Human Phenotype Ontology 
Grandparent Node:
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Abnormal nervous system physiology (HP:0012638)help
Parent Node:
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Abnormal central motor function (HP:0011442)help
..Starting node
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Abnormality of extrapyramidal motor function (HP:0002071)help
Term ID: 2071
Name: Abnormality of extrapyramidal motor function
Synonym: Extrapyramidal dysfunction; Extrapyramidal signs; Extrapyramidal symptoms; Extrapyramidal syndrome; Extrapyramidal tract signs
Definition: A neurological condition related to lesions of the basal ganglia leading to typical abnormalities including akinesia (inability to initiate changes in activity and perform volitional movements rapidly and easily), muscular rigidity (continuous contraction of muscles with constant resistance to passive movement), chorea (widespread arrhythmic movements of a forcible, rapid, jerky, and restless nature), athetosis (inability to sustain the muscles of the fingers, toes, or other group of muscles in a fixed position), and akathisia (inability to remain motionless).
Comments:
Reference: HP:0002071
Genes and Diseases:
 
       Child Nodes:
........expandParkinsonism (HP:0001300) help
................... HP:0002548 Parkinsonism with favorable response to dopaminergic medication
........expandBradykinesia (HP:0002067) help
........expandExaggerated startle response (HP:0002267) help
........expandExtrapyramidal muscular rigidity (HP:0007076) help
................... HP:0007158 Progressive extrapyramidal muscular rigidity
........expandProgressive extrapyramidal movement disorder (HP:0007153) help
........expandExtrapyramidal dyskinesia (HP:0007308) help
........expandAthetoid cerebral palsy (HP:0011445) help

 Sister Nodes: 
..expandAbnormality of central motor conduction (HP:0012079) help
..expandAbnormality of coordination (HP:0011443) help
..expandApraxia (HP:0002186) help
..expandCerebral palsy (HP:0100021) help
..expandobsolete Central hypotonia (HP:0011398) help
..expandParalysis (HP:0003470) help
..expandRigidity (HP:0002063) help
..expandTorticollis (HP:0000473) help
..expandUpper motor neuron dysfunction (HP:0002493) 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:0002071HP:0002071Abnormality of extrapyramidal motor function0ABCA7 CL E G H1034737OMIM:608907Alzheimer disease 9, susceptibility toHP:0040283 - Occasional3
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0ABCA7 CL E G H1034737ORPHA:1020Early-onset autosomal dominant Alzheimer disease3
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0ACAT1 CL E G H3893ORPHA:134Beta-ketothiolase deficiency91
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0ACD CL E G H6505725070ORPHA:618Familial melanomaHP:0040283 - Occasional11
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0ACTA1 CL E G H58129ORPHA:171439Childhood-onset nemaline myopathy96
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0ADAR CL E G H103225ORPHA:51Aicardi-Goutières syndromeHP:0040282 - Frequent116
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0ADGRV1 CL E G H8405917416ORPHA:36387Generalized epilepsy with febrile seizures-plus530
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0ADH1C CL E G H126251OMIM:168600Parkinson disease, late-onset4
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0AFG3L2 CL E G H10939315OMIM:610246Spinocerebellar ataxia 2886
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0AFG3L2 CL E G H10939315ORPHA:101109Spinocerebellar ataxia type 2886
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0ALG13 CL E G H7986830881OMIM:300884Epileptic encephalopathy, early infantile, 36.96
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0ALS2 CL E G H57679443ORPHA:300605Juvenile amyotrophic lateral sclerosis114
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0AOPEP CL E G H849091361OMIM:619565DYSTONIA 31; DYT31
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0AP5Z1 CL E G H990722197ORPHA:306511Autosomal recessive spastic paraplegia type 48165
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0AP5Z1 CL E G H990722197OMIM:613647Spastic paraplegia 48, autosomal recessive165
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0APOE CL E G H348613OMIM:104310Alzheimer disease 239
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0APOE CL E G H348613OMIM:607822Alzheimer disease 3.39
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0APP CL E G H351620OMIM:104300Alzheimer disease74
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0APP CL E G H351620ORPHA:1020Early-onset autosomal dominant Alzheimer disease74
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0ARHGEF9 CL E G H2322914561OMIM:300607Epileptic encephalopathy, early infantile, 845
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0ARHGEF9 CL E G H2322914561ORPHA:163985Hyperekplexia-epilepsy syndrome45
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0ASNS CL E G H440753OMIM:615574Asparagine synthetase deficiency17
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0ATL1 CL E G H5106211231ORPHA:100984Autosomal dominant spastic paraplegia type 371
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0ATN1 CL E G H18223033OMIM:125370Dentatorubral-Pallidoluysian atrophy naito-oyanagi disease haw river syndrome ataxia, chorea, seizures, and dementia16
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0ATP13A2 CL E G H2340030213ORPHA:314632ATP13A2-related juvenile neuronal ceroid lipofuscinosis100
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0ATP13A2 CL E G H2340030213ORPHA:513436Autosomal recessive spastic paraplegia type 78100
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0ATP13A2 CL E G H2340030213OMIM:606693Kufor-Rakeb syndrome100
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0ATP13A2 CL E G H2340030213ORPHA:306674Kufor-Rakeb syndrome100
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0ATP13A2 CL E G H2340030213OMIM:617225SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE; SPG78100
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0ATP1A3 CL E G H478801OMIM:601338Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss150
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0ATP1A3 CL E G H478801OMIM:128235Dystonia 12150
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0ATP1A3 CL E G H478801ORPHA:71517Rapid-onset dystonia-parkinsonism150
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0ATP5MK CL E G H8483330889OMIM:618683MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 6; MC5DN6
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0ATP6AP2 CL E G H1015918305OMIM:300423MENTAL RETARDATION, X-LINKED, SYNDROMIC, HEDERA TYPE; MRXSH36
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0ATP6AP2 CL E G H1015918305OMIM:300911Parkinsonism with spasticity, X-linked36
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0ATP6AP2 CL E G H1015918305ORPHA:93952X-linked intellectual disability, Hedera type36
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0ATP6AP2 CL E G H1015918305ORPHA:363654X-linked parkinsonism-spasticity syndrome36
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0ATP7B CL E G H540870OMIM:277900Wilson disease315
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0ATXN1 CL E G H631010548OMIM:164400Spinocerebellar ataxia 1.19
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0ATXN1 CL E G H631010548ORPHA:98755Spinocerebellar ataxia type 119
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0ATXN10 CL E G H2581410549OMIM:603516Spinocerebellar ataxia 10.9
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0ATXN2 CL E G H631110555OMIM:168600Parkinson disease, late-onset11
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0ATXN2 CL E G H631110555OMIM:183090Spinocerebellar ataxia 211
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0ATXN2 CL E G H631110555ORPHA:98756Spinocerebellar ataxia type 211
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0ATXN3 CL E G H42877106OMIM:109150Machado-Joseph disease.14
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0ATXN3 CL E G H42877106ORPHA:276238Machado-Joseph disease type 1HP:0040281 - Very frequent14
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0ATXN3 CL E G H42877106ORPHA:276241Machado-Joseph disease type 2HP:0040281 - Very frequent14
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0ATXN3 CL E G H42877106ORPHA:276244Machado-Joseph disease type 3HP:0040281 - Very frequent14
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0ATXN7 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:0002071HP:0002071Abnormality of extrapyramidal motor function0ATXN8 CL E G H72406632925ORPHA:98760Spinocerebellar ataxia type 81
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0ATXN8OS CL E G H631510561OMIM:168600Parkinson disease, late-onset1
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0ATXN8OS CL E G H631510561ORPHA:98760Spinocerebellar ataxia type 81
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0BAP1 CL E G H8314950ORPHA:618Familial melanomaHP:0040283 - Occasional184
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0BAZ1B CL E G H9031961ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0BCL7B CL E G H92751005ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0BOLA3 CL E G H38896224415OMIM:614299Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia.14
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0BUD23 CL E G H11404916405ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0C19ORF12 CL E G H8363625443ORPHA:289560Mitochondrial membrane protein-associated neurodegeneration114
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0C19ORF12 CL E G H8363625443OMIM:614298Neurodegeneration with brain iron accumulation 4.114
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0C9ORF72 CL E G H20322828337OMIM:105550Amyotrophic lateral sclerosis and/or frontotemporal dementia 156
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0C9ORF72 CL E G H20322828337ORPHA:275864Behavioral variant of frontotemporal dementiaHP:0040283 - Occasional56
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0C9ORF72 CL E G H20322828337ORPHA:275872Frontotemporal dementia with motor neuron diseaseHP:0040282 - Frequent56
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0C9ORF72 CL E G H20322828337ORPHA:401901Huntington disease-like syndrome due to C9ORF72 expansions56
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0C9ORF72 CL E G H20322828337ORPHA:100070Progressive non-fluent aphasiaHP:0040283 - Occasional56
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0CAMK2B CL E G H8161461OMIM:617799Mental retardation, autosomal dominant 54
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0CAT CL E G H8471516ORPHA:926Acatalasemia5
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0CDK4 CL E G H10191773ORPHA:618Familial melanomaHP:0040283 - Occasional145
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0CDKN2A CL E G H10291787ORPHA:618Familial melanomaHP:0040283 - Occasional289
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0CDKN2B CL E G H10301788ORPHA:618Familial melanomaHP:0040283 - Occasional1
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0CHCHD10 CL E G H40091615559OMIM:615911Frontotemporal dementia and/or amyotrophic lateral sclerosis 211
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0CHCHD10 CL E G H40091615559ORPHA:275872Frontotemporal dementia with motor neuron diseaseHP:0040282 - Frequent11
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0CHCHD2 CL E G H5114221645OMIM:616710Parkinson disease 22, autosomal dominant3
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0CHMP2B CL E G H2597824537ORPHA:275864Behavioral variant of frontotemporal dementiaHP:0040283 - Occasional42
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0CHMP2B CL E G H2597824537ORPHA:100070Progressive non-fluent aphasiaHP:0040283 - Occasional42
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0CLIP2 CL E G H74612586ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0CLN3 CL E G H12012074OMIM:204200Ceroid lipofuscinosis, neuronal, 3.216
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0CLN3 CL E G H12012074ORPHA:228346CLN3 disease216
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0CLN6 CL E G H549822077OMIM:204300Ceroid lipofuscinosis, neuronal, 4A, autosomal recessive.143
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0CLPB CL E G H8157030664ORPHA:4450383-methylglutaconic aciduria type 7HP:0040282 - Frequent38
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0CLTC CL E G H12132092OMIM:617854Mental retardation, autosomal dominant 561
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0COASY CL E G H8034729932ORPHA:397725COASY protein-associated neurodegeneration16
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0COASY CL E G H8034729932OMIM:615643Neurodegeneration with brain iron accumulation 616
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0COQ2 CL E G H2723525223OMIM:146500Multiple system atrophy 1, susceptibility to54
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0COQ2 CL E G H2723525223ORPHA:227510Multiple system atrophy, cerebellar type54
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0COQ2 CL E G H2723525223ORPHA:98933Multiple system atrophy, parkinsonian type54
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0CP CL E G H13562295ORPHA:48818Aceruloplasminemia115
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0CP CL E G H13562295OMIM:604290ACERULOPLASMINEMIA.115
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0CSF1R CL E G H14362433OMIM:221820Leukoencephalopathy, diffuse hereditary, with spheroids149
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0CTC1 CL E G H8016926169OMIM:612199Cerebroretinal microangiopathy with calcifications and cysts.160
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0CTSF CL E G H87222531OMIM:615362Ceroid lipofuscinosis, neuronal, 13.20
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0CYP27A1 CL E G H15932605ORPHA:909Cerebrotendinous xanthomatosisHP:0040282 - Frequent114
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0DCAF17 CL E G H8006725784OMIM:241080Woodhouse-Sakati syndrome.87
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0DCTN1 CL E G H16392711ORPHA:178509Perry syndromeHP:0040281 - Very frequent86
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0DCTN1 CL E G H16392711OMIM:168605Perry syndrome86
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0DDB2 CL E G H16432718ORPHA:910Xeroderma pigmentosumHP:0040283 - Occasional30
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0DDC CL E G H16442719OMIM:608643Aromatic L-amino acid decarboxylase deficiency43
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0DHDDS CL E G H7994720603OMIM:617836Developmental delay and seizures with or without movement abnormalities47
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0DNAJC12 CL E G H5652128908OMIM:617384Hyperphenylalaninemia, MILD, non-bh4-deficient3
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0DNAJC13 CL E G H2331730343ORPHA:411602Hereditary late-onset Parkinson disease2
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0DNAJC30 CL E G H8427716410ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0DNAJC5 CL E G H8033116235OMIM:162350Ceroid lipofuscinosis, neuronal, 4B, autosomal dominant.155
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0DNAJC6 CL E G H982915469ORPHA:391411Atypical juvenile parkinsonism6
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0DNAJC6 CL E G H982915469OMIM:615528Parkinson disease 19a, juvenile-onset6
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0DNAJC6 CL E G H982915469ORPHA:2828Young-onset Parkinson disease6
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0DPYS CL E G H18073013OMIM:222748Dihydropyrimidinuria44
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0EARS2 CL E G H12445429419OMIM:614924Combined oxidative phosphorylation deficiency 1280
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0EIF2AK1 CL E G H2710224921OMIM:618878LEUKOENCEPHALOPATHY, MOTOR DELAY, SPASTICITY, AND DYSARTHRIA SYNDROME; LEMSPAD
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0EIF2AK2 CL E G H56109437OMIM:618877LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME; LEUDEN
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0EIF4G1 CL E G H19813296ORPHA:411602Hereditary late-onset Parkinson disease2
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0EIF4G1 CL E G H19813296OMIM:614251Parkinson disease 182
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0EIF4H CL E G H745812741ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0ELN CL E G H20063327ORPHA:904Williams syndromeHP:0040281 - Very frequent172
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0ERCC2 CL E G H20683434ORPHA:910Xeroderma pigmentosumHP:0040283 - Occasional106
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0ERCC3 CL E G H20713435ORPHA:910Xeroderma pigmentosumHP:0040283 - Occasional54
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0ERCC4 CL E G H20723436ORPHA:910Xeroderma pigmentosumHP:0040283 - Occasional158
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0ERCC5 CL E G H20733437ORPHA:910Xeroderma pigmentosumHP:0040283 - Occasional83
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0ETHE1 CL E G H2347423287OMIM:602473Encephalopathy, ethylmalonic.42
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0ETHE1 CL E G H2347423287ORPHA:51188Ethylmalonic encephalopathyHP:0040282 - Frequent42
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0FA2H CL E G H7915221197ORPHA:329308Fatty acid hydroxylase-associated neurodegeneration76
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0FARS2 CL E G H1066721062ORPHA:466722Autosomal recessive spastic paraplegia type 7736
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0FBXO7 CL E G H2579313586OMIM:260300Parkinson disease 15, autosomal recessive early-onset.36
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0FBXO7 CL E G H2579313586ORPHA:171695Parkinsonian-pyramidal syndrome36
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0FKBP6 CL E G H84683722ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0FKTN CL E G H22183622OMIM:253800MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4184
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0FLRT1 CL E G H237693760ORPHA:320406Spastic paraplegia-optic atrophy-neuropathy syndromeHP:0040283 - Occasional
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0FMR1 CL E G H23323775OMIM:300623Fragile X tremor/ataxia syndrome30
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0FMR1 CL E G H23323775ORPHA:93256Fragile X-associated tremor/ataxia syndrome30
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0FTL CL E G H25123999OMIM:606159Neurodegeneration with brain iron accumulation 333
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0FTL CL E G H25123999ORPHA:157846Neuroferritinopathy33
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0FUS CL E G H25214010ORPHA:275872Frontotemporal dementia with motor neuron diseaseHP:0040282 - Frequent105
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0FUS CL E G H25214010ORPHA:300605Juvenile amyotrophic lateral sclerosis105
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0GABRA1 CL E G H25544075ORPHA:33069Dravet syndrome134
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0GABRD CL E G H25634084ORPHA:36387Generalized epilepsy with febrile seizures-plus10
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0GABRG2 CL E G H25664087ORPHA:33069Dravet syndrome139
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0GABRG2 CL E G H25664087ORPHA:36387Generalized epilepsy with febrile seizures-plus139
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0GAMT CL E G H25934136OMIM:612736Cerebral creatine deficiency syndrome 291
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0GAMT CL E G H25934136ORPHA:382Guanidinoacetate methyltransferase deficiencyHP:0040282 - Frequent91
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0GBA1 CL E G H26294177OMIM:127750Dementia, lewy body
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0GBA1 CL E G H26294177ORPHA:411602Hereditary late-onset Parkinson disease
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0GBA1 CL E G H26294177OMIM:168600Parkinson disease, late-onset
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0GBE1 CL E G H26324180ORPHA:206583Adult polyglucosan body diseaseHP:0040283 - Occasional86
