Human Phenotype Ontology 
Grandparent Node:
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Abnormal eye physiology (HP:0012373)help
Parent Node:
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Abnormality of eye movement (HP:0000496)help
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Abnormal saccadic eye movements (HP:0000570)help
Term ID: 570
Name: Abnormal saccadic eye movements
Synonym: Abnormality of saccadic eye movements; Impaired saccades
Definition: An abnormality of eye movement characterized by impairment of fast (saccadic) eye movements.
Comments:
Reference: HP:0000570
Genes and Diseases:
 
       Child Nodes:
........expandSlow saccadic eye movements (HP:0000514) help
................... HP:0007885 Slowed horizontal saccades
........expandHypometric saccades (HP:0000571) help
................... HP:0007975 Hypometric horizontal saccades
................... HP:0031833 Hypometric upward saccades
........expandDysmetric saccades (HP:0000641) help
........expandHypermetric saccades (HP:0007338) help
................... HP:0031832 Hypermetric downward saccades
........expandSquare-wave jerks (HP:0025402) help

 Sister Nodes: 
..expandAbnormal conjugate eye movement (HP:0000549) help
..expandAbnormal involuntary eye movements (HP:0012547) help
..expandAbnormal ocular alignment (HP:0500073) help
..expandAbnormal visual fixation (HP:0025404) help
..expandAbnormality of ocular abduction (HP:0011347) help
..expandAbnormality of ocular smooth pursuit (HP:0000617) help
..expandCompensatory head posture (HP:0031705) help
..expandImpaired ocular adduction (HP:0000542) help
..expandLimited extraocular movements (HP:0007941) help
..expandMarcus Gunn jaw winking synkinesis (HP:0025186) help
..expandOculomotor apraxia (HP:0000657) help
..expandOphthalmoparesis (HP:0000597) help
..expandVisual gaze preference (HP:0025518) 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:0000570HP:0000570Abnormal saccadic eye movements0AFG3L2 CL E G H10939315OMIM:610246Spinocerebellar ataxia 2886
HP:0000570HP:0000570Abnormal saccadic eye movements0AFG3L2 CL E G H10939315ORPHA:101109Spinocerebellar ataxia type 2886
HP:0000570HP:0000570Abnormal saccadic eye movements0AGTPBP1 CL E G H2328717258OMIM:618276Neurodegeneration, childhood-onset, with cerebellar atrophy1
HP:0000570HP:0000570Abnormal saccadic eye movements0ALS2 CL E G H57679443OMIM:607225Spastic paralysis, infantile-onset ascending114
HP:0000570HP:0000570Abnormal saccadic eye movements0ANO10 CL E G H5512925519ORPHA:284289Adult-onset autosomal recessive cerebellar ataxia64
HP:0000570HP:0000570Abnormal saccadic eye movements0ANO10 CL E G H5512925519OMIM:613728Spinocerebellar ataxia, autosomal recessive 1064
HP:0000570HP:0000570Abnormal saccadic eye movements0APTX CL E G H5484015984OMIM:208920Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia61
HP:0000570HP:0000570Abnormal saccadic eye movements0ATP13A2 CL E G H2340030213OMIM:606693Kufor-Rakeb syndrome100
HP:0000570HP:0000570Abnormal saccadic eye movements0ATP13A2 CL E G H2340030213ORPHA:306674Kufor-Rakeb syndrome100
HP:0000570HP:0000570Abnormal saccadic eye movements0ATP1A2 CL E G H477800ORPHA:2131Alternating hemiplegia of childhood239
HP:0000570HP:0000570Abnormal saccadic eye movements0ATP1A3 CL E G H478801ORPHA:2131Alternating hemiplegia of childhood150
HP:0000570HP:0000570Abnormal saccadic eye movements0ATP2B3 CL E G H492816OMIM:302500Spinocerebellar ataxia, X-linked 119
HP:0000570HP:0000570Abnormal saccadic eye movements0ATXN1 CL E G H631010548OMIM:164400Spinocerebellar ataxia 119
HP:0000570HP:0000570Abnormal saccadic eye movements0ATXN1 CL E G H631010548ORPHA:98755Spinocerebellar ataxia type 119
HP:0000570HP:0000570Abnormal saccadic eye movements0ATXN2 CL E G H631110555OMIM:183090Spinocerebellar ataxia 211
HP:0000570HP:0000570Abnormal saccadic eye movements0ATXN2 CL E G H631110555ORPHA:98756Spinocerebellar ataxia type 211
HP:0000570HP:0000570Abnormal saccadic eye movements0ATXN3 CL E G H42877106OMIM:109150Machado-Joseph disease14
HP:0000570HP:0000570Abnormal saccadic eye movements0ATXN7 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:0000570HP:0000570Abnormal saccadic eye movements0ATXN8 CL E G H72406632925OMIM:608768Spinocerebellar ataxia 81
HP:0000570HP:0000570Abnormal saccadic eye movements0ATXN8OS CL E G H631510561OMIM:608768Spinocerebellar ataxia 81
HP:0000570HP:0000570Abnormal saccadic eye movements0C19ORF12 CL E G H8363625443ORPHA:289560Mitochondrial membrane protein-associated neurodegenerationHP:0040283 - Occasional114
