Human Phenotype Ontology 
Grandparent Node:
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Abnormality of movement (HP:0100022)help
Parent Node:
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Involuntary movements (HP:0004305)help
..Starting node
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Athetosis (HP:0002305)help
Term ID: 2305
Name: Athetosis
Synonym: Athetoid movements; Involuntary writhing movements; Involuntary writhing movements in fingers, hands, toes, and feet
Definition: A slow, continuous, involuntary writhing movement that prevents maintenance of a stable posture. Athetosis involves continuous smooth movements that appear random and are not composed of recognizable sub-movements or movement fragments. In contrast to chorea, in athetosis, the same regions of the body are repeatedly involved. Athetosis may worsen with attempts at movement of posture, but athetosis can also occur at rest.
Comments:
Reference: HP:0002305
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandChorea (HP:0002072) help
..expandClonus (HP:0002169) help
..expandFasciculations (HP:0002380) help
..expandHemiballismus (HP:0100248) help
..expandIntermittent painful muscle spasms (HP:0011964) help
..expandMotor stereotypy (HP:0000733) help
..expandMyoclonus (HP:0001336) help
..expandParoxysmal dyskinesia (HP:0007166) help
..expandSelf-mutilation of tongue and lips due to involuntary movements (HP:0008767) help
..expandTics (HP:0100033) help
..expandTremor (HP:0001337) 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:0002305HP:0002305Athetosis0ABCC8 CL E G H683359OMIM:618857DIABETES MELLITUS, PERMANENT NEONATAL, 3; PNDM3245
HP:0002305HP:0002305Athetosis0ABHD16A CL E G H792013921OMIM:619735SPASTIC PARAPLEGIA 86, AUTOSOMAL RECESSIVE; SPG86
HP:0002305HP:0002305Athetosis0ACO2 CL E G H50118OMIM:614559INFANTILE CEREBELLAR-RETINAL DEGENERATION; ICRD60
HP:0002305HP:0002305Athetosis0ADAR CL E G H103225ORPHA:225154Familial infantile bilateral striatal necrosis116
HP:0002305HP:0002305Athetosis0ADCY5 CL E G H111236OMIM:606703Dyskinesia, familial, with facial myokymia25
HP:0002305HP:0002305Athetosis0ALDH18A1 CL E G H58329722OMIM:219150Cutis laxa, autosomal recessive, type IIIA.89
HP:0002305HP:0002305Athetosis0AP1S2 CL E G H8905560OMIM:304340Pettigrew syndrome13
HP:0002305HP:0002305Athetosis0ARX CL E G H17030218060OMIM:308350Developmental and epileptic encephalopathy 1166
HP:0002305HP:0002305Athetosis0ARX CL E G H17030218060ORPHA:1934Early infantile epileptic encephalopathy166
HP:0002305HP:0002305Athetosis0ATG7 CL E G H1053316935OMIM:619422SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 31; SCAR311
HP:0002305HP:0002305Athetosis0ATM CL E G H472795OMIM:208900ATAXIA-TELANGIECTASIA3267
HP:0002305HP:0002305Athetosis0ATN1 CL E G H18223033ORPHA:101Dentatorubral pallidoluysian atrophy16
HP:0002305HP:0002305Athetosis0ATN1 CL E G H18223033OMIM:125370Dentatorubral-Pallidoluysian atrophy naito-oyanagi disease haw river syndrome ataxia, chorea, seizures, and dementia16
HP:0002305HP:0002305Athetosis0ATP1A2 CL E G H477800ORPHA:2131Alternating hemiplegia of childhood239
HP:0002305HP:0002305Athetosis0ATP1A2 CL E G H477800OMIM:104290Alternating hemiplegia of childhood 1239
HP:0002305HP:0002305Athetosis0ATP1A3 CL E G H478801ORPHA:2131Alternating hemiplegia of childhood150
HP:0002305HP:0002305Athetosis0ATP1A3 CL E G H478801OMIM:614820Alternating hemiplegia of childhood 2150
HP:0002305HP:0002305Athetosis0ATP6 CL E G H45087414ORPHA:225154Familial infantile bilateral striatal necrosis
HP:0002305HP:0002305Athetosis0AUH CL E G H549890OMIM:2509503-methylglutaconic aciduria, type I49
HP:0002305HP:0002305Athetosis0CACNA1A CL E G H7731388ORPHA:2131Alternating hemiplegia of childhood449
HP:0002305HP:0002305Athetosis0CACNA1A CL E G H7731388OMIM:617106Epileptic encephalopathy, early infantile, 42.449
HP:0002305HP:0002305Athetosis0CACNA1B CL E G H7741389OMIM:618497Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements5
HP:0002305HP:0002305Athetosis0CACNA1D CL E G H7761391OMIM:615474Primary aldosteronism, seizures, and neurologic abnormalitiesHP:0040283 - Occasional51
HP:0002305HP:0002305Athetosis0CACNA1D CL E G H7761391ORPHA:369929Primary hyperaldosteronism-seizures-neurological abnormalities syndromeHP:0040282 - Frequent51
HP:0002305HP:0002305Athetosis0CASK CL E G H85731497ORPHA:1934Early infantile epileptic encephalopathy118
HP:0002305HP:0002305Athetosis0CDKL5 CL E G H679211411ORPHA:1934Early infantile epileptic encephalopathy405
HP:0002305HP:0002305Athetosis0CERS1 CL E G H1071514253OMIM:616230Epilepsy, progressive myoclonic, 81
HP:0002305HP:0002305Athetosis0CHKA CL E G H11191937OMIM:620023
HP:0002305HP:0002305Athetosis0CLPB CL E G H8157030664ORPHA:4450383-methylglutaconic aciduria type 738
HP:0002305HP:0002305Athetosis0CLPB CL E G H8157030664OMIM:6162713-Methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia38
HP:0002305HP:0002305Athetosis0COX20 CL E G H11622826970OMIM:619054MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 11; MC4DN1125
HP:0002305HP:0002305Athetosis0CUX2 CL E G H2331619347OMIM:618141Epileptic encephalopathy, early infantile, 67.
HP:0002305HP:0002305Athetosis0CYB5A CL E G H15282570ORPHA:621Hereditary methemoglobinemiaHP:0040283 - Occasional2
HP:0002305HP:0002305Athetosis0CYB5R3 CL E G H17272873ORPHA:621Hereditary methemoglobinemiaHP:0040283 - Occasional24
HP:0002305HP:0002305Athetosis0DCAF17 CL E G H8006725784OMIM:241080Woodhouse-Sakati syndrome87
HP:0002305HP:0002305Athetosis0DCAF17 CL E G H8006725784ORPHA:3464Woodhouse-Sakati syndrome87
HP:0002305HP:0002305Athetosis0DDC CL E G H16442719OMIM:608643Aromatic L-amino acid decarboxylase deficiency43
HP:0002305HP:0002305Athetosis0DLAT CL E G H17372896OMIM:245348Pyruvate dehydrogenase E2 deficiency82
HP:0002305HP:0002305Athetosis0DMXL2 CL E G H233122938ORPHA:1934Early infantile epileptic encephalopathy3
HP:0002305HP:0002305Athetosis0DNM1L CL E G H100592973OMIM:614388Encephalopathy due to defective mitochondrial and peroxisomal fission 194
HP:0002305HP:0002305Athetosis0DPYSL5 CL E G H5689620637OMIM:619435RITSCHER-SCHINZEL SYNDROME 4; RTSC4
HP:0002305HP:0002305Athetosis0EIF2AK2 CL E G H56109437OMIM:618877LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME; LEUDEN
HP:0002305HP:0002305Athetosis0ELP2 CL E G H5525018248OMIM:617270Mental retardation, autosomal recessive 586
HP:0002305HP:0002305Athetosis0EPRS1 CL E G H20583418OMIM:617951Leukodystrophy, hypomyelinating, 15.