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0GCH1 CL E G H26434193ORPHA:98808Autosomal dominant dopa-responsive dystoniaHP:0040282 - Frequent86
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0GCH1 CL E G H26434193OMIM:128230Dystonia, DOPA-responsive, with or without hyperphenylalaninemia86
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0GIGYF2 CL E G H2605811960ORPHA:411602Hereditary late-onset Parkinson disease8
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0GIGYF2 CL E G H2605811960OMIM:607688PARKINSON DISEASE 11, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO; PARK118
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0GLB1 CL E G H27204298ORPHA:79255GM1 gangliosidosis type 1.120
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0GLRA1 CL E G H27414326OMIM:149400Hyperekplexia 163
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0GLRB CL E G H27434329OMIM:614619Hyperekplexia 246
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0GLUD2 CL E G H27474336OMIM:168600Parkinson disease, late-onset1
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0GM2A CL E G H27604367ORPHA:309246GM2 gangliosidosis, AB variant69
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0GM2A CL E G H27604367OMIM:272750Gm2-Gangliosidosis, ab variant69
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0GPHN CL E G H1024315465OMIM:149400Hyperekplexia 118
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0GRN CL E G H28964601ORPHA:275864Behavioral variant of frontotemporal dementiaHP:0040283 - Occasional126
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0GRN CL E G H28964601OMIM:607485Frontotemporal lobar degeneration with TDP43 inclusions126
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0GRN CL E G H28964601ORPHA:100070Progressive non-fluent aphasiaHP:0040283 - Occasional126
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0GTF2I CL E G H29694659ORPHA:904Williams syndromeHP:0040281 - Very frequent1
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0GTF2IRD1 CL E G H95694661ORPHA:904Williams syndromeHP:0040281 - Very frequent1
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0GTF2IRD2 CL E G H8416330775ORPHA:904Williams syndromeHP:0040281 - Very frequent1
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0HCN1 CL E G H3489804845ORPHA:36387Generalized epilepsy with febrile seizures-plus54
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0HEXB CL E G H30744879OMIM:268800Sandhoff disease80
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0HEXB CL E G H30744879ORPHA:309155Sandhoff disease, infantile form80
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0HEXB CL E G H30744879ORPHA:309162Sandhoff disease, juvenile form80
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0HFE CL E G H30774886OMIM:104300Alzheimer disease38
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0HLA-DQB1 CL E G H31194944OMIM:123400Creutzfeldt-Jakob disease
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0HPRT1 CL E G H32515157ORPHA:79233Hypoxanthine guanine phosphoribosyltransferase partial deficiencyHP:0040283 - Occasional76
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0HPRT1 CL E G H32515157OMIM:300322Lesch-Nyhan syndrome.76
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0HTRA1 CL E G H56549476OMIM:600142Autosomal recessive cerebral arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL).34
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0HTRA2 CL E G H2742914348OMIM:610297PARKINSON DISEASE 13, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO; PARK1339
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0HTRA2 CL E G H2742914348ORPHA:2828Young-onset Parkinson disease39
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0HTT CL E G H30644851OMIM:143100Huntington disease12
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0HTT CL E G H30644851ORPHA:399Huntington disease12
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0HTT CL E G H30644851ORPHA:248111Juvenile Huntington disease12
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0HTT CL E G H30644851OMIM:617435Lopes-Maciel-Rodan syndrome12
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0IFIH1 CL E G H6413518873ORPHA:51Aicardi-Goutières syndromeHP:0040282 - Frequent28
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0IMPDH2 CL E G H36156053ORPHA:98808Autosomal dominant dopa-responsive dystoniaHP:0040282 - Frequent1
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0JAM2 CL E G H5849414686OMIM:618824BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 8, AUTOSOMAL RECESSIVE; IBGC8
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0JPH3 CL E G H5733814203ORPHA:98934Huntington disease-like 22
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0JPH3 CL E G H5733814203OMIM:606438Huntington disease-like 22
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0KBTBD13 CL E G H39059437227ORPHA:171439Childhood-onset nemaline myopathy80
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0KCNC3 CL E G H37486235ORPHA:98768Spinocerebellar ataxia type 1317
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0KCNN2 CL E G H37816291OMIM:619725NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE MOVEMENT OR BEHAVIORAL ABNORMALITIES; NEDMAB
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0KIF5A CL E G H37986323ORPHA:100991Autosomal dominant spastic paraplegia type 1093
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0KIF5A CL E G H37986323OMIM:604187Spastic paraplegia 10, autosomal dominant93
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0KLC2 CL E G H6483720716OMIM:609541Spastic paraplegia, optic atrophy, and neuropathy1
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0KLC2 CL E G H6483720716ORPHA:320406Spastic paraplegia-optic atrophy-neuropathy syndromeHP:0040283 - Occasional1
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0KLHL41 CL E G H1032416905ORPHA:171439Childhood-onset nemaline myopathy13
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0L2HGDH CL E G H7994420499ORPHA:79314L-2-hydroxyglutaric aciduriaHP:0040282 - Frequent34
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0L2HGDH CL E G H7994420499OMIM:236792L-2-Hydroxyglutaric aciduria.34
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0LIMK1 CL E G H39846613ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0LIPT1 CL E G H5160129569OMIM:616299Lipoyltransferase 1 deficiency.21
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0LRRK2 CL E G H12089218618ORPHA:411602Hereditary late-onset Parkinson disease221
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0LRRK2 CL E G H12089218618OMIM:607060Parkinson disease 8, autosomal dominant221
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0LRRK2 CL E G H12089218618ORPHA:2828Young-onset Parkinson disease221
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0LSM11 CL E G H13435330860ORPHA:51Aicardi-Goutières syndromeHP:0040282 - Frequent
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0LYST CL E G H11301968ORPHA:352723Attenuated Chédiak-Higashi syndromeHP:0040283 - Occasional239
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0LYST CL E G H11301968ORPHA:167Chédiak-Higashi syndrome239
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0MAPT CL E G H41376893ORPHA:275864Behavioral variant of frontotemporal dementiaHP:0040283 - Occasional140
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0MAPT CL E G H41376893ORPHA:240071Classic progressive supranuclear palsy syndrome140
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0MAPT CL E G H41376893OMIM:600274Frontotemporal dementia140
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0MAPT CL E G H41376893OMIM:168600Parkinson disease, late-onset140
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0MAPT CL E G H41376893ORPHA:100070Progressive non-fluent aphasiaHP:0040283 - Occasional140
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0MAPT CL E G H41376893ORPHA:240103Progressive supranuclear palsy-corticobasal syndrome140
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0MAPT CL E G H41376893ORPHA:240085Progressive supranuclear palsy-parkinsonism syndrome140
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0MAPT CL E G H41376893ORPHA:240112Progressive supranuclear palsy-progressive non-fluent aphasia syndrome140
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0MAPT CL E G H41376893OMIM:260540Supranuclear palsy, progressive atypical140
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0MAPT CL E G H41376893OMIM:601104Supranuclear palsy, progressive, 1140
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0MC1R CL E G H41576929ORPHA:618Familial melanomaHP:0040283 - Occasional124
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0MECP2 CL E G H42046990OMIM:300055Mental retardation, X-linked, syndromic 13950
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0MECP2 CL E G H42046990ORPHA:778Rett syndrome950
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0MECP2 CL E G H42046990ORPHA:3077X-linked intellectual disability-psychosis-macroorchidism syndrome950
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0METTL27 CL E G H15536819068ORPHA:904Williams syndromeHP:0040281 - Very frequent1
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0MGMT CL E G H42557059ORPHA:618Familial melanomaHP:0040283 - Occasional3
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0MICU1 CL E G H103671530OMIM:615673Myopathy with extrapyramidal signs14
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0MICU1 CL E G H103671530ORPHA:401768Proximal myopathy with extrapyramidal signs14
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0MINPP1 CL E G H95627102OMIM:619527PONTOCEREBELLAR HYPOPLASIA, TYPE 16; PCH163
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0MITF CL E G H42867105ORPHA:618Familial melanomaHP:0040283 - Occasional91
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0MLXIPL CL E G H5108512744ORPHA:904Williams syndromeHP:0040281 - Very frequent1
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0MMACHC CL E G H2597424525OMIM:277400Methylmalonic aciduria and homocystinuria, Cblc type.101
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0MPO CL E G H43537218OMIM:104300Alzheimer disease11
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0MTHFS CL E G H105887437OMIM:618367Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0MYORG CL E G H5746219918OMIM:618317Basal ganglia calcification, idiopathic, 7, autosomal recessive
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0MYPN CL E G H8466523246ORPHA:171439Childhood-onset nemaline myopathy217
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0NAGA CL E G H46687631ORPHA:79279Alpha-N-acetylgalactosaminidase deficiency type 1HP:0040282 - Frequent47
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0NCF1 CL E G H6533617660ORPHA:904Williams syndromeHP:0040281 - Very frequent13
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0NDUFA1 CL E G H46947683OMIM:301020Mitochondrial complex I deficiency, nuclear type 12.7
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0NDUFS7 CL E G H3742917714OMIM:618224Mitochondrial complex I deficiency, nuclear type 3.38
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0NEB CL E G H47037720ORPHA:171439Childhood-onset nemaline myopathy745
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0NFU1 CL E G H2724716287OMIM:605711Multiple mitochondrial dysfunctions syndrome 134
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0NOS3 CL E G H48467876OMIM:104300Alzheimer disease8
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0NOTCH3 CL E G H48547883ORPHA:136Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy144
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0NR4A2 CL E G H49297981OMIM:61991127
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0NR4A2 CL E G H49297981ORPHA:98808Autosomal dominant dopa-responsive dystoniaHP:0040282 - Frequent27
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0NR4A2 CL E G H49297981OMIM:168600Parkinson disease, late-onset27
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0OPA3 CL E G H802078142OMIM:2585013-methylglutaconic aciduria, type III163
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0OPA3 CL E G H802078142ORPHA:67036Autosomal dominant optic atrophy and cataract163
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0OPA3 CL E G H802078142OMIM:165300OPTIC ATROPHY 3, AUTOSOMAL DOMINANT; OPA3163
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0PANK2 CL E G H8002515894ORPHA:216873Atypical pantothenate kinase-associated neurodegeneration55
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0PANK2 CL E G H8002515894OMIM:234200Neurodegeneration with brain iron accumulation 1.55
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0PARK7 CL E G H1131516369OMIM:606324PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET; PARK723
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0PARK7 CL E G H1131516369ORPHA:2828Young-onset Parkinson disease23
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0PCBD1 CL E G H50928646ORPHA:1578Pterin-4 alpha-carbinolamine dehydratase deficiency24
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0PCDH19 CL E G H5752614270ORPHA:33069Dravet syndrome225
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0PDE10A CL E G H108468772ORPHA:494541Childhood-onset benign chorea with striatal involvement5
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0PDE10A CL E G H108468772OMIM:616922Striatal degeneration, autosomal dominant 25
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0PDE8B CL E G H86228794ORPHA:228169Autosomal dominant striatal neurodegeneration75
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0PDE8B CL E G H86228794OMIM:609161Striatal degeneration, autosomal dominant75
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0PDGFB CL E G H51558800OMIM:213600Basal ganglia calcification, idiopathic, 19
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0PDGFB CL E G H51558800OMIM:615483Basal ganglia calcification, idiopathic, 59
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0PDGFRB CL E G H51598804OMIM:213600Basal ganglia calcification, idiopathic, 128
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0PDGFRB CL E G H51598804OMIM:615007Basal ganglia calcification, idiopathic, 428
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0PET117 CL E G H10030375540045OMIM:619063MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 19; MC4DN19
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0PIDD1 CL E G H5536716491OMIM:619827INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 75, WITH NEUROPSYCHIATRIC FEATURES AND VARIANT LISSENCEPHALY; MRT75
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0PINK1 CL E G H6501814581OMIM:605909Parkinson disease 6, autosomal recessive early-onset55
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0PINK1 CL E G H6501814581ORPHA:2828Young-onset Parkinson disease55
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0PLA2G6 CL E G H83989039ORPHA:199351Adult-onset dystonia-parkinsonism133
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0PLA2G6 CL E G H83989039OMIM:610217Neurodegeneration with brain iron accumulation 2B133
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0PLA2G6 CL E G H83989039OMIM:612953Parkinson disease 14, autosomal recessive133
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0PLAA CL E G H93739043OMIM:617527Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies3
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0PLAA CL E G H93739043ORPHA:521426PLAA-associated neurodevelopmental disorderHP:0040282 - Frequent3
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0PLAU CL E G H53289052OMIM:104300Alzheimer disease50
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0PLP1 CL E G H53549086ORPHA:280219Pelizaeus-Merzbacher disease, classic formHP:0040283 - Occasional60
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0PLP1 CL E G H53549086ORPHA:99015Spastic paraplegia type 2HP:0040282 - Frequent60
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0PODXL CL E G H54209171ORPHA:391411Atypical juvenile parkinsonism6
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0PODXL CL E G H54209171ORPHA:2828Young-onset Parkinson disease6
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0POLG CL E G H54289179ORPHA:254892Autosomal dominant progressive external ophthalmoplegiaHP:0040283 - Occasional464
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0POLG CL E G H54289179ORPHA:254886Autosomal recessive progressive external ophthalmoplegia464
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0POLG CL E G H54289179OMIM:157640Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1464
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0POLG CL E G H54289179OMIM:258450Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive464
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0POLG2 CL E G H112329180ORPHA:254892Autosomal dominant progressive external ophthalmoplegiaHP:0040283 - Occasional45
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0POT1 CL E G H2591317284ORPHA:618Familial melanomaHP:0040283 - Occasional23
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0PPP2R2B CL E G H55219305OMIM:604326Spinocerebellar ataxia 125
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0PPP2R2B CL E G H55219305ORPHA:98762Spinocerebellar ataxia type 125
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0PRDX1 CL E G H50529352OMIM:277400Methylmalonic aciduria and homocystinuria, Cblc type.
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0PRDX3 CL E G H109359354OMIM:619862
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0PRKAR1B CL E G H55759390ORPHA:412066PRKAR1B-related neurodegenerative dementia with intermediate filaments2
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0PRKN CL E G H50718607OMIM:600116Parkinson disease, juvenile, type 2138
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0PRKN CL E G H50718607ORPHA:2828Young-onset Parkinson disease138
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0PRKRA CL E G H85759438OMIM:612067Dystonia 1637
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0PRKRA CL E G H85759438ORPHA:210571Dystonia 1637
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0PRNP CL E G H56219449OMIM:123400Creutzfeldt-Jakob disease69
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0PRNP CL E G H56219449OMIM:137440Gerstmann-Straussler disease69
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0PRNP CL E G H56219449ORPHA:356Gerstmann-Straussler-Scheinker syndromeHP:0040282 - Frequent69
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0PRNP CL E G H56219449ORPHA:157941Huntington disease-like 169
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0PRNP CL E G H56219449ORPHA:282166Inherited Creutzfeldt-Jakob disease69
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0PSAP CL E G H56609498OMIM:619491PARKINSON DISEASE 24, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO; PARK2481
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0PSEN1 CL E G H56639508OMIM:607822Alzheimer disease 3.241
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0PSEN1 CL E G H56639508ORPHA:275864Behavioral variant of frontotemporal dementiaHP:0040283 - Occasional241
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0PSEN1 CL E G H56639508ORPHA:1020Early-onset autosomal dominant Alzheimer disease241
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0PSEN1 CL E G H56639508OMIM:600274Frontotemporal dementia241
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0PSEN1 CL E G H56639508ORPHA:100070Progressive non-fluent aphasiaHP:0040283 - Occasional241
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0PSEN2 CL E G H56649509ORPHA:1020Early-onset autosomal dominant Alzheimer disease59
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0PTS CL E G H58059689ORPHA:136-pyruvoyl-tetrahydropterin synthase deficiencyHP:0040283 - Occasional19
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0PTS CL E G H58059689OMIM:261640Hyperphenylalaninemia, BH4-deficient, A19
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0PURA CL E G H58139701ORPHA:438216PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation53
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0RAB39B CL E G H11644216499OMIM:311510Waisman syndrome34
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0RARS1 CL E G H59179870OMIM:616140Leukodystrophy, hypomyelinating, 9.