HP:0000570HP:0000570Abnormal saccadic eye movements0CACNA1A CL E G H7731388ORPHA:2131Alternating hemiplegia of childhood449
HP:0000570HP:0000570Abnormal saccadic eye movements0CACNA1G CL E G H89131394ORPHA:458803Spinocerebellar ataxia type 4232
HP:0000570HP:0000570Abnormal saccadic eye movements0CHP1 CL E G H1126117433OMIM:618438Spastic ataxia 9, autosomal recessive
HP:0000570HP:0000570Abnormal saccadic eye movements0CLCN7 CL E G H11862025ORPHA:667Autosomal recessive malignant osteopetrosis102
HP:0000570HP:0000570Abnormal saccadic eye movements0COQ5 CL E G H8427428722OMIM:619028COENZYME Q10 DEFICIENCY, PRIMARY, 9; COQ10D9
HP:0000570HP:0000570Abnormal saccadic eye movements0DARS2 CL E G H5515725538ORPHA:137898Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome60
HP:0000570HP:0000570Abnormal saccadic eye movements0DHX16 CL E G H84492739OMIM:618733NEUROMUSCULAR OCULOAUDITORY SYNDROME; NMOAS
HP:0000570HP:0000570Abnormal saccadic eye movements0DNAJC6 CL E G H982915469OMIM:615528Parkinson disease 19a, juvenile-onset6
HP:0000570HP:0000570Abnormal saccadic eye movements0EEF2 CL E G H19383214OMIM:609306Spinocerebellar ataxia 264
HP:0000570HP:0000570Abnormal saccadic eye movements0EEF2 CL E G H19383214ORPHA:101112Spinocerebellar ataxia type 264
HP:0000570HP:0000570Abnormal saccadic eye movements0ELOVL5 CL E G H6048121308OMIM:615957Spinocerebellar ataxia 384
HP:0000570HP:0000570Abnormal saccadic eye movements0ELOVL5 CL E G H6048121308ORPHA:423296Spinocerebellar ataxia type 384
HP:0000570HP:0000570Abnormal saccadic eye movements0FBXO7 CL E G H2579313586OMIM:260300Parkinson disease 15, autosomal recessive early-onset36
HP:0000570HP:0000570Abnormal saccadic eye movements0FBXO7 CL E G H2579313586ORPHA:171695Parkinsonian-pyramidal syndrome36
HP:0000570HP:0000570Abnormal saccadic eye movements0FRMD5 CL E G H8497828214OMIM:620094
HP:0000570HP:0000570Abnormal saccadic eye movements0FXN CL E G H23953951ORPHA:95Friedreich ataxiaHP:0040282 - Frequent18
HP:0000570HP:0000570Abnormal saccadic eye movements0GBA1 CL E G H26294177OMIM:231005Gaucher disease, type IIIC
HP:0000570HP:0000570Abnormal saccadic eye movements0GBA1 CL E G H26294177ORPHA:2072Gaucher disease-ophthalmoplegia-cardiovascular calcification syndromeHP:0040284 - Very rare
HP:0000570HP:0000570Abnormal saccadic eye movements0GBA2 CL E G H5770418986ORPHA:352641Autosomal recessive cerebellar ataxia with late-onset spasticityHP:0040282 - Frequent30
HP:0000570HP:0000570Abnormal saccadic eye movements0GDAP2 CL E G H5483418010OMIM:618369Spinocerebellar ataxia, autosomal recessive 27
HP:0000570HP:0000570Abnormal saccadic eye movements0GJC2 CL E G H5716517494OMIM:613206Spastic paraplegia 44, autosomal recessive37
HP:0000570HP:0000570Abnormal saccadic eye movements0GRM1 CL E G H29114593ORPHA:324262Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency8
HP:0000570HP:0000570Abnormal saccadic eye movements0GRM1 CL E G H29114593OMIM:617691SPINOCEREBELLAR ATAXIA 44; SCA448
HP:0000570HP:0000570Abnormal saccadic eye movements0GRM1 CL E G H29114593OMIM:614831SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13; SCAR138
HP:0000570HP:0000570Abnormal saccadic eye movements0INPP5E CL E G H5662321474OMIM:213300Joubert syndrome 1.111
HP:0000570HP:0000570Abnormal saccadic eye movements0ITPR1 CL E G H37086180OMIM:606658Spinocerebellar ataxia 15177
HP:0000570HP:0000570Abnormal saccadic eye movements0ITPR1 CL E G H37086180ORPHA:208513Spinocerebellar ataxia type 29HP:0040282 - Frequent177
HP:0000570HP:0000570Abnormal saccadic eye movements0KCNN2 CL E G H37816291OMIM:619724DYSTONIA 34, MYOCLONIC; DYT34
HP:0000570HP:0000570Abnormal saccadic eye movements0KIF1A CL E G H547888ORPHA:101010Autosomal spastic paraplegia type 30HP:0040282 - Frequent276
HP:0000570HP:0000570Abnormal saccadic eye movements0KIF1B CL E G H2309516636OMIM:256700Neuroblastoma, susceptibility to202
HP:0000570HP:0000570Abnormal saccadic eye movements0MAPT CL E G H41376893ORPHA:240071Classic progressive supranuclear palsy syndromeHP:0040282 - Frequent140
HP:0000570HP:0000570Abnormal saccadic eye movements0MAPT CL E G H41376893ORPHA:240103Progressive supranuclear palsy-corticobasal syndromeHP:0040282 - Frequent140
HP:0000570HP:0000570Abnormal saccadic eye movements0MAPT CL E G H41376893ORPHA:240085Progressive supranuclear palsy-parkinsonism syndromeHP:0040281 - Very frequent140
HP:0000570HP:0000570Abnormal saccadic eye movements0MAPT CL E G H41376893ORPHA:240094Progressive supranuclear palsy-pure akinesia with gait freezing syndrome.140
HP:0000570HP:0000570Abnormal saccadic eye movements0MECR CL E G H5110219691OMIM:617282Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities6
