Human Phenotype Ontology 
Grandparent Node:
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Abnormal nervous system physiology (HP:0012638)help
Parent Node:
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Abnormality of movement (HP:0100022)help
..Starting node
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Dyskinesia (HP:0100660)help
Term ID: 100660
Name: Dyskinesia
Synonym: Disorder of involuntary muscle movements; Dyskinesias; Dyskinesis
Definition: A movement disorder which consists of effects including diminished voluntary movements and the presence of involuntary movements.
Comments:
Reference: HP:0100660
Genes and Diseases:
 
       Child Nodes:
........expandOrofacial dyskinesia (HP:0002310) help
........expandExtrapyramidal dyskinesia (HP:0007308) help
........expandTardive dyskinesia (HP:0040141) help

 Sister Nodes: 
..expandAbnormal head movements (HP:0002457) help
..expandAbnormal posturing (HP:0002533) help
..expandAbnormal reflex (HP:0031826) help
..expandAstasia (HP:0020037) help
..expandAsterixis (HP:0012164) help
..expandBimanual synkinesia (HP:0001335) help
..expandCerebral palsy (HP:0100021) help
..expandDiminished movement (HP:0002374) help
..expandDystonia (HP:0001332) help
..expandFrontal release signs (HP:0000743) help
..expandGait disturbance (HP:0001288) help
..expandHyperactivity (HP:0000752) help
..expandHyperkinetic movements (HP:0002487) help
..expandInvoluntary movements (HP:0004305) help
..expandMuscle fibrillation (HP:0010546) help
..expandMyokymia (HP:0002411) help
..expandPostural instability (HP:0002172) help
..expandPrimitive reflex (HP:0002476) help
..expandStooped posture (HP:0025403) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0100660HP:0100660Dyskinesia0AARS1 CL E G H1620OMIM:616339Epileptic encephalopathy, early infantile, 29
HP:0100660HP:0100660Dyskinesia0AARS1 CL E G H1620ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional
HP:0100660HP:0100660Dyskinesia0ACAT1 CL E G H3893ORPHA:134Beta-ketothiolase deficiency91
HP:0100660HP:0100660Dyskinesia0ACTL6B CL E G H51412160ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional2
HP:0100660HP:0100660Dyskinesia0ADCY5 CL E G H111236OMIM:606703Dyskinesia, familial, with facial myokymia.25
HP:0100660HP:0100660Dyskinesia0ADCY5 CL E G H111236ORPHA:324588Familial dyskinesia and facial myokymia25
HP:0100660HP:0100660Dyskinesia0AGA CL E G H175318ORPHA:93AspartylglucosaminuriaHP:0040281 - Very frequent76
HP:0100660HP:0100660Dyskinesia0AP3B2 CL E G H8120567OMIM:617276EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 48; EIEE487
HP:0100660HP:0100660Dyskinesia0AP3B2 CL E G H8120567ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional7
HP:0100660HP:0100660Dyskinesia0ARV1 CL E G H6480129561ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional3
HP:0100660HP:0100660Dyskinesia0ARX CL E G H17030218060OMIM:308350Developmental and epileptic encephalopathy 1.166
HP:0100660HP:0100660Dyskinesia0ARX CL E G H17030218060ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional166
HP:0100660HP:0100660Dyskinesia0ATG7 CL E G H1053316935OMIM:619422SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 31; SCAR311
HP:0100660HP:0100660Dyskinesia0ATP13A2 CL E G H2340030213ORPHA:306674Kufor-Rakeb syndromeHP:0040282 - Frequent100
HP:0100660HP:0100660Dyskinesia0ATP1A2 CL E G H477800ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional239
HP:0100660HP:0100660Dyskinesia0ATP1A3 CL E G H478801ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional150
HP:0100660HP:0100660Dyskinesia0ATP6 CL E G H45087414ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040282 - Frequent
HP:0100660HP:0100660Dyskinesia0ATP6V1A CL E G H523851ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional3
HP:0100660HP:0100660Dyskinesia0ATXN10 CL E G H2581410549ORPHA:98761Spinocerebellar ataxia type 10HP:0040282 - Frequent9
HP:0100660HP:0100660Dyskinesia0ATXN7 CL E G H631410560OMIM:164500Spinocerebellar ataxia 7 opca III opca with retinal degeneration opca with macular degeneration and external ophthalmoplegia autosomal dominant cerebellar ataxia, type II adca, type II8
HP:0100660HP:0100660Dyskinesia0ATXN7 CL E G H631410560ORPHA:94147Spinocerebellar ataxia type 78
HP:0100660HP:0100660Dyskinesia0B4GALNT1 CL E G H25834117ORPHA:101006Autosomal recessive spastic paraplegia type 26HP:0040283 - Occasional25
HP:0100660HP:0100660Dyskinesia0B4GALNT1 CL E G H25834117OMIM:609195Spastic paraplegia 26, autosomal recessive.25
HP:0100660HP:0100660Dyskinesia0BCAS3 CL E G H5482814347OMIM:619641HENGEL-MAROOFIAN-SCHOLS SYNDROME; HEMARS2
HP:0100660HP:0100660Dyskinesia0BMPR1A CL E G H6571076ORPHA:440437Familial colorectal cancer Type XHP:0040283 - Occasional385
HP:0100660HP:0100660Dyskinesia0C9ORF72 CL E G H20322828337OMIM:105550Amyotrophic lateral sclerosis and/or frontotemporal dementia 156
HP:0100660HP:0100660Dyskinesia0CACNA1A CL E G H7731388ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional449
HP:0100660HP:0100660Dyskinesia0CACNA1B CL E G H7741389ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional5
HP:0100660HP:0100660Dyskinesia0CACNA2D1 CL E G H7811399ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional59
HP:0100660HP:0100660Dyskinesia0CAMK2B CL E G H8161461OMIM:617799Mental retardation, autosomal dominant 54
HP:0100660HP:0100660Dyskinesia0CASK CL E G H85731497ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional118
HP:0100660HP:0100660Dyskinesia0CDK19 CL E G H2309719338ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional
HP:0100660HP:0100660Dyskinesia0CDKL5 CL E G H679211411ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional405
HP:0100660HP:0100660Dyskinesia0CELF2 CL E G H106592550ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional
HP:0100660HP:0100660Dyskinesia0CHKA CL E G H11191937OMIM:620023
HP:0100660HP:0100660Dyskinesia0CHMP2B CL E G H2597824537OMIM:600795Frontotemporal dementia and/or amytrophic lateral sclerosis 742
HP:0100660HP:0100660Dyskinesia0CLTC CL E G H12132092ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional1
HP:0100660HP:0100660Dyskinesia0CNKSR2 CL E G H2286619701ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional18
HP:0100660HP:0100660Dyskinesia0COQ2 CL E G H2723525223ORPHA:227510Multiple system atrophy, cerebellar type54
HP:0100660HP:0100660Dyskinesia0COQ2 CL E G H2723525223ORPHA:98933Multiple system atrophy, parkinsonian type54
HP:0100660HP:0100660Dyskinesia0CUX2 CL E G H2331619347OMIM:618141Epileptic encephalopathy, early infantile, 67.