HP:0002305HP:0002305Athetosis0ERCC2 CL E G H20683434OMIM:278730Xeroderma pigmentosum, complementation group D106
HP:0002305HP:0002305Athetosis0ERCC6 CL E G H20743438OMIM:278800De Sanctis-Cacchione syndrome199
HP:0002305HP:0002305Athetosis0FBXL4 CL E G H2623513601OMIM:615471Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)384
HP:0002305HP:0002305Athetosis0FBXO28 CL E G H2321929046OMIM:619777DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100
HP:0002305HP:0002305Athetosis0FOXG1 CL E G H22903811OMIM:613454Rett syndrome, congenital variant.177
HP:0002305HP:0002305Athetosis0FOXRED1 CL E G H5557226927OMIM:618241Mitochondrial complex I deficiency, nuclear type 19.61
HP:0002305HP:0002305Athetosis0FRRS1L CL E G H237321362OMIM:616981Epileptic encephalopathy, early infantile, 374
HP:0002305HP:0002305Athetosis0FTL CL E G H25123999OMIM:606159Neurodegeneration with brain iron accumulation 333
HP:0002305HP:0002305Athetosis0GAMT CL E G H25934136ORPHA:382Guanidinoacetate methyltransferase deficiencyHP:0040283 - Occasional91
HP:0002305HP:0002305Athetosis0GCDH CL E G H26394189OMIM:231670Glutaric acidemia I115
HP:0002305HP:0002305Athetosis0GCDH CL E G H26394189ORPHA:25Glutaryl-CoA dehydrogenase deficiencyHP:0040282 - Frequent115
HP:0002305HP:0002305Athetosis0GCH1 CL E G H26434193OMIM:233910Hyperphenylalaninemia, BH4-deficient, B86
HP:0002305HP:0002305Athetosis0GJC2 CL E G H5716517494OMIM:608804Leukodystrophy, hypomyelinating, 237
HP:0002305HP:0002305Athetosis0GNAO1 CL E G H27754389ORPHA:1934Early infantile epileptic encephalopathy36
HP:0002305HP:0002305Athetosis0GNAO1 CL E G H27754389OMIM:615473Epileptic encephalopathy, early infantile, 17HP:0040283 - Occasional36
HP:0002305HP:0002305Athetosis0GNAO1 CL E G H27754389OMIM:617493Neurodevelopmental disorder with involuntary movements.36
HP:0002305HP:0002305Athetosis0GNAS CL E G H27784392ORPHA:79443Pseudohypoparathyroidism type 1A101
HP:0002305HP:0002305Athetosis0GON7 CL E G H8452020356OMIM:619603GALLOWAY-MOWAT SYNDROME 9; GAMOS9
HP:0002305HP:0002305Athetosis0GRIK2 CL E G H28984580OMIM:619580NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND ATAXIA AND WITH OR WITHOUT SEIZURES; NEDLAS32
HP:0002305HP:0002305Athetosis0GRIN1 CL E G H29024584ORPHA:1934Early infantile epileptic encephalopathy108
HP:0002305HP:0002305Athetosis0GRM7 CL E G H29174599ORPHA:1934Early infantile epileptic encephalopathy5
HP:0002305HP:0002305Athetosis0GTPBP2 CL E G H546764670OMIM:617988Jaberi-Elahi syndrome
HP:0002305HP:0002305Athetosis0GUF1 CL E G H6055825799OMIM:617065Epileptic encephalopathy, early infantile, 402
HP:0002305HP:0002305Athetosis0HCFC1 CL E G H30544839OMIM:309541Methylmalonic acidemia and homocysteinemia, Cblx typeHP:0040283 - Occasional100
HP:0002305HP:0002305Athetosis0HPRT1 CL E G H32515157OMIM:300322Lesch-Nyhan syndrome76
HP:0002305HP:0002305Athetosis0HSD17B10 CL E G H30284800ORPHA:391428HSD10 disease, infantile type19
HP:0002305HP:0002305Athetosis0HSD17B10 CL E G H30284800OMIM:300438HSD10 mitochondrial disease19
HP:0002305HP:0002305Athetosis0HSPD1 CL E G H33295261OMIM:612233Leukodystrophy, hypomyelinating, 446
HP:0002305HP:0002305Athetosis0IREB2 CL E G H36586115OMIM:618451Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia
HP:0002305HP:0002305Athetosis0IRF2BPL CL E G H6420714282OMIM:618088Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures
HP:0002305HP:0002305Athetosis0KCNA1 CL E G H37366218ORPHA:1934Early infantile epileptic encephalopathy145
HP:0002305HP:0002305Athetosis0KCNA1 CL E G H37366218ORPHA:37612Episodic ataxia type 1145
HP:0002305HP:0002305Athetosis0KCNA1 CL E G H37366218ORPHA:98809Paroxysmal kinesigenic dyskinesiaHP:0040281 - Very frequent145
HP:0002305HP:0002305Athetosis0KIF5A CL E G H37986323OMIM:617235Myoclonus, intractable, neonatal.93
HP:0002305HP:0002305Athetosis0MECP2 CL E G H42046990OMIM:300055Mental retardation, X-linked, syndromic 13950
HP:0002305HP:0002305Athetosis0MECR CL E G H5110219691OMIM:617282Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities6
HP:0002305HP:0002305Athetosis0MED23 CL E G H94392372OMIM:614249Mental retardation, autosomal recessive 1825
HP:0002305HP:0002305Athetosis0MICOS13 CL E G H12598833702ORPHA:670473-methylglutaconic aciduria type 3
HP:0002305HP:0002305Athetosis0MICU1 CL E G H103671530OMIM:615673Myopathy with extrapyramidal signs14
HP:0002305HP:0002305Athetosis0MMUT CL E G H45947526ORPHA:79312Vitamin B12-unresponsive methylmalonic acidemia type mut-
HP:0002305HP:0002305Athetosis0MMUT CL E G H45947526ORPHA:289916Vitamin B12-unresponsive methylmalonic acidemia type mut0
HP:0002305HP:0002305Athetosis0MRPS34 CL E G H6599316618OMIM:617664Combined oxidative phosphorylation deficiency 321
HP:0002305HP:0002305Athetosis0NADK2 CL E G H13368626404OMIM:6160342,4-Dienoyl-Coa reductase deficiency14
HP:0002305HP:0002305Athetosis0NADK2 CL E G H13368626404ORPHA:431361Progressive encephalopathy with leukodystrophy due to DECR deficiency14
HP:0002305HP:0002305Athetosis0NDE1 CL E G H5482017619OMIM:605013MICROHYDRANENCEPHALY.96
HP:0002305HP:0002305Athetosis0NDUFA1 CL E G H46947683OMIM:301020Mitochondrial complex I deficiency, nuclear type 127
HP:0002305HP:0002305Athetosis0NDUFA13 CL E G H5107917194OMIM:618249Mitochondrial complex I deficiency, nuclear type 283
HP:0002305HP:0002305Athetosis0NDUFA9 CL E G H47047693OMIM:618247Mitochondrial complex I deficiency, nuclear type 2627
HP:0002305HP:0002305Athetosis0NDUFAF5 CL E G H7913315899OMIM:618238Mitochondrial complex I deficiency, nuclear type 1634
HP:0002305HP:0002305Athetosis0NEUROD2 CL E G H47617763ORPHA:1934Early infantile epileptic encephalopathy