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0RARS1 CL E G H59179870ORPHA:438114RARS-related autosomal recessive hypomyelinating leukodystrophy
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0RBM10 CL E G H82419896ORPHA:2886TARP syndrome16
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0RFC2 CL E G H59829970ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0RNASEH2A CL E G H1053518518ORPHA:51Aicardi-Goutières syndromeHP:0040282 - Frequent33
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0RNASEH2B CL E G H7962125671ORPHA:51Aicardi-Goutières syndromeHP:0040282 - Frequent34
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0RNASEH2C CL E G H8415324116ORPHA:51Aicardi-Goutières syndromeHP:0040282 - Frequent60
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0RNU7-1 CL E G H10014774434033ORPHA:51Aicardi-Goutières syndromeHP:0040282 - Frequent
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0RRM2B CL E G H5048417296ORPHA:254892Autosomal dominant progressive external ophthalmoplegiaHP:0040283 - Occasional125
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0SAMHD1 CL E G H2593915925ORPHA:51Aicardi-Goutières syndromeHP:0040282 - Frequent55
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0SCN1A CL E G H632310585ORPHA:33069Dravet syndrome1053
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0SCN1A CL E G H632310585ORPHA:36387Generalized epilepsy with febrile seizures-plus1053
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0SCN1B CL E G H632410586ORPHA:33069Dravet syndrome126
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0SCN1B CL E G H632410586ORPHA:36387Generalized epilepsy with febrile seizures-plus126
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0SCN2A CL E G H632610588ORPHA:33069Dravet syndrome427
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0SCN2A CL E G H632610588ORPHA:36387Generalized epilepsy with febrile seizures-plus427
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0SCN9A CL E G H633510597ORPHA:33069Dravet syndrome318
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0SCN9A CL E G H633510597ORPHA:36387Generalized epilepsy with febrile seizures-plus318
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0SERAC1 CL E G H8494721061OMIM:6147393-Methylglutaconic aciduria with deafness, encephalopathy, and leigh-like syndrome.47
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0SERPINI1 CL E G H52748943OMIM:604218Encephalopathy, familial, with neuroserpin inclusion bodies.28
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0SIGMAR1 CL E G H102808157ORPHA:300605Juvenile amyotrophic lateral sclerosis6
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0SLC16A2 CL E G H656710923ORPHA:59Allan-Herndon-Dudley syndromeHP:0040283 - Occasional57
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0SLC18A2 CL E G H657110935ORPHA:352649Brain dopamine-serotonin vesicular transport disease2
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0SLC18A2 CL E G H657110935OMIM:618049Parkinsonism-Dystonia, infantile, 22
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0SLC20A2 CL E G H657510947OMIM:213600Basal ganglia calcification, idiopathic, 170
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0SLC25A4 CL E G H29110990ORPHA:254892Autosomal dominant progressive external ophthalmoplegiaHP:0040283 - Occasional68
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0SLC2A1 CL E G H651311005ORPHA:71277Classic glucose transporter type 1 deficiency syndrome255
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0SLC2A3 CL E G H651511007ORPHA:399Huntington disease1
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0SLC30A10 CL E G H5553225355ORPHA:309854Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome42
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0SLC30A10 CL E G H5553225355OMIM:613280Hypermanganesemia with dystonia 142
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0SLC39A14 CL E G H2351620858ORPHA:521406Dystonia-parkinsonism-hypermanganesemia syndrome5
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0SLC39A14 CL E G H2351620858OMIM:617013Hypermanganesemia with dystonia 25
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0SLC6A3 CL E G H653111049ORPHA:238455Infantile dystonia-parkinsonism13
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0SLC6A3 CL E G H653111049OMIM:613135Parkinsonism-Dystonia, infantile, 113
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0SLC6A5 CL E G H915211051OMIM:614618Hyperekplexia 381
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0SLC6A9 CL E G H653611056OMIM:617301Glycine encephalopathy with normal serum glycine4
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0SNCA CL E G H662211138OMIM:127750Dementia, lewy body65
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0SNCA CL E G H662211138ORPHA:411602Hereditary late-onset Parkinson disease65
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0SNCA CL E G H662211138OMIM:168601Parkinson disease 1, autosomal dominant65
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0SNCA CL E G H662211138OMIM:605543Parkinson disease 465
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0SNCA CL E G H662211138ORPHA:171695Parkinsonian-pyramidal syndrome65
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0SNCA CL E G H662211138ORPHA:2828Young-onset Parkinson disease65
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0SNCAIP CL E G H962711139OMIM:168600Parkinson disease, late-onset35
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0SNCB CL E G H662011140OMIM:127750Dementia, lewy body2
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0SNORD118 CL E G H72767632952OMIM:614561Leukoencephalopathy, brain calcifications, and cysts.6
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0SOD1 CL E G H664711179OMIM:618598SPASTIC TETRAPLEGIA AND AXIAL HYPOTONIA, PROGRESSIVE; STAHP53
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0SORL1 CL E G H665311185ORPHA:1020Early-onset autosomal dominant Alzheimer disease3
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0SPG11 CL E G H8020811226ORPHA:2822Autosomal recessive spastic paraplegia type 11HP:0040283 - Occasional287
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0SPG11 CL E G H8020811226ORPHA:300605Juvenile amyotrophic lateral sclerosis287
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0SPG21 CL E G H5132420373ORPHA:101001Autosomal recessive spastic paraplegia type 21HP:0040283 - Occasional28
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0SPR CL E G H669711257ORPHA:70594Dopa-responsive dystonia due to sepiapterin reductase deficiency28
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0SPTLC1 CL E G H1055811277ORPHA:300605Juvenile amyotrophic lateral sclerosis54
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0SQSTM1 CL E G H887811280ORPHA:275864Behavioral variant of frontotemporal dementiaHP:0040283 - Occasional62
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0SQSTM1 CL E G H887811280ORPHA:275872Frontotemporal dementia with motor neuron diseaseHP:0040282 - Frequent62
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0STUB1 CL E G H1027311427OMIM:618093SPINOCEREBELLAR ATAXIA 48; SCA4814
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0STX1A CL E G H680411433ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0STX1B CL E G H11275518539ORPHA:36387Generalized epilepsy with febrile seizures-plus9
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0SYNJ1 CL E G H886711503ORPHA:391411Atypical juvenile parkinsonism9
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0SYNJ1 CL E G H886711503OMIM:615530Parkinson disease 20, early-onset9
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0SYNJ1 CL E G H886711503ORPHA:2828Young-onset Parkinson disease9
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0SYT1 CL E G H685711509ORPHA:522077Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome1
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0TACO1 CL E G H5120424316OMIM:619052MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 8; MC4DN823
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0TAF1 CL E G H687211535OMIM:314250Dystonia 3, torsion, X-linked21
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0TAF1 CL E G H687211535ORPHA:53351X-linked dystonia-parkinsonism21
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0TANGO2 CL E G H12898925439ORPHA:480864Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndromeHP:0040282 - Frequent12
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0TARDBP CL E G H2343511571ORPHA:275872Frontotemporal dementia with motor neuron diseaseHP:0040282 - Frequent65
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0TBC1D24 CL E G H5746529203OMIM:615338Epileptic encephalopathy, early infantile, 16.271
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0TBC1D24 CL E G H5746529203ORPHA:352596Progressive myoclonic epilepsy with dystoniaHP:0040283 - Occasional271
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0TBK1 CL E G H2911011584ORPHA:275872Frontotemporal dementia with motor neuron diseaseHP:0040282 - Frequent20
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0TBL2 CL E G H2660811586ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0TBP CL E G H690811588OMIM:168600Parkinson disease, late-onset7
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0TBP CL E G H690811588OMIM:607136Spinocerebellar ataxia 177
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0TBP CL E G H690811588ORPHA:98759Spinocerebellar ataxia type 177
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0TERF2IP CL E G H5438619246ORPHA:618Familial melanomaHP:0040283 - Occasional
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0TERT CL E G H701511730ORPHA:618Familial melanomaHP:0040283 - Occasional238
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0TH CL E G H705411782ORPHA:101150Autosomal recessive dopa-responsive dystoniaHP:0040282 - Frequent80
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0TH CL E G H705411782OMIM:605407Segawa syndrome, autosomal recessive.80
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0TK2 CL E G H708411831ORPHA:254886Autosomal recessive progressive external ophthalmoplegia103
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0TMEM106B CL E G H5466422407ORPHA:275864Behavioral variant of frontotemporal dementiaHP:0040283 - Occasional
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0TMEM106B CL E G H5466422407ORPHA:100070Progressive non-fluent aphasiaHP:0040283 - Occasional
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0TMEM240 CL E G H33945325186OMIM:607454Spinocerebellar ataxia 21.9
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0TMEM240 CL E G H33945325186ORPHA:98773Spinocerebellar ataxia type 21HP:0040281 - Very frequent9
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0TMEM270 CL E G H13588623018ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0TNIK CL E G H2304330765OMIM:617028Mental retardation, autosomal recessive 542
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0TNR CL E G H714311953OMIM:619653NEURODEVELOPMENTAL DISORDER, NONPROGRESSIVE, WITH SPASTICITY AND TRANSIENT OPISTHOTONUS; NEDSTO7
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0TOMM40 CL E G H1045218001ORPHA:1020Early-onset autosomal dominant Alzheimer disease
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0TPM2 CL E G H716912011ORPHA:171439Childhood-onset nemaline myopathy54
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0TPM3 CL E G H717012012ORPHA:171439Childhood-onset nemaline myopathy108
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0TRAK1 CL E G H2290629947OMIM:618201Epileptic encephalopathy, early infantile, 68
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0TREM2 CL E G H5420917761ORPHA:275864Behavioral variant of frontotemporal dementiaHP:0040283 - Occasional31
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0TREM2 CL E G H5420917761ORPHA:1020Early-onset autosomal dominant Alzheimer disease31
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0TREM2 CL E G H5420917761ORPHA:100070Progressive non-fluent aphasiaHP:0040283 - Occasional31
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0TREX1 CL E G H1127712269ORPHA:51Aicardi-Goutières syndromeHP:0040282 - Frequent56
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0TREX1 CL E G H1127712269OMIM:225750Aicardi-Goutieres syndrome 1.56
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0TRNT CL E G H45767499OMIM:168600Parkinson disease, late-onset
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0TRPM7 CL E G H5482217994OMIM:105500Amyotrophic lateral sclerosis-parkinsonism/dementia complex 12
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0TSEN2 CL E G H8074628422OMIM:612389Pontocerebellar hypoplasia, type 2B84
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0TSEN54 CL E G H28398927561OMIM:277470Pontocerebellar hypoplasia, type 2A102
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0TSPOAP1 CL E G H925616831ORPHA:101150Autosomal recessive dopa-responsive dystoniaHP:0040282 - Frequent2
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0TSPYL1 CL E G H725912382OMIM:608800Sudden infant death with dysgenesis of the testes syndrome1
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0TTC19 CL E G H5490226006OMIM:615157Mitochondrial complex III deficiency, nuclear type 288
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0TWNK CL E G H566521160ORPHA:254892Autosomal dominant progressive external ophthalmoplegiaHP:0040283 - Occasional113
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0TWNK CL E G H566521160OMIM:609286Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3113
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0UBTF CL E G H734312511ORPHA:500180Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorderHP:0040281 - Very frequent1
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0UBTF CL E G H734312511OMIM:617672Neurodegeneration, childhood-onset, with brain atrophy.1
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0UCHL1 CL E G H734512513OMIM:613643PARKINSON DISEASE 5, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO; PARK521
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0UCHL1 CL E G H734512513ORPHA:2828Young-onset Parkinson disease21
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0UQCRC1 CL E G H738412585OMIM:619279PARKINSONISM WITH POLYNEUROPATHY; PKNPY
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0UQCRQ CL E G H2708929594OMIM:615159Mitochondrial complex III deficiency, nuclear type 4.34
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0VCP CL E G H741512666ORPHA:329478Adult-onset distal myopathy due to VCP mutation63
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0VCP CL E G H741512666ORPHA:275864Behavioral variant of frontotemporal dementiaHP:0040283 - Occasional63
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0VCP CL E G H741512666ORPHA:275872Frontotemporal dementia with motor neuron diseaseHP:0040282 - Frequent63
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0VCP CL E G H741512666ORPHA:100070Progressive non-fluent aphasiaHP:0040283 - Occasional63
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0VPS13A CL E G H232301908ORPHA:2388Choreoacanthocytosis130
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0VPS13A CL E G H232301908OMIM:200150CHOREOACANTHOCYTOSIS130
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0VPS13C CL E G H5483223594OMIM:616840Parkinson disease 23, autosomal recessive early-onset8
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0VPS13C CL E G H5483223594ORPHA:2828Young-onset Parkinson disease8
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0VPS35 CL E G H5573713487ORPHA:411602Hereditary late-onset Parkinson disease37
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0VPS35 CL E G H5573713487OMIM:614203Parkinson disease 1737
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0VPS37D CL E G H15538218287ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0WARS2 CL E G H1035212730OMIM:619738PARKINSONISM-DYSTONIA 3, CHILDHOOD-ONSET; PKDYS32
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0WDR45 CL E G H1115228912ORPHA:329284Beta-propeller protein-associated neurodegeneration51
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0WDR45 CL E G H1115228912OMIM:300894Neurodegeneration with brain iron accumulation 5.51
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0WDR73 CL E G H8494225928ORPHA:83472CAMOS syndrome14
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0XPA CL E G H750712814ORPHA:910Xeroderma pigmentosumHP:0040283 - Occasional34
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0XPC CL E G H750812816ORPHA:910Xeroderma pigmentosumHP:0040283 - Occasional86
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0XPR1 CL E G H921312827OMIM:616413Basal ganglia calcification, idiopathic, 64