HP:0100660HP:0100660Dyskinesia0CYFIP2 CL E G H2699913760ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional1
HP:0100660HP:0100660Dyskinesia0CYP27A1 CL E G H15932605ORPHA:909Cerebrotendinous xanthomatosis114
HP:0100660HP:0100660Dyskinesia0DALRD3 CL E G H5515225536ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional
HP:0100660HP:0100660Dyskinesia0DDX3X CL E G H16542745OMIM:300958MENTAL RETARDATION, X-LINKED 102; MRX10257
HP:0100660HP:0100660Dyskinesia0DDX3X CL E G H16542745ORPHA:457260X-linked intellectual disability-hypotonia-movement disorder syndromeHP:0040282 - Frequent57
HP:0100660HP:0100660Dyskinesia0DEAF1 CL E G H1052214677OMIM:617171Dyskinesia, seizures, and intellectual developmental disorder.33
HP:0100660HP:0100660Dyskinesia0DHDDS CL E G H7994720603ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional47
HP:0100660HP:0100660Dyskinesia0DMXL2 CL E G H233122938ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional3
HP:0100660HP:0100660Dyskinesia0DNAJC13 CL E G H2331730343ORPHA:411602Hereditary late-onset Parkinson diseaseHP:0040283 - Occasional2
HP:0100660HP:0100660Dyskinesia0DNAJC19 CL E G H13111830528ORPHA:66634Dilated cardiomyopathy with ataxiaHP:0040284 - Very rare25
HP:0100660HP:0100660Dyskinesia0DNAJC6 CL E G H982915469ORPHA:2828Young-onset Parkinson diseaseHP:0040282 - Frequent6
HP:0100660HP:0100660Dyskinesia0DNM1 CL E G H17592972ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional72
HP:0100660HP:0100660Dyskinesia0DPYS CL E G H18073013OMIM:222748Dihydropyrimidinuria44
HP:0100660HP:0100660Dyskinesia0EEF1A2 CL E G H19173192ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional60
HP:0100660HP:0100660Dyskinesia0EIF4G1 CL E G H19813296ORPHA:411602Hereditary late-onset Parkinson diseaseHP:0040283 - Occasional2
HP:0100660HP:0100660Dyskinesia0EPCAM CL E G H407211529ORPHA:144Lynch syndromeHP:0040283 - Occasional170
HP:0100660HP:0100660Dyskinesia0EXOSC5 CL E G H5691524662OMIM:619576CEREBELLAR ATAXIA, BRAIN ABNORMALITIES, AND CARDIAC CONDUCTION DEFECTS; CABAC
HP:0100660HP:0100660Dyskinesia0FAN1 CL E G H2290929170ORPHA:144Lynch syndromeHP:0040283 - Occasional15
HP:0100660HP:0100660Dyskinesia0FASTKD2 CL E G H2286829160OMIM:618855COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 44; COXPD44122
HP:0100660HP:0100660Dyskinesia0FBXO28 CL E G H2321929046OMIM:619777DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100
HP:0100660HP:0100660Dyskinesia0FGF12 CL E G H22573668ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional3
HP:0100660HP:0100660Dyskinesia0FGF13 CL E G H22583670ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional1
HP:0100660HP:0100660Dyskinesia0FGF14 CL E G H22593671OMIM:193003Nystagmus 4, congenital, autosomal dominant47
HP:0100660HP:0100660Dyskinesia0FOXG1 CL E G H22903811OMIM:613454Rett syndrome, congenital variant177
HP:0100660HP:0100660Dyskinesia0FTL CL E G H25123999OMIM:606159Neurodegeneration with brain iron accumulation 3.33
HP:0100660HP:0100660Dyskinesia0FTL CL E G H25123999ORPHA:157846Neuroferritinopathy33
HP:0100660HP:0100660Dyskinesia0FZR1 CL E G H5134324824ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional
HP:0100660HP:0100660Dyskinesia0GABBR2 CL E G H95684507ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional5
HP:0100660HP:0100660Dyskinesia0GABRA2 CL E G H25554076ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional4
HP:0100660HP:0100660Dyskinesia0GABRA5 CL E G H25584079ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional
HP:0100660HP:0100660Dyskinesia0GABRB2 CL E G H25614082OMIM:617829Epileptic encephalopathy, infantile or early childhood, 2.44
HP:0100660HP:0100660Dyskinesia0GABRB2 CL E G H25614082ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional44
HP:0100660HP:0100660Dyskinesia0GABRB3 CL E G H25624083OMIM:617113Epileptic encephalopathy, early infantile, 43.57
HP:0100660HP:0100660Dyskinesia0GABRG2 CL E G H25664087ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional139
HP:0100660HP:0100660Dyskinesia0GBA1 CL E G H26294177ORPHA:411602Hereditary late-onset Parkinson diseaseHP:0040283 - Occasional
HP:0100660HP:0100660Dyskinesia0GBA2 CL E G H5770418986OMIM:614409Spastic paraplegia 46, autosomal recessive30
