Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
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HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | ABCA7 CL E G H | 10347 | 37 | OMIM:608907 | Alzheimer disease 9, susceptibility to | HP:0040283 - Occasional | | | 3 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | ABCA7 CL E G H | 10347 | 37 | ORPHA:1020 | Early-onset autosomal dominant Alzheimer disease | | | | 3 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | ACAT1 CL E G H | 38 | 93 | ORPHA:134 | Beta-ketothiolase deficiency | | | | 91 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | ACD CL E G H | 65057 | 25070 | ORPHA:618 | Familial melanoma | HP:0040283 - Occasional | | | 11 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | ACTA1 CL E G H | 58 | 129 | ORPHA:171439 | Childhood-onset nemaline myopathy | | | | 96 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | ADAR CL E G H | 103 | 225 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040282 - Frequent | | | 116 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | ADGRV1 CL E G H | 84059 | 17416 | ORPHA:36387 | Generalized epilepsy with febrile seizures-plus | | | | 530 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | ADH1C CL E G H | 126 | 251 | OMIM:168600 | Parkinson disease, late-onset | | | | 4 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | AFG3L2 CL E G H | 10939 | 315 | OMIM:610246 | Spinocerebellar ataxia 28 | | | | 86 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | AFG3L2 CL E G H | 10939 | 315 | ORPHA:101109 | Spinocerebellar ataxia type 28 | | | | 86 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | ALG13 CL E G H | 79868 | 30881 | OMIM:300884 | Epileptic encephalopathy, early infantile, 36 | . | | | 96 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | ALS2 CL E G H | 57679 | 443 | ORPHA:300605 | Juvenile amyotrophic lateral sclerosis | | | | 114 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | AOPEP CL E G H | 84909 | 1361 | OMIM:619565 | DYSTONIA 31; DYT31 | | | | | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | AP5Z1 CL E G H | 9907 | 22197 | ORPHA:306511 | Autosomal recessive spastic paraplegia type 48 | | | | 165 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | AP5Z1 CL E G H | 9907 | 22197 | OMIM:613647 | Spastic paraplegia 48, autosomal recessive | | | | 165 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | APOE CL E G H | 348 | 613 | OMIM:104310 | Alzheimer disease 2 | | | | 39 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | APOE CL E G H | 348 | 613 | OMIM:607822 | Alzheimer disease 3 | . | | | 39 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | APP CL E G H | 351 | 620 | OMIM:104300 | Alzheimer disease | | | | 74 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | APP CL E G H | 351 | 620 | ORPHA:1020 | Early-onset autosomal dominant Alzheimer disease | | | | 74 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | ARHGEF9 CL E G H | 23229 | 14561 | OMIM:300607 | Epileptic encephalopathy, early infantile, 8 | | | | 45 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | ARHGEF9 CL E G H | 23229 | 14561 | ORPHA:163985 | Hyperekplexia-epilepsy syndrome | | | | 45 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | ASNS CL E G H | 440 | 753 | OMIM:615574 | Asparagine synthetase deficiency | | | | 17 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | ATL1 CL E G H | 51062 | 11231 | ORPHA:100984 | Autosomal dominant spastic paraplegia type 3 | | | | 71 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | ATN1 CL E G H | 1822 | 3033 | OMIM:125370 | Dentatorubral-Pallidoluysian atrophy naito-oyanagi disease haw river syndrome ataxia, chorea, seizures, and dementia | | | | 16 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | ATP13A2 CL E G H | 23400 | 30213 | ORPHA:314632 | ATP13A2-related juvenile neuronal ceroid lipofuscinosis | | | | 100 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | ATP13A2 CL E G H | 23400 | 30213 | ORPHA:513436 | Autosomal recessive spastic paraplegia type 78 | | | | 100 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | ATP13A2 CL E G H | 23400 | 30213 | OMIM:606693 | Kufor-Rakeb syndrome | | | | 100 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | ATP13A2 CL E G H | 23400 | 30213 | ORPHA:306674 | Kufor-Rakeb syndrome | | | | 100 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | ATP13A2 CL E G H | 23400 | 30213 | OMIM:617225 | SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE; SPG78 | | | | 100 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | ATP1A3 CL E G H | 478 | 801 | OMIM:601338 | Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss | | | | 150 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | ATP1A3 CL E G H | 478 | 801 | OMIM:128235 | Dystonia 12 | | | | 150 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | ATP1A3 CL E G H | 478 | 801 | ORPHA:71517 | Rapid-onset dystonia-parkinsonism | | | | 150 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | ATP5MK CL E G H | 84833 | 30889 | OMIM:618683 | MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 6; MC5DN6 | | | | | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | ATP6AP2 CL E G H | 10159 | 18305 | OMIM:300423 | MENTAL RETARDATION, X-LINKED, SYNDROMIC, HEDERA TYPE; MRXSH | | | | 36 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | ATP6AP2 CL E G H | 10159 | 18305 | OMIM:300911 | Parkinsonism with spasticity, X-linked | | | | 36 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | ATP6AP2 CL E G H | 10159 | 18305 | ORPHA:93952 | X-linked intellectual disability, Hedera type | | | | 36 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | ATP6AP2 CL E G H | 10159 | 18305 | ORPHA:363654 | X-linked parkinsonism-spasticity syndrome | | | | 36 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | ATP7B CL E G H | 540 | 870 | OMIM:277900 | Wilson disease | | | | 315 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | ATXN1 CL E G H | 6310 | 10548 | OMIM:164400 | Spinocerebellar ataxia 1 | . | | | 19 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | ATXN1 CL E G H | 6310 | 10548 | ORPHA:98755 | Spinocerebellar ataxia type 1 | | | | 19 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | ATXN10 CL E G H | 25814 | 10549 | OMIM:603516 | Spinocerebellar ataxia 10 | . | | | 9 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | ATXN2 CL E G H | 6311 | 10555 | OMIM:168600 | Parkinson disease, late-onset | | | | 11 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | ATXN2 CL E G H | 6311 | 10555 | OMIM:183090 | Spinocerebellar ataxia 2 | | | | 11 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | ATXN2 CL E G H | 6311 | 10555 | ORPHA:98756 | Spinocerebellar ataxia type 2 | | | | 11 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | ATXN3 CL E G H | 4287 | 7106 | OMIM:109150 | Machado-Joseph disease | . | | | 14 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | ATXN3 CL E G H | 4287 | 7106 | ORPHA:276238 | Machado-Joseph disease type 1 | HP:0040281 - Very frequent | | | 14 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | ATXN3 CL E G H | 4287 | 7106 | ORPHA:276241 | Machado-Joseph disease type 2 | HP:0040281 - Very frequent | | | 14 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | ATXN3 CL E G H | 4287 | 7106 | ORPHA:276244 | Machado-Joseph disease type 3 | HP:0040281 - Very frequent | | | 14 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | ATXN7 CL E G H | 6314 | 10560 | OMIM:164500 | Spinocerebellar ataxia 7 opca III opca with retinal degeneration opca with macular degeneration and external ophthalmoplegia autosomal dominant cerebellar ataxia, type II adca, type II | . | | | 8 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | ATXN8 CL E G H | 724066 | 32925 | ORPHA:98760 | Spinocerebellar ataxia type 8 | | | | 1 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | ATXN8OS CL E G H | 6315 | 10561 | OMIM:168600 | Parkinson disease, late-onset | | | | 1 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | ATXN8OS CL E G H | 6315 | 10561 | ORPHA:98760 | Spinocerebellar ataxia type 8 | | | | 1 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | BAP1 CL E G H | 8314 | 950 | ORPHA:618 | Familial melanoma | HP:0040283 - Occasional | | | 184 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | BAZ1B CL E G H | 9031 | 961 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | BCL7B CL E G H | 9275 | 1005 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | BOLA3 CL E G H | 388962 | 24415 | OMIM:614299 | Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia | . | | | 14 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | BUD23 CL E G H | 114049 | 16405 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | C19ORF12 CL E G H | 83636 | 25443 | ORPHA:289560 | Mitochondrial membrane protein-associated neurodegeneration | | | | 114 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | C19ORF12 CL E G H | 83636 | 25443 | OMIM:614298 | Neurodegeneration with brain iron accumulation 4 | . | | | 114 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | C9ORF72 CL E G H | 203228 | 28337 | OMIM:105550 | Amyotrophic lateral sclerosis and/or frontotemporal dementia 1 | | | | 56 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | C9ORF72 CL E G H | 203228 | 28337 | ORPHA:275864 | Behavioral variant of frontotemporal dementia | HP:0040283 - Occasional | | | 56 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | C9ORF72 CL E G H | 203228 | 28337 | ORPHA:275872 | Frontotemporal dementia with motor neuron disease | HP:0040282 - Frequent | | | 56 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | C9ORF72 CL E G H | 203228 | 28337 | ORPHA:401901 | Huntington disease-like syndrome due to C9ORF72 expansions | | | | 56 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | C9ORF72 CL E G H | 203228 | 28337 | ORPHA:100070 | Progressive non-fluent aphasia | HP:0040283 - Occasional | | | 56 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | CAMK2B CL E G H | 816 | 1461 | OMIM:617799 | Mental retardation, autosomal dominant 54 | | | | | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | CAT CL E G H | 847 | 1516 | ORPHA:926 | Acatalasemia | | | | 5 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | CDK4 CL E G H | 1019 | 1773 | ORPHA:618 | Familial melanoma | HP:0040283 - Occasional | | | 145 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | CDKN2A CL E G H | 1029 | 1787 | ORPHA:618 | Familial melanoma | HP:0040283 - Occasional | | | 289 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | CDKN2B CL E G H | 1030 | 1788 | ORPHA:618 | Familial melanoma | HP:0040283 - Occasional | | | 1 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | CHCHD10 CL E G H | 400916 | 15559 | OMIM:615911 | Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 | | | | 11 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | CHCHD10 CL E G H | 400916 | 15559 | ORPHA:275872 | Frontotemporal dementia with motor neuron disease | HP:0040282 - Frequent | | | 11 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | CHCHD2 CL E G H | 51142 | 21645 | OMIM:616710 | Parkinson disease 22, autosomal dominant | | | | 3 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | CHMP2B CL E G H | 25978 | 24537 | ORPHA:275864 | Behavioral variant of frontotemporal dementia | HP:0040283 - Occasional | | | 42 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | CHMP2B CL E G H | 25978 | 24537 | ORPHA:100070 | Progressive non-fluent aphasia | HP:0040283 - Occasional | | | 42 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | CLIP2 CL E G H | 7461 | 2586 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | CLN3 CL E G H | 1201 | 2074 | OMIM:204200 | Ceroid lipofuscinosis, neuronal, 3 | . | | | 216 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | CLN3 CL E G H | 1201 | 2074 | ORPHA:228346 | CLN3 disease | | | | 216 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | CLN6 CL E G H | 54982 | 2077 | OMIM:204300 | Ceroid lipofuscinosis, neuronal, 4A, autosomal recessive | . | | | 143 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | CLPB CL E G H | 81570 | 30664 | ORPHA:445038 | 3-methylglutaconic aciduria type 7 | HP:0040282 - Frequent | | | 38 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | CLTC CL E G H | 1213 | 2092 | OMIM:617854 | Mental retardation, autosomal dominant 56 | | | | 1 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | COASY CL E G H | 80347 | 29932 | ORPHA:397725 | COASY protein-associated neurodegeneration | | | | 16 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | COASY CL E G H | 80347 | 29932 | OMIM:615643 | Neurodegeneration with brain iron accumulation 6 | | | | 16 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | COQ2 CL E G H | 27235 | 25223 | OMIM:146500 | Multiple system atrophy 1, susceptibility to | | | | 54 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | COQ2 CL E G H | 27235 | 25223 | ORPHA:227510 | Multiple system atrophy, cerebellar type | | | | 54 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | COQ2 CL E G H | 27235 | 25223 | ORPHA:98933 | Multiple system atrophy, parkinsonian type | | | | 54 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | CP CL E G H | 1356 | 2295 | ORPHA:48818 | Aceruloplasminemia | | | | 115 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | CP CL E G H | 1356 | 2295 | OMIM:604290 | ACERULOPLASMINEMIA | . | | | 115 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | CSF1R CL E G H | 1436 | 2433 | OMIM:221820 | Leukoencephalopathy, diffuse hereditary, with spheroids | | | | 149 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | CTC1 CL E G H | 80169 | 26169 | OMIM:612199 | Cerebroretinal microangiopathy with calcifications and cysts | . | | | 160 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | CTSF CL E G H | 8722 | 2531 | OMIM:615362 | Ceroid lipofuscinosis, neuronal, 13 | . | | | 20 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | CYP27A1 CL E G H | 1593 | 2605 | ORPHA:909 | Cerebrotendinous xanthomatosis | HP:0040282 - Frequent | | | 114 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | DCAF17 CL E G H | 80067 | 25784 | OMIM:241080 | Woodhouse-Sakati syndrome | . | | | 87 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | DCTN1 CL E G H | 1639 | 2711 | ORPHA:178509 | Perry syndrome | HP:0040281 - Very frequent | | | 86 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | DCTN1 CL E G H | 1639 | 2711 | OMIM:168605 | Perry syndrome | | | | 86 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | DDB2 CL E G H | 1643 | 2718 | ORPHA:910 | Xeroderma pigmentosum | HP:0040283 - Occasional | | | 30 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | DDC CL E G H | 1644 | 2719 | OMIM:608643 | Aromatic L-amino acid decarboxylase deficiency | | | | 43 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | DHDDS CL E G H | 79947 | 20603 | OMIM:617836 | Developmental delay and seizures with or without movement abnormalities | | | | 47 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | DNAJC12 CL E G H | 56521 | 28908 | OMIM:617384 | Hyperphenylalaninemia, MILD, non-bh4-deficient | | | | 3 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | DNAJC13 CL E G H | 23317 | 30343 | ORPHA:411602 | Hereditary late-onset Parkinson disease | | | | 2 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | DNAJC30 CL E G H | 84277 | 16410 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | DNAJC5 CL E G H | 80331 | 16235 | OMIM:162350 | Ceroid lipofuscinosis, neuronal, 4B, autosomal dominant | . | | | 155 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | DNAJC6 CL E G H | 9829 | 15469 | ORPHA:391411 | Atypical juvenile parkinsonism | | | | 6 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | DNAJC6 CL E G H | 9829 | 15469 | OMIM:615528 | Parkinson disease 19a, juvenile-onset | | | | 6 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | DNAJC6 CL E G H | 9829 | 15469 | ORPHA:2828 | Young-onset Parkinson disease | | | | 6 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | DPYS CL E G H | 1807 | 3013 | OMIM:222748 | Dihydropyrimidinuria | | | | 44 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | EARS2 CL E G H | 124454 | 29419 | OMIM:614924 | Combined oxidative phosphorylation deficiency 12 | | | | 80 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | EIF2AK1 CL E G H | 27102 | 24921 | OMIM:618878 | LEUKOENCEPHALOPATHY, MOTOR DELAY, SPASTICITY, AND DYSARTHRIA SYNDROME; LEMSPAD | | | | | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | EIF2AK2 CL E G H | 5610 | 9437 | OMIM:618877 | LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME; LEUDEN | | | | | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | EIF4G1 CL E G H | 1981 | 3296 | ORPHA:411602 | Hereditary late-onset Parkinson disease | | | | 2 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | EIF4G1 CL E G H | 1981 | 3296 | OMIM:614251 | Parkinson disease 18 | | | | 2 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | EIF4H CL E G H | 7458 | 12741 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | ELN CL E G H | 2006 | 3327 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | 172 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | ERCC2 CL E G H | 2068 | 3434 | ORPHA:910 | Xeroderma pigmentosum | HP:0040283 - Occasional | | | 106 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | ERCC3 CL E G H | 2071 | 3435 | ORPHA:910 | Xeroderma pigmentosum | HP:0040283 - Occasional | | | 54 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | ERCC4 CL E G H | 2072 | 3436 | ORPHA:910 | Xeroderma pigmentosum | HP:0040283 - Occasional | | | 158 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | ERCC5 CL E G H | 2073 | 3437 | ORPHA:910 | Xeroderma pigmentosum | HP:0040283 - Occasional | | | 83 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | ETHE1 CL E G H | 23474 | 23287 | OMIM:602473 | Encephalopathy, ethylmalonic | . | | | 42 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | ETHE1 CL E G H | 23474 | 23287 | ORPHA:51188 | Ethylmalonic encephalopathy | HP:0040282 - Frequent | | | 42 