HP:0000570HP:0000570Abnormal saccadic eye movements0MFN2 CL E G H992716877OMIM:601152Hereditary motor and sensory neuropathy VI203
HP:0000570HP:0000570Abnormal saccadic eye movements0MME CL E G H43117154OMIM:617018SPINOCEREBELLAR ATAXIA 43; SCA4318
HP:0000570HP:0000570Abnormal saccadic eye movements0MME CL E G H43117154ORPHA:497764Spinocerebellar ataxia type 4318
HP:0000570HP:0000570Abnormal saccadic eye movements0MRE11 CL E G H43617230ORPHA:251347Ataxia-telangiectasia-like disorder532
HP:0000570HP:0000570Abnormal saccadic eye movements0MRE11 CL E G H43617230OMIM:604391Ataxia-Telangiectasia-Like disorder 1532
HP:0000570HP:0000570Abnormal saccadic eye movements0MYORG CL E G H5746219918OMIM:618317Basal ganglia calcification, idiopathic, 7, autosomal recessive
HP:0000570HP:0000570Abnormal saccadic eye movements0NDUFAF3 CL E G H2591529918ORPHA:70474Leigh syndrome with cardiomyopathyHP:0040283 - Occasional31
HP:0000570HP:0000570Abnormal saccadic eye movements0NDUFB8 CL E G H47147703ORPHA:70474Leigh syndrome with cardiomyopathyHP:0040283 - Occasional
HP:0000570HP:0000570Abnormal saccadic eye movements0NDUFS2 CL E G H47207708ORPHA:70474Leigh syndrome with cardiomyopathyHP:0040283 - Occasional65
HP:0000570HP:0000570Abnormal saccadic eye movements0NKX6-2 CL E G H8450419321ORPHA:527497NKX6-2-related autosomal recessive hypomyelinating leukodystrophy2
HP:0000570HP:0000570Abnormal saccadic eye movements0NKX6-2 CL E G H8450419321OMIM:617560Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy2
HP:0000570HP:0000570Abnormal saccadic eye movements0NOP56 CL E G H1052815911OMIM:614153Spinocerebellar ataxia 369
HP:0000570HP:0000570Abnormal saccadic eye movements0NOP56 CL E G H1052815911ORPHA:276198Spinocerebellar ataxia type 369
HP:0000570HP:0000570Abnormal saccadic eye movements0NPHP1 CL E G H48677905OMIM:609583Joubert syndrome 485
HP:0000570HP:0000570Abnormal saccadic eye movements0PDYN CL E G H51738820OMIM:610245Spinocerebellar ataxia 2352
HP:0000570HP:0000570Abnormal saccadic eye movements0PDYN CL E G H51738820ORPHA:101108Spinocerebellar ataxia type 2352
HP:0000570HP:0000570Abnormal saccadic eye movements0PEX10 CL E G H51928851OMIM:614871Peroxisome biogenesis disorder 6B75
HP:0000570HP:0000570Abnormal saccadic eye movements0PEX2 CL E G H58289717OMIM:614867Peroxisome biogenesis disorder 5B82
HP:0000570HP:0000570Abnormal saccadic eye movements0PIK3R5 CL E G H2353330035OMIM:615217Ataxia-Oculomotor apraxia 311
HP:0000570HP:0000570Abnormal saccadic eye movements0PLA2G6 CL E G H83989039ORPHA:199351Adult-onset dystonia-parkinsonism133
HP:0000570HP:0000570Abnormal saccadic eye movements0PLA2G6 CL E G H83989039OMIM:612953Parkinson disease 14, autosomal recessive133
HP:0000570HP:0000570Abnormal saccadic eye movements0PLD3 CL E G H2364617158OMIM:617770Spinocerebellar ataxia 462
HP:0000570HP:0000570Abnormal saccadic eye movements0PNKP CL E G H112849154ORPHA:459033Ataxia-oculomotor apraxia type 4HP:0040283 - Occasional244
HP:0000570HP:0000570Abnormal saccadic eye movements0PRDX3 CL E G H109359354OMIM:619862
HP:0000570HP:0000570Abnormal saccadic eye movements0PRNP CL E G H56219449ORPHA:157941Huntington disease-like 1HP:0040283 - Occasional69
HP:0000570HP:0000570Abnormal saccadic eye movements0SCO2 CL E G H999710604ORPHA:70474Leigh syndrome with cardiomyopathyHP:0040283 - Occasional40
HP:0000570HP:0000570Abnormal saccadic eye movements0SCP2 CL E G H634210606OMIM:613724Leukoencephalopathy with dystonia and motor neuropathy.4
HP:0000570HP:0000570Abnormal saccadic eye movements0SCYL1 CL E G H5741014372ORPHA:466794Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome5
HP:0000570HP:0000570Abnormal saccadic eye movements0SHMT2 CL E G H647210852OMIM:619121NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES; NEDCASB
HP:0000570HP:0000570Abnormal saccadic eye movements0SLC1A3 CL E G H650710941ORPHA:2131Alternating hemiplegia of childhood63
HP:0000570HP:0000570Abnormal saccadic eye movements0SLC1A3 CL E G H650710941OMIM:612656Episodic ataxia, type 663
HP:0000570HP:0000570Abnormal saccadic eye movements0SLC35A2 CL E G H735511022OMIM:300896Congenital disorder of glycosylation, type IIm27
HP:0000570HP:0000570Abnormal saccadic eye movements0SLC44A1 CL E G H2344618798OMIM:618868NEURODEGENERATION, CHILDHOOD-ONSET, WITH ATAXIA, TREMOR, OPTIC ATROPHY, AND COGNITIVE DECLINE; CONATOC1
HP:0000570HP:0000570Abnormal saccadic eye movements0SLC6A3 CL E G H653111049OMIM:613135Parkinsonism-Dystonia, infantile, 113