HP:0100660HP:0100660Dyskinesia0GIGYF2 CL E G H2605811960ORPHA:411602Hereditary late-onset Parkinson diseaseHP:0040283 - Occasional8
HP:0100660HP:0100660Dyskinesia0GNAO1 CL E G H27754389ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional36
HP:0100660HP:0100660Dyskinesia0GNAO1 CL E G H27754389OMIM:617493Neurodevelopmental disorder with involuntary movements.36
HP:0100660HP:0100660Dyskinesia0GNAS CL E G H27784392ORPHA:94089Pseudohypoparathyroidism type 1BHP:0040283 - Occasional101
HP:0100660HP:0100660Dyskinesia0GRIN1 CL E G H29024584ORPHA:208447Bilateral generalized polymicrogyriaHP:0040283 - Occasional108
HP:0100660HP:0100660Dyskinesia0GRIN1 CL E G H29024584ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional108
HP:0100660HP:0100660Dyskinesia0GRIN1 CL E G H29024584OMIM:614254Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant.108
HP:0100660HP:0100660Dyskinesia0GRIN2B CL E G H29044586OMIM:616139Epileptic encephalopathy, early infantile, 27.274
HP:0100660HP:0100660Dyskinesia0GRIN2B CL E G H29044586OMIM:613970Mental retardation, autosomal dominant 6, with or without seizures.274
HP:0100660HP:0100660Dyskinesia0GRIN2D CL E G H29064588ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional2
HP:0100660HP:0100660Dyskinesia0GRM7 CL E G H29174599ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional5
HP:0100660HP:0100660Dyskinesia0HCN1 CL E G H3489804845ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional54
HP:0100660HP:0100660Dyskinesia0HTRA2 CL E G H2742914348ORPHA:2828Young-onset Parkinson diseaseHP:0040282 - Frequent39
HP:0100660HP:0100660Dyskinesia0INPP5K CL E G H5176333882ORPHA:559Marinesco-Sjögren syndromeHP:0040282 - Frequent7
HP:0100660HP:0100660Dyskinesia0IREB2 CL E G H36586115OMIM:618451Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia
HP:0100660HP:0100660Dyskinesia0JAM2 CL E G H5849414686OMIM:618824BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 8, AUTOSOMAL RECESSIVE; IBGC8
HP:0100660HP:0100660Dyskinesia0KCNA1 CL E G H37366218ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional145
HP:0100660HP:0100660Dyskinesia0KCNA1 CL E G H37366218ORPHA:98809Paroxysmal kinesigenic dyskinesiaHP:0040281 - Very frequent145
HP:0100660HP:0100660Dyskinesia0KCNA2 CL E G H37376220ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional13
HP:0100660HP:0100660Dyskinesia0KCNB1 CL E G H37456231ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional65
HP:0100660HP:0100660Dyskinesia0KCNMA1 CL E G H37786284OMIM:609446Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy.114
HP:0100660HP:0100660Dyskinesia0KCNN2 CL E G H37816291OMIM:619725NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE MOVEMENT OR BEHAVIORAL ABNORMALITIES; NEDMAB
HP:0100660HP:0100660Dyskinesia0KNSTRN CL E G H9041730767OMIM:613328Roifman-Chitayat syndrome.1
HP:0100660HP:0100660Dyskinesia0KRAS CL E G H38456407ORPHA:144Lynch syndromeHP:0040283 - Occasional196
HP:0100660HP:0100660Dyskinesia0LRPPRC CL E G H1012815714ORPHA:70472Congenital lactic acidosis, Saguenay-Lac-Saint-Jean typeHP:0040283 - Occasional191
HP:0100660HP:0100660Dyskinesia0LRRK2 CL E G H12089218618ORPHA:411602Hereditary late-onset Parkinson diseaseHP:0040283 - Occasional221
HP:0100660HP:0100660Dyskinesia0LRRK2 CL E G H12089218618ORPHA:2828Young-onset Parkinson diseaseHP:0040282 - Frequent221
HP:0100660HP:0100660Dyskinesia0MDH2 CL E G H41916971OMIM:617339Epileptic encephalopathy, early infantile, 514
HP:0100660HP:0100660Dyskinesia0MECR CL E G H5110219691OMIM:617282Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities.6
HP:0100660HP:0100660Dyskinesia0MECR CL E G H5110219691ORPHA:508093MEPAN syndrome6
HP:0100660HP:0100660Dyskinesia0MICU1 CL E G H103671530OMIM:615673Myopathy with extrapyramidal signs14
HP:0100660HP:0100660Dyskinesia0MICU1 CL E G H103671530ORPHA:401768Proximal myopathy with extrapyramidal signs14
HP:0100660HP:0100660Dyskinesia0MLH1 CL E G H42927127ORPHA:144Lynch syndromeHP:0040283 - Occasional1819
HP:0100660HP:0100660Dyskinesia0MLH3 CL E G H270307128ORPHA:144Lynch syndromeHP:0040283 - Occasional131
HP:0100660HP:0100660Dyskinesia0MRE11 CL E G H43617230ORPHA:251347Ataxia-telangiectasia-like disorder532
HP:0100660HP:0100660Dyskinesia0MRM2 CL E G H2996016352OMIM:618567MITOCHONDRIAL DNA DEPLETION SYNDROME 17; MTDPS17
