004305HP:0011449Knee clonus2SPART CL E G H2311118514OMIM:275900Spastic paraplegia 20, autosomal recessive.66
HP:0004305HP:0011448Ankle clonus2SPAST CL E G H668311233ORPHA:100985Autosomal dominant spastic paraplegia type 4HP:0040282 - Frequent208
HP:0004305HP:0002345Action tremor2SPG11 CL E G H8020811226ORPHA:300605Juvenile amyotrophic lateral sclerosis287
HP:0004305HP:0030188Tremor by anatomical site2SPG11 CL E G H8020811226ORPHA:300605Juvenile amyotrophic lateral sclerosis287
HP:0004305HP:0011448Ankle clonus2SPG11 CL E G H8020811226OMIM:604360Spastic paraplegia 11, autosomal recessive.287
HP:0004305HP:0011449Knee clonus2SPG11 CL E G H8020811226OMIM:604360Spastic paraplegia 11, autosomal recessive.287
HP:0004305HP:0001266Choreoathetosis2SPR CL E G H669711257OMIM:612716Dystonia, dopa-responsive, due to sepiapterin reductase deficiency.28
HP:0004305HP:0002345Action tremor2SPTBN1 CL E G H671111275OMIM:619475DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0004305HP:0008762Repetitive compulsive behavior2SPTBN1 CL E G H671111275OMIM:619475DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0004305HP:0030188Tremor by anatomical site2SPTBN1 CL E G H671111275OMIM:619475DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0004305HP:0002345Action tremor2SPTBN2 CL E G H671211276ORPHA:352403Spectrin-associated autosomal recessive cerebellar ataxia126
HP:0004305HP:0002345Action tremor2SPTBN2 CL E G H671211276OMIM:600224Spinocerebellar ataxia 5126
HP:0004305HP:0002345Action tremor2SPTBN2 CL E G H671211276OMIM:615386Spinocerebellar ataxia, autosomal recessive 14126
HP:0004305HP:0001266Choreoathetosis2SPTBN4 CL E G H5773114896OMIM:617519Neurodevelopmental disorder with hypotonia, neuropathy, and deafness3
HP:0004305HP:0002345Action tremor2SPTLC1 CL E G H1055811277ORPHA:300605Juvenile amyotrophic lateral sclerosis54
HP:0004305HP:0030188Tremor by anatomical site2SPTLC1 CL E G H1055811277ORPHA:300605Juvenile amyotrophic lateral sclerosis54
HP:0004305HP:0001308Tongue fasciculations2SPTLC1 CL E G H1055811277OMIM:162400Neuropathy, hereditary sensory and autonomic, type IA54
HP:0004305HP:0030188Tremor by anatomical site2SPTLC1 CL E G H1055811277OMIM:162400Neuropathy, hereditary sensory and autonomic, type IA54
HP:0004305HP:0001266Choreoathetosis2ST3GAL5 CL E G H886910872OMIM:609056Salt and pepper developmental regression syndrome.47
HP:0004305HP:0002345Action tremor2STUB1 CL E G H1027311427ORPHA:412057Autosomal recessive cerebellar ataxia due to STUB1 deficiency14
HP:0004305HP:0011448Ankle clonus2STUB1 CL E G H1027311427ORPHA:412057Autosomal recessive cerebellar ataxia due to STUB1 deficiencyHP:0040283 - Occasional14
HP:0004305HP:0030188Tremor by anatomical site2STUB1 CL E G H1027311427ORPHA:412057Autosomal recessive cerebellar ataxia due to STUB1 deficiency14
HP:0004305HP:0011448Ankle clonus2STUB1 CL E G H1027311427OMIM:615768Spinocerebellar ataxia, autosomal recessive 16HP:0040283 - Occasional14
HP:0004305HP:0003739Myoclonic spasms2STX16 CL E G H867511431ORPHA:94089Pseudohypoparathyroidism type 1BHP:0040283 - Occasional86
HP:0004305HP:0001266Choreoathetosis2STXBP1 CL E G H681211444OMIM:612164Epileptic encephalopathy, early infantile, 4237
HP:0004305HP:0001266Choreoathetosis2SUCLG1 CL E G H880211449ORPHA:17Fatal infantile lactic acidosis with methylmalonic aciduriaHP:0040283 - Occasional60
HP:0004305HP:0003739Myoclonic spasms2SUFU CL E G H5168416466ORPHA:2495Meningioma124
HP:0004305HP:0001266Choreoathetosis2SUOX CL E G H682111460OMIM:272300SULFOCYSTEINURIA.40
HP:0004305HP:0011448Ankle clonus2SYNE1 CL E G H2334517089ORPHA:88644Autosomal recessive ataxia, Beauce typeHP:0040283 - Occasional1129
HP:0004305HP:0100023Recurrent hand flapping2SYNGAP1 CL E G H883111497ORPHA:544254SYNGAP1-related developmental and epileptic encephalopathyHP:0040283 - Occasional108
HP:0004305HP:0002322Resting tremor2SYNJ1 CL E G H886711503ORPHA:391411Atypical juvenile parkinsonismHP:0040281 - Very frequent9
HP:0004305HP:0001266Choreoathetosis2SYT1 CL E G H685711509OMIM:618218Baker-Gordon syndrome.1
HP:0004305HP:0001266Choreoathetosis2SYT1 CL E G H685711509ORPHA:522077Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndromeHP:0040283 - Occasional1
HP:0004305HP:0008762Repetitive compulsive behavior2SYT1 CL E G H685711509ORPHA:522077Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndromeHP:0040282 - Frequent1
HP:0004305HP:0001308Tongue fasciculations2SYT2 CL E G H12783311510OMIM:619461MYASTHENIC SYNDROME, CONGENITAL, 7B, PRESYNAPTIC, AUTOSOMAL RECESSIVE; CMS7B4
HP:0004305HP:0002322Resting tremor2TAF1 CL E G H687211535ORPHA:53351X-linked dystonia-parkinsonismHP:0040282 - Frequent21
HP:0004305HP:0030188Tremor by anatomical site2TAF1 CL E G H687211535ORPHA:53351X-linked dystonia-parkinsonism21
HP:0004305HP:0002345Action tremor2TARS1 CL E G H689711572ORPHA:33364Trichothiodystrophy
HP:0004305HP:0030188Tremor by anatomical site2TBC1D24 CL E G H5746529203OMIM:608105Epilepsy, rolandic, with paroxysmal exercise-induced dystonia and writer's cramp271
HP:0004305HP:0045084Limb myoclonus2TBC1D24 CL E G H5746529203ORPHA:352582Familial infantile myoclonic epilepsyHP:0040283 - Occasional271
HP:0004305HP:0001308Tongue fasciculations2TBCD CL E G H690411581OMIM:617193ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM; PEBAT16
HP:0004305HP:0002322Resting tremor2TBP CL E G H690811588OMIM:168600Parkinson disease, late-onset.7
HP:0004305HP:0002345Action tremor2TBP CL E G H690811588OMIM:607136Spinocerebellar ataxia 177
HP:0004305HP:0002345Action tremor2TECR CL E G H95244551OMIM:614020Mental retardation, autosomal recessive 1417
HP:0004305HP:0002345Action tremor2TENM4 CL E G H2601129945OMIM:616736Tremor, hereditary essential, 55
HP:0004305HP:0030188Tremor by anatomical site2TENM4 CL E G H2601129945OMIM:616736Tremor, hereditary essential, 55
HP:0004305HP:0003739Myoclonic spasms2TERT CL E G H701511730ORPHA:2495Meningioma238
HP:0004305HP:0007289Limb fasciculations2TFG CL E G H1034211758ORPHA:90117Hereditary motor and sensory neuropathy, Okinawa typeHP:0040282 - Frequent18
HP:0004305HP:0030188Tremor by anatomical site2TFG CL E G H1034211758OMIM:604484Neuropathy, hereditary motor and sensory, Okinawa type18
HP:0004305HP:0002345Action tremor2TGM6 CL E G H34364116255OMIM:613908Spinocerebellar ataxia 3558
HP:0004305HP:0002345Action tremor2TGM6 CL E G H34364116255ORPHA:276193Spinocerebellar ataxia type 3558
HP:0004305HP:0002345Action tremor2TH CL E G H705411782ORPHA:101150Autosomal recessive dopa-responsive dystonia80
HP:0004305HP:0002345Action tremor2THG1L CL E G H5497426053OMIM:618800SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 28; SCAR28
HP:0004305HP:0001266Choreoathetosis2TIMM50 CL E G H9260923656OMIM:6176983-methylglutaconic aciduria, type IX1
HP:0004305HP:0011448Ankle clonus2TIMM8A CL E G H167811817ORPHA:52368Mohr-Tranebjaerg syndromeHP:0040282 - Frequent15
HP:0004305HP:0002345Action tremor2TK2 CL E G H708411831ORPHA:254886Autosomal recessive progressive external ophthalmoplegiaHP:0040283 - Occasional103
HP:0004305HP:0002345Action tremor2TMCO1 CL E G H5449918188OMIM:213980Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome6
HP:0004305HP:0001266Choreoathetosis2TMEM106B CL E G H5466422407OMIM:617964Leukodystrophy, hypomyelinating, 16
HP:0004305HP:0002345Action tremor2TMEM106B CL E G H5466422407OMIM:617964Leukodystrophy, hypomyelinating, 16
HP:0004305HP:0002345Action tremor2TMEM240 CL E G H33945325186OMIM:607454Spinocerebellar ataxia 219
HP:0004305HP:0002345Action tremor2TMEM63A CL E G H972529118OMIM:618688LEUKODYSTROPHY, HYPOMYELINATING, 19, TRANSIENT INFANTILE; HLD19
HP:0004305HP:0030188Tremor by anatomical site2TMEM63A CL E G H972529118OMIM:618688LEUKODYSTROPHY, HYPOMYELINATING, 19, TRANSIENT INFANTILE; HLD19
HP:0004305HP:0002345Action tremor2TMEM70 CL E G H5496826050OMIM:614052Mitochondrial complex V (atp synthase) deficiency, nuclear type 263
HP:0004305HP:0001266Choreoathetosis2TNR CL E G H714311953OMIM:619653NEURODEVELOPMENTAL DISORDER, NONPROGRESSIVE, WITH SPASTICITY AND TRANSIENT OPISTHOTONUS; NEDSTO7
HP:0004305HP:0040148Cortical myoclonus2TNRC6A CL E G H2732711969OMIM:618074EPILEPSY, FAMILIAL ADULT MYOCLONIC, 6; FAME6
HP:0004305HP:0001266Choreoathetosis2TOE1 CL E G H11403415954OMIM:614969Pontocerebellar hypoplasia, type 76
HP:0004305HP:0001308Tongue fasciculations2TOE1 CL E G H11403415954OMIM:614969Pontocerebellar hypoplasia, type 76
HP:0004305HP:0030188Tremor by anatomical site2TOR1A CL E G H18613098OMIM:618947ARTHROGRYPOSIS MULTIPLEX CONGENITA 5; AMC547
HP:0004305HP:0010531Spinal myoclonus2TOR1A CL E G H18613098ORPHA:36899Myoclonus-dystonia syndromeHP:0040281 - Very frequent47
HP:0004305HP:0045084Limb myoclonus2TOR1A CL E G H18613098ORPHA:36899Myoclonus-dystonia syndromeHP:0040281 - Very frequent47
HP:0004305HP:0002345Action tremor2TPK1 CL E G H2701017358OMIM:614458Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type)21
HP:0004305HP:0002345Action tremor2TPP1 CL E G H12002073ORPHA:284324Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia203
HP:0004305HP:0002345Action tremor2TPP1 CL E G H12002073OMIM:609270Spinocerebellar ataxia, autosomal recessive 7203
HP:0004305HP:0003739Myoclonic spasms2TRAF7 CL E G H8423120456ORPHA:2495Meningioma
HP:0004305HP:0100023Recurrent hand flapping2TRAPPC6B CL E G H12255323066OMIM:617862Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy
HP:0004305HP:0030188Tremor by anatomical site2TRAPPC6B CL E G H12255323066OMIM:617862Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy
HP:0004305HP:0100023Recurrent hand flapping2TRAPPC9 CL E G H8369630832OMIM:613192Mental retardation, autosomal recessive 13158
HP:0004305HP:0001266Choreoathetosis2TRIM8 CL E G H8160315579ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional1
HP:0004305HP:0030188Tremor by anatomical site2TRIM8 CL E G H8160315579OMIM:619428FOCAL SEGMENTAL GLOMERULOSCLEROSIS AND NEURODEVELOPMENTAL SYNDROME; FSGSNEDS1
HP:0004305HP:0002322Resting tremor2TRNT CL E G H45767499OMIM:168600Parkinson disease, late-onset.
HP:0004305HP:0008762Repetitive compulsive behavior2TSC1 CL E G H724812362ORPHA:805Tuberous sclerosis complexHP:0040282 - Frequent1090
HP:0004305HP:0008762Repetitive compulsive behavior2TSC2 CL E G H724912363ORPHA:805Tuberous sclerosis complexHP:0040282 - Frequent2738
HP:0004305HP:0001266Choreoathetosis2TSEN15 CL E G H11646116791ORPHA:2524Pontocerebellar hypoplasia type 2HP:0040281 - Very frequent3
HP:0004305HP:0001266Choreoathetosis2TSEN2 CL E G H8074628422ORPHA:2524Pontocerebellar hypoplasia type 2HP:0040281 - Very frequent84
HP:0004305HP:0001266Choreoathetosis2TSEN34 CL E G H7904215506ORPHA:2524Pontocerebellar hypoplasia type 2HP:0040281 - Very frequent57
HP:0004305HP:0001266Choreoathetosis2TSEN54 CL E G H28398927561ORPHA:2524Pontocerebellar hypoplasia type 2HP:0040281 - Very frequent102
HP:0004305HP:0030188Tremor by anatomical site2TSHR CL E G H725312373ORPHA:99819Familial gestational hyperthyroidism97
HP:0004305HP:0030188Tremor by anatomical site2TSHR CL E G H725312373ORPHA:424Familial hyperthyroidism due to mutations in TSH receptor97
HP:0004305HP:0002345Action tremor2TSPOAP1 CL E G H925616831ORPHA:101150Autosomal recessive dopa-responsive dystonia2
HP:0004305HP:0001308Tongue fasciculations2TSPYL1 CL E G H725912382OMIM:608800Sudden infant death with dysgenesis of the testes syndrome.1
HP:0004305HP:0001266Choreoathetosis2TUBB4A CL E G H1038220774OMIM:612438Leukodystrophy, hypomyelinating, 6.66
HP:0004305HP:0002345Action tremor2TUBB4A CL E G H1038220774ORPHA:98805Primary dystonia, DYT4 type66
HP:0004305HP:0030188Tremor by anatomical site2TUBB4A CL E G H1038220774ORPHA:98805Primary dystonia, DYT4 type66
HP:0004305HP:0002322Resting tremor2TWNK CL E G H566521160ORPHA:254892Autosomal dominant progressive external ophthalmoplegiaHP:0040282 - Frequent113
HP:0004305HP:0003739Myoclonic spasms2TXN2 CL E G H2582817772ORPHA:478029Combined oxidative phosphorylation defect type 29HP:0040281 - Very frequent1
HP:0004305HP:0001308Tongue fasciculations2UBA1 CL E G H731712469ORPHA:1145Infantile-onset X-linked spinal muscular atrophyHP:0040283 - Occasional35
HP:0004305HP:0001308Tongue fasciculations2UBA1 CL E G H731712469OMIM:301830Spinal muscular atrophy, X-linked 2.35
HP:0004305HP:0030188Tremor by anatomical site2UBE3A CL E G H733712496OMIM:105830Angelman syndrome278
HP:0004305HP:0100023Recurrent hand flapping2UBE3A CL E G H733712496ORPHA:411511Angelman syndrome due to a point mutationHP:0040283 - Occasional278
HP:0004305HP:0100703Tongue thrusting2UBE3A CL E G H733712496ORPHA:411511Angelman syndrome due to a point mutationHP:0040283 - Occasional278
HP:0004305HP:0100023Recurrent hand flapping2UBE3A CL E G H733712496ORPHA:98794Angelman syndrome due to maternal 15q11q13 deletionHP:0040283 - Occasional278
HP:0004305HP:0100703Tongue thrusting2UBE3A CL E G H733712496ORPHA:98794Angelman syndrome due to maternal 15q11q13 deletionHP:0040282 - Frequent278
HP:0004305HP:0100703Tongue thrusting2UBE3A CL E G H733712496ORPHA:98795Angelman syndrome due to paternal uniparental disomy of chromosome 15HP:0040282 - Frequent278
HP:0004305HP:0002345Action tremor2UCHL1 CL E G H734512513OMIM:615491Spastic paraplegia 79, autosomal recessive21
HP:0004305HP:0011448Ankle clonus2UCHL1 CL E G H734512513OMIM:615491Spastic paraplegia 79, autosomal recessive.21
HP:0004305HP:0030188Tremor by anatomical site2UCHL1 CL E G H734512513OMIM:615491Spastic paraplegia 79, autosomal recessive21
HP:0004305HP:0002345Action tremor2UFC1 CL E G H5150626941OMIM:618076Neurodevelopmental disorder with spasticity and poor growth
HP:0004305HP:0002322Resting tremor2UQCRC1 CL E G H738412585OMIM:619279PARKINSONISM WITH POLYNEUROPATHY; PKNPY
HP:0004305HP:0002345Action tremor2UROC1 CL E G H13166926444OMIM:276880Urocanase deficiency8