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | FA2H CL E G H | 79152 | 21197 | ORPHA:329308 | Fatty acid hydroxylase-associated neurodegeneration | | | | 76 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | FARS2 CL E G H | 10667 | 21062 | ORPHA:466722 | Autosomal recessive spastic paraplegia type 77 | | | | 36 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | FBXO7 CL E G H | 25793 | 13586 | OMIM:260300 | Parkinson disease 15, autosomal recessive early-onset | . | | | 36 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | FBXO7 CL E G H | 25793 | 13586 | ORPHA:171695 | Parkinsonian-pyramidal syndrome | | | | 36 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | FKBP6 CL E G H | 8468 | 3722 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | FKTN CL E G H | 2218 | 3622 | OMIM:253800 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4 | | | | 184 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | FLRT1 CL E G H | 23769 | 3760 | ORPHA:320406 | Spastic paraplegia-optic atrophy-neuropathy syndrome | HP:0040283 - Occasional | | | | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | FMR1 CL E G H | 2332 | 3775 | OMIM:300623 | Fragile X tremor/ataxia syndrome | | | | 30 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | FMR1 CL E G H | 2332 | 3775 | ORPHA:93256 | Fragile X-associated tremor/ataxia syndrome | | | | 30 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | FTL CL E G H | 2512 | 3999 | OMIM:606159 | Neurodegeneration with brain iron accumulation 3 | | | | 33 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | FTL CL E G H | 2512 | 3999 | ORPHA:157846 | Neuroferritinopathy | | | | 33 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | FUS CL E G H | 2521 | 4010 | ORPHA:275872 | Frontotemporal dementia with motor neuron disease | HP:0040282 - Frequent | | | 105 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | FUS CL E G H | 2521 | 4010 | ORPHA:300605 | Juvenile amyotrophic lateral sclerosis | | | | 105 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | GABRA1 CL E G H | 2554 | 4075 | ORPHA:33069 | Dravet syndrome | | | | 134 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | GABRD CL E G H | 2563 | 4084 | ORPHA:36387 | Generalized epilepsy with febrile seizures-plus | | | | 10 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | GABRG2 CL E G H | 2566 | 4087 | ORPHA:33069 | Dravet syndrome | | | | 139 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | GABRG2 CL E G H | 2566 | 4087 | ORPHA:36387 | Generalized epilepsy with febrile seizures-plus | | | | 139 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | GAMT CL E G H | 2593 | 4136 | OMIM:612736 | Cerebral creatine deficiency syndrome 2 | | | | 91 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | GAMT CL E G H | 2593 | 4136 | ORPHA:382 | Guanidinoacetate methyltransferase deficiency | HP:0040282 - Frequent | | | 91 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | GBA1 CL E G H | 2629 | 4177 | OMIM:127750 | Dementia, lewy body | | | | | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | GBA1 CL E G H | 2629 | 4177 | ORPHA:411602 | Hereditary late-onset Parkinson disease | | | | | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | GBA1 CL E G H | 2629 | 4177 | OMIM:168600 | Parkinson disease, late-onset | | | | | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | GBE1 CL E G H | 2632 | 4180 | ORPHA:206583 | Adult polyglucosan body disease | HP:0040283 - Occasional | | | 86 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | GCH1 CL E G H | 2643 | 4193 | ORPHA:98808 | Autosomal dominant dopa-responsive dystonia | HP:0040282 - Frequent | | | 86 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | GCH1 CL E G H | 2643 | 4193 | OMIM:128230 | Dystonia, DOPA-responsive, with or without hyperphenylalaninemia | | | | 86 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | GIGYF2 CL E G H | 26058 | 11960 | ORPHA:411602 | Hereditary late-onset Parkinson disease | | | | 8 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | GIGYF2 CL E G H | 26058 | 11960 | OMIM:607688 | PARKINSON DISEASE 11, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO; PARK11 | | | | 8 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | GLB1 CL E G H | 2720 | 4298 | ORPHA:79255 | GM1 gangliosidosis type 1 | . | | | 120 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | GLRA1 CL E G H | 2741 | 4326 | OMIM:149400 | Hyperekplexia 1 | | | | 63 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | GLRB CL E G H | 2743 | 4329 | OMIM:614619 | Hyperekplexia 2 | | | | 46 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | GLUD2 CL E G H | 2747 | 4336 | OMIM:168600 | Parkinson disease, late-onset | | | | 1 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | GM2A CL E G H | 2760 | 4367 | ORPHA:309246 | GM2 gangliosidosis, AB variant | | | | 69 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | GM2A CL E G H | 2760 | 4367 | OMIM:272750 | Gm2-Gangliosidosis, ab variant | | | | 69 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | GPHN CL E G H | 10243 | 15465 | OMIM:149400 | Hyperekplexia 1 | | | | 18 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | GRN CL E G H | 2896 | 4601 | ORPHA:275864 | Behavioral variant of frontotemporal dementia | HP:0040283 - Occasional | | | 126 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | GRN CL E G H | 2896 | 4601 | OMIM:607485 | Frontotemporal lobar degeneration with TDP43 inclusions | | | | 126 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | GRN CL E G H | 2896 | 4601 | ORPHA:100070 | Progressive non-fluent aphasia | HP:0040283 - Occasional | | | 126 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | GTF2I CL E G H | 2969 | 4659 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | GTF2IRD1 CL E G H | 9569 | 4661 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | GTF2IRD2 CL E G H | 84163 | 30775 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | HCN1 CL E G H | 348980 | 4845 | ORPHA:36387 | Generalized epilepsy with febrile seizures-plus | | | | 54 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | HEXB CL E G H | 3074 | 4879 | OMIM:268800 | Sandhoff disease | | | | 80 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | HEXB CL E G H | 3074 | 4879 | ORPHA:309155 | Sandhoff disease, infantile form | | | | 80 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | HEXB CL E G H | 3074 | 4879 | ORPHA:309162 | Sandhoff disease, juvenile form | | | | 80 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | HFE CL E G H | 3077 | 4886 | OMIM:104300 | Alzheimer disease | | | | 38 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | HLA-DQB1 CL E G H | 3119 | 4944 | OMIM:123400 | Creutzfeldt-Jakob disease | | | | | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | HPRT1 CL E G H | 3251 | 5157 | ORPHA:79233 | Hypoxanthine guanine phosphoribosyltransferase partial deficiency | HP:0040283 - Occasional | | | 76 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | HPRT1 CL E G H | 3251 | 5157 | OMIM:300322 | Lesch-Nyhan syndrome | . | | | 76 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | HTRA1 CL E G H | 5654 | 9476 | OMIM:600142 | Autosomal recessive cerebral arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL) | . | | | 34 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | HTRA2 CL E G H | 27429 | 14348 | OMIM:610297 | PARKINSON DISEASE 13, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO; PARK13 | | | | 39 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | HTRA2 CL E G H | 27429 | 14348 | ORPHA:2828 | Young-onset Parkinson disease | | | | 39 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | HTT CL E G H | 3064 | 4851 | OMIM:143100 | Huntington disease | | | | 12 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | HTT CL E G H | 3064 | 4851 | ORPHA:399 | Huntington disease | | | | 12 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | HTT CL E G H | 3064 | 4851 | ORPHA:248111 | Juvenile Huntington disease | | | | 12 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | HTT CL E G H | 3064 | 4851 | OMIM:617435 | Lopes-Maciel-Rodan syndrome | | | | 12 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | IFIH1 CL E G H | 64135 | 18873 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040282 - Frequent | | | 28 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | IMPDH2 CL E G H | 3615 | 6053 | ORPHA:98808 | Autosomal dominant dopa-responsive dystonia | HP:0040282 - Frequent | | | 1 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | JAM2 CL E G H | 58494 | 14686 | OMIM:618824 | BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 8, AUTOSOMAL RECESSIVE; IBGC8 | | | | | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | JPH3 CL E G H | 57338 | 14203 | ORPHA:98934 | Huntington disease-like 2 | | | | 2 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | JPH3 CL E G H | 57338 | 14203 | OMIM:606438 | Huntington disease-like 2 | | | | 2 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | KBTBD13 CL E G H | 390594 | 37227 | ORPHA:171439 | Childhood-onset nemaline myopathy | | | | 80 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | KCNC3 CL E G H | 3748 | 6235 | ORPHA:98768 | Spinocerebellar ataxia type 13 | | | | 17 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | KCNN2 CL E G H | 3781 | 6291 | OMIM:619725 | NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE MOVEMENT OR BEHAVIORAL ABNORMALITIES; NEDMAB | | | | | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | KIF5A CL E G H | 3798 | 6323 | ORPHA:100991 | Autosomal dominant spastic paraplegia type 10 | | | | 93 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | KIF5A CL E G H | 3798 | 6323 | OMIM:604187 | Spastic paraplegia 10, autosomal dominant | | | | 93 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | KLC2 CL E G H | 64837 | 20716 | OMIM:609541 | Spastic paraplegia, optic atrophy, and neuropathy | | | | 1 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | KLC2 CL E G H | 64837 | 20716 | ORPHA:320406 | Spastic paraplegia-optic atrophy-neuropathy syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | KLHL41 CL E G H | 10324 | 16905 | ORPHA:171439 | Childhood-onset nemaline myopathy | | | | 13 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | L2HGDH CL E G H | 79944 | 20499 | OMIM:236792 | L-2-Hydroxyglutaric aciduria | . | | | 34 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | L2HGDH CL E G H | 79944 | 20499 | ORPHA:79314 | L-2-hydroxyglutaric aciduria | HP:0040282 - Frequent | | | 34 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | LIMK1 CL E G H | 3984 | 6613 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | LIPT1 CL E G H | 51601 | 29569 | OMIM:616299 | Lipoyltransferase 1 deficiency | . | | | 21 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | LRRK2 CL E G H | 120892 | 18618 | ORPHA:411602 | Hereditary late-onset Parkinson disease | | | | 221 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | LRRK2 CL E G H | 120892 | 18618 | OMIM:607060 | Parkinson disease 8, autosomal dominant | | | | 221 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | LRRK2 CL E G H | 120892 | 18618 | ORPHA:2828 | Young-onset Parkinson disease | | | | 221 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | LSM11 CL E G H | 134353 | 30860 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040282 - Frequent | | | | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | LYST CL E G H | 1130 | 1968 | ORPHA:352723 | Attenuated Chédiak-Higashi syndrome | HP:0040283 - Occasional | | | 239 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | LYST CL E G H | 1130 | 1968 | ORPHA:167 | Chédiak-Higashi syndrome | | | | 239 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | MAPT CL E G H | 4137 | 6893 | ORPHA:275864 | Behavioral variant of frontotemporal dementia | HP:0040283 - Occasional | | | 140 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | MAPT CL E G H | 4137 | 6893 | ORPHA:240071 | Classic progressive supranuclear palsy syndrome | | | | 140 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | MAPT CL E G H | 4137 | 6893 | OMIM:600274 | Frontotemporal dementia | | | | 140 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | MAPT CL E G H | 4137 | 6893 | OMIM:168600 | Parkinson disease, late-onset | | | | 140 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | MAPT CL E G H | 4137 | 6893 | ORPHA:100070 | Progressive non-fluent aphasia | HP:0040283 - Occasional | | | 140 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | MAPT CL E G H | 4137 | 6893 | ORPHA:240103 | Progressive supranuclear palsy-corticobasal syndrome | | | | 140 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | MAPT CL E G H | 4137 | 6893 | ORPHA:240085 | Progressive supranuclear palsy-parkinsonism syndrome | | | | 140 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | MAPT CL E G H | 4137 | 6893 | ORPHA:240112 | Progressive supranuclear palsy-progressive non-fluent aphasia syndrome | | | | 140 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | MAPT CL E G H | 4137 | 6893 | OMIM:260540 | Supranuclear palsy, progressive atypical | | | | 140 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | MAPT CL E G H | 4137 | 6893 | OMIM:601104 | Supranuclear palsy, progressive, 1 | | | | 140 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | MC1R CL E G H | 4157 | 6929 | ORPHA:618 | Familial melanoma | HP:0040283 - Occasional | | | 124 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | MECP2 CL E G H | 4204 | 6990 | OMIM:300055 | Mental retardation, X-linked, syndromic 13 | | | | 950 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | MECP2 CL E G H | 4204 | 6990 | ORPHA:778 | Rett syndrome | | | | 950 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | MECP2 CL E G H | 4204 | 6990 | ORPHA:3077 | X-linked intellectual disability-psychosis-macroorchidism syndrome | | | | 950 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | METTL27 CL E G H | 155368 | 19068 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | MGMT CL E G H | 4255 | 7059 | ORPHA:618 | Familial melanoma | HP:0040283 - Occasional | | | 3 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | MICU1 CL E G H | 10367 | 1530 | OMIM:615673 | Myopathy with extrapyramidal signs | | | | 14 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | MICU1 CL E G H | 10367 | 1530 | ORPHA:401768 | Proximal myopathy with extrapyramidal signs | | | | 14 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | MINPP1 CL E G H | 9562 | 7102 | OMIM:619527 | PONTOCEREBELLAR HYPOPLASIA, TYPE 16; PCH16 | | | | 3 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | MITF CL E G H | 4286 | 7105 | ORPHA:618 | Familial melanoma | HP:0040283 - Occasional | | | 91 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | MLXIPL CL E G H | 51085 | 12744 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | MMACHC CL E G H | 25974 | 24525 | OMIM:277400 | Methylmalonic aciduria and homocystinuria, Cblc type | . | | | 101 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | MPO CL E G H | 4353 | 7218 | OMIM:104300 | Alzheimer disease | | | | 11 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | MTHFS CL E G H | 10588 | 7437 | OMIM:618367 | Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination | | | | | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | MYORG CL E G H | 57462 | 19918 | OMIM:618317 | Basal ganglia calcification, idiopathic, 7, autosomal recessive | | | | | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | MYPN CL E G H | 84665 | 23246 | ORPHA:171439 | Childhood-onset nemaline myopathy | | | | 217 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | NAGA CL E G H | 4668 | 7631 | ORPHA:79279 | Alpha-N-acetylgalactosaminidase deficiency type 1 | HP:0040282 - Frequent | | | 47 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | NCF1 CL E G H | 653361 | 7660 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | 13 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | NDUFA1 CL E G H | 4694 | 7683 | OMIM:301020 | Mitochondrial complex I deficiency, nuclear type 12 | . | | | 7 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | NDUFS7 CL E G H | 374291 | 7714 | OMIM:618224 | Mitochondrial complex I deficiency, nuclear type 3 | . | | | 38 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | NEB CL E G H | 4703 | 7720 | ORPHA:171439 | Childhood-onset nemaline myopathy | | | | 745 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | NFU1 CL E G H | 27247 | 16287 | OMIM:605711 | Multiple mitochondrial dysfunctions syndrome 1 | | | | 34 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | NOS3 CL E G H | 4846 | 7876 | OMIM:104300 | Alzheimer disease | | | | 8 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | NOTCH3 CL E G H | 4854 | 7883 | ORPHA:136 | Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy | | | | 144 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | NR4A2 CL E G H | 4929 | 7981 | OMIM:619911 | | | | | 27 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | NR4A2 CL E G H | 4929 | 7981 | ORPHA:98808 | Autosomal dominant dopa-responsive dystonia | HP:0040282 - Frequent | | | 27 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | NR4A2 CL E G H | 4929 | 7981 | OMIM:168600 | Parkinson disease, late-onset | | | | 27 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | OPA3 CL E G H | 80207 | 8142 | OMIM:258501 | 3-methylglutaconic aciduria, type III | | | | 163 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | OPA3 CL E G H | 80207 | 8142 | ORPHA:67036 | Autosomal dominant optic atrophy and cataract | | | | 163 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | OPA3 CL E G H | 80207 | 8142 | OMIM:165300 | OPTIC ATROPHY 3, AUTOSOMAL DOMINANT; OPA3 | | | | 163 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | PANK2 CL E G H | 80025 | 15894 | ORPHA:216873 | Atypical pantothenate kinase-associated neurodegeneration | | | | 55 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | PANK2 CL E G H | 80025 | 15894 | OMIM:234200 | Neurodegeneration with brain iron accumulation 1 | . | | | 55 