HP:0100660HP:0100660Dyskinesia0MSH2 CL E G H44367325ORPHA:144Lynch syndromeHP:0040283 - Occasional2162
HP:0100660HP:0100660Dyskinesia0MSH6 CL E G H29567329ORPHA:144Lynch syndromeHP:0040283 - Occasional2232
HP:0100660HP:0100660Dyskinesia0NALCN CL E G H25923219082ORPHA:371364Hypotonia-speech impairment-severe cognitive delay syndromeHP:0040282 - Frequent48
HP:0100660HP:0100660Dyskinesia0ND1 CL E G H45357455ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040282 - Frequent
HP:0100660HP:0100660Dyskinesia0ND2 CL E G H45367456ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040282 - Frequent
HP:0100660HP:0100660Dyskinesia0ND3 CL E G H45377458ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040282 - Frequent
HP:0100660HP:0100660Dyskinesia0ND4 CL E G H45387459ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040282 - Frequent
HP:0100660HP:0100660Dyskinesia0ND5 CL E G H45407461ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040282 - Frequent
HP:0100660HP:0100660Dyskinesia0ND6 CL E G H45417462ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040282 - Frequent
HP:0100660HP:0100660Dyskinesia0NDUFA13 CL E G H5107917194OMIM:618249Mitochondrial complex I deficiency, nuclear type 28.3
HP:0100660HP:0100660Dyskinesia0NDUFAF3 CL E G H2591529918ORPHA:70474Leigh syndrome with cardiomyopathyHP:0040282 - Frequent31
HP:0100660HP:0100660Dyskinesia0NDUFB8 CL E G H47147703ORPHA:70474Leigh syndrome with cardiomyopathyHP:0040282 - Frequent
HP:0100660HP:0100660Dyskinesia0NDUFS2 CL E G H47207708ORPHA:70474Leigh syndrome with cardiomyopathyHP:0040282 - Frequent65
HP:0100660HP:0100660Dyskinesia0NDUFS4 CL E G H47247711OMIM:252010Mitochondrial complex I deficiency, nuclear type 1.27
HP:0100660HP:0100660Dyskinesia0NDUFS8 CL E G H47287715OMIM:618222Mitochondrial complex I deficiency, nuclear type 2.42
HP:0100660HP:0100660Dyskinesia0NECAP1 CL E G H2597724539ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional1
HP:0100660HP:0100660Dyskinesia0NEUROD2 CL E G H47617763ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional
HP:0100660HP:0100660Dyskinesia0NMNAT1 CL E G H6480217877OMIM:619260SPONDYLOEPIPHYSEAL DYSPLASIA, SENSORINEURAL HEARING LOSS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND LEBER CONGENITAL AMAUROSIS; SHILCA15
HP:0100660HP:0100660Dyskinesia0NTRK2 CL E G H49158032ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional8
HP:0100660HP:0100660Dyskinesia0NUS1 CL E G H11615021042ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional1
HP:0100660HP:0100660Dyskinesia0PANK2 CL E G H8002515894OMIM:607236Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa,and pallidal degeneration55
HP:0100660HP:0100660Dyskinesia0PANK2 CL E G H8002515894OMIM:234200Neurodegeneration with brain iron accumulation 155
HP:0100660HP:0100660Dyskinesia0PARK7 CL E G H1131516369OMIM:606324PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET; PARK723
HP:0100660HP:0100660Dyskinesia0PARK7 CL E G H1131516369ORPHA:2828Young-onset Parkinson diseaseHP:0040282 - Frequent23
HP:0100660HP:0100660Dyskinesia0PARS2 CL E G H2597330563ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional14
HP:0100660HP:0100660Dyskinesia0PDE10A CL E G H108468772OMIM:616921Dyskinesia, limb and orofacial, infantile-onset5
HP:0100660HP:0100660Dyskinesia0PDE10A CL E G H108468772ORPHA:494526Infantile-onset generalized dyskinesia with orofacial involvement5
HP:0100660HP:0100660Dyskinesia0PDGFB CL E G H51558800OMIM:615483Basal ganglia calcification, idiopathic, 5.9
HP:0100660HP:0100660Dyskinesia0PGAP1 CL E G H8005525712OMIM:615802MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42; MRT4220
HP:0100660HP:0100660Dyskinesia0PIGP CL E G H512273046ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional2
HP:0100660HP:0100660Dyskinesia0PIGQ CL E G H909114135ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional3
HP:0100660HP:0100660Dyskinesia0PIK3CA CL E G H52908975ORPHA:144Lynch syndromeHP:0040283 - Occasional162
HP:0100660HP:0100660Dyskinesia0PIK3CD CL E G H52938977OMIM:613328Roifman-Chitayat syndrome.9
HP:0100660HP:0100660Dyskinesia0PINK1 CL E G H6501814581ORPHA:2828Young-onset Parkinson diseaseHP:0040282 - Frequent55
