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
..Starting node
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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 entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0000570HP:0000570Abnormal saccadic eye movements0FXN CL E G H239595ORPHA11313951606829
HP:0000570HP:0000570Abnormal saccadic eye movements0GBA2 CL E G H57704352641ORPHA126218986609471
HP:0000570HP:0000570Abnormal saccadic eye movements0GBA2 CL E G H57704352641ORPHA124618986609471
HP:0000570HP:0000570Abnormal saccadic eye movements0INPP5E CL E G H56623213300Joubert syndrome 1213300CN119531OMIM146621474613037
HP:0000570HP:0000570Abnormal saccadic eye movements0INPP5E CL E G H56623213300Joubert syndrome 1213300CN119531OMIM155921474613037
HP:0000570HP:0000570Abnormal saccadic eye movements0ITPR1 CL E G H3708208513ORPHA19696180147265
HP:0000570HP:0000570Abnormal saccadic eye movements0ITPR1 CL E G H3708208513ORPHA18956180147265
HP:0000570HP:0000570Abnormal saccadic eye movements0KIF1A CL E G H547101010ORPHA11735888601255
HP:0000570HP:0000570Abnormal saccadic eye movements0KIF1A CL E G H547101010ORPHA11441888601255
HP:0000570HP:0000570Abnormal saccadic eye movements0SCP2 CL E G H6342613724Leukoencephalopathy with dystonia and motor neuropathy613724C3150990OMIM112710606184755
HP:0000570HP:0000570Abnormal saccadic eye movements0SCP2 CL E G H6342613724Leukoencephalopathy with dystonia and motor neuropathy613724C3150990OMIM121210606184755
HP:0000570HP:0000570Abnormal saccadic eye movements0TMEM216 CL E G H51259608091Joubert syndrome 2608091C1842577OMIM116825018613277
HP:0000570HP:0000570Abnormal saccadic eye movements0TMEM216 CL E G H51259608091Joubert syndrome 2608091C1842577OMIM115125018613277
HP:0000570HP:0032104Saccadic oscillation1FXN CL E G H239595ORPHA11313951606829
HP:0000570HP:0000641Dysmetric saccades1FXN CL E G H239595ORPHA11313951606829
HP:0000570HP:0007338Hypermetric saccades1FXN CL E G H239595ORPHA11313951606829
HP:0000570HP:0000514Slow saccadic eye movements1FXN CL E G H239595ORPHA11313951606829
HP:0000570HP:0000571Hypometric saccades1FXN CL E G H239595ORPHA11313951606829
HP:0000570HP:0032114Saccadic intrusion1FXN CL E G H239595ORPHA11313951606829
HP:0000570HP:0007338Hypermetric saccades1GBA2 CL E G H57704352641ORPHA126218986609471
HP:0000570HP:0032114Saccadic intrusion1GBA2 CL E G H57704352641ORPHA126218986609471
HP:0000570HP:0007338Hypermetric saccades1GBA2 CL E G H57704352641ORPHA124618986609471
HP:0000570HP:0032114Saccadic intrusion1GBA2 CL E G H57704352641ORPHA124618986609471
HP:0000570HP:0032104Saccadic oscillation1GBA2 CL E G H57704352641ORPHA126218986609471
HP:0000570HP:0000514Slow saccadic eye movements1GBA2 CL E G H57704352641ORPHA126218986609471
HP:0000570HP:0000571Hypometric saccades1GBA2 CL E G H57704352641ORPHA126218986609471
HP:0000570HP:0000641Dysmetric saccades1GBA2 CL E G H57704352641ORPHA126218986609471
HP:0000570HP:0032104Saccadic oscillation1GBA2 CL E G H57704352641ORPHA124618986609471