HP:0000570HP:0000570Abnormal saccadic eye movements0SNCA CL E G H662211138ORPHA:171695Parkinsonian-pyramidal syndrome65
HP:0000570HP:0000570Abnormal saccadic eye movements0SNX10 CL E G H2988714974ORPHA:667Autosomal recessive malignant osteopetrosis2
HP:0000570HP:0000570Abnormal saccadic eye movements0SOX3 CL E G H665811199ORPHA:67045X-linked intellectual disability with isolated growth hormone deficiencyHP:0040283 - Occasional24
HP:0000570HP:0000570Abnormal saccadic eye movements0SPTBN2 CL E G H671211276ORPHA:352403Spectrin-associated autosomal recessive cerebellar ataxia126
HP:0000570HP:0000570Abnormal saccadic eye movements0SPTBN2 CL E G H671211276OMIM:615386Spinocerebellar ataxia, autosomal recessive 14126
HP:0000570HP:0000570Abnormal saccadic eye movements0SURF1 CL E G H683411474ORPHA:70474Leigh syndrome with cardiomyopathyHP:0040283 - Occasional73
HP:0000570HP:0000570Abnormal saccadic eye movements0SYNE1 CL E G H2334517089ORPHA:88644Autosomal recessive ataxia, Beauce typeHP:0040283 - Occasional1129
HP:0000570HP:0000570Abnormal saccadic eye movements0SYT2 CL E G H12783311510OMIM:619461MYASTHENIC SYNDROME, CONGENITAL, 7B, PRESYNAPTIC, AUTOSOMAL RECESSIVE; CMS7B4
HP:0000570HP:0000570Abnormal saccadic eye movements0TCIRG1 CL E G H1031211647ORPHA:667Autosomal recessive malignant osteopetrosis82
HP:0000570HP:0000570Abnormal saccadic eye movements0TGM6 CL E G H34364116255OMIM:613908Spinocerebellar ataxia 3558
HP:0000570HP:0000570Abnormal saccadic eye movements0TGM6 CL E G H34364116255ORPHA:276193Spinocerebellar ataxia type 3558
HP:0000570HP:0000570Abnormal saccadic eye movements0TMEM216 CL E G H5125925018OMIM:608091Joubert syndrome 2.45
HP:0000570HP:0000570Abnormal saccadic eye movements0TMEM240 CL E G H33945325186OMIM:607454Spinocerebellar ataxia 219
HP:0000570HP:0000570Abnormal saccadic eye movements0TNFSF11 CL E G H860011926ORPHA:667Autosomal recessive malignant osteopetrosis44
HP:0000570HP:0000570Abnormal saccadic eye movements0TNR CL E G H714311953OMIM:619653NEURODEVELOPMENTAL DISORDER, NONPROGRESSIVE, WITH SPASTICITY AND TRANSIENT OPISTHOTONUS; NEDSTO7
HP:0000570HP:0000570Abnormal saccadic eye movements0TPP1 CL E G H12002073ORPHA:284324Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia203
HP:0000570HP:0000570Abnormal saccadic eye movements0TPP1 CL E G H12002073OMIM:609270Spinocerebellar ataxia, autosomal recessive 7203
HP:0000570HP:0000570Abnormal saccadic eye movements0TUBB3 CL E G H1038120772ORPHA:300570Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutationHP:0040283 - Occasional64
HP:0000570HP:0000570Abnormal saccadic eye movements0UBAP1 CL E G H5127112461OMIM:618418Spastic paraplegia 80, autosomal dominant
HP:0000570HP:0000570Abnormal saccadic eye movements0VAMP1 CL E G H684312642ORPHA:251282Autosomal dominant spastic ataxia type 12
HP:0000570HP:0000570Abnormal saccadic eye movements0VAMP1 CL E G H684312642OMIM:108600Spastic ataxia 1, autosomal dominant2
HP:0000570HP:0000570Abnormal saccadic eye movements0VPS13A CL E G H232301908ORPHA:2388Choreoacanthocytosis130
HP:0000570HP:0000570Abnormal saccadic eye movements0VPS13D CL E G H5518723595ORPHA:95434Autosomal recessive cerebellar ataxia-movement disorder syndromeHP:0040282 - Frequent
HP:0000570HP:0000570Abnormal saccadic eye movements0VPS13D CL E G H5518723595OMIM:607317Spinocerebellar ataxia, autosomal recessive 4
HP:0000570HP:0000570Abnormal saccadic eye movements0VPS41 CL E G H2707212713ORPHA:95434Autosomal recessive cerebellar ataxia-movement disorder syndromeHP:0040282 - Frequent
HP:0000570HP:0000570Abnormal saccadic eye movements0XRCC1 CL E G H751512828OMIM:617633Spinocerebellar ataxia, autosomal recessive 264
HP:0000570HP:0000514Slow saccadic eye movements1AFG3L2 CL E G H10939315OMIM:610246Spinocerebellar ataxia 28.86
HP:0000570HP:0000641Dysmetric saccades1AFG3L2 CL E G H10939315OMIM:610246Spinocerebellar ataxia 28.86
HP:0000570HP:0000514Slow saccadic eye movements1AFG3L2 CL E G H10939315ORPHA:101109Spinocerebellar ataxia type 28HP:0040282 - Frequent86
HP:0000570HP:0000514Slow saccadic eye movements1AGTPBP1 CL E G H2328717258OMIM:618276Neurodegeneration, childhood-onset, with cerebellar atrophy.1
HP:0000570HP:0000514Slow saccadic eye movements1ALS2 CL E G H57679443OMIM:607225Spastic paralysis, infantile-onset ascending.114
HP:0000570HP:0000641Dysmetric saccades1ANO10 CL E G H5512925519ORPHA:284289Adult-onset autosomal recessive cerebellar ataxiaHP:0040282 - Frequent64
HP:0000570HP:0007338Hypermetric saccades1ANO10 CL E G H5512925519OMIM:613728Spinocerebellar ataxia, autosomal recessive 10.64