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0ZFYVE26 CL E G H2350320761ORPHA:100996Autosomal recessive spastic paraplegia type 15HP:0040282 - Frequent189
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0ZMYM2 CL E G H775012989OMIM:619522NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0ZNF592 CL E G H964028986ORPHA:83472CAMOS syndrome4
HP:0002071HP:0001300Parkinsonism1ABCA7 CL E G H1034737ORPHA:1020Early-onset autosomal dominant Alzheimer diseaseHP:0040281 - Very frequent3
HP:0002071HP:0007308Extrapyramidal dyskinesia1ACAT1 CL E G H3893ORPHA:134Beta-ketothiolase deficiencyHP:0040283 - Occasional91
HP:0002071HP:0002067Bradykinesia1ACTA1 CL E G H58129ORPHA:171439Childhood-onset nemaline myopathyHP:0040282 - Frequent96
HP:0002071HP:0007076Extrapyramidal muscular rigidity1ADAR CL E G H103225ORPHA:51Aicardi-Goutières syndromeHP:0040282 - Frequent116
HP:0002071HP:0002067Bradykinesia1ADGRV1 CL E G H8405917416ORPHA:36387Generalized epilepsy with febrile seizures-plusHP:0040284 - Very rare530
HP:0002071HP:0002067Bradykinesia1ADH1C CL E G H126251OMIM:168600Parkinson disease, late-onset.4
HP:0002071HP:0001300Parkinsonism1ADH1C CL E G H126251OMIM:168600Parkinson disease, late-onset.4
HP:0002071HP:0001300Parkinsonism1AFG3L2 CL E G H10939315OMIM:610246Spinocerebellar ataxia 28HP:0040283 - Occasional86
HP:0002071HP:0001300Parkinsonism1AFG3L2 CL E G H10939315ORPHA:101109Spinocerebellar ataxia type 28HP:0040283 - Occasional86
HP:0002071HP:0001300Parkinsonism1ALS2 CL E G H57679443ORPHA:300605Juvenile amyotrophic lateral sclerosisHP:0040283 - Occasional114
HP:0002071HP:0001300Parkinsonism1AOPEP CL E G H849091361OMIM:619565DYSTONIA 31; DYT31
HP:0002071HP:0001300Parkinsonism1AP5Z1 CL E G H990722197ORPHA:306511Autosomal recessive spastic paraplegia type 48HP:0040283 - Occasional165
HP:0002071HP:0001300Parkinsonism1AP5Z1 CL E G H990722197OMIM:613647Spastic paraplegia 48, autosomal recessive.165
HP:0002071HP:0001300Parkinsonism1APOE CL E G H348613OMIM:104310Alzheimer disease 2.39
HP:0002071HP:0001300Parkinsonism1APP CL E G H351620OMIM:104300Alzheimer disease.74
HP:0002071HP:0001300Parkinsonism1APP CL E G H351620ORPHA:1020Early-onset autosomal dominant Alzheimer diseaseHP:0040281 - Very frequent74
HP:0002071HP:0002267Exaggerated startle response1ARHGEF9 CL E G H2322914561OMIM:300607Epileptic encephalopathy, early infantile, 8.45
HP:0002071HP:0002267Exaggerated startle response1ARHGEF9 CL E G H2322914561ORPHA:163985Hyperekplexia-epilepsy syndromeHP:0040282 - Frequent45
HP:0002071HP:0002267Exaggerated startle response1ASNS CL E G H440753OMIM:615574Asparagine synthetase deficiency.17
HP:0002071HP:0002067Bradykinesia1ATL1 CL E G H5106211231ORPHA:100984Autosomal dominant spastic paraplegia type 3HP:0040284 - Very rare71
HP:0002071HP:0001300Parkinsonism1ATN1 CL E G H18223033OMIM:125370Dentatorubral-Pallidoluysian atrophy naito-oyanagi disease haw river syndrome ataxia, chorea, seizures, and dementia16
HP:0002071HP:0001300Parkinsonism1ATP13A2 CL E G H2340030213ORPHA:314632ATP13A2-related juvenile neuronal ceroid lipofuscinosis100
HP:0002071HP:0002067Bradykinesia1ATP13A2 CL E G H2340030213ORPHA:314632ATP13A2-related juvenile neuronal ceroid lipofuscinosisHP:0040282 - Frequent100
HP:0002071HP:0007153Progressive extrapyramidal movement disorder1ATP13A2 CL E G H2340030213ORPHA:513436Autosomal recessive spastic paraplegia type 78HP:0040284 - Very rare100
HP:0002071HP:0002067Bradykinesia1ATP13A2 CL E G H2340030213OMIM:606693Kufor-Rakeb syndrome100
HP:0002071HP:0002067Bradykinesia1ATP13A2 CL E G H2340030213ORPHA:306674Kufor-Rakeb syndromeHP:0040283 - Occasional100
HP:0002071HP:0001300Parkinsonism1ATP13A2 CL E G H2340030213OMIM:606693Kufor-Rakeb syndrome.100
HP:0002071HP:0001300Parkinsonism1ATP13A2 CL E G H2340030213ORPHA:306674Kufor-Rakeb syndromeHP:0040281 - Very frequent100
HP:0002071HP:0002067Bradykinesia1ATP13A2 CL E G H2340030213OMIM:617225SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE; SPG78100
HP:0002071HP:0001300Parkinsonism1ATP13A2 CL E G H2340030213OMIM:617225SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE; SPG78100
HP:0002071HP:0002067Bradykinesia1ATP1A3 CL E G H478801OMIM:601338Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss150
HP:0002071HP:0001300Parkinsonism1ATP1A3 CL E G H478801OMIM:128235Dystonia 12.150
HP:0002071HP:0002067Bradykinesia1ATP1A3 CL E G H478801OMIM:128235Dystonia 12.150
HP:0002071HP:0001300Parkinsonism1ATP1A3 CL E G H478801ORPHA:71517Rapid-onset dystonia-parkinsonismHP:0040282 - Frequent150
HP:0002071HP:0002067Bradykinesia1ATP1A3 CL E G H478801ORPHA:71517Rapid-onset dystonia-parkinsonismHP:0040282 - Frequent150
HP:0002071HP:0002067Bradykinesia1ATP5MK CL E G H8483330889OMIM:618683MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 6; MC5DN6
HP:0002071HP:0002067Bradykinesia1ATP6AP2 CL E G H1015918305OMIM:300423MENTAL RETARDATION, X-LINKED, SYNDROMIC, HEDERA TYPE; MRXSH36
HP:0002071HP:0001300Parkinsonism1ATP6AP2 CL E G H1015918305OMIM:300423MENTAL RETARDATION, X-LINKED, SYNDROMIC, HEDERA TYPE; MRXSH36
HP:0002071HP:0002067Bradykinesia1ATP6AP2 CL E G H1015918305OMIM:300911Parkinsonism with spasticity, X-linked.36
HP:0002071HP:0001300Parkinsonism1ATP6AP2 CL E G H1015918305OMIM:300911Parkinsonism with spasticity, X-linked.36
HP:0002071HP:0007076Extrapyramidal muscular rigidity1ATP6AP2 CL E G H1015918305ORPHA:93952X-linked intellectual disability, Hedera typeHP:0040282 - Frequent36
HP:0002071HP:0002067Bradykinesia1ATP6AP2 CL E G H1015918305ORPHA:363654X-linked parkinsonism-spasticity syndromeHP:0040282 - Frequent36
HP:0002071HP:0001300Parkinsonism1ATP7B CL E G H540870OMIM:277900Wilson disease315
HP:0002071HP:0002067Bradykinesia1ATXN1 CL E G H631010548ORPHA:98755Spinocerebellar ataxia type 1HP:0040282 - Frequent19
HP:0002071HP:0002067Bradykinesia1ATXN10 CL E G H2581410549OMIM:603516Spinocerebellar ataxia 109
HP:0002071HP:0002067Bradykinesia1ATXN2 CL E G H631110555OMIM:168600Parkinson disease, late-onset.11
HP:0002071HP:0001300Parkinsonism1ATXN2 CL E G H631110555OMIM:168600Parkinson disease, late-onset.11
HP:0002071HP:0001300Parkinsonism1ATXN2 CL E G H631110555OMIM:183090Spinocerebellar ataxia 2.11
HP:0002071HP:0002067Bradykinesia1ATXN2 CL E G H631110555OMIM:183090Spinocerebellar ataxia 2.11
HP:0002071HP:0001300Parkinsonism1ATXN2 CL E G H631110555ORPHA:98756Spinocerebellar ataxia type 2HP:0040283 - Occasional11
HP:0002071HP:0001300Parkinsonism1ATXN3 CL E G H42877106OMIM:109150Machado-Joseph disease14
HP:0002071HP:0002067Bradykinesia1ATXN3 CL E G H42877106OMIM:109150Machado-Joseph disease.14
HP:0002071HP:0002067Bradykinesia1ATXN8 CL E G H72406632925ORPHA:98760Spinocerebellar ataxia type 8HP:0040282 - Frequent1
HP:0002071HP:0001300Parkinsonism1ATXN8OS CL E G H631510561OMIM:168600Parkinson disease, late-onset.1
HP:0002071HP:0002067Bradykinesia1ATXN8OS CL E G H631510561OMIM:168600Parkinson disease, late-onset.1
HP:0002071HP:0002067Bradykinesia1ATXN8OS CL E G H631510561ORPHA:98760Spinocerebellar ataxia type 8HP:0040282 - Frequent1
HP:0002071HP:0002067Bradykinesia1C19ORF12 CL E G H8363625443ORPHA:289560Mitochondrial membrane protein-associated neurodegenerationHP:0040282 - Frequent114
HP:0002071HP:0001300Parkinsonism1C19ORF12 CL E G H8363625443ORPHA:289560Mitochondrial membrane protein-associated neurodegenerationHP:0040282 - Frequent114
HP:0002071HP:0001300Parkinsonism1C19ORF12 CL E G H8363625443OMIM:614298Neurodegeneration with brain iron accumulation 4.114
HP:0002071HP:0001300Parkinsonism1C9ORF72 CL E G H20322828337OMIM:105550Amyotrophic lateral sclerosis and/or frontotemporal dementia 1.56
HP:0002071HP:0007308Extrapyramidal dyskinesia1C9ORF72 CL E G H20322828337OMIM:105550Amyotrophic lateral sclerosis and/or frontotemporal dementia 1.56
HP:0002071HP:0001300Parkinsonism1C9ORF72 CL E G H20322828337ORPHA:275872Frontotemporal dementia with motor neuron diseaseHP:0040282 - Frequent56
HP:0002071HP:0001300Parkinsonism1C9ORF72 CL E G H20322828337ORPHA:401901Huntington disease-like syndrome due to C9ORF72 expansionsHP:0040283 - Occasional56
HP:0002071HP:0001300Parkinsonism1C9ORF72 CL E G H20322828337ORPHA:100070Progressive non-fluent aphasiaHP:0040283 - Occasional56
HP:0002071HP:0011445Athetoid cerebral palsy1CAMK2B CL E G H8161461OMIM:617799Mental retardation, autosomal dominant 54
HP:0002071HP:0001300Parkinsonism1CAT CL E G H8471516ORPHA:926AcatalasemiaHP:0040284 - Very rare5
HP:0002071HP:0001300Parkinsonism1CHCHD10 CL E G H40091615559OMIM:615911Frontotemporal dementia and/or amyotrophic lateral sclerosis 2HP:0040283 - Occasional11
HP:0002071HP:0001300Parkinsonism1CHCHD10 CL E G H40091615559ORPHA:275872Frontotemporal dementia with motor neuron diseaseHP:0040282 - Frequent11
HP:0002071HP:0002067Bradykinesia1CHCHD2 CL E G H5114221645OMIM:616710Parkinson disease 22, autosomal dominant.3
HP:0002071HP:0001300Parkinsonism1CHMP2B CL E G H2597824537ORPHA:100070Progressive non-fluent aphasiaHP:0040283 - Occasional42
HP:0002071HP:0001300Parkinsonism1CLN3 CL E G H12012074OMIM:204200Ceroid lipofuscinosis, neuronal, 3.216
HP:0002071HP:0002067Bradykinesia1CLN3 CL E G H12012074ORPHA:228346CLN3 disease216
HP:0002071HP:0007076Extrapyramidal muscular rigidity1CLN3 CL E G H12012074ORPHA:228346CLN3 disease216
HP:0002071HP:0007153Progressive extrapyramidal movement disorder1CLPB CL E G H8157030664ORPHA:4450383-methylglutaconic aciduria type 7HP:0040282 - Frequent38
HP:0002071HP:0002067Bradykinesia1CLTC CL E G H12132092OMIM:617854Mental retardation, autosomal dominant 561
HP:0002071HP:0001300Parkinsonism1COASY CL E G H8034729932ORPHA:397725COASY protein-associated neurodegenerationHP:0040281 - Very frequent16
HP:0002071HP:0002067Bradykinesia1COASY CL E G H8034729932OMIM:615643Neurodegeneration with brain iron accumulation 6.16
HP:0002071HP:0002067Bradykinesia1COQ2 CL E G H2723525223OMIM:146500Multiple system atrophy 1, susceptibility to.54
HP:0002071HP:0001300Parkinsonism1COQ2 CL E G H2723525223OMIM:146500Multiple system atrophy 1, susceptibility to.54
HP:0002071HP:0001300Parkinsonism1COQ2 CL E G H2723525223ORPHA:227510Multiple system atrophy, cerebellar typeHP:0040283 - Occasional54
HP:0002071HP:0002067Bradykinesia1COQ2 CL E G H2723525223ORPHA:227510Multiple system atrophy, cerebellar typeHP:0040283 - Occasional54
HP:0002071HP:0002067Bradykinesia1COQ2 CL E G H2723525223ORPHA:98933Multiple system atrophy, parkinsonian typeHP:0040282 - Frequent54
HP:0002071HP:0001300Parkinsonism1COQ2 CL E G H2723525223ORPHA:98933Multiple system atrophy, parkinsonian typeHP:0040282 - Frequent54
HP:0002071HP:0001300Parkinsonism1CP CL E G H13562295ORPHA:48818AceruloplasminemiaHP:0040283 - Occasional115
HP:0002071HP:0001300Parkinsonism1CSF1R CL E G H14362433OMIM:221820Leukoencephalopathy, diffuse hereditary, with spheroids149
HP:0002071HP:0002067Bradykinesia1CSF1R CL E G H14362433OMIM:221820Leukoencephalopathy, diffuse hereditary, with spheroids.149
HP:0002071HP:0001300Parkinsonism1CYP27A1 CL E G H15932605ORPHA:909Cerebrotendinous xanthomatosisHP:0040283 - Occasional114
HP:0002071HP:0001300Parkinsonism1DCTN1 CL E G H16392711OMIM:168605Perry syndrome86
HP:0002071HP:0002067Bradykinesia1DCTN1 CL E G H16392711OMIM:168605Perry syndrome.86
HP:0002071HP:0001300Parkinsonism1DCTN1 CL E G H16392711ORPHA:178509Perry syndromeHP:0040281 - Very frequent86
HP:0002071HP:0002267Exaggerated startle response1DDC CL E G H16442719OMIM:608643Aromatic L-amino acid decarboxylase deficiency43
HP:0002071HP:0002067Bradykinesia1DHDDS CL E G H7994720603OMIM:617836Developmental delay and seizures with or without movement abnormalities.47
HP:0002071HP:0002067Bradykinesia1DNAJC12 CL E G H5652128908OMIM:617384Hyperphenylalaninemia, MILD, non-bh4-deficient.3
HP:0002071HP:0001300Parkinsonism1DNAJC12 CL E G H5652128908OMIM:617384Hyperphenylalaninemia, MILD, non-bh4-deficient3
HP:0002071HP:0001300Parkinsonism1DNAJC13 CL E G H2331730343ORPHA:411602Hereditary late-onset Parkinson diseaseHP:0040280 - Obligate2
HP:0002071HP:0002067Bradykinesia1DNAJC13 CL E G H2331730343ORPHA:411602Hereditary late-onset Parkinson diseaseHP:0040283 - Occasional2
HP:0002071HP:0001300Parkinsonism1DNAJC5 CL E G H8033116235OMIM:162350Ceroid lipofuscinosis, neuronal, 4B, autosomal dominant.155
HP:0002071HP:0002067Bradykinesia1DNAJC6 CL E G H982915469ORPHA:391411Atypical juvenile parkinsonismHP:0040281 - Very frequent6
HP:0002071HP:0002067Bradykinesia1DNAJC6 CL E G H982915469OMIM:615528Parkinson disease 19a, juvenile-onset.6
HP:0002071HP:0001300Parkinsonism1DNAJC6 CL E G H982915469OMIM:615528Parkinson disease 19a, juvenile-onset.6
HP:0002071HP:0002067Bradykinesia1DNAJC6 CL E G H982915469ORPHA:2828Young-onset Parkinson diseaseHP:0040283 - Occasional6
HP:0002071HP:0007308Extrapyramidal dyskinesia1DPYS CL E G H18073013OMIM:222748Dihydropyrimidinuria.44
HP:0002071HP:0002067Bradykinesia1EARS2 CL E G H12445429419OMIM:614924Combined oxidative phosphorylation deficiency 12.80
HP:0002071HP:0002067Bradykinesia1EIF2AK1 CL E G H2710224921OMIM:618878LEUKOENCEPHALOPATHY, MOTOR DELAY, SPASTICITY, AND DYSARTHRIA SYNDROME; LEMSPAD
HP:0002071HP:0002067Bradykinesia1EIF2AK2 CL E G H56109437OMIM:618877LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME; LEUDEN
HP:0002071HP:0001300Parkinsonism1EIF2AK2 CL E G H56109437OMIM:618877LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME; LEUDEN
HP:0002071HP:0002067Bradykinesia1EIF4G1 CL E G H19813296ORPHA:411602Hereditary late-onset Parkinson diseaseHP:0040283 - Occasional2
HP:0002071HP:0001300Parkinsonism1EIF4G1 CL E G H19813296ORPHA:411602Hereditary late-onset Parkinson diseaseHP:0040280 - Obligate2
HP:0002071HP:0001300Parkinsonism1EIF4G1 CL E G H19813296OMIM:614251Parkinson disease 18.2
HP:0002071HP:0002067Bradykinesia1EIF4G1 CL E G H19813296OMIM:614251Parkinson disease 18.2
HP:0002071HP:0007153Progressive extrapyramidal movement disorder1FA2H CL E G H7915221197ORPHA:329308Fatty acid hydroxylase-associated neurodegenerationHP:0040282 - Frequent76
HP:0002071HP:0002067Bradykinesia1FARS2 CL E G H1066721062ORPHA:466722Autosomal recessive spastic paraplegia type 77HP:0040283 - Occasional36
HP:0002071HP:0001300Parkinsonism1FBXO7 CL E G H2579313586OMIM:260300Parkinson disease 15, autosomal recessive early-onset.36
HP:0002071HP:0002067Bradykinesia1FBXO7 CL E G H2579313586OMIM:260300Parkinson disease 15, autosomal recessive early-onset.36
HP:0002071HP:0002067Bradykinesia1FBXO7 CL E G H2579313586ORPHA:171695Parkinsonian-pyramidal syndromeHP:0040282 - Frequent36
HP:0002071HP:0001300Parkinsonism1FBXO7 CL E G H2579313586ORPHA:171695Parkinsonian-pyramidal syndromeHP:0040280 - Obligate36
HP:0002071HP:0002267Exaggerated startle response1FKTN CL E G H22183622OMIM:253800MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4HP:0040283 - Occasional184
HP:0002071HP:0002267Exaggerated startle response1FLRT1 CL E G H237693760ORPHA:320406Spastic paraplegia-optic atrophy-neuropathy syndromeHP:0040282 - Frequent
HP:0002071HP:0001300Parkinsonism1FMR1 CL E G H23323775OMIM:300623Fragile X tremor/ataxia syndrome30
HP:0002071HP:0002067Bradykinesia1FMR1 CL E G H23323775OMIM:300623Fragile X tremor/ataxia syndrome30
HP:0002071HP:0001300Parkinsonism1FMR1 CL E G H23323775ORPHA:93256Fragile X-associated tremor/ataxia syndromeHP:0040283 - Occasional30
HP:0002071HP:0002067Bradykinesia1FMR1 CL E G H23323775ORPHA:93256Fragile X-associated tremor/ataxia syndromeHP:0040283 - Occasional30
HP:0002071HP:0001300Parkinsonism1FTL CL E G H25123999OMIM:606159Neurodegeneration with brain iron accumulation 3.33
HP:0002071HP:0002067Bradykinesia1FTL CL E G H25123999OMIM:606159Neurodegeneration with brain iron accumulation 333
HP:0002071HP:0001300Parkinsonism1FTL CL E G H25123999ORPHA:157846NeuroferritinopathyHP:0040283 - Occasional33
HP:0002071HP:0002067Bradykinesia1FTL CL E G H25123999ORPHA:157846NeuroferritinopathyHP:0040282 - Frequent33
HP:0002071HP:0001300Parkinsonism1FUS CL E G H25214010ORPHA:275872Frontotemporal dementia with motor neuron diseaseHP:0040282 - Frequent105
HP:0002071HP:0001300Parkinsonism1FUS CL E G H25214010ORPHA:300605Juvenile amyotrophic lateral sclerosisHP:0040283 - Occasional105
HP:0002071HP:0001300Parkinsonism1GABRA1 CL E G H25544075ORPHA:33069Dravet syndromeHP:0040282 - Frequent134
HP:0002071HP:0002067Bradykinesia1GABRA1 CL E G H25544075ORPHA:33069Dravet syndromeHP:0040282 - Frequent134
HP:0002071HP:0002067Bradykinesia1GABRD CL E G H25634084ORPHA:36387Generalized epilepsy with febrile seizures-plusHP:0040284 - Very rare10
HP:0002071HP:0002067Bradykinesia1GABRG2 CL E G H25664087ORPHA:33069Dravet syndromeHP:0040282 - Frequent139
HP:0002071HP:0001300Parkinsonism1GABRG2 CL E G H25664087ORPHA:33069Dravet syndromeHP:0040282 - Frequent139
HP:0002071HP:0002067Bradykinesia1GABRG2 CL E G H25664087ORPHA:36387Generalized epilepsy with febrile seizures-plusHP:0040284 - Very rare139
HP:0002071HP:0007153Progressive extrapyramidal movement disorder1GAMT CL E G H25934136OMIM:612736Cerebral creatine deficiency syndrome 2.91
HP:0002071HP:0007153Progressive extrapyramidal movement disorder1GAMT CL E G H25934136ORPHA:382Guanidinoacetate methyltransferase deficiencyHP:0040282 - Frequent91
HP:0002071HP:0001300Parkinsonism1GBA1 CL E G H26294177OMIM:127750Dementia, lewy body.
