Human Phenotype Ontology 
Grandparent Node:
expandAbnormal nervous system physiology (HP:0012638)help
Parent Node:
expandAbnormal central motor function (HP:0011442)help
..Starting node
..expandAbnormality 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 entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0ALG13 CL E G H79868300884Epileptic encephalopathy, early infantile, 36300884C3550904OMIM195030881300776
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0ATXN1 CL E G H6310164400Spinocerebellar ataxia 1164400C0752120OMIM112010548601556
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0ATXN10 CL E G H25814603516Spinocerebellar ataxia 10603516C1963674OMIM111610549611150
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0ATXN3 CL E G H4287276241ORPHA1657106607047
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0ATXN3 CL E G H4287276238ORPHA1657106607047
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0ATXN3 CL E G H4287276244ORPHA1657106607047
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0ATXN7 CL E G H6314164500Spinocerebellar ataxia 7164500C0752125OMIM19810560607640
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0BAZ1B CL E G H9031904Blepharophimosis nasal groove growth retardationORPHA1249961605681
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0BOLA3 CL E G H388962614299Multiple mitochondrial dysfunctions syndrome 2614299C3280378OMIM110224415613183
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0CLIP2 CL E G H7461904Blepharophimosis nasal groove growth retardationORPHA12292586603432
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0CLN6 CL E G H54982204300Adult neuronal ceroid lipofuscinosis204300C0022797OMIM16612077606725
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0CLPB CL E G H815706162713-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia616271C4225393OMIM158530664616254
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0CTC1 CL E G H80169612199Cerebroretinal microangiopathy with calcifications and cysts 1612199C2677299OMIM1129226169613129
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0CTSF CL E G H8722615362Ceroid lipofuscinosis, neuronal, 13615362C3715049OMIM12182531603539
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0CYP27A1 CL E G H1593909ORPHA19402605606530
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0DCAF17 CL E G H80067241080Hypogonadism, diabetes mellitus, alopecia, mental retardation and electrocardiographic abnormalities241080C0342286OMIM136625784612515
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0ELN CL E G H2006904Blepharophimosis nasal groove growth retardationORPHA19663327130160
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0ETHE1 CL E G H2347451188ORPHA133823287608451
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0ETHE1 CL E G H23474602473Ethylmalonic encephalopathy602473C1865349OMIM133823287608451
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0FBXO7 CL E G H25793260300Parkinson disease 15260300C1850100OMIM124313586605648
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0GCDH CL E G H263925ORPHA17204189608801
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0GTF2I CL E G H2969904Blepharophimosis nasal groove growth retardationORPHA11784659601679
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0GTF2IRD1 CL E G H9569904Blepharophimosis nasal groove growth retardationORPHA12664661604318
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0HPRT1 CL E G H3251300322Lesch-Nyhan syndrome300322C0023374OMIM13545157308000
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0HTRA1 CL E G H5654600142Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy600142C1838577OMIM12859476602194
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0L2HGDH CL E G H7994479314ORPHA125320499609584
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0L2HGDH CL E G H79944236792L-2-hydroxyglutaric aciduria236792C1855995OMIM125320499609584
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0LIMK1 CL E G H3984904Blepharophimosis nasal groove growth retardationORPHA12326613601329
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0LIPT1 CL E G H51601616299Lipoyltransferase 1 deficiency616299C4225379OMIM112429569610284
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0MMACHC CL E G H25974277400Methylmalonic acidemia with homocystinuria277400C1848561OMIM152424525609831
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0NAGA CL E G H466879279ORPHA12307631104170
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0NDUFA1 CL E G H4694301020MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 12301020OMIM12097683300078
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0NDUFAF5 CL E G H79133618238MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 16618238OMIM138315899612360
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0NDUFS7 CL E G H374291618224MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 3618224OMIM12157714601825
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0OPA3 CL E G H802072585013-Methylglutaconic aciduria type 3258501C0574084OMIM15238142606580
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0OPA3 CL E G H80207165300Optic atrophy and cataract, autosomal dominant165300C1833809OMIM15238142606580
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0PLP1 CL E G H535499015ORPHA14519086300401
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0PRDX1 CL E G H5052277400Methylmalonic acidemia with homocystinuria277400C1848561OMIM1649352176763
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0PSEN1 CL E G H5663607822Alzheimer disease, type 3607822C1843013OMIM15019508104311
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0RARS CL E G H5917616140Leukodystrophy, hypomyelinating, 9616140C4015323OMIM19870107820
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0RFC2 CL E G H5982904Blepharophimosis nasal groove growth retardationORPHA12009970600404
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0SERAC1 CL E G H849476147393-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome614739C3553597OMIM140021061614725
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0SERPINI1 CL E G H5274604218Encephalopathy, familial, with neuroserpin inclusion bodies604218C1858680OMIM13108943602445
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0SNORD118 CL E G H727676614561Leukoencephalopathy, brain calcifications, and cysts614561C3281200OMIM118932952616663
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0TBC1D24 CL E G H57465615338Early infantile epileptic encephalopathy 16615338C3809173OMIM189329203613577
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0TBL2 CL E G H26608904Blepharophimosis nasal groove growth retardationORPHA119411586605842
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0TMEM240 CL E G H33945398773ORPHA123725186616101
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0TMEM240 CL E G H339453607454Spinocerebellar ataxia 21607454C1843891OMIM123725186616101
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0TREX1 CL E G H11277225750Aicardi Goutieres syndrome 1225750C0796126OMIM141812269606609
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0UQCRQ CL E G H27089615159Mitochondrial complex III deficiency, nuclear type 4615159C3554607OMIM110229594612080
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0ZFYVE26 CL E G H23503100996ORPHA1240820761612012
HP:0002071HP:0002267Exaggerated startle response1ALG13 CL E G H79868300884Epileptic encephalopathy, early infantile, 36300884C3550904OMIM195030881300776
HP:0002071HP:0007153Progressive extrapyramidal movement disorder1ALG13 CL E G H79868300884Epileptic encephalopathy, early infantile, 36300884C3550904OMIM195030881300776
HP:0002071HP:0007076Extrapyramidal muscular rigidity1ALG13 CL E G H79868300884Epileptic encephalopathy, early infantile, 36300884C3550904OMIM195030881300776
HP:0002071HP:0002067Bradykinesia1ALG13 CL E G H79868300884Epileptic encephalopathy, early infantile, 36300884C3550904OMIM195030881300776
HP:0002071HP:0011445Athetoid cerebral palsy1ALG13 CL E G H79868300884Epileptic encephalopathy, early infantile, 36300884C3550904OMIM195030881300776
HP:0002071HP:0001300Parkinsonism1ALG13 CL E G H79868300884Epileptic encephalopathy, early infantile, 36300884C3550904OMIM195030881300776
HP:0002071HP:0007308Extrapyramidal dyskinesia1ALG13 CL E G H79868300884Epileptic encephalopathy, early infantile, 36300884C3550904OMIM195030881300776
HP:0002071HP:0007076Extrapyramidal muscular rigidity1ATXN1 CL E G H6310164400Spinocerebellar ataxia 1164400C0752120OMIM112010548601556
HP:0002071HP:0002267Exaggerated startle response1ATXN1 CL E G H6310164400Spinocerebellar ataxia 1164400C0752120OMIM112010548601556
HP:0002071HP:0007153Progressive extrapyramidal movement disorder1ATXN1 CL E G H6310164400Spinocerebellar ataxia 1164400C0752120OMIM112010548601556
HP:0002071HP:0002067Bradykinesia1ATXN1 CL E G H6310164400Spinocerebellar ataxia 1164400C0752120OMIM112010548601556
HP:0002071HP:0011445Athetoid cerebral palsy1ATXN1 CL E G H6310164400Spinocerebellar ataxia 1164400C0752120OMIM112010548601556
HP:0002071HP:0001300Parkinsonism1ATXN1 CL E G H6310164400Spinocerebellar ataxia 1164400C0752120OMIM112010548601556
HP:0002071HP:0007308Extrapyramidal dyskinesia1ATXN1 CL E G H6310164400Spinocerebellar ataxia 1164400C0752120OMIM112010548601556
HP:0002071HP:0007076Extrapyramidal muscular rigidity1ATXN10 CL E G H25814603516Spinocerebellar ataxia 10603516C1963674OMIM111610549611150
HP:0002071HP:0002267Exaggerated startle response1ATXN10 CL E G H25814603516Spinocerebellar ataxia 10603516C1963674OMIM111610549611150
HP:0002071HP:0007153Progressive extrapyramidal movement disorder1ATXN10 CL E G H25814603516Spinocerebellar ataxia 10603516C1963674OMIM111610549611150
HP:0002071HP:0002067Bradykinesia1ATXN10 CL E G H25814603516Spinocerebellar ataxia 10603516C1963674OMIM111610549611150
HP:0002071HP:0011445Athetoid cerebral palsy1ATXN10 CL E G H25814603516Spinocerebellar ataxia 10603516C1963674OMIM111610549611150
HP:0002071HP:0001300Parkinsonism1ATXN10 CL E G H25814603516Spinocerebellar ataxia 10603516C1963674OMIM111610549611150
HP:0002071HP:0007308Extrapyramidal dyskinesia1ATXN10 CL E G H25814603516Spinocerebellar ataxia 10603516C1963674OMIM111610549611150
HP:0002071HP:0007153Progressive extrapyramidal movement disorder1ATXN3 CL E G H4287276244ORPHA1657106607047
HP:0002071HP:0011445Athetoid cerebral palsy1ATXN3 CL E G H4287276241ORPHA1657106607047
HP:0002071HP:0001300Parkinsonism1ATXN3 CL E G H4287276241ORPHA1657106607047
HP:0002071HP:0007076Extrapyramidal muscular rigidity1ATXN3 CL E G H4287276238ORPHA1657106607047
HP:0002071HP:0007076Extrapyramidal muscular rigidity1ATXN3 CL E G H4287276244ORPHA1657106607047
HP:0002071HP:0002267Exaggerated startle response1ATXN3 CL E G H4287276238ORPHA1657106607047
HP:0002071HP:0002267Exaggerated startle response1ATXN3 CL E G H4287276244ORPHA1657106607047
HP:0002071HP:0007153Progressive extrapyramidal movement disorder1ATXN3 CL E G H4287276238ORPHA1657106607047
HP:0002071HP:0007308Extrapyramidal dyskinesia1ATXN3 CL E G H4287276241ORPHA1657106607047
HP:0002071HP:0002067Bradykinesia1ATXN3 CL E G H4287276238ORPHA1657106607047
HP:0002071HP:0002067Bradykinesia1ATXN3 CL E G H4287276244ORPHA1657106607047
HP:0002071HP:0007076Extrapyramidal muscular rigidity1ATXN3 CL E G H4287276241ORPHA1657106607047
HP:0002071HP:0002267Exaggerated startle response1ATXN3 CL E G H4287276241ORPHA1657106607047
HP:0002071HP:0007153Progressive extrapyramidal movement disorder1ATXN3 CL E G H4287276241ORPHA1657106607047
HP:0002071HP:0011445Athetoid cerebral palsy1ATXN3 CL E G H4287276238ORPHA1657106607047
HP:0002071HP:0011445Athetoid cerebral palsy1ATXN3 CL E G H4287276244ORPHA1657106607047
HP:0002071HP:0001300Parkinsonism1ATXN3 CL E G H4287276238ORPHA1657106607047
HP:0002071HP:0001300Parkinsonism1ATXN3 CL E G H4287276244ORPHA1657106607047
HP:0002071HP:0002067Bradykinesia1ATXN3 CL E G H4287276241ORPHA1657106607047
HP:0002071HP:0007308Extrapyramidal dyskinesia1ATXN3 CL E G H4287276238ORPHA1657106607047
HP:0002071HP:0007308Extrapyramidal dyskinesia1ATXN3 CL E G H4287276244ORPHA1657106607047
HP:0002071HP:0011445Athetoid cerebral palsy1ATXN7 CL E G H6314164500Spinocerebellar ataxia 7164500C0752125OMIM19810560607640
HP:0002071HP:0001300Parkinsonism1ATXN7 CL E G H6314164500Spinocerebellar ataxia 7164500C0752125OMIM19810560607640
HP:0002071HP:0007308Extrapyramidal dyskinesia1ATXN7 CL E G H6314164500Spinocerebellar ataxia 7164500C0752125OMIM19810560607640
HP:0002071HP:0007076Extrapyramidal muscular rigidity1ATXN7 CL E G H6314164500Spinocerebellar ataxia 7164500C0752125OMIM19810560607640
HP:0002071HP:0002267Exaggerated startle response1ATXN7 CL E G H6314164500Spinocerebellar ataxia 7164500C0752125OMIM19810560607640
HP:0002071HP:0007153Progressive extrapyramidal movement disorder1ATXN7 CL E G H6314164500Spinocerebellar ataxia 7164500C0752125OMIM19810560607640
HP:0002071HP:0002067Bradykinesia1ATXN7 CL E G H6314164500Spinocerebellar ataxia 7164500C0752125OMIM19810560607640
HP:0002071HP:0011445Athetoid cerebral palsy1BAZ1B CL E G H9031904Blepharophimosis nasal groove growth retardationORPHA1249961605681
HP:0002071HP:0001300Parkinsonism1BAZ1B CL E G H9031904Blepharophimosis nasal groove growth retardationORPHA1249961605681
HP:0002071HP:0007308Extrapyramidal dyskinesia1BAZ1B CL E G H9031904Blepharophimosis nasal groove growth retardationORPHA1249961605681
HP:0002071HP:0007076Extrapyramidal muscular rigidity1BAZ1B CL E G H9031904Blepharophimosis nasal groove growth retardationORPHA1249961605681