HP:0000570HP:0000571Hypometric saccades1APTX CL E G H5484015984OMIM:208920Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia.61
HP:0000570HP:0000514Slow saccadic eye movements1ATP13A2 CL E G H2340030213OMIM:606693Kufor-Rakeb syndrome100
HP:0000570HP:0000514Slow saccadic eye movements1ATP13A2 CL E G H2340030213ORPHA:306674Kufor-Rakeb syndromeHP:0040281 - Very frequent100
HP:0000570HP:0032104Saccadic oscillation1ATP1A2 CL E G H477800ORPHA:2131Alternating hemiplegia of childhood239
HP:0000570HP:0032104Saccadic oscillation1ATP1A3 CL E G H478801ORPHA:2131Alternating hemiplegia of childhood150
HP:0000570HP:0000514Slow saccadic eye movements1ATP2B3 CL E G H492816OMIM:302500Spinocerebellar ataxia, X-linked 1.19
HP:0000570HP:0000641Dysmetric saccades1ATXN1 CL E G H631010548OMIM:164400Spinocerebellar ataxia 1.19
HP:0000570HP:0000514Slow saccadic eye movements1ATXN1 CL E G H631010548OMIM:164400Spinocerebellar ataxia 1.19
HP:0000570HP:0007338Hypermetric saccades1ATXN1 CL E G H631010548ORPHA:98755Spinocerebellar ataxia type 1HP:0040283 - Occasional19
HP:0000570HP:0000514Slow saccadic eye movements1ATXN1 CL E G H631010548ORPHA:98755Spinocerebellar ataxia type 1HP:0040282 - Frequent19
HP:0000570HP:0000514Slow saccadic eye movements1ATXN2 CL E G H631110555OMIM:183090Spinocerebellar ataxia 2.11
HP:0000570HP:0000641Dysmetric saccades1ATXN2 CL E G H631110555OMIM:183090Spinocerebellar ataxia 2.11
HP:0000570HP:0000514Slow saccadic eye movements1ATXN2 CL E G H631110555ORPHA:98756Spinocerebellar ataxia type 2HP:0040282 - Frequent11
HP:0000570HP:0000641Dysmetric saccades1ATXN3 CL E G H42877106OMIM:109150Machado-Joseph disease.14
HP:0000570HP:0000514Slow saccadic eye movements1ATXN7 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:0000570HP:0000514Slow saccadic eye movements1ATXN8 CL E G H72406632925OMIM:608768Spinocerebellar ataxia 8.1
HP:0000570HP:0000641Dysmetric saccades1ATXN8 CL E G H72406632925OMIM:608768Spinocerebellar ataxia 8.1
HP:0000570HP:0000514Slow saccadic eye movements1ATXN8OS CL E G H631510561OMIM:608768Spinocerebellar ataxia 8.1
HP:0000570HP:0000641Dysmetric saccades1ATXN8OS CL E G H631510561OMIM:608768Spinocerebellar ataxia 8.1
HP:0000570HP:0032104Saccadic oscillation1CACNA1A CL E G H7731388ORPHA:2131Alternating hemiplegia of childhood449
HP:0000570HP:0000571Hypometric saccades1CACNA1G CL E G H89131394ORPHA:458803Spinocerebellar ataxia type 42HP:0040283 - Occasional32
HP:0000570HP:0000514Slow saccadic eye movements1CHP1 CL E G H1126117433OMIM:618438Spastic ataxia 9, autosomal recessive.
HP:0000570HP:0032104Saccadic oscillation1CLCN7 CL E G H11862025ORPHA:667Autosomal recessive malignant osteopetrosis102
HP:0000570HP:0000514Slow saccadic eye movements1COQ5 CL E G H8427428722OMIM:619028COENZYME Q10 DEFICIENCY, PRIMARY, 9; COQ10D9
HP:0000570HP:0000571Hypometric saccades1COQ5 CL E G H8427428722OMIM:619028COENZYME Q10 DEFICIENCY, PRIMARY, 9; COQ10D9
HP:0000570HP:0000514Slow saccadic eye movements1DARS2 CL E G H5515725538ORPHA:137898Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndromeHP:0040284 - Very rare60
HP:0000570HP:0000514Slow saccadic eye movements1DHX16 CL E G H84492739OMIM:618733NEUROMUSCULAR OCULOAUDITORY SYNDROME; NMOAS
HP:0000570HP:0000571Hypometric saccades1DNAJC6 CL E G H982915469OMIM:615528Parkinson disease 19a, juvenile-onsetHP:0040283 - Occasional6
HP:0000570HP:0000641Dysmetric saccades1EEF2 CL E G H19383214OMIM:609306Spinocerebellar ataxia 26.4
HP:0000570HP:0000641Dysmetric saccades1EEF2 CL E G H19383214ORPHA:101112Spinocerebellar ataxia type 26HP:0040282 - Frequent4
HP:0000570HP:0000514Slow saccadic eye movements1ELOVL5 CL E G H6048121308OMIM:615957Spinocerebellar ataxia 38.4
HP:0000570HP:0000514Slow saccadic eye movements1ELOVL5 CL E G H6048121308ORPHA:423296Spinocerebellar ataxia type 38HP:0040282 - Frequent4
HP:0000570HP:0000514Slow saccadic eye movements1FBXO7 CL E G H2579313586OMIM:260300Parkinson disease 15, autosomal recessive early-onset.36
HP:0000570HP:0000514Slow saccadic eye movements1FBXO7 CL E G H2579313586ORPHA:171695Parkinsonian-pyramidal syndromeHP:0040282 - Frequent36
HP:0000570HP:0032104Saccadic oscillation1FRMD5 CL E G H8497828214OMIM:620094
HP:0000570HP:0000571Hypometric saccades1GBA1 CL E G H26294177OMIM:231005Gaucher disease, type IIIC
HP:0000570HP:0000514Slow saccadic eye movements1GBA1 CL E G H26294177OMIM:231005Gaucher disease, type IIIC
HP:0000570HP:0032104Saccadic oscillation1GBA1 CL E G H26294177ORPHA:2072Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
HP:0000570HP:0007338Hypermetric saccades1GDAP2 CL E G H5483418010OMIM:618369Spinocerebellar ataxia, autosomal recessive 27.