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | PARK7 CL E G H | 11315 | 16369 | OMIM:606324 | PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET; PARK7 | | | | 23 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | PARK7 CL E G H | 11315 | 16369 | ORPHA:2828 | Young-onset Parkinson disease | | | | 23 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | PCBD1 CL E G H | 5092 | 8646 | ORPHA:1578 | Pterin-4 alpha-carbinolamine dehydratase deficiency | | | | 24 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | PCDH19 CL E G H | 57526 | 14270 | ORPHA:33069 | Dravet syndrome | | | | 225 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | PDE10A CL E G H | 10846 | 8772 | ORPHA:494541 | Childhood-onset benign chorea with striatal involvement | | | | 5 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | PDE10A CL E G H | 10846 | 8772 | OMIM:616922 | Striatal degeneration, autosomal dominant 2 | | | | 5 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | PDE8B CL E G H | 8622 | 8794 | ORPHA:228169 | Autosomal dominant striatal neurodegeneration | | | | 75 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | PDE8B CL E G H | 8622 | 8794 | OMIM:609161 | Striatal degeneration, autosomal dominant | | | | 75 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | PDGFB CL E G H | 5155 | 8800 | OMIM:213600 | Basal ganglia calcification, idiopathic, 1 | | | | 9 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | PDGFB CL E G H | 5155 | 8800 | OMIM:615483 | Basal ganglia calcification, idiopathic, 5 | | | | 9 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | PDGFRB CL E G H | 5159 | 8804 | OMIM:213600 | Basal ganglia calcification, idiopathic, 1 | | | | 28 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | PDGFRB CL E G H | 5159 | 8804 | OMIM:615007 | Basal ganglia calcification, idiopathic, 4 | | | | 28 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | PET117 CL E G H | 100303755 | 40045 | OMIM:619063 | MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 19; MC4DN19 | | | | | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | PIDD1 CL E G H | 55367 | 16491 | OMIM:619827 | INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 75, WITH NEUROPSYCHIATRIC FEATURES AND VARIANT LISSENCEPHALY; MRT75 | | | | | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | PINK1 CL E G H | 65018 | 14581 | OMIM:605909 | Parkinson disease 6, autosomal recessive early-onset | | | | 55 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | PINK1 CL E G H | 65018 | 14581 | ORPHA:2828 | Young-onset Parkinson disease | | | | 55 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | PLA2G6 CL E G H | 8398 | 9039 | ORPHA:199351 | Adult-onset dystonia-parkinsonism | | | | 133 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | PLA2G6 CL E G H | 8398 | 9039 | OMIM:610217 | Neurodegeneration with brain iron accumulation 2B | | | | 133 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | PLA2G6 CL E G H | 8398 | 9039 | OMIM:612953 | Parkinson disease 14, autosomal recessive | | | | 133 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | PLAA CL E G H | 9373 | 9043 | OMIM:617527 | Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies | | | | 3 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | PLAA CL E G H | 9373 | 9043 | ORPHA:521426 | PLAA-associated neurodevelopmental disorder | HP:0040282 - Frequent | | | 3 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | PLAU CL E G H | 5328 | 9052 | OMIM:104300 | Alzheimer disease | | | | 50 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | PLP1 CL E G H | 5354 | 9086 | ORPHA:280219 | Pelizaeus-Merzbacher disease, classic form | HP:0040283 - Occasional | | | 60 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | PLP1 CL E G H | 5354 | 9086 | ORPHA:99015 | Spastic paraplegia type 2 | HP:0040282 - Frequent | | | 60 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | PODXL CL E G H | 5420 | 9171 | ORPHA:391411 | Atypical juvenile parkinsonism | | | | 6 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | PODXL CL E G H | 5420 | 9171 | ORPHA:2828 | Young-onset Parkinson disease | | | | 6 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | POLG CL E G H | 5428 | 9179 | ORPHA:254892 | Autosomal dominant progressive external ophthalmoplegia | HP:0040283 - Occasional | | | 464 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | POLG CL E G H | 5428 | 9179 | ORPHA:254886 | Autosomal recessive progressive external ophthalmoplegia | | | | 464 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | POLG CL E G H | 5428 | 9179 | OMIM:157640 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 | | | | 464 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | POLG CL E G H | 5428 | 9179 | OMIM:258450 | Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive | | | | 464 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | POLG2 CL E G H | 11232 | 9180 | ORPHA:254892 | Autosomal dominant progressive external ophthalmoplegia | HP:0040283 - Occasional | | | 45 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | POT1 CL E G H | 25913 | 17284 | ORPHA:618 | Familial melanoma | HP:0040283 - Occasional | | | 23 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | PPP2R2B CL E G H | 5521 | 9305 | OMIM:604326 | Spinocerebellar ataxia 12 | | | | 5 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | PPP2R2B CL E G H | 5521 | 9305 | ORPHA:98762 | Spinocerebellar ataxia type 12 | | | | 5 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | PRDX1 CL E G H | 5052 | 9352 | OMIM:277400 | Methylmalonic aciduria and homocystinuria, Cblc type | . | | | | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | PRDX3 CL E G H | 10935 | 9354 | OMIM:619862 | | | | | | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | PRKAR1B CL E G H | 5575 | 9390 | ORPHA:412066 | PRKAR1B-related neurodegenerative dementia with intermediate filaments | | | | 2 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | PRKN CL E G H | 5071 | 8607 | OMIM:600116 | Parkinson disease, juvenile, type 2 | | | | 138 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | PRKN CL E G H | 5071 | 8607 | ORPHA:2828 | Young-onset Parkinson disease | | | | 138 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | PRKRA CL E G H | 8575 | 9438 | ORPHA:210571 | Dystonia 16 | | | | 37 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | PRKRA CL E G H | 8575 | 9438 | OMIM:612067 | Dystonia 16 | | | | 37 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | PRNP CL E G H | 5621 | 9449 | OMIM:123400 | Creutzfeldt-Jakob disease | | | | 69 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | PRNP CL E G H | 5621 | 9449 | OMIM:137440 | Gerstmann-Straussler disease | | | | 69 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | PRNP CL E G H | 5621 | 9449 | ORPHA:356 | Gerstmann-Straussler-Scheinker syndrome | HP:0040282 - Frequent | | | 69 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | PRNP CL E G H | 5621 | 9449 | ORPHA:157941 | Huntington disease-like 1 | | | | 69 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | PRNP CL E G H | 5621 | 9449 | ORPHA:282166 | Inherited Creutzfeldt-Jakob disease | | | | 69 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | PSAP CL E G H | 5660 | 9498 | OMIM:619491 | PARKINSON DISEASE 24, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO; PARK24 | | | | 81 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | PSEN1 CL E G H | 5663 | 9508 | OMIM:607822 | Alzheimer disease 3 | . | | | 241 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | PSEN1 CL E G H | 5663 | 9508 | ORPHA:275864 | Behavioral variant of frontotemporal dementia | HP:0040283 - Occasional | | | 241 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | PSEN1 CL E G H | 5663 | 9508 | ORPHA:1020 | Early-onset autosomal dominant Alzheimer disease | | | | 241 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | PSEN1 CL E G H | 5663 | 9508 | OMIM:600274 | Frontotemporal dementia | | | | 241 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | PSEN1 CL E G H | 5663 | 9508 | ORPHA:100070 | Progressive non-fluent aphasia | HP:0040283 - Occasional | | | 241 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | PSEN2 CL E G H | 5664 | 9509 | ORPHA:1020 | Early-onset autosomal dominant Alzheimer disease | | | | 59 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | PTS CL E G H | 5805 | 9689 | ORPHA:13 | 6-pyruvoyl-tetrahydropterin synthase deficiency | HP:0040283 - Occasional | | | 19 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | PTS CL E G H | 5805 | 9689 | OMIM:261640 | Hyperphenylalaninemia, BH4-deficient, A | | | | 19 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | PURA CL E G H | 5813 | 9701 | ORPHA:438216 | PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation | | | | 53 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | RAB39B CL E G H | 116442 | 16499 | OMIM:311510 | Waisman syndrome | | | | 34 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | RARS1 CL E G H | 5917 | 9870 | OMIM:616140 | Leukodystrophy, hypomyelinating, 9 | . | | | | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | RARS1 CL E G H | 5917 | 9870 | ORPHA:438114 | RARS-related autosomal recessive hypomyelinating leukodystrophy | | | | | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | RBM10 CL E G H | 8241 | 9896 | ORPHA:2886 | TARP syndrome | | | | 16 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | RFC2 CL E G H | 5982 | 9970 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | RNASEH2A CL E G H | 10535 | 18518 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040282 - Frequent | | | 33 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | RNASEH2B CL E G H | 79621 | 25671 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040282 - Frequent | | | 34 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | RNASEH2C CL E G H | 84153 | 24116 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040282 - Frequent | | | 60 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | RNU7-1 CL E G H | 100147744 | 34033 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040282 - Frequent | | | | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | RRM2B CL E G H | 50484 | 17296 | ORPHA:254892 | Autosomal dominant progressive external ophthalmoplegia | HP:0040283 - Occasional | | | 125 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | SAMHD1 CL E G H | 25939 | 15925 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040282 - Frequent | | | 55 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | SCN1A CL E G H | 6323 | 10585 | ORPHA:33069 | Dravet syndrome | | | | 1053 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | SCN1A CL E G H | 6323 | 10585 | ORPHA:36387 | Generalized epilepsy with febrile seizures-plus | | | | 1053 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | SCN1B CL E G H | 6324 | 10586 | ORPHA:33069 | Dravet syndrome | | | | 126 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | SCN1B CL E G H | 6324 | 10586 | ORPHA:36387 | Generalized epilepsy with febrile seizures-plus | | | | 126 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | SCN2A CL E G H | 6326 | 10588 | ORPHA:33069 | Dravet syndrome | | | | 427 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | SCN2A CL E G H | 6326 | 10588 | ORPHA:36387 | Generalized epilepsy with febrile seizures-plus | | | | 427 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | SCN9A CL E G H | 6335 | 10597 | ORPHA:33069 | Dravet syndrome | | | | 318 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | SCN9A CL E G H | 6335 | 10597 | ORPHA:36387 | Generalized epilepsy with febrile seizures-plus | | | | 318 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | SERAC1 CL E G H | 84947 | 21061 | OMIM:614739 | 3-Methylglutaconic aciduria with deafness, encephalopathy, and leigh-like syndrome | . | | | 47 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | SERPINI1 CL E G H | 5274 | 8943 | OMIM:604218 | Encephalopathy, familial, with neuroserpin inclusion bodies | . | | | 28 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | SIGMAR1 CL E G H | 10280 | 8157 | ORPHA:300605 | Juvenile amyotrophic lateral sclerosis | | | | 6 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | SLC16A2 CL E G H | 6567 | 10923 | ORPHA:59 | Allan-Herndon-Dudley syndrome | HP:0040283 - Occasional | | | 57 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | SLC18A2 CL E G H | 6571 | 10935 | ORPHA:352649 | Brain dopamine-serotonin vesicular transport disease | | | | 2 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | SLC18A2 CL E G H | 6571 | 10935 | OMIM:618049 | Parkinsonism-Dystonia, infantile, 2 | | | | 2 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | SLC20A2 CL E G H | 6575 | 10947 | OMIM:213600 | Basal ganglia calcification, idiopathic, 1 | | | | 70 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | SLC25A4 CL E G H | 291 | 10990 | ORPHA:254892 | Autosomal dominant progressive external ophthalmoplegia | HP:0040283 - Occasional | | | 68 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | SLC2A1 CL E G H | 6513 | 11005 | ORPHA:71277 | Classic glucose transporter type 1 deficiency syndrome | | | | 255 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | SLC2A3 CL E G H | 6515 | 11007 | ORPHA:399 | Huntington disease | | | | 1 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | SLC30A10 CL E G H | 55532 | 25355 | ORPHA:309854 | Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome | | | | 42 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | SLC30A10 CL E G H | 55532 | 25355 | OMIM:613280 | Hypermanganesemia with dystonia 1 | | | | 42 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | SLC39A14 CL E G H | 23516 | 20858 | ORPHA:521406 | Dystonia-parkinsonism-hypermanganesemia syndrome | | | | 5 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | SLC39A14 CL E G H | 23516 | 20858 | OMIM:617013 | Hypermanganesemia with dystonia 2 | | | | 5 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | SLC6A3 CL E G H | 6531 | 11049 | ORPHA:238455 | Infantile dystonia-parkinsonism | | | | 13 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | SLC6A3 CL E G H | 6531 | 11049 | OMIM:613135 | Parkinsonism-Dystonia, infantile, 1 | | | | 13 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | SLC6A5 CL E G H | 9152 | 11051 | OMIM:614618 | Hyperekplexia 3 | | | | 81 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | SLC6A9 CL E G H | 6536 | 11056 | OMIM:617301 | Glycine encephalopathy with normal serum glycine | | | | 4 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | SNCA CL E G H | 6622 | 11138 | OMIM:127750 | Dementia, lewy body | | | | 65 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | SNCA CL E G H | 6622 | 11138 | ORPHA:411602 | Hereditary late-onset Parkinson disease | | | | 65 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | SNCA CL E G H | 6622 | 11138 | OMIM:168601 | Parkinson disease 1, autosomal dominant | | | | 65 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | SNCA CL E G H | 6622 | 11138 | OMIM:605543 | Parkinson disease 4 | | | | 65 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | SNCA CL E G H | 6622 | 11138 | ORPHA:171695 | Parkinsonian-pyramidal syndrome | | | | 65 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | SNCA CL E G H | 6622 | 11138 | ORPHA:2828 | Young-onset Parkinson disease | | | | 65 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | SNCAIP CL E G H | 9627 | 11139 | OMIM:168600 | Parkinson disease, late-onset | | | | 35 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | SNCB CL E G H | 6620 | 11140 | OMIM:127750 | Dementia, lewy body | | | | 2 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | SNORD118 CL E G H | 727676 | 32952 | OMIM:614561 | Leukoencephalopathy, brain calcifications, and cysts | . | | | 6 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | SOD1 CL E G H | 6647 | 11179 | OMIM:618598 | SPASTIC TETRAPLEGIA AND AXIAL HYPOTONIA, PROGRESSIVE; STAHP | | | | 53 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | SORL1 CL E G H | 6653 | 11185 | ORPHA:1020 | Early-onset autosomal dominant Alzheimer disease | | | | 3 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | SPG11 CL E G H | 80208 | 11226 | ORPHA:2822 | Autosomal recessive spastic paraplegia type 11 | HP:0040283 - Occasional | | | 287 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | SPG11 CL E G H | 80208 | 11226 | ORPHA:300605 | Juvenile amyotrophic lateral sclerosis | | | | 287 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | SPG21 CL E G H | 51324 | 20373 | ORPHA:101001 | Autosomal recessive spastic paraplegia type 21 | HP:0040283 - Occasional | | | 28 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | SPR CL E G H | 6697 | 11257 | ORPHA:70594 | Dopa-responsive dystonia due to sepiapterin reductase deficiency | | | | 28 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | SPTLC1 CL E G H | 10558 | 11277 | ORPHA:300605 | Juvenile amyotrophic lateral sclerosis | | | | 54 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | SQSTM1 CL E G H | 8878 | 11280 | ORPHA:275864 | Behavioral variant of frontotemporal dementia | HP:0040283 - Occasional | | | 62 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | SQSTM1 CL E G H | 8878 | 11280 | ORPHA:275872 | Frontotemporal dementia with motor neuron disease | HP:0040282 - Frequent | | | 62 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | STUB1 CL E G H | 10273 | 11427 | OMIM:618093 | SPINOCEREBELLAR ATAXIA 48; SCA48 | | | | 14 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | STX1A CL E G H | 6804 | 11433 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | STX1B CL E G H | 112755 | 18539 | ORPHA:36387 | Generalized epilepsy with febrile seizures-plus | | | | 9 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | SYNJ1 CL E G H | 8867 | 11503 | ORPHA:391411 | Atypical juvenile parkinsonism | | | | 9 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | SYNJ1 CL E G H | 8867 | 11503 | OMIM:615530 | Parkinson disease 20, early-onset | | | | 9 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | SYNJ1 CL E G H | 8867 | 11503 | ORPHA:2828 | Young-onset Parkinson disease | | | | 9 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | SYT1 CL E G H | 6857 | 11509 | ORPHA:522077 | Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome | | | | 1 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | TACO1 CL E G H | 51204 | 24316 | OMIM:619052 | MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 8; MC4DN8 | | | | 23 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | TAF1 CL E G H | 6872 | 11535 | OMIM:314250 | Dystonia 3, torsion, X-linked | | | | 21 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | TAF1 CL E G H | 6872 | 11535 | ORPHA:53351 | X-linked dystonia-parkinsonism | | | | 21 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | TANGO2 CL E G H | 128989 | 25439 | ORPHA:480864 | Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome | HP:0040282 - Frequent | | | 12 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | TARDBP CL E G H | 23435 | 11571 | ORPHA:275872 | Frontotemporal dementia with motor neuron disease | HP:0040282 - Frequent | | | 65 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | TBC1D24 CL E G H | 57465 | 29203 | OMIM:615338 | Epileptic encephalopathy, early infantile, 16 | . | | | 271 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | TBC1D24 CL E G H | 57465 | 29203 | ORPHA:352596 | Progressive myoclonic epilepsy with dystonia | HP:0040283 - Occasional | | | 271 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | TBK1 CL E G H | 29110 | 11584 | ORPHA:275872 | Frontotemporal dementia with motor neuron disease | HP:0040282 - Frequent | | | 20 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | TBL2 CL E G H | 26608 | 11586 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | TBP CL E G H | 6908 | 11588 | OMIM:168600 | Parkinson disease, late-onset | | | | 7 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | TBP CL E G H | 6908 | 11588 | OMIM:607136 | Spinocerebellar ataxia 17 | | | | 7 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | TBP CL E G H | 6908 | 11588 | ORPHA:98759 | Spinocerebellar ataxia type 17 | | | | 7 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | TERF2IP CL E G H | 54386 | 19246 | ORPHA:618 | Familial melanoma | HP:0040283 - Occasional | | | | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | TERT CL E G H | 7015 | 11730 | ORPHA:618 | Familial melanoma | HP:0040283 - Occasional | | | 238 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | TH CL E G H | 7054 | 11782 | ORPHA:101150 | Autosomal recessive dopa-responsive dystonia | HP:0040282 - Frequent | | | 80 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | TH CL E G H | 7054 | 11782 | OMIM:605407 | Segawa syndrome, autosomal recessive | . | | | 80 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | TK2 CL E G H | 7084 | 11831 | ORPHA:254886 | Autosomal recessive progressive external ophthalmoplegia | | | | 103 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | TMEM106B CL E G H | 54664 | 22407 | ORPHA:275864 | Behavioral variant of frontotemporal dementia | HP:0040283 - Occasional | | | | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | TMEM106B CL E G H | 54664 | 22407 | ORPHA:100070 | Progressive non-fluent aphasia | HP:0040283 - Occasional | | | | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | TMEM240 CL E G H | 339453 | 25186 | OMIM:607454 | Spinocerebellar ataxia 21 | . | | | 9 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | TMEM240 CL E G H | 339453 | 25186 | ORPHA:98773 | Spinocerebellar ataxia type 21 | HP:0040281 - Very frequent | | | 9 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | TMEM270 CL E G H | 135886 | 23018 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | TNIK CL E G H | 23043 | 30765 | OMIM:617028 | Mental retardation, autosomal recessive 54 | | | | 2 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | TNR CL E G H | 7143 | 11953 | OMIM:619653 | NEURODEVELOPMENTAL DISORDER, NONPROGRESSIVE, WITH SPASTICITY AND TRANSIENT OPISTHOTONUS; NEDSTO | | | | 7 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | TOMM40 CL E G H | 10452 | 18001 | ORPHA:1020 | Early-onset autosomal dominant Alzheimer disease | | | | | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | TPM2 CL E G H | 7169 | 12011 | ORPHA:171439 | Childhood-onset nemaline myopathy | | | | 54 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | TPM3 CL E G H | 7170 | 12012 | ORPHA:171439 | Childhood-onset nemaline myopathy | | | | 108 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | TRAK1 CL E G H | 22906 | 29947 | OMIM:618201 | Epileptic encephalopathy, early infantile, 68 | | | | | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | TREM2 CL E G H | 54209 | 17761 | ORPHA:275864 | Behavioral variant of frontotemporal dementia | HP:0040283 - Occasional | | | 31 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | TREM2 CL E G H | 54209 | 17761 | ORPHA:1020 | Early-onset autosomal dominant Alzheimer disease | | | | 31 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | TREM2 CL E G H | 54209 | 17761 | ORPHA:100070 | Progressive non-fluent aphasia | HP:0040283 - Occasional | | | 31 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | TREX1 CL E G H | 11277 | 12269 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040282 - Frequent | | | 56 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | TREX1 CL E G H | 11277 | 12269 | OMIM:225750 | Aicardi-Goutieres syndrome 1 | . | | | 56 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | TRNT CL E G H | 4576 | 7499 | OMIM:168600 | Parkinson disease, late-onset | | | | | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | TRPM7 CL E G H | 54822 | 17994 | OMIM:105500 | Amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 | | | | 2 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | TSEN2 CL E G H | 80746 | 28422 | OMIM:612389 | Pontocerebellar hypoplasia, type 2B | | | | 84 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | TSEN54 CL E G H | 283989 | 27561 | OMIM:277470 | Pontocerebellar hypoplasia, type 2A | | | | 102 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | TSPOAP1 CL E G H | 9256 | 16831 | ORPHA:101150 | Autosomal recessive dopa-responsive dystonia | HP:0040282 - Frequent | | | 2 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | TSPYL1 CL E G H | 7259 | 12382 | OMIM:608800 | Sudden infant death with dysgenesis of the testes syndrome | | | | 1 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | TTC19 CL E G H | 54902 | 26006 | OMIM:615157 | Mitochondrial complex III deficiency, nuclear type 2 | | | | 88 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | TWNK CL E G H | 56652 | 1160 | ORPHA:254892 | Autosomal dominant progressive external ophthalmoplegia | HP:0040283 - Occasional | | | 113 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | TWNK CL E G H | 56652 | 1160 | OMIM:609286 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 | | | | 113 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | UBTF CL E G H | 7343 | 12511 | ORPHA:500180 | Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder | HP:0040281 - Very frequent | | | 1 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | UBTF CL E G H | 7343 | 12511 | OMIM:617672 | Neurodegeneration, childhood-onset, with brain atrophy | . | | | 1 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | UCHL1 CL E G H | 7345 | 12513 | OMIM:613643 | PARKINSON DISEASE 5, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO; PARK5 | | | | 21 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | UCHL1 CL E G H | 7345 | 12513 | ORPHA:2828 | Young-onset Parkinson disease | | | | 21 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | UQCRC1 CL E G H | 7384 | 12585 | OMIM:619279 | PARKINSONISM WITH POLYNEUROPATHY; PKNPY | | | | | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | UQCRQ CL E G H | 27089 | 29594 | OMIM:615159 | Mitochondrial complex III deficiency, nuclear type 4 | . | | | 34 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | VCP CL E G H | 7415 | 12666 | ORPHA:329478 | Adult-onset distal myopathy due to VCP mutation | | | | 63 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | VCP CL E G H | 7415 | 12666 | ORPHA:275864 | Behavioral variant of frontotemporal dementia | HP:0040283 - Occasional | | | 63 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | VCP CL E G H | 7415 | 12666 | ORPHA:275872 | Frontotemporal dementia with motor neuron disease | HP:0040282 - Frequent | | | 63 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | VCP CL E G H | 7415 | 12666 | ORPHA:100070 | Progressive non-fluent aphasia | HP:0040283 - Occasional | | | 63 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | VPS13A CL E G H | 23230 | 1908 | ORPHA:2388 | Choreoacanthocytosis | | | | 130 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | VPS13A CL E G H | 23230 | 1908 | OMIM:200150 | CHOREOACANTHOCYTOSIS | | | | 130 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | VPS13C CL E G H | 54832 | 23594 | OMIM:616840 | Parkinson disease 23, autosomal recessive early-onset | | | | 8 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | VPS13C CL E G H | 54832 | 23594 | ORPHA:2828 | Young-onset Parkinson disease | | | | 8 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | VPS35 CL E G H | 55737 | 13487 | ORPHA:411602 | Hereditary late-onset Parkinson disease | | | | 37 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | VPS35 CL E G H | 55737 | 13487 | OMIM:614203 | Parkinson disease 17 | | | | 37 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | VPS37D CL E G H | 155382 | 18287 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | WARS2 CL E G H | 10352 | 12730 | OMIM:619738 | PARKINSONISM-DYSTONIA 3, CHILDHOOD-ONSET; PKDYS3 | | | | 2 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | WDR45 CL E G H | 11152 | 28912 | ORPHA:329284 | Beta-propeller protein-associated neurodegeneration | | | | 51 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | WDR45 CL E G H | 11152 | 28912 | OMIM:300894 | Neurodegeneration with brain iron accumulation 5 | . | | | 51 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | WDR73 CL E G H | 84942 | 25928 | ORPHA:83472 | CAMOS syndrome | | | | 14 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | XPA CL E G H | 7507 | 12814 | ORPHA:910 | Xeroderma pigmentosum | HP:0040283 - Occasional | | | 34 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | XPC CL E G H | 7508 | 12816 | ORPHA:910 | Xeroderma pigmentosum | HP:0040283 - Occasional | | | 86 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | XPR1 CL E G H | 9213 | 12827 | OMIM:616413 | Basal ganglia calcification, idiopathic, 6 | | | | 4 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | ZFYVE26 CL E G H | 23503 | 20761 | ORPHA:100996 | Autosomal recessive spastic paraplegia type 15 | HP:0040282 - Frequent | | | 189 | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | ZMYM2 CL E G H | 7750 | 12989 | OMIM:619522 | NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC | | | | | | |
HP:0002071 | HP:0002071 | Abnormality of extrapyramidal motor function | 0 | ZNF592 CL E G H | 9640 | 28986 | ORPHA:83472 | CAMOS syndrome | | | | 4 | | |
HP:0002071 | HP:0001300 | Parkinsonism | 1 | ABCA7 CL E G H | 10347 | 37 | ORPHA:1020 | Early-onset autosomal dominant Alzheimer disease | HP:0040281 - Very frequent | | | 3 | | |
HP:0002071 | HP:0007308 | Extrapyramidal dyskinesia | 1 | ACAT1 CL E G H | 38 | 93 | ORPHA:134 | Beta-ketothiolase deficiency | HP:0040283 - Occasional | | | 91 | | |
HP:0002071 | HP:0002067 | Bradykinesia | 1 | ACTA1 CL E G H | 58 | 129 | ORPHA:171439 | Childhood-onset nemaline myopathy | HP:0040282 - Frequent | | | 96 | | |
HP:0002071 | HP:0007076 | Extrapyramidal muscular rigidity | 1 | ADAR CL E G H | 103 | 225 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040282 - Frequent | | | 116 | | |
HP:0002071 | HP:0002067 | Bradykinesia | 1 | ADGRV1 CL E G H | 84059 | 17416 | ORPHA:36387 | Generalized epilepsy with febrile seizures-plus | HP:0040284 - Very rare | | | 530 | | |
HP:0002071 | HP:0002067 | Bradykinesia | 1 | ADH1C CL E G H | 126 | 251 | OMIM:168600 | Parkinson disease, late-onset | . | | | 4 | | |
HP:0002071 | HP:0001300 | Parkinsonism | 1 | ADH1C CL E G H | 126 | 251 | OMIM:168600 | Parkinson disease, late-onset | . | | | 4 | | |
HP:0002071 | HP:0001300 | Parkinsonism | 1 | AFG3L2 CL E G H | 10939 | 315 | OMIM:610246 | Spinocerebellar ataxia 28 | HP:0040283 - Occasional | | | 86 | | |
HP:0002071 | HP:0001300 | Parkinsonism | 1 | AFG3L2 CL E G H | 10939 | 315 | ORPHA:101109 | Spinocerebellar ataxia type 28 | HP:0040283 - Occasional | | | 86 | | |
HP:0002071 | HP:0001300 | Parkinsonism | 1 | ALS2 CL E G H | 57679 | 443 | ORPHA:300605 | Juvenile amyotrophic lateral sclerosis | HP:0040283 - Occasional | | | 114 | | |
HP:0002071 | HP:0001300 | Parkinsonism | 1 | AOPEP CL E G H | 84909 | 1361 | OMIM:619565 | DYSTONIA 31; DYT31 | | | | | | |
HP:0002071 | HP:0001300 | Parkinsonism | 1 | AP5Z1 CL E G H | 9907 | 22197 | ORPHA:306511 | Autosomal recessive spastic paraplegia type 48 | HP:0040283 - Occasional | | | 165 | | |
HP:0002071 | HP:0001300 | Parkinsonism | 1 | AP5Z1 CL E G H | 9907 | 22197 | OMIM:613647 | Spastic paraplegia 48, autosomal recessive | . | | | 165 | | |
HP:0002071 | HP:0001300 | Parkinsonism | 1 | APOE CL E G H | 348 | 613 | OMIM:104310 | Alzheimer disease 2 | . | | | 39 | | |
HP:0002071 | HP:0001300 | Parkinsonism | 1 | APP CL E G H | 351 | 620 | OMIM:104300 | Alzheimer disease | . | | | 74 | | |
HP:0002071 | HP:0001300 | Parkinsonism | 1 | APP CL E G H | 351 | 620 | ORPHA:1020 | Early-onset autosomal dominant Alzheimer disease | HP:0040281 - Very frequent | | | 74 | | |
HP:0002071 | HP:0002267 | Exaggerated startle response | 1 | ARHGEF9 CL E G H | 23229 | 14561 | OMIM:300607 | Epileptic encephalopathy, early infantile, 8 | . | | | 45 | | |
HP:0002071 | HP:0002267 | Exaggerated startle response | 1 | ARHGEF9 CL E G H | 23229 | 14561 | ORPHA:163985 | Hyperekplexia-epilepsy syndrome | HP:0040282 - Frequent | | | 45 | | |
HP:0002071 | HP:0002267 | Exaggerated startle response | 1 | ASNS CL E G H | 440 | 753 | OMIM:615574 | Asparagine synthetase deficiency | . | | | 17 | | |
HP:0002071 | HP:0002067 | Bradykinesia | 1 | ATL1 CL E G H | 51062 | 11231 | ORPHA:100984 | Autosomal dominant spastic paraplegia type 3 | HP:0040284 - Very rare | | | 71 | | |
HP:0002071 | HP:0001300 | Parkinsonism | 1 | ATN1 CL E G H | 1822 | 3033 | OMIM:125370 | Dentatorubral-Pallidoluysian atrophy naito-oyanagi disease haw river syndrome ataxia, chorea, seizures, and dementia | | | | 16 | | |
HP:0002071 | HP:0001300 | Parkinsonism | 1 | ATP13A2 CL E G H | 23400 | 30213 | ORPHA:314632 | ATP13A2-related juvenile neuronal ceroid lipofuscinosis | | | | 100 | | |
HP:0002071 | HP:0002067 | Bradykinesia | 1 | ATP13A2 CL E G H | 23400 | 30213 | ORPHA:314632 | ATP13A2-related juvenile neuronal ceroid lipofuscinosis | HP:0040282 - Frequent | | | 100 | | |
HP:0002071 | HP:0007153 | Progressive extrapyramidal movement disorder | 1 | ATP13A2 CL E G H | 23400 | 30213 | ORPHA:513436 | Autosomal recessive spastic paraplegia type 78 | HP:0040284 - Very rare | | | 100 | | |
HP:0002071 | HP:0001300 | Parkinsonism | 1 | ATP13A2 CL E G H | 23400 | 30213 | ORPHA:306674 | Kufor-Rakeb syndrome | HP:0040281 - Very frequent | | | 100 | | |
HP:0002071 | HP:0002067 | Bradykinesia | 1 | ATP13A2 CL E G H | 23400 | 30213 | OMIM:606693 | Kufor-Rakeb syndrome | | | | 100 | | |
HP:0002071 | HP:0002067 | Bradykinesia | 1 | ATP13A2 CL E G H | 23400 | 30213 | ORPHA:306674 | Kufor-Rakeb syndrome | HP:0040283 - Occasional | | | 100 | | |
HP:0002071 | HP:0001300 | Parkinsonism | 1 | ATP13A2 CL E G H | 23400 | 30213 | OMIM:606693 | Kufor-Rakeb syndrome | . | | | 100 | | |
HP:0002071 | HP:0002067 | Bradykinesia | 1 | ATP13A2 CL E G H | 23400 | 30213 | OMIM:617225 | SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE; SPG78 | | | | 100 | | |
HP:0002071 | HP:0001300 | Parkinsonism | 1 | ATP13A2 CL E G H | 23400 | 30213 | OMIM:617225 | SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE; SPG78 | | | | 100 | | |
HP:0002071 | HP:0002067 | Bradykinesia | 1 | ATP1A3 CL E G H | 478 | 801 | OMIM:601338 | Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss | | | | 150 | | |
HP:0002071 | HP:0001300 | Parkinsonism | 1 | ATP1A3 CL E G H | 478 | 801 | OMIM:128235 | Dystonia 12 | . | | | 150 | | |
HP:0002071 | HP:0002067 | Bradykinesia | 1 | ATP1A3 CL E G H | 478 | 801 | OMIM:128235 | Dystonia 12 | . | | | 150 | | |
HP:0002071 | HP:0001300 | Parkinsonism | 1 | ATP1A3 CL E G H | 478 | 801 | ORPHA:71517 | Rapid-onset dystonia-parkinsonism | HP:0040282 - Frequent | | | 150 | | |
HP:0002071 | HP:0002067 | Bradykinesia | 1 | ATP1A3 CL E G H | 478 | 801 | ORPHA:71517 | Rapid-onset dystonia-parkinsonism | HP:0040282 - Frequent | | | 150 | | |
HP:0002071 | HP:0002067 | Bradykinesia | 1 | ATP5MK CL E G H | 84833 | 30889 | OMIM:618683 | MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 6; MC5DN6 | | | | | | |
HP:0002071 | HP:0001300 | Parkinsonism | 1 | ATP6AP2 CL E G H | 10159 | 18305 | OMIM:300423 | MENTAL RETARDATION, X-LINKED, SYNDROMIC, HEDERA TYPE; MRXSH | | | | 36 | | |
HP:0002071 | HP:0002067 | Bradykinesia | 1 | ATP6AP2 CL E G H | 10159 | 18305 | OMIM:300423 | MENTAL RETARDATION, X-LINKED, SYNDROMIC, HEDERA TYPE; MRXSH | | | | 36 | | |
HP:0002071 | HP:0002067 | Bradykinesia | 1 | ATP6AP2 CL E G H | 10159 | 18305 | OMIM:300911 | Parkinsonism with spasticity, X-linked | . | | | 36 | | |
HP:0002071 | HP:0001300 | Parkinsonism | 1 | ATP6AP2 CL E G H | 10159 | 18305 | OMIM:300911 | Parkinsonism with spasticity, X-linked | . | | | 36 | | |
HP:0002071 | HP:0007076 | Extrapyramidal muscular rigidity | 1 | ATP6AP2 CL E G H | 10159 | 18305 | ORPHA:93952 | X-linked intellectual disability, Hedera type | HP:0040282 - Frequent | | | 36 | | |
HP:0002071 | HP:0002067 | Bradykinesia | 1 | ATP6AP2 CL E G H | 10159 | 18305 | ORPHA:363654 | X-linked parkinsonism-spasticity syndrome | HP:0040282 - Frequent | | | 36 | | |