HP:0002071HP:0002267Exaggerated startle response1BAZ1B CL E G H9031904Blepharophimosis nasal groove growth retardationORPHA1249961605681
HP:0002071HP:0007153Progressive extrapyramidal movement disorder1BAZ1B CL E G H9031904Blepharophimosis nasal groove growth retardationORPHA1249961605681
HP:0002071HP:0002067Bradykinesia1BAZ1B CL E G H9031904Blepharophimosis nasal groove growth retardationORPHA1249961605681
HP:0002071HP:0001300Parkinsonism1BOLA3 CL E G H388962614299Multiple mitochondrial dysfunctions syndrome 2614299C3280378OMIM110224415613183
HP:0002071HP:0011445Athetoid cerebral palsy1BOLA3 CL E G H388962614299Multiple mitochondrial dysfunctions syndrome 2614299C3280378OMIM110224415613183
HP:0002071HP:0007308Extrapyramidal dyskinesia1BOLA3 CL E G H388962614299Multiple mitochondrial dysfunctions syndrome 2614299C3280378OMIM110224415613183
HP:0002071HP:0002267Exaggerated startle response1BOLA3 CL E G H388962614299Multiple mitochondrial dysfunctions syndrome 2614299C3280378OMIM110224415613183
HP:0002071HP:0007153Progressive extrapyramidal movement disorder1BOLA3 CL E G H388962614299Multiple mitochondrial dysfunctions syndrome 2614299C3280378OMIM110224415613183
HP:0002071HP:0007076Extrapyramidal muscular rigidity1BOLA3 CL E G H388962614299Multiple mitochondrial dysfunctions syndrome 2614299C3280378OMIM110224415613183
HP:0002071HP:0002067Bradykinesia1BOLA3 CL E G H388962614299Multiple mitochondrial dysfunctions syndrome 2614299C3280378OMIM110224415613183
HP:0002071HP:0007076Extrapyramidal muscular rigidity1CLIP2 CL E G H7461904Blepharophimosis nasal groove growth retardationORPHA12292586603432
HP:0002071HP:0002267Exaggerated startle response1CLIP2 CL E G H7461904Blepharophimosis nasal groove growth retardationORPHA12292586603432
HP:0002071HP:0007153Progressive extrapyramidal movement disorder1CLIP2 CL E G H7461904Blepharophimosis nasal groove growth retardationORPHA12292586603432
HP:0002071HP:0002067Bradykinesia1CLIP2 CL E G H7461904Blepharophimosis nasal groove growth retardationORPHA12292586603432
HP:0002071HP:0011445Athetoid cerebral palsy1CLIP2 CL E G H7461904Blepharophimosis nasal groove growth retardationORPHA12292586603432
HP:0002071HP:0001300Parkinsonism1CLIP2 CL E G H7461904Blepharophimosis nasal groove growth retardationORPHA12292586603432
HP:0002071HP:0007308Extrapyramidal dyskinesia1CLIP2 CL E G H7461904Blepharophimosis nasal groove growth retardationORPHA12292586603432
HP:0002071HP:0011445Athetoid cerebral palsy1CLN6 CL E G H54982204300Adult neuronal ceroid lipofuscinosis204300C0022797OMIM16612077606725
HP:0002071HP:0001300Parkinsonism1CLN6 CL E G H54982204300Adult neuronal ceroid lipofuscinosis204300C0022797OMIM16612077606725
HP:0002071HP:0007308Extrapyramidal dyskinesia1CLN6 CL E G H54982204300Adult neuronal ceroid lipofuscinosis204300C0022797OMIM16612077606725
HP:0002071HP:0007076Extrapyramidal muscular rigidity1CLN6 CL E G H54982204300Adult neuronal ceroid lipofuscinosis204300C0022797OMIM16612077606725
HP:0002071HP:0002267Exaggerated startle response1CLN6 CL E G H54982204300Adult neuronal ceroid lipofuscinosis204300C0022797OMIM16612077606725
HP:0002071HP:0007153Progressive extrapyramidal movement disorder1CLN6 CL E G H54982204300Adult neuronal ceroid lipofuscinosis204300C0022797OMIM16612077606725
HP:0002071HP:0002067Bradykinesia1CLN6 CL E G H54982204300Adult neuronal ceroid lipofuscinosis204300C0022797OMIM16612077606725
HP:0002071HP:0011445Athetoid cerebral palsy1CLPB CL E G H815706162713-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia616271C4225393OMIM158530664616254
HP:0002071HP:0001300Parkinsonism1CLPB CL E G H815706162713-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia616271C4225393OMIM158530664616254
HP:0002071HP:0007308Extrapyramidal dyskinesia1CLPB CL E G H815706162713-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia616271C4225393OMIM158530664616254
HP:0002071HP:0007076Extrapyramidal muscular rigidity1CLPB CL E G H815706162713-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia616271C4225393OMIM158530664616254
HP:0002071HP:0002267Exaggerated startle response1CLPB CL E G H815706162713-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia616271C4225393OMIM158530664616254
HP:0002071HP:0007153Progressive extrapyramidal movement disorder1CLPB CL E G H815706162713-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia616271C4225393OMIM158530664616254
HP:0002071HP:0002067Bradykinesia1CLPB CL E G H815706162713-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia616271C4225393OMIM158530664616254
HP:0002071HP:0007076Extrapyramidal muscular rigidity1CTC1 CL E G H80169612199Cerebroretinal microangiopathy with calcifications and cysts 1612199C2677299OMIM1129226169613129
HP:0002071HP:0002267Exaggerated startle response1CTC1 CL E G H80169612199Cerebroretinal microangiopathy with calcifications and cysts 1612199C2677299OMIM1129226169613129
HP:0002071HP:0007153Progressive extrapyramidal movement disorder1CTC1 CL E G H80169612199Cerebroretinal microangiopathy with calcifications and cysts 1612199C2677299OMIM1129226169613129
HP:0002071HP:0002067Bradykinesia1CTC1 CL E G H80169612199Cerebroretinal microangiopathy with calcifications and cysts 1612199C2677299OMIM1129226169613129
HP:0002071HP:0011445Athetoid cerebral palsy1CTC1 CL E G H80169612199Cerebroretinal microangiopathy with calcifications and cysts 1612199C2677299OMIM1129226169613129
HP:0002071HP:0001300Parkinsonism1CTC1 CL E G H80169612199Cerebroretinal microangiopathy with calcifications and cysts 1612199C2677299OMIM1129226169613129
HP:0002071HP:0007308Extrapyramidal dyskinesia1CTC1 CL E G H80169612199Cerebroretinal microangiopathy with calcifications and cysts 1612199C2677299OMIM1129226169613129
HP:0002071HP:0007076Extrapyramidal muscular rigidity1CTSF CL E G H8722615362Ceroid lipofuscinosis, neuronal, 13615362C3715049OMIM12182531603539
HP:0002071HP:0002267Exaggerated startle response1CTSF CL E G H8722615362Ceroid lipofuscinosis, neuronal, 13615362C3715049OMIM12182531603539
HP:0002071HP:0007153Progressive extrapyramidal movement disorder1CTSF CL E G H8722615362Ceroid lipofuscinosis, neuronal, 13615362C3715049OMIM12182531603539
HP:0002071HP:0002067Bradykinesia1CTSF CL E G H8722615362Ceroid lipofuscinosis, neuronal, 13615362C3715049OMIM12182531603539
HP:0002071HP:0011445Athetoid cerebral palsy1CTSF CL E G H8722615362Ceroid lipofuscinosis, neuronal, 13615362C3715049OMIM12182531603539
HP:0002071HP:0001300Parkinsonism1CTSF CL E G H8722615362Ceroid lipofuscinosis, neuronal, 13615362C3715049OMIM12182531603539
HP:0002071HP:0007308Extrapyramidal dyskinesia1CTSF CL E G H8722615362Ceroid lipofuscinosis, neuronal, 13615362C3715049OMIM12182531603539
HP:0002071HP:0011445Athetoid cerebral palsy1CYP27A1 CL E G H1593909ORPHA19402605606530
HP:0002071HP:0001300Parkinsonism1CYP27A1 CL E G H1593909ORPHA19402605606530
HP:0002071HP:0007308Extrapyramidal dyskinesia1CYP27A1 CL E G H1593909ORPHA19402605606530
HP:0002071HP:0007076Extrapyramidal muscular rigidity1CYP27A1 CL E G H1593909ORPHA19402605606530
HP:0002071HP:0002267Exaggerated startle response1CYP27A1 CL E G H1593909ORPHA19402605606530
HP:0002071HP:0007153Progressive extrapyramidal movement disorder1CYP27A1 CL E G H1593909ORPHA19402605606530
HP:0002071HP:0002067Bradykinesia1CYP27A1 CL E G H1593909ORPHA19402605606530
HP:0002071HP:0007153Progressive extrapyramidal movement disorder1DCAF17 CL E G H80067241080Hypogonadism, diabetes mellitus, alopecia, mental retardation and electrocardiographic abnormalities241080C0342286OMIM136625784612515
HP:0002071HP:0007076Extrapyramidal muscular rigidity1DCAF17 CL E G H80067241080Hypogonadism, diabetes mellitus, alopecia, mental retardation and electrocardiographic abnormalities241080C0342286OMIM136625784612515
HP:0002071HP:0002267Exaggerated startle response1DCAF17 CL E G H80067241080Hypogonadism, diabetes mellitus, alopecia, mental retardation and electrocardiographic abnormalities241080C0342286OMIM136625784612515
HP:0002071HP:0002067Bradykinesia1DCAF17 CL E G H80067241080Hypogonadism, diabetes mellitus, alopecia, mental retardation and electrocardiographic abnormalities241080C0342286OMIM136625784612515
HP:0002071HP:0001300Parkinsonism1DCAF17 CL E G H80067241080Hypogonadism, diabetes mellitus, alopecia, mental retardation and electrocardiographic abnormalities241080C0342286OMIM136625784612515
HP:0002071HP:0011445Athetoid cerebral palsy1DCAF17 CL E G H80067241080Hypogonadism, diabetes mellitus, alopecia, mental retardation and electrocardiographic abnormalities241080C0342286OMIM136625784612515
HP:0002071HP:0007308Extrapyramidal dyskinesia1DCAF17 CL E G H80067241080Hypogonadism, diabetes mellitus, alopecia, mental retardation and electrocardiographic abnormalities241080C0342286OMIM136625784612515
HP:0002071HP:0001300Parkinsonism1ELN CL E G H2006904Blepharophimosis nasal groove growth retardationORPHA19663327130160
HP:0002071HP:0011445Athetoid cerebral palsy1ELN CL E G H2006904Blepharophimosis nasal groove growth retardationORPHA19663327130160
HP:0002071HP:0007308Extrapyramidal dyskinesia1ELN CL E G H2006904Blepharophimosis nasal groove growth retardationORPHA19663327130160
HP:0002071HP:0002267Exaggerated startle response1ELN CL E G H2006904Blepharophimosis nasal groove growth retardationORPHA19663327130160
HP:0002071HP:0007153Progressive extrapyramidal movement disorder1ELN CL E G H2006904Blepharophimosis nasal groove growth retardationORPHA19663327130160
HP:0002071HP:0007076Extrapyramidal muscular rigidity1ELN CL E G H2006904Blepharophimosis nasal groove growth retardationORPHA19663327130160
HP:0002071HP:0002067Bradykinesia1ELN CL E G H2006904Blepharophimosis nasal groove growth retardationORPHA19663327130160
HP:0002071HP:0011445Athetoid cerebral palsy1ETHE1 CL E G H2347451188ORPHA133823287608451
HP:0002071HP:0001300Parkinsonism1ETHE1 CL E G H2347451188ORPHA133823287608451
HP:0002071HP:0007308Extrapyramidal dyskinesia1ETHE1 CL E G H2347451188ORPHA133823287608451
HP:0002071HP:0007076Extrapyramidal muscular rigidity1ETHE1 CL E G H2347451188ORPHA133823287608451
HP:0002071HP:0002267Exaggerated startle response1ETHE1 CL E G H2347451188ORPHA133823287608451
HP:0002071HP:0007153Progressive extrapyramidal movement disorder1ETHE1 CL E G H2347451188ORPHA133823287608451
HP:0002071HP:0002067Bradykinesia1ETHE1 CL E G H2347451188ORPHA133823287608451
HP:0002071HP:0011445Athetoid cerebral palsy1ETHE1 CL E G H23474602473Ethylmalonic encephalopathy602473C1865349OMIM133823287608451
HP:0002071HP:0001300Parkinsonism1ETHE1 CL E G H23474602473Ethylmalonic encephalopathy602473C1865349OMIM133823287608451
HP:0002071HP:0007308Extrapyramidal dyskinesia1ETHE1 CL E G H23474602473Ethylmalonic encephalopathy602473C1865349OMIM133823287608451
HP:0002071HP:0007153Progressive extrapyramidal movement disorder1ETHE1 CL E G H23474602473Ethylmalonic encephalopathy602473C1865349OMIM133823287608451
HP:0002071HP:0007076Extrapyramidal muscular rigidity1ETHE1 CL E G H23474602473Ethylmalonic encephalopathy602473C1865349OMIM133823287608451
HP:0002071HP:0002267Exaggerated startle response1ETHE1 CL E G H23474602473Ethylmalonic encephalopathy602473C1865349OMIM133823287608451
HP:0002071HP:0002067Bradykinesia1ETHE1 CL E G H23474602473Ethylmalonic encephalopathy602473C1865349OMIM133823287608451
HP:0002071HP:0002267Exaggerated startle response1FBXO7 CL E G H25793260300Parkinson disease 15260300C1850100OMIM124313586605648
HP:0002071HP:0007153Progressive extrapyramidal movement disorder1FBXO7 CL E G H25793260300Parkinson disease 15260300C1850100OMIM124313586605648
HP:0002071HP:0007076Extrapyramidal muscular rigidity1FBXO7 CL E G H25793260300Parkinson disease 15260300C1850100OMIM124313586605648
HP:0002071HP:0002067Bradykinesia1FBXO7 CL E G H25793260300Parkinson disease 15260300C1850100OMIM124313586605648
HP:0002071HP:0001300Parkinsonism1FBXO7 CL E G H25793260300Parkinson disease 15260300C1850100OMIM124313586605648
HP:0002071HP:0011445Athetoid cerebral palsy1FBXO7 CL E G H25793260300Parkinson disease 15260300C1850100OMIM124313586605648
HP:0002071HP:0007308Extrapyramidal dyskinesia1FBXO7 CL E G H25793260300Parkinson disease 15260300C1850100OMIM124313586605648
HP:0002071HP:0011445Athetoid cerebral palsy1GCDH CL E G H263925ORPHA17204189608801
HP:0002071HP:0001300Parkinsonism1GCDH CL E G H263925ORPHA17204189608801
HP:0002071HP:0007308Extrapyramidal dyskinesia1GCDH CL E G H263925ORPHA17204189608801
HP:0002071HP:0007076Extrapyramidal muscular rigidity1GCDH CL E G H263925ORPHA17204189608801
HP:0002071HP:0002267Exaggerated startle response1GCDH CL E G H263925ORPHA17204189608801
HP:0002071HP:0007153Progressive extrapyramidal movement disorder1GCDH CL E G H263925ORPHA17204189608801
HP:0002071HP:0002067Bradykinesia1GCDH CL E G H263925ORPHA17204189608801
HP:0002071HP:0007076Extrapyramidal muscular rigidity1GTF2I CL E G H2969904Blepharophimosis nasal groove growth retardationORPHA11784659601679
HP:0002071HP:0002267Exaggerated startle response1GTF2I CL E G H2969904Blepharophimosis nasal groove growth retardationORPHA11784659601679
HP:0002071HP:0007153Progressive extrapyramidal movement disorder1GTF2I CL E G H2969904Blepharophimosis nasal groove growth retardationORPHA11784659601679
HP:0002071HP:0002067Bradykinesia1GTF2I CL E G H2969904Blepharophimosis nasal groove growth retardationORPHA11784659601679
HP:0002071HP:0011445Athetoid cerebral palsy1GTF2I CL E G H2969904Blepharophimosis nasal groove growth retardationORPHA11784659601679
HP:0002071HP:0001300Parkinsonism1GTF2I CL E G H2969904Blepharophimosis nasal groove growth retardationORPHA11784659601679
HP:0002071HP:0007308Extrapyramidal dyskinesia1GTF2I CL E G H2969904Blepharophimosis nasal groove growth retardationORPHA11784659601679