HP:0100660HP:0100660Dyskinesia0PLA2G6 CL E G H83989039OMIM:612953Parkinson disease 14, autosomal recessive133
HP:0100660HP:0100660Dyskinesia0PLP1 CL E G H53549086ORPHA:280219Pelizaeus-Merzbacher disease, classic form60
HP:0100660HP:0100660Dyskinesia0PMS1 CL E G H53789121ORPHA:144Lynch syndromeHP:0040283 - Occasional56
HP:0100660HP:0100660Dyskinesia0PMS2 CL E G H53959122ORPHA:144Lynch syndromeHP:0040283 - Occasional1121
HP:0100660HP:0100660Dyskinesia0PNKD CL E G H259539153ORPHA:98810Paroxysmal non-kinesigenic dyskinesiaHP:0040283 - Occasional66
HP:0100660HP:0100660Dyskinesia0PNKP CL E G H112849154ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional244
HP:0100660HP:0100660Dyskinesia0PNPT1 CL E G H8717823166ORPHA:319514Combined oxidative phosphorylation defect type 1360
HP:0100660HP:0100660Dyskinesia0PNPT1 CL E G H8717823166OMIM:614932Combined oxidative phosphorylation deficiency 1360
HP:0100660HP:0100660Dyskinesia0PODXL CL E G H54209171ORPHA:2828Young-onset Parkinson diseaseHP:0040282 - Frequent6
HP:0100660HP:0100660Dyskinesia0POLR3K CL E G H5172814121OMIM:619310LEUKODYSTROPHY, HYPOMYELINATING, 21; HLD21
HP:0100660HP:0100660Dyskinesia0PPP3CA CL E G H55309314ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional2
HP:0100660HP:0100660Dyskinesia0PRKN CL E G H50718607ORPHA:2828Young-onset Parkinson diseaseHP:0040282 - Frequent138
HP:0100660HP:0100660Dyskinesia0PRKRA CL E G H85759438ORPHA:210571Dystonia 1637
HP:0100660HP:0100660Dyskinesia0PRKRA CL E G H85759438OMIM:612067Dystonia 16.37
HP:0100660HP:0100660Dyskinesia0PRRT2 CL E G H11247630500OMIM:128200Episodic kinesigenic dyskinesia 194
HP:0100660HP:0100660Dyskinesia0PRRT2 CL E G H11247630500ORPHA:98809Paroxysmal kinesigenic dyskinesiaHP:0040281 - Very frequent94
HP:0100660HP:0100660Dyskinesia0PRRT2 CL E G H11247630500ORPHA:98810Paroxysmal non-kinesigenic dyskinesiaHP:0040283 - Occasional94
HP:0100660HP:0100660Dyskinesia0PURA CL E G H58139701ORPHA:438216PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutationHP:0040283 - Occasional53
HP:0100660HP:0100660Dyskinesia0RAB39B CL E G H11644216499OMIM:311510Waisman syndrome.34
HP:0100660HP:0100660Dyskinesia0RPS20 CL E G H622410405ORPHA:440437Familial colorectal cancer Type XHP:0040283 - Occasional1
HP:0100660HP:0100660Dyskinesia0SCN1B CL E G H632410586ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional126
HP:0100660HP:0100660Dyskinesia0SCN2A CL E G H632610588ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional427
HP:0100660HP:0100660Dyskinesia0SCN3A CL E G H632810590ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional70
HP:0100660HP:0100660Dyskinesia0SCN8A CL E G H633410596ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional357
HP:0100660HP:0100660Dyskinesia0SCO2 CL E G H999710604ORPHA:70474Leigh syndrome with cardiomyopathyHP:0040282 - Frequent40
HP:0100660HP:0100660Dyskinesia0SEMA4A CL E G H6421810729ORPHA:440437Familial colorectal cancer Type XHP:0040283 - Occasional48
HP:0100660HP:0100660Dyskinesia0SIK1 CL E G H15009411142ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional11
HP:0100660HP:0100660Dyskinesia0SIL1 CL E G H6437424624ORPHA:559Marinesco-Sjögren syndromeHP:0040282 - Frequent67
HP:0100660HP:0100660Dyskinesia0SLC13A5 CL E G H28411123089ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional73
HP:0100660HP:0100660Dyskinesia0SLC16A2 CL E G H656710923ORPHA:59Allan-Herndon-Dudley syndromeHP:0040284 - Very rare57
HP:0100660HP:0100660Dyskinesia0SLC18A2 CL E G H657110935ORPHA:352649Brain dopamine-serotonin vesicular transport disease2
HP:0100660HP:0100660Dyskinesia0SLC1A2 CL E G H650610940ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional3
HP:0100660HP:0100660Dyskinesia0SLC25A10 CL E G H146810980OMIM:618972MITOCHONDRIAL DNA DEPLETION SYNDROME 19; MTDPS19
HP:0100660HP:0100660Dyskinesia0SLC25A22 CL E G H7975119954ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional166
HP:0100660HP:0100660Dyskinesia0SLC2A1 CL E G H651311005ORPHA:71277Classic glucose transporter type 1 deficiency syndromeHP:0040282 - Frequent255
HP:0100660HP:0100660Dyskinesia0SLC2A1 CL E G H651311005OMIM:601042Dystonia 9.255
HP:0100660HP:0100660Dyskinesia0SLC2A1 CL E G H651311005OMIM:612126Glut1 deficiency syndrome 2.255