HP:0000570HP:0000514Slow saccadic eye movements1GBA2 CL E G H57704352641ORPHA124618986609471
HP:0000570HP:0000571Hypometric saccades1GBA2 CL E G H57704352641ORPHA124618986609471
HP:0000570HP:0000641Dysmetric saccades1GBA2 CL E G H57704352641ORPHA124618986609471
HP:0000570HP:0000571Hypometric saccades1INPP5E CL E G H56623213300Joubert syndrome 1213300CN119531OMIM146621474613037
HP:0000570HP:0000641Dysmetric saccades1INPP5E CL E G H56623213300Joubert syndrome 1213300CN119531OMIM146621474613037
HP:0000570HP:0032104Saccadic oscillation1INPP5E CL E G H56623213300Joubert syndrome 1213300CN119531OMIM146621474613037
HP:0000570HP:0000514Slow saccadic eye movements1INPP5E CL E G H56623213300Joubert syndrome 1213300CN119531OMIM146621474613037
HP:0000570HP:0032114Saccadic intrusion1INPP5E CL E G H56623213300Joubert syndrome 1213300CN119531OMIM155921474613037
HP:0000570HP:0007338Hypermetric saccades1INPP5E CL E G H56623213300Joubert syndrome 1213300CN119531OMIM155921474613037
HP:0000570HP:0032114Saccadic intrusion1INPP5E CL E G H56623213300Joubert syndrome 1213300CN119531OMIM146621474613037
HP:0000570HP:0007338Hypermetric saccades1INPP5E CL E G H56623213300Joubert syndrome 1213300CN119531OMIM146621474613037
HP:0000570HP:0000514Slow saccadic eye movements1INPP5E CL E G H56623213300Joubert syndrome 1213300CN119531OMIM155921474613037
HP:0000570HP:0000571Hypometric saccades1INPP5E CL E G H56623213300Joubert syndrome 1213300CN119531OMIM155921474613037
HP:0000570HP:0000641Dysmetric saccades1INPP5E CL E G H56623213300Joubert syndrome 1213300CN119531OMIM155921474613037
HP:0000570HP:0032104Saccadic oscillation1INPP5E CL E G H56623213300Joubert syndrome 1213300CN119531OMIM155921474613037
HP:0000570HP:0000514Slow saccadic eye movements1ITPR1 CL E G H3708208513ORPHA19696180147265
HP:0000570HP:0000571Hypometric saccades1ITPR1 CL E G H3708208513ORPHA19696180147265
HP:0000570HP:0000641Dysmetric saccades1ITPR1 CL E G H3708208513ORPHA19696180147265
HP:0000570HP:0032104Saccadic oscillation1ITPR1 CL E G H3708208513ORPHA19696180147265
HP:0000570HP:0000514Slow saccadic eye movements1ITPR1 CL E G H3708208513ORPHA18956180147265
HP:0000570HP:0000571Hypometric saccades1ITPR1 CL E G H3708208513ORPHA18956180147265
HP:0000570HP:0000641Dysmetric saccades1ITPR1 CL E G H3708208513ORPHA18956180147265
HP:0000570HP:0032104Saccadic oscillation1ITPR1 CL E G H3708208513ORPHA18956180147265
HP:0000570HP:0007338Hypermetric saccades1ITPR1 CL E G H3708208513ORPHA19696180147265
HP:0000570HP:0032114Saccadic intrusion1ITPR1 CL E G H3708208513ORPHA19696180147265
HP:0000570HP:0032114Saccadic intrusion1ITPR1 CL E G H3708208513ORPHA18956180147265
HP:0000570HP:0007338Hypermetric saccades1ITPR1 CL E G H3708208513ORPHA18956180147265
HP:0000570HP:0032114Saccadic intrusion1KIF1A CL E G H547101010ORPHA11735888601255
HP:0000570HP:0007338Hypermetric saccades1KIF1A CL E G H547101010ORPHA11735888601255
HP:0000570HP:0032114Saccadic intrusion1KIF1A CL E G H547101010ORPHA11441888601255