HP:0002071HP:0011445Athetoid cerebral palsy1GTF2IRD1 CL E G H9569904Blepharophimosis nasal groove growth retardationORPHA12664661604318
HP:0002071HP:0001300Parkinsonism1GTF2IRD1 CL E G H9569904Blepharophimosis nasal groove growth retardationORPHA12664661604318
HP:0002071HP:0007308Extrapyramidal dyskinesia1GTF2IRD1 CL E G H9569904Blepharophimosis nasal groove growth retardationORPHA12664661604318
HP:0002071HP:0002267Exaggerated startle response1GTF2IRD1 CL E G H9569904Blepharophimosis nasal groove growth retardationORPHA12664661604318
HP:0002071HP:0007153Progressive extrapyramidal movement disorder1GTF2IRD1 CL E G H9569904Blepharophimosis nasal groove growth retardationORPHA12664661604318
HP:0002071HP:0007076Extrapyramidal muscular rigidity1GTF2IRD1 CL E G H9569904Blepharophimosis nasal groove growth retardationORPHA12664661604318
HP:0002071HP:0002067Bradykinesia1GTF2IRD1 CL E G H9569904Blepharophimosis nasal groove growth retardationORPHA12664661604318
HP:0002071HP:0011445Athetoid cerebral palsy1HPRT1 CL E G H3251300322Lesch-Nyhan syndrome300322C0023374OMIM13545157308000
HP:0002071HP:0001300Parkinsonism1HPRT1 CL E G H3251300322Lesch-Nyhan syndrome300322C0023374OMIM13545157308000
HP:0002071HP:0007308Extrapyramidal dyskinesia1HPRT1 CL E G H3251300322Lesch-Nyhan syndrome300322C0023374OMIM13545157308000
HP:0002071HP:0007076Extrapyramidal muscular rigidity1HPRT1 CL E G H3251300322Lesch-Nyhan syndrome300322C0023374OMIM13545157308000
HP:0002071HP:0002267Exaggerated startle response1HPRT1 CL E G H3251300322Lesch-Nyhan syndrome300322C0023374OMIM13545157308000
HP:0002071HP:0007153Progressive extrapyramidal movement disorder1HPRT1 CL E G H3251300322Lesch-Nyhan syndrome300322C0023374OMIM13545157308000
HP:0002071HP:0002067Bradykinesia1HPRT1 CL E G H3251300322Lesch-Nyhan syndrome300322C0023374OMIM13545157308000
HP:0002071HP:0007076Extrapyramidal muscular rigidity1HTRA1 CL E G H5654600142Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy600142C1838577OMIM12859476602194
HP:0002071HP:0002267Exaggerated startle response1HTRA1 CL E G H5654600142Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy600142C1838577OMIM12859476602194
HP:0002071HP:0007153Progressive extrapyramidal movement disorder1HTRA1 CL E G H5654600142Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy600142C1838577OMIM12859476602194
HP:0002071HP:0002067Bradykinesia1HTRA1 CL E G H5654600142Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy600142C1838577OMIM12859476602194
HP:0002071HP:0011445Athetoid cerebral palsy1HTRA1 CL E G H5654600142Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy600142C1838577OMIM12859476602194
HP:0002071HP:0001300Parkinsonism1HTRA1 CL E G H5654600142Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy600142C1838577OMIM12859476602194
HP:0002071HP:0007308Extrapyramidal dyskinesia1HTRA1 CL E G H5654600142Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy600142C1838577OMIM12859476602194
HP:0002071HP:0011445Athetoid cerebral palsy1L2HGDH CL E G H7994479314ORPHA125320499609584
HP:0002071HP:0001300Parkinsonism1L2HGDH CL E G H7994479314ORPHA125320499609584
HP:0002071HP:0007308Extrapyramidal dyskinesia1L2HGDH CL E G H7994479314ORPHA125320499609584
HP:0002071HP:0007076Extrapyramidal muscular rigidity1L2HGDH CL E G H7994479314ORPHA125320499609584
HP:0002071HP:0002267Exaggerated startle response1L2HGDH CL E G H7994479314ORPHA125320499609584
HP:0002071HP:0007153Progressive extrapyramidal movement disorder1L2HGDH CL E G H7994479314ORPHA125320499609584
HP:0002071HP:0002067Bradykinesia1L2HGDH CL E G H7994479314ORPHA125320499609584
HP:0002071HP:0011445Athetoid cerebral palsy1L2HGDH CL E G H79944236792L-2-hydroxyglutaric aciduria236792C1855995OMIM125320499609584
HP:0002071HP:0001300Parkinsonism1L2HGDH CL E G H79944236792L-2-hydroxyglutaric aciduria236792C1855995OMIM125320499609584
HP:0002071HP:0007308Extrapyramidal dyskinesia1L2HGDH CL E G H79944236792L-2-hydroxyglutaric aciduria236792C1855995OMIM125320499609584
HP:0002071HP:0007076Extrapyramidal muscular rigidity1L2HGDH CL E G H79944236792L-2-hydroxyglutaric aciduria236792C1855995OMIM125320499609584
HP:0002071HP:0002267Exaggerated startle response1L2HGDH CL E G H79944236792L-2-hydroxyglutaric aciduria236792C1855995OMIM125320499609584
HP:0002071HP:0007153Progressive extrapyramidal movement disorder1L2HGDH CL E G H79944236792L-2-hydroxyglutaric aciduria236792C1855995OMIM125320499609584
HP:0002071HP:0002067Bradykinesia1L2HGDH CL E G H79944236792L-2-hydroxyglutaric aciduria236792C1855995OMIM125320499609584
HP:0002071HP:0007076Extrapyramidal muscular rigidity1LIMK1 CL E G H3984904Blepharophimosis nasal groove growth retardationORPHA12326613601329
HP:0002071HP:0002267Exaggerated startle response1LIMK1 CL E G H3984904Blepharophimosis nasal groove growth retardationORPHA12326613601329
HP:0002071HP:0007153Progressive extrapyramidal movement disorder1LIMK1 CL E G H3984904Blepharophimosis nasal groove growth retardationORPHA12326613601329
HP:0002071HP:0002067Bradykinesia1LIMK1 CL E G H3984904Blepharophimosis nasal groove growth retardationORPHA12326613601329
HP:0002071HP:0011445Athetoid cerebral palsy1LIMK1 CL E G H3984904Blepharophimosis nasal groove growth retardationORPHA12326613601329
HP:0002071HP:0001300Parkinsonism1LIMK1 CL E G H3984904Blepharophimosis nasal groove growth retardationORPHA12326613601329
HP:0002071HP:0007308Extrapyramidal dyskinesia1LIMK1 CL E G H3984904Blepharophimosis nasal groove growth retardationORPHA12326613601329
HP:0002071HP:0007153Progressive extrapyramidal movement disorder1LIPT1 CL E G H51601616299Lipoyltransferase 1 deficiency616299C4225379OMIM112429569610284
HP:0002071HP:0007076Extrapyramidal muscular rigidity1LIPT1 CL E G H51601616299Lipoyltransferase 1 deficiency616299C4225379OMIM112429569610284
HP:0002071HP:0002267Exaggerated startle response1LIPT1 CL E G H51601616299Lipoyltransferase 1 deficiency616299C4225379OMIM112429569610284
HP:0002071HP:0002067Bradykinesia1LIPT1 CL E G H51601616299Lipoyltransferase 1 deficiency616299C4225379OMIM112429569610284
HP:0002071HP:0011445Athetoid cerebral palsy1LIPT1 CL E G H51601616299Lipoyltransferase 1 deficiency616299C4225379OMIM112429569610284
HP:0002071HP:0001300Parkinsonism1LIPT1 CL E G H51601616299Lipoyltransferase 1 deficiency616299C4225379OMIM112429569610284
HP:0002071HP:0007308Extrapyramidal dyskinesia1LIPT1 CL E G H51601616299Lipoyltransferase 1 deficiency616299C4225379OMIM112429569610284
HP:0002071HP:0011445Athetoid cerebral palsy1MMACHC CL E G H25974277400Methylmalonic acidemia with homocystinuria277400C1848561OMIM152424525609831
HP:0002071HP:0001300Parkinsonism1MMACHC CL E G H25974277400Methylmalonic acidemia with homocystinuria277400C1848561OMIM152424525609831
HP:0002071HP:0007308Extrapyramidal dyskinesia1MMACHC CL E G H25974277400Methylmalonic acidemia with homocystinuria277400C1848561OMIM152424525609831
HP:0002071HP:0007076Extrapyramidal muscular rigidity1MMACHC CL E G H25974277400Methylmalonic acidemia with homocystinuria277400C1848561OMIM152424525609831
HP:0002071HP:0002267Exaggerated startle response1MMACHC CL E G H25974277400Methylmalonic acidemia with homocystinuria277400C1848561OMIM152424525609831
HP:0002071HP:0007153Progressive extrapyramidal movement disorder1MMACHC CL E G H25974277400Methylmalonic acidemia with homocystinuria277400C1848561OMIM152424525609831
HP:0002071HP:0002067Bradykinesia1MMACHC CL E G H25974277400Methylmalonic acidemia with homocystinuria277400C1848561OMIM152424525609831
HP:0002071HP:0002267Exaggerated startle response1NAGA CL E G H466879279ORPHA12307631104170
HP:0002071HP:0007153Progressive extrapyramidal movement disorder1NAGA CL E G H466879279ORPHA12307631104170
HP:0002071HP:0007076Extrapyramidal muscular rigidity1NAGA CL E G H466879279ORPHA12307631104170
HP:0002071HP:0002067Bradykinesia1NAGA CL E G H466879279ORPHA12307631104170
HP:0002071HP:0011445Athetoid cerebral palsy1NAGA CL E G H466879279ORPHA12307631104170
HP:0002071HP:0001300Parkinsonism1NAGA CL E G H466879279ORPHA12307631104170
HP:0002071HP:0007308Extrapyramidal dyskinesia1NAGA CL E G H466879279ORPHA12307631104170
HP:0002071HP:0011445Athetoid cerebral palsy1NDUFA1 CL E G H4694301020MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 12301020OMIM12097683300078
HP:0002071HP:0001300Parkinsonism1NDUFA1 CL E G H4694301020MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 12301020OMIM12097683300078
HP:0002071HP:0007308Extrapyramidal dyskinesia1NDUFA1 CL E G H4694301020MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 12301020OMIM12097683300078
HP:0002071HP:0007076Extrapyramidal muscular rigidity1NDUFA1 CL E G H4694301020MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 12301020OMIM12097683300078
HP:0002071HP:0002267Exaggerated startle response1NDUFA1 CL E G H4694301020MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 12301020OMIM12097683300078
HP:0002071HP:0007153Progressive extrapyramidal movement disorder1NDUFA1 CL E G H4694301020MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 12301020OMIM12097683300078
HP:0002071HP:0002067Bradykinesia1NDUFA1 CL E G H4694301020MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 12301020OMIM12097683300078
HP:0002071HP:0007153Progressive extrapyramidal movement disorder1NDUFAF5 CL E G H79133618238MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 16618238OMIM138315899612360
HP:0002071HP:0007076Extrapyramidal muscular rigidity1NDUFAF5 CL E G H79133618238MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 16618238OMIM138315899612360
HP:0002071HP:0002267Exaggerated startle response1NDUFAF5 CL E G H79133618238MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 16618238OMIM138315899612360
HP:0002071HP:0002067Bradykinesia1NDUFAF5 CL E G H79133618238MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 16618238OMIM138315899612360
HP:0002071HP:0001300Parkinsonism1NDUFAF5 CL E G H79133618238MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 16618238OMIM138315899612360
HP:0002071HP:0011445Athetoid cerebral palsy1NDUFAF5 CL E G H79133618238MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 16618238OMIM138315899612360
HP:0002071HP:0007308Extrapyramidal dyskinesia1NDUFAF5 CL E G H79133618238MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 16618238OMIM138315899612360
HP:0002071HP:0011445Athetoid cerebral palsy1NDUFS7 CL E G H374291618224MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 3618224OMIM12157714601825
HP:0002071HP:0001300Parkinsonism1NDUFS7 CL E G H374291618224MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 3618224OMIM12157714601825
HP:0002071HP:0007308Extrapyramidal dyskinesia1NDUFS7 CL E G H374291618224MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 3618224OMIM12157714601825
HP:0002071HP:0007076Extrapyramidal muscular rigidity1NDUFS7 CL E G H374291618224MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 3618224OMIM12157714601825
HP:0002071HP:0002267Exaggerated startle response1NDUFS7 CL E G H374291618224MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 3618224OMIM12157714601825
HP:0002071HP:0007153Progressive extrapyramidal movement disorder1NDUFS7 CL E G H374291618224MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 3618224OMIM12157714601825
HP:0002071HP:0002067Bradykinesia1NDUFS7 CL E G H374291618224MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 3618224OMIM12157714601825
HP:0002071HP:0011445Athetoid cerebral palsy1OPA3 CL E G H802072585013-Methylglutaconic aciduria type 3258501C0574084OMIM15238142606580
HP:0002071HP:0001300Parkinsonism1OPA3 CL E G H802072585013-Methylglutaconic aciduria type 3258501C0574084OMIM15238142606580
HP:0002071HP:0007308Extrapyramidal dyskinesia1OPA3 CL E G H802072585013-Methylglutaconic aciduria type 3258501C0574084OMIM15238142606580
HP:0002071HP:0007076Extrapyramidal muscular rigidity1OPA3 CL E G H802072585013-Methylglutaconic aciduria type 3258501C0574084OMIM15238142606580
HP:0002071HP:0002267Exaggerated startle response1OPA3 CL E G H802072585013-Methylglutaconic aciduria type 3258501C0574084OMIM15238142606580
HP:0002071HP:0007153Progressive extrapyramidal movement disorder1OPA3 CL E G H802072585013-Methylglutaconic aciduria type 3258501C0574084OMIM15238142606580
HP:0002071HP:0002067Bradykinesia1OPA3 CL E G H802072585013-Methylglutaconic aciduria type 3258501C0574084OMIM15238142606580
HP:0002071HP:0007153Progressive extrapyramidal movement disorder1OPA3 CL E G H80207165300Optic atrophy and cataract, autosomal dominant165300C1833809OMIM15238142606580
HP:0002071HP:0007076Extrapyramidal muscular rigidity1OPA3 CL E G H80207165300Optic atrophy and cataract, autosomal dominant165300C1833809OMIM15238142606580
HP:0002071HP:0002267Exaggerated startle response1OPA3 CL E G H80207165300Optic atrophy and cataract, autosomal dominant165300C1833809OMIM15238142606580
HP:0002071HP:0002067Bradykinesia1OPA3 CL E G H80207165300Optic atrophy and cataract, autosomal dominant165300C1833809OMIM15238142606580
HP:0002071HP:0011445Athetoid cerebral palsy1OPA3 CL E G H80207165300Optic atrophy and cataract, autosomal dominant165300C1833809OMIM15238142606580
HP:0002071HP:0001300Parkinsonism1OPA3 CL E G H80207165300Optic atrophy and cataract, autosomal dominant165300C1833809OMIM15238142606580
HP:0002071HP:0007308Extrapyramidal dyskinesia1OPA3 CL E G H80207165300Optic atrophy and cataract, autosomal dominant165300C1833809OMIM15238142606580
HP:0002071HP:0011445Athetoid cerebral palsy1PLP1 CL E G H535499015ORPHA14519086300401
HP:0002071HP:0001300Parkinsonism1PLP1 CL E G H535499015ORPHA14519086300401
HP:0002071HP:0007308Extrapyramidal dyskinesia1PLP1 CL E G H535499015ORPHA14519086300401