HP:0000570HP:0000514Slow saccadic eye movements1GJC2 CL E G H5716517494OMIM:613206Spastic paraplegia 44, autosomal recessive.37
HP:0000570HP:0000571Hypometric saccades1GRM1 CL E G H29114593ORPHA:324262Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiencyHP:0040282 - Frequent8
HP:0000570HP:0007338Hypermetric saccades1GRM1 CL E G H29114593OMIM:617691SPINOCEREBELLAR ATAXIA 44; SCA448
HP:0000570HP:0000571Hypometric saccades1GRM1 CL E G H29114593OMIM:614831SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13; SCAR138
HP:0000570HP:0000641Dysmetric saccades1ITPR1 CL E G H37086180OMIM:606658Spinocerebellar ataxia 15.177
HP:0000570HP:0007338Hypermetric saccades1KCNN2 CL E G H37816291OMIM:619724DYSTONIA 34, MYOCLONIC; DYT34
HP:0000570HP:0032104Saccadic oscillation1KIF1B CL E G H2309516636OMIM:256700Neuroblastoma, susceptibility to202
HP:0000570HP:0000514Slow saccadic eye movements1MAPT CL E G H41376893ORPHA:240071Classic progressive supranuclear palsy syndromeHP:0040282 - Frequent140
HP:0000570HP:0000514Slow saccadic eye movements1MAPT CL E G H41376893ORPHA:240103Progressive supranuclear palsy-corticobasal syndromeHP:0040281 - Very frequent140
HP:0000570HP:0000571Hypometric saccades1MAPT CL E G H41376893ORPHA:240094Progressive supranuclear palsy-pure akinesia with gait freezing syndromeHP:0040284 - Very rare140
HP:0000570HP:0000514Slow saccadic eye movements1MECR CL E G H5110219691OMIM:617282Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities6
HP:0000570HP:0000641Dysmetric saccades1MFN2 CL E G H992716877OMIM:601152Hereditary motor and sensory neuropathy VI.203
HP:0000570HP:0000571Hypometric saccades1MME CL E G H43117154OMIM:617018SPINOCEREBELLAR ATAXIA 43; SCA4318
HP:0000570HP:0000571Hypometric saccades1MME CL E G H43117154ORPHA:497764Spinocerebellar ataxia type 43HP:0040282 - Frequent18
HP:0000570HP:0000641Dysmetric saccades1MRE11 CL E G H43617230ORPHA:251347Ataxia-telangiectasia-like disorderHP:0040283 - Occasional532
HP:0000570HP:0000514Slow saccadic eye movements1MRE11 CL E G H43617230ORPHA:251347Ataxia-telangiectasia-like disorderHP:0040282 - Frequent532
HP:0000570HP:0000571Hypometric saccades1MRE11 CL E G H43617230OMIM:604391Ataxia-Telangiectasia-Like disorder 1.532
HP:0000570HP:0000571Hypometric saccades1MYORG CL E G H5746219918OMIM:618317Basal ganglia calcification, idiopathic, 7, autosomal recessive.
HP:0000570HP:0000571Hypometric saccades1NKX6-2 CL E G H8450419321ORPHA:527497NKX6-2-related autosomal recessive hypomyelinating leukodystrophyHP:0040281 - Very frequent2
HP:0000570HP:0000571Hypometric saccades1NKX6-2 CL E G H8450419321OMIM:617560Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy.2
HP:0000570HP:0000514Slow saccadic eye movements1NOP56 CL E G H1052815911OMIM:614153Spinocerebellar ataxia 369
HP:0000570HP:0000514Slow saccadic eye movements1NOP56 CL E G H1052815911ORPHA:276198Spinocerebellar ataxia type 36HP:0040282 - Frequent9
HP:0000570HP:0000571Hypometric saccades1NPHP1 CL E G H48677905OMIM:609583Joubert syndrome 4.85
HP:0000570HP:0000514Slow saccadic eye movements1PDYN CL E G H51738820OMIM:610245Spinocerebellar ataxia 23.52
HP:0000570HP:0000514Slow saccadic eye movements1PDYN CL E G H51738820ORPHA:101108Spinocerebellar ataxia type 23HP:0040282 - Frequent52
HP:0000570HP:0000641Dysmetric saccades1PEX10 CL E G H51928851OMIM:614871Peroxisome biogenesis disorder 6B.75
HP:0000570HP:0000514Slow saccadic eye movements1PEX2 CL E G H58289717OMIM:614867Peroxisome biogenesis disorder 5B.82
HP:0000570HP:0000514Slow saccadic eye movements1PIK3R5 CL E G H2353330035OMIM:615217Ataxia-Oculomotor apraxia 3.11
HP:0000570HP:0000571Hypometric saccades1PLA2G6 CL E G H83989039ORPHA:199351Adult-onset dystonia-parkinsonismHP:0040282 - Frequent133
HP:0000570HP:0000571Hypometric saccades1PLA2G6 CL E G H83989039OMIM:612953Parkinson disease 14, autosomal recessive133
HP:0000570HP:0000514Slow saccadic eye movements1PLD3 CL E G H2364617158OMIM:617770Spinocerebellar ataxia 46.2
HP:0000570HP:0007338Hypermetric saccades1PRDX3 CL E G H109359354OMIM:619862
HP:0000570HP:0000514Slow saccadic eye movements1PRNP CL E G H56219449ORPHA:157941Huntington disease-like 1HP:0040283 - Occasional69
HP:0000570HP:0000641Dysmetric saccades1SCYL1 CL E G H5741014372ORPHA:466794Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndromeHP:0040282 - Frequent5
HP:0000570HP:0000514Slow saccadic eye movements1SHMT2 CL E G H647210852OMIM:619121NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES; NEDCASB
HP:0000570HP:0032104Saccadic oscillation1SLC1A3 CL E G H650710941ORPHA:2131Alternating hemiplegia of childhood63
HP:0000570HP:0000571Hypometric saccades1SLC1A3 CL E G H650710941OMIM:612656Episodic ataxia, type 6HP:0040283 - Occasional63
HP:0000570HP:0032104Saccadic oscillation1SLC35A2 CL E G H735511022OMIM:300896Congenital disorder of glycosylation, type IIm27