HP:0000570HP:0007338Hypermetric saccades1KIF1A CL E G H547101010ORPHA11441888601255
HP:0000570HP:0000514Slow saccadic eye movements1KIF1A CL E G H547101010ORPHA11735888601255
HP:0000570HP:0000571Hypometric saccades1KIF1A CL E G H547101010ORPHA11735888601255
HP:0000570HP:0000641Dysmetric saccades1KIF1A CL E G H547101010ORPHA11735888601255
HP:0000570HP:0032104Saccadic oscillation1KIF1A CL E G H547101010ORPHA11735888601255
HP:0000570HP:0000514Slow saccadic eye movements1KIF1A CL E G H547101010ORPHA11441888601255
HP:0000570HP:0000571Hypometric saccades1KIF1A CL E G H547101010ORPHA11441888601255
HP:0000570HP:0000641Dysmetric saccades1KIF1A CL E G H547101010ORPHA11441888601255
HP:0000570HP:0032104Saccadic oscillation1KIF1A CL E G H547101010ORPHA11441888601255
HP:0000570HP:0000514Slow saccadic eye movements1SCP2 CL E G H6342613724Leukoencephalopathy with dystonia and motor neuropathy613724C3150990OMIM112710606184755
HP:0000570HP:0000571Hypometric saccades1SCP2 CL E G H6342613724Leukoencephalopathy with dystonia and motor neuropathy613724C3150990OMIM112710606184755
HP:0000570HP:0000641Dysmetric saccades1SCP2 CL E G H6342613724Leukoencephalopathy with dystonia and motor neuropathy613724C3150990OMIM112710606184755
HP:0000570HP:0032104Saccadic oscillation1SCP2 CL E G H6342613724Leukoencephalopathy with dystonia and motor neuropathy613724C3150990OMIM112710606184755
HP:0000570HP:0032114Saccadic intrusion1SCP2 CL E G H6342613724Leukoencephalopathy with dystonia and motor neuropathy613724C3150990OMIM121210606184755
HP:0000570HP:0007338Hypermetric saccades1SCP2 CL E G H6342613724Leukoencephalopathy with dystonia and motor neuropathy613724C3150990OMIM121210606184755
HP:0000570HP:0032114Saccadic intrusion1SCP2 CL E G H6342613724Leukoencephalopathy with dystonia and motor neuropathy613724C3150990OMIM112710606184755
HP:0000570HP:0007338Hypermetric saccades1SCP2 CL E G H6342613724Leukoencephalopathy with dystonia and motor neuropathy613724C3150990OMIM112710606184755
HP:0000570HP:0000514Slow saccadic eye movements1SCP2 CL E G H6342613724Leukoencephalopathy with dystonia and motor neuropathy613724C3150990OMIM121210606184755
HP:0000570HP:0000571Hypometric saccades1SCP2 CL E G H6342613724Leukoencephalopathy with dystonia and motor neuropathy613724C3150990OMIM121210606184755
HP:0000570HP:0000641Dysmetric saccades1SCP2 CL E G H6342613724Leukoencephalopathy with dystonia and motor neuropathy613724C3150990OMIM121210606184755
HP:0000570HP:0032104Saccadic oscillation1SCP2 CL E G H6342613724Leukoencephalopathy with dystonia and motor neuropathy613724C3150990OMIM121210606184755
HP:0000570HP:0032114Saccadic intrusion1TMEM216 CL E G H51259608091Joubert syndrome 2608091C1842577OMIM115125018613277
HP:0000570HP:0007338Hypermetric saccades1TMEM216 CL E G H51259608091Joubert syndrome 2608091C1842577OMIM115125018613277
HP:0000570HP:0000514Slow saccadic eye movements1TMEM216 CL E G H51259608091Joubert syndrome 2608091C1842577OMIM116825018613277