HP:0002071 | HP:0001300 | Parkinsonism | 1 | ATP7B CL E G H | 540 | 870 | OMIM:277900 | Wilson disease | | | | 315 | | |
HP:0002071 | HP:0002067 | Bradykinesia | 1 | ATXN1 CL E G H | 6310 | 10548 | ORPHA:98755 | Spinocerebellar ataxia type 1 | HP:0040282 - Frequent | | | 19 | | |
HP:0002071 | HP:0002067 | Bradykinesia | 1 | ATXN10 CL E G H | 25814 | 10549 | OMIM:603516 | Spinocerebellar ataxia 10 | | | | 9 | | |
HP:0002071 | HP:0002067 | Bradykinesia | 1 | ATXN2 CL E G H | 6311 | 10555 | OMIM:168600 | Parkinson disease, late-onset | . | | | 11 | | |
HP:0002071 | HP:0001300 | Parkinsonism | 1 | ATXN2 CL E G H | 6311 | 10555 | OMIM:168600 | Parkinson disease, late-onset | . | | | 11 | | |
HP:0002071 | HP:0001300 | Parkinsonism | 1 | ATXN2 CL E G H | 6311 | 10555 | OMIM:183090 | Spinocerebellar ataxia 2 | . | | | 11 | | |
HP:0002071 | HP:0002067 | Bradykinesia | 1 | ATXN2 CL E G H | 6311 | 10555 | OMIM:183090 | Spinocerebellar ataxia 2 | . | | | 11 | | |
HP:0002071 | HP:0001300 | Parkinsonism | 1 | ATXN2 CL E G H | 6311 | 10555 | ORPHA:98756 | Spinocerebellar ataxia type 2 | HP:0040283 - Occasional | | | 11 | | |
HP:0002071 | HP:0001300 | Parkinsonism | 1 | ATXN3 CL E G H | 4287 | 7106 | OMIM:109150 | Machado-Joseph disease | | | | 14 | | |
HP:0002071 | HP:0002067 | Bradykinesia | 1 | ATXN3 CL E G H | 4287 | 7106 | OMIM:109150 | Machado-Joseph disease | . | | | 14 | | |
HP:0002071 | HP:0002067 | Bradykinesia | 1 | ATXN8 CL E G H | 724066 | 32925 | ORPHA:98760 | Spinocerebellar ataxia type 8 | HP:0040282 - Frequent | | | 1 | | |
HP:0002071 | HP:0001300 | Parkinsonism | 1 | ATXN8OS CL E G H | 6315 | 10561 | OMIM:168600 | Parkinson disease, late-onset | . | | | 1 | | |
HP:0002071 | HP:0002067 | Bradykinesia | 1 | ATXN8OS CL E G H | 6315 | 10561 | OMIM:168600 | Parkinson disease, late-onset | . | | | 1 | | |
HP:0002071 | HP:0002067 | Bradykinesia | 1 | ATXN8OS CL E G H | 6315 | 10561 | ORPHA:98760 | Spinocerebellar ataxia type 8 | HP:0040282 - Frequent | | | 1 | | |
HP:0002071 | HP:0002067 | Bradykinesia | 1 | C19ORF12 CL E G H | 83636 | 25443 | ORPHA:289560 | Mitochondrial membrane protein-associated neurodegeneration | HP:0040282 - Frequent | | | 114 | | |
HP:0002071 | HP:0001300 | Parkinsonism | 1 | C19ORF12 CL E G H | 83636 | 25443 | ORPHA:289560 | Mitochondrial membrane protein-associated neurodegeneration | HP:0040282 - Frequent | | | 114 | | |
HP:0002071 | HP:0001300 | Parkinsonism | 1 | C19ORF12 CL E G H | 83636 | 25443 | OMIM:614298 | Neurodegeneration with brain iron accumulation 4 | . | | | 114 | | |
HP:0002071 | HP:0001300 | Parkinsonism | 1 | C9ORF72 CL E G H | 203228 | 28337 | OMIM:105550 | Amyotrophic lateral sclerosis and/or frontotemporal dementia 1 | . | | | 56 | | |
HP:0002071 | HP:0007308 | Extrapyramidal dyskinesia | 1 | C9ORF72 CL E G H | 203228 | 28337 | OMIM:105550 | Amyotrophic lateral sclerosis and/or frontotemporal dementia 1 | . | | | 56 | | |
HP:0002071 | HP:0001300 | Parkinsonism | 1 | C9ORF72 CL E G H | 203228 | 28337 | ORPHA:275872 | Frontotemporal dementia with motor neuron disease | HP:0040282 - Frequent | | | 56 | | |
HP:0002071 | HP:0001300 | Parkinsonism | 1 | C9ORF72 CL E G H | 203228 | 28337 | ORPHA:401901 | Huntington disease-like syndrome due to C9ORF72 expansions | HP:0040283 - Occasional | | | 56 | | |
HP:0002071 | HP:0001300 | Parkinsonism | 1 | C9ORF72 CL E G H | 203228 | 28337 | ORPHA:100070 | Progressive non-fluent aphasia | HP:0040283 - Occasional | | | 56 | | |
HP:0002071 | HP:0011445 | Athetoid cerebral palsy | 1 | CAMK2B CL E G H | 816 | 1461 | OMIM:617799 | Mental retardation, autosomal dominant 54 | | | | | | |
HP:0002071 | HP:0001300 | Parkinsonism | 1 | CAT CL E G H | 847 | 1516 | ORPHA:926 | Acatalasemia | HP:0040284 - Very rare | | | 5 | | |
HP:0002071 | HP:0001300 | Parkinsonism | 1 | CHCHD10 CL E G H | 400916 | 15559 | OMIM:615911 | Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 | HP:0040283 - Occasional | | | 11 | | |
HP:0002071 | HP:0001300 | Parkinsonism | 1 | CHCHD10 CL E G H | 400916 | 15559 | ORPHA:275872 | Frontotemporal dementia with motor neuron disease | HP:0040282 - Frequent | | | 11 | | |
HP:0002071 | HP:0002067 | Bradykinesia | 1 | CHCHD2 CL E G H | 51142 | 21645 | OMIM:616710 | Parkinson disease 22, autosomal dominant | . | | | 3 | | |
HP:0002071 | HP:0001300 | Parkinsonism | 1 | CHMP2B CL E G H | 25978 | 24537 | ORPHA:100070 | Progressive non-fluent aphasia | HP:0040283 - Occasional | | | 42 | | |
HP:0002071 | HP:0001300 | Parkinsonism | 1 | CLN3 CL E G H | 1201 | 2074 | OMIM:204200 | Ceroid lipofuscinosis, neuronal, 3 | . | | | 216 | | |
HP:0002071 | HP:0007076 | Extrapyramidal muscular rigidity | 1 | CLN3 CL E G H | 1201 | 2074 | ORPHA:228346 | CLN3 disease | | | | 216 | | |
HP:0002071 | HP:0002067 | Bradykinesia | 1 | CLN3 CL E G H | 1201 | 2074 | ORPHA:228346 | CLN3 disease | | | | 216 | | |
HP:0002071 | HP:0007153 | Progressive extrapyramidal movement disorder | 1 | CLPB CL E G H | 81570 | 30664 | ORPHA:445038 | 3-methylglutaconic aciduria type 7 | HP:0040282 - Frequent | | | 38 | | |
HP:0002071 | HP:0002067 | Bradykinesia | 1 | CLTC CL E G H | 1213 | 2092 | OMIM:617854 | Mental retardation, autosomal dominant 56 | | | | 1 | | |
HP:0002071 | HP:0001300 | Parkinsonism | 1 | COASY CL E G H | 80347 | 29932 | ORPHA:397725 | COASY protein-associated neurodegeneration | HP:0040281 - Very frequent | | | 16 | | |
HP:0002071 | HP:0002067 | Bradykinesia | 1 | COASY CL E G H | 80347 | 29932 | OMIM:615643 | Neurodegeneration with brain iron accumulation 6 | . | | | 16 | | |
HP:0002071 | HP:0002067 | Bradykinesia | 1 | COQ2 CL E G H | 27235 | 25223 | OMIM:146500 | Multiple system atrophy 1, susceptibility to | . | | | 54 | | |
HP:0002071 | HP:0001300 | Parkinsonism | 1 | COQ2 CL E G H | 27235 | 25223 | OMIM:146500 | Multiple system atrophy 1, susceptibility to | . | | | 54 | | |
HP:0002071 | HP:0002067 | Bradykinesia | 1 | COQ2 CL E G H | 27235 | 25223 | ORPHA:227510 | Multiple system atrophy, cerebellar type | HP:0040283 - Occasional | | | 54 | | |
HP:0002071 | HP:0001300 | Parkinsonism | 1 | COQ2 CL E G H | 27235 | 25223 | ORPHA:227510 | Multiple system atrophy, cerebellar type | HP:0040283 - Occasional | | | 54 | | |
HP:0002071 | HP:0001300 | Parkinsonism | 1 | COQ2 CL E G H | 27235 | 25223 | ORPHA:98933 | Multiple system atrophy, parkinsonian type | HP:0040282 - Frequent | | | 54 | | |
HP:0002071 | HP:0002067 | Bradykinesia | 1 | COQ2 CL E G H | 27235 | 25223 | ORPHA:98933 | Multiple system atrophy, parkinsonian type | HP:0040282 - Frequent | | | 54 | | |
HP:0002071 | HP:0001300 | Parkinsonism | 1 | CP CL E G H | 1356 | 2295 | ORPHA:48818 | Aceruloplasminemia | HP:0040283 - Occasional | | | 115 | | |
HP:0002071 | HP:0002067 | Bradykinesia | 1 | CSF1R CL E G H | 1436 | 2433 | OMIM:221820 | Leukoencephalopathy, diffuse hereditary, with spheroids | . | | | 149 | | |
HP:0002071 | HP:0001300 | Parkinsonism | 1 | CSF1R CL E G H | 1436 | 2433 | OMIM:221820 | Leukoencephalopathy, diffuse hereditary, with spheroids | | | | 149 | | |
HP:0002071 | HP:0001300 | Parkinsonism | 1 | CYP27A1 CL E G H | 1593 | 2605 | ORPHA:909 | Cerebrotendinous xanthomatosis | HP:0040283 - Occasional | | | 114 | | |
HP:0002071 | HP:0001300 | Parkinsonism | 1 | DCTN1 CL E G H | 1639 | 2711 | ORPHA:178509 | Perry syndrome | HP:0040281 - Very frequent | | | 86 | | |
HP:0002071 | HP:0001300 | Parkinsonism | 1 | DCTN1 CL E G H | 1639 | 2711 | OMIM:168605 | Perry syndrome | | | | 86 | | |
HP:0002071 | HP:0002067 | Bradykinesia | 1 | DCTN1 CL E G H | 1639 | 2711 | OMIM:168605 | Perry syndrome | . | | | 86 | | |
HP:0002071 | HP:0002267 | Exaggerated startle response | 1 | DDC CL E G H | 1644 | 2719 | OMIM:608643 | Aromatic L-amino acid decarboxylase deficiency | | | | 43 | | |
HP:0002071 | HP:0002067 | Bradykinesia | 1 | DHDDS CL E G H | 79947 | 20603 | OMIM:617836 | Developmental delay and seizures with or without movement abnormalities | . | | | 47 | | |
HP:0002071 | HP:0001300 | Parkinsonism | 1 | DNAJC12 CL E G H | 56521 | 28908 | OMIM:617384 | Hyperphenylalaninemia, MILD, non-bh4-deficient | | | | 3 | | |
HP:0002071 | HP:0002067 | Bradykinesia | 1 | DNAJC12 CL E G H | 56521 | 28908 | OMIM:617384 | Hyperphenylalaninemia, MILD, non-bh4-deficient | . | | | 3 | | |
HP:0002071 | HP:0001300 | Parkinsonism | 1 | DNAJC13 CL E G H | 23317 | 30343 | ORPHA:411602 | Hereditary late-onset Parkinson disease | HP:0040280 - Obligate | | | 2 | | |
HP:0002071 | HP:0002067 | Bradykinesia | 1 | DNAJC13 CL E G H | 23317 | 30343 | ORPHA:411602 | Hereditary late-onset Parkinson disease | HP:0040283 - Occasional | | | 2 | | |
HP:0002071 | HP:0001300 | Parkinsonism | 1 | DNAJC5 CL E G H | 80331 | 16235 | OMIM:162350 | Ceroid lipofuscinosis, neuronal, 4B, autosomal dominant | . | | | 155 | | |
HP:0002071 | HP:0002067 | Bradykinesia | 1 | DNAJC6 CL E G H | 9829 | 15469 | ORPHA:391411 | Atypical juvenile parkinsonism | HP:0040281 - Very frequent | | | 6 | | |
HP:0002071 | HP:0001300 | Parkinsonism | 1 | DNAJC6 CL E G H | 9829 | 15469 | OMIM:615528 | Parkinson disease 19a, juvenile-onset | . | | | 6 | | |
HP:0002071 | HP:0002067 | Bradykinesia | 1 | DNAJC6 CL E G H | 9829 | 15469 | OMIM:615528 | Parkinson disease 19a, juvenile-onset | . | | | 6 | | |
HP:0002071 | HP:0002067 | Bradykinesia | 1 | DNAJC6 CL E G H | 9829 | 15469 | ORPHA:2828 | Young-onset Parkinson disease | HP:0040283 - Occasional | | | 6 | | |
HP:0002071 | HP:0007308 | Extrapyramidal dyskinesia | 1 | DPYS CL E G H | 1807 | 3013 | OMIM:222748 | Dihydropyrimidinuria | . | | | 44 | | |
HP:0002071 | HP:0002067 | Bradykinesia | 1 | EARS2 CL E G H | 124454 | 29419 | OMIM:614924 | Combined oxidative phosphorylation deficiency 12 | . | | | 80 | | |
HP:0002071 | HP:0002067 | Bradykinesia | 1 | EIF2AK1 CL E G H | 27102 | 24921 | OMIM:618878 | LEUKOENCEPHALOPATHY, MOTOR DELAY, SPASTICITY, AND DYSARTHRIA SYNDROME; LEMSPAD | | | | | | |
HP:0002071 | HP:0002067 | Bradykinesia | 1 | EIF2AK2 CL E G H | 5610 | 9437 | OMIM:618877 | LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME; LEUDEN | | | | | | |
HP:0002071 | HP:0001300 | Parkinsonism | 1 | EIF2AK2 CL E G H | 5610 | 9437 | OMIM:618877 | LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME; LEUDEN | | | | | | |
HP:0002071 | HP:0001300 | Parkinsonism | 1 | EIF4G1 CL E G H | 1981 | 3296 | ORPHA:411602 | Hereditary late-onset Parkinson disease | HP:0040280 - Obligate | | | 2 | | |
HP:0002071 | HP:0002067 | Bradykinesia | 1 | EIF4G1 CL E G H | 1981 | 3296 | ORPHA:411602 | Hereditary late-onset Parkinson disease | HP:0040283 - Occasional | | | 2 | | |
HP:0002071 | HP:0001300 | Parkinsonism | 1 | EIF4G1 CL E G H | 1981 | 3296 | OMIM:614251 | Parkinson disease 18 | . | | | 2 | | |
HP:0002071 | HP:0002067 | Bradykinesia | 1 | EIF4G1 CL E G H | 1981 | 3296 | OMIM:614251 | Parkinson disease 18 | . | | | 2 | | |
HP:0002071 | HP:0007153 | Progressive extrapyramidal movement disorder | 1 | FA2H CL E G H | 79152 | 21197 | ORPHA:329308 | Fatty acid hydroxylase-associated neurodegeneration | HP:0040282 - Frequent | | | 76 | | |
HP:0002071 | HP:0002067 | Bradykinesia | 1 | FARS2 CL E G H | 10667 | 21062 | ORPHA:466722 | Autosomal recessive spastic paraplegia type 77 | HP:0040283 - Occasional | | | 36 | | |
HP:0002071 | HP:0001300 | Parkinsonism | 1 | FBXO7 CL E G H | 25793 | 13586 | OMIM:260300 | Parkinson disease 15, autosomal recessive early-onset | . | | | 36 | | |
HP:0002071 | HP:0002067 | Bradykinesia | 1 | FBXO7 CL E G H | 25793 | 13586 | OMIM:260300 | Parkinson disease 15, autosomal recessive early-onset | . | | | 36 | | |
HP:0002071 | HP:0002067 | Bradykinesia | 1 | FBXO7 CL E G H | 25793 | 13586 | ORPHA:171695 | Parkinsonian-pyramidal syndrome | HP:0040282 - Frequent | | | 36 | | |
HP:0002071 | HP:0001300 | Parkinsonism | 1 | FBXO7 CL E G H | 25793 | 13586 | ORPHA:171695 | Parkinsonian-pyramidal syndrome | HP:0040280 - Obligate | | | 36 | | |
HP:0002071 | HP:0002267 | Exaggerated startle response | 1 | FKTN CL E G H | 2218 | 3622 | OMIM:253800 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4 | HP:0040283 - Occasional | | | 184 | | |
HP:0002071 | HP:0002267 | Exaggerated startle response | 1 | FLRT1 CL E G H | 23769 | 3760 | ORPHA:320406 | Spastic paraplegia-optic atrophy-neuropathy syndrome | HP:0040282 - Frequent | | | | | |
HP:0002071 | HP:0001300 | Parkinsonism | 1 | FMR1 CL E G H | 2332 | 3775 | OMIM:300623 | Fragile X tremor/ataxia syndrome | | | | 30 | | |
HP:0002071 | HP:0002067 | Bradykinesia | 1 | FMR1 CL E G H | 2332 | 3775 | OMIM:300623 | Fragile X tremor/ataxia syndrome | | | | 30 | | |
HP:0002071 | HP:0001300 | Parkinsonism | 1 | FMR1 CL E G H | 2332 | 3775 | ORPHA:93256 | Fragile X-associated tremor/ataxia syndrome | HP:0040283 - Occasional | | | 30 | | |
HP:0002071 | HP:0002067 | Bradykinesia | 1 | FMR1 CL E G H | 2332 | 3775 | ORPHA:93256 | Fragile X-associated tremor/ataxia syndrome | HP:0040283 - Occasional | | | 30 | | |
HP:0002071 | HP:0001300 | Parkinsonism | 1 | FTL CL E G H | 2512 | 3999 | OMIM:606159 | Neurodegeneration with brain iron accumulation 3 | . | | | 33 | | |
HP:0002071 | HP:0002067 | Bradykinesia | 1 | FTL CL E G H | 2512 | 3999 | OMIM:606159 | Neurodegeneration with brain iron accumulation 3 | | | | 33 | | |
HP:0002071 | HP:0001300 | Parkinsonism | 1 | FTL CL E G H | 2512 | 3999 | ORPHA:157846 | Neuroferritinopathy | HP:0040283 - Occasional | | | 33 | | |
HP:0002071 | HP:0002067 | Bradykinesia | 1 | FTL CL E G H | 2512 | 3999 | ORPHA:157846 | Neuroferritinopathy | HP:0040282 - Frequent | | | 33 | | |
HP:0002071 | HP:0001300 | Parkinsonism | 1 | FUS CL E G H | 2521 | 4010 | ORPHA:275872 | Frontotemporal dementia with motor neuron disease | HP:0040282 - Frequent | | | 105 | | |
HP:0002071 | HP:0001300 | Parkinsonism | 1 | FUS CL E G H | 2521 | 4010 | ORPHA:300605 | Juvenile amyotrophic lateral sclerosis | HP:0040283 - Occasional | | | 105 | | |
HP:0002071 | HP:0001300 | Parkinsonism | 1 | GABRA1 CL E G H | 2554 | 4075 | ORPHA:33069 | Dravet syndrome | HP:0040282 - Frequent | | | 134 | | |
HP:0002071 | HP:0002067 | Bradykinesia | 1 | GABRA1 CL E G H | 2554 | 4075 | ORPHA:33069 | Dravet syndrome | HP:0040282 - Frequent | | | 134 | | |
HP:0002071 | HP:0002067 | Bradykinesia | 1 | GABRD CL E G H | 2563 | 4084 | ORPHA:36387 | Generalized epilepsy with febrile seizures-plus | HP:0040284 - Very rare | | | 10 | | |
HP:0002071 | HP:0001300 | Parkinsonism | 1 | GABRG2 CL E G H | 2566 | 4087 | ORPHA:33069 | Dravet syndrome | HP:0040282 - Frequent | | | 139 | | |
HP:0002071 | HP:0002067 | Bradykinesia | 1 | GABRG2 CL E G H | 2566 | 4087 | ORPHA:33069 | Dravet syndrome | HP:0040282 - Frequent | | | 139 | | |
HP:0002071 | HP:0002067 | Bradykinesia | 1 | GABRG2 CL E G H | 2566 | 4087 | ORPHA:36387 | Generalized epilepsy with febrile seizures-plus | HP:0040284 - Very rare | | | 139 | | |
HP:0002071 | HP:0007153 | Progressive extrapyramidal movement disorder | 1 | GAMT CL E G H | 2593 | 4136 | OMIM:612736 | Cerebral creatine deficiency syndrome 2 | . | | | 91 | | |
HP:0002071 | HP:0007153 | Progressive extrapyramidal movement disorder | 1 | GAMT CL E G H | 2593 | 4136 | ORPHA:382 | Guanidinoacetate methyltransferase deficiency | HP:0040282 - Frequent | | | 91 | | |
HP:0002071 | HP:0001300 | Parkinsonism | 1 | GBA1 CL E G H | 2629 | 4177 | OMIM:127750 | Dementia, lewy body | . | | | | | |
HP:0002071 | HP:0002067 | Bradykinesia | 1 | GBA1 CL E G H | 2629 | 4177 | ORPHA:411602 | Hereditary late-onset Parkinson disease | HP:0040283 - Occasional | | | | | |
HP:0002071 | HP:0001300 | Parkinsonism | 1 | GBA1 CL E G H | 2629 | 4177 | ORPHA:411602 | Hereditary late-onset Parkinson disease | HP:0040280 - Obligate | | | | | |
HP:0002071 | HP:0002067 | Bradykinesia | 1 | GBA1 CL E G H | 2629 | 4177 | OMIM:168600 | Parkinson disease, late-onset | . | | | | | |
HP:0002071 | HP:0001300 | Parkinsonism | 1 | GBA1 CL E G H | 2629 | 4177 | OMIM:168600 | Parkinson disease, late-onset | . | | | | | |
HP:0002071 | HP:0002067 | Bradykinesia | 1 | GCH1 CL E G H | 2643 | 4193 | ORPHA:98808 | Autosomal dominant dopa-responsive dystonia | HP:0040283 - Occasional | | | 86 | | |
HP:0002071 | HP:0001300 | Parkinsonism | 1 | GCH1 CL E G H | 2643 | 4193 | ORPHA:98808 | Autosomal dominant dopa-responsive dystonia | HP:0040282 - Frequent | | | 86 | | |
HP:0002071 | HP:0001300 | Parkinsonism | 1 | GCH1 CL E G H | 2643 | 4193 | OMIM:128230 | Dystonia, DOPA-responsive, with or without hyperphenylalaninemia | | | | 86 | | |
HP:0002071 | HP:0002067 | Bradykinesia | 1 | GCH1 CL E G H | 2643 | 4193 | OMIM:128230 | Dystonia, DOPA-responsive, with or without hyperphenylalaninemia | | | | 86 | | |
HP:0002071 | HP:0002067 | Bradykinesia | 1 | GIGYF2 CL E G H | 26058 | 11960 | ORPHA:411602 | Hereditary late-onset Parkinson disease | HP:0040283 - Occasional | | | 8 | | |
HP:0002071 | HP:0001300 | Parkinsonism | 1 | GIGYF2 CL E G H | 26058 | 11960 | ORPHA:411602 | Hereditary late-onset Parkinson disease | HP:0040280 - Obligate | | | 8 | | |
HP:0002071 | HP:0002067 | Bradykinesia | 1 | GIGYF2 CL E G H | 26058 | 11960 | OMIM:607688 | PARKINSON DISEASE 11, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO; PARK11 | | | | 8 | | |
HP:0002071 | HP:0001300 | Parkinsonism | 1 | GIGYF2 CL E G H | 26058 | 11960 | OMIM:607688 | PARKINSON DISEASE 11, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO; PARK11 | | | | 8 | | |
HP:0002071 | HP:0002267 | Exaggerated startle response | 1 | GLB1 CL E G H | 2720 | 4298 | ORPHA:79255 | GM1 gangliosidosis type 1 | HP:0040282 - Frequent | | | 120 | | |
HP:0002071 | HP:0002267 | Exaggerated startle response | 1 | GLRA1 CL E G H | 2741 | 4326 | OMIM:149400 | Hyperekplexia 1 | . | | | 63 | | |
HP:0002071 | HP:0002267 | Exaggerated startle response | 1 | GLRB CL E G H | 2743 | 4329 | OMIM:614619 | Hyperekplexia 2 | . | | | 46 | | |
HP:0002071 | HP:0001300 | Parkinsonism | 1 | GLUD2 CL E G H | 2747 | 4336 | OMIM:168600 | Parkinson disease, late-onset | . | | | 1 | | |
HP:0002071 | HP:0002067 | Bradykinesia | 1 | GLUD2 CL E G H | 2747 | 4336 | OMIM:168600 | Parkinson disease, late-onset | . | | | 1 | | |
HP:0002071 | HP:0002267 | Exaggerated startle response | 1 | GM2A CL E G H | 2760 | 4367 | ORPHA:309246 | GM2 gangliosidosis, AB variant | HP:0040281 - Very frequent | | | 69 | | |