HP:0002071HP:0007076Extrapyramidal muscular rigidity1PLP1 CL E G H535499015ORPHA14519086300401
HP:0002071HP:0002267Exaggerated startle response1PLP1 CL E G H535499015ORPHA14519086300401
HP:0002071HP:0007153Progressive extrapyramidal movement disorder1PLP1 CL E G H535499015ORPHA14519086300401
HP:0002071HP:0002067Bradykinesia1PLP1 CL E G H535499015ORPHA14519086300401
HP:0002071HP:0002267Exaggerated startle response1PRDX1 CL E G H5052277400Methylmalonic acidemia with homocystinuria277400C1848561OMIM1649352176763
HP:0002071HP:0007153Progressive extrapyramidal movement disorder1PRDX1 CL E G H5052277400Methylmalonic acidemia with homocystinuria277400C1848561OMIM1649352176763
HP:0002071HP:0007076Extrapyramidal muscular rigidity1PRDX1 CL E G H5052277400Methylmalonic acidemia with homocystinuria277400C1848561OMIM1649352176763
HP:0002071HP:0002067Bradykinesia1PRDX1 CL E G H5052277400Methylmalonic acidemia with homocystinuria277400C1848561OMIM1649352176763
HP:0002071HP:0011445Athetoid cerebral palsy1PRDX1 CL E G H5052277400Methylmalonic acidemia with homocystinuria277400C1848561OMIM1649352176763
HP:0002071HP:0001300Parkinsonism1PRDX1 CL E G H5052277400Methylmalonic acidemia with homocystinuria277400C1848561OMIM1649352176763
HP:0002071HP:0007308Extrapyramidal dyskinesia1PRDX1 CL E G H5052277400Methylmalonic acidemia with homocystinuria277400C1848561OMIM1649352176763
HP:0002071HP:0001300Parkinsonism1PSEN1 CL E G H5663607822Alzheimer disease, type 3607822C1843013OMIM15019508104311
HP:0002071HP:0011445Athetoid cerebral palsy1PSEN1 CL E G H5663607822Alzheimer disease, type 3607822C1843013OMIM15019508104311
HP:0002071HP:0007308Extrapyramidal dyskinesia1PSEN1 CL E G H5663607822Alzheimer disease, type 3607822C1843013OMIM15019508104311
HP:0002071HP:0007153Progressive extrapyramidal movement disorder1PSEN1 CL E G H5663607822Alzheimer disease, type 3607822C1843013OMIM15019508104311
HP:0002071HP:0007076Extrapyramidal muscular rigidity1PSEN1 CL E G H5663607822Alzheimer disease, type 3607822C1843013OMIM15019508104311
HP:0002071HP:0002267Exaggerated startle response1PSEN1 CL E G H5663607822Alzheimer disease, type 3607822C1843013OMIM15019508104311
HP:0002071HP:0002067Bradykinesia1PSEN1 CL E G H5663607822Alzheimer disease, type 3607822C1843013OMIM15019508104311
HP:0002071HP:0007153Progressive extrapyramidal movement disorder1RARS CL E G H5917616140Leukodystrophy, hypomyelinating, 9616140C4015323OMIM19870107820
HP:0002071HP:0007076Extrapyramidal muscular rigidity1RARS CL E G H5917616140Leukodystrophy, hypomyelinating, 9616140C4015323OMIM19870107820
HP:0002071HP:0002267Exaggerated startle response1RARS CL E G H5917616140Leukodystrophy, hypomyelinating, 9616140C4015323OMIM19870107820
HP:0002071HP:0002067Bradykinesia1RARS CL E G H5917616140Leukodystrophy, hypomyelinating, 9616140C4015323OMIM19870107820
HP:0002071HP:0011445Athetoid cerebral palsy1RARS CL E G H5917616140Leukodystrophy, hypomyelinating, 9616140C4015323OMIM19870107820
HP:0002071HP:0001300Parkinsonism1RARS CL E G H5917616140Leukodystrophy, hypomyelinating, 9616140C4015323OMIM19870107820
HP:0002071HP:0007308Extrapyramidal dyskinesia1RARS CL E G H5917616140Leukodystrophy, hypomyelinating, 9616140C4015323OMIM19870107820
HP:0002071HP:0011445Athetoid cerebral palsy1RFC2 CL E G H5982904Blepharophimosis nasal groove growth retardationORPHA12009970600404
HP:0002071HP:0001300Parkinsonism1RFC2 CL E G H5982904Blepharophimosis nasal groove growth retardationORPHA12009970600404
HP:0002071HP:0007308Extrapyramidal dyskinesia1RFC2 CL E G H5982904Blepharophimosis nasal groove growth retardationORPHA12009970600404
HP:0002071HP:0007076Extrapyramidal muscular rigidity1RFC2 CL E G H5982904Blepharophimosis nasal groove growth retardationORPHA12009970600404
HP:0002071HP:0002267Exaggerated startle response1RFC2 CL E G H5982904Blepharophimosis nasal groove growth retardationORPHA12009970600404
HP:0002071HP:0007153Progressive extrapyramidal movement disorder1RFC2 CL E G H5982904Blepharophimosis nasal groove growth retardationORPHA12009970600404
HP:0002071HP:0002067Bradykinesia1RFC2 CL E G H5982904Blepharophimosis nasal groove growth retardationORPHA12009970600404
HP:0002071HP:0011445Athetoid cerebral palsy1SERAC1 CL E G H849476147393-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome614739C3553597OMIM140021061614725
HP:0002071HP:0001300Parkinsonism1SERAC1 CL E G H849476147393-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome614739C3553597OMIM140021061614725
HP:0002071HP:0007308Extrapyramidal dyskinesia1SERAC1 CL E G H849476147393-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome614739C3553597OMIM140021061614725
HP:0002071HP:0002267Exaggerated startle response1SERAC1 CL E G H849476147393-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome614739C3553597OMIM140021061614725
HP:0002071HP:0007153Progressive extrapyramidal movement disorder1SERAC1 CL E G H849476147393-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome614739C3553597OMIM140021061614725
HP:0002071HP:0007076Extrapyramidal muscular rigidity1SERAC1 CL E G H849476147393-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome614739C3553597OMIM140021061614725
HP:0002071HP:0002067Bradykinesia1SERAC1 CL E G H849476147393-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome614739C3553597OMIM140021061614725
HP:0002071HP:0001300Parkinsonism1SERPINI1 CL E G H5274604218Encephalopathy, familial, with neuroserpin inclusion bodies604218C1858680OMIM13108943602445
HP:0002071HP:0011445Athetoid cerebral palsy1SERPINI1 CL E G H5274604218Encephalopathy, familial, with neuroserpin inclusion bodies604218C1858680OMIM13108943602445
HP:0002071HP:0007308Extrapyramidal dyskinesia1SERPINI1 CL E G H5274604218Encephalopathy, familial, with neuroserpin inclusion bodies604218C1858680OMIM13108943602445
HP:0002071HP:0007153Progressive extrapyramidal movement disorder1SERPINI1 CL E G H5274604218Encephalopathy, familial, with neuroserpin inclusion bodies604218C1858680OMIM13108943602445
HP:0002071HP:0007076Extrapyramidal muscular rigidity1SERPINI1 CL E G H5274604218Encephalopathy, familial, with neuroserpin inclusion bodies604218C1858680OMIM13108943602445
HP:0002071HP:0002267Exaggerated startle response1SERPINI1 CL E G H5274604218Encephalopathy, familial, with neuroserpin inclusion bodies604218C1858680OMIM13108943602445
HP:0002071HP:0002067Bradykinesia1SERPINI1 CL E G H5274604218Encephalopathy, familial, with neuroserpin inclusion bodies604218C1858680OMIM13108943602445
HP:0002071HP:0007076Extrapyramidal muscular rigidity1SNORD118 CL E G H727676614561Leukoencephalopathy, brain calcifications, and cysts614561C3281200OMIM118932952616663
HP:0002071HP:0002267Exaggerated startle response1SNORD118 CL E G H727676614561Leukoencephalopathy, brain calcifications, and cysts614561C3281200OMIM118932952616663
HP:0002071HP:0007153Progressive extrapyramidal movement disorder1SNORD118 CL E G H727676614561Leukoencephalopathy, brain calcifications, and cysts614561C3281200OMIM118932952616663
HP:0002071HP:0002067Bradykinesia1SNORD118 CL E G H727676614561Leukoencephalopathy, brain calcifications, and cysts614561C3281200OMIM118932952616663
HP:0002071HP:0011445Athetoid cerebral palsy1SNORD118 CL E G H727676614561Leukoencephalopathy, brain calcifications, and cysts614561C3281200OMIM118932952616663
HP:0002071HP:0001300Parkinsonism1SNORD118 CL E G H727676614561Leukoencephalopathy, brain calcifications, and cysts614561C3281200OMIM118932952616663
HP:0002071HP:0007308Extrapyramidal dyskinesia1SNORD118 CL E G H727676614561Leukoencephalopathy, brain calcifications, and cysts614561C3281200OMIM118932952616663
HP:0002071HP:0011445Athetoid cerebral palsy1TBC1D24 CL E G H57465615338Early infantile epileptic encephalopathy 16615338C3809173OMIM189329203613577
HP:0002071HP:0001300Parkinsonism1TBC1D24 CL E G H57465615338Early infantile epileptic encephalopathy 16615338C3809173OMIM189329203613577
HP:0002071HP:0007308Extrapyramidal dyskinesia1TBC1D24 CL E G H57465615338Early infantile epileptic encephalopathy 16615338C3809173OMIM189329203613577
HP:0002071HP:0002267Exaggerated startle response1TBC1D24 CL E G H57465615338Early infantile epileptic encephalopathy 16615338C3809173OMIM189329203613577
HP:0002071HP:0007153Progressive extrapyramidal movement disorder1TBC1D24 CL E G H57465615338Early infantile epileptic encephalopathy 16615338C3809173OMIM189329203613577
HP:0002071HP:0007076Extrapyramidal muscular rigidity1TBC1D24 CL E G H57465615338Early infantile epileptic encephalopathy 16615338C3809173OMIM189329203613577
HP:0002071HP:0002067Bradykinesia1TBC1D24 CL E G H57465615338Early infantile epileptic encephalopathy 16615338C3809173OMIM189329203613577
HP:0002071HP:0007153Progressive extrapyramidal movement disorder1TBL2 CL E G H26608904Blepharophimosis nasal groove growth retardationORPHA119411586605842
HP:0002071HP:0007076Extrapyramidal muscular rigidity1TBL2 CL E G H26608904Blepharophimosis nasal groove growth retardationORPHA119411586605842
HP:0002071HP:0002267Exaggerated startle response1TBL2 CL E G H26608904Blepharophimosis nasal groove growth retardationORPHA119411586605842
HP:0002071HP:0002067Bradykinesia1TBL2 CL E G H26608904Blepharophimosis nasal groove growth retardationORPHA119411586605842
HP:0002071HP:0011445Athetoid cerebral palsy1TBL2 CL E G H26608904Blepharophimosis nasal groove growth retardationORPHA119411586605842
HP:0002071HP:0001300Parkinsonism1TBL2 CL E G H26608904Blepharophimosis nasal groove growth retardationORPHA119411586605842
HP:0002071HP:0007308Extrapyramidal dyskinesia1TBL2 CL E G H26608904Blepharophimosis nasal groove growth retardationORPHA119411586605842
HP:0002071HP:0007076Extrapyramidal muscular rigidity1TMEM240 CL E G H33945398773ORPHA123725186616101
HP:0002071HP:0002267Exaggerated startle response1TMEM240 CL E G H33945398773ORPHA123725186616101
HP:0002071HP:0007153Progressive extrapyramidal movement disorder1TMEM240 CL E G H33945398773ORPHA123725186616101
HP:0002071HP:0002067Bradykinesia1TMEM240 CL E G H33945398773ORPHA123725186616101
HP:0002071HP:0011445Athetoid cerebral palsy1TMEM240 CL E G H33945398773ORPHA123725186616101
HP:0002071HP:0001300Parkinsonism1TMEM240 CL E G H33945398773ORPHA123725186616101
HP:0002071HP:0007308Extrapyramidal dyskinesia1TMEM240 CL E G H33945398773ORPHA123725186616101
HP:0002071HP:0007076Extrapyramidal muscular rigidity1TMEM240 CL E G H339453607454Spinocerebellar ataxia 21607454C1843891OMIM123725186616101
HP:0002071HP:0002267Exaggerated startle response1TMEM240 CL E G H339453607454Spinocerebellar ataxia 21607454C1843891OMIM123725186616101
HP:0002071HP:0007153Progressive extrapyramidal movement disorder1TMEM240 CL E G H339453607454Spinocerebellar ataxia 21607454C1843891OMIM123725186616101
HP:0002071HP:0002067Bradykinesia1TMEM240 CL E G H339453607454Spinocerebellar ataxia 21607454C1843891OMIM123725186616101
HP:0002071HP:0011445Athetoid cerebral palsy1TMEM240 CL E G H339453607454Spinocerebellar ataxia 21607454C1843891OMIM123725186616101
HP:0002071HP:0001300Parkinsonism1TMEM240 CL E G H339453607454Spinocerebellar ataxia 21607454C1843891OMIM123725186616101
HP:0002071HP:0007308Extrapyramidal dyskinesia1TMEM240 CL E G H339453607454Spinocerebellar ataxia 21607454C1843891OMIM123725186616101
HP:0002071HP:0007153Progressive extrapyramidal movement disorder1TREX1 CL E G H11277225750Aicardi Goutieres syndrome 1225750C0796126OMIM141812269606609
HP:0002071HP:0007076Extrapyramidal muscular rigidity1TREX1 CL E G H11277225750Aicardi Goutieres syndrome 1225750C0796126OMIM141812269606609
HP:0002071HP:0002267Exaggerated startle response1TREX1 CL E G H11277225750Aicardi Goutieres syndrome 1225750C0796126OMIM141812269606609
HP:0002071HP:0002067Bradykinesia1TREX1 CL E G H11277225750Aicardi Goutieres syndrome 1225750C0796126OMIM141812269606609
HP:0002071HP:0001300Parkinsonism1TREX1 CL E G H11277225750Aicardi Goutieres syndrome 1225750C0796126OMIM141812269606609
HP:0002071HP:0011445Athetoid cerebral palsy1TREX1 CL E G H11277225750Aicardi Goutieres syndrome 1225750C0796126OMIM141812269606609
HP:0002071HP:0007308Extrapyramidal dyskinesia1TREX1 CL E G H11277225750Aicardi Goutieres syndrome 1225750C0796126OMIM141812269606609
HP:0002071HP:0007076Extrapyramidal muscular rigidity1UQCRQ CL E G H27089615159Mitochondrial complex III deficiency, nuclear type 4615159C3554607OMIM110229594612080
HP:0002071HP:0002267Exaggerated startle response1UQCRQ CL E G H27089615159Mitochondrial complex III deficiency, nuclear type 4615159C3554607OMIM110229594612080
HP:0002071HP:0007153Progressive extrapyramidal movement disorder1UQCRQ CL E G H27089615159Mitochondrial complex III deficiency, nuclear type 4615159C3554607OMIM110229594612080
HP:0002071HP:0002067Bradykinesia1UQCRQ CL E G H27089615159Mitochondrial complex III deficiency, nuclear type 4615159C3554607OMIM110229594612080
HP:0002071HP:0011445Athetoid cerebral palsy1UQCRQ CL E G H27089615159Mitochondrial complex III deficiency, nuclear type 4615159C3554607OMIM110229594612080
HP:0002071HP:0001300Parkinsonism1UQCRQ CL E G H27089615159Mitochondrial complex III deficiency, nuclear type 4615159C3554607OMIM110229594612080
HP:0002071HP:0007308Extrapyramidal dyskinesia1UQCRQ CL E G H27089615159Mitochondrial complex III deficiency, nuclear type 4615159C3554607OMIM110229594612080
HP:0002071HP:0007076Extrapyramidal muscular rigidity1ZFYVE26 CL E G H23503100996ORPHA1240820761612012
HP:0002071HP:0002267Exaggerated startle response1ZFYVE26 CL E G H23503100996ORPHA1240820761612012
HP:0002071HP:0007153Progressive extrapyramidal movement disorder1ZFYVE26 CL E G H23503100996ORPHA1240820761612012
HP:0002071HP:0002067Bradykinesia1ZFYVE26 CL E G H23503100996ORPHA1240820761612012