HP:0002305HP:0002305Athetosis0NGLY1 CL E G H5576817646ORPHA:404454Alacrimia-choreoathetosis-liver dysfunction syndromeHP:0040283 - Occasional32
HP:0002305HP:0002305Athetosis0NGLY1 CL E G H5576817646OMIM:615273Congenital disorder of deglycosylation32
HP:0002305HP:0002305Athetosis0NKX2-1 CL E G H708011825ORPHA:209905Brain-lung-thyroid syndrome51
HP:0002305HP:0002305Athetosis0NKX2-1 CL E G H708011825OMIM:610978Choreoathetosis, hypothyroidism, and neonatal respiratory distress51
HP:0002305HP:0002305Athetosis0NUP62 CL E G H236368066ORPHA:225154Familial infantile bilateral striatal necrosis7
HP:0002305HP:0002305Athetosis0NUP62 CL E G H236368066OMIM:271930Striatonigral degeneration, infantile7
HP:0002305HP:0002305Athetosis0OPA3 CL E G H802078142ORPHA:670473-methylglutaconic aciduria type 3163
HP:0002305HP:0002305Athetosis0PANK2 CL E G H8002515894OMIM:234200Neurodegeneration with brain iron accumulation 155
HP:0002305HP:0002305Athetosis0PC CL E G H50918636OMIM:266150Pyruvate carboxylase deficiency118
HP:0002305HP:0002305Athetosis0PDE2A CL E G H51388777ORPHA:31709Infantile convulsions and choreoathetosisHP:0040282 - Frequent
HP:0002305HP:0002305Athetosis0PDGFB CL E G H51558800OMIM:213600Basal ganglia calcification, idiopathic, 1.9
HP:0002305HP:0002305Athetosis0PDGFB CL E G H51558800OMIM:615483Basal ganglia calcification, idiopathic, 5.9
HP:0002305HP:0002305Athetosis0PDGFRB CL E G H51598804OMIM:213600Basal ganglia calcification, idiopathic, 1.28
HP:0002305HP:0002305Athetosis0PDHA1 CL E G H51608806OMIM:312170Pyruvate dehydrogenase e1-alpha deficiency88
HP:0002305HP:0002305Athetosis0PHGDH CL E G H262278923ORPHA:793513-phosphoglycerate dehydrogenase deficiency, infantile/juvenile formHP:0040283 - Occasional37
HP:0002305HP:0002305Athetosis0PIGN CL E G H235568967ORPHA:280633Multiple congenital anomalies-hypotonia-seizures syndromeHP:0040283 - Occasional37
HP:0002305HP:0002305Athetosis0PIGN CL E G H235568967OMIM:614080Multiple congenital anomalies-hypotonia-seizures syndrome 137
HP:0002305HP:0002305Athetosis0PIGP CL E G H512273046ORPHA:1934Early infantile epileptic encephalopathy2
HP:0002305HP:0002305Athetosis0PIGQ CL E G H909114135ORPHA:1934Early infantile epileptic encephalopathy3
HP:0002305HP:0002305Athetosis0PIGV CL E G H5565026031OMIM:239300Hyperphosphatasia with mental retardation.57
HP:0002305HP:0002305Athetosis0PIK3R5 CL E G H2353330035ORPHA:64753Spinocerebellar ataxia with axonal neuropathy type 211
HP:0002305HP:0002305Athetosis0PLP1 CL E G H53549086OMIM:312080Pelizaeus-Merzbacher disease60
HP:0002305HP:0002305Athetosis0PLP1 CL E G H53549086ORPHA:280219Pelizaeus-Merzbacher disease, classic formHP:0040282 - Frequent60
HP:0002305HP:0002305Athetosis0PNKD CL E G H259539153ORPHA:98810Paroxysmal non-kinesigenic dyskinesia66
HP:0002305HP:0002305Athetosis0PNKD CL E G H259539153OMIM:118800Paroxysmal nonkinesigenic dyskinesia 166
HP:0002305HP:0002305Athetosis0PNKP CL E G H112849154ORPHA:1934Early infantile epileptic encephalopathy244
HP:0002305HP:0002305Athetosis0PNPT1 CL E G H8717823166ORPHA:319514Combined oxidative phosphorylation defect type 1360
HP:0002305HP:0002305Athetosis0PNPT1 CL E G H8717823166OMIM:614932Combined oxidative phosphorylation deficiency 1360
HP:0002305HP:0002305Athetosis0POLG CL E G H54289179ORPHA:726Alpers-Huttenlocher syndrome464
HP:0002305HP:0002305Athetosis0POLR3K CL E G H5172814121OMIM:619310LEUKODYSTROPHY, HYPOMYELINATING, 21; HLD21
HP:0002305HP:0002305Athetosis0POU3F3 CL E G H54559216OMIM:618604SNIJDERS BLOK-FISHER SYNDROME; SNIBFIS
HP:0002305HP:0002305Athetosis0PRRT2 CL E G H11247630500OMIM:602066Convulsions, familial infantile, with paroxysmal choreoathetosis94
HP:0002305HP:0002305Athetosis0PRRT2 CL E G H11247630500OMIM:128200Episodic kinesigenic dyskinesia 194
HP:0002305HP:0002305Athetosis0PRRT2 CL E G H11247630500ORPHA:31709Infantile convulsions and choreoathetosisHP:0040282 - Frequent94
HP:0002305HP:0002305Athetosis0PRRT2 CL E G H11247630500ORPHA:98811Paroxysmal exertion-induced dyskinesia94
HP:0002305HP:0002305Athetosis0PRRT2 CL E G H11247630500ORPHA:98809Paroxysmal kinesigenic dyskinesiaHP:0040281 - Very frequent94
HP:0002305HP:0002305Athetosis0PRRT2 CL E G H11247630500ORPHA:98810Paroxysmal non-kinesigenic dyskinesia94
HP:0002305HP:0002305Athetosis0PTS CL E G H58059689ORPHA:136-pyruvoyl-tetrahydropterin synthase deficiency19
HP:0002305HP:0002305Athetosis0PTS CL E G H58059689OMIM:261640Hyperphenylalaninemia, BH4-deficient, A19
HP:0002305HP:0002305Athetosis0PYCR1 CL E G H58319721OMIM:614438Cutis laxa, autosomal recessive, type IIIB53
HP:0002305HP:0002305Athetosis0QDPR CL E G H58609752OMIM:261630Hyperphenylalaninemia, bh4-deficient, C43
HP:0002305HP:0002305Athetosis0RNASET2 CL E G H863521686OMIM:612951Leukoencephalopathy, cystic, without megalencephalyHP:0040283 - Occasional37
HP:0002305HP:0002305Athetosis0SCN1A CL E G H632310585OMIM:619317DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 6B; DEE6B1053
HP:0002305HP:0002305Athetosis0SCN1B CL E G H632410586ORPHA:1934Early infantile epileptic encephalopathy126
HP:0002305HP:0002305Athetosis0SCN2A CL E G H632610588ORPHA:1934Early infantile epileptic encephalopathy427
HP:0002305HP:0002305Athetosis0SCN8A CL E G H633410596ORPHA:31709Infantile convulsions and choreoathetosisHP:0040282 - Frequent357
HP:0002305HP:0002305Athetosis0SEPSECS CL E G H5109130605ORPHA:2524Pontocerebellar hypoplasia type 266
HP:0002305HP:0002305Athetosis0SETX CL E G H23064445ORPHA:64753Spinocerebellar ataxia with axonal neuropathy type 2162