HP:0004305HP:0002345Action tremor2UROC1 CL E G H13166926444ORPHA:210128Urocanic aciduriaHP:0040281 - Very frequent8
HP:0004305HP:0012171Stereotypical hand wringing2VAMP2 CL E G H684412643OMIM:618760NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND AUTISTIC FEATURES WITH OR WITHOUT HYPERKINETIC MOVEMENTS; NEDHAHM
HP:0004305HP:0002345Action tremor2VAPB CL E G H921712649OMIM:608627Amyotrophic lateral sclerosis 8116
HP:0004305HP:0011448Ankle clonus2VCP CL E G H741512666OMIM:613954Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia63
HP:0004305HP:0001308Tongue fasciculations2VCP CL E G H741512666ORPHA:329475Spastic paraplegia-Paget disease of bone syndromeHP:0040282 - Frequent63
HP:0004305HP:0007289Limb fasciculations2VCP CL E G H741512666ORPHA:329475Spastic paraplegia-Paget disease of bone syndromeHP:0040282 - Frequent63
HP:0004305HP:0002345Action tremor2VLDLR CL E G H743612698OMIM:224050Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1111
HP:0004305HP:0001266Choreoathetosis2VPS13A CL E G H232301908OMIM:200150CHOREOACANTHOCYTOSIS130
HP:0004305HP:0100035Phonic tics2VPS13A CL E G H232301908ORPHA:2388ChoreoacanthocytosisHP:0040282 - Frequent130
HP:0004305HP:0100034Motor tics2VPS13A CL E G H232301908ORPHA:2388ChoreoacanthocytosisHP:0040282 - Frequent130
HP:0004305HP:0002322Resting tremor2VPS13A CL E G H232301908ORPHA:2388ChoreoacanthocytosisHP:0040283 - Occasional130
HP:0004305HP:0002345Action tremor2VPS13A CL E G H232301908ORPHA:2388Choreoacanthocytosis130
HP:0004305HP:0030188Tremor by anatomical site2VPS13A CL E G H232301908ORPHA:2388Choreoacanthocytosis130
HP:0004305HP:0002322Resting tremor2VPS13C CL E G H5483223594OMIM:616840Parkinson disease 23, autosomal recessive early-onset8
HP:0004305HP:0002322Resting tremor2VPS35 CL E G H5573713487ORPHA:411602Hereditary late-onset Parkinson diseaseHP:0040282 - Frequent37
HP:0004305HP:0002322Resting tremor2VPS35 CL E G H5573713487OMIM:614203Parkinson disease 17.37
HP:0004305HP:0001308Tongue fasciculations2VRK1 CL E G H744312718ORPHA:2254Pontocerebellar hypoplasia type 132
HP:0004305HP:0001308Tongue fasciculations2VRK1 CL E G H744312718OMIM:607596Pontocerebellar hypoplasia type 1A32
HP:0004305HP:0030188Tremor by anatomical site2VRK1 CL E G H744312718OMIM:607596Pontocerebellar hypoplasia type 1A32
HP:0004305HP:0001308Tongue fasciculations2VWA1 CL E G H6485630910OMIM:619216NEUROPATHY, HEREDITARY MOTOR, WITH MYOPATHIC FEATURES; HMNMYO
HP:0004305HP:0002345Action tremor2VWA3B CL E G H20040328385OMIM:616948Spinocerebellar ataxia, autosomal recessive 221
HP:0004305HP:0002345Action tremor2WARS2 CL E G H1035212730OMIM:619738PARKINSONISM-DYSTONIA 3, CHILDHOOD-ONSET; PKDYS32
HP:0004305HP:0008762Repetitive compulsive behavior2WDR26 CL E G H8023221208ORPHA:513456Intellectual disability-seizures-abnormal gait-facial dysmorphism syndromeHP:0040283 - Occasional8
HP:0004305HP:0012172Stereotypical body rocking2WDR26 CL E G H8023221208ORPHA:513456Intellectual disability-seizures-abnormal gait-facial dysmorphism syndromeHP:0040283 - Occasional8
HP:0004305HP:0001266Choreoathetosis2XPA CL E G H750712814OMIM:278700Xeroderma pigmentosum, complementation group A.34
HP:0004305HP:0002345Action tremor2XPNPEP3 CL E G H6392928052OMIM:613159Nephronophthisis-Like nephropathy 1109
HP:0004305HP:0001266Choreoathetosis2XPR1 CL E G H921312827OMIM:616413Basal ganglia calcification, idiopathic, 6.4
HP:0004305HP:0030188Tremor by anatomical site2YEATS2 CL E G H5568925489ORPHA:86814Benign adult familial myoclonic epilepsy1
HP:0004305HP:0002345Action tremor2YWHAG CL E G H753212852OMIM:617665Epileptic encephalopathy, early infantile, 56
HP:0004305HP:0012171Stereotypical hand wringing2ZBTB18 CL E G H1047213030OMIM:612337Mental retardation, autosomal dominant 2216
HP:0004305HP:0030188Tremor by anatomical site2ZFR CL E G H5166317277ORPHA:401840Autosomal recessive spastic paraplegia type 711
HP:0004305HP:0030188Tremor by anatomical site2ZFYVE26 CL E G H2350320761ORPHA:100996Autosomal recessive spastic paraplegia type 15189
HP:0004305HP:0011448Ankle clonus2ZFYVE27 CL E G H11881326559OMIM:610244Spastic paraplegia 33, autosomal dominant.52
HP:0004305HP:0032006Lip tremor3 CL E G H
HP:0004305HP:0032507Labiomental fasciculations3 CL E G H
HP:0004305HP:0002346Head tremor3AARS1 CL E G H1620OMIM:619691TRICHOTHIODYSTROPHY 8, NONPHOTOSENSITIVE; TTD8
HP:0004305HP:0030187Titubation3AARS1 CL E G H1620OMIM:619691TRICHOTHIODYSTROPHY 8, NONPHOTOSENSITIVE; TTD8
HP:0004305HP:0002378Hand tremor3ABCB6 CL E G H1005847OMIM:609153Pseudohyperkalemia, familial, 2, due to red cell leak20
HP:0004305HP:0030186Kinetic tremor3ABCB7 CL E G H2248OMIM:301310Anemia, sideroblastic, and spinocerebellar ataxia35
HP:0004305HP:0030186Kinetic tremor3ABHD12 CL E G H2609015868OMIM:612674Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract50
HP:0004305HP:0030187Titubation3ACBD5 CL E G H9145223338OMIM:618863RETINAL DYSTROPHY WITH LEUKODYSTROPHY; RDLKD1
HP:0004305HP:0030186Kinetic tremor3ADPRS CL E G H5493621304OMIM:618170Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures
HP:0004305HP:0002378Hand tremor3ADRA2B CL E G H151282ORPHA:86814Benign adult familial myoclonic epilepsyHP:0040281 - Very frequent3
HP:0004305HP:0002346Head tremor3AFG3L2 CL E G H10939315ORPHA:101109Spinocerebellar ataxia type 28HP:0040284 - Very rare86
HP:0004305HP:0030186Kinetic tremor3AFG3L2 CL E G H10939315ORPHA:101109Spinocerebellar ataxia type 28HP:0040283 - Occasional86
HP:0004305HP:0030186Kinetic tremor3AKT1 CL E G H207391OMIM:615109Cowden syndrome 654
HP:0004305HP:0010828Hemifacial spasm3AKT1 CL E G H207391ORPHA:2495MeningiomaHP:0040284 - Very rare54
HP:0004305HP:0002174Postural tremor3ALDH18A1 CL E G H58329722ORPHA:447757Autosomal dominant spastic paraplegia type 9BHP:0040282 - Frequent89
HP:0004305HP:0002174Postural tremor3ALDH18A1 CL E G H58329722ORPHA:447760Autosomal recessive spastic paraplegia type 9BHP:0040282 - Frequent89
HP:0004305HP:0002346Head tremor3ALS2 CL E G H57679443OMIM:205100Amyotrophic lateral sclerosis 2, juvenile114
HP:0004305HP:0030187Titubation3ALS2 CL E G H57679443OMIM:205100Amyotrophic lateral sclerosis 2, juvenile114
HP:0004305HP:0002346Head tremor3ALS2 CL E G H57679443ORPHA:300605Juvenile amyotrophic lateral sclerosis114
HP:0004305HP:0030187Titubation3ALS2 CL E G H57679443ORPHA:300605Juvenile amyotrophic lateral sclerosis114
HP:0004305HP:0030186Kinetic tremor3AMACR CL E G H23600451OMIM:614307Alpha-methylacyl-CoA racemase deficiency44
HP:0004305HP:0030186Kinetic tremor3ANO10 CL E G H5512925519ORPHA:284289Adult-onset autosomal recessive cerebellar ataxia64
HP:0004305HP:0030186Kinetic tremor3ANO10 CL E G H5512925519OMIM:613728Spinocerebellar ataxia, autosomal recessive 1064
HP:0004305HP:0002174Postural tremor3ANO3 CL E G H6398214004ORPHA:420485Cranio-cervical dystonia with laryngeal and upper-limb involvement17
HP:0004305HP:0002378Hand tremor3ANO3 CL E G H6398214004ORPHA:420485Cranio-cervical dystonia with laryngeal and upper-limb involvementHP:0040283 - Occasional17
HP:0004305HP:0200085Limb tremor3ANO3 CL E G H6398214004ORPHA:420485Cranio-cervical dystonia with laryngeal and upper-limb involvement17
HP:0004305HP:0012477Vocal tremor3ANO3 CL E G H6398214004ORPHA:420485Cranio-cervical dystonia with laryngeal and upper-limb involvementHP:0040282 - Frequent17
HP:0004305HP:0002346Head tremor3ANO3 CL E G H6398214004OMIM:615034Dystonia 2417
HP:0004305HP:0200085Limb tremor3ANO3 CL E G H6398214004OMIM:615034Dystonia 2417
HP:0004305HP:0030186Kinetic tremor3ARSA CL E G H410713ORPHA:309271Metachromatic leukodystrophy, adult form253
HP:0004305HP:0030186Kinetic tremor3ARSA CL E G H410713ORPHA:309263Metachromatic leukodystrophy, juvenile form253
HP:0004305HP:0030186Kinetic tremor3ATCAY CL E G H85300779ORPHA:94122Cerebellar ataxia, Cayman type72
HP:0004305HP:0030186Kinetic tremor3ATCAY CL E G H85300779OMIM:601238Cerebellar ataxia, Cayman type72
HP:0004305HP:0030186Kinetic tremor3ATM CL E G H472795OMIM:208900ATAXIA-TELANGIECTASIA3267
HP:0004305HP:0002174Postural tremor3ATP13A2 CL E G H2340030213ORPHA:314632ATP13A2-related juvenile neuronal ceroid lipofuscinosisHP:0040284 - Very rare100
HP:0004305HP:0030186Kinetic tremor3ATP2B3 CL E G H492816OMIM:302500Spinocerebellar ataxia, X-linked 119
HP:0004305HP:0030186Kinetic tremor3ATP2B3 CL E G H492816ORPHA:314978X-linked non progressive cerebellar ataxia19
HP:0004305HP:0002174Postural tremor3ATP6 CL E G H45087414ORPHA:104Leber hereditary optic neuropathyHP:0040283 - Occasional
HP:0004305HP:0002174Postural tremor3ATP6 CL E G H45087414OMIM:535000Leber optic atrophy.
HP:0004305HP:0002378Hand tremor3ATP7B CL E G H540870OMIM:277900Wilson disease315
HP:0004305HP:0002174Postural tremor3ATXN1 CL E G H631010548ORPHA:98755Spinocerebellar ataxia type 1HP:0040283 - Occasional19
HP:0004305HP:0030186Kinetic tremor3ATXN10 CL E G H2581410549ORPHA:98761Spinocerebellar ataxia type 10HP:0040282 - Frequent9
HP:0004305HP:0002174Postural tremor3ATXN2 CL E G H631110555OMIM:183090Spinocerebellar ataxia 2.11
HP:0004305HP:0002174Postural tremor3ATXN2 CL E G H631110555ORPHA:98756Spinocerebellar ataxia type 2HP:0040282 - Frequent11
HP:0004305HP:0030186Kinetic tremor3ATXN2 CL E G H631110555ORPHA:98756Spinocerebellar ataxia type 2HP:0040282 - Frequent11
HP:0004305HP:0010828Hemifacial spasm3BAP1 CL E G H8314950ORPHA:2495MeningiomaHP:0040284 - Very rare184
HP:0004305HP:0030187Titubation3BRAT1 CL E G H22192721701OMIM:618056Neurodevelopmental disorder with cerebellar atrophy and with or without seizures20
HP:0004305HP:0002174Postural tremor3BSCL2 CL E G H2658015832ORPHA:100998Autosomal dominant spastic paraplegia type 17HP:0040283 - Occasional105
HP:0004305HP:0002174Postural tremor3BSCL2 CL E G H2658015832OMIM:270685Spastic paraplegia 17105
HP:0004305HP:0002378Hand tremor3C19ORF12 CL E G H8363625443ORPHA:289560Mitochondrial membrane protein-associated neurodegenerationHP:0040281 - Very frequent114
HP:0004305HP:0030186Kinetic tremor3CACNA1A CL E G H7731388ORPHA:98758Spinocerebellar ataxia type 6449
HP:0004305HP:0030186Kinetic tremor3CACNA1C CL E G H7751390OMIM:620029572
HP:0004305HP:0002174Postural tremor3CACNA1G CL E G H89131394ORPHA:458803Spinocerebellar ataxia type 4232
HP:0004305HP:0002346Head tremor3CACNA1G CL E G H89131394ORPHA:458803Spinocerebellar ataxia type 42HP:0040283 - Occasional32
HP:0004305HP:0200085Limb tremor3CACNA1G CL E G H89131394ORPHA:458803Spinocerebellar ataxia type 4232
HP:0004305HP:0002378Hand tremor3CAMTA1 CL E G H2326118806OMIM:614756Cerebellar ataxia, nonprogressive, with mental retardation34
HP:0004305HP:0030186Kinetic tremor3CAMTA1 CL E G H2326118806ORPHA:314647Non-progressive cerebellar ataxia with intellectual disability34
HP:0004305HP:0030186Kinetic tremor3CARS1 CL E G H8331493ORPHA:33364Trichothiodystrophy
HP:0004305HP:0002174Postural tremor3CARS2 CL E G H7958725695ORPHA:477774Combined oxidative phosphorylation defect type 2735
HP:0004305HP:0200085Limb tremor3CARS2 CL E G H7958725695ORPHA:477774Combined oxidative phosphorylation defect type 2735
HP:0004305HP:0030186Kinetic tremor3CCDC88C CL E G H44019319967OMIM:616053Spinocerebellar ataxia 4054
HP:0004305HP:0030186Kinetic tremor3CCDC88C CL E G H44019319967ORPHA:423275Spinocerebellar ataxia type 4054
HP:0004305HP:0200085Limb tremor3CDC42BPB CL E G H95781738OMIM:619841
HP:0004305HP:0025387Pill-rolling tremor3CDKL5 CL E G H679211411ORPHA:3095Atypical Rett syndromeHP:0040283 - Occasional405
HP:0004305HP:0002346Head tremor3CEP104 CL E G H973124866OMIM:6199885
HP:0004305HP:0002346Head tremor3CIZ1 CL E G H2579216744ORPHA:420492Adult-onset cervical dystonia, DYT23 typeHP:0040282 - Frequent16
HP:0004305HP:0200085Limb tremor3CIZ1 CL E G H2579216744ORPHA:420492Adult-onset cervical dystonia, DYT23 typeHP:0040282 - Frequent16
HP:0004305HP:0002378Hand tremor3CNTN2 CL E G H69002172ORPHA:86814Benign adult familial myoclonic epilepsyHP:0040281 - Very frequent9
HP:0004305HP:0002174Postural tremor3COL6A3 CL E G H12932213OMIM:616411Dystonia 27.702
HP:0004305HP:0002174Postural tremor3COL6A3 CL E G H12932213ORPHA:464440Primary dystonia, DYT27 type702
HP:0004305HP:0200085Limb tremor3COL6A3 CL E G H12932213ORPHA:464440Primary dystonia, DYT27 type702
HP:0004305HP:0002174Postural tremor3COQ2 CL E G H2723525223ORPHA:227510Multiple system atrophy, cerebellar typeHP:0040282 - Frequent54
HP:0004305HP:0002174Postural tremor3COQ2 CL E G H2723525223ORPHA:98933Multiple system atrophy, parkinsonian typeHP:0040283 - Occasional54
HP:0004305HP:0002174Postural tremor3COX1 CL E G H45127419ORPHA:104Leber hereditary optic neuropathyHP:0040283 - Occasional
HP:0004305HP:0002174Postural tremor3COX3 CL E G H45147422ORPHA:104Leber hereditary optic neuropathyHP:0040283 - Occasional
HP:0004305HP:0002174Postural tremor3COX3 CL E G H45147422OMIM:535000Leber optic atrophy.
HP:0004305HP:0030186Kinetic tremor3CSTB CL E G H14762482ORPHA:308Progressive myoclonic epilepsy type 151
HP:0004305HP:0030186Kinetic tremor3CTDP1 CL E G H91502498ORPHA:48431Congenital cataracts-facial dysmorphism-neuropathy syndrome17
HP:0004305HP:0002378Hand tremor3CTNND2 CL E G H15012516ORPHA:86814Benign adult familial myoclonic epilepsyHP:0040281 - Very frequent15
HP:0004305HP:0030186Kinetic tremor3CWF19L1 CL E G H5528025613ORPHA:453521Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency9
HP:0004305HP:0030186Kinetic tremor3CWF19L1 CL E G H5528025613OMIM:616127Spinocerebellar ataxia, autosomal recessive 179
HP:0004305HP:0002174Postural tremor3CYP7B1 CL E G H94202652OMIM:270800Spastic paraplegia 5A, autosomal recessive57
HP:0004305HP:0002174Postural tremor3CYTB CL E G H45197427ORPHA:104Leber hereditary optic neuropathyHP:0040283 - Occasional
HP:0004305HP:0002174Postural tremor3CYTB CL E G H45197427OMIM:535000Leber optic atrophy.