HP:0000570HP:0000571Hypometric saccades1TMEM216 CL E G H51259608091Joubert syndrome 2608091C1842577OMIM116825018613277
HP:0000570HP:0000641Dysmetric saccades1TMEM216 CL E G H51259608091Joubert syndrome 2608091C1842577OMIM116825018613277
HP:0000570HP:0032104Saccadic oscillation1TMEM216 CL E G H51259608091Joubert syndrome 2608091C1842577OMIM116825018613277
HP:0000570HP:0000514Slow saccadic eye movements1TMEM216 CL E G H51259608091Joubert syndrome 2608091C1842577OMIM115125018613277
HP:0000570HP:0000571Hypometric saccades1TMEM216 CL E G H51259608091Joubert syndrome 2608091C1842577OMIM115125018613277
HP:0000570HP:0000641Dysmetric saccades1TMEM216 CL E G H51259608091Joubert syndrome 2608091C1842577OMIM115125018613277
HP:0000570HP:0032104Saccadic oscillation1TMEM216 CL E G H51259608091Joubert syndrome 2608091C1842577OMIM115125018613277
HP:0000570HP:0032114Saccadic intrusion1TMEM216 CL E G H51259608091Joubert syndrome 2608091C1842577OMIM116825018613277
HP:0000570HP:0007338Hypermetric saccades1TMEM216 CL E G H51259608091Joubert syndrome 2608091C1842577OMIM116825018613277
HP:0000570HP:0031832Hypermetric downward saccades2FXN CL E G H239595ORPHA11313951606829
HP:0000570HP:0031833Hypometric upward saccades2FXN CL E G H239595ORPHA11313951606829
HP:0000570HP:0025402Square-wave jerks2FXN CL E G H239595ORPHA11313951606829
HP:0000570HP:0007885Slowed horizontal saccades2FXN CL E G H239595ORPHA11313951606829
HP:0000570HP:0010543Opsoclonus2FXN CL E G H239595ORPHA11313951606829
HP:0000570HP:0007975Hypometric horizontal saccades2FXN CL E G H239595ORPHA11313951606829
HP:0000570HP:0032116Macrosquare-wave jerks2FXN CL E G H239595ORPHA11313951606829
HP:0000570HP:0031931Ocular flutter2FXN CL E G H239595ORPHA11313951606829
HP:0000570HP:0032014Dysmetric vertical saccades2FXN CL E G H239595ORPHA11313951606829
HP:0000570HP:0032105Macrosaccadic oscillations2FXN CL E G H239595ORPHA11313951606829
HP:0000570HP:0032015Dysmetric horizontal saccades2FXN CL E G H239595ORPHA11313951606829
HP:0000570HP:0032013Hypermetric horizontal saccades2FXN CL E G H239595ORPHA11313951606829
HP:0000570HP:0025402Square-wave jerks2GBA2 CL E G H57704352641ORPHA126218986609471
HP:0000570HP:0032105Macrosaccadic oscillations2GBA2 CL E G H57704352641ORPHA126218986609471
HP:0000570HP:0032013Hypermetric horizontal saccades2GBA2 CL E G H57704352641ORPHA126218986609471
HP:0000570HP:0007885Slowed horizontal saccades2GBA2 CL E G H57704352641ORPHA126218986609471
HP:0000570HP:0007975Hypometric horizontal saccades2GBA2 CL E G H57704352641ORPHA126218986609471
HP:0000570HP:0010543Opsoclonus2GBA2 CL E G H57704352641ORPHA126218986609471
HP:0000570HP:0032015Dysmetric horizontal saccades2GBA2 CL E G H57704352641ORPHA126218986609471
HP:0000570HP:0032105Macrosaccadic oscillations2GBA2 CL E G H57704352641ORPHA124618986609471
HP:0000570HP:0032013Hypermetric horizontal saccades2GBA2 CL E G H57704352641ORPHA124618986609471
HP:0000570HP:0007885Slowed horizontal saccades2GBA2 CL E G H57704352641ORPHA124618986609471
HP:0000570HP:0007975Hypometric horizontal saccades2GBA2 CL E G H57704352641ORPHA124618986609471