HP:0002305HP:0002305Athetosis0SH2B1 CL E G H2597030417ORPHA:261197Proximal 16p11.2 microdeletion syndrome
HP:0002305HP:0002305Athetosis0SHQ1 CL E G H5516425543OMIM:619922
HP:0002305HP:0002305Athetosis0SIK1 CL E G H15009411142ORPHA:1934Early infantile epileptic encephalopathy11
HP:0002305HP:0002305Athetosis0SLC16A2 CL E G H656710923OMIM:300523Allan-Herndon-Dudley syndrome57
HP:0002305HP:0002305Athetosis0SLC16A2 CL E G H656710923ORPHA:59Allan-Herndon-Dudley syndrome57
HP:0002305HP:0002305Athetosis0SLC17A5 CL E G H2650310933OMIM:604369Salla disease.78
HP:0002305HP:0002305Athetosis0SLC1A3 CL E G H650710941ORPHA:2131Alternating hemiplegia of childhood63
HP:0002305HP:0002305Athetosis0SLC20A2 CL E G H657510947OMIM:213600Basal ganglia calcification, idiopathic, 1.70
HP:0002305HP:0002305Athetosis0SLC25A22 CL E G H7975119954ORPHA:1934Early infantile epileptic encephalopathy166
HP:0002305HP:0002305Athetosis0SLC25A42 CL E G H28443928380OMIM:618416Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression1
HP:0002305HP:0002305Athetosis0SLC2A1 CL E G H651311005ORPHA:71277Classic glucose transporter type 1 deficiency syndrome255
HP:0002305HP:0002305Athetosis0SLC2A1 CL E G H651311005OMIM:601042Dystonia 9255
HP:0002305HP:0002305Athetosis0SLC2A1 CL E G H651311005OMIM:606777Glut1 deficiency syndrome 1255
HP:0002305HP:0002305Athetosis0SLC2A1 CL E G H651311005OMIM:612126Glut1 deficiency syndrome 2255
HP:0002305HP:0002305Athetosis0SLC2A1 CL E G H651311005ORPHA:53583Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity255
HP:0002305HP:0002305Athetosis0SLC2A1 CL E G H651311005ORPHA:98811Paroxysmal exertion-induced dyskinesia255
HP:0002305HP:0002305Athetosis0SLC30A9 CL E G H104631329OMIM:617595Birk-Landau-Perez syndrome1
HP:0002305HP:0002305Athetosis0SLC46A1 CL E G H11323530521OMIM:229050Folate malabsorption, hereditary.101
HP:0002305HP:0002305Athetosis0SLC6A8 CL E G H653511055ORPHA:52503X-linked creatine transporter deficiencyHP:0040282 - Frequent122
HP:0002305HP:0002305Athetosis0SMPD1 CL E G H660911120OMIM:257200Niemann-Pick disease, type A.164
HP:0002305HP:0002305Athetosis0SPR CL E G H669711257OMIM:612716Dystonia, dopa-responsive, due to sepiapterin reductase deficiency28
HP:0002305HP:0002305Athetosis0SPTBN4 CL E G H5773114896OMIM:617519Neurodevelopmental disorder with hypotonia, neuropathy, and deafness3
HP:0002305HP:0002305Athetosis0ST3GAL5 CL E G H886910872OMIM:609056Salt and pepper developmental regression syndrome47
HP:0002305HP:0002305Athetosis0STXBP1 CL E G H681211444OMIM:612164Epileptic encephalopathy, early infantile, 4237
HP:0002305HP:0002305Athetosis0SUCLA2 CL E G H880311448OMIM:612073Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria).66
HP:0002305HP:0002305Athetosis0SUCLG1 CL E G H880211449ORPHA:17Fatal infantile lactic acidosis with methylmalonic aciduria60
HP:0002305HP:0002305Athetosis0SUOX CL E G H682111460OMIM:272300SULFOCYSTEINURIA40
HP:0002305HP:0002305Athetosis0SYT1 CL E G H685711509OMIM:618218Baker-Gordon syndrome1
HP:0002305HP:0002305Athetosis0SYT1 CL E G H685711509ORPHA:522077Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome1
HP:0002305HP:0002305Athetosis0TIMM50 CL E G H9260923656OMIM:6176983-methylglutaconic aciduria, type IX1
HP:0002305HP:0002305Athetosis0TMEM106B CL E G H5466422407OMIM:617964Leukodystrophy, hypomyelinating, 16
HP:0002305HP:0002305Athetosis0TNR CL E G H714311953OMIM:619653NEURODEVELOPMENTAL DISORDER, NONPROGRESSIVE, WITH SPASTICITY AND TRANSIENT OPISTHOTONUS; NEDSTO7
HP:0002305HP:0002305Athetosis0TOE1 CL E G H11403415954OMIM:614969Pontocerebellar hypoplasia, type 76
HP:0002305HP:0002305Athetosis0TRAPPC11 CL E G H6068425751OMIM:615356Muscular dystrophy, limb-girdle, autosomal recessive 18.27
HP:0002305HP:0002305Athetosis0TRIM8 CL E G H8160315579ORPHA:1934Early infantile epileptic encephalopathy1
HP:0002305HP:0002305Athetosis0TSEN15 CL E G H11646116791ORPHA:2524Pontocerebellar hypoplasia type 23
HP:0002305HP:0002305Athetosis0TSEN2 CL E G H8074628422ORPHA:2524Pontocerebellar hypoplasia type 284
HP:0002305HP:0002305Athetosis0TSEN34 CL E G H7904215506ORPHA:2524Pontocerebellar hypoplasia type 257
HP:0002305HP:0002305Athetosis0TSEN54 CL E G H28398927561ORPHA:2524Pontocerebellar hypoplasia type 2102
HP:0002305HP:0002305Athetosis0TUBB4A CL E G H1038220774OMIM:612438Leukodystrophy, hypomyelinating, 666
HP:0002305HP:0002305Athetosis0TWNK CL E G H566521160OMIM:271245Mitochondrial DNA depletion syndrome 7 (hepatocerebral type).113
HP:0002305HP:0002305Athetosis0UBA5 CL E G H7987623230OMIM:617132Epileptic encephalopathy, early infantile, 44.13
HP:0002305HP:0002305Athetosis0UBQLN2 CL E G H2997812509OMIM:300857Amyotrophic lateral sclerosis 15 with or without frontotemporal dementia.20
HP:0002305HP:0002305Athetosis0UQCRQ CL E G H2708929594OMIM:615159Mitochondrial complex III deficiency, nuclear type 4.34
HP:0002305HP:0002305Athetosis0VPS13A CL E G H232301908OMIM:200150CHOREOACANTHOCYTOSIS130
HP:0002305HP:0002305Athetosis0WARS2 CL E G H1035212730OMIM:617710Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures.2
HP:0002305HP:0002305Athetosis0WARS2 CL E G H1035212730ORPHA:572798WARS2-related combined oxidative phosphorylation defectHP:0040283 - Occasional2
HP:0002305HP:0002305Athetosis0XPA CL E G H750712814OMIM:278700Xeroderma pigmentosum, complementation group A34
HP:0002305HP:0002305Athetosis0XPR1 CL E G H921312827OMIM:616413Basal ganglia calcification, idiopathic, 64
HP:0002305HP:0001266Choreoathetosis1ABHD16A CL E G H792013921OMIM:619735SPASTIC PARAPLEGIA 86, AUTOSOMAL RECESSIVE; SPG86