HP:0004305HP:0200085Limb tremor3DDC CL E G H16442719OMIM:608643Aromatic L-amino acid decarboxylase deficiency43
HP:0004305HP:0002174Postural tremor3DNAJC30 CL E G H8427716410ORPHA:104Leber hereditary optic neuropathyHP:0040283 - Occasional
HP:0004305HP:0025387Pill-rolling tremor3DNAJC6 CL E G H982915469OMIM:615528Parkinson disease 19a, juvenile-onset6
HP:0004305HP:0002346Head tremor3DNMT1 CL E G H17862976ORPHA:314404Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndromeHP:0040283 - Occasional145
HP:0004305HP:0002174Postural tremor3DRD3 CL E G H18143024OMIM:190300Tremor, hereditary essential, 1.21
HP:0004305HP:0002378Hand tremor3DRD3 CL E G H18143024OMIM:190300Tremor, hereditary essential, 1.21
HP:0004305HP:0002346Head tremor3EIF2AK2 CL E G H56109437OMIM:618877LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME; LEUDEN
HP:0004305HP:0030187Titubation3EIF2AK2 CL E G H56109437OMIM:618877LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME; LEUDEN
HP:0004305HP:0030186Kinetic tremor3ELOVL4 CL E G H678514415OMIM:133190Spinocerebellar ataxia 3462
HP:0004305HP:0030186Kinetic tremor3EPRS1 CL E G H20583418OMIM:617951Leukodystrophy, hypomyelinating, 15
HP:0004305HP:0030186Kinetic tremor3ERCC2 CL E G H20683434ORPHA:33364Trichothiodystrophy106
HP:0004305HP:0030186Kinetic tremor3ERCC3 CL E G H20713435ORPHA:33364Trichothiodystrophy54
HP:0004305HP:0030186Kinetic tremor3ERCC6 CL E G H20743438ORPHA:90324Cockayne syndrome type 3199
HP:0004305HP:0030186Kinetic tremor3ERCC8 CL E G H11613439ORPHA:90324Cockayne syndrome type 355
HP:0004305HP:0002378Hand tremor3ERLIN2 CL E G H111601356ORPHA:209951Autosomal recessive spastic paraplegia type 18HP:0040283 - Occasional18
HP:0004305HP:0002378Hand tremor3ERLIN2 CL E G H111601356ORPHA:280384Recessive intellectual disability-motor dysfunction-multiple joint contractures syndromeHP:0040283 - Occasional18
HP:0004305HP:0030186Kinetic tremor3FARS2 CL E G H1066721062ORPHA:466722Autosomal recessive spastic paraplegia type 7736
HP:0004305HP:0030186Kinetic tremor3FBXO7 CL E G H2579313586ORPHA:171695Parkinsonian-pyramidal syndrome36
HP:0004305HP:0002174Postural tremor3FGF14 CL E G H22593671OMIM:193003Nystagmus 4, congenital, autosomal dominant47
HP:0004305HP:0002378Hand tremor3FGF14 CL E G H22593671ORPHA:98764Spinocerebellar ataxia type 27HP:0040283 - Occasional47
HP:0004305HP:0030187Titubation3FLVCR1 CL E G H2898224682ORPHA:88628Posterior column ataxia-retinitis pigmentosa syndrome111
HP:0004305HP:0002174Postural tremor3FMR1 CL E G H23323775OMIM:300623Fragile X tremor/ataxia syndrome.30
HP:0004305HP:0030186Kinetic tremor3FMR1 CL E G H23323775OMIM:300623Fragile X tremor/ataxia syndrome30
HP:0004305HP:0030186Kinetic tremor3FMR1 CL E G H23323775ORPHA:93256Fragile X-associated tremor/ataxia syndrome30
HP:0004305HP:0002346Head tremor3FUS CL E G H25214010ORPHA:300605Juvenile amyotrophic lateral sclerosis105
HP:0004305HP:0030187Titubation3FUS CL E G H25214010ORPHA:300605Juvenile amyotrophic lateral sclerosis105
HP:0004305HP:0002174Postural tremor3FUS CL E G H25214010OMIM:614782TREMOR, HEREDITARY ESSENTIAL, 4; ETM4105
HP:0004305HP:0030186Kinetic tremor3FXN CL E G H23953951ORPHA:95Friedreich ataxia18
HP:0004305HP:0025387Pill-rolling tremor3GABBR2 CL E G H95684507ORPHA:3095Atypical Rett syndromeHP:0040283 - Occasional5
HP:0004305HP:0002174Postural tremor3GALT CL E G H25924135ORPHA:79239Classic galactosemiaHP:0040282 - Frequent351
HP:0004305HP:0002346Head tremor3GBA2 CL E G H5770418986ORPHA:352641Autosomal recessive cerebellar ataxia with late-onset spasticityHP:0040283 - Occasional30
HP:0004305HP:0002346Head tremor3GBA2 CL E G H5770418986ORPHA:320391Autosomal recessive spastic paraplegia type 46HP:0040283 - Occasional30
HP:0004305HP:0002346Head tremor3GBA2 CL E G H5770418986OMIM:614409Spastic paraplegia 46, autosomal recessiveHP:0040283 - Occasional30
HP:0004305HP:0002378Hand tremor3GBA2 CL E G H5770418986OMIM:614409Spastic paraplegia 46, autosomal recessive30
HP:0004305HP:0002174Postural tremor3GCH1 CL E G H26434193ORPHA:98808Autosomal dominant dopa-responsive dystoniaHP:0040282 - Frequent86
HP:0004305HP:0002174Postural tremor3GCH1 CL E G H26434193OMIM:128230Dystonia, DOPA-responsive, with or without hyperphenylalaninemia.86
HP:0004305HP:0002378Hand tremor3GCK CL E G H26454195ORPHA:79299Hyperinsulinism due to glucokinase deficiencyHP:0040282 - Frequent237
HP:0004305HP:0002378Hand tremor3GJB1 CL E G H27054283OMIM:302800Charcot-Marie-Tooth neuropathy, X-linked dominant, 1107
HP:0004305HP:0030186Kinetic tremor3GJB1 CL E G H27054283ORPHA:1175X-linked progressive cerebellar ataxia107
HP:0004305HP:0002346Head tremor3GJC2 CL E G H5716517494OMIM:608804Leukodystrophy, hypomyelinating, 237
HP:0004305HP:0030186Kinetic tremor3GJC2 CL E G H5716517494OMIM:608804Leukodystrophy, hypomyelinating, 237
HP:0004305HP:0030187Titubation3GJC2 CL E G H5716517494OMIM:608804Leukodystrophy, hypomyelinating, 237
HP:0004305HP:0030186Kinetic tremor3GJC2 CL E G H5716517494OMIM:613206Spastic paraplegia 44, autosomal recessive37
HP:0004305HP:0200085Limb tremor3GRIA3 CL E G H28924573OMIM:300699Mental retardation, X-linked 9430
HP:0004305HP:0030186Kinetic tremor3GSS CL E G H29374624OMIM:266130Glutathione synthetase deficiency39
HP:0004305HP:0030186Kinetic tremor3GTF2E2 CL E G H29614651ORPHA:33364Trichothiodystrophy2
HP:0004305HP:0030186Kinetic tremor3GTF2H5 CL E G H40467221157ORPHA:33364Trichothiodystrophy3
HP:0004305HP:0002346Head tremor3HIBCH CL E G H262754908ORPHA:88639Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency32
HP:0004305HP:0030187Titubation3HIBCH CL E G H262754908ORPHA:88639Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency32
HP:0004305HP:0030186Kinetic tremor3HSD17B4 CL E G H32955213OMIM:233400Perrault syndrome 198
HP:0004305HP:0030186Kinetic tremor3HYCC1 CL E G H8466824587OMIM:610532Leukodystrophy, hypomyelinating, 5
HP:0004305HP:0030187Titubation3HYCC1 CL E G H8466824587OMIM:610532Leukodystrophy, hypomyelinating, 5
HP:0004305HP:0002346Head tremor3IFRD1 CL E G H34755456ORPHA:98771Spinocerebellar ataxia type 18HP:0040283 - Occasional1
HP:0004305HP:0030187Titubation3IFRD1 CL E G H34755456ORPHA:98771Spinocerebellar ataxia type 18HP:0040283 - Occasional1
HP:0004305HP:0002174Postural tremor3IMPDH2 CL E G H36156053ORPHA:98808Autosomal dominant dopa-responsive dystoniaHP:0040282 - Frequent1
HP:0004305HP:0010828Hemifacial spasm3INPP5E CL E G H5662321474OMIM:213300Joubert syndrome 1.111
HP:0004305HP:0030186Kinetic tremor3ITM2B CL E G H94456174OMIM:117300Dementia, familial danish3
HP:0004305HP:0200085Limb tremor3ITPA CL E G H37046176OMIM:616647Epileptic encephalopathy, early infantile, 358
HP:0004305HP:0002174Postural tremor3ITPR1 CL E G H37086180OMIM:206700Gillespie syndrome.177
HP:0004305HP:0002174Postural tremor3ITPR1 CL E G H37086180OMIM:606658Spinocerebellar ataxia 15.177
HP:0004305HP:0030186Kinetic tremor3ITPR1 CL E G H37086180OMIM:117360Spinocerebellar ataxia 29177
HP:0004305HP:0030187Titubation3ITPR1 CL E G H37086180OMIM:117360Spinocerebellar ataxia 29177
HP:0004305HP:0002174Postural tremor3ITPR1 CL E G H37086180ORPHA:98769Spinocerebellar ataxia type 15/16177
HP:0004305HP:0002346Head tremor3ITPR1 CL E G H37086180ORPHA:98769Spinocerebellar ataxia type 15/16HP:0040282 - Frequent177
HP:0004305HP:0200085Limb tremor3ITPR1 CL E G H37086180ORPHA:98769Spinocerebellar ataxia type 15/16177
HP:0004305HP:0030186Kinetic tremor3ITPR1 CL E G H37086180ORPHA:208513Spinocerebellar ataxia type 29177
HP:0004305HP:0030187Titubation3KCNC3 CL E G H37486235ORPHA:98768Spinocerebellar ataxia type 13HP:0040282 - Frequent17
HP:0004305HP:0002174Postural tremor3KCND3 CL E G H37526239OMIM:607346Spinocerebellar ataxia 19.35
HP:0004305HP:0030186Kinetic tremor3KCNJ10 CL E G H37666256OMIM:612780Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance121
HP:0004305HP:0030186Kinetic tremor3KCNK4 CL E G H508016279OMIM:618381Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome
HP:0004305HP:0002346Head tremor3KCNN2 CL E G H37816291OMIM:619724DYSTONIA 34, MYOCLONIC; DYT34
HP:0004305HP:0002378Hand tremor3KCNN2 CL E G H37816291OMIM:619724DYSTONIA 34, MYOCLONIC; DYT34
HP:0004305HP:0030186Kinetic tremor3KCNN2 CL E G H37816291OMIM:619725NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE MOVEMENT OR BEHAVIORAL ABNORMALITIES; NEDMAB
HP:0004305HP:0030186Kinetic tremor3KIF1C CL E G H107496317ORPHA:397946Autosomal spastic paraplegia type 5838
HP:0004305HP:0030187Titubation3KIF1C CL E G H107496317ORPHA:397946Autosomal spastic paraplegia type 58HP:0040282 - Frequent38
HP:0004305HP:0002346Head tremor3KIF1C CL E G H107496317OMIM:611302Spastic ataxia 2, autosomal recessive38
HP:0004305HP:0030187Titubation3KIF1C CL E G H107496317OMIM:611302Spastic ataxia 2, autosomal recessive38
HP:0004305HP:0030186Kinetic tremor3KNSTRN CL E G H9041730767ORPHA:221139Combined immunodeficiency with faciooculoskeletal anomalies1
HP:0004305HP:0002346Head tremor3LAMA1 CL E G H2842176481ORPHA:370022Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome35
HP:0004305HP:0030187Titubation3LAMA1 CL E G H2842176481ORPHA:370022Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome35
HP:0004305HP:0030186Kinetic tremor3LEMD2 CL E G H22149621244OMIM:619322MARBACH-RUSTAD PROGEROID SYNDROME; MARUPS1
HP:0004305HP:0030186Kinetic tremor3LMAN2L CL E G H8156219263OMIM:6178631
HP:0004305HP:0002174Postural tremor3LMNB1 CL E G H40016637ORPHA:99027Adult-onset autosomal dominant leukodystrophy44
HP:0004305HP:0002346Head tremor3LMNB1 CL E G H40016637ORPHA:99027Adult-onset autosomal dominant leukodystrophy44
HP:0004305HP:0200085Limb tremor3LMNB1 CL E G H40016637ORPHA:99027Adult-onset autosomal dominant leukodystrophy44
HP:0004305HP:0030186Kinetic tremor3LMNB1 CL E G H40016637ORPHA:99027Adult-onset autosomal dominant leukodystrophy44
HP:0004305HP:0030187Titubation3LMNB1 CL E G H40016637ORPHA:99027Adult-onset autosomal dominant leukodystrophy44
HP:0004305HP:0030187Titubation3MAG CL E G H40996783ORPHA:459056Autosomal recessive spastic paraplegia type 75HP:0040283 - Occasional4
HP:0004305HP:0030186Kinetic tremor3MAOA CL E G H41286833OMIM:300615Brunner syndrome.22
HP:0004305HP:0002378Hand tremor3MARCHF6 CL E G H1029930550ORPHA:86814Benign adult familial myoclonic epilepsyHP:0040281 - Very frequent
HP:0004305HP:0002378Hand tremor3MARS1 CL E G H41416898ORPHA:401835Autosomal recessive spastic paraplegia type 70HP:0040282 - Frequent
HP:0004305HP:0025387Pill-rolling tremor3MECP2 CL E G H42046990ORPHA:3095Atypical Rett syndromeHP:0040283 - Occasional950
HP:0004305HP:0002174Postural tremor3MFN2 CL E G H992716877ORPHA:99947Autosomal dominant Charcot-Marie-Tooth disease type 2A2HP:0040283 - Occasional203
HP:0004305HP:0002378Hand tremor3MFN2 CL E G H992716877ORPHA:99947Autosomal dominant Charcot-Marie-Tooth disease type 2A2HP:0040282 - Frequent203
HP:0004305HP:0031947Tongue tremor3MORC2 CL E G H2288023573ORPHA:466768Autosomal dominant Charcot-Marie-Tooth disease type 2ZHP:0040283 - Occasional8
HP:0004305HP:0030186Kinetic tremor3MPLKIP CL E G H13664716002ORPHA:33364Trichothiodystrophy9
HP:0004305HP:0002174Postural tremor3MPZ CL E G H43597225ORPHA:3115Roussy-Lévy syndromeHP:0040282 - Frequent134
HP:0004305HP:0002174Postural tremor3MPZ CL E G H43597225OMIM:180800Roussy-Levy hereditary areflexic dystasia134
HP:0004305HP:0200085Limb tremor3MPZ CL E G H43597225OMIM:180800Roussy-Levy hereditary areflexic dystasia134
HP:0004305HP:0030186Kinetic tremor3MRE11 CL E G H43617230ORPHA:251347Ataxia-telangiectasia-like disorder532
HP:0004305HP:0002174Postural tremor3MYBPC1 CL E G H46047549OMIM:618524MYOPATHY, CONGENITAL, WITH TREMOR; MYOTREM66
HP:0004305HP:0031947Tongue tremor3MYBPC1 CL E G H46047549OMIM:618524MYOPATHY, CONGENITAL, WITH TREMOR; MYOTREM66
HP:0004305HP:0002174Postural tremor3ND1 CL E G H45357455ORPHA:104Leber hereditary optic neuropathyHP:0040283 - Occasional
HP:0004305HP:0002174Postural tremor3ND1 CL E G H45357455OMIM:535000Leber optic atrophy.
HP:0004305HP:0002174Postural tremor3ND2 CL E G H45367456ORPHA:104Leber hereditary optic neuropathyHP:0040283 - Occasional
HP:0004305HP:0002174Postural tremor3ND2 CL E G H45367456OMIM:535000Leber optic atrophy.
HP:0004305HP:0002174Postural tremor3ND4 CL E G H45387459ORPHA:104Leber hereditary optic neuropathyHP:0040283 - Occasional
HP:0004305HP:0002174Postural tremor3ND4 CL E G H45387459OMIM:535000Leber optic atrophy.
HP:0004305HP:0002174Postural tremor3ND4L CL E G H45397460ORPHA:104Leber hereditary optic neuropathyHP:0040283 - Occasional
HP:0004305HP:0002174Postural tremor3ND4L CL E G H45397460OMIM:535000Leber optic atrophy.
HP:0004305HP:0002174Postural tremor3ND5 CL E G H45407461ORPHA:104Leber hereditary optic neuropathyHP:0040283 - Occasional
HP:0004305HP:0002174Postural tremor3ND5 CL E G H45407461OMIM:535000Leber optic atrophy.
HP:0004305HP:0002174Postural tremor3ND6 CL E G H45417462ORPHA:104Leber hereditary optic neuropathyHP:0040283 - Occasional
HP:0004305HP:0002174Postural tremor3ND6 CL E G H45417462OMIM:535000Leber optic atrophy.