HP:0002071 | HP:0002267 | Exaggerated startle response | 1 | GM2A CL E G H | 2760 | 4367 | OMIM:272750 | Gm2-Gangliosidosis, ab variant | . | | | 69 | | |
HP:0002071 | HP:0002267 | Exaggerated startle response | 1 | GPHN CL E G H | 10243 | 15465 | OMIM:149400 | Hyperekplexia 1 | . | | | 18 | | |
HP:0002071 | HP:0001300 | Parkinsonism | 1 | GRN CL E G H | 2896 | 4601 | OMIM:607485 | Frontotemporal lobar degeneration with TDP43 inclusions | . | | | 126 | | |
HP:0002071 | HP:0001300 | Parkinsonism | 1 | GRN CL E G H | 2896 | 4601 | ORPHA:100070 | Progressive non-fluent aphasia | HP:0040283 - Occasional | | | 126 | | |
HP:0002071 | HP:0002067 | Bradykinesia | 1 | HCN1 CL E G H | 348980 | 4845 | ORPHA:36387 | Generalized epilepsy with febrile seizures-plus | HP:0040284 - Very rare | | | 54 | | |
HP:0002071 | HP:0002267 | Exaggerated startle response | 1 | HEXB CL E G H | 3074 | 4879 | OMIM:268800 | Sandhoff disease | | | | 80 | | |
HP:0002071 | HP:0002267 | Exaggerated startle response | 1 | HEXB CL E G H | 3074 | 4879 | ORPHA:309155 | Sandhoff disease, infantile form | | | | 80 | | |
HP:0002071 | HP:0001300 | Parkinsonism | 1 | HFE CL E G H | 3077 | 4886 | OMIM:104300 | Alzheimer disease | . | | | 38 | | |
HP:0002071 | HP:0007076 | Extrapyramidal muscular rigidity | 1 | HLA-DQB1 CL E G H | 3119 | 4944 | OMIM:123400 | Creutzfeldt-Jakob disease | . | | | | | |
HP:0002071 | HP:0001300 | Parkinsonism | 1 | HTRA2 CL E G H | 27429 | 14348 | OMIM:610297 | PARKINSON DISEASE 13, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO; PARK13 | | | | 39 | | |
HP:0002071 | HP:0002067 | Bradykinesia | 1 | HTRA2 CL E G H | 27429 | 14348 | OMIM:610297 | PARKINSON DISEASE 13, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO; PARK13 | | | | 39 | | |
HP:0002071 | HP:0002067 | Bradykinesia | 1 | HTRA2 CL E G H | 27429 | 14348 | ORPHA:2828 | Young-onset Parkinson disease | HP:0040283 - Occasional | | | 39 | | |
HP:0002071 | HP:0002067 | Bradykinesia | 1 | HTT CL E G H | 3064 | 4851 | OMIM:143100 | Huntington disease | . | | | 12 | | |
HP:0002071 | HP:0002067 | Bradykinesia | 1 | HTT CL E G H | 3064 | 4851 | ORPHA:399 | Huntington disease | HP:0040282 - Frequent | | | 12 | | |
HP:0002071 | HP:0002067 | Bradykinesia | 1 | HTT CL E G H | 3064 | 4851 | ORPHA:248111 | Juvenile Huntington disease | HP:0040282 - Frequent | | | 12 | | |
HP:0002071 | HP:0002067 | Bradykinesia | 1 | HTT CL E G H | 3064 | 4851 | OMIM:617435 | Lopes-Maciel-Rodan syndrome | . | | | 12 | | |
HP:0002071 | HP:0007076 | Extrapyramidal muscular rigidity | 1 | IFIH1 CL E G H | 64135 | 18873 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040282 - Frequent | | | 28 | | |
HP:0002071 | HP:0002067 | Bradykinesia | 1 | IMPDH2 CL E G H | 3615 | 6053 | ORPHA:98808 | Autosomal dominant dopa-responsive dystonia | HP:0040283 - Occasional | | | 1 | | |
HP:0002071 | HP:0001300 | Parkinsonism | 1 | IMPDH2 CL E G H | 3615 | 6053 | ORPHA:98808 | Autosomal dominant dopa-responsive dystonia | HP:0040282 - Frequent | | | 1 | | |
HP:0002071 | HP:0002067 | Bradykinesia | 1 | JAM2 CL E G H | 58494 | 14686 | OMIM:618824 | BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 8, AUTOSOMAL RECESSIVE; IBGC8 | | | | | | |
HP:0002071 | HP:0001300 | Parkinsonism | 1 | JAM2 CL E G H | 58494 | 14686 | OMIM:618824 | BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 8, AUTOSOMAL RECESSIVE; IBGC8 | | | | | | |
HP:0002071 | HP:0002067 | Bradykinesia | 1 | JPH3 CL E G H | 57338 | 14203 | OMIM:606438 | Huntington disease-like 2 | . | | | 2 | | |
HP:0002071 | HP:0001300 | Parkinsonism | 1 | JPH3 CL E G H | 57338 | 14203 | ORPHA:98934 | Huntington disease-like 2 | HP:0040283 - Occasional | | | 2 | | |
HP:0002071 | HP:0002067 | Bradykinesia | 1 | KBTBD13 CL E G H | 390594 | 37227 | ORPHA:171439 | Childhood-onset nemaline myopathy | HP:0040282 - Frequent | | | 80 | | |
HP:0002071 | HP:0002067 | Bradykinesia | 1 | KCNC3 CL E G H | 3748 | 6235 | ORPHA:98768 | Spinocerebellar ataxia type 13 | HP:0040284 - Very rare | | | 17 | | |
HP:0002071 | HP:0001300 | Parkinsonism | 1 | KCNN2 CL E G H | 3781 | 6291 | OMIM:619725 | NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE MOVEMENT OR BEHAVIORAL ABNORMALITIES; NEDMAB | | | | | | |
HP:0002071 | HP:0002067 | Bradykinesia | 1 | KCNN2 CL E G H | 3781 | 6291 | OMIM:619725 | NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE MOVEMENT OR BEHAVIORAL ABNORMALITIES; NEDMAB | | | | | | |
HP:0002071 | HP:0001300 | Parkinsonism | 1 | KIF5A CL E G H | 3798 | 6323 | ORPHA:100991 | Autosomal dominant spastic paraplegia type 10 | HP:0040284 - Very rare | | | 93 | | |
HP:0002071 | HP:0001300 | Parkinsonism | 1 | KIF5A CL E G H | 3798 | 6323 | OMIM:604187 | Spastic paraplegia 10, autosomal dominant | HP:0040283 - Occasional | | | 93 | | |
HP:0002071 | HP:0002267 | Exaggerated startle response | 1 | KLC2 CL E G H | 64837 | 20716 | OMIM:609541 | Spastic paraplegia, optic atrophy, and neuropathy | . | | | 1 | | |
HP:0002071 | HP:0002267 | Exaggerated startle response | 1 | KLC2 CL E G H | 64837 | 20716 | ORPHA:320406 | Spastic paraplegia-optic atrophy-neuropathy syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0002071 | HP:0002067 | Bradykinesia | 1 | KLHL41 CL E G H | 10324 | 16905 | ORPHA:171439 | Childhood-onset nemaline myopathy | HP:0040282 - Frequent | | | 13 | | |
HP:0002071 | HP:0002067 | Bradykinesia | 1 | LRRK2 CL E G H | 120892 | 18618 | ORPHA:411602 | Hereditary late-onset Parkinson disease | HP:0040283 - Occasional | | | 221 | | |
HP:0002071 | HP:0001300 | Parkinsonism | 1 | LRRK2 CL E G H | 120892 | 18618 | ORPHA:411602 | Hereditary late-onset Parkinson disease | HP:0040280 - Obligate | | | 221 | | |
HP:0002071 | HP:0001300 | Parkinsonism | 1 | LRRK2 CL E G H | 120892 | 18618 | OMIM:607060 | Parkinson disease 8, autosomal dominant | . | | | 221 | | |
HP:0002071 | HP:0002067 | Bradykinesia | 1 | LRRK2 CL E G H | 120892 | 18618 | OMIM:607060 | Parkinson disease 8, autosomal dominant | . | | | 221 | | |
HP:0002071 | HP:0002067 | Bradykinesia | 1 | LRRK2 CL E G H | 120892 | 18618 | ORPHA:2828 | Young-onset Parkinson disease | HP:0040283 - Occasional | | | 221 | | |
HP:0002071 | HP:0007076 | Extrapyramidal muscular rigidity | 1 | LSM11 CL E G H | 134353 | 30860 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040282 - Frequent | | | | | |
HP:0002071 | HP:0001300 | Parkinsonism | 1 | LYST CL E G H | 1130 | 1968 | ORPHA:167 | Chédiak-Higashi syndrome | HP:0040283 - Occasional | | | 239 | | |
HP:0002071 | HP:0002067 | Bradykinesia | 1 | MAPT CL E G H | 4137 | 6893 | ORPHA:240071 | Classic progressive supranuclear palsy syndrome | HP:0040282 - Frequent | | | 140 | | |
HP:0002071 | HP:0001300 | Parkinsonism | 1 | MAPT CL E G H | 4137 | 6893 | ORPHA:240071 | Classic progressive supranuclear palsy syndrome | HP:0040282 - Frequent | | | 140 | | |
HP:0002071 | HP:0007076 | Extrapyramidal muscular rigidity | 1 | MAPT CL E G H | 4137 | 6893 | ORPHA:240071 | Classic progressive supranuclear palsy syndrome | | | | 140 | | |
HP:0002071 | HP:0001300 | Parkinsonism | 1 | MAPT CL E G H | 4137 | 6893 | OMIM:600274 | Frontotemporal dementia | . | | | 140 | | |
HP:0002071 | HP:0001300 | Parkinsonism | 1 | MAPT CL E G H | 4137 | 6893 | OMIM:168600 | Parkinson disease, late-onset | . | | | 140 | | |
HP:0002071 | HP:0002067 | Bradykinesia | 1 | MAPT CL E G H | 4137 | 6893 | OMIM:168600 | Parkinson disease, late-onset | . | | | 140 | | |
HP:0002071 | HP:0001300 | Parkinsonism | 1 | MAPT CL E G H | 4137 | 6893 | ORPHA:100070 | Progressive non-fluent aphasia | HP:0040283 - Occasional | | | 140 | | |
HP:0002071 | HP:0001300 | Parkinsonism | 1 | MAPT CL E G H | 4137 | 6893 | ORPHA:240103 | Progressive supranuclear palsy-corticobasal syndrome | | | | 140 | | |
HP:0002071 | HP:0007076 | Extrapyramidal muscular rigidity | 1 | MAPT CL E G H | 4137 | 6893 | ORPHA:240103 | Progressive supranuclear palsy-corticobasal syndrome | | | | 140 | | |
HP:0002071 | HP:0002067 | Bradykinesia | 1 | MAPT CL E G H | 4137 | 6893 | ORPHA:240103 | Progressive supranuclear palsy-corticobasal syndrome | HP:0040280 - Obligate | | | 140 | | |
HP:0002071 | HP:0001300 | Parkinsonism | 1 | MAPT CL E G H | 4137 | 6893 | ORPHA:240085 | Progressive supranuclear palsy-parkinsonism syndrome | | | | 140 | | |
HP:0002071 | HP:0002067 | Bradykinesia | 1 | MAPT CL E G H | 4137 | 6893 | ORPHA:240085 | Progressive supranuclear palsy-parkinsonism syndrome | HP:0040282 - Frequent | | | 140 | | |
HP:0002071 | HP:0001300 | Parkinsonism | 1 | MAPT CL E G H | 4137 | 6893 | ORPHA:240112 | Progressive supranuclear palsy-progressive non-fluent aphasia syndrome | HP:0040283 - Occasional | | | 140 | | |
HP:0002071 | HP:0007076 | Extrapyramidal muscular rigidity | 1 | MAPT CL E G H | 4137 | 6893 | ORPHA:240112 | Progressive supranuclear palsy-progressive non-fluent aphasia syndrome | | | | 140 | | |
HP:0002071 | HP:0001300 | Parkinsonism | 1 | MAPT CL E G H | 4137 | 6893 | OMIM:260540 | Supranuclear palsy, progressive atypical | . | | | 140 | | |
HP:0002071 | HP:0001300 | Parkinsonism | 1 | MAPT CL E G H | 4137 | 6893 | OMIM:601104 | Supranuclear palsy, progressive, 1 | . | | | 140 | | |
HP:0002071 | HP:0002067 | Bradykinesia | 1 | MAPT CL E G H | 4137 | 6893 | OMIM:601104 | Supranuclear palsy, progressive, 1 | . | | | 140 | | |
HP:0002071 | HP:0001300 | Parkinsonism | 1 | MECP2 CL E G H | 4204 | 6990 | OMIM:300055 | Mental retardation, X-linked, syndromic 13 | . | | | 950 | | |
HP:0002071 | HP:0002067 | Bradykinesia | 1 | MECP2 CL E G H | 4204 | 6990 | OMIM:300055 | Mental retardation, X-linked, syndromic 13 | | | | 950 | | |
HP:0002071 | HP:0002067 | Bradykinesia | 1 | MECP2 CL E G H | 4204 | 6990 | ORPHA:778 | Rett syndrome | HP:0040282 - Frequent | | | 950 | | |
HP:0002071 | HP:0001300 | Parkinsonism | 1 | MECP2 CL E G H | 4204 | 6990 | ORPHA:3077 | X-linked intellectual disability-psychosis-macroorchidism syndrome | HP:0040283 - Occasional | | | 950 | | |
HP:0002071 | HP:0007153 | Progressive extrapyramidal movement disorder | 1 | MICU1 CL E G H | 10367 | 1530 | ORPHA:401768 | Proximal myopathy with extrapyramidal signs | HP:0040282 - Frequent | | | 14 | | |
HP:0002071 | HP:0007076 | Extrapyramidal muscular rigidity | 1 | MICU1 CL E G H | 10367 | 1530 | ORPHA:401768 | Proximal myopathy with extrapyramidal signs | | | | 14 | | |
HP:0002071 | HP:0001300 | Parkinsonism | 1 | MPO CL E G H | 4353 | 7218 | OMIM:104300 | Alzheimer disease | . | | | 11 | | |
HP:0002071 | HP:0002267 | Exaggerated startle response | 1 | MTHFS CL E G H | 10588 | 7437 | OMIM:618367 | Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination | . | | | | | |
HP:0002071 | HP:0002067 | Bradykinesia | 1 | MYORG CL E G H | 57462 | 19918 | OMIM:618317 | Basal ganglia calcification, idiopathic, 7, autosomal recessive | . | | | | | |
HP:0002071 | HP:0001300 | Parkinsonism | 1 | MYORG CL E G H | 57462 | 19918 | OMIM:618317 | Basal ganglia calcification, idiopathic, 7, autosomal recessive | . | | | | | |
HP:0002071 | HP:0002067 | Bradykinesia | 1 | MYPN CL E G H | 84665 | 23246 | ORPHA:171439 | Childhood-onset nemaline myopathy | HP:0040282 - Frequent | | | 217 | | |
HP:0002071 | HP:0002067 | Bradykinesia | 1 | NEB CL E G H | 4703 | 7720 | ORPHA:171439 | Childhood-onset nemaline myopathy | HP:0040282 - Frequent | | | 745 | | |
HP:0002071 | HP:0001300 | Parkinsonism | 1 | NOS3 CL E G H | 4846 | 7876 | OMIM:104300 | Alzheimer disease | . | | | 8 | | |
HP:0002071 | HP:0001300 | Parkinsonism | 1 | NOTCH3 CL E G H | 4854 | 7883 | ORPHA:136 | Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy | HP:0040283 - Occasional | | | 144 | | |
HP:0002071 | HP:0002067 | Bradykinesia | 1 | NR4A2 CL E G H | 4929 | 7981 | OMIM:619911 | | | | | 27 | | |
HP:0002071 | HP:0001300 | Parkinsonism | 1 | NR4A2 CL E G H | 4929 | 7981 | OMIM:619911 | | | | | 27 | | |
HP:0002071 | HP:0001300 | Parkinsonism | 1 | NR4A2 CL E G H | 4929 | 7981 | ORPHA:98808 | Autosomal dominant dopa-responsive dystonia | HP:0040282 - Frequent | | | 27 | | |
HP:0002071 | HP:0002067 | Bradykinesia | 1 | NR4A2 CL E G H | 4929 | 7981 | ORPHA:98808 | Autosomal dominant dopa-responsive dystonia | HP:0040283 - Occasional | | | 27 | | |
HP:0002071 | HP:0001300 | Parkinsonism | 1 | NR4A2 CL E G H | 4929 | 7981 | OMIM:168600 | Parkinson disease, late-onset | . | | | 27 | | |
HP:0002071 | HP:0002067 | Bradykinesia | 1 | NR4A2 CL E G H | 4929 | 7981 | OMIM:168600 | Parkinson disease, late-onset | . | | | 27 | | |
HP:0002071 | HP:0007076 | Extrapyramidal muscular rigidity | 1 | OPA3 CL E G H | 80207 | 8142 | ORPHA:67036 | Autosomal dominant optic atrophy and cataract | HP:0040283 - Occasional | | | 163 | | |
HP:0002071 | HP:0001300 | Parkinsonism | 1 | PANK2 CL E G H | 80025 | 15894 | ORPHA:216873 | Atypical pantothenate kinase-associated neurodegeneration | HP:0040282 - Frequent | | | 55 | | |
HP:0002071 | HP:0001300 | Parkinsonism | 1 | PANK2 CL E G H | 80025 | 15894 | OMIM:234200 | Neurodegeneration with brain iron accumulation 1 | . | | | 55 | | |
HP:0002071 | HP:0002067 | Bradykinesia | 1 | PANK2 CL E G H | 80025 | 15894 | OMIM:234200 | Neurodegeneration with brain iron accumulation 1 | . | | | 55 | | |
HP:0002071 | HP:0001300 | Parkinsonism | 1 | PARK7 CL E G H | 11315 | 16369 | OMIM:606324 | PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET; PARK7 | | | | 23 | | |
HP:0002071 | HP:0002067 | Bradykinesia | 1 | PARK7 CL E G H | 11315 | 16369 | OMIM:606324 | PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET; PARK7 | | | | 23 | | |
HP:0002071 | HP:0002067 | Bradykinesia | 1 | PARK7 CL E G H | 11315 | 16369 | ORPHA:2828 | Young-onset Parkinson disease | HP:0040283 - Occasional | | | 23 | | |
HP:0002071 | HP:0001300 | Parkinsonism | 1 | PCBD1 CL E G H | 5092 | 8646 | ORPHA:1578 | Pterin-4 alpha-carbinolamine dehydratase deficiency | HP:0040284 - Very rare | | | 24 | | |
HP:0002071 | HP:0002067 | Bradykinesia | 1 | PCDH19 CL E G H | 57526 | 14270 | ORPHA:33069 | Dravet syndrome | HP:0040282 - Frequent | | | 225 | | |
HP:0002071 | HP:0001300 | Parkinsonism | 1 | PCDH19 CL E G H | 57526 | 14270 | ORPHA:33069 | Dravet syndrome | HP:0040282 - Frequent | | | 225 | | |
HP:0002071 | HP:0001300 | Parkinsonism | 1 | PDE10A CL E G H | 10846 | 8772 | ORPHA:494541 | Childhood-onset benign chorea with striatal involvement | | | | 5 | | |
HP:0002071 | HP:0001300 | Parkinsonism | 1 | PDE10A CL E G H | 10846 | 8772 | OMIM:616922 | Striatal degeneration, autosomal dominant 2 | | | | 5 | | |
HP:0002071 | HP:0002067 | Bradykinesia | 1 | PDE8B CL E G H | 8622 | 8794 | ORPHA:228169 | Autosomal dominant striatal neurodegeneration | HP:0040281 - Very frequent | | | 75 | | |
HP:0002071 | HP:0002067 | Bradykinesia | 1 | PDE8B CL E G H | 8622 | 8794 | OMIM:609161 | Striatal degeneration, autosomal dominant | . | | | 75 | | |
HP:0002071 | HP:0001300 | Parkinsonism | 1 | PDGFB CL E G H | 5155 | 8800 | OMIM:213600 | Basal ganglia calcification, idiopathic, 1 | . | | | 9 | | |
HP:0002071 | HP:0002067 | Bradykinesia | 1 | PDGFB CL E G H | 5155 | 8800 | OMIM:213600 | Basal ganglia calcification, idiopathic, 1 | . | | | 9 | | |
HP:0002071 | HP:0001300 | Parkinsonism | 1 | PDGFB CL E G H | 5155 | 8800 | OMIM:615483 | Basal ganglia calcification, idiopathic, 5 | . | | | 9 | | |
HP:0002071 | HP:0001300 | Parkinsonism | 1 | PDGFRB CL E G H | 5159 | 8804 | OMIM:213600 | Basal ganglia calcification, idiopathic, 1 | . | | | 28 | | |
HP:0002071 | HP:0002067 | Bradykinesia | 1 | PDGFRB CL E G H | 5159 | 8804 | OMIM:213600 | Basal ganglia calcification, idiopathic, 1 | . | | | 28 | | |
HP:0002071 | HP:0001300 | Parkinsonism | 1 | PDGFRB CL E G H | 5159 | 8804 | OMIM:615007 | Basal ganglia calcification, idiopathic, 4 | HP:0040283 - Occasional | | | 28 | | |
HP:0002071 | HP:0002067 | Bradykinesia | 1 | PET117 CL E G H | 100303755 | 40045 | OMIM:619063 | MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 19; MC4DN19 | | | | | | |
HP:0002071 | HP:0002067 | Bradykinesia | 1 | PIDD1 CL E G H | 55367 | 16491 | OMIM:619827 | INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 75, WITH NEUROPSYCHIATRIC FEATURES AND VARIANT LISSENCEPHALY; MRT75 | | | | | | |
HP:0002071 | HP:0002067 | Bradykinesia | 1 | PINK1 CL E G H | 65018 | 14581 | OMIM:605909 | Parkinson disease 6, autosomal recessive early-onset | . | | | 55 | | |
HP:0002071 | HP:0001300 | Parkinsonism | 1 | PINK1 CL E G H | 65018 | 14581 | OMIM:605909 | Parkinson disease 6, autosomal recessive early-onset | . | | | 55 | | |
HP:0002071 | HP:0002067 | Bradykinesia | 1 | PINK1 CL E G H | 65018 | 14581 | ORPHA:2828 | Young-onset Parkinson disease | HP:0040283 - Occasional | | | 55 | | |
HP:0002071 | HP:0001300 | Parkinsonism | 1 | PLA2G6 CL E G H | 8398 | 9039 | ORPHA:199351 | Adult-onset dystonia-parkinsonism | | | | 133 | | |
HP:0002071 | HP:0007153 | Progressive extrapyramidal movement disorder | 1 | PLA2G6 CL E G H | 8398 | 9039 | ORPHA:199351 | Adult-onset dystonia-parkinsonism | HP:0040282 - Frequent | | | 133 | | |
HP:0002071 | HP:0002067 | Bradykinesia | 1 | PLA2G6 CL E G H | 8398 | 9039 | ORPHA:199351 | Adult-onset dystonia-parkinsonism | HP:0040282 - Frequent | | | 133 | | |
HP:0002071 | HP:0002067 | Bradykinesia | 1 | PLA2G6 CL E G H | 8398 | 9039 | OMIM:610217 | Neurodegeneration with brain iron accumulation 2B | . | | | 133 | | |
HP:0002071 | HP:0002067 | Bradykinesia | 1 | PLA2G6 CL E G H | 8398 | 9039 | OMIM:612953 | Parkinson disease 14, autosomal recessive | . | | | 133 | | |
HP:0002071 | HP:0001300 | Parkinsonism | 1 | PLA2G6 CL E G H | 8398 | 9039 | OMIM:612953 | Parkinson disease 14, autosomal recessive | . | | | 133 | | |
HP:0002071 | HP:0002267 | Exaggerated startle response | 1 | PLAA CL E G H | 9373 | 9043 | OMIM:617527 | Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies | | | | 3 | | |
HP:0002071 | HP:0002267 | Exaggerated startle response | 1 | PLAA CL E G H | 9373 | 9043 | ORPHA:521426 | PLAA-associated neurodevelopmental disorder | HP:0040282 - Frequent | | | 3 | | |
HP:0002071 | HP:0001300 | Parkinsonism | 1 | PLAU CL E G H | 5328 | 9052 | OMIM:104300 | Alzheimer disease | . | | | 50 | | |