HP:0000570HP:0010543Opsoclonus2GBA2 CL E G H57704352641ORPHA124618986609471
HP:0000570HP:0032015Dysmetric horizontal saccades2GBA2 CL E G H57704352641ORPHA124618986609471
HP:0000570HP:0025402Square-wave jerks2GBA2 CL E G H57704352641ORPHA124618986609471
HP:0000570HP:0032014Dysmetric vertical saccades2GBA2 CL E G H57704352641ORPHA126218986609471
HP:0000570HP:0031832Hypermetric downward saccades2GBA2 CL E G H57704352641ORPHA126218986609471
HP:0000570HP:0031931Ocular flutter2GBA2 CL E G H57704352641ORPHA126218986609471
HP:0000570HP:0031833Hypometric upward saccades2GBA2 CL E G H57704352641ORPHA126218986609471
HP:0000570HP:0032116Macrosquare-wave jerks2GBA2 CL E G H57704352641ORPHA126218986609471
HP:0000570HP:0031832Hypermetric downward saccades2GBA2 CL E G H57704352641ORPHA124618986609471
HP:0000570HP:0031931Ocular flutter2GBA2 CL E G H57704352641ORPHA124618986609471
HP:0000570HP:0031833Hypometric upward saccades2GBA2 CL E G H57704352641ORPHA124618986609471
HP:0000570HP:0032116Macrosquare-wave jerks2GBA2 CL E G H57704352641ORPHA124618986609471
HP:0000570HP:0032014Dysmetric vertical saccades2GBA2 CL E G H57704352641ORPHA124618986609471
HP:0000570HP:0031931Ocular flutter2INPP5E CL E G H56623213300Joubert syndrome 1213300CN119531OMIM146621474613037
HP:0000570HP:0031833Hypometric upward saccades2INPP5E CL E G H56623213300Joubert syndrome 1213300CN119531OMIM146621474613037
HP:0000570HP:0032116Macrosquare-wave jerks2INPP5E CL E G H56623213300Joubert syndrome 1213300CN119531OMIM146621474613037
HP:0000570HP:0032014Dysmetric vertical saccades2INPP5E CL E G H56623213300Joubert syndrome 1213300CN119531OMIM146621474613037
HP:0000570HP:0031832Hypermetric downward saccades2INPP5E CL E G H56623213300Joubert syndrome 1213300CN119531OMIM146621474613037
HP:0000570HP:0032013Hypermetric horizontal saccades2INPP5E CL E G H56623213300Joubert syndrome 1213300CN119531OMIM155921474613037
HP:0000570HP:0007885Slowed horizontal saccades2INPP5E CL E G H56623213300Joubert syndrome 1213300CN119531OMIM155921474613037
HP:0000570HP:0007975Hypometric horizontal saccades2INPP5E CL E G H56623213300Joubert syndrome 1213300CN119531OMIM155921474613037
HP:0000570HP:0010543Opsoclonus2INPP5E CL E G H56623213300Joubert syndrome 1213300CN119531OMIM155921474613037
HP:0000570HP:0032015Dysmetric horizontal saccades2INPP5E CL E G H56623213300Joubert syndrome 1213300CN119531OMIM155921474613037
HP:0000570HP:0025402Square-wave jerks2INPP5E CL E G H56623213300Joubert syndrome 1213300CN119531OMIM155921474613037
HP:0000570HP:0032105Macrosaccadic oscillations2INPP5E CL E G H56623213300Joubert syndrome 1213300CN119531OMIM155921474613037
HP:0000570HP:0032013Hypermetric horizontal saccades2INPP5E CL E G H56623213300Joubert syndrome 1213300CN119531OMIM146621474613037
HP:0000570HP:0007885Slowed horizontal saccades2INPP5E CL E G H56623213300Joubert syndrome 1213300CN119531OMIM146621474613037
HP:0000570HP:0007975Hypometric horizontal saccades2INPP5E CL E G H56623213300Joubert syndrome 1213300CN119531OMIM146621474613037