HP:0004305HP:0002174Postural tremor3NDRG1 CL E G H103977679ORPHA:99950Charcot-Marie-Tooth disease type 4DHP:0040283 - Occasional82
HP:0004305HP:0002174Postural tremor3NDUFS2 CL E G H47207708ORPHA:104Leber hereditary optic neuropathyHP:0040283 - Occasional65
HP:0004305HP:0002346Head tremor3NEFL CL E G H47477739ORPHA:101085Charcot-Marie-Tooth disease type 1FHP:0040282 - Frequent118
HP:0004305HP:0002378Hand tremor3NEFL CL E G H47477739ORPHA:101085Charcot-Marie-Tooth disease type 1FHP:0040282 - Frequent118
HP:0004305HP:0010828Hemifacial spasm3NF2 CL E G H47717773ORPHA:2495MeningiomaHP:0040284 - Very rare220
HP:0004305HP:0030186Kinetic tremor3NFASC CL E G H2311429866OMIM:618356Neurodevelopmental disorder with central and peripheral motor dysfunction
HP:0004305HP:0002174Postural tremor3NIPA1 CL E G H12360617043ORPHA:100988Autosomal dominant spastic paraplegia type 6HP:0040283 - Occasional117
HP:0004305HP:0030186Kinetic tremor3NKX2-1 CL E G H708011825ORPHA:209905Brain-lung-thyroid syndrome51
HP:0004305HP:0002346Head tremor3NKX6-2 CL E G H8450419321ORPHA:527497NKX6-2-related autosomal recessive hypomyelinating leukodystrophy2
HP:0004305HP:0030187Titubation3NKX6-2 CL E G H8450419321ORPHA:527497NKX6-2-related autosomal recessive hypomyelinating leukodystrophy2
HP:0004305HP:0002346Head tremor3NKX6-2 CL E G H8450419321OMIM:617560Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy2
HP:0004305HP:0030187Titubation3NKX6-2 CL E G H8450419321OMIM:617560Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy2
HP:0004305HP:0030186Kinetic tremor3NONO CL E G H48417871ORPHA:466791Macrocephaly-intellectual disability-left ventricular non compaction syndrome10
HP:0004305HP:0002346Head tremor3NOP56 CL E G H1052815911ORPHA:276198Spinocerebellar ataxia type 36HP:0040284 - Very rare9
HP:0004305HP:0002378Hand tremor3NOP56 CL E G H1052815911ORPHA:276198Spinocerebellar ataxia type 36HP:0040284 - Very rare9
HP:0004305HP:0030186Kinetic tremor3NOP56 CL E G H1052815911ORPHA:276198Spinocerebellar ataxia type 369
HP:0004305HP:0002174Postural tremor3NOTCH2NLC CL E G H10099671753924OMIM:618866TREMOR, HEREDITARY ESSENTIAL, 6; ETM6
HP:0004305HP:0002346Head tremor3NOTCH2NLC CL E G H10099671753924OMIM:618866TREMOR, HEREDITARY ESSENTIAL, 6; ETM6
HP:0004305HP:0012477Vocal tremor3NOTCH2NLC CL E G H10099671753924OMIM:618866TREMOR, HEREDITARY ESSENTIAL, 6; ETM6
HP:0004305HP:0030186Kinetic tremor3NOTCH2NLC CL E G H10099671753924OMIM:618866TREMOR, HEREDITARY ESSENTIAL, 6; ETM6
HP:0004305HP:0002174Postural tremor3NR4A2 CL E G H49297981OMIM:61991127
HP:0004305HP:0002174Postural tremor3NR4A2 CL E G H49297981ORPHA:98808Autosomal dominant dopa-responsive dystoniaHP:0040282 - Frequent27
HP:0004305HP:0025387Pill-rolling tremor3NTNG1 CL E G H2285423319ORPHA:3095Atypical Rett syndromeHP:0040283 - Occasional1
HP:0004305HP:0002174Postural tremor3OPA3 CL E G H802078142ORPHA:67036Autosomal dominant optic atrophy and cataractHP:0040282 - Frequent163
HP:0004305HP:0030186Kinetic tremor3OPHN1 CL E G H49838148ORPHA:137831X-linked intellectual disability-cerebellar hypoplasia syndrome55
HP:0004305HP:0002174Postural tremor3PARK7 CL E G H1131516369OMIM:606324PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET; PARK723
HP:0004305HP:0010828Hemifacial spasm3PDGFB CL E G H51558800ORPHA:2495MeningiomaHP:0040284 - Very rare9
HP:0004305HP:0002378Hand tremor3PDK3 CL E G H51658811OMIM:300905Charcot-Marie-Tooth disease, X-linked dominant, 6.4
HP:0004305HP:0002378Hand tremor3PDK3 CL E G H51658811ORPHA:352675X-linked Charcot-Marie-Tooth disease type 6HP:0040281 - Very frequent4
HP:0004305HP:0030186Kinetic tremor3PEX10 CL E G H51928851OMIM:614871Peroxisome biogenesis disorder 6B75
HP:0004305HP:0200085Limb tremor3PEX16 CL E G H94098857OMIM:614877Peroxisome biogenesis disorder 8B59
HP:0004305HP:0002346Head tremor3PEX6 CL E G H51908859ORPHA:95433Autosomal recessive spinocerebellar ataxia-blindness-deafness syndromeHP:0040282 - Frequent98
HP:0004305HP:0200085Limb tremor3PGAP1 CL E G H8005525712ORPHA:401820Autosomal recessive spastic paraplegia type 67HP:0040282 - Frequent20
HP:0004305HP:0002378Hand tremor3PHIP CL E G H5502315673ORPHA:589905PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome11
HP:0004305HP:0002346Head tremor3PI4KA CL E G H52978983OMIM:619708GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 2; GIDID211
HP:0004305HP:0030186Kinetic tremor3PI4KA CL E G H52978983OMIM:619708GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 2; GIDID211
HP:0004305HP:0030187Titubation3PI4KA CL E G H52978983OMIM:619708GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 2; GIDID211
HP:0004305HP:0002174Postural tremor3PIGA CL E G H52778957OMIM:301072NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS; NEDEPH46
HP:0004305HP:0030186Kinetic tremor3PIK3CA CL E G H52908975OMIM:615108Cowden syndrome 5162
HP:0004305HP:0010828Hemifacial spasm3PIK3CA CL E G H52908975ORPHA:2495MeningiomaHP:0040284 - Very rare162
HP:0004305HP:0030186Kinetic tremor3PIK3CD CL E G H52938977ORPHA:221139Combined immunodeficiency with faciooculoskeletal anomalies9
HP:0004305HP:0002174Postural tremor3PIK3R5 CL E G H2353330035ORPHA:64753Spinocerebellar ataxia with axonal neuropathy type 2HP:0040283 - Occasional11
HP:0004305HP:0002346Head tremor3PIK3R5 CL E G H2353330035ORPHA:64753Spinocerebellar ataxia with axonal neuropathy type 2HP:0040283 - Occasional11
HP:0004305HP:0030187Titubation3PITRM1 CL E G H1053117663OMIM:619405SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 30; SCAR301
HP:0004305HP:0030186Kinetic tremor3PLA2G6 CL E G H83989039OMIM:610217Neurodegeneration with brain iron accumulation 2B133
HP:0004305HP:0002174Postural tremor3PLA2G6 CL E G H83989039OMIM:612953Parkinson disease 14, autosomal recessive133
HP:0004305HP:0002378Hand tremor3PLA2G6 CL E G H83989039OMIM:612953Parkinson disease 14, autosomal recessive133
HP:0004305HP:0200085Limb tremor3PLA2G6 CL E G H83989039OMIM:612953Parkinson disease 14, autosomal recessive133
HP:0004305HP:0025387Pill-rolling tremor3PLA2G6 CL E G H83989039OMIM:612953Parkinson disease 14, autosomal recessive133
HP:0004305HP:0002346Head tremor3PLP1 CL E G H53549086OMIM:312080Pelizaeus-Merzbacher disease60
HP:0004305HP:0030186Kinetic tremor3PLP1 CL E G H53549086OMIM:312080Pelizaeus-Merzbacher disease60
HP:0004305HP:0030187Titubation3PLP1 CL E G H53549086OMIM:312080Pelizaeus-Merzbacher disease60
HP:0004305HP:0002346Head tremor3PLP1 CL E G H53549086ORPHA:280219Pelizaeus-Merzbacher disease, classic formHP:0040282 - Frequent60
HP:0004305HP:0030187Titubation3PLP1 CL E G H53549086ORPHA:280219Pelizaeus-Merzbacher disease, classic formHP:0040282 - Frequent60
HP:0004305HP:0030187Titubation3PLP1 CL E G H53549086ORPHA:280210Pelizaeus-Merzbacher disease, connatal formHP:0040282 - Frequent60
HP:0004305HP:0030186Kinetic tremor3PMM2 CL E G H53739115OMIM:212065Congenital disorder of glycosylation, type Ia150
HP:0004305HP:0002378Hand tremor3PMP2 CL E G H53759117OMIM:618279Charcot-Marie-Tooth disease, demyelinating, type 1G1
HP:0004305HP:0002174Postural tremor3PMP22 CL E G H53769118ORPHA:3115Roussy-Lévy syndromeHP:0040282 - Frequent79
HP:0004305HP:0002174Postural tremor3PMP22 CL E G H53769118OMIM:180800Roussy-Levy hereditary areflexic dystasia79
HP:0004305HP:0200085Limb tremor3PMP22 CL E G H53769118OMIM:180800Roussy-Levy hereditary areflexic dystasia79
HP:0004305HP:0007098Paroxysmal choreoathetosis3PNKD CL E G H259539153OMIM:118800Paroxysmal nonkinesigenic dyskinesia 1.66
HP:0004305HP:0030186Kinetic tremor3PNPLA6 CL E G H1090816268OMIM:215470Boucher-Neuhauser syndrome103
HP:0004305HP:0002378Hand tremor3POLG CL E G H54289179OMIM:157640Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1464
HP:0004305HP:0030186Kinetic tremor3POLG CL E G H54289179OMIM:258450Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive464
HP:0004305HP:0002174Postural tremor3POLR3A CL E G H1112830074OMIM:607694Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism.138
HP:0004305HP:0002174Postural tremor3POLR3A CL E G H1112830074ORPHA:447896Tremor-ataxia-central hypomyelination syndromeHP:0040282 - Frequent138
HP:0004305HP:0030186Kinetic tremor3POLR3A CL E G H1112830074ORPHA:447896Tremor-ataxia-central hypomyelination syndrome138
HP:0004305HP:0030186Kinetic tremor3POLR3A CL E G H1112830074OMIM:264090Wiedemann-Rautenstrauch syndrome138
HP:0004305HP:0002174Postural tremor3POLR3B CL E G H5570330348OMIM:607694Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism.67
HP:0004305HP:0030186Kinetic tremor3POLR3B CL E G H5570330348OMIM:614381Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism67
HP:0004305HP:0030186Kinetic tremor3POU4F1 CL E G H54579218OMIM:619352ATAXIA, INTENTION TREMOR, AND HYPOTONIA SYNDROME, CHILDHOOD-ONSET; ATITHS
HP:0004305HP:0030186Kinetic tremor3POU4F1 CL E G H54579218ORPHA:314647Non-progressive cerebellar ataxia with intellectual disability
HP:0004305HP:0030186Kinetic tremor3PPP1R15B CL E G H8491914951OMIM:616817Microcephaly, short stature, and impaired glucose metabolism 22
HP:0004305HP:0002346Head tremor3PPP2R2B CL E G H55219305OMIM:604326Spinocerebellar ataxia 12.5
HP:0004305HP:0002174Postural tremor3PPP2R2B CL E G H55219305ORPHA:98762Spinocerebellar ataxia type 12HP:0040283 - Occasional5
HP:0004305HP:0030186Kinetic tremor3PPP2R2B CL E G H55219305ORPHA:98762Spinocerebellar ataxia type 125
HP:0004305HP:0002174Postural tremor3PRDX3 CL E G H109359354OMIM:619862
HP:0004305HP:0030186Kinetic tremor3PRICKLE1 CL E G H14416517019ORPHA:308Progressive myoclonic epilepsy type 1133
HP:0004305HP:0002174Postural tremor3PRKRA CL E G H85759438ORPHA:210571Dystonia 16HP:0040282 - Frequent37
HP:0004305HP:0002174Postural tremor3PRKRA CL E G H85759438OMIM:612067Dystonia 16.37
HP:0004305HP:0007098Paroxysmal choreoathetosis3PRRT2 CL E G H11247630500OMIM:602066Convulsions, familial infantile, with paroxysmal choreoathetosis.94
HP:0004305HP:0007098Paroxysmal choreoathetosis3PRRT2 CL E G H11247630500OMIM:128200Episodic kinesigenic dyskinesia 1.94
HP:0004305HP:0030186Kinetic tremor3PSAP CL E G H56609498OMIM:610539Gaucher disease, atypical81
HP:0004305HP:0030186Kinetic tremor3PSAP CL E G H56609498ORPHA:309271Metachromatic leukodystrophy, adult form81
HP:0004305HP:0030186Kinetic tremor3PSAP CL E G H56609498ORPHA:309263Metachromatic leukodystrophy, juvenile form81
HP:0004305HP:0030186Kinetic tremor3PTEN CL E G H57289588OMIM:158350Cowden syndrome 1948
HP:0004305HP:0030186Kinetic tremor3QRICH1 CL E G H5487024713OMIM:617982VERVERI-BRADY SYNDROME; VERBRAS
HP:0004305HP:0002378Hand tremor3RAB3GAP2 CL E G H2578217168ORPHA:401830Autosomal recessive spastic paraplegia type 69HP:0040282 - Frequent135
HP:0004305HP:0033054Myoclonic tremor3RAPGEF2 CL E G H969316854OMIM:618075EPILEPSY, FAMILIAL ADULT MYOCLONIC, 7; FAME7
HP:0004305HP:0030186Kinetic tremor3RARS1 CL E G H59179870OMIM:616140Leukodystrophy, hypomyelinating, 9
HP:0004305HP:0030186Kinetic tremor3RARS1 CL E G H59179870ORPHA:438114RARS-related autosomal recessive hypomyelinating leukodystrophy
HP:0004305HP:0002174Postural tremor3REEP2 CL E G H5130817975ORPHA:401849Autosomal spastic paraplegia type 72HP:0040283 - Occasional3
HP:0004305HP:0030186Kinetic tremor3RFC1 CL E G H59819969ORPHA:504476Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome
HP:0004305HP:0002174Postural tremor3RILPL1 CL E G H35311626814OMIM:619790OCULOPHARYNGODISTAL MYOPATHY 4; OPDM4
HP:0004305HP:0030186Kinetic tremor3RNF113A CL E G H773712974ORPHA:33364Trichothiodystrophy3
HP:0004305HP:0030186Kinetic tremor3RNU12 CL E G H26701019380ORPHA:512260Congenital cerebellar ataxia due to RNU12 mutation
HP:0004305HP:0030186Kinetic tremor3SACS CL E G H2627810519ORPHA:98Autosomal recessive spastic ataxia of Charlevoix-Saguenay309
HP:0004305HP:0002378Hand tremor3SAMD12 CL E G H40147431750ORPHA:86814Benign adult familial myoclonic epilepsyHP:0040281 - Very frequent2
HP:0004305HP:0002174Postural tremor3SCARB2 CL E G H9501665OMIM:254900Epilepsy, progressive myoclonic, 4, with or without renal failure.77
HP:0004305HP:0030186Kinetic tremor3SCARB2 CL E G H9501665OMIM:254900Epilepsy, progressive myoclonic, 4, with or without renal failure77
HP:0004305HP:0030186Kinetic tremor3SCARB2 CL E G H9501665ORPHA:308Progressive myoclonic epilepsy type 177
HP:0004305HP:0002346Head tremor3SCP2 CL E G H634210606OMIM:613724Leukoencephalopathy with dystonia and motor neuropathy.4
HP:0004305HP:0030186Kinetic tremor3SCP2 CL E G H634210606OMIM:613724Leukoencephalopathy with dystonia and motor neuropathy4
HP:0004305HP:0030186Kinetic tremor3SCYL1 CL E G H5741014372ORPHA:466794Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome5
HP:0004305HP:0030186Kinetic tremor3SEMA6B CL E G H1050110739OMIM:618876EPILEPSY, PROGRESSIVE MYOCLONIC, 11; EPM11
HP:0004305HP:0002174Postural tremor3SETX CL E G H23064445ORPHA:64753Spinocerebellar ataxia with axonal neuropathy type 2HP:0040283 - Occasional162
HP:0004305HP:0002346Head tremor3SETX CL E G H23064445ORPHA:64753Spinocerebellar ataxia with axonal neuropathy type 2HP:0040283 - Occasional162
HP:0004305HP:0002346Head tremor3SETX CL E G H23064445OMIM:606002Spinocerebellar ataxia, autosomal recessive 1162
HP:0004305HP:0002346Head tremor3SH3TC2 CL E G H7962829427ORPHA:99949Charcot-Marie-Tooth disease type 4CHP:0040283 - Occasional493
HP:0004305HP:0002346Head tremor3SIGMAR1 CL E G H102808157ORPHA:300605Juvenile amyotrophic lateral sclerosis6
HP:0004305HP:0030187Titubation3SIGMAR1 CL E G H102808157ORPHA:300605Juvenile amyotrophic lateral sclerosis6
HP:0004305HP:0200085Limb tremor3SLC12A6 CL E G H999010914OMIM:218000Agenesis of the corpus callosum with peripheral neuropathy.163
HP:0004305HP:0030187Titubation3SLC19A3 CL E G H8070416266OMIM:607483Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2)110
HP:0004305HP:0030186Kinetic tremor3SLC25A46 CL E G H9113725198OMIM:616505Neuropathy, hereditary motor and sensory, type VIB14
HP:0004305HP:0030186Kinetic tremor3SLC6A17 CL E G H38866231399OMIM:616269Mental retardation, autosomal recessive 48.12
HP:0004305HP:0002378Hand tremor3SLC6A17 CL E G H38866231399ORPHA:457212Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndromeHP:0040282 - Frequent12
HP:0004305HP:0010828Hemifacial spasm3SMARCB1 CL E G H659811103ORPHA:2495MeningiomaHP:0040284 - Very rare87
HP:0004305HP:0010828Hemifacial spasm3SMARCE1 CL E G H660511109ORPHA:2495MeningiomaHP:0040284 - Very rare47
HP:0004305HP:0025387Pill-rolling tremor3SMC1A CL E G H824311111ORPHA:3095Atypical Rett syndromeHP:0040283 - Occasional135
HP:0004305HP:0030186Kinetic tremor3SMG9 CL E G H5600625763OMIM:6199952
HP:0004305HP:0002378Hand tremor3SMN1 CL E G H660611117OMIM:253550Spinal muscular atrophy, type II.22
HP:0004305HP:0002378Hand tremor3SMN1 CL E G H660611117OMIM:253400Spinal muscular atrophy, type III.22
HP:0004305HP:0002378Hand tremor3SMN1 CL E G H660611117OMIM:271150Spinal muscular atrophy, type IV.22
HP:0004305HP:0002378Hand tremor3SMN2 CL E G H660711118OMIM:253400Spinal muscular atrophy, type III.1
HP:0004305HP:0010828Hemifacial spasm3SMO CL E G H660811119ORPHA:2495MeningiomaHP:0040284 - Very rare22
HP:0004305HP:0030186Kinetic tremor3SNCA CL E G H662211138ORPHA:171695Parkinsonian-pyramidal syndrome65
HP:0004305HP:0200085Limb tremor3SNRPN CL E G H663811164OMIM:105830Angelman syndrome.37
HP:0004305HP:0002346Head tremor3SPG11 CL E G H8020811226ORPHA:300605Juvenile amyotrophic lateral sclerosis287