HP:0100660HP:0100660Dyskinesia0SLC30A9 CL E G H104631329OMIM:617595Birk-Landau-Perez syndrome.1
HP:0100660HP:0100660Dyskinesia0SLC35A1 CL E G H1055911021OMIM:603585Congenital disorder of glycosylation, type IIf24
HP:0100660HP:0100660Dyskinesia0SLC38A3 CL E G H1099118044ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional
HP:0100660HP:0100660Dyskinesia0SLC39A14 CL E G H2351620858ORPHA:521406Dystonia-parkinsonism-hypermanganesemia syndromeHP:0040282 - Frequent5
HP:0100660HP:0100660Dyskinesia0SLC46A1 CL E G H11323530521OMIM:229050Folate malabsorption, hereditary.101
HP:0100660HP:0100660Dyskinesia0SLC6A3 CL E G H653111049ORPHA:238455Infantile dystonia-parkinsonism13
HP:0100660HP:0100660Dyskinesia0SLC6A3 CL E G H653111049OMIM:613135Parkinsonism-Dystonia, infantile, 1.13
HP:0100660HP:0100660Dyskinesia0SNCA CL E G H662211138ORPHA:411602Hereditary late-onset Parkinson diseaseHP:0040283 - Occasional65
HP:0100660HP:0100660Dyskinesia0SNCA CL E G H662211138ORPHA:2828Young-onset Parkinson diseaseHP:0040282 - Frequent65
HP:0100660HP:0100660Dyskinesia0SQSTM1 CL E G H887811280OMIM:617145Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset62
HP:0100660HP:0100660Dyskinesia0STX16 CL E G H867511431ORPHA:94089Pseudohypoparathyroidism type 1BHP:0040283 - Occasional86
HP:0100660HP:0100660Dyskinesia0SUOX CL E G H682111460OMIM:272300SULFOCYSTEINURIA40
HP:0100660HP:0100660Dyskinesia0SURF1 CL E G H683411474ORPHA:70474Leigh syndrome with cardiomyopathyHP:0040282 - Frequent73
HP:0100660HP:0100660Dyskinesia0SYNGAP1 CL E G H883111497ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional108
HP:0100660HP:0100660Dyskinesia0SYNJ1 CL E G H886711503ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional9
HP:0100660HP:0100660Dyskinesia0SYNJ1 CL E G H886711503ORPHA:2828Young-onset Parkinson diseaseHP:0040282 - Frequent9
HP:0100660HP:0100660Dyskinesia0SYT1 CL E G H685711509OMIM:618218Baker-Gordon syndrome.1
HP:0100660HP:0100660Dyskinesia0SZT2 CL E G H2333429040ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional123
HP:0100660HP:0100660Dyskinesia0TGFBR2 CL E G H704811773ORPHA:144Lynch syndromeHP:0040283 - Occasional253
HP:0100660HP:0100660Dyskinesia0TMEM43 CL E G H7918828472OMIM:604400Arrhythmogenic right ventricular dysplasia, familial, 5.171
HP:0100660HP:0100660Dyskinesia0TRAK1 CL E G H2290629947ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional
HP:0100660HP:0100660Dyskinesia0TRIM8 CL E G H8160315579ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional1
HP:0100660HP:0100660Dyskinesia0TRNK CL E G H45667489ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040282 - Frequent
HP:0100660HP:0100660Dyskinesia0TRNL1 CL E G H45677490ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040282 - Frequent
HP:0100660HP:0100660Dyskinesia0TRNV CL E G H45777500ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040282 - Frequent
HP:0100660HP:0100660Dyskinesia0TRNW CL E G H45787501ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040282 - Frequent
HP:0100660HP:0100660Dyskinesia0TSEN2 CL E G H8074628422OMIM:612389Pontocerebellar hypoplasia, type 2B84
HP:0100660HP:0100660Dyskinesia0TSEN54 CL E G H28398927561OMIM:277470Pontocerebellar hypoplasia, type 2A102
HP:0100660HP:0100660Dyskinesia0UBA5 CL E G H7987623230ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional13
HP:0100660HP:0100660Dyskinesia0UCHL1 CL E G H734512513ORPHA:2828Young-onset Parkinson diseaseHP:0040282 - Frequent21
HP:0100660HP:0100660Dyskinesia0UNC80 CL E G H28517526582OMIM:616801Hypotonia, infantile, with psychomotor retardation and characteristic facies 2HP:0040283 - Occasional23
HP:0100660HP:0100660Dyskinesia0UNC80 CL E G H28517526582ORPHA:371364Hypotonia-speech impairment-severe cognitive delay syndromeHP:0040282 - Frequent23
HP:0100660HP:0100660Dyskinesia0VPS13A CL E G H232301908OMIM:200150CHOREOACANTHOCYTOSIS130
HP:0100660HP:0100660Dyskinesia0VPS13C CL E G H5483223594ORPHA:2828Young-onset Parkinson diseaseHP:0040282 - Frequent8
HP:0100660HP:0100660Dyskinesia0VPS35 CL E G H5573713487ORPHA:411602Hereditary late-onset Parkinson diseaseHP:0040283 - Occasional37
HP:0100660HP:0100660Dyskinesia0VPS35 CL E G H5573713487OMIM:614203Parkinson disease 17.37
HP:0100660HP:0100660Dyskinesia0WARS2 CL E G H1035212730OMIM:619738PARKINSONISM-DYSTONIA 3, CHILDHOOD-ONSET; PKDYS32