HP:0002305HP:0001266Choreoathetosis1ADAR CL E G H103225ORPHA:225154Familial infantile bilateral striatal necrosisHP:0040282 - Frequent116
HP:0002305HP:0001266Choreoathetosis1ADCY5 CL E G H111236OMIM:606703Dyskinesia, familial, with facial myokymia25
HP:0002305HP:0001266Choreoathetosis1AP1S2 CL E G H8905560OMIM:304340Pettigrew syndrome.13
HP:0002305HP:0001266Choreoathetosis1ARX CL E G H17030218060OMIM:308350Developmental and epileptic encephalopathy 1.166
HP:0002305HP:0001266Choreoathetosis1ARX CL E G H17030218060ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional166
HP:0002305HP:0001266Choreoathetosis1ATG7 CL E G H1053316935OMIM:619422SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 31; SCAR311
HP:0002305HP:0001266Choreoathetosis1ATM CL E G H472795OMIM:208900ATAXIA-TELANGIECTASIA.3267
HP:0002305HP:0001266Choreoathetosis1ATN1 CL E G H18223033ORPHA:101Dentatorubral pallidoluysian atrophyHP:0040282 - Frequent16
HP:0002305HP:0001266Choreoathetosis1ATN1 CL E G H18223033OMIM:125370Dentatorubral-Pallidoluysian atrophy naito-oyanagi disease haw river syndrome ataxia, chorea, seizures, and dementia.16
HP:0002305HP:0001266Choreoathetosis1ATP1A2 CL E G H477800ORPHA:2131Alternating hemiplegia of childhoodHP:0040283 - Occasional239
HP:0002305HP:0001266Choreoathetosis1ATP1A2 CL E G H477800OMIM:104290Alternating hemiplegia of childhood 1.239
HP:0002305HP:0001266Choreoathetosis1ATP1A3 CL E G H478801ORPHA:2131Alternating hemiplegia of childhoodHP:0040283 - Occasional150
HP:0002305HP:0001266Choreoathetosis1ATP1A3 CL E G H478801OMIM:614820Alternating hemiplegia of childhood 2.150
HP:0002305HP:0001266Choreoathetosis1ATP6 CL E G H45087414ORPHA:225154Familial infantile bilateral striatal necrosisHP:0040282 - Frequent
HP:0002305HP:0001266Choreoathetosis1CACNA1A CL E G H7731388ORPHA:2131Alternating hemiplegia of childhoodHP:0040283 - Occasional449
HP:0002305HP:0001266Choreoathetosis1CACNA1B CL E G H7741389OMIM:618497Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements.5
HP:0002305HP:0001266Choreoathetosis1CASK CL E G H85731497ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional118
HP:0002305HP:0001266Choreoathetosis1CDKL5 CL E G H679211411ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional405
HP:0002305HP:0001266Choreoathetosis1CERS1 CL E G H1071514253OMIM:616230Epilepsy, progressive myoclonic, 81
HP:0002305HP:0001266Choreoathetosis1CHKA CL E G H11191937OMIM:620023
HP:0002305HP:0001266Choreoathetosis1CLPB CL E G H8157030664ORPHA:4450383-methylglutaconic aciduria type 7HP:0040282 - Frequent38
HP:0002305HP:0001266Choreoathetosis1CLPB CL E G H8157030664OMIM:6162713-Methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia38
HP:0002305HP:0001266Choreoathetosis1COX20 CL E G H11622826970OMIM:619054MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 11; MC4DN1125
HP:0002305HP:0001266Choreoathetosis1DCAF17 CL E G H8006725784OMIM:241080Woodhouse-Sakati syndrome.87
HP:0002305HP:0001266Choreoathetosis1DCAF17 CL E G H8006725784ORPHA:3464Woodhouse-Sakati syndromeHP:0040281 - Very frequent87
HP:0002305HP:0001266Choreoathetosis1DDC CL E G H16442719OMIM:608643Aromatic L-amino acid decarboxylase deficiency.43
HP:0002305HP:0001266Choreoathetosis1DLAT CL E G H17372896OMIM:245348Pyruvate dehydrogenase E2 deficiency.82
HP:0002305HP:0001266Choreoathetosis1DMXL2 CL E G H233122938ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional3
HP:0002305HP:0001266Choreoathetosis1EIF2AK2 CL E G H56109437OMIM:618877LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME; LEUDEN
HP:0002305HP:0001266Choreoathetosis1ELP2 CL E G H5525018248OMIM:617270Mental retardation, autosomal recessive 58.6
HP:0002305HP:0001266Choreoathetosis1ERCC2 CL E G H20683434OMIM:278730Xeroderma pigmentosum, complementation group D.106
HP:0002305HP:0001266Choreoathetosis1ERCC6 CL E G H20743438OMIM:278800De Sanctis-Cacchione syndrome.199
HP:0002305HP:0001266Choreoathetosis1FBXL4 CL E G H2623513601OMIM:615471Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)HP:0040283 - Occasional384
HP:0002305HP:0001266Choreoathetosis1FBXO28 CL E G H2321929046OMIM:619777DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100
HP:0002305HP:0001266Choreoathetosis1FRRS1L CL E G H237321362OMIM:616981Epileptic encephalopathy, early infantile, 37.4
HP:0002305HP:0001266Choreoathetosis1FTL CL E G H25123999OMIM:606159Neurodegeneration with brain iron accumulation 333
HP:0002305HP:0001266Choreoathetosis1GCDH CL E G H26394189OMIM:231670Glutaric acidemia I.115
HP:0002305HP:0001266Choreoathetosis1GCH1 CL E G H26434193OMIM:233910Hyperphenylalaninemia, BH4-deficient, B.86
HP:0002305HP:0001266Choreoathetosis1GJC2 CL E G H5716517494OMIM:608804Leukodystrophy, hypomyelinating, 2.37
HP:0002305HP:0001266Choreoathetosis1GNAO1 CL E G H27754389ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional36
HP:0002305HP:0001266Choreoathetosis1GNAS CL E G H27784392ORPHA:79443Pseudohypoparathyroidism type 1AHP:0040283 - Occasional101
HP:0002305HP:0001266Choreoathetosis1GON7 CL E G H8452020356OMIM:619603GALLOWAY-MOWAT SYNDROME 9; GAMOS9
HP:0002305HP:0001266Choreoathetosis1GRIK2 CL E G H28984580OMIM:619580NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND ATAXIA AND WITH OR WITHOUT SEIZURES; NEDLAS32
HP:0002305HP:0001266Choreoathetosis1GRIN1 CL E G H29024584ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional108
HP:0002305HP:0001266Choreoathetosis1GRM7 CL E G H29174599ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional5
HP:0002305HP:0001266Choreoathetosis1GTPBP2 CL E G H546764670OMIM:617988Jaberi-Elahi syndrome.