HP:0004305HP:0030187Titubation3SPG11 CL E G H8020811226ORPHA:300605Juvenile amyotrophic lateral sclerosis287
HP:0004305HP:0002346Head tremor3SPTBN1 CL E G H671111275OMIM:619475DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0004305HP:0030185Isometric tremor3SPTBN1 CL E G H671111275OMIM:619475DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0004305HP:0030186Kinetic tremor3SPTBN1 CL E G H671111275OMIM:619475DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0004305HP:0030187Titubation3SPTBN1 CL E G H671111275OMIM:619475DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0004305HP:0030186Kinetic tremor3SPTBN2 CL E G H671211276ORPHA:352403Spectrin-associated autosomal recessive cerebellar ataxia126
HP:0004305HP:0030186Kinetic tremor3SPTBN2 CL E G H671211276OMIM:600224Spinocerebellar ataxia 5126
HP:0004305HP:0030186Kinetic tremor3SPTBN2 CL E G H671211276OMIM:615386Spinocerebellar ataxia, autosomal recessive 14126
HP:0004305HP:0002346Head tremor3SPTLC1 CL E G H1055811277ORPHA:300605Juvenile amyotrophic lateral sclerosis54
HP:0004305HP:0030187Titubation3SPTLC1 CL E G H1055811277ORPHA:300605Juvenile amyotrophic lateral sclerosis54
HP:0004305HP:0002378Hand tremor3SPTLC1 CL E G H1055811277OMIM:162400Neuropathy, hereditary sensory and autonomic, type IA54
HP:0004305HP:0002174Postural tremor3STUB1 CL E G H1027311427ORPHA:412057Autosomal recessive cerebellar ataxia due to STUB1 deficiencyHP:0040283 - Occasional14
HP:0004305HP:0002346Head tremor3STUB1 CL E G H1027311427ORPHA:412057Autosomal recessive cerebellar ataxia due to STUB1 deficiencyHP:0040283 - Occasional14
HP:0004305HP:0002378Hand tremor3STUB1 CL E G H1027311427ORPHA:412057Autosomal recessive cerebellar ataxia due to STUB1 deficiencyHP:0040283 - Occasional14
HP:0004305HP:0010828Hemifacial spasm3SUFU CL E G H5168416466ORPHA:2495MeningiomaHP:0040284 - Very rare124
HP:0004305HP:0002378Hand tremor3TAF1 CL E G H687211535ORPHA:53351X-linked dystonia-parkinsonismHP:0040282 - Frequent21
HP:0004305HP:0030186Kinetic tremor3TARS1 CL E G H689711572ORPHA:33364Trichothiodystrophy
HP:0004305HP:0002378Hand tremor3TBC1D24 CL E G H5746529203OMIM:608105Epilepsy, rolandic, with paroxysmal exercise-induced dystonia and writer's cramp271
HP:0004305HP:0030186Kinetic tremor3TBP CL E G H690811588OMIM:607136Spinocerebellar ataxia 177
HP:0004305HP:0030186Kinetic tremor3TECR CL E G H95244551OMIM:614020Mental retardation, autosomal recessive 1417
HP:0004305HP:0002174Postural tremor3TENM4 CL E G H2601129945OMIM:616736Tremor, hereditary essential, 55
HP:0004305HP:0030186Kinetic tremor3TENM4 CL E G H2601129945OMIM:616736Tremor, hereditary essential, 55
HP:0004305HP:0031947Tongue tremor3TENM4 CL E G H2601129945OMIM:616736Tremor, hereditary essential, 5HP:0040284 - Very rare5
HP:0004305HP:0010828Hemifacial spasm3TERT CL E G H701511730ORPHA:2495MeningiomaHP:0040284 - Very rare238
HP:0004305HP:0002378Hand tremor3TFG CL E G H1034211758OMIM:604484Neuropathy, hereditary motor and sensory, Okinawa typeHP:0040283 - Occasional18
HP:0004305HP:0030186Kinetic tremor3TGM6 CL E G H34364116255OMIM:613908Spinocerebellar ataxia 3558
HP:0004305HP:0030186Kinetic tremor3TGM6 CL E G H34364116255ORPHA:276193Spinocerebellar ataxia type 3558
HP:0004305HP:0002174Postural tremor3TH CL E G H705411782ORPHA:101150Autosomal recessive dopa-responsive dystoniaHP:0040282 - Frequent80
HP:0004305HP:0030187Titubation3THG1L CL E G H5497426053OMIM:618800SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 28; SCAR28
HP:0004305HP:0030186Kinetic tremor3TMCO1 CL E G H5449918188OMIM:213980Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome6
HP:0004305HP:0030186Kinetic tremor3TMEM106B CL E G H5466422407OMIM:617964Leukodystrophy, hypomyelinating, 16
HP:0004305HP:0002174Postural tremor3TMEM240 CL E G H33945325186OMIM:607454Spinocerebellar ataxia 219
HP:0004305HP:0030186Kinetic tremor3TMEM240 CL E G H33945325186OMIM:607454Spinocerebellar ataxia 219
HP:0004305HP:0002346Head tremor3TMEM63A CL E G H972529118OMIM:618688LEUKODYSTROPHY, HYPOMYELINATING, 19, TRANSIENT INFANTILE; HLD19
HP:0004305HP:0030186Kinetic tremor3TMEM63A CL E G H972529118OMIM:618688LEUKODYSTROPHY, HYPOMYELINATING, 19, TRANSIENT INFANTILE; HLD19
HP:0004305HP:0030187Titubation3TMEM63A CL E G H972529118OMIM:618688LEUKODYSTROPHY, HYPOMYELINATING, 19, TRANSIENT INFANTILE; HLD19
HP:0004305HP:0030186Kinetic tremor3TMEM70 CL E G H5496826050OMIM:614052Mitochondrial complex V (atp synthase) deficiency, nuclear type 263
HP:0004305HP:0033054Myoclonic tremor3TNRC6A CL E G H2732711969OMIM:618074EPILEPSY, FAMILIAL ADULT MYOCLONIC, 6; FAME6
HP:0004305HP:0002378Hand tremor3TOR1A CL E G H18613098OMIM:618947ARTHROGRYPOSIS MULTIPLEX CONGENITA 5; AMC547
HP:0004305HP:0030186Kinetic tremor3TPK1 CL E G H2701017358OMIM:614458Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type)21
HP:0004305HP:0002174Postural tremor3TPP1 CL E G H12002073ORPHA:284324Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxiaHP:0040283 - Occasional203
HP:0004305HP:0002174Postural tremor3TPP1 CL E G H12002073OMIM:609270Spinocerebellar ataxia, autosomal recessive 7.203
HP:0004305HP:0010828Hemifacial spasm3TRAF7 CL E G H8423120456ORPHA:2495MeningiomaHP:0040284 - Very rare
HP:0004305HP:0002378Hand tremor3TRAPPC6B CL E G H12255323066OMIM:617862Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy
HP:0004305HP:0002346Head tremor3TRIM8 CL E G H8160315579OMIM:619428FOCAL SEGMENTAL GLOMERULOSCLEROSIS AND NEURODEVELOPMENTAL SYNDROME; FSGSNEDS1
HP:0004305HP:0002378Hand tremor3TSHR CL E G H725312373ORPHA:99819Familial gestational hyperthyroidismHP:0040281 - Very frequent97
HP:0004305HP:0002378Hand tremor3TSHR CL E G H725312373ORPHA:424Familial hyperthyroidism due to mutations in TSH receptorHP:0040281 - Very frequent97
HP:0004305HP:0002174Postural tremor3TSPOAP1 CL E G H925616831ORPHA:101150Autosomal recessive dopa-responsive dystoniaHP:0040282 - Frequent2
HP:0004305HP:0002174Postural tremor3TUBB4A CL E G H1038220774ORPHA:98805Primary dystonia, DYT4 type66
HP:0004305HP:0200085Limb tremor3TUBB4A CL E G H1038220774ORPHA:98805Primary dystonia, DYT4 type66
HP:0004305HP:0200085Limb tremor3UBE3A CL E G H733712496OMIM:105830Angelman syndrome.278
HP:0004305HP:0002174Postural tremor3UCHL1 CL E G H734512513OMIM:615491Spastic paraplegia 79, autosomal recessive21
HP:0004305HP:0002346Head tremor3UCHL1 CL E G H734512513OMIM:615491Spastic paraplegia 79, autosomal recessive21
HP:0004305HP:0030186Kinetic tremor3UCHL1 CL E G H734512513OMIM:615491Spastic paraplegia 79, autosomal recessive21
HP:0004305HP:0030187Titubation3UCHL1 CL E G H734512513OMIM:615491Spastic paraplegia 79, autosomal recessive21
HP:0004305HP:0030186Kinetic tremor3UFC1 CL E G H5150626941OMIM:618076Neurodevelopmental disorder with spasticity and poor growth
HP:0004305HP:0002174Postural tremor3VAPB CL E G H921712649OMIM:608627Amyotrophic lateral sclerosis 8116
HP:0004305HP:0030186Kinetic tremor3VLDLR CL E G H743612698OMIM:224050Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1111
HP:0004305HP:0002346Head tremor3VPS13A CL E G H232301908ORPHA:2388Choreoacanthocytosis130
HP:0004305HP:0007326Progressive choreoathetosis3VPS13A CL E G H232301908OMIM:200150CHOREOACANTHOCYTOSIS.130
HP:0004305HP:0030187Titubation3VPS13A CL E G H232301908ORPHA:2388Choreoacanthocytosis130
HP:0004305HP:0002378Hand tremor3VRK1 CL E G H744312718OMIM:607596Pontocerebellar hypoplasia type 1A32
HP:0004305HP:0030186Kinetic tremor3VWA3B CL E G H20040328385OMIM:616948Spinocerebellar ataxia, autosomal recessive 221
HP:0004305HP:0030186Kinetic tremor3XPNPEP3 CL E G H6392928052OMIM:613159Nephronophthisis-Like nephropathy 1.109
HP:0004305HP:0002378Hand tremor3YEATS2 CL E G H5568925489ORPHA:86814Benign adult familial myoclonic epilepsyHP:0040281 - Very frequent1
HP:0004305HP:0002378Hand tremor3ZFR CL E G H5166317277ORPHA:401840Autosomal recessive spastic paraplegia type 71HP:0040282 - Frequent1
HP:0004305HP:0002378Hand tremor3ZFYVE26 CL E G H2350320761ORPHA:100996Autosomal recessive spastic paraplegia type 15HP:0040283 - Occasional189
HP:0004305HP:0002599Head titubation4AARS1 CL E G H1620OMIM:619691TRICHOTHIODYSTROPHY 8, NONPHOTOSENSITIVE; TTD8
HP:0004305HP:0002080Intention tremor4ABCB7 CL E G H2248OMIM:301310Anemia, sideroblastic, and spinocerebellar ataxia.35
HP:0004305HP:0002080Intention tremor4ABHD12 CL E G H2609015868OMIM:612674Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract.50
HP:0004305HP:0030147Truncal titubation4ACBD5 CL E G H9145223338OMIM:618863RETINAL DYSTROPHY WITH LEUKODYSTROPHY; RDLKD1
HP:0004305HP:0002080Intention tremor4ADPRS CL E G H5493621304OMIM:618170Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures
HP:0004305HP:0002080Intention tremor4AKT1 CL E G H207391OMIM:615109Cowden syndrome 6.54
HP:0004305HP:0002599Head titubation4ALS2 CL E G H57679443OMIM:205100Amyotrophic lateral sclerosis 2, juvenile114
HP:0004305HP:0002599Head titubation4ALS2 CL E G H57679443ORPHA:300605Juvenile amyotrophic lateral sclerosisHP:0040283 - Occasional114
HP:0004305HP:0002080Intention tremor4AMACR CL E G H23600451OMIM:614307Alpha-methylacyl-CoA racemase deficiency44
HP:0004305HP:0002080Intention tremor4ANO10 CL E G H5512925519ORPHA:284289Adult-onset autosomal recessive cerebellar ataxiaHP:0040283 - Occasional64
HP:0004305HP:0002080Intention tremor4ANO10 CL E G H5512925519OMIM:613728Spinocerebellar ataxia, autosomal recessive 10HP:0040283 - Occasional64
HP:0004305HP:0007351Upper limb postural tremor4ANO3 CL E G H6398214004ORPHA:420485Cranio-cervical dystonia with laryngeal and upper-limb involvementHP:0040283 - Occasional17
HP:0004305HP:0002080Intention tremor4ARSA CL E G H410713ORPHA:309271Metachromatic leukodystrophy, adult formHP:0040283 - Occasional253
HP:0004305HP:0002080Intention tremor4ARSA CL E G H410713ORPHA:309263Metachromatic leukodystrophy, juvenile formHP:0040283 - Occasional253
HP:0004305HP:0002080Intention tremor4ATCAY CL E G H85300779ORPHA:94122Cerebellar ataxia, Cayman typeHP:0040282 - Frequent72
HP:0004305HP:0002080Intention tremor4ATCAY CL E G H85300779OMIM:601238Cerebellar ataxia, Cayman type.72
HP:0004305HP:0002080Intention tremor4ATM CL E G H472795OMIM:208900ATAXIA-TELANGIECTASIA3267
HP:0004305HP:0002080Intention tremor4ATP2B3 CL E G H492816OMIM:302500Spinocerebellar ataxia, X-linked 1.19
HP:0004305HP:0002080Intention tremor4ATP2B3 CL E G H492816ORPHA:314978X-linked non progressive cerebellar ataxiaHP:0040282 - Frequent19
HP:0004305HP:0002080Intention tremor4ATXN10 CL E G H2581410549ORPHA:98761Spinocerebellar ataxia type 10HP:0040282 - Frequent9
HP:0004305HP:0030147Truncal titubation4BRAT1 CL E G H22192721701OMIM:618056Neurodevelopmental disorder with cerebellar atrophy and with or without seizures.20
HP:0004305HP:0002080Intention tremor4CACNA1A CL E G H7731388ORPHA:98758Spinocerebellar ataxia type 6HP:0040281 - Very frequent449
HP:0004305HP:0002080Intention tremor4CACNA1C CL E G H7751390OMIM:620029572
HP:0004305HP:0007351Upper limb postural tremor4CACNA1G CL E G H89131394ORPHA:458803Spinocerebellar ataxia type 42HP:0040283 - Occasional32
HP:0004305HP:0002080Intention tremor4CAMTA1 CL E G H2326118806ORPHA:314647Non-progressive cerebellar ataxia with intellectual disabilityHP:0040284 - Very rare34
HP:0004305HP:0002080Intention tremor4CARS1 CL E G H8331493ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional
HP:0004305HP:0007351Upper limb postural tremor4CARS2 CL E G H7958725695ORPHA:477774Combined oxidative phosphorylation defect type 27HP:0040283 - Occasional35
HP:0004305HP:0002080Intention tremor4CCDC88C CL E G H44019319967OMIM:616053Spinocerebellar ataxia 40.54
HP:0004305HP:0002080Intention tremor4CCDC88C CL E G H44019319967ORPHA:423275Spinocerebellar ataxia type 40HP:0040282 - Frequent54
HP:0004305HP:0007351Upper limb postural tremor4COL6A3 CL E G H12932213ORPHA:464440Primary dystonia, DYT27 typeHP:0040282 - Frequent702
HP:0004305HP:0002080Intention tremor4CSTB CL E G H14762482ORPHA:308Progressive myoclonic epilepsy type 1HP:0040282 - Frequent51
HP:0004305HP:0002080Intention tremor4CTDP1 CL E G H91502498ORPHA:48431Congenital cataracts-facial dysmorphism-neuropathy syndromeHP:0040281 - Very frequent17
HP:0004305HP:0002080Intention tremor4CWF19L1 CL E G H5528025613ORPHA:453521Autosomal recessive cerebellar ataxia due to CWF19L1 deficiencyHP:0040282 - Frequent9
HP:0004305HP:0002080Intention tremor4CWF19L1 CL E G H5528025613OMIM:616127Spinocerebellar ataxia, autosomal recessive 179
HP:0004305HP:0002599Head titubation4EIF2AK2 CL E G H56109437OMIM:618877LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME; LEUDEN
HP:0004305HP:0002080Intention tremor4ELOVL4 CL E G H678514415OMIM:133190Spinocerebellar ataxia 34HP:0040283 - Occasional62
HP:0004305HP:0002080Intention tremor4EPRS1 CL E G H20583418OMIM:617951Leukodystrophy, hypomyelinating, 15.
HP:0004305HP:0002080Intention tremor4ERCC2 CL E G H20683434ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional106
HP:0004305HP:0002080Intention tremor4ERCC3 CL E G H20713435ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional54
HP:0004305HP:0002080Intention tremor4ERCC6 CL E G H20743438ORPHA:90324Cockayne syndrome type 3HP:0040282 - Frequent199
HP:0004305HP:0002080Intention tremor4ERCC8 CL E G H11613439ORPHA:90324Cockayne syndrome type 3HP:0040282 - Frequent55
HP:0004305HP:0002080Intention tremor4FARS2 CL E G H1066721062ORPHA:466722Autosomal recessive spastic paraplegia type 77HP:0040282 - Frequent36
HP:0004305HP:0002080Intention tremor4FBXO7 CL E G H2579313586ORPHA:171695Parkinsonian-pyramidal syndromeHP:0040282 - Frequent36
HP:0004305HP:0030147Truncal titubation4FLVCR1 CL E G H2898224682ORPHA:88628Posterior column ataxia-retinitis pigmentosa syndromeHP:0040283 - Occasional111
HP:0004305HP:0002080Intention tremor4FMR1 CL E G H23323775OMIM:300623Fragile X tremor/ataxia syndrome30
HP:0004305HP:0002080Intention tremor4FMR1 CL E G H23323775ORPHA:93256Fragile X-associated tremor/ataxia syndromeHP:0040281 - Very frequent30
HP:0004305HP:0002599Head titubation4FUS CL E G H25214010ORPHA:300605Juvenile amyotrophic lateral sclerosisHP:0040283 - Occasional105
HP:0004305HP:0002080Intention tremor4FXN CL E G H23953951ORPHA:95Friedreich ataxiaHP:0040282 - Frequent18
HP:0004305HP:0002080Intention tremor4GJB1 CL E G H27054283ORPHA:1175X-linked progressive cerebellar ataxiaHP:0040282 - Frequent107
HP:0004305HP:0002080Intention tremor4GJC2 CL E G H5716517494OMIM:608804Leukodystrophy, hypomyelinating, 2.37
HP:0004305HP:0002599Head titubation4GJC2 CL E G H5716517494OMIM:608804Leukodystrophy, hypomyelinating, 2.37
HP:0004305HP:0002080Intention tremor4GJC2 CL E G H5716517494OMIM:613206Spastic paraplegia 44, autosomal recessive.37
HP:0004305HP:0002080Intention tremor4GSS CL E G H29374624OMIM:266130Glutathione synthetase deficiency.39
HP:0004305HP:0002080Intention tremor4GTF2E2 CL E G H29614651ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional2
HP:0004305HP:0002080Intention tremor4GTF2H5 CL E G H40467221157ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional3
HP:0004305HP:0002599Head titubation4HIBCH CL E G H262754908ORPHA:88639Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiencyHP:0040284 - Very rare32
HP:0004305HP:0002080Intention tremor4HSD17B4 CL E G H32955213OMIM:233400Perrault syndrome 198
HP:0004305HP:0002080Intention tremor4HYCC1 CL E G H8466824587OMIM:610532Leukodystrophy, hypomyelinating, 5.