HP:0000570HP:0010543Opsoclonus2INPP5E CL E G H56623213300Joubert syndrome 1213300CN119531OMIM146621474613037
HP:0000570HP:0032015Dysmetric horizontal saccades2INPP5E CL E G H56623213300Joubert syndrome 1213300CN119531OMIM146621474613037
HP:0000570HP:0025402Square-wave jerks2INPP5E CL E G H56623213300Joubert syndrome 1213300CN119531OMIM146621474613037
HP:0000570HP:0032105Macrosaccadic oscillations2INPP5E CL E G H56623213300Joubert syndrome 1213300CN119531OMIM146621474613037
HP:0000570HP:0031931Ocular flutter2INPP5E CL E G H56623213300Joubert syndrome 1213300CN119531OMIM155921474613037
HP:0000570HP:0031833Hypometric upward saccades2INPP5E CL E G H56623213300Joubert syndrome 1213300CN119531OMIM155921474613037
HP:0000570HP:0032116Macrosquare-wave jerks2INPP5E CL E G H56623213300Joubert syndrome 1213300CN119531OMIM155921474613037
HP:0000570HP:0032014Dysmetric vertical saccades2INPP5E CL E G H56623213300Joubert syndrome 1213300CN119531OMIM155921474613037
HP:0000570HP:0031832Hypermetric downward saccades2INPP5E CL E G H56623213300Joubert syndrome 1213300CN119531OMIM155921474613037
HP:0000570HP:0031832Hypermetric downward saccades2ITPR1 CL E G H3708208513ORPHA19696180147265
HP:0000570HP:0031931Ocular flutter2ITPR1 CL E G H3708208513ORPHA19696180147265
HP:0000570HP:0031833Hypometric upward saccades2ITPR1 CL E G H3708208513ORPHA19696180147265
HP:0000570HP:0032116Macrosquare-wave jerks2ITPR1 CL E G H3708208513ORPHA19696180147265
HP:0000570HP:0032014Dysmetric vertical saccades2ITPR1 CL E G H3708208513ORPHA19696180147265
HP:0000570HP:0031832Hypermetric downward saccades2ITPR1 CL E G H3708208513ORPHA18956180147265
HP:0000570HP:0031931Ocular flutter2ITPR1 CL E G H3708208513ORPHA18956180147265
HP:0000570HP:0031833Hypometric upward saccades2ITPR1 CL E G H3708208513ORPHA18956180147265
HP:0000570HP:0032116Macrosquare-wave jerks2ITPR1 CL E G H3708208513ORPHA18956180147265
HP:0000570HP:0032014Dysmetric vertical saccades2ITPR1 CL E G H3708208513ORPHA18956180147265
HP:0000570HP:0032105Macrosaccadic oscillations2ITPR1 CL E G H3708208513ORPHA19696180147265
HP:0000570HP:0032013Hypermetric horizontal saccades2ITPR1 CL E G H3708208513ORPHA19696180147265
HP:0000570HP:0007885Slowed horizontal saccades2ITPR1 CL E G H3708208513ORPHA19696180147265
HP:0000570HP:0007975Hypometric horizontal saccades2ITPR1 CL E G H3708208513ORPHA19696180147265
HP:0000570HP:0010543Opsoclonus2ITPR1 CL E G H3708208513ORPHA19696180147265
HP:0000570HP:0032015Dysmetric horizontal saccades2ITPR1 CL E G H3708208513ORPHA19696180147265
HP:0000570HP:0025402Square-wave jerks2ITPR1 CL E G H3708208513ORPHA19696180147265
HP:0000570HP:0032105Macrosaccadic oscillations2ITPR1 CL E G H3708208513ORPHA18956180147265
HP:0000570HP:0032013Hypermetric horizontal saccades2ITPR1 CL E G H3708208513ORPHA18956180147265
HP:0000570HP:0007885Slowed horizontal saccades2ITPR1 CL E G H3708208513ORPHA18956180147265
HP:0000570HP:0007975Hypometric horizontal saccades2ITPR1 CL E G H3708208513ORPHA18956180147265