HP:0002305HP:0001266Choreoathetosis1GUF1 CL E G H6055825799OMIM:617065Epileptic encephalopathy, early infantile, 40.2
HP:0002305HP:0001266Choreoathetosis1HPRT1 CL E G H32515157OMIM:300322Lesch-Nyhan syndrome.76
HP:0002305HP:0001266Choreoathetosis1HSD17B10 CL E G H30284800ORPHA:391428HSD10 disease, infantile typeHP:0040283 - Occasional19
HP:0002305HP:0001266Choreoathetosis1HSD17B10 CL E G H30284800OMIM:300438HSD10 mitochondrial disease.19
HP:0002305HP:0001266Choreoathetosis1HSPD1 CL E G H33295261OMIM:612233Leukodystrophy, hypomyelinating, 4.46
HP:0002305HP:0001266Choreoathetosis1IREB2 CL E G H36586115OMIM:618451Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia.
HP:0002305HP:0001266Choreoathetosis1IRF2BPL CL E G H6420714282OMIM:618088Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures.
HP:0002305HP:0001266Choreoathetosis1KCNA1 CL E G H37366218ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional145
HP:0002305HP:0001266Choreoathetosis1KCNA1 CL E G H37366218ORPHA:37612Episodic ataxia type 1HP:0040283 - Occasional145
HP:0002305HP:0001266Choreoathetosis1MECP2 CL E G H42046990OMIM:300055Mental retardation, X-linked, syndromic 13950
HP:0002305HP:0001266Choreoathetosis1MED23 CL E G H94392372OMIM:614249Mental retardation, autosomal recessive 1825
HP:0002305HP:0001266Choreoathetosis1MICOS13 CL E G H12598833702ORPHA:670473-methylglutaconic aciduria type 3HP:0040281 - Very frequent
HP:0002305HP:0001266Choreoathetosis1MICU1 CL E G H103671530OMIM:615673Myopathy with extrapyramidal signs14
HP:0002305HP:0001266Choreoathetosis1MMUT CL E G H45947526ORPHA:79312Vitamin B12-unresponsive methylmalonic acidemia type mut-HP:0040283 - Occasional
HP:0002305HP:0001266Choreoathetosis1MMUT CL E G H45947526ORPHA:289916Vitamin B12-unresponsive methylmalonic acidemia type mut0HP:0040283 - Occasional
HP:0002305HP:0001266Choreoathetosis1MRPS34 CL E G H6599316618OMIM:617664Combined oxidative phosphorylation deficiency 32.1
HP:0002305HP:0001266Choreoathetosis1NADK2 CL E G H13368626404OMIM:6160342,4-Dienoyl-Coa reductase deficiency.14
HP:0002305HP:0001266Choreoathetosis1NADK2 CL E G H13368626404ORPHA:431361Progressive encephalopathy with leukodystrophy due to DECR deficiencyHP:0040282 - Frequent14
HP:0002305HP:0001266Choreoathetosis1NDUFA1 CL E G H46947683OMIM:301020Mitochondrial complex I deficiency, nuclear type 12.7
HP:0002305HP:0001266Choreoathetosis1NDUFA13 CL E G H5107917194OMIM:618249Mitochondrial complex I deficiency, nuclear type 28.3
HP:0002305HP:0001266Choreoathetosis1NDUFA9 CL E G H47047693OMIM:618247Mitochondrial complex I deficiency, nuclear type 26.27
HP:0002305HP:0001266Choreoathetosis1NDUFAF5 CL E G H7913315899OMIM:618238Mitochondrial complex I deficiency, nuclear type 1634
HP:0002305HP:0001266Choreoathetosis1NEUROD2 CL E G H47617763ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional
HP:0002305HP:0001266Choreoathetosis1NKX2-1 CL E G H708011825ORPHA:209905Brain-lung-thyroid syndromeHP:0040282 - Frequent51
HP:0002305HP:0001266Choreoathetosis1NKX2-1 CL E G H708011825OMIM:610978Choreoathetosis, hypothyroidism, and neonatal respiratory distress51
HP:0002305HP:0001266Choreoathetosis1NUP62 CL E G H236368066ORPHA:225154Familial infantile bilateral striatal necrosisHP:0040282 - Frequent7
HP:0002305HP:0001266Choreoathetosis1NUP62 CL E G H236368066OMIM:271930Striatonigral degeneration, infantile.7
HP:0002305HP:0001266Choreoathetosis1OPA3 CL E G H802078142ORPHA:670473-methylglutaconic aciduria type 3HP:0040281 - Very frequent163
HP:0002305HP:0001266Choreoathetosis1PANK2 CL E G H8002515894OMIM:234200Neurodegeneration with brain iron accumulation 1.55
HP:0002305HP:0001266Choreoathetosis1PDE2A CL E G H51388777ORPHA:31709Infantile convulsions and choreoathetosisHP:0040282 - Frequent
HP:0002305HP:0001266Choreoathetosis1PDHA1 CL E G H51608806OMIM:312170Pyruvate dehydrogenase e1-alpha deficiency.88
HP:0002305HP:0001266Choreoathetosis1PIGN CL E G H235568967OMIM:614080Multiple congenital anomalies-hypotonia-seizures syndrome 1HP:0040282 - Frequent37
HP:0002305HP:0001266Choreoathetosis1PIGP CL E G H512273046ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional2
HP:0002305HP:0001266Choreoathetosis1PIGQ CL E G H909114135ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional3
HP:0002305HP:0001266Choreoathetosis1PIK3R5 CL E G H2353330035ORPHA:64753Spinocerebellar ataxia with axonal neuropathy type 2HP:0040283 - Occasional11
HP:0002305HP:0001266Choreoathetosis1PLP1 CL E G H53549086OMIM:312080Pelizaeus-Merzbacher disease60
HP:0002305HP:0001266Choreoathetosis1PNKD CL E G H259539153ORPHA:98810Paroxysmal non-kinesigenic dyskinesiaHP:0040282 - Frequent66
HP:0002305HP:0001266Choreoathetosis1PNKD CL E G H259539153OMIM:118800Paroxysmal nonkinesigenic dyskinesia 166
HP:0002305HP:0001266Choreoathetosis1PNKP CL E G H112849154ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional244