HP:0004305HP:0030147Truncal titubation4HYCC1 CL E G H8466824587OMIM:610532Leukodystrophy, hypomyelinating, 5.
HP:0004305HP:0002080Intention tremor4ITM2B CL E G H94456174OMIM:117300Dementia, familial danish.3
HP:0004305HP:0002080Intention tremor4ITPR1 CL E G H37086180OMIM:117360Spinocerebellar ataxia 29.177
HP:0004305HP:0030147Truncal titubation4ITPR1 CL E G H37086180OMIM:117360Spinocerebellar ataxia 29177
HP:0004305HP:0007351Upper limb postural tremor4ITPR1 CL E G H37086180ORPHA:98769Spinocerebellar ataxia type 15/16HP:0040282 - Frequent177
HP:0004305HP:0002080Intention tremor4ITPR1 CL E G H37086180ORPHA:208513Spinocerebellar ataxia type 29HP:0040281 - Very frequent177
HP:0004305HP:0002080Intention tremor4KCNJ10 CL E G H37666256OMIM:612780Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance.121
HP:0004305HP:0002080Intention tremor4KCNK4 CL E G H508016279OMIM:618381Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome
HP:0004305HP:0002080Intention tremor4KCNN2 CL E G H37816291OMIM:619725NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE MOVEMENT OR BEHAVIORAL ABNORMALITIES; NEDMAB
HP:0004305HP:0002080Intention tremor4KIF1C CL E G H107496317ORPHA:397946Autosomal spastic paraplegia type 58HP:0040283 - Occasional38
HP:0004305HP:0002599Head titubation4KIF1C CL E G H107496317OMIM:611302Spastic ataxia 2, autosomal recessive.38
HP:0004305HP:0002080Intention tremor4KNSTRN CL E G H9041730767ORPHA:221139Combined immunodeficiency with faciooculoskeletal anomaliesHP:0040282 - Frequent1
HP:0004305HP:0002599Head titubation4LAMA1 CL E G H2842176481ORPHA:370022Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndromeHP:0040283 - Occasional35
HP:0004305HP:0002080Intention tremor4LEMD2 CL E G H22149621244OMIM:619322MARBACH-RUSTAD PROGEROID SYNDROME; MARUPS1
HP:0004305HP:0002080Intention tremor4LMAN2L CL E G H8156219263OMIM:6178631
HP:0004305HP:0002080Intention tremor4LMNB1 CL E G H40016637ORPHA:99027Adult-onset autosomal dominant leukodystrophyHP:0040283 - Occasional44
HP:0004305HP:0002599Head titubation4LMNB1 CL E G H40016637ORPHA:99027Adult-onset autosomal dominant leukodystrophyHP:0040283 - Occasional44
HP:0004305HP:0007351Upper limb postural tremor4LMNB1 CL E G H40016637ORPHA:99027Adult-onset autosomal dominant leukodystrophyHP:0040283 - Occasional44
HP:0004305HP:0002080Intention tremor4MPLKIP CL E G H13664716002ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional9
HP:0004305HP:0007351Upper limb postural tremor4MPZ CL E G H43597225OMIM:180800Roussy-Levy hereditary areflexic dystasia.134
HP:0004305HP:0002080Intention tremor4MRE11 CL E G H43617230ORPHA:251347Ataxia-telangiectasia-like disorderHP:0040282 - Frequent532
HP:0004305HP:0002080Intention tremor4NFASC CL E G H2311429866OMIM:618356Neurodevelopmental disorder with central and peripheral motor dysfunction.
HP:0004305HP:0002080Intention tremor4NKX2-1 CL E G H708011825ORPHA:209905Brain-lung-thyroid syndromeHP:0040283 - Occasional51
HP:0004305HP:0002599Head titubation4NKX6-2 CL E G H8450419321ORPHA:527497NKX6-2-related autosomal recessive hypomyelinating leukodystrophyHP:0040282 - Frequent2
HP:0004305HP:0002599Head titubation4NKX6-2 CL E G H8450419321OMIM:617560Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy.2
HP:0004305HP:0002080Intention tremor4NONO CL E G H48417871ORPHA:466791Macrocephaly-intellectual disability-left ventricular non compaction syndromeHP:0040283 - Occasional10
HP:0004305HP:0002080Intention tremor4NOP56 CL E G H1052815911ORPHA:276198Spinocerebellar ataxia type 36HP:0040284 - Very rare9
HP:0004305HP:0002080Intention tremor4OPHN1 CL E G H49838148ORPHA:137831X-linked intellectual disability-cerebellar hypoplasia syndromeHP:0040283 - Occasional55
HP:0004305HP:0002080Intention tremor4PEX10 CL E G H51928851OMIM:614871Peroxisome biogenesis disorder 6BHP:0040283 - Occasional75
HP:0004305HP:0002080Intention tremor4PI4KA CL E G H52978983OMIM:619708GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 2; GIDID211
HP:0004305HP:0002599Head titubation4PI4KA CL E G H52978983OMIM:619708GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 2; GIDID211
HP:0004305HP:0002080Intention tremor4PIK3CA CL E G H52908975OMIM:615108Cowden syndrome 5.162
HP:0004305HP:0002080Intention tremor4PIK3CD CL E G H52938977ORPHA:221139Combined immunodeficiency with faciooculoskeletal anomaliesHP:0040282 - Frequent9
HP:0004305HP:0002080Intention tremor4PLA2G6 CL E G H83989039OMIM:610217Neurodegeneration with brain iron accumulation 2B.133
HP:0004305HP:0007351Upper limb postural tremor4PLA2G6 CL E G H83989039OMIM:612953Parkinson disease 14, autosomal recessive133
HP:0004305HP:0002080Intention tremor4PLP1 CL E G H53549086OMIM:312080Pelizaeus-Merzbacher disease60
HP:0004305HP:0002599Head titubation4PLP1 CL E G H53549086OMIM:312080Pelizaeus-Merzbacher disease60
HP:0004305HP:0002080Intention tremor4PMM2 CL E G H53739115OMIM:212065Congenital disorder of glycosylation, type Ia150
HP:0004305HP:0007351Upper limb postural tremor4PMP22 CL E G H53769118OMIM:180800Roussy-Levy hereditary areflexic dystasia.79
HP:0004305HP:0002080Intention tremor4PNPLA6 CL E G H1090816268OMIM:215470Boucher-Neuhauser syndrome.103
HP:0004305HP:0002080Intention tremor4POLG CL E G H54289179OMIM:258450Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive464
HP:0004305HP:0002080Intention tremor4POLR3A CL E G H1112830074ORPHA:447896Tremor-ataxia-central hypomyelination syndromeHP:0040282 - Frequent138
HP:0004305HP:0002080Intention tremor4POLR3A CL E G H1112830074OMIM:264090Wiedemann-Rautenstrauch syndrome.138
HP:0004305HP:0002080Intention tremor4POLR3B CL E G H5570330348OMIM:614381Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism.67
HP:0004305HP:0002080Intention tremor4POU4F1 CL E G H54579218OMIM:619352ATAXIA, INTENTION TREMOR, AND HYPOTONIA SYNDROME, CHILDHOOD-ONSET; ATITHS
HP:0004305HP:0002080Intention tremor4POU4F1 CL E G H54579218ORPHA:314647Non-progressive cerebellar ataxia with intellectual disabilityHP:0040284 - Very rare
HP:0004305HP:0002080Intention tremor4PPP2R2B CL E G H55219305ORPHA:98762Spinocerebellar ataxia type 12HP:0040283 - Occasional5
HP:0004305HP:0002080Intention tremor4PRICKLE1 CL E G H14416517019ORPHA:308Progressive myoclonic epilepsy type 1HP:0040282 - Frequent133
HP:0004305HP:0002080Intention tremor4PSAP CL E G H56609498OMIM:610539Gaucher disease, atypical81
HP:0004305HP:0002080Intention tremor4PSAP CL E G H56609498ORPHA:309271Metachromatic leukodystrophy, adult formHP:0040283 - Occasional81
HP:0004305HP:0002080Intention tremor4PSAP CL E G H56609498ORPHA:309263Metachromatic leukodystrophy, juvenile formHP:0040283 - Occasional81
HP:0004305HP:0002080Intention tremor4PTEN CL E G H57289588OMIM:158350Cowden syndrome 1.948
HP:0004305HP:0002080Intention tremor4QRICH1 CL E G H5487024713OMIM:617982VERVERI-BRADY SYNDROME; VERBRAS
HP:0004305HP:0002080Intention tremor4RARS1 CL E G H59179870OMIM:616140Leukodystrophy, hypomyelinating, 9.
HP:0004305HP:0002080Intention tremor4RARS1 CL E G H59179870ORPHA:438114RARS-related autosomal recessive hypomyelinating leukodystrophyHP:0040282 - Frequent
HP:0004305HP:0002080Intention tremor4RFC1 CL E G H59819969ORPHA:504476Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndromeHP:0040282 - Frequent
HP:0004305HP:0002080Intention tremor4RNF113A CL E G H773712974ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional3
HP:0004305HP:0002080Intention tremor4RNU12 CL E G H26701019380ORPHA:512260Congenital cerebellar ataxia due to RNU12 mutationHP:0040282 - Frequent
HP:0004305HP:0002080Intention tremor4SACS CL E G H2627810519ORPHA:98Autosomal recessive spastic ataxia of Charlevoix-SaguenayHP:0040283 - Occasional309
HP:0004305HP:0002080Intention tremor4SCARB2 CL E G H9501665OMIM:254900Epilepsy, progressive myoclonic, 4, with or without renal failure.77
HP:0004305HP:0002080Intention tremor4SCARB2 CL E G H9501665ORPHA:308Progressive myoclonic epilepsy type 1HP:0040282 - Frequent77
HP:0004305HP:0002080Intention tremor4SCP2 CL E G H634210606OMIM:613724Leukoencephalopathy with dystonia and motor neuropathy.4
HP:0004305HP:0002080Intention tremor4SCYL1 CL E G H5741014372ORPHA:466794Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndromeHP:0040282 - Frequent5
HP:0004305HP:0002080Intention tremor4SEMA6B CL E G H1050110739OMIM:618876EPILEPSY, PROGRESSIVE MYOCLONIC, 11; EPM11
HP:0004305HP:0002599Head titubation4SIGMAR1 CL E G H102808157ORPHA:300605Juvenile amyotrophic lateral sclerosisHP:0040283 - Occasional6
HP:0004305HP:0030147Truncal titubation4SLC19A3 CL E G H8070416266OMIM:607483Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2)110
HP:0004305HP:0002080Intention tremor4SLC25A46 CL E G H9113725198OMIM:616505Neuropathy, hereditary motor and sensory, type VIB14
HP:0004305HP:0002080Intention tremor4SMG9 CL E G H5600625763OMIM:6199952
HP:0004305HP:0002080Intention tremor4SNCA CL E G H662211138ORPHA:171695Parkinsonian-pyramidal syndromeHP:0040282 - Frequent65
HP:0004305HP:0002599Head titubation4SPG11 CL E G H8020811226ORPHA:300605Juvenile amyotrophic lateral sclerosisHP:0040283 - Occasional287
HP:0004305HP:0002080Intention tremor4SPTBN1 CL E G H671111275OMIM:619475DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0004305HP:0002599Head titubation4SPTBN1 CL E G H671111275OMIM:619475DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0004305HP:0002080Intention tremor4SPTBN2 CL E G H671211276ORPHA:352403Spectrin-associated autosomal recessive cerebellar ataxiaHP:0040283 - Occasional126
HP:0004305HP:0002080Intention tremor4SPTBN2 CL E G H671211276OMIM:600224Spinocerebellar ataxia 5.126
HP:0004305HP:0002080Intention tremor4SPTBN2 CL E G H671211276OMIM:615386Spinocerebellar ataxia, autosomal recessive 14.126
HP:0004305HP:0002599Head titubation4SPTLC1 CL E G H1055811277ORPHA:300605Juvenile amyotrophic lateral sclerosisHP:0040283 - Occasional54
HP:0004305HP:0002080Intention tremor4TARS1 CL E G H689711572ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional
HP:0004305HP:0002080Intention tremor4TBP CL E G H690811588OMIM:607136Spinocerebellar ataxia 17.7
HP:0004305HP:0002080Intention tremor4TECR CL E G H95244551OMIM:614020Mental retardation, autosomal recessive 1417
HP:0004305HP:0002080Intention tremor4TENM4 CL E G H2601129945OMIM:616736Tremor, hereditary essential, 55
HP:0004305HP:0002080Intention tremor4TGM6 CL E G H34364116255OMIM:613908Spinocerebellar ataxia 35.58
HP:0004305HP:0002080Intention tremor4TGM6 CL E G H34364116255ORPHA:276193Spinocerebellar ataxia type 35HP:0040282 - Frequent58
HP:0004305HP:0030147Truncal titubation4THG1L CL E G H5497426053OMIM:618800SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 28; SCAR28
HP:0004305HP:0002080Intention tremor4TMCO1 CL E G H5449918188OMIM:213980Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome6
HP:0004305HP:0002080Intention tremor4TMEM106B CL E G H5466422407OMIM:617964Leukodystrophy, hypomyelinating, 16.
HP:0004305HP:0002080Intention tremor4TMEM240 CL E G H33945325186OMIM:607454Spinocerebellar ataxia 219
HP:0004305HP:0002080Intention tremor4TMEM63A CL E G H972529118OMIM:618688LEUKODYSTROPHY, HYPOMYELINATING, 19, TRANSIENT INFANTILE; HLD19
HP:0004305HP:0002599Head titubation4TMEM63A CL E G H972529118OMIM:618688LEUKODYSTROPHY, HYPOMYELINATING, 19, TRANSIENT INFANTILE; HLD19
HP:0004305HP:0002080Intention tremor4TMEM70 CL E G H5496826050OMIM:614052Mitochondrial complex V (atp synthase) deficiency, nuclear type 2.63
HP:0004305HP:0002080Intention tremor4TPK1 CL E G H2701017358OMIM:614458Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type)21
HP:0004305HP:0007351Upper limb postural tremor4TUBB4A CL E G H1038220774ORPHA:98805Primary dystonia, DYT4 typeHP:0040283 - Occasional66
HP:0004305HP:0002080Intention tremor4UCHL1 CL E G H734512513OMIM:615491Spastic paraplegia 79, autosomal recessiveHP:0040283 - Occasional21
HP:0004305HP:0002599Head titubation4UCHL1 CL E G H734512513OMIM:615491Spastic paraplegia 79, autosomal recessive.21
HP:0004305HP:0002080Intention tremor4UFC1 CL E G H5150626941OMIM:618076Neurodevelopmental disorder with spasticity and poor growth.