HP:0000570HP:0010543Opsoclonus2ITPR1 CL E G H3708208513ORPHA18956180147265
HP:0000570HP:0032015Dysmetric horizontal saccades2ITPR1 CL E G H3708208513ORPHA18956180147265
HP:0000570HP:0025402Square-wave jerks2ITPR1 CL E G H3708208513ORPHA18956180147265
HP:0000570HP:0032105Macrosaccadic oscillations2KIF1A CL E G H547101010ORPHA11735888601255
HP:0000570HP:0032013Hypermetric horizontal saccades2KIF1A CL E G H547101010ORPHA11735888601255
HP:0000570HP:0007885Slowed horizontal saccades2KIF1A CL E G H547101010ORPHA11735888601255
HP:0000570HP:0007975Hypometric horizontal saccades2KIF1A CL E G H547101010ORPHA11735888601255
HP:0000570HP:0010543Opsoclonus2KIF1A CL E G H547101010ORPHA11735888601255
HP:0000570HP:0032015Dysmetric horizontal saccades2KIF1A CL E G H547101010ORPHA11735888601255
HP:0000570HP:0025402Square-wave jerks2KIF1A CL E G H547101010ORPHA11735888601255
HP:0000570HP:0032105Macrosaccadic oscillations2KIF1A CL E G H547101010ORPHA11441888601255
HP:0000570HP:0032013Hypermetric horizontal saccades2KIF1A CL E G H547101010ORPHA11441888601255
HP:0000570HP:0007885Slowed horizontal saccades2KIF1A CL E G H547101010ORPHA11441888601255
HP:0000570HP:0007975Hypometric horizontal saccades2KIF1A CL E G H547101010ORPHA11441888601255
HP:0000570HP:0010543Opsoclonus2KIF1A CL E G H547101010ORPHA11441888601255
HP:0000570HP:0032015Dysmetric horizontal saccades2KIF1A CL E G H547101010ORPHA11441888601255
HP:0000570HP:0025402Square-wave jerks2KIF1A CL E G H547101010ORPHA11441888601255
HP:0000570HP:0031832Hypermetric downward saccades2KIF1A CL E G H547101010ORPHA11735888601255
HP:0000570HP:0031931Ocular flutter2KIF1A CL E G H547101010ORPHA11735888601255
HP:0000570HP:0031833Hypometric upward saccades2KIF1A CL E G H547101010ORPHA11735888601255
HP:0000570HP:0032116Macrosquare-wave jerks2KIF1A CL E G H547101010ORPHA11735888601255
HP:0000570HP:0032014Dysmetric vertical saccades2KIF1A CL E G H547101010ORPHA11735888601255
HP:0000570HP:0031832Hypermetric downward saccades2KIF1A CL E G H547101010ORPHA11441888601255
HP:0000570HP:0031931Ocular flutter2KIF1A CL E G H547101010ORPHA11441888601255
HP:0000570HP:0031833Hypometric upward saccades2KIF1A CL E G H547101010ORPHA11441888601255
HP:0000570HP:0032116Macrosquare-wave jerks2KIF1A CL E G H547101010ORPHA11441888601255
HP:0000570HP:0032014Dysmetric vertical saccades2KIF1A CL E G H547101010ORPHA11441888601255
HP:0000570HP:0031931Ocular flutter2SCP2 CL E G H6342613724Leukoencephalopathy with dystonia and motor neuropathy613724C3150990OMIM112710606184755
HP:0000570HP:0031833Hypometric upward saccades2SCP2 CL E G H6342613724Leukoencephalopathy with dystonia and motor neuropathy613724C3150990OMIM112710606184755
HP:0000570HP:0032116Macrosquare-wave jerks2SCP2 CL E G H6342613724Leukoencephalopathy with dystonia and motor neuropathy613724C3150990OMIM112710606184755
HP:0000570HP:0032014Dysmetric vertical saccades2SCP2 CL E G H6342613724Leukoencephalopathy with dystonia and motor neuropathy613724C3150990OMIM112710606184755