HP:0002071HP:0011445Athetoid cerebral palsy1ZFYVE26 CL E G H23503100996ORPHA1240820761612012
HP:0002071HP:0001300Parkinsonism1ZFYVE26 CL E G H23503100996ORPHA1240820761612012
HP:0002071HP:0007308Extrapyramidal dyskinesia1ZFYVE26 CL E G H23503100996ORPHA1240820761612012
HP:0002071HP:0002548Parkinsonism with favorable response to dopaminergic medication2ALG13 CL E G H79868300884Epileptic encephalopathy, early infantile, 36300884C3550904OMIM195030881300776
HP:0002071HP:0007158Progressive extrapyramidal muscular rigidity2ALG13 CL E G H79868300884Epileptic encephalopathy, early infantile, 36300884C3550904OMIM195030881300776
HP:0002071HP:0002548Parkinsonism with favorable response to dopaminergic medication2ATXN1 CL E G H6310164400Spinocerebellar ataxia 1164400C0752120OMIM112010548601556
HP:0002071HP:0007158Progressive extrapyramidal muscular rigidity2ATXN1 CL E G H6310164400Spinocerebellar ataxia 1164400C0752120OMIM112010548601556
HP:0002071HP:0002548Parkinsonism with favorable response to dopaminergic medication2ATXN10 CL E G H25814603516Spinocerebellar ataxia 10603516C1963674OMIM111610549611150
HP:0002071HP:0007158Progressive extrapyramidal muscular rigidity2ATXN10 CL E G H25814603516Spinocerebellar ataxia 10603516C1963674OMIM111610549611150
HP:0002071HP:0007158Progressive extrapyramidal muscular rigidity2ATXN3 CL E G H4287276241ORPHA1657106607047
HP:0002071HP:0002548Parkinsonism with favorable response to dopaminergic medication2ATXN3 CL E G H4287276238ORPHA1657106607047
HP:0002071HP:0002548Parkinsonism with favorable response to dopaminergic medication2ATXN3 CL E G H4287276244ORPHA1657106607047
HP:0002071HP:0002548Parkinsonism with favorable response to dopaminergic medication2ATXN3 CL E G H4287276241ORPHA1657106607047
HP:0002071HP:0007158Progressive extrapyramidal muscular rigidity2ATXN3 CL E G H4287276238ORPHA1657106607047
HP:0002071HP:0007158Progressive extrapyramidal muscular rigidity2ATXN3 CL E G H4287276244ORPHA1657106607047
HP:0002071HP:0007158Progressive extrapyramidal muscular rigidity2ATXN7 CL E G H6314164500Spinocerebellar ataxia 7164500C0752125OMIM19810560607640
HP:0002071HP:0002548Parkinsonism with favorable response to dopaminergic medication2ATXN7 CL E G H6314164500Spinocerebellar ataxia 7164500C0752125OMIM19810560607640
HP:0002071HP:0007158Progressive extrapyramidal muscular rigidity2BAZ1B CL E G H9031904Blepharophimosis nasal groove growth retardationORPHA1249961605681
HP:0002071HP:0002548Parkinsonism with favorable response to dopaminergic medication2BAZ1B CL E G H9031904Blepharophimosis nasal groove growth retardationORPHA1249961605681
HP:0002071HP:0007158Progressive extrapyramidal muscular rigidity2BOLA3 CL E G H388962614299Multiple mitochondrial dysfunctions syndrome 2614299C3280378OMIM110224415613183
HP:0002071HP:0002548Parkinsonism with favorable response to dopaminergic medication2BOLA3 CL E G H388962614299Multiple mitochondrial dysfunctions syndrome 2614299C3280378OMIM110224415613183
HP:0002071HP:0002548Parkinsonism with favorable response to dopaminergic medication2CLIP2 CL E G H7461904Blepharophimosis nasal groove growth retardationORPHA12292586603432
HP:0002071HP:0007158Progressive extrapyramidal muscular rigidity2CLIP2 CL E G H7461904Blepharophimosis nasal groove growth retardationORPHA12292586603432
HP:0002071HP:0007158Progressive extrapyramidal muscular rigidity2CLN6 CL E G H54982204300Adult neuronal ceroid lipofuscinosis204300C0022797OMIM16612077606725
HP:0002071HP:0002548Parkinsonism with favorable response to dopaminergic medication2CLN6 CL E G H54982204300Adult neuronal ceroid lipofuscinosis204300C0022797OMIM16612077606725
HP:0002071HP:0007158Progressive extrapyramidal muscular rigidity2CLPB CL E G H815706162713-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia616271C4225393OMIM158530664616254
HP:0002071HP:0002548Parkinsonism with favorable response to dopaminergic medication2CLPB CL E G H815706162713-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia616271C4225393OMIM158530664616254
HP:0002071HP:0002548Parkinsonism with favorable response to dopaminergic medication2CTC1 CL E G H80169612199Cerebroretinal microangiopathy with calcifications and cysts 1612199C2677299OMIM1129226169613129
HP:0002071HP:0007158Progressive extrapyramidal muscular rigidity2CTC1 CL E G H80169612199Cerebroretinal microangiopathy with calcifications and cysts 1612199C2677299OMIM1129226169613129
HP:0002071HP:0002548Parkinsonism with favorable response to dopaminergic medication2CTSF CL E G H8722615362Ceroid lipofuscinosis, neuronal, 13615362C3715049OMIM12182531603539
HP:0002071HP:0007158Progressive extrapyramidal muscular rigidity2CTSF CL E G H8722615362Ceroid lipofuscinosis, neuronal, 13615362C3715049OMIM12182531603539
HP:0002071HP:0007158Progressive extrapyramidal muscular rigidity2CYP27A1 CL E G H1593909ORPHA19402605606530
HP:0002071HP:0002548Parkinsonism with favorable response to dopaminergic medication2CYP27A1 CL E G H1593909ORPHA19402605606530
HP:0002071HP:0002548Parkinsonism with favorable response to dopaminergic medication2DCAF17 CL E G H80067241080Hypogonadism, diabetes mellitus, alopecia, mental retardation and electrocardiographic abnormalities241080C0342286OMIM136625784612515
HP:0002071HP:0007158Progressive extrapyramidal muscular rigidity2DCAF17 CL E G H80067241080Hypogonadism, diabetes mellitus, alopecia, mental retardation and electrocardiographic abnormalities241080C0342286OMIM136625784612515
HP:0002071HP:0007158Progressive extrapyramidal muscular rigidity2ELN CL E G H2006904Blepharophimosis nasal groove growth retardationORPHA19663327130160
HP:0002071HP:0002548Parkinsonism with favorable response to dopaminergic medication2ELN CL E G H2006904Blepharophimosis nasal groove growth retardationORPHA19663327130160
HP:0002071HP:0007158Progressive extrapyramidal muscular rigidity2ETHE1 CL E G H2347451188ORPHA133823287608451
HP:0002071HP:0002548Parkinsonism with favorable response to dopaminergic medication2ETHE1 CL E G H2347451188ORPHA133823287608451
HP:0002071HP:0007158Progressive extrapyramidal muscular rigidity2ETHE1 CL E G H23474602473Ethylmalonic encephalopathy602473C1865349OMIM133823287608451
HP:0002071HP:0002548Parkinsonism with favorable response to dopaminergic medication2ETHE1 CL E G H23474602473Ethylmalonic encephalopathy602473C1865349OMIM133823287608451
HP:0002071HP:0002548Parkinsonism with favorable response to dopaminergic medication2FBXO7 CL E G H25793260300Parkinson disease 15260300C1850100OMIM124313586605648
HP:0002071HP:0007158Progressive extrapyramidal muscular rigidity2FBXO7 CL E G H25793260300Parkinson disease 15260300C1850100OMIM124313586605648
HP:0002071HP:0007158Progressive extrapyramidal muscular rigidity2GCDH CL E G H263925ORPHA17204189608801
HP:0002071HP:0002548Parkinsonism with favorable response to dopaminergic medication2GCDH CL E G H263925ORPHA17204189608801
HP:0002071HP:0002548Parkinsonism with favorable response to dopaminergic medication2GTF2I CL E G H2969904Blepharophimosis nasal groove growth retardationORPHA11784659601679
HP:0002071HP:0007158Progressive extrapyramidal muscular rigidity2GTF2I CL E G H2969904Blepharophimosis nasal groove growth retardationORPHA11784659601679
HP:0002071HP:0007158Progressive extrapyramidal muscular rigidity2GTF2IRD1 CL E G H9569904Blepharophimosis nasal groove growth retardationORPHA12664661604318
HP:0002071HP:0002548Parkinsonism with favorable response to dopaminergic medication2GTF2IRD1 CL E G H9569904Blepharophimosis nasal groove growth retardationORPHA12664661604318
HP:0002071HP:0007158Progressive extrapyramidal muscular rigidity2HPRT1 CL E G H3251300322Lesch-Nyhan syndrome300322C0023374OMIM13545157308000
HP:0002071HP:0002548Parkinsonism with favorable response to dopaminergic medication2HPRT1 CL E G H3251300322Lesch-Nyhan syndrome300322C0023374OMIM13545157308000
HP:0002071HP:0002548Parkinsonism with favorable response to dopaminergic medication2HTRA1 CL E G H5654600142Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy600142C1838577OMIM12859476602194
HP:0002071HP:0007158Progressive extrapyramidal muscular rigidity2HTRA1 CL E G H5654600142Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy600142C1838577OMIM12859476602194
HP:0002071HP:0007158Progressive extrapyramidal muscular rigidity2L2HGDH CL E G H7994479314ORPHA125320499609584
HP:0002071HP:0002548Parkinsonism with favorable response to dopaminergic medication2L2HGDH CL E G H7994479314ORPHA125320499609584
HP:0002071HP:0007158Progressive extrapyramidal muscular rigidity2L2HGDH CL E G H79944236792L-2-hydroxyglutaric aciduria236792C1855995OMIM125320499609584
HP:0002071HP:0002548Parkinsonism with favorable response to dopaminergic medication2L2HGDH CL E G H79944236792L-2-hydroxyglutaric aciduria236792C1855995OMIM125320499609584
HP:0002071HP:0002548Parkinsonism with favorable response to dopaminergic medication2LIMK1 CL E G H3984904Blepharophimosis nasal groove growth retardationORPHA12326613601329
HP:0002071HP:0007158Progressive extrapyramidal muscular rigidity2LIMK1 CL E G H3984904Blepharophimosis nasal groove growth retardationORPHA12326613601329
HP:0002071HP:0002548Parkinsonism with favorable response to dopaminergic medication2LIPT1 CL E G H51601616299Lipoyltransferase 1 deficiency616299C4225379OMIM112429569610284
HP:0002071HP:0007158Progressive extrapyramidal muscular rigidity2LIPT1 CL E G H51601616299Lipoyltransferase 1 deficiency616299C4225379OMIM112429569610284
HP:0002071HP:0007158Progressive extrapyramidal muscular rigidity2MMACHC CL E G H25974277400Methylmalonic acidemia with homocystinuria277400C1848561OMIM152424525609831
HP:0002071HP:0002548Parkinsonism with favorable response to dopaminergic medication2MMACHC CL E G H25974277400Methylmalonic acidemia with homocystinuria277400C1848561OMIM152424525609831
HP:0002071HP:0002548Parkinsonism with favorable response to dopaminergic medication2NAGA CL E G H466879279ORPHA12307631104170
HP:0002071HP:0007158Progressive extrapyramidal muscular rigidity2NAGA CL E G H466879279ORPHA12307631104170
HP:0002071HP:0007158Progressive extrapyramidal muscular rigidity2NDUFA1 CL E G H4694301020MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 12301020OMIM12097683300078
HP:0002071HP:0002548Parkinsonism with favorable response to dopaminergic medication2NDUFA1 CL E G H4694301020MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 12301020OMIM12097683300078
HP:0002071HP:0002548Parkinsonism with favorable response to dopaminergic medication2NDUFAF5 CL E G H79133618238MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 16618238OMIM138315899612360
HP:0002071HP:0007158Progressive extrapyramidal muscular rigidity2NDUFAF5 CL E G H79133618238MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 16618238OMIM138315899612360
HP:0002071HP:0007158Progressive extrapyramidal muscular rigidity2NDUFS7 CL E G H374291618224MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 3618224OMIM12157714601825
HP:0002071HP:0002548Parkinsonism with favorable response to dopaminergic medication2NDUFS7 CL E G H374291618224MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 3618224OMIM12157714601825
HP:0002071HP:0007158Progressive extrapyramidal muscular rigidity2OPA3 CL E G H802072585013-Methylglutaconic aciduria type 3258501C0574084OMIM15238142606580
HP:0002071HP:0002548Parkinsonism with favorable response to dopaminergic medication2OPA3 CL E G H802072585013-Methylglutaconic aciduria type 3258501C0574084OMIM15238142606580
HP:0002071HP:0002548Parkinsonism with favorable response to dopaminergic medication2OPA3 CL E G H80207165300Optic atrophy and cataract, autosomal dominant165300C1833809OMIM15238142606580
HP:0002071HP:0007158Progressive extrapyramidal muscular rigidity2OPA3 CL E G H80207165300Optic atrophy and cataract, autosomal dominant165300C1833809OMIM15238142606580
HP:0002071HP:0007158Progressive extrapyramidal muscular rigidity2PLP1 CL E G H535499015ORPHA14519086300401
HP:0002071HP:0002548Parkinsonism with favorable response to dopaminergic medication2PLP1 CL E G H535499015ORPHA14519086300401
HP:0002071HP:0002548Parkinsonism with favorable response to dopaminergic medication2PRDX1 CL E G H5052277400Methylmalonic acidemia with homocystinuria277400C1848561OMIM1649352176763
HP:0002071HP:0007158Progressive extrapyramidal muscular rigidity2PRDX1 CL E G H5052277400Methylmalonic acidemia with homocystinuria277400C1848561OMIM1649352176763
HP:0002071HP:0007158Progressive extrapyramidal muscular rigidity2PSEN1 CL E G H5663607822Alzheimer disease, type 3607822C1843013OMIM15019508104311
HP:0002071HP:0002548Parkinsonism with favorable response to dopaminergic medication2PSEN1 CL E G H5663607822Alzheimer disease, type 3607822C1843013OMIM15019508104311
HP:0002071HP:0002548Parkinsonism with favorable response to dopaminergic medication2RARS CL E G H5917616140Leukodystrophy, hypomyelinating, 9616140C4015323OMIM19870107820
HP:0002071HP:0007158Progressive extrapyramidal muscular rigidity2RARS CL E G H5917616140Leukodystrophy, hypomyelinating, 9616140C4015323OMIM19870107820
HP:0002071HP:0007158Progressive extrapyramidal muscular rigidity2RFC2 CL E G H5982904Blepharophimosis nasal groove growth retardationORPHA12009970600404
HP:0002071HP:0002548Parkinsonism with favorable response to dopaminergic medication2RFC2 CL E G H5982904Blepharophimosis nasal groove growth retardationORPHA12009970600404
HP:0002071HP:0007158Progressive extrapyramidal muscular rigidity2SERAC1 CL E G H849476147393-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome614739C3553597OMIM140021061614725