HP:0002305HP:0001266Choreoathetosis1PNPT1 CL E G H8717823166ORPHA:319514Combined oxidative phosphorylation defect type 13HP:0040282 - Frequent60
HP:0002305HP:0001266Choreoathetosis1PNPT1 CL E G H8717823166OMIM:614932Combined oxidative phosphorylation deficiency 1360
HP:0002305HP:0001266Choreoathetosis1POLG CL E G H54289179ORPHA:726Alpers-Huttenlocher syndromeHP:0040282 - Frequent464
HP:0002305HP:0001266Choreoathetosis1POU3F3 CL E G H54559216OMIM:618604SNIJDERS BLOK-FISHER SYNDROME; SNIBFIS
HP:0002305HP:0001266Choreoathetosis1PRRT2 CL E G H11247630500OMIM:602066Convulsions, familial infantile, with paroxysmal choreoathetosis94
HP:0002305HP:0001266Choreoathetosis1PRRT2 CL E G H11247630500OMIM:128200Episodic kinesigenic dyskinesia 194
HP:0002305HP:0001266Choreoathetosis1PRRT2 CL E G H11247630500ORPHA:31709Infantile convulsions and choreoathetosisHP:0040282 - Frequent94
HP:0002305HP:0001266Choreoathetosis1PRRT2 CL E G H11247630500ORPHA:98811Paroxysmal exertion-induced dyskinesiaHP:0040281 - Very frequent94
HP:0002305HP:0001266Choreoathetosis1PRRT2 CL E G H11247630500ORPHA:98810Paroxysmal non-kinesigenic dyskinesiaHP:0040282 - Frequent94
HP:0002305HP:0001266Choreoathetosis1PTS CL E G H58059689ORPHA:136-pyruvoyl-tetrahydropterin synthase deficiencyHP:0040283 - Occasional19
HP:0002305HP:0001266Choreoathetosis1PTS CL E G H58059689OMIM:261640Hyperphenylalaninemia, BH4-deficient, A.19
HP:0002305HP:0001266Choreoathetosis1QDPR CL E G H58609752OMIM:261630Hyperphenylalaninemia, bh4-deficient, C.43
HP:0002305HP:0001266Choreoathetosis1SCN1A CL E G H632310585OMIM:619317DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 6B; DEE6B1053
HP:0002305HP:0001266Choreoathetosis1SCN1B CL E G H632410586ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional126
HP:0002305HP:0001266Choreoathetosis1SCN2A CL E G H632610588ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional427
HP:0002305HP:0001266Choreoathetosis1SCN8A CL E G H633410596ORPHA:31709Infantile convulsions and choreoathetosisHP:0040282 - Frequent357
HP:0002305HP:0001266Choreoathetosis1SEPSECS CL E G H5109130605ORPHA:2524Pontocerebellar hypoplasia type 2HP:0040281 - Very frequent66
HP:0002305HP:0001266Choreoathetosis1SETX CL E G H23064445ORPHA:64753Spinocerebellar ataxia with axonal neuropathy type 2HP:0040283 - Occasional162
HP:0002305HP:0001266Choreoathetosis1SH2B1 CL E G H2597030417ORPHA:261197Proximal 16p11.2 microdeletion syndromeHP:0040283 - Occasional
HP:0002305HP:0001266Choreoathetosis1SIK1 CL E G H15009411142ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional11
HP:0002305HP:0001266Choreoathetosis1SLC16A2 CL E G H656710923ORPHA:59Allan-Herndon-Dudley syndromeHP:0040282 - Frequent57
HP:0002305HP:0001266Choreoathetosis1SLC1A3 CL E G H650710941ORPHA:2131Alternating hemiplegia of childhoodHP:0040283 - Occasional63
HP:0002305HP:0001266Choreoathetosis1SLC25A22 CL E G H7975119954ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional166
HP:0002305HP:0001266Choreoathetosis1SLC25A42 CL E G H28443928380OMIM:618416Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression.1
HP:0002305HP:0001266Choreoathetosis1SLC2A1 CL E G H651311005ORPHA:71277Classic glucose transporter type 1 deficiency syndromeHP:0040282 - Frequent255
HP:0002305HP:0001266Choreoathetosis1SLC2A1 CL E G H651311005OMIM:601042Dystonia 9.255
HP:0002305HP:0001266Choreoathetosis1SLC2A1 CL E G H651311005OMIM:606777Glut1 deficiency syndrome 1.255
HP:0002305HP:0001266Choreoathetosis1SLC2A1 CL E G H651311005OMIM:612126Glut1 deficiency syndrome 2.255
HP:0002305HP:0001266Choreoathetosis1SLC2A1 CL E G H651311005ORPHA:53583Paroxysmal dystonic choreathetosis with episodic ataxia and spasticityHP:0040282 - Frequent255
HP:0002305HP:0001266Choreoathetosis1SLC2A1 CL E G H651311005ORPHA:98811Paroxysmal exertion-induced dyskinesiaHP:0040281 - Very frequent255
HP:0002305HP:0001266Choreoathetosis1SLC30A9 CL E G H104631329OMIM:617595Birk-Landau-Perez syndrome.1
HP:0002305HP:0001266Choreoathetosis1SPR CL E G H669711257OMIM:612716Dystonia, dopa-responsive, due to sepiapterin reductase deficiency.28
HP:0002305HP:0001266Choreoathetosis1SPTBN4 CL E G H5773114896OMIM:617519Neurodevelopmental disorder with hypotonia, neuropathy, and deafness3
HP:0002305HP:0001266Choreoathetosis1ST3GAL5 CL E G H886910872OMIM:609056Salt and pepper developmental regression syndrome.47
HP:0002305HP:0001266Choreoathetosis1STXBP1 CL E G H681211444OMIM:612164Epileptic encephalopathy, early infantile, 4237
HP:0002305HP:0001266Choreoathetosis1SUCLG1 CL E G H880211449ORPHA:17Fatal infantile lactic acidosis with methylmalonic aciduriaHP:0040283 - Occasional60
HP:0002305HP:0001266Choreoathetosis1SUOX CL E G H682111460OMIM:272300SULFOCYSTEINURIA.40
HP:0002305HP:0001266Choreoathetosis1SYT1 CL E G H685711509OMIM:618218Baker-Gordon syndrome.1
HP:0002305HP:0001266Choreoathetosis1SYT1 CL E G H685711509ORPHA:522077Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndromeHP:0040283 - Occasional1