HP:0002071HP:0002067Bradykinesia1GBA1 CL E G H26294177ORPHA:411602Hereditary late-onset Parkinson diseaseHP:0040283 - Occasional
HP:0002071HP:0001300Parkinsonism1GBA1 CL E G H26294177ORPHA:411602Hereditary late-onset Parkinson diseaseHP:0040280 - Obligate
HP:0002071HP:0002067Bradykinesia1GBA1 CL E G H26294177OMIM:168600Parkinson disease, late-onset.
HP:0002071HP:0001300Parkinsonism1GBA1 CL E G H26294177OMIM:168600Parkinson disease, late-onset.
HP:0002071HP:0001300Parkinsonism1GCH1 CL E G H26434193ORPHA:98808Autosomal dominant dopa-responsive dystoniaHP:0040282 - Frequent86
HP:0002071HP:0002067Bradykinesia1GCH1 CL E G H26434193ORPHA:98808Autosomal dominant dopa-responsive dystoniaHP:0040283 - Occasional86
HP:0002071HP:0001300Parkinsonism1GCH1 CL E G H26434193OMIM:128230Dystonia, DOPA-responsive, with or without hyperphenylalaninemia86
HP:0002071HP:0002067Bradykinesia1GCH1 CL E G H26434193OMIM:128230Dystonia, DOPA-responsive, with or without hyperphenylalaninemia86
HP:0002071HP:0002067Bradykinesia1GIGYF2 CL E G H2605811960ORPHA:411602Hereditary late-onset Parkinson diseaseHP:0040283 - Occasional8
HP:0002071HP:0001300Parkinsonism1GIGYF2 CL E G H2605811960ORPHA:411602Hereditary late-onset Parkinson diseaseHP:0040280 - Obligate8
HP:0002071HP:0001300Parkinsonism1GIGYF2 CL E G H2605811960OMIM:607688PARKINSON DISEASE 11, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO; PARK118
HP:0002071HP:0002067Bradykinesia1GIGYF2 CL E G H2605811960OMIM:607688PARKINSON DISEASE 11, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO; PARK118
HP:0002071HP:0002267Exaggerated startle response1GLB1 CL E G H27204298ORPHA:79255GM1 gangliosidosis type 1HP:0040282 - Frequent120
HP:0002071HP:0002267Exaggerated startle response1GLRA1 CL E G H27414326OMIM:149400Hyperekplexia 1.63
HP:0002071HP:0002267Exaggerated startle response1GLRB CL E G H27434329OMIM:614619Hyperekplexia 2.46
HP:0002071HP:0002067Bradykinesia1GLUD2 CL E G H27474336OMIM:168600Parkinson disease, late-onset.1
HP:0002071HP:0001300Parkinsonism1GLUD2 CL E G H27474336OMIM:168600Parkinson disease, late-onset.1
HP:0002071HP:0002267Exaggerated startle response1GM2A CL E G H27604367ORPHA:309246GM2 gangliosidosis, AB variantHP:0040281 - Very frequent69
HP:0002071HP:0002267Exaggerated startle response1GM2A CL E G H27604367OMIM:272750Gm2-Gangliosidosis, ab variant.69
HP:0002071HP:0002267Exaggerated startle response1GPHN CL E G H1024315465OMIM:149400Hyperekplexia 1.18
HP:0002071HP:0001300Parkinsonism1GRN CL E G H28964601OMIM:607485Frontotemporal lobar degeneration with TDP43 inclusions.126
HP:0002071HP:0001300Parkinsonism1GRN CL E G H28964601ORPHA:100070Progressive non-fluent aphasiaHP:0040283 - Occasional126
HP:0002071HP:0002067Bradykinesia1HCN1 CL E G H3489804845ORPHA:36387Generalized epilepsy with febrile seizures-plusHP:0040284 - Very rare54
HP:0002071HP:0002267Exaggerated startle response1HEXB CL E G H30744879OMIM:268800Sandhoff disease80
HP:0002071HP:0002267Exaggerated startle response1HEXB CL E G H30744879ORPHA:309155Sandhoff disease, infantile form80
HP:0002071HP:0001300Parkinsonism1HFE CL E G H30774886OMIM:104300Alzheimer disease.38
HP:0002071HP:0007076Extrapyramidal muscular rigidity1HLA-DQB1 CL E G H31194944OMIM:123400Creutzfeldt-Jakob disease.
HP:0002071HP:0001300Parkinsonism1HTRA2 CL E G H2742914348OMIM:610297PARKINSON DISEASE 13, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO; PARK1339
HP:0002071HP:0002067Bradykinesia1HTRA2 CL E G H2742914348OMIM:610297PARKINSON DISEASE 13, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO; PARK1339
HP:0002071HP:0002067Bradykinesia1HTRA2 CL E G H2742914348ORPHA:2828Young-onset Parkinson diseaseHP:0040283 - Occasional39
HP:0002071HP:0002067Bradykinesia1HTT CL E G H30644851ORPHA:399Huntington diseaseHP:0040282 - Frequent12
HP:0002071HP:0002067Bradykinesia1HTT CL E G H30644851OMIM:143100Huntington disease.12
HP:0002071HP:0002067Bradykinesia1HTT CL E G H30644851ORPHA:248111Juvenile Huntington diseaseHP:0040282 - Frequent12
HP:0002071HP:0002067Bradykinesia1HTT CL E G H30644851OMIM:617435Lopes-Maciel-Rodan syndrome.12
HP:0002071HP:0007076Extrapyramidal muscular rigidity1IFIH1 CL E G H6413518873ORPHA:51Aicardi-Goutières syndromeHP:0040282 - Frequent28
HP:0002071HP:0001300Parkinsonism1IMPDH2 CL E G H36156053ORPHA:98808Autosomal dominant dopa-responsive dystoniaHP:0040282 - Frequent1
HP:0002071HP:0002067Bradykinesia1IMPDH2 CL E G H36156053ORPHA:98808Autosomal dominant dopa-responsive dystoniaHP:0040283 - Occasional1
HP:0002071HP:0002067Bradykinesia1JAM2 CL E G H5849414686OMIM:618824BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 8, AUTOSOMAL RECESSIVE; IBGC8
HP:0002071HP:0001300Parkinsonism1JAM2 CL E G H5849414686OMIM:618824BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 8, AUTOSOMAL RECESSIVE; IBGC8
HP:0002071HP:0001300Parkinsonism1JPH3 CL E G H5733814203ORPHA:98934Huntington disease-like 2HP:0040283 - Occasional2
HP:0002071HP:0002067Bradykinesia1JPH3 CL E G H5733814203OMIM:606438Huntington disease-like 2.2
HP:0002071HP:0002067Bradykinesia1KBTBD13 CL E G H39059437227ORPHA:171439Childhood-onset nemaline myopathyHP:0040282 - Frequent80
HP:0002071HP:0002067Bradykinesia1KCNC3 CL E G H37486235ORPHA:98768Spinocerebellar ataxia type 13HP:0040284 - Very rare17
HP:0002071HP:0002067Bradykinesia1KCNN2 CL E G H37816291OMIM:619725NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE MOVEMENT OR BEHAVIORAL ABNORMALITIES; NEDMAB
HP:0002071HP:0001300Parkinsonism1KCNN2 CL E G H37816291OMIM:619725NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE MOVEMENT OR BEHAVIORAL ABNORMALITIES; NEDMAB
HP:0002071HP:0001300Parkinsonism1KIF5A CL E G H37986323ORPHA:100991Autosomal dominant spastic paraplegia type 10HP:0040284 - Very rare93
HP:0002071HP:0001300Parkinsonism1KIF5A CL E G H37986323OMIM:604187Spastic paraplegia 10, autosomal dominantHP:0040283 - Occasional93
HP:0002071HP:0002267Exaggerated startle response1KLC2 CL E G H6483720716OMIM:609541Spastic paraplegia, optic atrophy, and neuropathy.1
HP:0002071HP:0002267Exaggerated startle response1KLC2 CL E G H6483720716ORPHA:320406Spastic paraplegia-optic atrophy-neuropathy syndromeHP:0040282 - Frequent1
HP:0002071HP:0002067Bradykinesia1KLHL41 CL E G H1032416905ORPHA:171439Childhood-onset nemaline myopathyHP:0040282 - Frequent13
HP:0002071HP:0001300Parkinsonism1LRRK2 CL E G H12089218618ORPHA:411602Hereditary late-onset Parkinson diseaseHP:0040280 - Obligate221
HP:0002071HP:0002067Bradykinesia1LRRK2 CL E G H12089218618ORPHA:411602Hereditary late-onset Parkinson diseaseHP:0040283 - Occasional221
HP:0002071HP:0001300Parkinsonism1LRRK2 CL E G H12089218618OMIM:607060Parkinson disease 8, autosomal dominant.221
HP:0002071HP:0002067Bradykinesia1LRRK2 CL E G H12089218618OMIM:607060Parkinson disease 8, autosomal dominant.221
HP:0002071HP:0002067Bradykinesia1LRRK2 CL E G H12089218618ORPHA:2828Young-onset Parkinson diseaseHP:0040283 - Occasional221
HP:0002071HP:0007076Extrapyramidal muscular rigidity1LSM11 CL E G H13435330860ORPHA:51Aicardi-Goutières syndromeHP:0040282 - Frequent
HP:0002071HP:0001300Parkinsonism1LYST CL E G H11301968ORPHA:167Chédiak-Higashi syndromeHP:0040283 - Occasional239
HP:0002071HP:0002067Bradykinesia1MAPT CL E G H41376893ORPHA:240071Classic progressive supranuclear palsy syndromeHP:0040282 - Frequent140
HP:0002071HP:0001300Parkinsonism1MAPT CL E G H41376893ORPHA:240071Classic progressive supranuclear palsy syndromeHP:0040282 - Frequent140
HP:0002071HP:0007076Extrapyramidal muscular rigidity1MAPT CL E G H41376893ORPHA:240071Classic progressive supranuclear palsy syndrome140
HP:0002071HP:0001300Parkinsonism1MAPT CL E G H41376893OMIM:600274Frontotemporal dementia.140
HP:0002071HP:0001300Parkinsonism1MAPT CL E G H41376893OMIM:168600Parkinson disease, late-onset.140
HP:0002071HP:0002067Bradykinesia1MAPT CL E G H41376893OMIM:168600Parkinson disease, late-onset.140
HP:0002071HP:0001300Parkinsonism1MAPT CL E G H41376893ORPHA:100070Progressive non-fluent aphasiaHP:0040283 - Occasional140
HP:0002071HP:0007076Extrapyramidal muscular rigidity1MAPT CL E G H41376893ORPHA:240103Progressive supranuclear palsy-corticobasal syndrome140
HP:0002071HP:0002067Bradykinesia1MAPT CL E G H41376893ORPHA:240103Progressive supranuclear palsy-corticobasal syndromeHP:0040280 - Obligate140
HP:0002071HP:0001300Parkinsonism1MAPT CL E G H41376893ORPHA:240103Progressive supranuclear palsy-corticobasal syndrome140
HP:0002071HP:0001300Parkinsonism1MAPT CL E G H41376893ORPHA:240085Progressive supranuclear palsy-parkinsonism syndrome140
HP:0002071HP:0002067Bradykinesia1MAPT CL E G H41376893ORPHA:240085Progressive supranuclear palsy-parkinsonism syndromeHP:0040282 - Frequent140
HP:0002071HP:0001300Parkinsonism1MAPT CL E G H41376893ORPHA:240112Progressive supranuclear palsy-progressive non-fluent aphasia syndromeHP:0040283 - Occasional140
HP:0002071HP:0007076Extrapyramidal muscular rigidity1MAPT CL E G H41376893ORPHA:240112Progressive supranuclear palsy-progressive non-fluent aphasia syndrome140
HP:0002071HP:0001300Parkinsonism1MAPT CL E G H41376893OMIM:260540Supranuclear palsy, progressive atypical.140
HP:0002071HP:0001300Parkinsonism1MAPT CL E G H41376893OMIM:601104Supranuclear palsy, progressive, 1.140
HP:0002071HP:0002067Bradykinesia1MAPT CL E G H41376893OMIM:601104Supranuclear palsy, progressive, 1.140
HP:0002071HP:0002067Bradykinesia1MECP2 CL E G H42046990OMIM:300055Mental retardation, X-linked, syndromic 13950
HP:0002071HP:0001300Parkinsonism1MECP2 CL E G H42046990OMIM:300055Mental retardation, X-linked, syndromic 13.950
HP:0002071HP:0002067Bradykinesia1MECP2 CL E G H42046990ORPHA:778Rett syndromeHP:0040282 - Frequent950
HP:0002071HP:0001300Parkinsonism1MECP2 CL E G H42046990ORPHA:3077X-linked intellectual disability-psychosis-macroorchidism syndromeHP:0040283 - Occasional950
HP:0002071HP:0007153Progressive extrapyramidal movement disorder1MICU1 CL E G H103671530ORPHA:401768Proximal myopathy with extrapyramidal signsHP:0040282 - Frequent14
HP:0002071HP:0007076Extrapyramidal muscular rigidity1MICU1 CL E G H103671530ORPHA:401768Proximal myopathy with extrapyramidal signs14
HP:0002071HP:0001300Parkinsonism1MPO CL E G H43537218OMIM:104300Alzheimer disease.11
HP:0002071HP:0002267Exaggerated startle response1MTHFS CL E G H105887437OMIM:618367Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination.
HP:0002071HP:0001300Parkinsonism1MYORG CL E G H5746219918OMIM:618317Basal ganglia calcification, idiopathic, 7, autosomal recessive.
HP:0002071HP:0002067Bradykinesia1MYORG CL E G H5746219918OMIM:618317Basal ganglia calcification, idiopathic, 7, autosomal recessive.