HP:0002071HP:0002548Parkinsonism with favorable response to dopaminergic medication2SERAC1 CL E G H849476147393-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome614739C3553597OMIM140021061614725
HP:0002071HP:0007158Progressive extrapyramidal muscular rigidity2SERPINI1 CL E G H5274604218Encephalopathy, familial, with neuroserpin inclusion bodies604218C1858680OMIM13108943602445
HP:0002071HP:0002548Parkinsonism with favorable response to dopaminergic medication2SERPINI1 CL E G H5274604218Encephalopathy, familial, with neuroserpin inclusion bodies604218C1858680OMIM13108943602445
HP:0002071HP:0002548Parkinsonism with favorable response to dopaminergic medication2SNORD118 CL E G H727676614561Leukoencephalopathy, brain calcifications, and cysts614561C3281200OMIM118932952616663
HP:0002071HP:0007158Progressive extrapyramidal muscular rigidity2SNORD118 CL E G H727676614561Leukoencephalopathy, brain calcifications, and cysts614561C3281200OMIM118932952616663
HP:0002071HP:0007158Progressive extrapyramidal muscular rigidity2TBC1D24 CL E G H57465615338Early infantile epileptic encephalopathy 16615338C3809173OMIM189329203613577
HP:0002071HP:0002548Parkinsonism with favorable response to dopaminergic medication2TBC1D24 CL E G H57465615338Early infantile epileptic encephalopathy 16615338C3809173OMIM189329203613577
HP:0002071HP:0002548Parkinsonism with favorable response to dopaminergic medication2TBL2 CL E G H26608904Blepharophimosis nasal groove growth retardationORPHA119411586605842
HP:0002071HP:0007158Progressive extrapyramidal muscular rigidity2TBL2 CL E G H26608904Blepharophimosis nasal groove growth retardationORPHA119411586605842
HP:0002071HP:0002548Parkinsonism with favorable response to dopaminergic medication2TMEM240 CL E G H33945398773ORPHA123725186616101
HP:0002071HP:0007158Progressive extrapyramidal muscular rigidity2TMEM240 CL E G H33945398773ORPHA123725186616101
HP:0002071HP:0002548Parkinsonism with favorable response to dopaminergic medication2TMEM240 CL E G H339453607454Spinocerebellar ataxia 21607454C1843891OMIM123725186616101
HP:0002071HP:0007158Progressive extrapyramidal muscular rigidity2TMEM240 CL E G H339453607454Spinocerebellar ataxia 21607454C1843891OMIM123725186616101
HP:0002071HP:0002548Parkinsonism with favorable response to dopaminergic medication2TREX1 CL E G H11277225750Aicardi Goutieres syndrome 1225750C0796126OMIM141812269606609
HP:0002071HP:0007158Progressive extrapyramidal muscular rigidity2TREX1 CL E G H11277225750Aicardi Goutieres syndrome 1225750C0796126OMIM141812269606609
HP:0002071HP:0002548Parkinsonism with favorable response to dopaminergic medication2UQCRQ CL E G H27089615159Mitochondrial complex III deficiency, nuclear type 4615159C3554607OMIM110229594612080
HP:0002071HP:0007158Progressive extrapyramidal muscular rigidity2UQCRQ CL E G H27089615159Mitochondrial complex III deficiency, nuclear type 4615159C3554607OMIM110229594612080
HP:0002071HP:0002548Parkinsonism with favorable response to dopaminergic medication2ZFYVE26 CL E G H23503100996ORPHA1240820761612012
HP:0002071HP:0007158Progressive extrapyramidal muscular rigidity2ZFYVE26 CL E G H23503100996ORPHA1240820761612012
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0ACD CL E G H65057618ORPHA0104925070609377
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0BAP1 CL E G H8314618ORPHA02425950603089
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0C9orf72 CL E G H203228275864ORPHA017728337614260
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0CDK4 CL E G H1019618ORPHA09301773123829
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0CDKN2A CL E G H1029618ORPHA013051787600160
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0CDKN2B CL E G H1030618ORPHA01261788600431
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0CDKN2D CL E G H1032618ORPHA0251790600927
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0CHMP2B CL E G H25978275864ORPHA016024537609512
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0DDB2 CL E G H1643910Blepharoptosis aortic anomalyORPHA01422718600811
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0ERCC2 CL E G H2068910Blepharoptosis aortic anomalyORPHA015723434126340
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0ERCC3 CL E G H2071910Blepharoptosis aortic anomalyORPHA05233435133510
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0ERCC4 CL E G H2072910Blepharoptosis aortic anomalyORPHA07263436133520
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0ERCC5 CL E G H2073910Blepharoptosis aortic anomalyORPHA04913437133530
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0GBE1 CL E G H2632206583ORPHA07844180607839
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0GRN CL E G H2896275864ORPHA05944601138945
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0LYST CL E G H1130352723ORPHA025751968606897
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0MAPT CL E G H4137275864ORPHA05816893157140
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0MC1R CL E G H4157618ORPHA05096929155555
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0MGMT CL E G H4255618ORPHA01197059156569
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0MICU1 CL E G H10367615673Myopathy with extrapyramidal signs615673C3810285OMIM02651530605084
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0MITF CL E G H4286618ORPHA05397105156845
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0NOTCH3 CL E G H4854136ORPHA013437883600276
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0POT1 CL E G H25913618ORPHA0176917284606478
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0PSEN1 CL E G H5663275864ORPHA05019508104311
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0SPG21 CL E G H51324101001ORPHA016220373608181
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0SQSTM1 CL E G H8878275864ORPHA067711280601530
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0TBC1D24 CL E G H57465352596ORPHA089329203613577
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0TERF2IP CL E G H54386618ORPHA066519246605061
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0TERT CL E G H7015618ORPHA0281011730187270
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0TMEM106B CL E G H54664275864ORPHA012822407613413
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0TREM2 CL E G H54209275864ORPHA015417761605086
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0VCP CL E G H7415275864ORPHA060712666601023
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0XPA CL E G H7507910Blepharoptosis aortic anomalyORPHA032112814611153
HP:0002071HP:0002071Abnormality of extrapyramidal motor function0XPC CL E G H7508910Blepharoptosis aortic anomalyORPHA078812816613208
HP:0002071HP:0011445Athetoid cerebral palsy1ACD CL E G H65057618ORPHA0104925070609377
HP:0002071HP:0001300Parkinsonism1ACD CL E G H65057618ORPHA0104925070609377
HP:0002071HP:0007308Extrapyramidal dyskinesia1ACD CL E G H65057618ORPHA0104925070609377
HP:0002071HP:0007076Extrapyramidal muscular rigidity1ACD CL E G H65057618ORPHA0104925070609377
HP:0002071HP:0002267Exaggerated startle response1ACD CL E G H65057618ORPHA0104925070609377
HP:0002071HP:0007153Progressive extrapyramidal movement disorder1ACD CL E G H65057618ORPHA0104925070609377
HP:0002071HP:0002067Bradykinesia1ACD CL E G H65057618ORPHA0104925070609377
HP:0002071HP:0002267Exaggerated startle response1BAP1 CL E G H8314618ORPHA02425950603089
HP:0002071HP:0007153Progressive extrapyramidal movement disorder1BAP1 CL E G H8314618ORPHA02425950603089
HP:0002071HP:0007076Extrapyramidal muscular rigidity1BAP1 CL E G H8314618ORPHA02425950603089
HP:0002071HP:0002067Bradykinesia1BAP1 CL E G H8314618ORPHA02425950603089
HP:0002071HP:0001300Parkinsonism1BAP1 CL E G H8314618ORPHA02425950603089
HP:0002071HP:0011445Athetoid cerebral palsy1BAP1 CL E G H8314618ORPHA02425950603089
HP:0002071HP:0007308Extrapyramidal dyskinesia1BAP1 CL E G H8314618ORPHA02425950603089
HP:0002071HP:0001300Parkinsonism1C9orf72 CL E G H203228275864ORPHA017728337614260
HP:0002071HP:0011445Athetoid cerebral palsy1C9orf72 CL E G H203228275864ORPHA017728337614260
HP:0002071HP:0007308Extrapyramidal dyskinesia1C9orf72 CL E G H203228275864ORPHA017728337614260
HP:0002071HP:0007153Progressive extrapyramidal movement disorder1C9orf72 CL E G H203228275864ORPHA017728337614260
HP:0002071HP:0007076Extrapyramidal muscular rigidity1C9orf72 CL E G H203228275864ORPHA017728337614260
HP:0002071HP:0002267Exaggerated startle response1C9orf72 CL E G H203228275864ORPHA017728337614260
HP:0002071HP:0002067Bradykinesia1C9orf72 CL E G H203228275864ORPHA017728337614260
HP:0002071HP:0011445Athetoid cerebral palsy1CDK4 CL E G H1019618ORPHA09301773123829
HP:0002071HP:0001300Parkinsonism1CDK4 CL E G H1019618ORPHA09301773123829
HP:0002071HP:0007308Extrapyramidal dyskinesia1CDK4 CL E G H1019618ORPHA09301773123829
HP:0002071HP:0007076Extrapyramidal muscular rigidity1CDK4 CL E G H1019618ORPHA09301773123829
HP:0002071HP:0002267Exaggerated startle response1CDK4 CL E G H1019618ORPHA09301773123829
HP:0002071HP:0007153Progressive extrapyramidal movement disorder1CDK4 CL E G H1019618ORPHA09301773123829
HP:0002071HP:0002067Bradykinesia1CDK4 CL E G H1019618ORPHA09301773123829
HP:0002071HP:0002267Exaggerated startle response1CDKN2A CL E G H1029618ORPHA013051787600160
HP:0002071HP:0007153Progressive extrapyramidal movement disorder1CDKN2A CL E G H1029618ORPHA013051787600160
HP:0002071HP:0007076Extrapyramidal muscular rigidity1CDKN2A CL E G H1029618ORPHA013051787600160
HP:0002071HP:0002067Bradykinesia1CDKN2A CL E G H1029618ORPHA013051787600160
HP:0002071HP:0011445Athetoid cerebral palsy1CDKN2A CL E G H1029618ORPHA013051787600160
HP:0002071HP:0001300Parkinsonism1CDKN2A CL E G H1029618ORPHA013051787600160
HP:0002071HP:0007308Extrapyramidal dyskinesia1CDKN2A CL E G H1029618ORPHA013051787600160
HP:0002071HP:0011445Athetoid cerebral palsy1CDKN2B CL E G H1030618ORPHA01261788600431
HP:0002071HP:0001300Parkinsonism1CDKN2B CL E G H1030618ORPHA01261788600431
HP:0002071HP:0007308Extrapyramidal dyskinesia1CDKN2B CL E G H1030618ORPHA01261788600431
HP:0002071HP:0007076Extrapyramidal muscular rigidity1CDKN2B CL E G H1030618ORPHA01261788600431
HP:0002071HP:0002267Exaggerated startle response1CDKN2B CL E G H1030618ORPHA01261788600431
HP:0002071HP:0007153Progressive extrapyramidal movement disorder1CDKN2B CL E G H1030618ORPHA01261788600431
HP:0002071HP:0002067Bradykinesia1CDKN2B CL E G H1030618ORPHA01261788600431
HP:0002071HP:0007076Extrapyramidal muscular rigidity1CDKN2D CL E G H1032618ORPHA0251790600927
HP:0002071HP:0002267Exaggerated startle response1CDKN2D CL E G H1032618ORPHA0251790600927
HP:0002071HP:0007153Progressive extrapyramidal movement disorder1CDKN2D CL E G H1032618ORPHA0251790600927
HP:0002071HP:0002067Bradykinesia1CDKN2D CL E G H1032618ORPHA0251790600927
HP:0002071HP:0011445Athetoid cerebral palsy1CDKN2D CL E G H1032618ORPHA0251790600927
HP:0002071HP:0001300Parkinsonism1CDKN2D CL E G H1032618ORPHA0251790600927
HP:0002071HP:0007308Extrapyramidal dyskinesia1CDKN2D CL E G H1032618ORPHA0251790600927
HP:0002071HP:0007076Extrapyramidal muscular rigidity1CHMP2B CL E G H25978275864ORPHA016024537609512
HP:0002071HP:0002267Exaggerated startle response1CHMP2B CL E G H25978275864ORPHA016024537609512
HP:0002071HP:0007153Progressive extrapyramidal movement disorder1CHMP2B CL E G H25978275864ORPHA016024537609512
HP:0002071HP:0002067Bradykinesia1CHMP2B CL E G H25978275864ORPHA016024537609512
HP:0002071HP:0011445Athetoid cerebral palsy1CHMP2B CL E G H25978275864ORPHA016024537609512
HP:0002071HP:0001300Parkinsonism1CHMP2B CL E G H25978275864ORPHA016024537609512
HP:0002071HP:0007308Extrapyramidal dyskinesia1CHMP2B CL E G H25978275864ORPHA016024537609512
HP:0002071HP:0007153Progressive extrapyramidal movement disorder1DDB2 CL E G H1643910Blepharoptosis aortic anomalyORPHA01422718600811
HP:0002071HP:0007076Extrapyramidal muscular rigidity1DDB2 CL E G H1643910Blepharoptosis aortic anomalyORPHA01422718600811
HP:0002071HP:0002267Exaggerated startle response1DDB2 CL E G H1643910Blepharoptosis aortic anomalyORPHA01422718600811
HP:0002071HP:0002067Bradykinesia1DDB2 CL E G H1643910Blepharoptosis aortic anomalyORPHA01422718600811
HP:0002071HP:0011445Athetoid cerebral palsy1DDB2 CL E G H1643910Blepharoptosis aortic anomalyORPHA01422718600811
HP:0002071HP:0001300Parkinsonism1DDB2 CL E G H1643910Blepharoptosis aortic anomalyORPHA01422718600811
HP:0002071HP:0007308Extrapyramidal dyskinesia1DDB2 CL E G H1643910Blepharoptosis aortic anomalyORPHA01422718600811
HP:0002071HP:0011445Athetoid cerebral palsy1ERCC2 CL E G H2068910Blepharoptosis aortic anomalyORPHA015723434126340
HP:0002071HP:0001300Parkinsonism1ERCC2 CL E G H2068910Blepharoptosis aortic anomalyORPHA015723434126340
HP:0002071HP:0007308Extrapyramidal dyskinesia1ERCC2 CL E G H2068910Blepharoptosis aortic anomalyORPHA015723434126340
HP:0002071HP:0007076Extrapyramidal muscular rigidity1ERCC2 CL E G H2068910Blepharoptosis aortic anomalyORPHA015723434126340
HP:0002071HP:0002267Exaggerated startle response1ERCC2 CL E G H2068910Blepharoptosis aortic anomalyORPHA015723434126340
HP:0002071HP:0007153Progressive extrapyramidal movement disorder1ERCC2 CL E G H2068910Blepharoptosis aortic anomalyORPHA015723434126340
HP:0002071HP:0002067Bradykinesia1ERCC2 CL E G H2068910Blepharoptosis aortic anomalyORPHA015723434126340
HP:0002071HP:0007153Progressive extrapyramidal movement disorder1ERCC3 CL E G H2071910Blepharoptosis aortic anomalyORPHA05233435133510
HP:0002071HP:0007076Extrapyramidal muscular rigidity1ERCC3 CL E G H2071910Blepharoptosis aortic anomalyORPHA05233435133510
HP:0002071HP:0002267Exaggerated startle response1ERCC3 CL E G H2071910Blepharoptosis aortic anomalyORPHA05233435133510