HP:0004305HP:0002080Intention tremor4VLDLR CL E G H743612698OMIM:224050Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1.111
HP:0004305HP:0002599Head titubation4VPS13A CL E G H232301908ORPHA:2388ChoreoacanthocytosisHP:0040283 - Occasional130
HP:0004305HP:0002080Intention tremor4VWA3B CL E G H20040328385OMIM:616948Spinocerebellar ataxia, autosomal recessive 221


Genes (1125) :AARS1 AARS2 AASS ABCA7 ABCB11 ABCB4 ABCB6 ABCB7 ABCC8 ABCD1 ABHD12 ABHD16A ACAT2 ACBD5 ACO2 ACP5 ACTL6B ADA2 ADAMTS13 ADAR ADCY5 ADGRG1 ADGRL1 ADGRV1 ADH1C ADNP ADPRS ADRA2B ADSL AFF2 AFF3 AFG3L2 AGTPBP1 AHI1 AIFM1 AKT1 AKT3 ALDH18A1 ALKBH8 ALS2 AMACR AMPD2 AMT ANO10 ANO3 ANOS1 ANXA11 AP1S2 AP2M1 AP3B2 AP4B1 AP4E1 AP4M1 AP4S1 AP5Z1 APC2 APOE APP APTX AR ARID2 ARL13B ARL3 ARMC9 ARPC4 ARSA ARV1 ARX ASAH1 ASH1L ASXL3 ATAD1 ATCAY ATG7 ATL1 ATM ATN1 ATP11A ATP13A2 ATP1A2 ATP1A3 ATP2B3 ATP5MK ATP6 ATP6AP2 ATP6V0A1 ATP6V1A ATP6V1B2 ATP7A ATP7B ATP8B1 ATRX ATXN1 ATXN10 ATXN2 ATXN3 ATXN7 ATXN8 ATXN8OS AUH AUTS2 B9D1 B9D2 BAP1 BAZ1B BCL7B BCORL1 BCR BEAN1 BICD2 BICRA BOLA3 BRAF BRAT1 BSCL2 BUD23 C19ORF12 C9ORF72 CA8 CABP4 CACNA1A CACNA1B CACNA1C CACNA1D CACNA1E CACNA1G CACNA1H CACNA1S CACNA2D1 CACNA2D2 CACNB4 CAMK2A CAMTA1 CAPN1 CARS1 CARS2 CASK CASR CASZ1 CAV1 CBY1 CC2D2A CCDC141 CCDC88A CCDC88C CCNF CCT5 CD28 CD40LG CDC42BPB CDH23 CDK19 CDKL5 CELF2 CEP104 CEP120 CEP126 CEP152 CEP41 CEP85L CERS1 CERT1 CHAMP1 CHCHD10 CHCHD2 CHD1 CHD2 CHD3 CHD7 CHD8 CHKA CHMP1A CHMP2B CHRNA2 CHRNA4 CHRNB2 CIC CILK1 CIZ1 CLCN2 CLCN3 CLCN4 CLCN7 CLIP2 CLN3 CLN5 CLN6 CLN8 CLPB CLTC CNKSR2 CNPY3 CNTN2 CNTNAP2 COA7 COG8 COL25A1 COL6A3 COQ2 COQ5 COQ8A COX1 COX2 COX20 COX3 COX4I1 CP CPLANE1 CPLX1 CRAT CRB1 CREBBP CRH CRKL CSPP1 CSTB CTBP1 CTC1 CTDP1 CTH CTLA4 CTNND2 CTSF CUL4B CUX2 CWF19L1 CYB5A CYB5R3 CYFIP2 CYP27A1 CYP7B1 CYTB DAB1 DALRD3 DARS2 DCAF17 DCC DCTN1 DDC DDOST DDX6 DEAF1 DENND5A DEPDC5 DHDDS DHFR DHPS DHX30 DLAT DLL1 DLST DMXL2 DNAJC13 DNAJC19 DNAJC30 DNAJC5 DNAJC6 DNM1 DNM1L DNMT1 DNMT3A DOCK7 DPAGT1 DPF2 DPM1 DPYSL5 DRD2 DRD3 DTYMK DUSP6 DYRK1A DYSF EBF3 EEF1A2 EFHC1 EGR2 EHMT1 EIF2AK2 EIF4G1 EIF4H ELN ELOVL1 ELOVL4 ELOVL5 ELP2 EMC10 EMILIN1 EP300 EPAS1 EPM2A EPRS1 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6 ERCC8 ERGIC1 ERLIN1 ERLIN2 EXOSC3 EXOSC8 EXOSC9 EXT2 EXTL3 FA2H FAM149B1 FAR1 FARS2 FBXL4 FBXO28 FBXO38 FBXO7 FBXW11 FEZF1 FGF12 FGF13 FGF14 FGF17 FGF8 FGFR1 FGFRL1 FH FKBP6 FKRP FLCN FLII FLRT3 FLVCR1 FMR1 FOXG1 FOXP1 FOXRED1 FRMD5 FRMPD4 FRRS1L FTL FUS FXN FXR1 FZR1 GABBR2 GABRA1 GABRA2 GABRA3 GABRA5 GABRB2 GABRB3 GABRD GABRG2 GALC GALT GAMT GATAD2B GBA1 GBA2 GCDH GCH1 GCK GCSH GFAP GFM2 GGT1 GIGYF2 GJA5 GJA8 GJB1 GJC2 GLA GLDC GLRA1 GLRB GLRX5 GLUD2 GLYCTK GM2A GMPPB GNA11 GNAI1 GNAO1 GNAS GNB1 GNB2 GON7 GOSR2 GPAA1 GPHN GPR88 GPT2 GRIA1 GRIA2 GRIA3 GRIA4 GRIK2 GRIN1 GRIN2A GRIN2B GRIN2D GRM1 GRM7 GRN GSS GTF2E2 GTF2H5 GTF2I GTF2IRD1 GTF2IRD2 GTPBP2 GUCY2D GUF1 H4C5 HCFC1 HCN1 HDAC4 HDC HECW2 HERC2 HESX1 HEXB HIBCH HIKESHI HINT1 HLA-DQB1 HMBS HMGA2 HMGCL HNF4A HNRNPA1 HNRNPA2B1 HNRNPH2 HNRNPR HNRNPU HPCA HPRT1 HS6ST1 HSD17B10 HSD17B4 HSPB1 HSPD1 HSPG2 HTRA2 HTT HUWE1 HYCC1 HYLS1 IFIH1 IFNG IFRD1 IL17RD IMPDH2 INPP5E IQSEC2 IREB2 IRF2BPL IRF4 ITM2B ITPA ITPR1 JAG1 JPH3 JRK KAT5 KAT6A KATNIP KCNA1 KCNA2 KCNAB2 KCNB1 KCNC1 KCNC2 KCNC3 KCND3 KCNJ10 KCNJ18 KCNK4 KCNK9 KCNMA1 KCNN2 KCNQ2 KCNQ3 KCNT1 KCTD17 KCTD7 KDM1A KIAA0586 KIAA0753 KIF15 KIF1A KIF1B KIF1C KIF5A KIF5C KIF7 KLC2 KMT2A KMT2B KMT5B KNSTRN KPNA3 KPTN KYNU LAMA1 LARP7 LEMD2 LEMD3 LETM1 LGI3 LIAS LIG3 LIMK1 LMAN2L LMNB1 LMNB2 LNPK LRP12 LRPPRC LRRK2 LRSAM1 LSM11 LUZP1 LYST MACF1 MADD MAG MAN1B1 MAOA MAPK1 MAPK10 MAPT MARCHF6 MARS1 MAX MBD5 MDH2 MECP2 MECR MED17 MED23 MEF2C MEGF10 MEN1 METTL27 MFN2 MGAT2 MICOS13 MICU1 MINPP1 MKS1 MLXIPL MMAA MMACHC MME MMP23B MMUT MOCS1 MOCS2 MORC2 MPLKIP MPZ MRE11 MRM2 MRPL12 MRPS34 MSTO1 MTFMT MTOR MTPAP MTRFR MYBPC1 MYH14 MYL2 MYO5A MYORG MYOT NAA10 NAA15 NAA20 NACC1 NADK2 NAGA NAGS NAPB NARS1 NAT8L NAXD NAXE NCF1 ND1 ND2 ND3 ND4 ND4L ND5 ND6 NDE1 NDNF NDP NDRG1 NDUFA1 NDUFA13 NDUFA4 NDUFA9 NDUFAF3 NDUFAF5 NDUFB8 NDUFS2 NDUFS4 NDUFS8 NDUFV1 NECAP1 NEFH NEFL NEMF NEU1 NEUROD2 NEXMIF NF1 NF2 NFASC NFE2L2 NFU1 NGLY1 NHLRC1 NHLRC2 NIPA1 NKX2-1 NKX6-2 NLGN3 NLGN4X NMNAT1 NOL3 NONO NOP56 NOTCH2NLC NOVA2 NPC2 NPHP1 NR1H4 NR2F1 NR4A2 NSD1 NSD2 NTNG1 NTNG2 NTRK2 NUP214 NUP62 NUS1 NUTM2B-AS1 OCA2 OCRL OFD1 OPA1 OPA3 OPHN1 OPTN OSTM1 OXR1 PAH PANK2 PARK7 PARS2 PC PCBD1 PCDH19 PDE10A PDE2A PDE6D PDGFB PDGFRB PDHA1 PDK3 PDPN PDYN PDZD8 PET100 PEX10 PEX16 PEX2 PEX6 PFN1 PGAP1 PGAP2 PGAP3 PGK1 PGM3 PHACTR1 PHGDH PHIP PI4KA PIBF1 PIGA PIGL PIGN PIGO PIGP PIGQ PIGT PIGV PIGW PIGY PIK3CA PIK3CD PIK3R5 PINK1 PITRM1 PITX3 PLA2G6 PLCB1 PLP1 PLPBP PMM2 PMP2 PMP22 PMPCA PNKD PNKP PNP PNPLA2 PNPLA6 PNPO PNPT1 PODXL POGZ POLA1 POLG POLG2 POLR1C POLR3A POLR3B POLR3K POMGNT1 POMK POMT1 POMT2 POU3F3 POU3F4 POU4F1 PPP1R15B PPP2R2B PPP2R5D PPP3CA PPT1 PRDM16 PRDM8 PRDX1 PRDX3 PRICKLE1 PRKAR1B PRKCG PRKCZ PRKN PRKRA PRNP PRODH PROK2 PROKR2 PRORP PRPH PRPS1 PRRT2 PRUNE1 PRX PSAP PSAT1 PSEN1 PSEN2 PSMC1 PTCD3 PTCHD1 PTEN PTH PTS PUF60 PUM1 PURA PUS7 PYCR1 QDPR QRICH1 RAB11B RAB18 RAB39B RAB3GAP2 RAB7A RAC1 RAI1 RAPGEF2 RARS1 RBL2 REEP1 REEP2 RERE RET RFC1 RFC2 RFT1 RHOBTB2 RILPL1 RLIM RMND1 RNASEH2A RNASEH2B RNASEH2C RNASET2 RNF113A RNU12 RNU7-1 RORA RORB RPE65 RPGRIP1L RPL10 RRM2B RTN2 RTTN RUSC2 RYR1 SACS SAMD12 SAMD9L SAMHD1 SATB1 SBF2 SC5D SCARB2 SCN1A SCN1B SCN2A SCN3A SCN4A SCN8A SCN9A SCO2 SCP2 SCYL1 SCYL2 SDHA SDHAF2 SDHB SDHC SDHD SELENOI SEMA3A SEMA6B SEPSECS SERPINI1 SETD2 SETX SFXN4 SGCE SH2B1 SH3TC2 SHANK3 SHMT2 SHQ1 SIGMAR1 SIK1 SKI SLC12A6 SLC13A5 SLC16A2 SLC17A5 SLC18A2 SLC19A3 SLC1A2 SLC1A3 SLC1A4 SLC20A2 SLC25A10 SLC25A11 SLC25A12 SLC25A13 SLC25A15 SLC25A21 SLC25A22 SLC25A4 SLC25A42 SLC25A46 SLC2A1 SLC2A3 SLC30A10 SLC30A9 SLC33A1 SLC38A3 SLC39A14 SLC39A4 SLC44A1 SLC46A1 SLC52A2 SLC52A3 SLC5A7 SLC6A1 SLC6A17 SLC6A3 SLC6A5 SLC6A8 SLC6A9 SLC7A6OS SLC9A1 SLC9A6 SLITRK1 SMARCA2 SMARCB1 SMARCE1 SMC1A SMG9 SMN1 SMN2 SMO SMPD1 SMS SNCA SNCAIP SNORD118 SNRPN SNX10 SOD1 SORL1 SOX10 SOX5 SPART SPAST SPATA5 SPEN SPG11 SPOP SPR SPRY4 SPTAN1 SPTBN1 SPTBN2 SPTBN4 SPTLC1 SQSTM1 ST3GAL3 ST3GAL5 STAMBP STARD7 STUB1 STX16 STX1A STX1B STXBP1 SUCLA2 SUCLG1 SUFU SUOX SURF1 SYNE1 SYNGAP1 SYNJ1 SYT1 SYT2 SZT2 TACR3 TAF1 TANC2 TANGO2 TAOK1 TARDBP TARS1 TAT TBC1D23 TBC1D24 TBCD TBK1 TBL2 TBP TBR1 TBX1 TCF20 TCF4 TCIRG1 TCTN1 TCTN2 TCTN3 TECR TENM4 TERT TFE3 TFG TGM6 TH THAP1 THG1L THOC2 TIMM50 TIMM8A TIMMDC1 TK2 TKT TLR7 TMCO1 TMEM106B TMEM127 TMEM216 TMEM218 TMEM222 TMEM231 TMEM237 TMEM240 TMEM270 TMEM63A TMEM67 TMEM70 TNFAIP3 TNFRSF1B TNFSF11 TNNT1 TNPO2 TNR TNRC6A TOE1 TOGARAM1 TOMM40 TOPORS TOR1A TPI1 TPK1 TPP1 TRAF7 TRAK1 TRAPPC11 TRAPPC12 TRAPPC6B TRAPPC9 TREM2 TREX1 TRIM8 TRIO TRMT5 TRNF TRNH TRNI TRNK TRNL1 TRNP TRNQ TRNS1 TRNS2 TRNT TRNV TRNW TSC1 TSC2 TSEN15 TSEN2 TSEN34 TSEN54 TSFM TSHR TSPOAP1 TSPYL1 TTC19 TTI2 TTPA TTR TUBB3 TUBB4A TWNK TXN2 TYROBP UBA1 UBA5 UBAP1 UBE3A UBE4B UBQLN2 UBTF UCHL1 UFC1 UGDH UGT1A1 UQCRC1 UQCRQ UROC1 USP8 VAMP1 VAMP2 VAPB VARS1 VCP VHL VLDLR VPS13A VPS13C VPS13D VPS35 VPS37A VPS37D VPS41 VPS4A VPS53 VRK1 VWA1 VWA3B WARS2 WASHC5 WDR11 WDR26 WDR4 WDR45 WDR81 WFS1 WWOX XK XPA XPNPEP3 XPR1 YEATS2 YRDC YWHAG YY1 ZBTB18 ZBTB20 ZEB2 ZFR ZFYVE26 ZFYVE27 ZMYM2 ZNF142 ZNF526 ZNHIT3 ZSWIM6

Diseases (1243) :OMIM:616339 ORPHA:442835 OMIM:619691 OMIM:615889 ORPHA:2203 ORPHA:3124 ORPHA:1020 ORPHA:69665 OMIM:609153 OMIM:301310 OMIM:618857 ORPHA:139396 OMIM:612674 OMIM:619735 OMIM:614055 OMIM:618863 OMIM:614559 ORPHA:1855 ORPHA:820 OMIM:182410 OMIM:274150 ORPHA:51 OMIM:615010 ORPHA:225154 OMIM:619647 OMIM:606703 ORPHA:324588 OMIM:619651 OMIM:606854 OMIM:620065 ORPHA:36387 OMIM:168600 OMIM:615873 OMIM:618170 ORPHA:86814 OMIM:103050 ORPHA:100973 OMIM:309548 OMIM:619297 ORPHA:313772 OMIM:614487 ORPHA:101109 OMIM:618276 ORPHA:2254 ORPHA:475 ORPHA:220493 OMIM:300816 ORPHA:83629 ORPHA:238329 ORPHA:101078 OMIM:615109 ORPHA:2495 ORPHA:99802 ORPHA:447753 ORPHA:447757 ORPHA:447760 OMIM:219150 OMIM:601162 OMIM:616586 OMIM:618504 OMIM:205100 ORPHA:300605 OMIM:614307 ORPHA:79095 OMIM:615809 OMIM:615686 OMIM:605899 ORPHA:284289 OMIM:613728 ORPHA:420485 OMIM:615034 ORPHA:478 OMIM:619733 OMIM:304340 OMIM:618587 ORPHA:1942 ORPHA:280763 ORPHA:306511 ORPHA:821 OMIM:607822 ORPHA:324708 OMIM:208920 OMIM:313200 OMIM:617808 OMIM:620141 OMIM:250100 ORPHA:309271 ORPHA:309263 OMIM:308350 ORPHA:1934 ORPHA:3451 ORPHA:333 OMIM:159950 ORPHA:2590 OMIM:617796 ORPHA:352577 OMIM:615485 ORPHA:3197 OMIM:618011 OMIM:601238 ORPHA:94122 OMIM:619422 ORPHA:100984 ORPHA:100 OMIM:208900 ORPHA:101 OMIM:125370 OMIM:619851 ORPHA:314632 ORPHA:306674 OMIM:606693 OMIM:617225 ORPHA:2131 OMIM:104290 ORPHA:569 OMIM:602481 OMIM:614820 OMIM:619606 OMIM:128235 ORPHA:71517 OMIM:302500 ORPHA:314978 OMIM:618683 ORPHA:104 OMIM:535000 ORPHA:255210 ORPHA:644 OMIM:300423 OMIM:300911 ORPHA:93952 ORPHA:363654 OMIM:619971 ORPHA:79500 ORPHA:565 OMIM:277900 OMIM:301040 OMIM:164400 ORPHA:98755 OMIM:603516 ORPHA:98761 OMIM:183090 ORPHA:98756 OMIM:109150 ORPHA:276238 ORPHA:276241 ORPHA:276244 OMIM:164500 OMIM:608768 OMIM:250950 ORPHA:352490 ORPHA:904 OMIM:301029 ORPHA:261330 ORPHA:217012 OMIM:615290 OMIM:619325 OMIM:614299 OMIM:115150 OMIM:618056 OMIM:614498 ORPHA:100998 OMIM:615924 ORPHA:363400 OMIM:270685 ORPHA:289560 OMIM:614298 ORPHA:275864 ORPHA:275872 ORPHA:401901 OMIM:613227 ORPHA:98784 OMIM:617106 ORPHA:2382 OMIM:141500 ORPHA:98758 OMIM:618497 OMIM:620029 OMIM:615474 ORPHA:369929 OMIM:618285 OMIM:616795 ORPHA:458803 ORPHA:64280 ORPHA:79102 OMIM:618501 OMIM:607682 OMIM:613855 ORPHA:307 OMIM:617798 OMIM:614756 ORPHA:314647 ORPHA:488594 OMIM:618891 ORPHA:33364 ORPHA:477774 OMIM:616672 ORPHA:428 ORPHA:1606 OMIM:606721 ORPHA:1454 OMIM:617507 OMIM:616053 ORPHA:423275 OMIM:619141 ORPHA:139578 OMIM:256840 ORPHA:3162 OMIM:308230 OMIM:619841 ORPHA:91347 OMIM:618916 ORPHA:3095 ORPHA:505652 OMIM:300672 OMIM:619561 OMIM:619988 ORPHA:65684 OMIM:614852 ORPHA:572013 OMIM:616230 OMIM:616351 OMIM:616579 ORPHA:276435 OMIM:615048 OMIM:616710 ORPHA:529965 OMIM:618205 OMIM:615032 OMIM:620023 OMIM:614961 OMIM:600795 OMIM:617600 ORPHA:420492 OMIM:615651 OMIM:619512 ORPHA:485350 ORPHA:667 OMIM:204200 OMIM:256731 ORPHA:228360 OMIM:204300 OMIM:600143 ORPHA:445038 OMIM:616271 OMIM:617854 OMIM:615400 ORPHA:163681 OMIM:610042 OMIM:618387 ORPHA:95428 ORPHA:1143 OMIM:616411 ORPHA:464440 OMIM:607426 OMIM:146500 ORPHA:227510 ORPHA:98933 OMIM:619028 ORPHA:139485 OMIM:612016 ORPHA:550 OMIM:619054 OMIM:619060 ORPHA:48818 OMIM:604290 ORPHA:2754 ORPHA:352582 OMIM:194190 OMIM:617917 OMIM:613835 ORPHA:353281 ORPHA:353277 OMIM:254800 ORPHA:308 OMIM:612199 OMIM:604168 ORPHA:48431 ORPHA:212 OMIM:615362 OMIM:300354 ORPHA:85293 OMIM:618141 ORPHA:453521 OMIM:616127 ORPHA:621 ORPHA:909 OMIM:213700 ORPHA:100986 OMIM:270800 OMIM:615945 ORPHA:363710 ORPHA:137898 OMIM:611105 OMIM:241080 ORPHA:3464 OMIM:105400 ORPHA:178509 OMIM:168605 OMIM:608643 ORPHA:300536 OMIM:618653 OMIM:617171 ORPHA:468620 ORPHA:819 OMIM:617281 OMIM:617836 OMIM:613839 OMIM:618480 OMIM:617804 OMIM:245348 OMIM:618709 ORPHA:29072 ORPHA:411602 ORPHA:66634 OMIM:162350 ORPHA:391411 OMIM:615528 ORPHA:2828 ORPHA:330050 OMIM:614388 ORPHA:314404 ORPHA:276621 ORPHA:411986 