HP:0002071HP:0002067Bradykinesia1MYPN CL E G H8466523246ORPHA:171439Childhood-onset nemaline myopathyHP:0040282 - Frequent217
HP:0002071HP:0002067Bradykinesia1NEB CL E G H47037720ORPHA:171439Childhood-onset nemaline myopathyHP:0040282 - Frequent745
HP:0002071HP:0001300Parkinsonism1NOS3 CL E G H48467876OMIM:104300Alzheimer disease.8
HP:0002071HP:0001300Parkinsonism1NOTCH3 CL E G H48547883ORPHA:136Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathyHP:0040283 - Occasional144
HP:0002071HP:0002067Bradykinesia1NR4A2 CL E G H49297981OMIM:61991127
HP:0002071HP:0001300Parkinsonism1NR4A2 CL E G H49297981OMIM:61991127
HP:0002071HP:0001300Parkinsonism1NR4A2 CL E G H49297981ORPHA:98808Autosomal dominant dopa-responsive dystoniaHP:0040282 - Frequent27
HP:0002071HP:0002067Bradykinesia1NR4A2 CL E G H49297981ORPHA:98808Autosomal dominant dopa-responsive dystoniaHP:0040283 - Occasional27
HP:0002071HP:0001300Parkinsonism1NR4A2 CL E G H49297981OMIM:168600Parkinson disease, late-onset.27
HP:0002071HP:0002067Bradykinesia1NR4A2 CL E G H49297981OMIM:168600Parkinson disease, late-onset.27
HP:0002071HP:0007076Extrapyramidal muscular rigidity1OPA3 CL E G H802078142ORPHA:67036Autosomal dominant optic atrophy and cataractHP:0040283 - Occasional163
HP:0002071HP:0001300Parkinsonism1PANK2 CL E G H8002515894ORPHA:216873Atypical pantothenate kinase-associated neurodegenerationHP:0040282 - Frequent55
HP:0002071HP:0001300Parkinsonism1PANK2 CL E G H8002515894OMIM:234200Neurodegeneration with brain iron accumulation 1.55
HP:0002071HP:0002067Bradykinesia1PANK2 CL E G H8002515894OMIM:234200Neurodegeneration with brain iron accumulation 1.55
HP:0002071HP:0001300Parkinsonism1PARK7 CL E G H1131516369OMIM:606324PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET; PARK723
HP:0002071HP:0002067Bradykinesia1PARK7 CL E G H1131516369OMIM:606324PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET; PARK723
HP:0002071HP:0002067Bradykinesia1PARK7 CL E G H1131516369ORPHA:2828Young-onset Parkinson diseaseHP:0040283 - Occasional23
HP:0002071HP:0001300Parkinsonism1PCBD1 CL E G H50928646ORPHA:1578Pterin-4 alpha-carbinolamine dehydratase deficiencyHP:0040284 - Very rare24
HP:0002071HP:0002067Bradykinesia1PCDH19 CL E G H5752614270ORPHA:33069Dravet syndromeHP:0040282 - Frequent225
HP:0002071HP:0001300Parkinsonism1PCDH19 CL E G H5752614270ORPHA:33069Dravet syndromeHP:0040282 - Frequent225
HP:0002071HP:0001300Parkinsonism1PDE10A CL E G H108468772ORPHA:494541Childhood-onset benign chorea with striatal involvement5
HP:0002071HP:0001300Parkinsonism1PDE10A CL E G H108468772OMIM:616922Striatal degeneration, autosomal dominant 25
HP:0002071HP:0002067Bradykinesia1PDE8B CL E G H86228794ORPHA:228169Autosomal dominant striatal neurodegenerationHP:0040281 - Very frequent75
HP:0002071HP:0002067Bradykinesia1PDE8B CL E G H86228794OMIM:609161Striatal degeneration, autosomal dominant.75
HP:0002071HP:0001300Parkinsonism1PDGFB CL E G H51558800OMIM:213600Basal ganglia calcification, idiopathic, 1.9
HP:0002071HP:0002067Bradykinesia1PDGFB CL E G H51558800OMIM:213600Basal ganglia calcification, idiopathic, 1.9
HP:0002071HP:0001300Parkinsonism1PDGFB CL E G H51558800OMIM:615483Basal ganglia calcification, idiopathic, 5.9
HP:0002071HP:0001300Parkinsonism1PDGFRB CL E G H51598804OMIM:213600Basal ganglia calcification, idiopathic, 1.28
HP:0002071HP:0002067Bradykinesia1PDGFRB CL E G H51598804OMIM:213600Basal ganglia calcification, idiopathic, 1.28
HP:0002071HP:0001300Parkinsonism1PDGFRB CL E G H51598804OMIM:615007Basal ganglia calcification, idiopathic, 4HP:0040283 - Occasional28
HP:0002071HP:0002067Bradykinesia1PET117 CL E G H10030375540045OMIM:619063MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 19; MC4DN19
HP:0002071HP:0002067Bradykinesia1PIDD1 CL E G H5536716491OMIM:619827INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 75, WITH NEUROPSYCHIATRIC FEATURES AND VARIANT LISSENCEPHALY; MRT75
HP:0002071HP:0002067Bradykinesia1PINK1 CL E G H6501814581OMIM:605909Parkinson disease 6, autosomal recessive early-onset.55
HP:0002071HP:0001300Parkinsonism1PINK1 CL E G H6501814581OMIM:605909Parkinson disease 6, autosomal recessive early-onset.55
HP:0002071HP:0002067Bradykinesia1PINK1 CL E G H6501814581ORPHA:2828Young-onset Parkinson diseaseHP:0040283 - Occasional55
HP:0002071HP:0007153Progressive extrapyramidal movement disorder1PLA2G6 CL E G H83989039ORPHA:199351Adult-onset dystonia-parkinsonismHP:0040282 - Frequent133
HP:0002071HP:0002067Bradykinesia1PLA2G6 CL E G H83989039ORPHA:199351Adult-onset dystonia-parkinsonismHP:0040282 - Frequent133
HP:0002071HP:0001300Parkinsonism1PLA2G6 CL E G H83989039ORPHA:199351Adult-onset dystonia-parkinsonism133
HP:0002071HP:0002067Bradykinesia1PLA2G6 CL E G H83989039OMIM:610217Neurodegeneration with brain iron accumulation 2B.133
HP:0002071HP:0001300Parkinsonism1PLA2G6 CL E G H83989039OMIM:612953Parkinson disease 14, autosomal recessive.133
HP:0002071HP:0002067Bradykinesia1PLA2G6 CL E G H83989039OMIM:612953Parkinson disease 14, autosomal recessive.133
HP:0002071HP:0002267Exaggerated startle response1PLAA CL E G H93739043OMIM:617527Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies3
HP:0002071HP:0002267Exaggerated startle response1PLAA CL E G H93739043ORPHA:521426PLAA-associated neurodevelopmental disorderHP:0040282 - Frequent3
HP:0002071HP:0001300Parkinsonism1PLAU CL E G H53289052OMIM:104300Alzheimer disease.50
HP:0002071HP:0002067Bradykinesia1PODXL CL E G H54209171ORPHA:391411Atypical juvenile parkinsonismHP:0040281 - Very frequent6
HP:0002071HP:0002067Bradykinesia1PODXL CL E G H54209171ORPHA:2828Young-onset Parkinson diseaseHP:0040283 - Occasional6
HP:0002071HP:0002067Bradykinesia1POLG CL E G H54289179ORPHA:254892Autosomal dominant progressive external ophthalmoplegiaHP:0040282 - Frequent464
HP:0002071HP:0002067Bradykinesia1POLG CL E G H54289179ORPHA:254886Autosomal recessive progressive external ophthalmoplegiaHP:0040283 - Occasional464
HP:0002071HP:0001300Parkinsonism1POLG CL E G H54289179ORPHA:254886Autosomal recessive progressive external ophthalmoplegia464
HP:0002071HP:0002067Bradykinesia1POLG CL E G H54289179OMIM:157640Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1.464
HP:0002071HP:0001300Parkinsonism1POLG CL E G H54289179OMIM:157640Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1.464
HP:0002071HP:0001300Parkinsonism1POLG CL E G H54289179OMIM:258450Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive.464
HP:0002071HP:0002067Bradykinesia1POLG CL E G H54289179OMIM:258450Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive.464
HP:0002071HP:0002067Bradykinesia1POLG2 CL E G H112329180ORPHA:254892Autosomal dominant progressive external ophthalmoplegiaHP:0040282 - Frequent45
HP:0002071HP:0001300Parkinsonism1PPP2R2B CL E G H55219305OMIM:604326Spinocerebellar ataxia 12.5
HP:0002071HP:0001300Parkinsonism1PPP2R2B CL E G H55219305ORPHA:98762Spinocerebellar ataxia type 12HP:0040282 - Frequent5
HP:0002071HP:0002067Bradykinesia1PPP2R2B CL E G H55219305ORPHA:98762Spinocerebellar ataxia type 12HP:0040283 - Occasional5
HP:0002071HP:0002067Bradykinesia1PRDX3 CL E G H109359354OMIM:619862
HP:0002071HP:0001300Parkinsonism1PRKAR1B CL E G H55759390ORPHA:412066PRKAR1B-related neurodegenerative dementia with intermediate filamentsHP:0040282 - Frequent2
HP:0002071HP:0002067Bradykinesia1PRKAR1B CL E G H55759390ORPHA:412066PRKAR1B-related neurodegenerative dementia with intermediate filamentsHP:0040282 - Frequent2
HP:0002071HP:0001300Parkinsonism1PRKN CL E G H50718607OMIM:600116Parkinson disease, juvenile, type 2138
HP:0002071HP:0002067Bradykinesia1PRKN CL E G H50718607OMIM:600116Parkinson disease, juvenile, type 2138
HP:0002071HP:0002067Bradykinesia1PRKN CL E G H50718607ORPHA:2828Young-onset Parkinson diseaseHP:0040283 - Occasional138
HP:0002071HP:0001300Parkinsonism1PRKRA CL E G H85759438ORPHA:210571Dystonia 16HP:0040282 - Frequent37
HP:0002071HP:0002067Bradykinesia1PRKRA CL E G H85759438OMIM:612067Dystonia 16.37
HP:0002071HP:0001300Parkinsonism1PRKRA CL E G H85759438OMIM:612067Dystonia 16.37
HP:0002071HP:0002067Bradykinesia1PRKRA CL E G H85759438ORPHA:210571Dystonia 16HP:0040282 - Frequent37
HP:0002071HP:0007076Extrapyramidal muscular rigidity1PRNP CL E G H56219449OMIM:123400Creutzfeldt-Jakob disease.69
HP:0002071HP:0002067Bradykinesia1PRNP CL E G H56219449OMIM:137440Gerstmann-Straussler disease.69
HP:0002071HP:0001300Parkinsonism1PRNP CL E G H56219449OMIM:137440Gerstmann-Straussler disease.69
HP:0002071HP:0002067Bradykinesia1PRNP CL E G H56219449ORPHA:157941Huntington disease-like 1HP:0040283 - Occasional69
HP:0002071HP:0007076Extrapyramidal muscular rigidity1PRNP CL E G H56219449ORPHA:282166Inherited Creutzfeldt-Jakob disease69
HP:0002071HP:0002067Bradykinesia1PRNP CL E G H56219449ORPHA:282166Inherited Creutzfeldt-Jakob diseaseHP:0040282 - Frequent69
HP:0002071HP:0001300Parkinsonism1PSAP CL E G H56609498OMIM:619491PARKINSON DISEASE 24, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO; PARK2481
HP:0002071HP:0001300Parkinsonism1PSEN1 CL E G H56639508ORPHA:1020Early-onset autosomal dominant Alzheimer diseaseHP:0040281 - Very frequent241
HP:0002071HP:0001300Parkinsonism1PSEN1 CL E G H56639508OMIM:600274Frontotemporal dementia.241
HP:0002071HP:0001300Parkinsonism1PSEN1 CL E G H56639508ORPHA:100070Progressive non-fluent aphasiaHP:0040283 - Occasional241
HP:0002071HP:0001300Parkinsonism1PSEN2 CL E G H56649509ORPHA:1020Early-onset autosomal dominant Alzheimer diseaseHP:0040281 - Very frequent59
HP:0002071HP:0002067Bradykinesia1PTS CL E G H58059689ORPHA:136-pyruvoyl-tetrahydropterin synthase deficiencyHP:0040283 - Occasional19
HP:0002071HP:0002067Bradykinesia1PTS CL E G H58059689OMIM:261640Hyperphenylalaninemia, BH4-deficient, A.19
HP:0002071HP:0001300Parkinsonism1PTS CL E G H58059689OMIM:261640Hyperphenylalaninemia, BH4-deficient, A.19
HP:0002071HP:0002267Exaggerated startle response1PURA CL E G H58139701ORPHA:438216PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutationHP:0040283 - Occasional53
HP:0002071HP:0002067Bradykinesia1RAB39B CL E G H11644216499OMIM:311510Waisman syndrome.34
HP:0002071HP:0001300Parkinsonism1RAB39B CL E G H11644216499OMIM:311510Waisman syndrome.34
HP:0002071HP:0007153Progressive extrapyramidal movement disorder1RARS1 CL E G H59179870ORPHA:438114RARS-related autosomal recessive hypomyelinating leukodystrophyHP:0040282 - Frequent
HP:0002071HP:0011445Athetoid cerebral palsy1RBM10 CL E G H82419896ORPHA:2886TARP syndromeHP:0040284 - Very rare16
HP:0002071HP:0007076Extrapyramidal muscular rigidity1RNASEH2A CL E G H1053518518ORPHA:51Aicardi-Goutières syndromeHP:0040282 - Frequent33
HP:0002071HP:0007076Extrapyramidal muscular rigidity1RNASEH2B CL E G H7962125671ORPHA:51Aicardi-Goutières syndromeHP:0040282 - Frequent34
HP:0002071HP:0007076Extrapyramidal muscular rigidity1RNASEH2C CL E G H8415324116ORPHA:51Aicardi-Goutières syndromeHP:0040282 - Frequent60
HP:0002071HP:0007076Extrapyramidal muscular rigidity1RNU7-1 CL E G H10014774434033ORPHA:51Aicardi-Goutières syndromeHP:0040282 - Frequent
HP:0002071HP:0002067Bradykinesia1RRM2B CL E G H5048417296ORPHA:254892Autosomal dominant progressive external ophthalmoplegiaHP:0040282 - Frequent125
HP:0002071HP:0007076Extrapyramidal muscular rigidity1SAMHD1 CL E G H2593915925ORPHA:51Aicardi-Goutières syndromeHP:0040282 - Frequent55
HP:0002071HP:0002067Bradykinesia1SCN1A CL E G H632310585ORPHA:33069Dravet syndromeHP:0040282 - Frequent1053
HP:0002071HP:0001300Parkinsonism1SCN1A CL E G H632310585ORPHA:33069Dravet syndromeHP:0040282 - Frequent1053
HP:0002071HP:0002067Bradykinesia1SCN1A CL E G H632310585ORPHA:36387Generalized epilepsy with febrile seizures-plusHP:0040284 - Very rare1053
HP:0002071HP:0002067Bradykinesia1SCN1B CL E G H632410586ORPHA:33069Dravet syndromeHP:0040282 - Frequent126
HP:0002071HP:0001300Parkinsonism1SCN1B CL E G H632410586ORPHA:33069Dravet syndromeHP:0040282 - Frequent126
HP:0002071HP:0002067Bradykinesia1SCN1B CL E G H632410586ORPHA:36387Generalized epilepsy with febrile seizures-plusHP:0040284 - Very rare126
HP:0002071HP:0002067Bradykinesia1SCN2A CL E G H632610588ORPHA:33069Dravet syndromeHP:0040282 - Frequent427
HP:0002071HP:0001300Parkinsonism1SCN2A CL E G H632610588ORPHA:33069Dravet syndromeHP:0040282 - Frequent427
HP:0002071HP:0002067Bradykinesia1SCN2A CL E G H632610588ORPHA:36387Generalized epilepsy with febrile seizures-plusHP:0040284 - Very rare427
HP:0002071HP:0002067Bradykinesia1SCN9A CL E G H633510597ORPHA:33069Dravet syndromeHP:0040282 - Frequent318
HP:0002071HP:0001300Parkinsonism1SCN9A CL E G H633510597ORPHA:33069Dravet syndromeHP:0040282 - Frequent318
HP:0002071HP:0002067Bradykinesia1SCN9A CL E G H633510597ORPHA:36387Generalized epilepsy with febrile seizures-plusHP:0040284 - Very rare318
HP:0002071HP:0001300Parkinsonism1SIGMAR1 CL E G H102808157ORPHA:300605Juvenile amyotrophic lateral sclerosisHP:0040283 - Occasional6