HP:0002071HP:0002067Bradykinesia1ERCC3 CL E G H2071910Blepharoptosis aortic anomalyORPHA05233435133510
HP:0002071HP:0001300Parkinsonism1ERCC3 CL E G H2071910Blepharoptosis aortic anomalyORPHA05233435133510
HP:0002071HP:0011445Athetoid cerebral palsy1ERCC3 CL E G H2071910Blepharoptosis aortic anomalyORPHA05233435133510
HP:0002071HP:0007308Extrapyramidal dyskinesia1ERCC3 CL E G H2071910Blepharoptosis aortic anomalyORPHA05233435133510
HP:0002071HP:0011445Athetoid cerebral palsy1ERCC4 CL E G H2072910Blepharoptosis aortic anomalyORPHA07263436133520
HP:0002071HP:0001300Parkinsonism1ERCC4 CL E G H2072910Blepharoptosis aortic anomalyORPHA07263436133520
HP:0002071HP:0007308Extrapyramidal dyskinesia1ERCC4 CL E G H2072910Blepharoptosis aortic anomalyORPHA07263436133520
HP:0002071HP:0007076Extrapyramidal muscular rigidity1ERCC4 CL E G H2072910Blepharoptosis aortic anomalyORPHA07263436133520
HP:0002071HP:0002267Exaggerated startle response1ERCC4 CL E G H2072910Blepharoptosis aortic anomalyORPHA07263436133520
HP:0002071HP:0007153Progressive extrapyramidal movement disorder1ERCC4 CL E G H2072910Blepharoptosis aortic anomalyORPHA07263436133520
HP:0002071HP:0002067Bradykinesia1ERCC4 CL E G H2072910Blepharoptosis aortic anomalyORPHA07263436133520
HP:0002071HP:0002267Exaggerated startle response1ERCC5 CL E G H2073910Blepharoptosis aortic anomalyORPHA04913437133530
HP:0002071HP:0007153Progressive extrapyramidal movement disorder1ERCC5 CL E G H2073910Blepharoptosis aortic anomalyORPHA04913437133530
HP:0002071HP:0007076Extrapyramidal muscular rigidity1ERCC5 CL E G H2073910Blepharoptosis aortic anomalyORPHA04913437133530
HP:0002071HP:0002067Bradykinesia1ERCC5 CL E G H2073910Blepharoptosis aortic anomalyORPHA04913437133530
HP:0002071HP:0001300Parkinsonism1ERCC5 CL E G H2073910Blepharoptosis aortic anomalyORPHA04913437133530
HP:0002071HP:0011445Athetoid cerebral palsy1ERCC5 CL E G H2073910Blepharoptosis aortic anomalyORPHA04913437133530
HP:0002071HP:0007308Extrapyramidal dyskinesia1ERCC5 CL E G H2073910Blepharoptosis aortic anomalyORPHA04913437133530
HP:0002071HP:0007076Extrapyramidal muscular rigidity1GBE1 CL E G H2632206583ORPHA07844180607839
HP:0002071HP:0002267Exaggerated startle response1GBE1 CL E G H2632206583ORPHA07844180607839
HP:0002071HP:0007153Progressive extrapyramidal movement disorder1GBE1 CL E G H2632206583ORPHA07844180607839
HP:0002071HP:0002067Bradykinesia1GBE1 CL E G H2632206583ORPHA07844180607839
HP:0002071HP:0011445Athetoid cerebral palsy1GBE1 CL E G H2632206583ORPHA07844180607839
HP:0002071HP:0001300Parkinsonism1GBE1 CL E G H2632206583ORPHA07844180607839
HP:0002071HP:0007308Extrapyramidal dyskinesia1GBE1 CL E G H2632206583ORPHA07844180607839
HP:0002071HP:0001300Parkinsonism1GRN CL E G H2896275864ORPHA05944601138945
HP:0002071HP:0011445Athetoid cerebral palsy1GRN CL E G H2896275864ORPHA05944601138945
HP:0002071HP:0007308Extrapyramidal dyskinesia1GRN CL E G H2896275864ORPHA05944601138945
HP:0002071HP:0007153Progressive extrapyramidal movement disorder1GRN CL E G H2896275864ORPHA05944601138945
HP:0002071HP:0007076Extrapyramidal muscular rigidity1GRN CL E G H2896275864ORPHA05944601138945
HP:0002071HP:0002267Exaggerated startle response1GRN CL E G H2896275864ORPHA05944601138945
HP:0002071HP:0002067Bradykinesia1GRN CL E G H2896275864ORPHA05944601138945
HP:0002071HP:0007153Progressive extrapyramidal movement disorder1LYST CL E G H1130352723ORPHA025751968606897
HP:0002071HP:0007076Extrapyramidal muscular rigidity1LYST CL E G H1130352723ORPHA025751968606897
HP:0002071HP:0002267Exaggerated startle response1LYST CL E G H1130352723ORPHA025751968606897
HP:0002071HP:0002067Bradykinesia1LYST CL E G H1130352723ORPHA025751968606897
HP:0002071HP:0001300Parkinsonism1LYST CL E G H1130352723ORPHA025751968606897
HP:0002071HP:0011445Athetoid cerebral palsy1LYST CL E G H1130352723ORPHA025751968606897
HP:0002071HP:0007308Extrapyramidal dyskinesia1LYST CL E G H1130352723ORPHA025751968606897
HP:0002071HP:0007076Extrapyramidal muscular rigidity1MAPT CL E G H4137275864ORPHA05816893157140
HP:0002071HP:0002267Exaggerated startle response1MAPT CL E G H4137275864ORPHA05816893157140
HP:0002071HP:0007153Progressive extrapyramidal movement disorder1MAPT CL E G H4137275864ORPHA05816893157140
HP:0002071HP:0002067Bradykinesia1MAPT CL E G H4137275864ORPHA05816893157140
HP:0002071HP:0011445Athetoid cerebral palsy1MAPT CL E G H4137275864ORPHA05816893157140
HP:0002071HP:0001300Parkinsonism1MAPT CL E G H4137275864ORPHA05816893157140
HP:0002071HP:0007308Extrapyramidal dyskinesia1MAPT CL E G H4137275864ORPHA05816893157140
HP:0002071HP:0011445Athetoid cerebral palsy1MC1R CL E G H4157618ORPHA05096929155555
HP:0002071HP:0001300Parkinsonism1MC1R CL E G H4157618ORPHA05096929155555
HP:0002071HP:0007308Extrapyramidal dyskinesia1MC1R CL E G H4157618ORPHA05096929155555
HP:0002071HP:0007153Progressive extrapyramidal movement disorder1MC1R CL E G H4157618ORPHA05096929155555
HP:0002071HP:0007076Extrapyramidal muscular rigidity1MC1R CL E G H4157618ORPHA05096929155555
HP:0002071HP:0002267Exaggerated startle response1MC1R CL E G H4157618ORPHA05096929155555
HP:0002071HP:0002067Bradykinesia1MC1R CL E G H4157618ORPHA05096929155555
HP:0002071HP:0007076Extrapyramidal muscular rigidity1MGMT CL E G H4255618ORPHA01197059156569
HP:0002071HP:0002267Exaggerated startle response1MGMT CL E G H4255618ORPHA01197059156569
HP:0002071HP:0007153Progressive extrapyramidal movement disorder1MGMT CL E G H4255618ORPHA01197059156569
HP:0002071HP:0002067Bradykinesia1MGMT CL E G H4255618ORPHA01197059156569
HP:0002071HP:0011445Athetoid cerebral palsy1MGMT CL E G H4255618ORPHA01197059156569
HP:0002071HP:0001300Parkinsonism1MGMT CL E G H4255618ORPHA01197059156569
HP:0002071HP:0007308Extrapyramidal dyskinesia1MGMT CL E G H4255618ORPHA01197059156569
HP:0002071HP:0011445Athetoid cerebral palsy1MICU1 CL E G H10367615673Myopathy with extrapyramidal signs615673C3810285OMIM02651530605084
HP:0002071HP:0001300Parkinsonism1MICU1 CL E G H10367615673Myopathy with extrapyramidal signs615673C3810285OMIM02651530605084
HP:0002071HP:0007308Extrapyramidal dyskinesia1MICU1 CL E G H10367615673Myopathy with extrapyramidal signs615673C3810285OMIM02651530605084
HP:0002071HP:0007076Extrapyramidal muscular rigidity1MICU1 CL E G H10367615673Myopathy with extrapyramidal signs615673C3810285OMIM02651530605084
HP:0002071HP:0002267Exaggerated startle response1MICU1 CL E G H10367615673Myopathy with extrapyramidal signs615673C3810285OMIM02651530605084
HP:0002071HP:0007153Progressive extrapyramidal movement disorder1MICU1 CL E G H10367615673Myopathy with extrapyramidal signs615673C3810285OMIM02651530605084
HP:0002071HP:0002067Bradykinesia1MICU1 CL E G H10367615673Myopathy with extrapyramidal signs615673C3810285OMIM02651530605084
HP:0002071HP:0011445Athetoid cerebral palsy1MITF CL E G H4286618ORPHA05397105156845
HP:0002071HP:0001300Parkinsonism1MITF CL E G H4286618ORPHA05397105156845
HP:0002071HP:0007308Extrapyramidal dyskinesia1MITF CL E G H4286618ORPHA05397105156845
HP:0002071HP:0007153Progressive extrapyramidal movement disorder1MITF CL E G H4286618ORPHA05397105156845
HP:0002071HP:0007076Extrapyramidal muscular rigidity1MITF CL E G H4286618ORPHA05397105156845
HP:0002071HP:0002267Exaggerated startle response1MITF CL E G H4286618ORPHA05397105156845
HP:0002071HP:0002067Bradykinesia1MITF CL E G H4286618ORPHA05397105156845
HP:0002071HP:0002267Exaggerated startle response1NOTCH3 CL E G H4854136ORPHA013437883600276
HP:0002071HP:0007153Progressive extrapyramidal movement disorder1NOTCH3 CL E G H4854136ORPHA013437883600276
HP:0002071HP:0007076Extrapyramidal muscular rigidity1NOTCH3 CL E G H4854136ORPHA013437883600276
HP:0002071HP:0002067Bradykinesia1NOTCH3 CL E G H4854136ORPHA013437883600276
HP:0002071HP:0001300Parkinsonism1NOTCH3 CL E G H4854136ORPHA013437883600276
HP:0002071HP:0011445Athetoid cerebral palsy1NOTCH3 CL E G H4854136ORPHA013437883600276
HP:0002071HP:0007308Extrapyramidal dyskinesia1NOTCH3 CL E G H4854136ORPHA013437883600276
HP:0002071HP:0007076Extrapyramidal muscular rigidity1POT1 CL E G H25913618ORPHA0176917284606478
HP:0002071HP:0002267Exaggerated startle response1POT1 CL E G H25913618ORPHA0176917284606478
HP:0002071HP:0007153Progressive extrapyramidal movement disorder1POT1 CL E G H25913618ORPHA0176917284606478
HP:0002071HP:0002067Bradykinesia1POT1 CL E G H25913618ORPHA0176917284606478
HP:0002071HP:0011445Athetoid cerebral palsy1POT1 CL E G H25913618ORPHA0176917284606478
HP:0002071HP:0001300Parkinsonism1POT1 CL E G H25913618ORPHA0176917284606478
HP:0002071HP:0007308Extrapyramidal dyskinesia1POT1 CL E G H25913618ORPHA0176917284606478
HP:0002071HP:0001300Parkinsonism1PSEN1 CL E G H5663275864ORPHA05019508104311
HP:0002071HP:0011445Athetoid cerebral palsy1PSEN1 CL E G H5663275864ORPHA05019508104311
HP:0002071HP:0007308Extrapyramidal dyskinesia1PSEN1 CL E G H5663275864ORPHA05019508104311
HP:0002071HP:0002267Exaggerated startle response1PSEN1 CL E G H5663275864ORPHA05019508104311
HP:0002071HP:0007153Progressive extrapyramidal movement disorder1PSEN1 CL E G H5663275864ORPHA05019508104311
HP:0002071HP:0007076Extrapyramidal muscular rigidity1PSEN1 CL E G H5663275864ORPHA05019508104311
HP:0002071HP:0002067Bradykinesia1PSEN1 CL E G H5663275864ORPHA05019508104311
HP:0002071HP:0011445Athetoid cerebral palsy1SPG21 CL E G H51324101001ORPHA016220373608181
HP:0002071HP:0001300Parkinsonism1SPG21 CL E G H51324101001ORPHA016220373608181
HP:0002071HP:0007308Extrapyramidal dyskinesia1SPG21 CL E G H51324101001ORPHA016220373608181
HP:0002071HP:0007153Progressive extrapyramidal movement disorder1SPG21 CL E G H51324101001ORPHA016220373608181
HP:0002071HP:0007076Extrapyramidal muscular rigidity1SPG21 CL E G H51324101001ORPHA016220373608181
HP:0002071HP:0002267Exaggerated startle response1SPG21 CL E G H51324101001ORPHA016220373608181
HP:0002071HP:0002067Bradykinesia1SPG21 CL E G H51324101001ORPHA016220373608181
HP:0002071HP:0007076Extrapyramidal muscular rigidity1SQSTM1 CL E G H8878275864ORPHA067711280601530
HP:0002071HP:0002267Exaggerated startle response1SQSTM1 CL E G H8878275864ORPHA067711280601530
HP:0002071HP:0007153Progressive extrapyramidal movement disorder1SQSTM1 CL E G H8878275864ORPHA067711280601530
HP:0002071HP:0002067Bradykinesia1SQSTM1 CL E G H8878275864ORPHA067711280601530
HP:0002071HP:0011445Athetoid cerebral palsy1SQSTM1 CL E G H8878275864ORPHA067711280601530
HP:0002071HP:0001300Parkinsonism1SQSTM1 CL E G H8878275864ORPHA067711280601530
HP:0002071HP:0007308Extrapyramidal dyskinesia1SQSTM1 CL E G H8878275864ORPHA067711280601530
HP:0002071HP:0011445Athetoid cerebral palsy1TBC1D24 CL E G H57465352596ORPHA089329203613577
HP:0002071HP:0001300Parkinsonism1TBC1D24 CL E G H57465352596ORPHA089329203613577
HP:0002071HP:0007308Extrapyramidal dyskinesia1TBC1D24 CL E G H57465352596ORPHA089329203613577
HP:0002071HP:0007076Extrapyramidal muscular rigidity1TBC1D24 CL E G H57465352596ORPHA089329203613577
HP:0002071HP:0002267Exaggerated startle response1TBC1D24 CL E G H57465352596ORPHA089329203613577
HP:0002071HP:0007153Progressive extrapyramidal movement disorder1TBC1D24 CL E G H57465352596ORPHA089329203613577
HP:0002071HP:0002067Bradykinesia1TBC1D24 CL E G H57465352596ORPHA089329203613577
HP:0002071HP:0001300Parkinsonism1TERF2IP CL E G H54386618ORPHA066519246605061
HP:0002071HP:0011445Athetoid cerebral palsy1TERF2IP CL E G H54386618ORPHA066519246605061
HP:0002071HP:0007308Extrapyramidal dyskinesia1TERF2IP CL E G H54386618ORPHA066519246605061
HP:0002071HP:0007153Progressive extrapyramidal movement disorder1TERF2IP CL E G H54386618ORPHA066519246605061
HP:0002071HP:0007076Extrapyramidal muscular rigidity1TERF2IP CL E G H54386618ORPHA066519246605061
HP:0002071HP:0002267Exaggerated startle response1TERF2IP CL E G H54386618ORPHA066519246605061
HP:0002071HP:0002067Bradykinesia1TERF2IP CL E G H54386618ORPHA066519246605061
HP:0002071HP:0007076Extrapyramidal muscular rigidity1TERT CL E G H7015618ORPHA0281011730187270
HP:0002071HP:0002267Exaggerated startle response1TERT CL E G H7015618ORPHA0281011730187270
HP:0002071HP:0007153Progressive extrapyramidal movement disorder1TERT CL E G H7015618ORPHA0281011730187270
HP:0002071HP:0002067Bradykinesia1TERT CL E G H7015618ORPHA0281011730187270
HP:0002071HP:0011445Athetoid cerebral palsy1TERT CL E G H7015618ORPHA0281011730187270
HP:0002071HP:0001300Parkinsonism1TERT CL E G H7015618ORPHA0281011730187270
HP:0002071HP:0007308Extrapyramidal dyskinesia1TERT CL E G H7015618ORPHA0281011730187270
HP:0002071HP:0011445Athetoid cerebral palsy1TMEM106B CL E G H54664275864ORPHA012822407613413
HP:0002071HP:0001300Parkinsonism1TMEM106B CL E G H54664275864ORPHA012822407613413
HP:0002071HP:0007308Extrapyramidal dyskinesia1TMEM106B CL E G H54664275864ORPHA012822407613413
HP:0002071HP:0002267Exaggerated startle response1TMEM106B CL E G H54664275864ORPHA012822407613413
HP:0002071HP:0007153Progressive extrapyramidal movement disorder1TMEM106B CL E G H54664275864ORPHA012822407613413
HP:0002071HP:0007076Extrapyramidal muscular rigidity1TMEM106B CL E G H54664275864ORPHA012822407613413
HP:0002071HP:0002067Bradykinesia1TMEM106B CL E G H54664275864ORPHA012822407613413
HP:0002071HP:0007076Extrapyramidal muscular rigidity1TREM2 CL E G H54209275864ORPHA015417761605086
HP:0002071HP:0002267Exaggerated startle response1TREM2 CL E G H54209275864ORPHA015417761605086
HP:0002071HP:0007153Progressive extrapyramidal movement disorder1TREM2 CL E G H54209275864ORPHA015417761605086
HP:0002071HP:0002067Bradykinesia1TREM2 CL E G H54209275864ORPHA015417761605086
HP:0002071HP:0011445Athetoid cerebral palsy1TREM2 CL E G H54209275864ORPHA015417761605086