HP:0002071 | HP:0002067 | Bradykinesia | 1 | PODXL CL E G H | 5420 | 9171 | ORPHA:391411 | Atypical juvenile parkinsonism | HP:0040281 - Very frequent | | | 6 | | |
HP:0002071 | HP:0002067 | Bradykinesia | 1 | PODXL CL E G H | 5420 | 9171 | ORPHA:2828 | Young-onset Parkinson disease | HP:0040283 - Occasional | | | 6 | | |
HP:0002071 | HP:0002067 | Bradykinesia | 1 | POLG CL E G H | 5428 | 9179 | ORPHA:254892 | Autosomal dominant progressive external ophthalmoplegia | HP:0040282 - Frequent | | | 464 | | |
HP:0002071 | HP:0001300 | Parkinsonism | 1 | POLG CL E G H | 5428 | 9179 | ORPHA:254886 | Autosomal recessive progressive external ophthalmoplegia | | | | 464 | | |
HP:0002071 | HP:0002067 | Bradykinesia | 1 | POLG CL E G H | 5428 | 9179 | ORPHA:254886 | Autosomal recessive progressive external ophthalmoplegia | HP:0040283 - Occasional | | | 464 | | |
HP:0002071 | HP:0002067 | Bradykinesia | 1 | POLG CL E G H | 5428 | 9179 | OMIM:157640 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 | . | | | 464 | | |
HP:0002071 | HP:0001300 | Parkinsonism | 1 | POLG CL E G H | 5428 | 9179 | OMIM:157640 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 | . | | | 464 | | |
HP:0002071 | HP:0001300 | Parkinsonism | 1 | POLG CL E G H | 5428 | 9179 | OMIM:258450 | Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive | . | | | 464 | | |
HP:0002071 | HP:0002067 | Bradykinesia | 1 | POLG CL E G H | 5428 | 9179 | OMIM:258450 | Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive | . | | | 464 | | |
HP:0002071 | HP:0002067 | Bradykinesia | 1 | POLG2 CL E G H | 11232 | 9180 | ORPHA:254892 | Autosomal dominant progressive external ophthalmoplegia | HP:0040282 - Frequent | | | 45 | | |
HP:0002071 | HP:0001300 | Parkinsonism | 1 | PPP2R2B CL E G H | 5521 | 9305 | OMIM:604326 | Spinocerebellar ataxia 12 | . | | | 5 | | |
HP:0002071 | HP:0001300 | Parkinsonism | 1 | PPP2R2B CL E G H | 5521 | 9305 | ORPHA:98762 | Spinocerebellar ataxia type 12 | HP:0040282 - Frequent | | | 5 | | |
HP:0002071 | HP:0002067 | Bradykinesia | 1 | PPP2R2B CL E G H | 5521 | 9305 | ORPHA:98762 | Spinocerebellar ataxia type 12 | HP:0040283 - Occasional | | | 5 | | |
HP:0002071 | HP:0002067 | Bradykinesia | 1 | PRDX3 CL E G H | 10935 | 9354 | OMIM:619862 | | | | | | | |
HP:0002071 | HP:0001300 | Parkinsonism | 1 | PRKAR1B CL E G H | 5575 | 9390 | ORPHA:412066 | PRKAR1B-related neurodegenerative dementia with intermediate filaments | HP:0040282 - Frequent | | | 2 | | |
HP:0002071 | HP:0002067 | Bradykinesia | 1 | PRKAR1B CL E G H | 5575 | 9390 | ORPHA:412066 | PRKAR1B-related neurodegenerative dementia with intermediate filaments | HP:0040282 - Frequent | | | 2 | | |
HP:0002071 | HP:0002067 | Bradykinesia | 1 | PRKN CL E G H | 5071 | 8607 | OMIM:600116 | Parkinson disease, juvenile, type 2 | | | | 138 | | |
HP:0002071 | HP:0001300 | Parkinsonism | 1 | PRKN CL E G H | 5071 | 8607 | OMIM:600116 | Parkinson disease, juvenile, type 2 | | | | 138 | | |
HP:0002071 | HP:0002067 | Bradykinesia | 1 | PRKN CL E G H | 5071 | 8607 | ORPHA:2828 | Young-onset Parkinson disease | HP:0040283 - Occasional | | | 138 | | |
HP:0002071 | HP:0001300 | Parkinsonism | 1 | PRKRA CL E G H | 8575 | 9438 | ORPHA:210571 | Dystonia 16 | HP:0040282 - Frequent | | | 37 | | |
HP:0002071 | HP:0002067 | Bradykinesia | 1 | PRKRA CL E G H | 8575 | 9438 | OMIM:612067 | Dystonia 16 | . | | | 37 | | |
HP:0002071 | HP:0001300 | Parkinsonism | 1 | PRKRA CL E G H | 8575 | 9438 | OMIM:612067 | Dystonia 16 | . | | | 37 | | |
HP:0002071 | HP:0002067 | Bradykinesia | 1 | PRKRA CL E G H | 8575 | 9438 | ORPHA:210571 | Dystonia 16 | HP:0040282 - Frequent | | | 37 | | |
HP:0002071 | HP:0007076 | Extrapyramidal muscular rigidity | 1 | PRNP CL E G H | 5621 | 9449 | OMIM:123400 | Creutzfeldt-Jakob disease | . | | | 69 | | |
HP:0002071 | HP:0002067 | Bradykinesia | 1 | PRNP CL E G H | 5621 | 9449 | OMIM:137440 | Gerstmann-Straussler disease | . | | | 69 | | |
HP:0002071 | HP:0001300 | Parkinsonism | 1 | PRNP CL E G H | 5621 | 9449 | OMIM:137440 | Gerstmann-Straussler disease | . | | | 69 | | |
HP:0002071 | HP:0002067 | Bradykinesia | 1 | PRNP CL E G H | 5621 | 9449 | ORPHA:157941 | Huntington disease-like 1 | HP:0040283 - Occasional | | | 69 | | |
HP:0002071 | HP:0002067 | Bradykinesia | 1 | PRNP CL E G H | 5621 | 9449 | ORPHA:282166 | Inherited Creutzfeldt-Jakob disease | HP:0040282 - Frequent | | | 69 | | |
HP:0002071 | HP:0007076 | Extrapyramidal muscular rigidity | 1 | PRNP CL E G H | 5621 | 9449 | ORPHA:282166 | Inherited Creutzfeldt-Jakob disease | | | | 69 | | |
HP:0002071 | HP:0001300 | Parkinsonism | 1 | PSAP CL E G H | 5660 | 9498 | OMIM:619491 | PARKINSON DISEASE 24, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO; PARK24 | | | | 81 | | |
HP:0002071 | HP:0001300 | Parkinsonism | 1 | PSEN1 CL E G H | 5663 | 9508 | ORPHA:1020 | Early-onset autosomal dominant Alzheimer disease | HP:0040281 - Very frequent | | | 241 | | |
HP:0002071 | HP:0001300 | Parkinsonism | 1 | PSEN1 CL E G H | 5663 | 9508 | OMIM:600274 | Frontotemporal dementia | . | | | 241 | | |
HP:0002071 | HP:0001300 | Parkinsonism | 1 | PSEN1 CL E G H | 5663 | 9508 | ORPHA:100070 | Progressive non-fluent aphasia | HP:0040283 - Occasional | | | 241 | | |
HP:0002071 | HP:0001300 | Parkinsonism | 1 | PSEN2 CL E G H | 5664 | 9509 | ORPHA:1020 | Early-onset autosomal dominant Alzheimer disease | HP:0040281 - Very frequent | | | 59 | | |
HP:0002071 | HP:0002067 | Bradykinesia | 1 | PTS CL E G H | 5805 | 9689 | ORPHA:13 | 6-pyruvoyl-tetrahydropterin synthase deficiency | HP:0040283 - Occasional | | | 19 | | |
HP:0002071 | HP:0001300 | Parkinsonism | 1 | PTS CL E G H | 5805 | 9689 | OMIM:261640 | Hyperphenylalaninemia, BH4-deficient, A | . | | | 19 | | |
HP:0002071 | HP:0002067 | Bradykinesia | 1 | PTS CL E G H | 5805 | 9689 | OMIM:261640 | Hyperphenylalaninemia, BH4-deficient, A | . | | | 19 | | |
HP:0002071 | HP:0002267 | Exaggerated startle response | 1 | PURA CL E G H | 5813 | 9701 | ORPHA:438216 | PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation | HP:0040283 - Occasional | | | 53 | | |
HP:0002071 | HP:0002067 | Bradykinesia | 1 | RAB39B CL E G H | 116442 | 16499 | OMIM:311510 | Waisman syndrome | . | | | 34 | | |
HP:0002071 | HP:0001300 | Parkinsonism | 1 | RAB39B CL E G H | 116442 | 16499 | OMIM:311510 | Waisman syndrome | . | | | 34 | | |
HP:0002071 | HP:0007153 | Progressive extrapyramidal movement disorder | 1 | RARS1 CL E G H | 5917 | 9870 | ORPHA:438114 | RARS-related autosomal recessive hypomyelinating leukodystrophy | HP:0040282 - Frequent | | | | | |
HP:0002071 | HP:0011445 | Athetoid cerebral palsy | 1 | RBM10 CL E G H | 8241 | 9896 | ORPHA:2886 | TARP syndrome | HP:0040284 - Very rare | | | 16 | | |
HP:0002071 | HP:0007076 | Extrapyramidal muscular rigidity | 1 | RNASEH2A CL E G H | 10535 | 18518 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040282 - Frequent | | | 33 | | |
HP:0002071 | HP:0007076 | Extrapyramidal muscular rigidity | 1 | RNASEH2B CL E G H | 79621 | 25671 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040282 - Frequent | | | 34 | | |
HP:0002071 | HP:0007076 | Extrapyramidal muscular rigidity | 1 | RNASEH2C CL E G H | 84153 | 24116 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040282 - Frequent | | | 60 | | |
HP:0002071 | HP:0007076 | Extrapyramidal muscular rigidity | 1 | RNU7-1 CL E G H | 100147744 | 34033 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040282 - Frequent | | | | | |
HP:0002071 | HP:0002067 | Bradykinesia | 1 | RRM2B CL E G H | 50484 | 17296 | ORPHA:254892 | Autosomal dominant progressive external ophthalmoplegia | HP:0040282 - Frequent | | | 125 | | |
HP:0002071 | HP:0007076 | Extrapyramidal muscular rigidity | 1 | SAMHD1 CL E G H | 25939 | 15925 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040282 - Frequent | | | 55 | | |
HP:0002071 | HP:0002067 | Bradykinesia | 1 | SCN1A CL E G H | 6323 | 10585 | ORPHA:33069 | Dravet syndrome | HP:0040282 - Frequent | | | 1053 | | |
HP:0002071 | HP:0001300 | Parkinsonism | 1 | SCN1A CL E G H | 6323 | 10585 | ORPHA:33069 | Dravet syndrome | HP:0040282 - Frequent | | | 1053 | | |
HP:0002071 | HP:0002067 | Bradykinesia | 1 | SCN1A CL E G H | 6323 | 10585 | ORPHA:36387 | Generalized epilepsy with febrile seizures-plus | HP:0040284 - Very rare | | | 1053 | | |
HP:0002071 | HP:0002067 | Bradykinesia | 1 | SCN1B CL E G H | 6324 | 10586 | ORPHA:33069 | Dravet syndrome | HP:0040282 - Frequent | | | 126 | | |
HP:0002071 | HP:0001300 | Parkinsonism | 1 | SCN1B CL E G H | 6324 | 10586 | ORPHA:33069 | Dravet syndrome | HP:0040282 - Frequent | | | 126 | | |
HP:0002071 | HP:0002067 | Bradykinesia | 1 | SCN1B CL E G H | 6324 | 10586 | ORPHA:36387 | Generalized epilepsy with febrile seizures-plus | HP:0040284 - Very rare | | | 126 | | |
HP:0002071 | HP:0001300 | Parkinsonism | 1 | SCN2A CL E G H | 6326 | 10588 | ORPHA:33069 | Dravet syndrome | HP:0040282 - Frequent | | | 427 | | |
HP:0002071 | HP:0002067 | Bradykinesia | 1 | SCN2A CL E G H | 6326 | 10588 | ORPHA:33069 | Dravet syndrome | HP:0040282 - Frequent | | | 427 | | |
HP:0002071 | HP:0002067 | Bradykinesia | 1 | SCN2A CL E G H | 6326 | 10588 | ORPHA:36387 | Generalized epilepsy with febrile seizures-plus | HP:0040284 - Very rare | | | 427 | | |
HP:0002071 | HP:0001300 | Parkinsonism | 1 | SCN9A CL E G H | 6335 | 10597 | ORPHA:33069 | Dravet syndrome | HP:0040282 - Frequent | | | 318 | | |
HP:0002071 | HP:0002067 | Bradykinesia | 1 | SCN9A CL E G H | 6335 | 10597 | ORPHA:33069 | Dravet syndrome | HP:0040282 - Frequent | | | 318 | | |
HP:0002071 | HP:0002067 | Bradykinesia | 1 | SCN9A CL E G H | 6335 | 10597 | ORPHA:36387 | Generalized epilepsy with febrile seizures-plus | HP:0040284 - Very rare | | | 318 | | |
HP:0002071 | HP:0001300 | Parkinsonism | 1 | SIGMAR1 CL E G H | 10280 | 8157 | ORPHA:300605 | Juvenile amyotrophic lateral sclerosis | HP:0040283 - Occasional | | | 6 | | |
HP:0002071 | HP:0001300 | Parkinsonism | 1 | SLC18A2 CL E G H | 6571 | 10935 | ORPHA:352649 | Brain dopamine-serotonin vesicular transport disease | HP:0040281 - Very frequent | | | 2 | | |
HP:0002071 | HP:0001300 | Parkinsonism | 1 | SLC18A2 CL E G H | 6571 | 10935 | OMIM:618049 | Parkinsonism-Dystonia, infantile, 2 | . | | | 2 | | |
HP:0002071 | HP:0001300 | Parkinsonism | 1 | SLC20A2 CL E G H | 6575 | 10947 | OMIM:213600 | Basal ganglia calcification, idiopathic, 1 | . | | | 70 | | |
HP:0002071 | HP:0002067 | Bradykinesia | 1 | SLC20A2 CL E G H | 6575 | 10947 | OMIM:213600 | Basal ganglia calcification, idiopathic, 1 | . | | | 70 | | |
HP:0002071 | HP:0002067 | Bradykinesia | 1 | SLC25A4 CL E G H | 291 | 10990 | ORPHA:254892 | Autosomal dominant progressive external ophthalmoplegia | HP:0040282 - Frequent | | | 68 | | |
HP:0002071 | HP:0007308 | Extrapyramidal dyskinesia | 1 | SLC2A1 CL E G H | 6513 | 11005 | ORPHA:71277 | Classic glucose transporter type 1 deficiency syndrome | HP:0040282 - Frequent | | | 255 | | |
HP:0002071 | HP:0002067 | Bradykinesia | 1 | SLC2A3 CL E G H | 6515 | 11007 | ORPHA:399 | Huntington disease | HP:0040282 - Frequent | | | 1 | | |
HP:0002071 | HP:0002067 | Bradykinesia | 1 | SLC30A10 CL E G H | 55532 | 25355 | ORPHA:309854 | Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome | HP:0040282 - Frequent | | | 42 | | |
HP:0002071 | HP:0001300 | Parkinsonism | 1 | SLC30A10 CL E G H | 55532 | 25355 | OMIM:613280 | Hypermanganesemia with dystonia 1 | . | | | 42 | | |
HP:0002071 | HP:0002067 | Bradykinesia | 1 | SLC30A10 CL E G H | 55532 | 25355 | OMIM:613280 | Hypermanganesemia with dystonia 1 | | | | 42 | | |
HP:0002071 | HP:0002067 | Bradykinesia | 1 | SLC39A14 CL E G H | 23516 | 20858 | ORPHA:521406 | Dystonia-parkinsonism-hypermanganesemia syndrome | HP:0040282 - Frequent | | | 5 | | |
HP:0002071 | HP:0001300 | Parkinsonism | 1 | SLC39A14 CL E G H | 23516 | 20858 | ORPHA:521406 | Dystonia-parkinsonism-hypermanganesemia syndrome | HP:0040282 - Frequent | | | 5 | | |
HP:0002071 | HP:0002067 | Bradykinesia | 1 | SLC39A14 CL E G H | 23516 | 20858 | OMIM:617013 | Hypermanganesemia with dystonia 2 | . | | | 5 | | |
HP:0002071 | HP:0001300 | Parkinsonism | 1 | SLC39A14 CL E G H | 23516 | 20858 | OMIM:617013 | Hypermanganesemia with dystonia 2 | . | | | 5 | | |
HP:0002071 | HP:0002067 | Bradykinesia | 1 | SLC6A3 CL E G H | 6531 | 11049 | ORPHA:238455 | Infantile dystonia-parkinsonism | HP:0040282 - Frequent | | | 13 | | |
HP:0002071 | HP:0001300 | Parkinsonism | 1 | SLC6A3 CL E G H | 6531 | 11049 | ORPHA:238455 | Infantile dystonia-parkinsonism | HP:0040281 - Very frequent | | | 13 | | |
HP:0002071 | HP:0002067 | Bradykinesia | 1 | SLC6A3 CL E G H | 6531 | 11049 | OMIM:613135 | Parkinsonism-Dystonia, infantile, 1 | . | | | 13 | | |
HP:0002071 | HP:0001300 | Parkinsonism | 1 | SLC6A3 CL E G H | 6531 | 11049 | OMIM:613135 | Parkinsonism-Dystonia, infantile, 1 | . | | | 13 | | |
HP:0002071 | HP:0002267 | Exaggerated startle response | 1 | SLC6A5 CL E G H | 9152 | 11051 | OMIM:614618 | Hyperekplexia 3 | . | | | 81 | | |
HP:0002071 | HP:0002267 | Exaggerated startle response | 1 | SLC6A9 CL E G H | 6536 | 11056 | OMIM:617301 | Glycine encephalopathy with normal serum glycine | . | | | 4 | | |
HP:0002071 | HP:0001300 | Parkinsonism | 1 | SNCA CL E G H | 6622 | 11138 | OMIM:127750 | Dementia, lewy body | . | | | 65 | | |
HP:0002071 | HP:0002067 | Bradykinesia | 1 | SNCA CL E G H | 6622 | 11138 | ORPHA:411602 | Hereditary late-onset Parkinson disease | HP:0040283 - Occasional | | | 65 | | |
HP:0002071 | HP:0001300 | Parkinsonism | 1 | SNCA CL E G H | 6622 | 11138 | ORPHA:411602 | Hereditary late-onset Parkinson disease | HP:0040280 - Obligate | | | 65 | | |
HP:0002071 | HP:0002067 | Bradykinesia | 1 | SNCA CL E G H | 6622 | 11138 | OMIM:168601 | Parkinson disease 1, autosomal dominant | . | | | 65 | | |
HP:0002071 | HP:0001300 | Parkinsonism | 1 | SNCA CL E G H | 6622 | 11138 | OMIM:168601 | Parkinson disease 1, autosomal dominant | . | | | 65 | | |
HP:0002071 | HP:0001300 | Parkinsonism | 1 | SNCA CL E G H | 6622 | 11138 | OMIM:605543 | Parkinson disease 4 | . | | | 65 | | |
HP:0002071 | HP:0002067 | Bradykinesia | 1 | SNCA CL E G H | 6622 | 11138 | ORPHA:171695 | Parkinsonian-pyramidal syndrome | HP:0040282 - Frequent | | | 65 | | |
HP:0002071 | HP:0001300 | Parkinsonism | 1 | SNCA CL E G H | 6622 | 11138 | ORPHA:171695 | Parkinsonian-pyramidal syndrome | HP:0040280 - Obligate | | | 65 | | |
HP:0002071 | HP:0002067 | Bradykinesia | 1 | SNCA CL E G H | 6622 | 11138 | ORPHA:2828 | Young-onset Parkinson disease | HP:0040283 - Occasional | | | 65 | | |
HP:0002071 | HP:0002067 | Bradykinesia | 1 | SNCAIP CL E G H | 9627 | 11139 | OMIM:168600 | Parkinson disease, late-onset | . | | | 35 | | |
HP:0002071 | HP:0001300 | Parkinsonism | 1 | SNCAIP CL E G H | 9627 | 11139 | OMIM:168600 | Parkinson disease, late-onset | . | | | 35 | | |
HP:0002071 | HP:0001300 | Parkinsonism | 1 | SNCB CL E G H | 6620 | 11140 | OMIM:127750 | Dementia, lewy body | . | | | 2 | | |
HP:0002071 | HP:0002267 | Exaggerated startle response | 1 | SOD1 CL E G H | 6647 | 11179 | OMIM:618598 | SPASTIC TETRAPLEGIA AND AXIAL HYPOTONIA, PROGRESSIVE; STAHP | | | | 53 | | |
HP:0002071 | HP:0001300 | Parkinsonism | 1 | SORL1 CL E G H | 6653 | 11185 | ORPHA:1020 | Early-onset autosomal dominant Alzheimer disease | HP:0040281 - Very frequent | | | 3 | | |
HP:0002071 | HP:0001300 | Parkinsonism | 1 | SPG11 CL E G H | 80208 | 11226 | ORPHA:2822 | Autosomal recessive spastic paraplegia type 11 | HP:0040283 - Occasional | | | 287 | | |
HP:0002071 | HP:0001300 | Parkinsonism | 1 | SPG11 CL E G H | 80208 | 11226 | ORPHA:300605 | Juvenile amyotrophic lateral sclerosis | HP:0040283 - Occasional | | | 287 | | |
HP:0002071 | HP:0002067 | Bradykinesia | 1 | SPR CL E G H | 6697 | 11257 | ORPHA:70594 | Dopa-responsive dystonia due to sepiapterin reductase deficiency | HP:0040282 - Frequent | | | 28 | | |
HP:0002071 | HP:0001300 | Parkinsonism | 1 | SPTLC1 CL E G H | 10558 | 11277 | ORPHA:300605 | Juvenile amyotrophic lateral sclerosis | HP:0040283 - Occasional | | | 54 | | |
HP:0002071 | HP:0001300 | Parkinsonism | 1 | SQSTM1 CL E G H | 8878 | 11280 | ORPHA:275872 | Frontotemporal dementia with motor neuron disease | HP:0040282 - Frequent | | | 62 | | |
HP:0002071 | HP:0001300 | Parkinsonism | 1 | STUB1 CL E G H | 10273 | 11427 | OMIM:618093 | SPINOCEREBELLAR ATAXIA 48; SCA48 | | | | 14 | | |
HP:0002071 | HP:0002067 | Bradykinesia | 1 | STX1B CL E G H | 112755 | 18539 | ORPHA:36387 | Generalized epilepsy with febrile seizures-plus | HP:0040284 - Very rare | | | 9 | | |
HP:0002071 | HP:0002067 | Bradykinesia | 1 | SYNJ1 CL E G H | 8867 | 11503 | ORPHA:391411 | Atypical juvenile parkinsonism | HP:0040281 - Very frequent | | | 9 | | |
HP:0002071 | HP:0002067 | Bradykinesia | 1 | SYNJ1 CL E G H | 8867 | 11503 | OMIM:615530 | Parkinson disease 20, early-onset | . | | | 9 | | |
HP:0002071 | HP:0001300 | Parkinsonism | 1 | SYNJ1 CL E G H | 8867 | 11503 | OMIM:615530 | Parkinson disease 20, early-onset | . | | | 9 | | |
HP:0002071 | HP:0002067 | Bradykinesia | 1 | SYNJ1 CL E G H | 8867 | 11503 | ORPHA:2828 | Young-onset Parkinson disease | HP:0040283 - Occasional | | | 9 | | |
HP:0002071 | HP:0011445 | Athetoid cerebral palsy | 1 | SYT1 CL E G H | 6857 | 11509 | ORPHA:522077 | Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0002071 | HP:0002067 | Bradykinesia | 1 | TACO1 CL E G H | 51204 | 24316 | OMIM:619052 | MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 8; MC4DN8 | | | | 23 | | |
HP:0002071 | HP:0001300 | Parkinsonism | 1 | TAF1 CL E G H | 6872 | 11535 | OMIM:314250 | Dystonia 3, torsion, X-linked | | | | 21 | | |
HP:0002071 | HP:0001300 | Parkinsonism | 1 | TAF1 CL E G H | 6872 | 11535 | ORPHA:53351 | X-linked dystonia-parkinsonism | | | | 21 | | |
HP:0002071 | HP:0002067 | Bradykinesia | 1 | TAF1 CL E G H | 6872 | 11535 | ORPHA:53351 | X-linked dystonia-parkinsonism | HP:0040282 - Frequent | | | 21 | | |
HP:0002071 | HP:0007076 | Extrapyramidal muscular rigidity | 1 | TAF1 CL E G H | 6872 | 11535 | ORPHA:53351 | X-linked dystonia-parkinsonism | | | | 21 | | |