HP:0002071HP:0001300Parkinsonism1SLC18A2 CL E G H657110935ORPHA:352649Brain dopamine-serotonin vesicular transport diseaseHP:0040281 - Very frequent2
HP:0002071HP:0001300Parkinsonism1SLC18A2 CL E G H657110935OMIM:618049Parkinsonism-Dystonia, infantile, 2.2
HP:0002071HP:0001300Parkinsonism1SLC20A2 CL E G H657510947OMIM:213600Basal ganglia calcification, idiopathic, 1.70
HP:0002071HP:0002067Bradykinesia1SLC20A2 CL E G H657510947OMIM:213600Basal ganglia calcification, idiopathic, 1.70
HP:0002071HP:0002067Bradykinesia1SLC25A4 CL E G H29110990ORPHA:254892Autosomal dominant progressive external ophthalmoplegiaHP:0040282 - Frequent68
HP:0002071HP:0007308Extrapyramidal dyskinesia1SLC2A1 CL E G H651311005ORPHA:71277Classic glucose transporter type 1 deficiency syndromeHP:0040282 - Frequent255
HP:0002071HP:0002067Bradykinesia1SLC2A3 CL E G H651511007ORPHA:399Huntington diseaseHP:0040282 - Frequent1
HP:0002071HP:0002067Bradykinesia1SLC30A10 CL E G H5553225355ORPHA:309854Cirrhosis-dystonia-polycythemia-hypermanganesemia syndromeHP:0040282 - Frequent42
HP:0002071HP:0001300Parkinsonism1SLC30A10 CL E G H5553225355OMIM:613280Hypermanganesemia with dystonia 1.42
HP:0002071HP:0002067Bradykinesia1SLC30A10 CL E G H5553225355OMIM:613280Hypermanganesemia with dystonia 142
HP:0002071HP:0002067Bradykinesia1SLC39A14 CL E G H2351620858ORPHA:521406Dystonia-parkinsonism-hypermanganesemia syndromeHP:0040282 - Frequent5
HP:0002071HP:0001300Parkinsonism1SLC39A14 CL E G H2351620858ORPHA:521406Dystonia-parkinsonism-hypermanganesemia syndromeHP:0040282 - Frequent5
HP:0002071HP:0001300Parkinsonism1SLC39A14 CL E G H2351620858OMIM:617013Hypermanganesemia with dystonia 2.5
HP:0002071HP:0002067Bradykinesia1SLC39A14 CL E G H2351620858OMIM:617013Hypermanganesemia with dystonia 2.5
HP:0002071HP:0001300Parkinsonism1SLC6A3 CL E G H653111049ORPHA:238455Infantile dystonia-parkinsonismHP:0040281 - Very frequent13
HP:0002071HP:0002067Bradykinesia1SLC6A3 CL E G H653111049ORPHA:238455Infantile dystonia-parkinsonismHP:0040282 - Frequent13
HP:0002071HP:0002067Bradykinesia1SLC6A3 CL E G H653111049OMIM:613135Parkinsonism-Dystonia, infantile, 1.13
HP:0002071HP:0001300Parkinsonism1SLC6A3 CL E G H653111049OMIM:613135Parkinsonism-Dystonia, infantile, 1.13
HP:0002071HP:0002267Exaggerated startle response1SLC6A5 CL E G H915211051OMIM:614618Hyperekplexia 3.81
HP:0002071HP:0002267Exaggerated startle response1SLC6A9 CL E G H653611056OMIM:617301Glycine encephalopathy with normal serum glycine.4
HP:0002071HP:0001300Parkinsonism1SNCA CL E G H662211138OMIM:127750Dementia, lewy body.65
HP:0002071HP:0002067Bradykinesia1SNCA CL E G H662211138ORPHA:411602Hereditary late-onset Parkinson diseaseHP:0040283 - Occasional65
HP:0002071HP:0001300Parkinsonism1SNCA CL E G H662211138ORPHA:411602Hereditary late-onset Parkinson diseaseHP:0040280 - Obligate65
HP:0002071HP:0002067Bradykinesia1SNCA CL E G H662211138OMIM:168601Parkinson disease 1, autosomal dominant.65
HP:0002071HP:0001300Parkinsonism1SNCA CL E G H662211138OMIM:168601Parkinson disease 1, autosomal dominant.65
HP:0002071HP:0001300Parkinsonism1SNCA CL E G H662211138OMIM:605543Parkinson disease 4.65
HP:0002071HP:0001300Parkinsonism1SNCA CL E G H662211138ORPHA:171695Parkinsonian-pyramidal syndromeHP:0040280 - Obligate65
HP:0002071HP:0002067Bradykinesia1SNCA CL E G H662211138ORPHA:171695Parkinsonian-pyramidal syndromeHP:0040282 - Frequent65
HP:0002071HP:0002067Bradykinesia1SNCA CL E G H662211138ORPHA:2828Young-onset Parkinson diseaseHP:0040283 - Occasional65
HP:0002071HP:0002067Bradykinesia1SNCAIP CL E G H962711139OMIM:168600Parkinson disease, late-onset.35
HP:0002071HP:0001300Parkinsonism1SNCAIP CL E G H962711139OMIM:168600Parkinson disease, late-onset.35
HP:0002071HP:0001300Parkinsonism1SNCB CL E G H662011140OMIM:127750Dementia, lewy body.2
HP:0002071HP:0002267Exaggerated startle response1SOD1 CL E G H664711179OMIM:618598SPASTIC TETRAPLEGIA AND AXIAL HYPOTONIA, PROGRESSIVE; STAHP53
HP:0002071HP:0001300Parkinsonism1SORL1 CL E G H665311185ORPHA:1020Early-onset autosomal dominant Alzheimer diseaseHP:0040281 - Very frequent3
HP:0002071HP:0001300Parkinsonism1SPG11 CL E G H8020811226ORPHA:2822Autosomal recessive spastic paraplegia type 11HP:0040283 - Occasional287
HP:0002071HP:0001300Parkinsonism1SPG11 CL E G H8020811226ORPHA:300605Juvenile amyotrophic lateral sclerosisHP:0040283 - Occasional287
HP:0002071HP:0002067Bradykinesia1SPR CL E G H669711257ORPHA:70594Dopa-responsive dystonia due to sepiapterin reductase deficiencyHP:0040282 - Frequent28
HP:0002071HP:0001300Parkinsonism1SPTLC1 CL E G H1055811277ORPHA:300605Juvenile amyotrophic lateral sclerosisHP:0040283 - Occasional54
HP:0002071HP:0001300Parkinsonism1SQSTM1 CL E G H887811280ORPHA:275872Frontotemporal dementia with motor neuron diseaseHP:0040282 - Frequent62
HP:0002071HP:0001300Parkinsonism1STUB1 CL E G H1027311427OMIM:618093SPINOCEREBELLAR ATAXIA 48; SCA4814
HP:0002071HP:0002067Bradykinesia1STX1B CL E G H11275518539ORPHA:36387Generalized epilepsy with febrile seizures-plusHP:0040284 - Very rare9
HP:0002071HP:0002067Bradykinesia1SYNJ1 CL E G H886711503ORPHA:391411Atypical juvenile parkinsonismHP:0040281 - Very frequent9
HP:0002071HP:0002067Bradykinesia1SYNJ1 CL E G H886711503OMIM:615530Parkinson disease 20, early-onset.9
HP:0002071HP:0001300Parkinsonism1SYNJ1 CL E G H886711503OMIM:615530Parkinson disease 20, early-onset.9
HP:0002071HP:0002067Bradykinesia1SYNJ1 CL E G H886711503ORPHA:2828Young-onset Parkinson diseaseHP:0040283 - Occasional9
HP:0002071HP:0011445Athetoid cerebral palsy1SYT1 CL E G H685711509ORPHA:522077Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndromeHP:0040283 - Occasional1
HP:0002071HP:0002067Bradykinesia1TACO1 CL E G H5120424316OMIM:619052MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 8; MC4DN823
HP:0002071HP:0001300Parkinsonism1TAF1 CL E G H687211535OMIM:314250Dystonia 3, torsion, X-linked21
HP:0002071HP:0007076Extrapyramidal muscular rigidity1TAF1 CL E G H687211535ORPHA:53351X-linked dystonia-parkinsonism21
HP:0002071HP:0001300Parkinsonism1TAF1 CL E G H687211535ORPHA:53351X-linked dystonia-parkinsonism21
HP:0002071HP:0002067Bradykinesia1TAF1 CL E G H687211535ORPHA:53351X-linked dystonia-parkinsonismHP:0040282 - Frequent21
HP:0002071HP:0001300Parkinsonism1TARDBP CL E G H2343511571ORPHA:275872Frontotemporal dementia with motor neuron diseaseHP:0040282 - Frequent65
HP:0002071HP:0001300Parkinsonism1TBK1 CL E G H2911011584ORPHA:275872Frontotemporal dementia with motor neuron diseaseHP:0040282 - Frequent20
HP:0002071HP:0001300Parkinsonism1TBP CL E G H690811588OMIM:168600Parkinson disease, late-onset.7
HP:0002071HP:0002067Bradykinesia1TBP CL E G H690811588OMIM:168600Parkinson disease, late-onset.7
HP:0002071HP:0001300Parkinsonism1TBP CL E G H690811588OMIM:607136Spinocerebellar ataxia 17.7
HP:0002071HP:0002067Bradykinesia1TBP CL E G H690811588OMIM:607136Spinocerebellar ataxia 17.7
HP:0002071HP:0001300Parkinsonism1TBP CL E G H690811588ORPHA:98759Spinocerebellar ataxia type 17HP:0040282 - Frequent7
HP:0002071HP:0002067Bradykinesia1TH CL E G H705411782ORPHA:101150Autosomal recessive dopa-responsive dystoniaHP:0040282 - Frequent80
HP:0002071HP:0001300Parkinsonism1TH CL E G H705411782ORPHA:101150Autosomal recessive dopa-responsive dystoniaHP:0040282 - Frequent80
HP:0002071HP:0001300Parkinsonism1TH CL E G H705411782OMIM:605407Segawa syndrome, autosomal recessive.80
HP:0002071HP:0001300Parkinsonism1TK2 CL E G H708411831ORPHA:254886Autosomal recessive progressive external ophthalmoplegia103
HP:0002071HP:0002067Bradykinesia1TK2 CL E G H708411831ORPHA:254886Autosomal recessive progressive external ophthalmoplegiaHP:0040283 - Occasional103
HP:0002071HP:0001300Parkinsonism1TMEM106B CL E G H5466422407ORPHA:100070Progressive non-fluent aphasiaHP:0040283 - Occasional
HP:0002071HP:0001300Parkinsonism1TMEM240 CL E G H33945325186OMIM:607454Spinocerebellar ataxia 21.9
HP:0002071HP:0002267Exaggerated startle response1TNIK CL E G H2304330765OMIM:617028Mental retardation, autosomal recessive 542
HP:0002071HP:0001300Parkinsonism1TNR CL E G H714311953OMIM:619653NEURODEVELOPMENTAL DISORDER, NONPROGRESSIVE, WITH SPASTICITY AND TRANSIENT OPISTHOTONUS; NEDSTO7
HP:0002071HP:0001300Parkinsonism1TOMM40 CL E G H1045218001ORPHA:1020Early-onset autosomal dominant Alzheimer diseaseHP:0040281 - Very frequent
HP:0002071HP:0002067Bradykinesia1TPM2 CL E G H716912011ORPHA:171439Childhood-onset nemaline myopathyHP:0040282 - Frequent54
HP:0002071HP:0002067Bradykinesia1TPM3 CL E G H717012012ORPHA:171439Childhood-onset nemaline myopathyHP:0040282 - Frequent108
HP:0002071HP:0002267Exaggerated startle response1TRAK1 CL E G H2290629947OMIM:618201Epileptic encephalopathy, early infantile, 68.
HP:0002071HP:0001300Parkinsonism1TREM2 CL E G H5420917761ORPHA:1020Early-onset autosomal dominant Alzheimer diseaseHP:0040281 - Very frequent31
HP:0002071HP:0001300Parkinsonism1TREM2 CL E G H5420917761ORPHA:100070Progressive non-fluent aphasiaHP:0040283 - Occasional31
HP:0002071HP:0007076Extrapyramidal muscular rigidity1TREX1 CL E G H1127712269ORPHA:51Aicardi-Goutières syndromeHP:0040282 - Frequent56
HP:0002071HP:0001300Parkinsonism1TRNT CL E G H45767499OMIM:168600Parkinson disease, late-onset.
HP:0002071HP:0002067Bradykinesia1TRNT CL E G H45767499OMIM:168600Parkinson disease, late-onset.
HP:0002071HP:0001300Parkinsonism1TRPM7 CL E G H5482217994OMIM:105500Amyotrophic lateral sclerosis-parkinsonism/dementia complex 1.2
HP:0002071HP:0007308Extrapyramidal dyskinesia1TSEN2 CL E G H8074628422OMIM:612389Pontocerebellar hypoplasia, type 2B.84
HP:0002071HP:0007308Extrapyramidal dyskinesia1TSEN54 CL E G H28398927561OMIM:277470Pontocerebellar hypoplasia, type 2A.102
HP:0002071HP:0002067Bradykinesia1TSPOAP1 CL E G H925616831ORPHA:101150Autosomal recessive dopa-responsive dystoniaHP:0040282 - Frequent2
HP:0002071HP:0001300Parkinsonism1TSPOAP1 CL E G H925616831ORPHA:101150Autosomal recessive dopa-responsive dystoniaHP:0040282 - Frequent2
HP:0002071HP:0002267Exaggerated startle response1TSPYL1 CL E G H725912382OMIM:608800Sudden infant death with dysgenesis of the testes syndrome1
HP:0002071HP:0002067Bradykinesia1TTC19 CL E G H5490226006OMIM:615157Mitochondrial complex III deficiency, nuclear type 2.88
HP:0002071HP:0002067Bradykinesia1TWNK CL E G H566521160ORPHA:254892Autosomal dominant progressive external ophthalmoplegiaHP:0040282 - Frequent113
HP:0002071HP:0001300Parkinsonism1TWNK CL E G H566521160OMIM:609286Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3HP:0040284 - Very rare113
HP:0002071HP:0001300Parkinsonism1UBTF CL E G H734312511OMIM:617672Neurodegeneration, childhood-onset, with brain atrophy.1
HP:0002071HP:0001300Parkinsonism1UCHL1 CL E G H734512513OMIM:613643PARKINSON DISEASE 5, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO; PARK521
HP:0002071HP:0002067Bradykinesia1UCHL1 CL E G H734512513OMIM:613643PARKINSON DISEASE 5, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO; PARK521
HP:0002071HP:0002067Bradykinesia1UCHL1 CL E G H734512513ORPHA:2828Young-onset Parkinson diseaseHP:0040283 - Occasional21
HP:0002071HP:0001300Parkinsonism1UQCRC1 CL E G H738412585OMIM:619279PARKINSONISM WITH POLYNEUROPATHY; PKNPY
HP:0002071HP:0002067Bradykinesia1UQCRC1 CL E G H738412585OMIM:619279PARKINSONISM WITH POLYNEUROPATHY; PKNPY
HP:0002071HP:0001300Parkinsonism1VCP CL E G H741512666ORPHA:329478Adult-onset distal myopathy due to VCP mutationHP:0040283 - Occasional63
HP:0002071HP:0001300Parkinsonism1VCP CL E G H741512666ORPHA:275872Frontotemporal dementia with motor neuron diseaseHP:0040282 - Frequent63
HP:0002071HP:0001300Parkinsonism1VCP CL E G H741512666ORPHA:100070Progressive non-fluent aphasiaHP:0040283 - Occasional63
HP:0002071HP:0001300Parkinsonism1VPS13A CL E G H232301908ORPHA:2388ChoreoacanthocytosisHP:0040282 - Frequent130
HP:0002071HP:0002067Bradykinesia1VPS13A CL E G H232301908ORPHA:2388ChoreoacanthocytosisHP:0040283 - Occasional130
HP:0002071HP:0001300Parkinsonism1VPS13A CL E G H232301908OMIM:200150CHOREOACANTHOCYTOSIS.130
HP:0002071HP:0001300Parkinsonism1VPS13C CL E G H5483223594OMIM:616840Parkinson disease 23, autosomal recessive early-onset8
HP:0002071HP:0002067Bradykinesia1VPS13C CL E G H5483223594ORPHA:2828Young-onset Parkinson diseaseHP:0040283 - Occasional8
HP:0002071HP:0002067Bradykinesia1VPS35 CL E G H5573713487ORPHA:411602Hereditary late-onset Parkinson diseaseHP:0040283 - Occasional37
HP:0002071HP:0001300Parkinsonism1VPS35 CL E G H5573713487ORPHA:411602Hereditary late-onset Parkinson diseaseHP:0040280 - Obligate37
HP:0002071HP:0002067Bradykinesia1VPS35 CL E G H5573713487OMIM:614203Parkinson disease 17.37
HP:0002071HP:0001300Parkinsonism1VPS35 CL E G H5573713487OMIM:614203Parkinson disease 17.37
HP:0002071HP:0001300Parkinsonism1WARS2 CL E G H1035212730OMIM:619738PARKINSONISM-DYSTONIA 3, CHILDHOOD-ONSET; PKDYS32