OMIM:608093 ORPHA:86309 OMIM:618027 OMIM:608799 OMIM:619435 ORPHA:36899 OMIM:190300 OMIM:619847 ORPHA:268261 ORPHA:464311 OMIM:614104 ORPHA:268 OMIM:617330 OMIM:616393 ORPHA:1941 OMIM:254770 OMIM:145900 OMIM:610253 OMIM:618877 OMIM:614251 OMIM:618527 OMIM:133190 ORPHA:423296 OMIM:617270 OMIM:619264 OMIM:620080 ORPHA:353284 ORPHA:501 OMIM:254780 OMIM:617951 OMIM:278730 ORPHA:90321 OMIM:278760 OMIM:278780 ORPHA:90324 OMIM:133540 OMIM:278800 OMIM:216400 ORPHA:401785 OMIM:615681 ORPHA:209951 ORPHA:280384 OMIM:614678 OMIM:616081 OMIM:618065 OMIM:616682 ORPHA:508533 ORPHA:171629 OMIM:612319 ORPHA:466722 OMIM:614946 OMIM:615471 OMIM:619777 OMIM:615575 OMIM:260300 ORPHA:171695 OMIM:618914 OMIM:301058 OMIM:193003 ORPHA:98764 ORPHA:370959 OMIM:610883 ORPHA:88628 OMIM:300624 OMIM:300623 ORPHA:93256 ORPHA:449291 ORPHA:261144 OMIM:613454 ORPHA:391372 OMIM:613670 OMIM:618241 OMIM:620094 OMIM:300983 OMIM:616981 OMIM:606159 ORPHA:157846 OMIM:608030 OMIM:614782 ORPHA:95 OMIM:618823 OMIM:618822 ORPHA:33069 OMIM:618557 OMIM:617829 ORPHA:206436 ORPHA:206443 ORPHA:79239 OMIM:612736 ORPHA:382 OMIM:615074 ORPHA:363686 OMIM:231000 ORPHA:352641 ORPHA:320391 OMIM:614409 OMIM:231670 ORPHA:25 ORPHA:98808 OMIM:128230 OMIM:233910 ORPHA:79299 OMIM:203450 ORPHA:363717 ORPHA:363722 ORPHA:565624 OMIM:618397 OMIM:231950 OMIM:607688 OMIM:612474 OMIM:302800 ORPHA:101075 ORPHA:1175 OMIM:608804 OMIM:613206 OMIM:301500 OMIM:149400 OMIM:614619 ORPHA:401866 OMIM:220120 ORPHA:941 ORPHA:309246 OMIM:272750 OMIM:619854 OMIM:615473 OMIM:617493 ORPHA:79443 ORPHA:94089 ORPHA:79444 OMIM:616973 OMIM:619503 OMIM:619603 OMIM:614018 OMIM:617810 ORPHA:529665 OMIM:616939 ORPHA:477673 OMIM:619927 OMIM:618917 OMIM:300699 ORPHA:364028 OMIM:617864 OMIM:611092 OMIM:619580 ORPHA:208447 OMIM:619814 OMIM:614254 OMIM:617820 ORPHA:289266 OMIM:616139 OMIM:613970 OMIM:614831 OMIM:607485 OMIM:266130 OMIM:617988 OMIM:204000 OMIM:617065 OMIM:619950 OMIM:309541 ORPHA:1001 OMIM:137580 OMIM:617268 OMIM:615516 OMIM:268800 ORPHA:309169 ORPHA:309155 ORPHA:309162 OMIM:250620 ORPHA:88639 OMIM:616881 ORPHA:324442 OMIM:137200 OMIM:123400 ORPHA:79276 ORPHA:94063 ORPHA:20 OMIM:246450 ORPHA:263455 ORPHA:52430 OMIM:300986 OMIM:620073 OMIM:617391 OMIM:224500 ORPHA:99657 OMIM:300322 ORPHA:391428 OMIM:300438 OMIM:233400 ORPHA:99940 OMIM:606595 OMIM:612233 OMIM:617248 OMIM:610297 OMIM:143100 ORPHA:399 ORPHA:248111 OMIM:617435 OMIM:309590 OMIM:610532 ORPHA:805 ORPHA:98771 OMIM:213300 ORPHA:397933 OMIM:618451 OMIM:618088 ORPHA:3452 OMIM:176500 OMIM:117300 OMIM:616647 OMIM:206700 OMIM:606658 OMIM:117360 ORPHA:98769 ORPHA:208513 OMIM:619574 ORPHA:98934 OMIM:606438 OMIM:619103 OMIM:616268 ORPHA:37612 OMIM:160120 ORPHA:98809 OMIM:616366 OMIM:616056 OMIM:616187 OMIM:619913 OMIM:605259 ORPHA:98768 OMIM:607346 ORPHA:199343 OMIM:612780 OMIM:613239 OMIM:618381 ORPHA:166108 ORPHA:79137 OMIM:609446 OMIM:619724 OMIM:619725 ORPHA:306 ORPHA:1949 OMIM:614959 OMIM:616398 ORPHA:263516 ORPHA:477993 ORPHA:261323 OMIM:610357 OMIM:256700 ORPHA:397946 OMIM:611302 ORPHA:100991 OMIM:617235 OMIM:604187 OMIM:615282 OMIM:609541 ORPHA:319182 OMIM:617284 OMIM:617788 ORPHA:221139 ORPHA:171612 ORPHA:397612 OMIM:615637 ORPHA:79155 ORPHA:370022 ORPHA:319671 OMIM:619322 OMIM:620007 OMIM:614462 OMIM:619780 OMIM:617863 ORPHA:99027 OMIM:619179 OMIM:616540 OMIM:618090 OMIM:164310 ORPHA:70472 OMIM:220111 OMIM:607060 OMIM:614436 ORPHA:167 OMIM:214500 OMIM:618325 OMIM:619005 ORPHA:459056 ORPHA:397941 OMIM:300615 ORPHA:240071 OMIM:172700 ORPHA:240103 ORPHA:240085 OMIM:260540 OMIM:601104 OMIM:613608 ORPHA:401835 ORPHA:228402 OMIM:156200 OMIM:300496 OMIM:300673 OMIM:300260 OMIM:300055 OMIM:312750 ORPHA:778 ORPHA:3077 OMIM:617282 ORPHA:508093 OMIM:613668 OMIM:614249 ORPHA:228384 OMIM:613443 OMIM:614399 ORPHA:97279 ORPHA:99947 OMIM:609260 OMIM:212066 ORPHA:79329 ORPHA:67047 OMIM:615673 ORPHA:401768 ORPHA:284339 OMIM:251100 OMIM:277400 OMIM:617018 ORPHA:79312 ORPHA:289916 OMIM:252150 OMIM:252160 ORPHA:466768 OMIM:616688 ORPHA:3115 OMIM:180800 ORPHA:251347 OMIM:604391 OMIM:618567 OMIM:618951 OMIM:617664 ORPHA:502423 OMIM:617675 OMIM:614947 ORPHA:254343 OMIM:615035 OMIM:618524 OMIM:614369 ORPHA:397744 OMIM:619424 ORPHA:33445 OMIM:618317 OMIM:182920 OMIM:300855 OMIM:617787 OMIM:619717 OMIM:617393 ORPHA:500545 OMIM:616034 ORPHA:431361 ORPHA:79279 OMIM:609241 ORPHA:927 OMIM:620033 OMIM:619092 OMIM:614063 OMIM:618321 OMIM:617186 OMIM:605013 ORPHA:649 ORPHA:99950 OMIM:301020 OMIM:618249 OMIM:619065 OMIM:618247 ORPHA:70474 OMIM:618240 OMIM:618238 OMIM:252010 OMIM:618222 OMIM:618225 ORPHA:101085 OMIM:607734 OMIM:619099 ORPHA:93400 ORPHA:93399 OMIM:256550 ORPHA:812 OMIM:300912 ORPHA:85277 OMIM:618356 OMIM:617744 OMIM:605711 ORPHA:404454 OMIM:615273 OMIM:618278 ORPHA:100988 OMIM:600363 ORPHA:209905 OMIM:118700 OMIM:610978 ORPHA:527497 OMIM:617560 OMIM:300494 OMIM:300425 OMIM:300497 OMIM:300495 OMIM:608553 OMIM:614937 ORPHA:466791 OMIM:300967 OMIM:614153 ORPHA:276198 OMIM:603472 OMIM:619473 OMIM:618866 OMIM:618859 OMIM:607625 ORPHA:220497 ORPHA:401777 OMIM:619911 OMIM:619695 OMIM:618718 OMIM:617830 OMIM:613886 OMIM:618426 OMIM:271930 OMIM:617831 OMIM:618637 ORPHA:98794 OMIM:309000 ORPHA:534 ORPHA:2750 OMIM:210000 OMIM:258501 ORPHA:67036 OMIM:165300 OMIM:300486 ORPHA:137831 OMIM:613435 OMIM:259720 OMIM:213000 ORPHA:79254 ORPHA:216873 OMIM:234200 OMIM:606324 OMIM:266150 OMIM:264070 ORPHA:1578 ORPHA:494541 OMIM:616921 ORPHA:494526 OMIM:616922 ORPHA:31709 OMIM:619150 OMIM:213600 OMIM:615483 OMIM:312170 OMIM:300905 ORPHA:352675 OMIM:610245 OMIM:620021 OMIM:619055 OMIM:614871 OMIM:614877 OMIM:614867 ORPHA:95433 OMIM:614808 ORPHA:401820 OMIM:615802 ORPHA:247262 OMIM:615716 ORPHA:713 OMIM:615816 ORPHA:443811 ORPHA:79351 ORPHA:589905 OMIM:619708 OMIM:619621 OMIM:301072 ORPHA:280633 OMIM:614080 OMIM:617599 OMIM:615398 OMIM:239300 OMIM:615108 ORPHA:64753 OMIM:605909 OMIM:619405 OMIM:610623 ORPHA:199351 OMIM:610217 OMIM:612953 OMIM:312080 ORPHA:280219 ORPHA:280210 OMIM:617290 OMIM:212065 OMIM:618279 ORPHA:1170 OMIM:213200 ORPHA:98810 OMIM:118800 OMIM:613179 OMIM:610717 ORPHA:98908 OMIM:215470 ORPHA:79096 OMIM:610090 ORPHA:319514 OMIM:614932 OMIM:616364 ORPHA:468678 OMIM:301030 ORPHA:726 ORPHA:254892 ORPHA:254886 OMIM:203700 OMIM:157640 OMIM:258450 OMIM:607459 ORPHA:70595 OMIM:616494 OMIM:607694 ORPHA:447896 ORPHA:3455 OMIM:264090 OMIM:614381 OMIM:619310 OMIM:253280 OMIM:618604 ORPHA:1435 OMIM:619352 OMIM:616817 OMIM:604326 ORPHA:98762 ORPHA:457279 OMIM:256730 ORPHA:324290 OMIM:616640 OMIM:619862 OMIM:612437 OMIM:619680 ORPHA:98763 OMIM:600116 OMIM:612067 ORPHA:210571 OMIM:600072 OMIM:137440 ORPHA:356 ORPHA:157941 OMIM:603218 ORPHA:282166 OMIM:239500 OMIM:619737 ORPHA:99014 ORPHA:423479 OMIM:602066 OMIM:128200 ORPHA:98811 OMIM:617481 ORPHA:544469 OMIM:611721 ORPHA:139406 OMIM:610539 OMIM:619491 OMIM:610992 ORPHA:284417 OMIM:620071 OMIM:619057 OMIM:300830 OMIM:158350 OMIM:146200 ORPHA:13 OMIM:261640 ORPHA:508488 ORPHA:508498 OMIM:617931 OMIM:616158 ORPHA:314655 OMIM:618342 OMIM:614438 OMIM:261630 OMIM:617982 OMIM:617807 OMIM:614222 OMIM:300271 OMIM:311510 ORPHA:401830 OMIM:212720 OMIM:600882 OMIM:617751 ORPHA:500159 OMIM:182290 OMIM:618075 OMIM:616140 ORPHA:438114 OMIM:619690 OMIM:610250 ORPHA:401849 ORPHA:504476 OMIM:612015 OMIM:618004 OMIM:619790 OMIM:300978 OMIM:614922 OMIM:612951 ORPHA:512260 OMIM:618060 OMIM:618357 OMIM:204100 OMIM:300998 ORPHA:100993 OMIM:604805 ORPHA:468631 OMIM:617773 ORPHA:324581 ORPHA:98 OMIM:601068 OMIM:159550 OMIM:619229 ORPHA:99956 ORPHA:46059 OMIM:254900 OMIM:619317 ORPHA:682 OMIM:618364 ORPHA:521411 OMIM:613724 ORPHA:466794 OMIM:616719 OMIM:252011 OMIM:619167 ORPHA:506353 OMIM:618768 OMIM:618876 ORPHA:2524 OMIM:613811 OMIM:604218 OMIM:602433 OMIM:606002 OMIM:615578 OMIM:159900 ORPHA:261197 ORPHA:99949 OMIM:601596 OMIM:606232 OMIM:619121 OMIM:619922 OMIM:616341 ORPHA:1935 OMIM:218000 OMIM:615905 ORPHA:59 OMIM:300523 OMIM:604369 ORPHA:352649 OMIM:618049 OMIM:607483 OMIM:616657 ORPHA:447997 OMIM:618972 OMIM:612949 ORPHA:247585 OMIM:238970 ORPHA:415 OMIM:618811 OMIM:618416 OMIM:616505 OMIM:619303 ORPHA:71277 OMIM:601042 OMIM:606777 OMIM:612126 ORPHA:53583 ORPHA:309854 OMIM:613280 OMIM:617595 ORPHA:171863 ORPHA:521406 OMIM:617013 OMIM:201100 OMIM:618868 OMIM:229050 OMIM:614707 OMIM:211530 OMIM:158580 OMIM:616421 OMIM:616269 ORPHA:457212 ORPHA:238455 OMIM:613135 OMIM:614618 OMIM:300352 ORPHA:52503 OMIM:617301 OMIM:619191 OMIM:616291 ORPHA:85278 OMIM:619293 OMIM:301044 OMIM:619995 OMIM:253300 OMIM:253550 OMIM:253400 OMIM:271150 OMIM:257200 ORPHA:3063 OMIM:168601 ORPHA:542310 OMIM:614561 OMIM:105830 OMIM:209850 ORPHA:177907 OMIM:618598 OMIM:609136 ORPHA:313892 ORPHA:101000 OMIM:275900 ORPHA:100985 ORPHA:457351 OMIM:619312 OMIM:602099 OMIM:616668 OMIM:604360 OMIM:618829 ORPHA:70594 OMIM:612716 OMIM:619475 ORPHA:352403 OMIM:600224 OMIM:615386 OMIM:617519 OMIM:162400 OMIM:616437 OMIM:617145 OMIM:609056 OMIM:614261 OMIM:607876 ORPHA:412057 OMIM:618093 OMIM:615768 OMIM:612164 OMIM:612073 ORPHA:17 OMIM:272300 ORPHA:88644 ORPHA:544254 OMIM:615530 OMIM:618218 ORPHA:522077 OMIM:619461 OMIM:314250 OMIM:300966 ORPHA:53351 ORPHA:480907 OMIM:618906 OMIM:616878 ORPHA:480864 OMIM:619575 OMIM:612069 ORPHA:28378 OMIM:617695 OMIM:608105 OMIM:615338 ORPHA:352596 ORPHA:496641 OMIM:617193 OMIM:616439 OMIM:607136 ORPHA:98759 OMIM:606053 ORPHA:1727 OMIM:618430 OMIM:610954 OMIM:614020 OMIM:616736 OMIM:301066 ORPHA:90117 OMIM:604484 OMIM:613908 ORPHA:276193 ORPHA:101150 OMIM:605407 OMIM:602629 OMIM:618800 OMIM:300957 ORPHA:457240 ORPHA:505216 OMIM:617698 OMIM:304700 ORPHA:52368 OMIM:618251 OMIM:617044 ORPHA:488618 OMIM:301080 OMIM:213980 OMIM:617964 OMIM:619470 ORPHA:2752 OMIM:607454 ORPHA:98773 OMIM:618688 OMIM:610688 OMIM:614052 OMIM:616744 ORPHA:98902 OMIM:605355 OMIM:619556 OMIM:619653 OMIM:618074 OMIM:614969 OMIM:618947 OMIM:128100 OMIM:615512 OMIM:614458 OMIM:204500 ORPHA:284324 OMIM:609270 OMIM:618201 ORPHA:369847 OMIM:615356 ORPHA:369840 ORPHA:500144 OMIM:617669 OMIM:617862 OMIM:613192 ORPHA:2770 OMIM:618193 OMIM:619428 OMIM:618825 OMIM:617061 ORPHA:476126 OMIM:616539 OMIM:545000 OMIM:612389 OMIM:612390 ORPHA:166063 OMIM:277470 OMIM:225753 OMIM:610505 ORPHA:99819 ORPHA:424 OMIM:608800 ORPHA:168593 OMIM:615157 OMIM:615541 ORPHA:391307 ORPHA:96 OMIM:105210 ORPHA:300570 OMIM:612438 ORPHA:98805 OMIM:271245 ORPHA:478029 OMIM:221770 ORPHA:1145 OMIM:301830 OMIM:617132 ORPHA:411511 ORPHA:98795 OMIM:300857 ORPHA:500180 OMIM:617672 OMIM:615491 OMIM:618076 OMIM:618792 ORPHA:79234 OMIM:619279 OMIM:615159 OMIM:276880 ORPHA:210128 ORPHA:401795 ORPHA:251282 OMIM:618760 OMIM:608627 OMIM:182980 OMIM:617802 ORPHA:329478 OMIM:613954 ORPHA:329475 OMIM:224050 OMIM:200150 ORPHA:2388 OMIM:616840 ORPHA:95434 OMIM:607317 OMIM:614203 ORPHA:319199 OMIM:614898 OMIM:619273 OMIM:615851 OMIM:607596 OMIM:619216 OMIM:616948 OMIM:617710 OMIM:619738 ORPHA:572798 ORPHA:100989 ORPHA:513456 OMIM:618347 ORPHA:329284 OMIM:300894 OMIM:610185 OMIM:222300 OMIM:300842 OMIM:278700 OMIM:613159 OMIM:616413 OMIM:615127 OMIM:619609 OMIM:617665 OMIM:617557 ORPHA:506358 OMIM:612337 OMIM:259050 ORPHA:261552 ORPHA:261537 ORPHA:401840 ORPHA:100996 OMIM:270700 OMIM:610244 OMIM:619522 OMIM:618425 OMIM:619877 OMIM:260565 OMIM:617865
 

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