HP:0002305HP:0001266Choreoathetosis1TIMM50 CL E G H9260923656OMIM:6176983-methylglutaconic aciduria, type IX1
HP:0002305HP:0001266Choreoathetosis1TMEM106B CL E G H5466422407OMIM:617964Leukodystrophy, hypomyelinating, 16
HP:0002305HP:0001266Choreoathetosis1TNR CL E G H714311953OMIM:619653NEURODEVELOPMENTAL DISORDER, NONPROGRESSIVE, WITH SPASTICITY AND TRANSIENT OPISTHOTONUS; NEDSTO7
HP:0002305HP:0001266Choreoathetosis1TOE1 CL E G H11403415954OMIM:614969Pontocerebellar hypoplasia, type 76
HP:0002305HP:0001266Choreoathetosis1TRIM8 CL E G H8160315579ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional1
HP:0002305HP:0001266Choreoathetosis1TSEN15 CL E G H11646116791ORPHA:2524Pontocerebellar hypoplasia type 2HP:0040281 - Very frequent3
HP:0002305HP:0001266Choreoathetosis1TSEN2 CL E G H8074628422ORPHA:2524Pontocerebellar hypoplasia type 2HP:0040281 - Very frequent84
HP:0002305HP:0001266Choreoathetosis1TSEN34 CL E G H7904215506ORPHA:2524Pontocerebellar hypoplasia type 2HP:0040281 - Very frequent57
HP:0002305HP:0001266Choreoathetosis1TSEN54 CL E G H28398927561ORPHA:2524Pontocerebellar hypoplasia type 2HP:0040281 - Very frequent102
HP:0002305HP:0001266Choreoathetosis1TUBB4A CL E G H1038220774OMIM:612438Leukodystrophy, hypomyelinating, 6.66
HP:0002305HP:0001266Choreoathetosis1VPS13A CL E G H232301908OMIM:200150CHOREOACANTHOCYTOSIS130
HP:0002305HP:0001266Choreoathetosis1XPA CL E G H750712814OMIM:278700Xeroderma pigmentosum, complementation group A.34
HP:0002305HP:0001266Choreoathetosis1XPR1 CL E G H921312827OMIM:616413Basal ganglia calcification, idiopathic, 6.4
HP:0002305HP:0007098Paroxysmal choreoathetosis2PNKD CL E G H259539153OMIM:118800Paroxysmal nonkinesigenic dyskinesia 1.66
HP:0002305HP:0007098Paroxysmal choreoathetosis2PRRT2 CL E G H11247630500OMIM:602066Convulsions, familial infantile, with paroxysmal choreoathetosis.94
HP:0002305HP:0007098Paroxysmal choreoathetosis2PRRT2 CL E G H11247630500OMIM:128200Episodic kinesigenic dyskinesia 1.94
HP:0002305HP:0007326Progressive choreoathetosis2VPS13A CL E G H232301908OMIM:200150CHOREOACANTHOCYTOSIS.130


Genes (153) :ABCC8 ABHD16A ACO2 ADAR ADCY5 ALDH18A1 AP1S2 ARX ATG7 ATM ATN1 ATP1A2 ATP1A3 ATP6 AUH CACNA1A CACNA1B CACNA1D CASK CDKL5 CERS1 CHKA CLPB COX20 CUX2 CYB5A CYB5R3 DCAF17 DDC DLAT DMXL2 DNM1L DPYSL5 EIF2AK2 ELP2 EPRS1 ERCC2 ERCC6 FBXL4 FBXO28 FOXG1 FOXRED1 FRRS1L FTL GAMT GCDH GCH1 GJC2 GNAO1 GNAS GON7 GRIK2 GRIN1 GRM7 GTPBP2 GUF1 HCFC1 HPRT1 HSD17B10 HSPD1 IREB2 IRF2BPL KCNA1 KIF5A MECP2 MECR MED23 MICOS13 MICU1 MMUT MRPS34 NADK2 NDE1 NDUFA1 NDUFA13 NDUFA9 NDUFAF5 NEUROD2 NGLY1 NKX2-1 NUP62 OPA3 PANK2 PC PDE2A PDGFB PDGFRB PDHA1 PHGDH PIGN PIGP PIGQ PIGV PIK3R5 PLP1 PNKD PNKP PNPT1 POLG POLR3K POU3F3 PRRT2 PTS PYCR1 QDPR RNASET2 SCN1A SCN1B SCN2A SCN8A SEPSECS SETX SH2B1 SHQ1 SIK1 SLC16A2 SLC17A5 SLC1A3 SLC20A2 SLC25A22 SLC25A42 SLC2A1 SLC30A9 SLC46A1 SLC6A8 SMPD1 SPR SPTBN4 ST3GAL5 STXBP1 SUCLA2 SUCLG1 SUOX SYT1 TIMM50 TMEM106B TNR TOE1 TRAPPC11 TRIM8 TSEN15 TSEN2 TSEN34 TSEN54 TUBB4A TWNK UBA5 UBQLN2 UQCRQ VPS13A WARS2 XPA XPR1

Diseases (156) :OMIM:618857 OMIM:619735 OMIM:614559 ORPHA:225154 OMIM:606703 OMIM:219150 OMIM:304340 OMIM:308350 ORPHA:1934 OMIM:619422 OMIM:208900 ORPHA:101 OMIM:125370 ORPHA:2131 OMIM:104290 OMIM:614820 OMIM:250950 OMIM:617106 OMIM:618497 OMIM:615474 ORPHA:369929 OMIM:616230 OMIM:620023 ORPHA:445038 OMIM:616271 OMIM:619054 OMIM:618141 ORPHA:621 OMIM:241080 ORPHA:3464 OMIM:608643 OMIM:245348 OMIM:614388 OMIM:619435 OMIM:618877 OMIM:617270 OMIM:617951 OMIM:278730 OMIM:278800 OMIM:615471 OMIM:619777 OMIM:613454 OMIM:618241 OMIM:616981 OMIM:606159 ORPHA:382 OMIM:231670 ORPHA:25 OMIM:233910 OMIM:608804 OMIM:615473 OMIM:617493 ORPHA:79443 OMIM:619603 OMIM:619580 OMIM:617988 OMIM:617065 OMIM:309541 OMIM:300322 ORPHA:391428 OMIM:300438 OMIM:612233 OMIM:618451 OMIM:618088 ORPHA:37612 ORPHA:98809 OMIM:617235 OMIM:300055 OMIM:617282 OMIM:614249 ORPHA:67047 OMIM:615673 ORPHA:79312 ORPHA:289916 OMIM:617664 OMIM:616034 ORPHA:431361 OMIM:605013 OMIM:301020 OMIM:618249 OMIM:618247 OMIM:618238 ORPHA:404454 OMIM:615273 ORPHA:209905 OMIM:610978 OMIM:271930 OMIM:234200 OMIM:266150 ORPHA:31709 OMIM:213600 OMIM:615483 OMIM:312170 ORPHA:79351 ORPHA:280633 OMIM:614080 OMIM:239300 ORPHA:64753 OMIM:312080 ORPHA:280219 ORPHA:98810 OMIM:118800 ORPHA:319514 OMIM:614932 ORPHA:726 OMIM:619310 OMIM:618604 OMIM:602066 OMIM:128200 ORPHA:98811 ORPHA:13 OMIM:261640 OMIM:614438 OMIM:261630 OMIM:612951 OMIM:619317 ORPHA:2524 ORPHA:261197 OMIM:619922 OMIM:300523 ORPHA:59 OMIM:604369 OMIM:618416 ORPHA:71277 OMIM:601042 OMIM:606777 OMIM:612126 ORPHA:53583 OMIM:617595 OMIM:229050 ORPHA:52503 OMIM:257200 OMIM:612716 OMIM:617519 OMIM:609056 OMIM:612164 OMIM:612073 ORPHA:17 OMIM:272300 OMIM:618218 ORPHA:522077 OMIM:617698 OMIM:617964 OMIM:619653 OMIM:614969 OMIM:615356 OMIM:612438 OMIM:271245 OMIM:617132 OMIM:300857 OMIM:615159 OMIM:200150 OMIM:617710 ORPHA:572798 OMIM:278700 OMIM:616413
 

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