HP:0002071 | HP:0001300 | Parkinsonism | 1 | TARDBP CL E G H | 23435 | 11571 | ORPHA:275872 | Frontotemporal dementia with motor neuron disease | HP:0040282 - Frequent | | | 65 | | |
HP:0002071 | HP:0001300 | Parkinsonism | 1 | TBK1 CL E G H | 29110 | 11584 | ORPHA:275872 | Frontotemporal dementia with motor neuron disease | HP:0040282 - Frequent | | | 20 | | |
HP:0002071 | HP:0001300 | Parkinsonism | 1 | TBP CL E G H | 6908 | 11588 | OMIM:168600 | Parkinson disease, late-onset | . | | | 7 | | |
HP:0002071 | HP:0002067 | Bradykinesia | 1 | TBP CL E G H | 6908 | 11588 | OMIM:168600 | Parkinson disease, late-onset | . | | | 7 | | |
HP:0002071 | HP:0001300 | Parkinsonism | 1 | TBP CL E G H | 6908 | 11588 | OMIM:607136 | Spinocerebellar ataxia 17 | . | | | 7 | | |
HP:0002071 | HP:0002067 | Bradykinesia | 1 | TBP CL E G H | 6908 | 11588 | OMIM:607136 | Spinocerebellar ataxia 17 | . | | | 7 | | |
HP:0002071 | HP:0001300 | Parkinsonism | 1 | TBP CL E G H | 6908 | 11588 | ORPHA:98759 | Spinocerebellar ataxia type 17 | HP:0040282 - Frequent | | | 7 | | |
HP:0002071 | HP:0002067 | Bradykinesia | 1 | TH CL E G H | 7054 | 11782 | ORPHA:101150 | Autosomal recessive dopa-responsive dystonia | HP:0040282 - Frequent | | | 80 | | |
HP:0002071 | HP:0001300 | Parkinsonism | 1 | TH CL E G H | 7054 | 11782 | ORPHA:101150 | Autosomal recessive dopa-responsive dystonia | HP:0040282 - Frequent | | | 80 | | |
HP:0002071 | HP:0001300 | Parkinsonism | 1 | TH CL E G H | 7054 | 11782 | OMIM:605407 | Segawa syndrome, autosomal recessive | . | | | 80 | | |
HP:0002071 | HP:0001300 | Parkinsonism | 1 | TK2 CL E G H | 7084 | 11831 | ORPHA:254886 | Autosomal recessive progressive external ophthalmoplegia | | | | 103 | | |
HP:0002071 | HP:0002067 | Bradykinesia | 1 | TK2 CL E G H | 7084 | 11831 | ORPHA:254886 | Autosomal recessive progressive external ophthalmoplegia | HP:0040283 - Occasional | | | 103 | | |
HP:0002071 | HP:0001300 | Parkinsonism | 1 | TMEM106B CL E G H | 54664 | 22407 | ORPHA:100070 | Progressive non-fluent aphasia | HP:0040283 - Occasional | | | | | |
HP:0002071 | HP:0001300 | Parkinsonism | 1 | TMEM240 CL E G H | 339453 | 25186 | OMIM:607454 | Spinocerebellar ataxia 21 | . | | | 9 | | |
HP:0002071 | HP:0002267 | Exaggerated startle response | 1 | TNIK CL E G H | 23043 | 30765 | OMIM:617028 | Mental retardation, autosomal recessive 54 | | | | 2 | | |
HP:0002071 | HP:0001300 | Parkinsonism | 1 | TNR CL E G H | 7143 | 11953 | OMIM:619653 | NEURODEVELOPMENTAL DISORDER, NONPROGRESSIVE, WITH SPASTICITY AND TRANSIENT OPISTHOTONUS; NEDSTO | | | | 7 | | |
HP:0002071 | HP:0001300 | Parkinsonism | 1 | TOMM40 CL E G H | 10452 | 18001 | ORPHA:1020 | Early-onset autosomal dominant Alzheimer disease | HP:0040281 - Very frequent | | | | | |
HP:0002071 | HP:0002067 | Bradykinesia | 1 | TPM2 CL E G H | 7169 | 12011 | ORPHA:171439 | Childhood-onset nemaline myopathy | HP:0040282 - Frequent | | | 54 | | |
HP:0002071 | HP:0002067 | Bradykinesia | 1 | TPM3 CL E G H | 7170 | 12012 | ORPHA:171439 | Childhood-onset nemaline myopathy | HP:0040282 - Frequent | | | 108 | | |
HP:0002071 | HP:0002267 | Exaggerated startle response | 1 | TRAK1 CL E G H | 22906 | 29947 | OMIM:618201 | Epileptic encephalopathy, early infantile, 68 | . | | | | | |
HP:0002071 | HP:0001300 | Parkinsonism | 1 | TREM2 CL E G H | 54209 | 17761 | ORPHA:1020 | Early-onset autosomal dominant Alzheimer disease | HP:0040281 - Very frequent | | | 31 | | |
HP:0002071 | HP:0001300 | Parkinsonism | 1 | TREM2 CL E G H | 54209 | 17761 | ORPHA:100070 | Progressive non-fluent aphasia | HP:0040283 - Occasional | | | 31 | | |
HP:0002071 | HP:0007076 | Extrapyramidal muscular rigidity | 1 | TREX1 CL E G H | 11277 | 12269 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040282 - Frequent | | | 56 | | |
HP:0002071 | HP:0001300 | Parkinsonism | 1 | TRNT CL E G H | 4576 | 7499 | OMIM:168600 | Parkinson disease, late-onset | . | | | | | |
HP:0002071 | HP:0002067 | Bradykinesia | 1 | TRNT CL E G H | 4576 | 7499 | OMIM:168600 | Parkinson disease, late-onset | . | | | | | |
HP:0002071 | HP:0001300 | Parkinsonism | 1 | TRPM7 CL E G H | 54822 | 17994 | OMIM:105500 | Amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 | . | | | 2 | | |
HP:0002071 | HP:0007308 | Extrapyramidal dyskinesia | 1 | TSEN2 CL E G H | 80746 | 28422 | OMIM:612389 | Pontocerebellar hypoplasia, type 2B | . | | | 84 | | |
HP:0002071 | HP:0007308 | Extrapyramidal dyskinesia | 1 | TSEN54 CL E G H | 283989 | 27561 | OMIM:277470 | Pontocerebellar hypoplasia, type 2A | . | | | 102 | | |
HP:0002071 | HP:0002067 | Bradykinesia | 1 | TSPOAP1 CL E G H | 9256 | 16831 | ORPHA:101150 | Autosomal recessive dopa-responsive dystonia | HP:0040282 - Frequent | | | 2 | | |
HP:0002071 | HP:0001300 | Parkinsonism | 1 | TSPOAP1 CL E G H | 9256 | 16831 | ORPHA:101150 | Autosomal recessive dopa-responsive dystonia | HP:0040282 - Frequent | | | 2 | | |
HP:0002071 | HP:0002267 | Exaggerated startle response | 1 | TSPYL1 CL E G H | 7259 | 12382 | OMIM:608800 | Sudden infant death with dysgenesis of the testes syndrome | | | | 1 | | |
HP:0002071 | HP:0002067 | Bradykinesia | 1 | TTC19 CL E G H | 54902 | 26006 | OMIM:615157 | Mitochondrial complex III deficiency, nuclear type 2 | . | | | 88 | | |
HP:0002071 | HP:0002067 | Bradykinesia | 1 | TWNK CL E G H | 56652 | 1160 | ORPHA:254892 | Autosomal dominant progressive external ophthalmoplegia | HP:0040282 - Frequent | | | 113 | | |
HP:0002071 | HP:0001300 | Parkinsonism | 1 | TWNK CL E G H | 56652 | 1160 | OMIM:609286 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 | HP:0040284 - Very rare | | | 113 | | |
HP:0002071 | HP:0001300 | Parkinsonism | 1 | UBTF CL E G H | 7343 | 12511 | OMIM:617672 | Neurodegeneration, childhood-onset, with brain atrophy | . | | | 1 | | |
HP:0002071 | HP:0002067 | Bradykinesia | 1 | UCHL1 CL E G H | 7345 | 12513 | OMIM:613643 | PARKINSON DISEASE 5, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO; PARK5 | | | | 21 | | |
HP:0002071 | HP:0001300 | Parkinsonism | 1 | UCHL1 CL E G H | 7345 | 12513 | OMIM:613643 | PARKINSON DISEASE 5, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO; PARK5 | | | | 21 | | |
HP:0002071 | HP:0002067 | Bradykinesia | 1 | UCHL1 CL E G H | 7345 | 12513 | ORPHA:2828 | Young-onset Parkinson disease | HP:0040283 - Occasional | | | 21 | | |
HP:0002071 | HP:0001300 | Parkinsonism | 1 | UQCRC1 CL E G H | 7384 | 12585 | OMIM:619279 | PARKINSONISM WITH POLYNEUROPATHY; PKNPY | | | | | | |
HP:0002071 | HP:0002067 | Bradykinesia | 1 | UQCRC1 CL E G H | 7384 | 12585 | OMIM:619279 | PARKINSONISM WITH POLYNEUROPATHY; PKNPY | | | | | | |
HP:0002071 | HP:0001300 | Parkinsonism | 1 | VCP CL E G H | 7415 | 12666 | ORPHA:329478 | Adult-onset distal myopathy due to VCP mutation | HP:0040283 - Occasional | | | 63 | | |
HP:0002071 | HP:0001300 | Parkinsonism | 1 | VCP CL E G H | 7415 | 12666 | ORPHA:275872 | Frontotemporal dementia with motor neuron disease | HP:0040282 - Frequent | | | 63 | | |
HP:0002071 | HP:0001300 | Parkinsonism | 1 | VCP CL E G H | 7415 | 12666 | ORPHA:100070 | Progressive non-fluent aphasia | HP:0040283 - Occasional | | | 63 | | |
HP:0002071 | HP:0001300 | Parkinsonism | 1 | VPS13A CL E G H | 23230 | 1908 | OMIM:200150 | CHOREOACANTHOCYTOSIS | . | | | 130 | | |
HP:0002071 | HP:0001300 | Parkinsonism | 1 | VPS13A CL E G H | 23230 | 1908 | ORPHA:2388 | Choreoacanthocytosis | HP:0040282 - Frequent | | | 130 | | |
HP:0002071 | HP:0002067 | Bradykinesia | 1 | VPS13A CL E G H | 23230 | 1908 | ORPHA:2388 | Choreoacanthocytosis | HP:0040283 - Occasional | | | 130 | | |
HP:0002071 | HP:0001300 | Parkinsonism | 1 | VPS13C CL E G H | 54832 | 23594 | OMIM:616840 | Parkinson disease 23, autosomal recessive early-onset | | | | 8 | | |
HP:0002071 | HP:0002067 | Bradykinesia | 1 | VPS13C CL E G H | 54832 | 23594 | ORPHA:2828 | Young-onset Parkinson disease | HP:0040283 - Occasional | | | 8 | | |
HP:0002071 | HP:0002067 | Bradykinesia | 1 | VPS35 CL E G H | 55737 | 13487 | ORPHA:411602 | Hereditary late-onset Parkinson disease | HP:0040283 - Occasional | | | 37 | | |
HP:0002071 | HP:0001300 | Parkinsonism | 1 | VPS35 CL E G H | 55737 | 13487 | ORPHA:411602 | Hereditary late-onset Parkinson disease | HP:0040280 - Obligate | | | 37 | | |
HP:0002071 | HP:0002067 | Bradykinesia | 1 | VPS35 CL E G H | 55737 | 13487 | OMIM:614203 | Parkinson disease 17 | . | | | 37 | | |
HP:0002071 | HP:0001300 | Parkinsonism | 1 | VPS35 CL E G H | 55737 | 13487 | OMIM:614203 | Parkinson disease 17 | . | | | 37 | | |
HP:0002071 | HP:0001300 | Parkinsonism | 1 | WARS2 CL E G H | 10352 | 12730 | OMIM:619738 | PARKINSONISM-DYSTONIA 3, CHILDHOOD-ONSET; PKDYS3 | | | | 2 | | |
HP:0002071 | HP:0002067 | Bradykinesia | 1 | WDR45 CL E G H | 11152 | 28912 | ORPHA:329284 | Beta-propeller protein-associated neurodegeneration | HP:0040282 - Frequent | | | 51 | | |
HP:0002071 | HP:0001300 | Parkinsonism | 1 | WDR45 CL E G H | 11152 | 28912 | ORPHA:329284 | Beta-propeller protein-associated neurodegeneration | HP:0040282 - Frequent | | | 51 | | |
HP:0002071 | HP:0002067 | Bradykinesia | 1 | WDR45 CL E G H | 11152 | 28912 | OMIM:300894 | Neurodegeneration with brain iron accumulation 5 | . | | | 51 | | |
HP:0002071 | HP:0001300 | Parkinsonism | 1 | WDR45 CL E G H | 11152 | 28912 | OMIM:300894 | Neurodegeneration with brain iron accumulation 5 | . | | | 51 | | |
HP:0002071 | HP:0007153 | Progressive extrapyramidal movement disorder | 1 | WDR73 CL E G H | 84942 | 25928 | ORPHA:83472 | CAMOS syndrome | HP:0040281 - Very frequent | | | 14 | | |
HP:0002071 | HP:0001300 | Parkinsonism | 1 | XPR1 CL E G H | 9213 | 12827 | OMIM:616413 | Basal ganglia calcification, idiopathic, 6 | . | | | 4 | | |
HP:0002071 | HP:0002267 | Exaggerated startle response | 1 | ZMYM2 CL E G H | 7750 | 12989 | OMIM:619522 | NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC | | | | | | |
HP:0002071 | HP:0007153 | Progressive extrapyramidal movement disorder | 1 | ZNF592 CL E G H | 9640 | 28986 | ORPHA:83472 | CAMOS syndrome | HP:0040281 - Very frequent | | | 4 | | |
HP:0002071 | HP:0002548 | Parkinsonism with favorable response to dopaminergic medication | 2 | ATP13A2 CL E G H | 23400 | 30213 | ORPHA:314632 | ATP13A2-related juvenile neuronal ceroid lipofuscinosis | HP:0040282 - Frequent | | | 100 | | |
HP:0002071 | HP:0002548 | Parkinsonism with favorable response to dopaminergic medication | 2 | ATP13A2 CL E G H | 23400 | 30213 | OMIM:606693 | Kufor-Rakeb syndrome | . | | | 100 | | |
HP:0002071 | HP:0002548 | Parkinsonism with favorable response to dopaminergic medication | 2 | ATP7B CL E G H | 540 | 870 | OMIM:277900 | Wilson disease | | | | 315 | | |
HP:0002071 | HP:0002548 | Parkinsonism with favorable response to dopaminergic medication | 2 | DNAJC13 CL E G H | 23317 | 30343 | ORPHA:411602 | Hereditary late-onset Parkinson disease | HP:0040282 - Frequent | | | 2 | | |
HP:0002071 | HP:0002548 | Parkinsonism with favorable response to dopaminergic medication | 2 | EIF4G1 CL E G H | 1981 | 3296 | ORPHA:411602 | Hereditary late-onset Parkinson disease | HP:0040282 - Frequent | | | 2 | | |
HP:0002071 | HP:0002548 | Parkinsonism with favorable response to dopaminergic medication | 2 | FBXO7 CL E G H | 25793 | 13586 | OMIM:260300 | Parkinson disease 15, autosomal recessive early-onset | . | | | 36 | | |
HP:0002071 | HP:0002548 | Parkinsonism with favorable response to dopaminergic medication | 2 | GBA1 CL E G H | 2629 | 4177 | ORPHA:411602 | Hereditary late-onset Parkinson disease | HP:0040282 - Frequent | | | | | |
HP:0002071 | HP:0002548 | Parkinsonism with favorable response to dopaminergic medication | 2 | GCH1 CL E G H | 2643 | 4193 | OMIM:128230 | Dystonia, DOPA-responsive, with or without hyperphenylalaninemia | | | | 86 | | |
HP:0002071 | HP:0002548 | Parkinsonism with favorable response to dopaminergic medication | 2 | GIGYF2 CL E G H | 26058 | 11960 | ORPHA:411602 | Hereditary late-onset Parkinson disease | HP:0040282 - Frequent | | | 8 | | |
HP:0002071 | HP:0002548 | Parkinsonism with favorable response to dopaminergic medication | 2 | GIGYF2 CL E G H | 26058 | 11960 | OMIM:607688 | PARKINSON DISEASE 11, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO; PARK11 | | | | 8 | | |
HP:0002071 | HP:0002548 | Parkinsonism with favorable response to dopaminergic medication | 2 | HTRA2 CL E G H | 27429 | 14348 | OMIM:610297 | PARKINSON DISEASE 13, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO; PARK13 | | | | 39 | | |
HP:0002071 | HP:0002548 | Parkinsonism with favorable response to dopaminergic medication | 2 | LRRK2 CL E G H | 120892 | 18618 | ORPHA:411602 | Hereditary late-onset Parkinson disease | HP:0040282 - Frequent | | | 221 | | |
HP:0002071 | HP:0002548 | Parkinsonism with favorable response to dopaminergic medication | 2 | LRRK2 CL E G H | 120892 | 18618 | OMIM:607060 | Parkinson disease 8, autosomal dominant | . | | | 221 | | |
HP:0002071 | HP:0007158 | Progressive extrapyramidal muscular rigidity | 2 | MAPT CL E G H | 4137 | 6893 | ORPHA:240071 | Classic progressive supranuclear palsy syndrome | HP:0040282 - Frequent | | | 140 | | |
HP:0002071 | HP:0002548 | Parkinsonism with favorable response to dopaminergic medication | 2 | MAPT CL E G H | 4137 | 6893 | ORPHA:240071 | Classic progressive supranuclear palsy syndrome | HP:0040283 - Occasional | | | 140 | | |
HP:0002071 | HP:0002548 | Parkinsonism with favorable response to dopaminergic medication | 2 | MAPT CL E G H | 4137 | 6893 | ORPHA:240103 | Progressive supranuclear palsy-corticobasal syndrome | HP:0040283 - Occasional | | | 140 | | |
HP:0002071 | HP:0007158 | Progressive extrapyramidal muscular rigidity | 2 | MAPT CL E G H | 4137 | 6893 | ORPHA:240103 | Progressive supranuclear palsy-corticobasal syndrome | HP:0040282 - Frequent | | | 140 | | |
HP:0002071 | HP:0002548 | Parkinsonism with favorable response to dopaminergic medication | 2 | MAPT CL E G H | 4137 | 6893 | ORPHA:240085 | Progressive supranuclear palsy-parkinsonism syndrome | HP:0040281 - Very frequent | | | 140 | | |
HP:0002071 | HP:0007158 | Progressive extrapyramidal muscular rigidity | 2 | MAPT CL E G H | 4137 | 6893 | ORPHA:240112 | Progressive supranuclear palsy-progressive non-fluent aphasia syndrome | HP:0040283 - Occasional | | | 140 | | |
HP:0002071 | HP:0007158 | Progressive extrapyramidal muscular rigidity | 2 | MICU1 CL E G H | 10367 | 1530 | ORPHA:401768 | Proximal myopathy with extrapyramidal signs | HP:0040282 - Frequent | | | 14 | | |
HP:0002071 | HP:0002548 | Parkinsonism with favorable response to dopaminergic medication | 2 | PARK7 CL E G H | 11315 | 16369 | OMIM:606324 | PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET; PARK7 | | | | 23 | | |
HP:0002071 | HP:0002548 | Parkinsonism with favorable response to dopaminergic medication | 2 | PDE10A CL E G H | 10846 | 8772 | ORPHA:494541 | Childhood-onset benign chorea with striatal involvement | HP:0040283 - Occasional | | | 5 | | |
HP:0002071 | HP:0002548 | Parkinsonism with favorable response to dopaminergic medication | 2 | PLA2G6 CL E G H | 8398 | 9039 | ORPHA:199351 | Adult-onset dystonia-parkinsonism | HP:0040282 - Frequent | | | 133 | | |
HP:0002071 | HP:0002548 | Parkinsonism with favorable response to dopaminergic medication | 2 | POLG CL E G H | 5428 | 9179 | ORPHA:254886 | Autosomal recessive progressive external ophthalmoplegia | HP:0040283 - Occasional | | | 464 | | |
HP:0002071 | HP:0002548 | Parkinsonism with favorable response to dopaminergic medication | 2 | POLG CL E G H | 5428 | 9179 | OMIM:157640 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 | . | | | 464 | | |
HP:0002071 | HP:0007158 | Progressive extrapyramidal muscular rigidity | 2 | PRNP CL E G H | 5621 | 9449 | ORPHA:282166 | Inherited Creutzfeldt-Jakob disease | HP:0040282 - Frequent | | | 69 | | |
HP:0002071 | HP:0002548 | Parkinsonism with favorable response to dopaminergic medication | 2 | PSAP CL E G H | 5660 | 9498 | OMIM:619491 | PARKINSON DISEASE 24, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO; PARK24 | | | | 81 | | |
HP:0002071 | HP:0002548 | Parkinsonism with favorable response to dopaminergic medication | 2 | RAB39B CL E G H | 116442 | 16499 | OMIM:311510 | Waisman syndrome | | | | 34 | | |
HP:0002071 | HP:0002548 | Parkinsonism with favorable response to dopaminergic medication | 2 | SNCA CL E G H | 6622 | 11138 | ORPHA:411602 | Hereditary late-onset Parkinson disease | HP:0040282 - Frequent | | | 65 | | |
HP:0002071 | HP:0002548 | Parkinsonism with favorable response to dopaminergic medication | 2 | TAF1 CL E G H | 6872 | 11535 | OMIM:314250 | Dystonia 3, torsion, X-linked | . | | | 21 | | |
HP:0002071 | HP:0007158 | Progressive extrapyramidal muscular rigidity | 2 | TAF1 CL E G H | 6872 | 11535 | ORPHA:53351 | X-linked dystonia-parkinsonism | HP:0040282 - Frequent | | | 21 | | |
HP:0002071 | HP:0002548 | Parkinsonism with favorable response to dopaminergic medication | 2 | TAF1 CL E G H | 6872 | 11535 | ORPHA:53351 | X-linked dystonia-parkinsonism | HP:0040282 - Frequent | | | 21 | | |
HP:0002071 | HP:0002548 | Parkinsonism with favorable response to dopaminergic medication | 2 | TH CL E G H | 7054 | 11782 | OMIM:605407 | Segawa syndrome, autosomal recessive | . | | | 80 | | |
HP:0002071 | HP:0002548 | Parkinsonism with favorable response to dopaminergic medication | 2 | TK2 CL E G H | 7084 | 11831 | ORPHA:254886 | Autosomal recessive progressive external ophthalmoplegia | HP:0040283 - Occasional | | | 103 | | |
HP:0002071 | HP:0002548 | Parkinsonism with favorable response to dopaminergic medication | 2 | UCHL1 CL E G H | 7345 | 12513 | OMIM:613643 | PARKINSON DISEASE 5, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO; PARK5 | | | | 21 | | |
HP:0002071 | HP:0002548 | Parkinsonism with favorable response to dopaminergic medication | 2 | UQCRC1 CL E G H | 7384 | 12585 | OMIM:619279 | PARKINSONISM WITH POLYNEUROPATHY; PKNPY | | | | | | |
HP:0002071 | HP:0002548 | Parkinsonism with favorable response to dopaminergic medication | 2 | VPS35 CL E G H | 55737 | 13487 | ORPHA:411602 | Hereditary late-onset Parkinson disease | HP:0040282 - Frequent | | | 37 | | |