HP:0002071HP:0001300Parkinsonism1WDR45 CL E G H1115228912ORPHA:329284Beta-propeller protein-associated neurodegenerationHP:0040282 - Frequent51
HP:0002071HP:0002067Bradykinesia1WDR45 CL E G H1115228912ORPHA:329284Beta-propeller protein-associated neurodegenerationHP:0040282 - Frequent51
HP:0002071HP:0001300Parkinsonism1WDR45 CL E G H1115228912OMIM:300894Neurodegeneration with brain iron accumulation 5.51
HP:0002071HP:0002067Bradykinesia1WDR45 CL E G H1115228912OMIM:300894Neurodegeneration with brain iron accumulation 5.51
HP:0002071HP:0007153Progressive extrapyramidal movement disorder1WDR73 CL E G H8494225928ORPHA:83472CAMOS syndromeHP:0040281 - Very frequent14
HP:0002071HP:0001300Parkinsonism1XPR1 CL E G H921312827OMIM:616413Basal ganglia calcification, idiopathic, 6.4
HP:0002071HP:0002267Exaggerated startle response1ZMYM2 CL E G H775012989OMIM:619522NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC
HP:0002071HP:0007153Progressive extrapyramidal movement disorder1ZNF592 CL E G H964028986ORPHA:83472CAMOS syndromeHP:0040281 - Very frequent4
HP:0002071HP:0002548Parkinsonism with favorable response to dopaminergic medication2ATP13A2 CL E G H2340030213ORPHA:314632ATP13A2-related juvenile neuronal ceroid lipofuscinosisHP:0040282 - Frequent100
HP:0002071HP:0002548Parkinsonism with favorable response to dopaminergic medication2ATP13A2 CL E G H2340030213OMIM:606693Kufor-Rakeb syndrome.100
HP:0002071HP:0002548Parkinsonism with favorable response to dopaminergic medication2ATP7B CL E G H540870OMIM:277900Wilson disease315
HP:0002071HP:0002548Parkinsonism with favorable response to dopaminergic medication2DNAJC13 CL E G H2331730343ORPHA:411602Hereditary late-onset Parkinson diseaseHP:0040282 - Frequent2
HP:0002071HP:0002548Parkinsonism with favorable response to dopaminergic medication2EIF4G1 CL E G H19813296ORPHA:411602Hereditary late-onset Parkinson diseaseHP:0040282 - Frequent2
HP:0002071HP:0002548Parkinsonism with favorable response to dopaminergic medication2FBXO7 CL E G H2579313586OMIM:260300Parkinson disease 15, autosomal recessive early-onset.36
HP:0002071HP:0002548Parkinsonism with favorable response to dopaminergic medication2GBA1 CL E G H26294177ORPHA:411602Hereditary late-onset Parkinson diseaseHP:0040282 - Frequent
HP:0002071HP:0002548Parkinsonism with favorable response to dopaminergic medication2GCH1 CL E G H26434193OMIM:128230Dystonia, DOPA-responsive, with or without hyperphenylalaninemia86
HP:0002071HP:0002548Parkinsonism with favorable response to dopaminergic medication2GIGYF2 CL E G H2605811960ORPHA:411602Hereditary late-onset Parkinson diseaseHP:0040282 - Frequent8
HP:0002071HP:0002548Parkinsonism with favorable response to dopaminergic medication2GIGYF2 CL E G H2605811960OMIM:607688PARKINSON DISEASE 11, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO; PARK118
HP:0002071HP:0002548Parkinsonism with favorable response to dopaminergic medication2HTRA2 CL E G H2742914348OMIM:610297PARKINSON DISEASE 13, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO; PARK1339
HP:0002071HP:0002548Parkinsonism with favorable response to dopaminergic medication2LRRK2 CL E G H12089218618ORPHA:411602Hereditary late-onset Parkinson diseaseHP:0040282 - Frequent221
HP:0002071HP:0002548Parkinsonism with favorable response to dopaminergic medication2LRRK2 CL E G H12089218618OMIM:607060Parkinson disease 8, autosomal dominant.221
HP:0002071HP:0007158Progressive extrapyramidal muscular rigidity2MAPT CL E G H41376893ORPHA:240071Classic progressive supranuclear palsy syndromeHP:0040282 - Frequent140
HP:0002071HP:0002548Parkinsonism with favorable response to dopaminergic medication2MAPT CL E G H41376893ORPHA:240071Classic progressive supranuclear palsy syndromeHP:0040283 - Occasional140
HP:0002071HP:0007158Progressive extrapyramidal muscular rigidity2MAPT CL E G H41376893ORPHA:240103Progressive supranuclear palsy-corticobasal syndromeHP:0040282 - Frequent140
HP:0002071HP:0002548Parkinsonism with favorable response to dopaminergic medication2MAPT CL E G H41376893ORPHA:240103Progressive supranuclear palsy-corticobasal syndromeHP:0040283 - Occasional140
HP:0002071HP:0002548Parkinsonism with favorable response to dopaminergic medication2MAPT CL E G H41376893ORPHA:240085Progressive supranuclear palsy-parkinsonism syndromeHP:0040281 - Very frequent140
HP:0002071HP:0007158Progressive extrapyramidal muscular rigidity2MAPT CL E G H41376893ORPHA:240112Progressive supranuclear palsy-progressive non-fluent aphasia syndromeHP:0040283 - Occasional140
HP:0002071HP:0007158Progressive extrapyramidal muscular rigidity2MICU1 CL E G H103671530ORPHA:401768Proximal myopathy with extrapyramidal signsHP:0040282 - Frequent14
HP:0002071HP:0002548Parkinsonism with favorable response to dopaminergic medication2PARK7 CL E G H1131516369OMIM:606324PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET; PARK723
HP:0002071HP:0002548Parkinsonism with favorable response to dopaminergic medication2PDE10A CL E G H108468772ORPHA:494541Childhood-onset benign chorea with striatal involvementHP:0040283 - Occasional5
HP:0002071HP:0002548Parkinsonism with favorable response to dopaminergic medication2PLA2G6 CL E G H83989039ORPHA:199351Adult-onset dystonia-parkinsonismHP:0040282 - Frequent133
HP:0002071HP:0002548Parkinsonism with favorable response to dopaminergic medication2POLG CL E G H54289179ORPHA:254886Autosomal recessive progressive external ophthalmoplegiaHP:0040283 - Occasional464
HP:0002071HP:0002548Parkinsonism with favorable response to dopaminergic medication2POLG CL E G H54289179OMIM:157640Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1.464
HP:0002071HP:0007158Progressive extrapyramidal muscular rigidity2PRNP CL E G H56219449ORPHA:282166Inherited Creutzfeldt-Jakob diseaseHP:0040282 - Frequent69
HP:0002071HP:0002548Parkinsonism with favorable response to dopaminergic medication2PSAP CL E G H56609498OMIM:619491PARKINSON DISEASE 24, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO; PARK2481
HP:0002071HP:0002548Parkinsonism with favorable response to dopaminergic medication2RAB39B CL E G H11644216499OMIM:311510Waisman syndrome34
HP:0002071HP:0002548Parkinsonism with favorable response to dopaminergic medication2SNCA CL E G H662211138ORPHA:411602Hereditary late-onset Parkinson diseaseHP:0040282 - Frequent65
HP:0002071HP:0002548Parkinsonism with favorable response to dopaminergic medication2TAF1 CL E G H687211535OMIM:314250Dystonia 3, torsion, X-linked.21
HP:0002071HP:0002548Parkinsonism with favorable response to dopaminergic medication2TAF1 CL E G H687211535ORPHA:53351X-linked dystonia-parkinsonismHP:0040282 - Frequent21
HP:0002071HP:0007158Progressive extrapyramidal muscular rigidity2TAF1 CL E G H687211535ORPHA:53351X-linked dystonia-parkinsonismHP:0040282 - Frequent21
HP:0002071HP:0002548Parkinsonism with favorable response to dopaminergic medication2TH CL E G H705411782OMIM:605407Segawa syndrome, autosomal recessive.80
HP:0002071HP:0002548Parkinsonism with favorable response to dopaminergic medication2TK2 CL E G H708411831ORPHA:254886Autosomal recessive progressive external ophthalmoplegiaHP:0040283 - Occasional103
HP:0002071HP:0002548Parkinsonism with favorable response to dopaminergic medication2UCHL1 CL E G H734512513OMIM:613643PARKINSON DISEASE 5, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO; PARK521
HP:0002071HP:0002548Parkinsonism with favorable response to dopaminergic medication2UQCRC1 CL E G H738412585OMIM:619279PARKINSONISM WITH POLYNEUROPATHY; PKNPY
HP:0002071HP:0002548Parkinsonism with favorable response to dopaminergic medication2VPS35 CL E G H5573713487ORPHA:411602Hereditary late-onset Parkinson diseaseHP:0040282 - Frequent37


Genes (278) :ABCA7 ACAT1 ACD ACTA1 ADAR ADGRV1 ADH1C AFG3L2 ALG13 ALS2 AOPEP AP5Z1 APOE APP ARHGEF9 ASNS ATL1 ATN1 ATP13A2 ATP1A3 ATP5MK ATP6AP2 ATP7B ATXN1 ATXN10 ATXN2 ATXN3 ATXN7 ATXN8 ATXN8OS BAP1 BAZ1B BCL7B BOLA3 BUD23 C19ORF12 C9ORF72 CAMK2B CAT CDK4 CDKN2A CDKN2B CHCHD10 CHCHD2 CHMP2B CLIP2 CLN3 CLN6 CLPB CLTC COASY COQ2 CP CSF1R CTC1 CTSF CYP27A1 DCAF17 DCTN1 DDB2 DDC DHDDS DNAJC12 DNAJC13 DNAJC30 DNAJC5 DNAJC6 DPYS EARS2 EIF2AK1 EIF2AK2 EIF4G1 EIF4H ELN ERCC2 ERCC3 ERCC4 ERCC5 ETHE1 FA2H FARS2 FBXO7 FKBP6 FKTN FLRT1 FMR1 FTL FUS GABRA1 GABRD GABRG2 GAMT GBA1 GBE1 GCH1 GIGYF2 GLB1 GLRA1 GLRB GLUD2 GM2A GPHN GRN GTF2I GTF2IRD1 GTF2IRD2 HCN1 HEXB HFE HLA-DQB1 HPRT1 HTRA1 HTRA2 HTT IFIH1 IMPDH2 JAM2 JPH3 KBTBD13 KCNC3 KCNN2 KIF5A KLC2 KLHL41 L2HGDH LIMK1 LIPT1 LRRK2 LSM11 LYST MAPT MC1R MECP2 METTL27 MGMT MICU1 MINPP1 MITF MLXIPL MMACHC MPO MTHFS MYORG MYPN NAGA NCF1 NDUFA1 NDUFS7 NEB NFU1 NOS3 NOTCH3 NR4A2 OPA3 PANK2 PARK7 PCBD1 PCDH19 PDE10A PDE8B PDGFB PDGFRB PET117 PIDD1 PINK1 PLA2G6 PLAA PLAU PLP1 PODXL POLG POLG2 POT1 PPP2R2B PRDX1 PRDX3 PRKAR1B PRKN PRKRA PRNP PSAP PSEN1 PSEN2 PTS PURA RAB39B RARS1 RBM10 RFC2 RNASEH2A RNASEH2B RNASEH2C RNU7-1 RRM2B SAMHD1 SCN1A SCN1B SCN2A SCN9A SERAC1 SERPINI1 SIGMAR1 SLC16A2 SLC18A2 SLC20A2 SLC25A4 SLC2A1 SLC2A3 SLC30A10 SLC39A14 SLC6A3 SLC6A5 SLC6A9 SNCA SNCAIP SNCB SNORD118 SOD1 SORL1 SPG11 SPG21 SPR SPTLC1 SQSTM1 STUB1 STX1A STX1B SYNJ1 SYT1 TACO1 TAF1 TANGO2 TARDBP TBC1D24 TBK1 TBL2 TBP TERF2IP TERT TH TK2 TMEM106B TMEM240 TMEM270 TNIK TNR TOMM40 TPM2 TPM3 TRAK1 TREM2 TREX1 TRNT TRPM7 TSEN2 TSEN54 TSPOAP1 TSPYL1 TTC19 TWNK UBTF UCHL1 UQCRC1 UQCRQ VCP VPS13A VPS13C VPS35 VPS37D WARS2 WDR45 WDR73 XPA XPC XPR1 ZFYVE26 ZMYM2 ZNF592

Diseases (278) :OMIM:608907 ORPHA:1020 ORPHA:134 ORPHA:618 ORPHA:171439 ORPHA:51 ORPHA:36387 OMIM:168600 OMIM:610246 ORPHA:101109 OMIM:300884 ORPHA:300605 OMIM:619565 ORPHA:306511 OMIM:613647 OMIM:104310 OMIM:607822 OMIM:104300 OMIM:300607 ORPHA:163985 OMIM:615574 ORPHA:100984 OMIM:125370 ORPHA:314632 ORPHA:513436 OMIM:606693 ORPHA:306674 OMIM:617225 OMIM:601338 OMIM:128235 ORPHA:71517 OMIM:618683 OMIM:300423 OMIM:300911 ORPHA:93952 ORPHA:363654 OMIM:277900 OMIM:164400 ORPHA:98755 OMIM:603516 OMIM:183090 ORPHA:98756 OMIM:109150 ORPHA:276238 ORPHA:276241 ORPHA:276244 OMIM:164500 ORPHA:98760 ORPHA:904 OMIM:614299 ORPHA:289560 OMIM:614298 OMIM:105550 ORPHA:275864 ORPHA:275872 ORPHA:401901 ORPHA:100070 OMIM:617799 ORPHA:926 OMIM:615911 OMIM:616710 OMIM:204200 ORPHA:228346 OMIM:204300 ORPHA:445038 OMIM:617854 ORPHA:397725 OMIM:615643 OMIM:146500 ORPHA:227510 ORPHA:98933 ORPHA:48818 OMIM:604290 OMIM:221820 OMIM:612199 OMIM:615362 ORPHA:909 OMIM:241080 ORPHA:178509 OMIM:168605 ORPHA:910 OMIM:608643 OMIM:617836 OMIM:617384 ORPHA:411602 OMIM:162350 ORPHA:391411 OMIM:615528 ORPHA:2828 OMIM:222748 OMIM:614924 OMIM:618878 OMIM:618877 OMIM:614251 OMIM:602473 ORPHA:51188 ORPHA:329308 ORPHA:466722 OMIM:260300 ORPHA:171695 OMIM:253800 ORPHA:320406 OMIM:300623 ORPHA:93256 OMIM:606159 ORPHA:157846 ORPHA:33069 OMIM:612736 ORPHA:382 OMIM:127750 ORPHA:206583 ORPHA:98808 OMIM:128230 OMIM:607688 ORPHA:79255 OMIM:149400 OMIM:614619 ORPHA:309246 OMIM:272750 OMIM:607485 OMIM:268800 ORPHA:309155 ORPHA:309162 OMIM:123400 ORPHA:79233 OMIM:300322 OMIM:600142 OMIM:610297 OMIM:143100 ORPHA:399 ORPHA:248111 OMIM:617435 OMIM:618824 ORPHA:98934 OMIM:606438 ORPHA:98768 OMIM:619725 ORPHA:100991 OMIM:604187 OMIM:609541 ORPHA:79314 OMIM:236792 OMIM:616299 OMIM:607060 ORPHA:352723 ORPHA:167 ORPHA:240071 OMIM:600274 ORPHA:240103 ORPHA:240085 ORPHA:240112 OMIM:260540 OMIM:601104 OMIM:300055 ORPHA:778 ORPHA:3077 OMIM:615673 ORPHA:401768 OMIM:619527 OMIM:277400 OMIM:618367 OMIM:618317 ORPHA:79279 OMIM:301020 OMIM:618224 OMIM:605711 ORPHA:136 OMIM:619911 OMIM:258501 ORPHA:67036 OMIM:165300 ORPHA:216873 OMIM:234200 OMIM:606324 ORPHA:1578 ORPHA:494541 OMIM:616922 ORPHA:228169 OMIM:609161 OMIM:213600 OMIM:615483 OMIM:615007 OMIM:619063 OMIM:619827 OMIM:605909 ORPHA:199351 OMIM:610217 OMIM:612953 OMIM:617527 ORPHA:521426 ORPHA:280219 ORPHA:99015 ORPHA:254892 ORPHA:254886 OMIM:157640 OMIM:258450 OMIM:604326 ORPHA:98762 OMIM:619862 ORPHA:412066 OMIM:600116 OMIM:612067 ORPHA:210571 OMIM:137440 ORPHA:356 ORPHA:157941 ORPHA:282166 OMIM:619491 ORPHA:13 OMIM:261640 ORPHA:438216 OMIM:311510 OMIM:616140 ORPHA:438114 ORPHA:2886 OMIM:614739 OMIM:604218 ORPHA:59 ORPHA:352649 OMIM:618049 ORPHA:71277 ORPHA:309854 OMIM:613280 ORPHA:521406 OMIM:617013 ORPHA:238455 OMIM:613135 OMIM:614618 OMIM:617301 OMIM:168601 OMIM:605543 OMIM:614561 OMIM:618598 ORPHA:2822 ORPHA:101001 ORPHA:70594 OMIM:618093 OMIM:615530 ORPHA:522077 OMIM:619052 OMIM:314250 ORPHA:53351 ORPHA:480864 OMIM:615338 ORPHA:352596 OMIM:607136 ORPHA:98759 ORPHA:101150 OMIM:605407 OMIM:607454 ORPHA:98773 OMIM:617028 OMIM:619653 OMIM:618201 OMIM:225750 OMIM:105500 OMIM:612389 OMIM:277470 OMIM:608800 OMIM:615157 OMIM:609286 ORPHA:500180 OMIM:617672 OMIM:613643 OMIM:619279 OMIM:615159 ORPHA:329478 ORPHA:2388 OMIM:200150 OMIM:616840 OMIM:614203 OMIM:619738 ORPHA:329284 OMIM:300894 ORPHA:83472 OMIM:616413 ORPHA:100996 OMIM:619522
 

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