HP:0100660HP:0100660Dyskinesia0WIPI2 CL E G H2610032225OMIM:618453Intellectual developmental disorder with short stature and variable skeletal anomalies
HP:0100660HP:0100660Dyskinesia0WWOX CL E G H5174112799ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional149
HP:0100660HP:0100660Dyskinesia0XK CL E G H750412811OMIM:300842Mcleod syndrome.8
HP:0100660HP:0100660Dyskinesia0YIF1B CL E G H9052230511OMIM:619125KAYA-BARAKAT-MASSON SYNDROME; KABAMAS
HP:0100660HP:0100660Dyskinesia0YWHAG CL E G H753212852ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional
HP:0100660HP:0040141Tardive dyskinesia1 CL E G H
HP:0100660HP:0002310Orofacial dyskinesia1AARS1 CL E G H1620OMIM:616339Epileptic encephalopathy, early infantile, 29
HP:0100660HP:0007308Extrapyramidal dyskinesia1ACAT1 CL E G H3893ORPHA:134Beta-ketothiolase deficiencyHP:0040283 - Occasional91
HP:0100660HP:0002310Orofacial dyskinesia1ADCY5 CL E G H111236ORPHA:324588Familial dyskinesia and facial myokymiaHP:0040281 - Very frequent25
HP:0100660HP:0002310Orofacial dyskinesia1ATXN7 CL E G H631410560OMIM:164500Spinocerebellar ataxia 7 opca III opca with retinal degeneration opca with macular degeneration and external ophthalmoplegia autosomal dominant cerebellar ataxia, type II adca, type II.8
HP:0100660HP:0002310Orofacial dyskinesia1ATXN7 CL E G H631410560ORPHA:94147Spinocerebellar ataxia type 7HP:0040282 - Frequent8
HP:0100660HP:0007308Extrapyramidal dyskinesia1C9ORF72 CL E G H20322828337OMIM:105550Amyotrophic lateral sclerosis and/or frontotemporal dementia 1.56
HP:0100660HP:0002310Orofacial dyskinesia1CHMP2B CL E G H2597824537OMIM:600795Frontotemporal dementia and/or amytrophic lateral sclerosis 7.42
HP:0100660HP:0002310Orofacial dyskinesia1COQ2 CL E G H2723525223ORPHA:227510Multiple system atrophy, cerebellar typeHP:0040282 - Frequent54
HP:0100660HP:0002310Orofacial dyskinesia1COQ2 CL E G H2723525223ORPHA:98933Multiple system atrophy, parkinsonian typeHP:0040282 - Frequent54
HP:0100660HP:0002310Orofacial dyskinesia1CYP27A1 CL E G H15932605ORPHA:909Cerebrotendinous xanthomatosisHP:0040282 - Frequent114
HP:0100660HP:0007308Extrapyramidal dyskinesia1DPYS CL E G H18073013OMIM:222748Dihydropyrimidinuria.44
HP:0100660HP:0002310Orofacial dyskinesia1EXOSC5 CL E G H5691524662OMIM:619576CEREBELLAR ATAXIA, BRAIN ABNORMALITIES, AND CARDIAC CONDUCTION DEFECTS; CABAC
HP:0100660HP:0002310Orofacial dyskinesia1FGF14 CL E G H22593671OMIM:193003Nystagmus 4, congenital, autosomal dominant47
HP:0100660HP:0002310Orofacial dyskinesia1FTL CL E G H25123999ORPHA:157846NeuroferritinopathyHP:0040282 - Frequent33
HP:0100660HP:0002310Orofacial dyskinesia1GBA2 CL E G H5770418986OMIM:614409Spastic paraplegia 46, autosomal recessive30
HP:0100660HP:0002310Orofacial dyskinesia1GNAO1 CL E G H27754389OMIM:617493Neurodevelopmental disorder with involuntary movements.36
HP:0100660HP:0002310Orofacial dyskinesia1IREB2 CL E G H36586115OMIM:618451Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia.
HP:0100660HP:0002310Orofacial dyskinesia1JAM2 CL E G H5849414686OMIM:618824BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 8, AUTOSOMAL RECESSIVE; IBGC8
HP:0100660HP:0002310Orofacial dyskinesia1LRPPRC CL E G H1012815714ORPHA:70472Congenital lactic acidosis, Saguenay-Lac-Saint-Jean typeHP:0040283 - Occasional191
HP:0100660HP:0002310Orofacial dyskinesia1MICU1 CL E G H103671530OMIM:615673Myopathy with extrapyramidal signs14
HP:0100660HP:0002310Orofacial dyskinesia1MICU1 CL E G H103671530ORPHA:401768Proximal myopathy with extrapyramidal signsHP:0040282 - Frequent14
HP:0100660HP:0002310Orofacial dyskinesia1MRE11 CL E G H43617230ORPHA:251347Ataxia-telangiectasia-like disorderHP:0040282 - Frequent532
HP:0100660HP:0002310Orofacial dyskinesia1PANK2 CL E G H8002515894OMIM:607236Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa,and pallidal degeneration.55
HP:0100660HP:0002310Orofacial dyskinesia1PANK2 CL E G H8002515894OMIM:234200Neurodegeneration with brain iron accumulation 1.55
HP:0100660HP:0002310Orofacial dyskinesia1PDE10A CL E G H108468772OMIM:616921Dyskinesia, limb and orofacial, infantile-onset.5