HP:0002071HP:0001300Parkinsonism1TREM2 CL E G H54209275864ORPHA015417761605086
HP:0002071HP:0007308Extrapyramidal dyskinesia1TREM2 CL E G H54209275864ORPHA015417761605086
HP:0002071HP:0011445Athetoid cerebral palsy1VCP CL E G H7415275864ORPHA060712666601023
HP:0002071HP:0001300Parkinsonism1VCP CL E G H7415275864ORPHA060712666601023
HP:0002071HP:0007308Extrapyramidal dyskinesia1VCP CL E G H7415275864ORPHA060712666601023
HP:0002071HP:0002267Exaggerated startle response1VCP CL E G H7415275864ORPHA060712666601023
HP:0002071HP:0007153Progressive extrapyramidal movement disorder1VCP CL E G H7415275864ORPHA060712666601023
HP:0002071HP:0007076Extrapyramidal muscular rigidity1VCP CL E G H7415275864ORPHA060712666601023
HP:0002071HP:0002067Bradykinesia1VCP CL E G H7415275864ORPHA060712666601023
HP:0002071HP:0011445Athetoid cerebral palsy1XPA CL E G H7507910Blepharoptosis aortic anomalyORPHA032112814611153
HP:0002071HP:0001300Parkinsonism1XPA CL E G H7507910Blepharoptosis aortic anomalyORPHA032112814611153
HP:0002071HP:0007308Extrapyramidal dyskinesia1XPA CL E G H7507910Blepharoptosis aortic anomalyORPHA032112814611153
HP:0002071HP:0007076Extrapyramidal muscular rigidity1XPA CL E G H7507910Blepharoptosis aortic anomalyORPHA032112814611153
HP:0002071HP:0002267Exaggerated startle response1XPA CL E G H7507910Blepharoptosis aortic anomalyORPHA032112814611153
HP:0002071HP:0007153Progressive extrapyramidal movement disorder1XPA CL E G H7507910Blepharoptosis aortic anomalyORPHA032112814611153
HP:0002071HP:0002067Bradykinesia1XPA CL E G H7507910Blepharoptosis aortic anomalyORPHA032112814611153
HP:0002071HP:0002267Exaggerated startle response1XPC CL E G H7508910Blepharoptosis aortic anomalyORPHA078812816613208
HP:0002071HP:0007153Progressive extrapyramidal movement disorder1XPC CL E G H7508910Blepharoptosis aortic anomalyORPHA078812816613208
HP:0002071HP:0007076Extrapyramidal muscular rigidity1XPC CL E G H7508910Blepharoptosis aortic anomalyORPHA078812816613208
HP:0002071HP:0002067Bradykinesia1XPC CL E G H7508910Blepharoptosis aortic anomalyORPHA078812816613208
HP:0002071HP:0001300Parkinsonism1XPC CL E G H7508910Blepharoptosis aortic anomalyORPHA078812816613208
HP:0002071HP:0011445Athetoid cerebral palsy1XPC CL E G H7508910Blepharoptosis aortic anomalyORPHA078812816613208
HP:0002071HP:0007308Extrapyramidal dyskinesia1XPC CL E G H7508910Blepharoptosis aortic anomalyORPHA078812816613208
HP:0002071HP:0007158Progressive extrapyramidal muscular rigidity2ACD CL E G H65057618ORPHA0104925070609377
HP:0002071HP:0002548Parkinsonism with favorable response to dopaminergic medication2ACD CL E G H65057618ORPHA0104925070609377
HP:0002071HP:0002548Parkinsonism with favorable response to dopaminergic medication2BAP1 CL E G H8314618ORPHA02425950603089
HP:0002071HP:0007158Progressive extrapyramidal muscular rigidity2BAP1 CL E G H8314618ORPHA02425950603089
HP:0002071HP:0007158Progressive extrapyramidal muscular rigidity2C9orf72 CL E G H203228275864ORPHA017728337614260
HP:0002071HP:0002548Parkinsonism with favorable response to dopaminergic medication2C9orf72 CL E G H203228275864ORPHA017728337614260
HP:0002071HP:0007158Progressive extrapyramidal muscular rigidity2CDK4 CL E G H1019618ORPHA09301773123829
HP:0002071HP:0002548Parkinsonism with favorable response to dopaminergic medication2CDK4 CL E G H1019618ORPHA09301773123829
HP:0002071HP:0002548Parkinsonism with favorable response to dopaminergic medication2CDKN2A CL E G H1029618ORPHA013051787600160
HP:0002071HP:0007158Progressive extrapyramidal muscular rigidity2CDKN2A CL E G H1029618ORPHA013051787600160
HP:0002071HP:0007158Progressive extrapyramidal muscular rigidity2CDKN2B CL E G H1030618ORPHA01261788600431
HP:0002071HP:0002548Parkinsonism with favorable response to dopaminergic medication2CDKN2B CL E G H1030618ORPHA01261788600431
HP:0002071HP:0002548Parkinsonism with favorable response to dopaminergic medication2CDKN2D CL E G H1032618ORPHA0251790600927
HP:0002071HP:0007158Progressive extrapyramidal muscular rigidity2CDKN2D CL E G H1032618ORPHA0251790600927
HP:0002071HP:0002548Parkinsonism with favorable response to dopaminergic medication2CHMP2B CL E G H25978275864ORPHA016024537609512
HP:0002071HP:0007158Progressive extrapyramidal muscular rigidity2CHMP2B CL E G H25978275864ORPHA016024537609512
HP:0002071HP:0002548Parkinsonism with favorable response to dopaminergic medication2DDB2 CL E G H1643910Blepharoptosis aortic anomalyORPHA01422718600811
HP:0002071HP:0007158Progressive extrapyramidal muscular rigidity2DDB2 CL E G H1643910Blepharoptosis aortic anomalyORPHA01422718600811
HP:0002071HP:0007158Progressive extrapyramidal muscular rigidity2ERCC2 CL E G H2068910Blepharoptosis aortic anomalyORPHA015723434126340
HP:0002071HP:0002548Parkinsonism with favorable response to dopaminergic medication2ERCC2 CL E G H2068910Blepharoptosis aortic anomalyORPHA015723434126340
HP:0002071HP:0002548Parkinsonism with favorable response to dopaminergic medication2ERCC3 CL E G H2071910Blepharoptosis aortic anomalyORPHA05233435133510
HP:0002071HP:0007158Progressive extrapyramidal muscular rigidity2ERCC3 CL E G H2071910Blepharoptosis aortic anomalyORPHA05233435133510
HP:0002071HP:0007158Progressive extrapyramidal muscular rigidity2ERCC4 CL E G H2072910Blepharoptosis aortic anomalyORPHA07263436133520
HP:0002071HP:0002548Parkinsonism with favorable response to dopaminergic medication2ERCC4 CL E G H2072910Blepharoptosis aortic anomalyORPHA07263436133520
HP:0002071HP:0002548Parkinsonism with favorable response to dopaminergic medication2ERCC5 CL E G H2073910Blepharoptosis aortic anomalyORPHA04913437133530
HP:0002071HP:0007158Progressive extrapyramidal muscular rigidity2ERCC5 CL E G H2073910Blepharoptosis aortic anomalyORPHA04913437133530
HP:0002071HP:0002548Parkinsonism with favorable response to dopaminergic medication2GBE1 CL E G H2632206583ORPHA07844180607839
HP:0002071HP:0007158Progressive extrapyramidal muscular rigidity2GBE1 CL E G H2632206583ORPHA07844180607839
HP:0002071HP:0007158Progressive extrapyramidal muscular rigidity2GRN CL E G H2896275864ORPHA05944601138945
HP:0002071HP:0002548Parkinsonism with favorable response to dopaminergic medication2GRN CL E G H2896275864ORPHA05944601138945
HP:0002071HP:0002548Parkinsonism with favorable response to dopaminergic medication2LYST CL E G H1130352723ORPHA025751968606897
HP:0002071HP:0007158Progressive extrapyramidal muscular rigidity2LYST CL E G H1130352723ORPHA025751968606897
HP:0002071HP:0002548Parkinsonism with favorable response to dopaminergic medication2MAPT CL E G H4137275864ORPHA05816893157140
HP:0002071HP:0007158Progressive extrapyramidal muscular rigidity2MAPT CL E G H4137275864ORPHA05816893157140
HP:0002071HP:0007158Progressive extrapyramidal muscular rigidity2MC1R CL E G H4157618ORPHA05096929155555
HP:0002071HP:0002548Parkinsonism with favorable response to dopaminergic medication2MC1R CL E G H4157618ORPHA05096929155555
HP:0002071HP:0002548Parkinsonism with favorable response to dopaminergic medication2MGMT CL E G H4255618ORPHA01197059156569
HP:0002071HP:0007158Progressive extrapyramidal muscular rigidity2MGMT CL E G H4255618ORPHA01197059156569
HP:0002071HP:0007158Progressive extrapyramidal muscular rigidity2MICU1 CL E G H10367615673Myopathy with extrapyramidal signs615673C3810285OMIM02651530605084
HP:0002071HP:0002548Parkinsonism with favorable response to dopaminergic medication2MICU1 CL E G H10367615673Myopathy with extrapyramidal signs615673C3810285OMIM02651530605084
HP:0002071HP:0007158Progressive extrapyramidal muscular rigidity2MITF CL E G H4286618ORPHA05397105156845
HP:0002071HP:0002548Parkinsonism with favorable response to dopaminergic medication2MITF CL E G H4286618ORPHA05397105156845
HP:0002071HP:0002548Parkinsonism with favorable response to dopaminergic medication2NOTCH3 CL E G H4854136ORPHA013437883600276
HP:0002071HP:0007158Progressive extrapyramidal muscular rigidity2NOTCH3 CL E G H4854136ORPHA013437883600276
HP:0002071HP:0002548Parkinsonism with favorable response to dopaminergic medication2POT1 CL E G H25913618ORPHA0176917284606478
HP:0002071HP:0007158Progressive extrapyramidal muscular rigidity2POT1 CL E G H25913618ORPHA0176917284606478
HP:0002071HP:0007158Progressive extrapyramidal muscular rigidity2PSEN1 CL E G H5663275864ORPHA05019508104311
HP:0002071HP:0002548Parkinsonism with favorable response to dopaminergic medication2PSEN1 CL E G H5663275864ORPHA05019508104311
HP:0002071HP:0007158Progressive extrapyramidal muscular rigidity2SPG21 CL E G H51324101001ORPHA016220373608181
HP:0002071HP:0002548Parkinsonism with favorable response to dopaminergic medication2SPG21 CL E G H51324101001ORPHA016220373608181
HP:0002071HP:0002548Parkinsonism with favorable response to dopaminergic medication2SQSTM1 CL E G H8878275864ORPHA067711280601530
HP:0002071HP:0007158Progressive extrapyramidal muscular rigidity2SQSTM1 CL E G H8878275864ORPHA067711280601530
HP:0002071HP:0007158Progressive extrapyramidal muscular rigidity2TBC1D24 CL E G H57465352596ORPHA089329203613577
HP:0002071HP:0002548Parkinsonism with favorable response to dopaminergic medication2TBC1D24 CL E G H57465352596ORPHA089329203613577
HP:0002071HP:0007158Progressive extrapyramidal muscular rigidity2TERF2IP CL E G H54386618ORPHA066519246605061
HP:0002071HP:0002548Parkinsonism with favorable response to dopaminergic medication2TERF2IP CL E G H54386618ORPHA066519246605061
HP:0002071HP:0002548Parkinsonism with favorable response to dopaminergic medication2TERT CL E G H7015618ORPHA0281011730187270
HP:0002071HP:0007158Progressive extrapyramidal muscular rigidity2TERT CL E G H7015618ORPHA0281011730187270
HP:0002071HP:0007158Progressive extrapyramidal muscular rigidity2TMEM106B CL E G H54664275864ORPHA012822407613413
HP:0002071HP:0002548Parkinsonism with favorable response to dopaminergic medication2TMEM106B CL E G H54664275864ORPHA012822407613413
HP:0002071HP:0002548Parkinsonism with favorable response to dopaminergic medication2TREM2 CL E G H54209275864ORPHA015417761605086
HP:0002071HP:0007158Progressive extrapyramidal muscular rigidity2TREM2 CL E G H54209275864ORPHA015417761605086
HP:0002071HP:0007158Progressive extrapyramidal muscular rigidity2VCP CL E G H7415275864ORPHA060712666601023
HP:0002071HP:0002548Parkinsonism with favorable response to dopaminergic medication2VCP CL E G H7415275864ORPHA060712666601023
HP:0002071HP:0007158Progressive extrapyramidal muscular rigidity2XPA CL E G H7507910Blepharoptosis aortic anomalyORPHA032112814611153
HP:0002071HP:0002548Parkinsonism with favorable response to dopaminergic medication2XPA CL E G H7507910Blepharoptosis aortic anomalyORPHA032112814611153
HP:0002071HP:0002548Parkinsonism with favorable response to dopaminergic medication2XPC CL E G H7508910Blepharoptosis aortic anomalyORPHA078812816613208
HP:0002071HP:0007158Progressive extrapyramidal muscular rigidity2XPC CL E G H7508910Blepharoptosis aortic anomalyORPHA078812816613208


Genes (199) :ABCA7 ACD ACTA1 ADAR AFG3L2 ALG13 AP5Z1 APOE APP ARHGEF9 ASNS ATL1 ATP13A2 ATP1A3 ATP6AP2 ATXN1 ATXN10 ATXN2 ATXN3 ATXN7 ATXN8 ATXN8OS BAP1 BAZ1B BOLA3 C19ORF12 C9ORF72 CDK4 CDKN2A CDKN2B CDKN2D CHCHD10 CHCHD2 CHMP2B CLIP2 CLN3 CLN6 CLPB COASY COQ2 CP CSF1R CTC1 CTSF CYP27A1 DCAF17 DCTN1 DDB2 DHDDS DNAJC12 DNAJC13 DNAJC5 DNAJC6 DPYS EARS2 EIF4G1 ELN ERCC2 ERCC3 ERCC4 ERCC5 ETHE1 FBXO7 FKTN FLRT1 FMR1 FTL FUS GAMT GBA GBE1 GCDH GCH1 GIGYF2 GLRA1 GLRB GM2A GPHN GRN GTF2I GTF2IRD1 HEXA HPRT1 HTRA1 HTT IFIH1 JPH3 KBTBD13 KCNC3 KIF5A KLC2 KLHL41 L2HGDH LIMK1 LIPT1 LRRK2 LYST MAPT MC1R MECP2 MGMT MICU1 MITF MMACHC MYPN NAGA NDUFA1 NDUFAF5 NDUFS7 NEB NOTCH3 NR4A2 OPA3 PANK2 PARK7 PDE10A PDE8B PDGFB PDGFRB PINK1 PLA2G6 PLAA PLP1 PODXL POLG POLG2 POT1 PPP2R2B PRDX1 PRKAR1B PRKN PRKRA PRNP PSEN1 PSEN2 PTS RAB39B RARS RFC2 RNASEH2A RNASEH2B RNASEH2C RRM2B SAMHD1 SERAC1 SERPINI1 SLC18A2 SLC20A2 SLC25A4 SLC2A1 SLC30A10 SLC39A14 SLC6A3 SLC6A5 SLC6A9 SNCA SNCAIP SNCB SNORD118 SORL1 SPG21 SPR SQSTM1 SYNJ1 TAF1 TARDBP TBC1D24 TBK1 TBL2 TBP TERF2IP TERT TH TK2 TMEM106B TMEM240 TOMM40 TPM2 TPM3 TRAK1 TREM2 TREX1 TSEN2 TSEN54 TTC19 TWNK UBTF UQCRQ VCP VPS13A VPS13C VPS35 WDR45 WDR73 XPA XPC XPR1 ZFYVE26 ZNF592

Diseases (204) :618 300884 164400 603516 276241 276244 276238 164500 904 614299 275864 204300 616271 612199 615362 909 241080 910 51188 602473 260300 206583 25 300322 600142 79314 236792 616299 352723 615673 277400 79279 301020 618238 618224 136 258501 165300 99015 607822 616140 614739 604218 614561 101001 352596 615338 98773 607454 225750 615159 100996 1020 171439 51 101109 610246 306511 613647 104310 104300 300607 615574 100984 513436 314632 306674 606693 617225 71517 128235 363654 300423 300911 98755 98756 183090 109150 98760 289560 614298 100070 401901 275872 105550 615911 616710 204200 397725 615643 227510 98933 48818 221820 178509 168605 617836 617384 411602 162350 391411 615528 222748 614924 171695 253800 320406 93256 300623 157846 606159 612736 98808 128230 149400 614619 309246 272750 607485 272800 248111 143100 617435 98934 606438 98768 604187 609541 167 600274 260540 601104 300055 401768 168600 67036 216873 234200 606324 616922 228169 609161 213600 615483 615007 605909 199351 610217 612953 521426 617527 254886 254892 157640 258450 98762 604326 412066 600116 210571 612067 282166 157941 137440 123400 261640 13 311510 438114 352649 618049 71277 309854 613280 617013 238455 613135 614618 617301 127750 168601 605543 70594 615530 53351 98759 607136 101150 605407 618201 612389 277470 615157 609286 617672 329478 200150 616840 329284 300894 83472 616413 494541 314250
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is August 2021 release.