HP:0000570HP:0000514Slow saccadic eye movements1SLC44A1 CL E G H2344618798OMIM:618868NEURODEGENERATION, CHILDHOOD-ONSET, WITH ATAXIA, TREMOR, OPTIC ATROPHY, AND COGNITIVE DECLINE; CONATOC1
HP:0000570HP:0032104Saccadic oscillation1SLC6A3 CL E G H653111049OMIM:613135Parkinsonism-Dystonia, infantile, 113
HP:0000570HP:0000514Slow saccadic eye movements1SNCA CL E G H662211138ORPHA:171695Parkinsonian-pyramidal syndromeHP:0040282 - Frequent65
HP:0000570HP:0032104Saccadic oscillation1SNX10 CL E G H2988714974ORPHA:667Autosomal recessive malignant osteopetrosis2
HP:0000570HP:0000641Dysmetric saccades1SPTBN2 CL E G H671211276ORPHA:352403Spectrin-associated autosomal recessive cerebellar ataxiaHP:0040283 - Occasional126
HP:0000570HP:0000571Hypometric saccades1SPTBN2 CL E G H671211276OMIM:615386Spinocerebellar ataxia, autosomal recessive 14HP:0040283 - Occasional126
HP:0000570HP:0032114Saccadic intrusion1SYNE1 CL E G H2334517089ORPHA:88644Autosomal recessive ataxia, Beauce type1129
HP:0000570HP:0000514Slow saccadic eye movements1SYT2 CL E G H12783311510OMIM:619461MYASTHENIC SYNDROME, CONGENITAL, 7B, PRESYNAPTIC, AUTOSOMAL RECESSIVE; CMS7B4
HP:0000570HP:0032104Saccadic oscillation1TCIRG1 CL E G H1031211647ORPHA:667Autosomal recessive malignant osteopetrosis82
HP:0000570HP:0000514Slow saccadic eye movements1TGM6 CL E G H34364116255OMIM:613908Spinocerebellar ataxia 3558
HP:0000570HP:0000641Dysmetric saccades1TGM6 CL E G H34364116255ORPHA:276193Spinocerebellar ataxia type 35HP:0040283 - Occasional58
HP:0000570HP:0032104Saccadic oscillation1TMEM240 CL E G H33945325186OMIM:607454Spinocerebellar ataxia 219
HP:0000570HP:0000514Slow saccadic eye movements1TMEM240 CL E G H33945325186OMIM:607454Spinocerebellar ataxia 21.9
HP:0000570HP:0007338Hypermetric saccades1TMEM240 CL E G H33945325186OMIM:607454Spinocerebellar ataxia 219
HP:0000570HP:0032104Saccadic oscillation1TNFSF11 CL E G H860011926ORPHA:667Autosomal recessive malignant osteopetrosis44
HP:0000570HP:0000514Slow saccadic eye movements1TNR CL E G H714311953OMIM:619653NEURODEVELOPMENTAL DISORDER, NONPROGRESSIVE, WITH SPASTICITY AND TRANSIENT OPISTHOTONUS; NEDSTO7
HP:0000570HP:0000641Dysmetric saccades1TPP1 CL E G H12002073ORPHA:284324Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxiaHP:0040282 - Frequent203
HP:0000570HP:0007338Hypermetric saccades1TPP1 CL E G H12002073OMIM:609270Spinocerebellar ataxia, autosomal recessive 7.203
HP:0000570HP:0000641Dysmetric saccades1UBAP1 CL E G H5127112461OMIM:618418Spastic paraplegia 80, autosomal dominantHP:0040284 - Very rare
HP:0000570HP:0000514Slow saccadic eye movements1VAMP1 CL E G H684312642ORPHA:251282Autosomal dominant spastic ataxia type 1HP:0040282 - Frequent2
HP:0000570HP:0000514Slow saccadic eye movements1VAMP1 CL E G H684312642OMIM:108600Spastic ataxia 1, autosomal dominant.2
HP:0000570HP:0032114Saccadic intrusion1VPS13A CL E G H232301908ORPHA:2388Choreoacanthocytosis130
HP:0000570HP:0000514Slow saccadic eye movements1VPS13A CL E G H232301908ORPHA:2388ChoreoacanthocytosisHP:0040283 - Occasional130
HP:0000570HP:0007338Hypermetric saccades1VPS13D CL E G H5518723595ORPHA:95434Autosomal recessive cerebellar ataxia-movement disorder syndromeHP:0040282 - Frequent
HP:0000570HP:0032104Saccadic oscillation1VPS13D CL E G H5518723595OMIM:607317Spinocerebellar ataxia, autosomal recessive 4
HP:0000570HP:0007338Hypermetric saccades1VPS13D CL E G H5518723595OMIM:607317Spinocerebellar ataxia, autosomal recessive 4.
HP:0000570HP:0007338Hypermetric saccades1VPS41 CL E G H2707212713ORPHA:95434Autosomal recessive cerebellar ataxia-movement disorder syndromeHP:0040282 - Frequent
HP:0000570HP:0007338Hypermetric saccades1XRCC1 CL E G H751512828OMIM:617633Spinocerebellar ataxia, autosomal recessive 26.4
HP:0000570HP:0032013Hypermetric horizontal saccades2 CL E G H
HP:0000570HP:0031832Hypermetric downward saccades2 CL E G H
HP:0000570HP:0032116Macrosquare-wave jerks2 CL E G H
HP:0000570HP:0032015Dysmetric horizontal saccades2 CL E G H
HP:0000570HP:0032014Dysmetric vertical saccades2 CL E G H
HP:0000570HP:0031931Ocular flutter2ATP1A2 CL E G H477800ORPHA:2131Alternating hemiplegia of childhoodHP:0040283 - Occasional239
HP:0000570HP:0031931Ocular flutter2ATP1A3 CL E G H478801ORPHA:2131Alternating hemiplegia of childhoodHP:0040283 - Occasional150
HP:0000570HP:0031931Ocular flutter2CACNA1A CL E G H7731388ORPHA:2131Alternating hemiplegia of childhoodHP:0040283 - Occasional449
HP:0000570HP:0010543Opsoclonus2CLCN7 CL E G H11862025ORPHA:667Autosomal recessive malignant osteopetrosisHP:0040281 - Very frequent102
HP:0000570HP:0010543Opsoclonus2FRMD5 CL E G H8497828214OMIM:620094
HP:0000570HP:0007885Slowed horizontal saccades2GBA1 CL E G H26294177OMIM:231005Gaucher disease, type IIIC.