HP:0100660HP:0002310Orofacial dyskinesia1PDE10A CL E G H108468772ORPHA:494526Infantile-onset generalized dyskinesia with orofacial involvementHP:0040281 - Very frequent5
HP:0100660HP:0002310Orofacial dyskinesia1PLP1 CL E G H53549086ORPHA:280219Pelizaeus-Merzbacher disease, classic formHP:0040283 - Occasional60
HP:0100660HP:0002310Orofacial dyskinesia1PNPT1 CL E G H8717823166ORPHA:319514Combined oxidative phosphorylation defect type 13HP:0040283 - Occasional60
HP:0100660HP:0002310Orofacial dyskinesia1PRKRA CL E G H85759438ORPHA:210571Dystonia 16HP:0040282 - Frequent37
HP:0100660HP:0002310Orofacial dyskinesia1PRRT2 CL E G H11247630500OMIM:128200Episodic kinesigenic dyskinesia 1.94
HP:0100660HP:0002310Orofacial dyskinesia1SLC18A2 CL E G H657110935ORPHA:352649Brain dopamine-serotonin vesicular transport diseaseHP:0040281 - Very frequent2
HP:0100660HP:0007308Extrapyramidal dyskinesia1SLC2A1 CL E G H651311005ORPHA:71277Classic glucose transporter type 1 deficiency syndromeHP:0040282 - Frequent255
HP:0100660HP:0002310Orofacial dyskinesia1SLC35A1 CL E G H1055911021OMIM:603585Congenital disorder of glycosylation, type IIf.24
HP:0100660HP:0002310Orofacial dyskinesia1SLC6A3 CL E G H653111049ORPHA:238455Infantile dystonia-parkinsonismHP:0040282 - Frequent13
HP:0100660HP:0007308Extrapyramidal dyskinesia1TSEN2 CL E G H8074628422OMIM:612389Pontocerebellar hypoplasia, type 2B.84
HP:0100660HP:0007308Extrapyramidal dyskinesia1TSEN54 CL E G H28398927561OMIM:277470Pontocerebellar hypoplasia, type 2A.102
HP:0100660HP:0002310Orofacial dyskinesia1VPS13A CL E G H232301908OMIM:200150CHOREOACANTHOCYTOSIS.130


Genes (194) :AARS1 ACAT1 ACTL6B ADCY5 AGA AP3B2 ARV1 ARX ATG7 ATP13A2 ATP1A2 ATP1A3 ATP6 ATP6V1A ATXN10 ATXN7 B4GALNT1 BCAS3 BMPR1A C9ORF72 CACNA1A CACNA1B CACNA2D1 CAMK2B CASK CDK19 CDKL5 CELF2 CHKA CHMP2B CLTC CNKSR2 COQ2 CUX2 CYFIP2 CYP27A1 DALRD3 DDX3X DEAF1 DHDDS DMXL2 DNAJC13 DNAJC19 DNAJC6 DNM1 DPYS EEF1A2 EIF4G1 EPCAM EXOSC5 FAN1 FASTKD2 FBXO28 FGF12 FGF13 FGF14 FOXG1 FTL FZR1 GABBR2 GABRA2 GABRA5 GABRB2 GABRB3 GABRG2 GBA1 GBA2 GIGYF2 GNAO1 GNAS GRIN1 GRIN2B GRIN2D GRM7 HCN1 HTRA2 INPP5K IREB2 JAM2 KCNA1 KCNA2 KCNB1 KCNMA1 KCNN2 KNSTRN KRAS LRPPRC LRRK2 MDH2 MECR MICU1 MLH1 MLH3 MRE11 MRM2 MSH2 MSH6 NALCN ND1 ND2 ND3 ND4 ND5 ND6 NDUFA13 NDUFAF3 NDUFB8 NDUFS2 NDUFS4 NDUFS8 NECAP1 NEUROD2 NMNAT1 NTRK2 NUS1 PANK2 PARK7 PARS2 PDE10A PDGFB PGAP1 PIGP PIGQ PIK3CA PIK3CD PINK1 PLA2G6 PLP1 PMS1 PMS2 PNKD PNKP PNPT1 PODXL POLR3K PPP3CA PRKN PRKRA PRRT2 PURA RAB39B RPS20 SCN1B SCN2A SCN3A SCN8A SCO2 SEMA4A SIK1 SIL1 SLC13A5 SLC16A2 SLC18A2 SLC1A2 SLC25A10 SLC25A22 SLC2A1 SLC30A9 SLC35A1 SLC38A3 SLC39A14 SLC46A1 SLC6A3 SNCA SQSTM1 STX16 SUOX SURF1 SYNGAP1 SYNJ1 SYT1 SZT2 TGFBR2 TMEM43 TRAK1 TRIM8 TRNK TRNL1 TRNV TRNW TSEN2 TSEN54 UBA5 UCHL1 UNC80 VPS13A VPS13C VPS35 WARS2 WIPI2 WWOX XK YIF1B YWHAG

Diseases (115) :OMIM:616339 ORPHA:442835 ORPHA:134 OMIM:606703 ORPHA:324588 ORPHA:93 OMIM:617276 OMIM:308350 ORPHA:1934 OMIM:619422 ORPHA:306674 ORPHA:255210 ORPHA:98761 OMIM:164500 ORPHA:94147 ORPHA:101006 OMIM:609195 OMIM:619641 ORPHA:440437 OMIM:105550 OMIM:617799 OMIM:620023 OMIM:600795 ORPHA:227510 ORPHA:98933 OMIM:618141 ORPHA:909 OMIM:300958 ORPHA:457260 OMIM:617171 ORPHA:411602 ORPHA:66634 ORPHA:2828 OMIM:222748 ORPHA:144 OMIM:619576 OMIM:618855 OMIM:619777 OMIM:193003 OMIM:613454 OMIM:606159 ORPHA:157846 OMIM:617829 OMIM:617113 OMIM:614409 OMIM:617493 ORPHA:94089 ORPHA:208447 OMIM:614254 OMIM:616139 OMIM:613970 ORPHA:559 OMIM:618451 OMIM:618824 ORPHA:98809 OMIM:609446 OMIM:619725 OMIM:613328 ORPHA:70472 OMIM:617339 OMIM:617282 ORPHA:508093 OMIM:615673 ORPHA:401768 ORPHA:251347 OMIM:618567 ORPHA:371364 OMIM:618249 ORPHA:70474 OMIM:252010 OMIM:618222 OMIM:619260 OMIM:607236 OMIM:234200 OMIM:606324 OMIM:616921 ORPHA:494526 OMIM:615483 OMIM:615802 OMIM:612953 ORPHA:280219 ORPHA:98810 ORPHA:319514 OMIM:614932 OMIM:619310 ORPHA:210571 OMIM:612067 OMIM:128200 ORPHA:438216 OMIM:311510 ORPHA:59 ORPHA:352649 OMIM:618972 ORPHA:71277 OMIM:601042 OMIM:612126 OMIM:617595 OMIM:603585 ORPHA:521406 OMIM:229050 ORPHA:238455 OMIM:613135 OMIM:617145 OMIM:272300 OMIM:618218 OMIM:604400 OMIM:612389 OMIM:277470 OMIM:616801 OMIM:200150 OMIM:614203 OMIM:619738 OMIM:618453 OMIM:300842 OMIM:619125
 

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