HP:0000570HP:0007975Hypometric horizontal saccades2GBA1 CL E G H26294177OMIM:231005Gaucher disease, type IIIC.
HP:0000570HP:0010543Opsoclonus2GBA1 CL E G H26294177ORPHA:2072Gaucher disease-ophthalmoplegia-cardiovascular calcification syndromeHP:0040284 - Very rare
HP:0000570HP:0010543Opsoclonus2KIF1B CL E G H2309516636OMIM:256700Neuroblastoma, susceptibility to.202
HP:0000570HP:0007885Slowed horizontal saccades2MAPT CL E G H41376893ORPHA:240103Progressive supranuclear palsy-corticobasal syndromeHP:0040282 - Frequent140
HP:0000570HP:0031833Hypometric upward saccades2PLA2G6 CL E G H83989039OMIM:612953Parkinson disease 14, autosomal recessive133
HP:0000570HP:0031931Ocular flutter2SLC1A3 CL E G H650710941ORPHA:2131Alternating hemiplegia of childhoodHP:0040283 - Occasional63
HP:0000570HP:0031931Ocular flutter2SLC35A2 CL E G H735511022OMIM:300896Congenital disorder of glycosylation, type IIm.27
HP:0000570HP:0031931Ocular flutter2SLC6A3 CL E G H653111049OMIM:613135Parkinsonism-Dystonia, infantile, 1.13
HP:0000570HP:0010543Opsoclonus2SNX10 CL E G H2988714974ORPHA:667Autosomal recessive malignant osteopetrosisHP:0040281 - Very frequent2
HP:0000570HP:0025402Square-wave jerks2SYNE1 CL E G H2334517089ORPHA:88644Autosomal recessive ataxia, Beauce typeHP:0040283 - Occasional1129
HP:0000570HP:0010543Opsoclonus2TCIRG1 CL E G H1031211647ORPHA:667Autosomal recessive malignant osteopetrosisHP:0040281 - Very frequent82
HP:0000570HP:0010543Opsoclonus2TMEM240 CL E G H33945325186OMIM:607454Spinocerebellar ataxia 219
HP:0000570HP:0010543Opsoclonus2TNFSF11 CL E G H860011926ORPHA:667Autosomal recessive malignant osteopetrosisHP:0040281 - Very frequent44
HP:0000570HP:0025402Square-wave jerks2VPS13A CL E G H232301908ORPHA:2388ChoreoacanthocytosisHP:0040282 - Frequent130
HP:0000570HP:0032105Macrosaccadic oscillations2VPS13D CL E G H5518723595OMIM:607317Spinocerebellar ataxia, autosomal recessive 4.


Genes (89) :AFG3L2 AGTPBP1 ALS2 ANO10 APTX ATP13A2 ATP1A2 ATP1A3 ATP2B3 ATXN1 ATXN2 ATXN3 ATXN7 ATXN8 ATXN8OS C19ORF12 CACNA1A CACNA1G CHP1 CLCN7 COQ5 DARS2 DHX16 DNAJC6 EEF2 ELOVL5 FBXO7 FRMD5 FXN GBA1 GBA2 GDAP2 GJC2 GRM1 INPP5E ITPR1 KCNN2 KIF1A KIF1B MAPT MECR MFN2 MME MRE11 MYORG NDUFAF3 NDUFB8 NDUFS2 NKX6-2 NOP56 NPHP1 PDYN PEX10 PEX2 PIK3R5 PLA2G6 PLD3 PNKP PRDX3 PRNP SCO2 SCP2 SCYL1 SHMT2 SLC1A3 SLC35A2 SLC44A1 SLC6A3 SNCA SNX10 SOX3 SPTBN2 SURF1 SYNE1 SYT2 TCIRG1 TGM6 TMEM216 TMEM240 TNFSF11 TNR TPP1 TUBB3 UBAP1 VAMP1 VPS13A VPS13D VPS41 XRCC1

Diseases (103) :OMIM:610246 ORPHA:101109 OMIM:618276 OMIM:607225 ORPHA:284289 OMIM:613728 OMIM:208920 OMIM:606693 ORPHA:306674 ORPHA:2131 OMIM:302500 OMIM:164400 ORPHA:98755 OMIM:183090 ORPHA:98756 OMIM:109150 OMIM:164500 OMIM:608768 ORPHA:289560 ORPHA:458803 OMIM:618438 ORPHA:667 OMIM:619028 ORPHA:137898 OMIM:618733 OMIM:615528 OMIM:609306 ORPHA:101112 OMIM:615957 ORPHA:423296 OMIM:260300 ORPHA:171695 OMIM:620094 ORPHA:95 OMIM:231005 ORPHA:2072 ORPHA:352641 OMIM:618369 OMIM:613206 ORPHA:324262 OMIM:617691 OMIM:614831 OMIM:213300 OMIM:606658 ORPHA:208513 OMIM:619724 ORPHA:101010 OMIM:256700 ORPHA:240071 ORPHA:240103 ORPHA:240085 ORPHA:240094 OMIM:617282 OMIM:601152 OMIM:617018 ORPHA:497764 ORPHA:251347 OMIM:604391 OMIM:618317 ORPHA:70474 ORPHA:527497 OMIM:617560 OMIM:614153 ORPHA:276198 OMIM:609583 OMIM:610245 ORPHA:101108 OMIM:614871 OMIM:614867 OMIM:615217 ORPHA:199351 OMIM:612953 OMIM:617770 ORPHA:459033 OMIM:619862 ORPHA:157941 OMIM:613724 ORPHA:466794 OMIM:619121 OMIM:612656 OMIM:300896 OMIM:618868 OMIM:613135 ORPHA:67045 ORPHA:352403 OMIM:615386 ORPHA:88644 OMIM:619461 OMIM:613908 ORPHA:276193 OMIM:608091 OMIM:607454 OMIM:619653 ORPHA:284324 OMIM:609270 ORPHA:300570 OMIM:618418 ORPHA:251282 OMIM:108600 ORPHA:2388 ORPHA:95434 OMIM:607317 OMIM:617633
 

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