HP:0000570HP:0031832Hypermetric downward saccades2SCP2 CL E G H6342613724Leukoencephalopathy with dystonia and motor neuropathy613724C3150990OMIM112710606184755
HP:0000570HP:0032105Macrosaccadic oscillations2SCP2 CL E G H6342613724Leukoencephalopathy with dystonia and motor neuropathy613724C3150990OMIM121210606184755
HP:0000570HP:0032013Hypermetric horizontal saccades2SCP2 CL E G H6342613724Leukoencephalopathy with dystonia and motor neuropathy613724C3150990OMIM121210606184755
HP:0000570HP:0007885Slowed horizontal saccades2SCP2 CL E G H6342613724Leukoencephalopathy with dystonia and motor neuropathy613724C3150990OMIM121210606184755
HP:0000570HP:0007975Hypometric horizontal saccades2SCP2 CL E G H6342613724Leukoencephalopathy with dystonia and motor neuropathy613724C3150990OMIM121210606184755
HP:0000570HP:0010543Opsoclonus2SCP2 CL E G H6342613724Leukoencephalopathy with dystonia and motor neuropathy613724C3150990OMIM121210606184755
HP:0000570HP:0032015Dysmetric horizontal saccades2SCP2 CL E G H6342613724Leukoencephalopathy with dystonia and motor neuropathy613724C3150990OMIM121210606184755
HP:0000570HP:0025402Square-wave jerks2SCP2 CL E G H6342613724Leukoencephalopathy with dystonia and motor neuropathy613724C3150990OMIM121210606184755
HP:0000570HP:0032013Hypermetric horizontal saccades2SCP2 CL E G H6342613724Leukoencephalopathy with dystonia and motor neuropathy613724C3150990OMIM112710606184755
HP:0000570HP:0007885Slowed horizontal saccades2SCP2 CL E G H6342613724Leukoencephalopathy with dystonia and motor neuropathy613724C3150990OMIM112710606184755
HP:0000570HP:0007975Hypometric horizontal saccades2SCP2 CL E G H6342613724Leukoencephalopathy with dystonia and motor neuropathy613724C3150990OMIM112710606184755
HP:0000570HP:0010543Opsoclonus2SCP2 CL E G H6342613724Leukoencephalopathy with dystonia and motor neuropathy613724C3150990OMIM112710606184755
HP:0000570HP:0032015Dysmetric horizontal saccades2SCP2 CL E G H6342613724Leukoencephalopathy with dystonia and motor neuropathy613724C3150990OMIM112710606184755
HP:0000570HP:0025402Square-wave jerks2SCP2 CL E G H6342613724Leukoencephalopathy with dystonia and motor neuropathy613724C3150990OMIM112710606184755
HP:0000570HP:0032105Macrosaccadic oscillations2SCP2 CL E G H6342613724Leukoencephalopathy with dystonia and motor neuropathy613724C3150990OMIM112710606184755
HP:0000570HP:0031832Hypermetric downward saccades2SCP2 CL E G H6342613724Leukoencephalopathy with dystonia and motor neuropathy613724C3150990OMIM121210606184755
HP:0000570HP:0031931Ocular flutter2SCP2 CL E G H6342613724Leukoencephalopathy with dystonia and motor neuropathy613724C3150990OMIM121210606184755
HP:0000570HP:0031833Hypometric upward saccades2SCP2 CL E G H6342613724Leukoencephalopathy with dystonia and motor neuropathy613724C3150990OMIM121210606184755
HP:0000570HP:0032116Macrosquare-wave jerks2SCP2 CL E G H6342613724Leukoencephalopathy with dystonia and motor neuropathy613724C3150990OMIM121210606184755
HP:0000570HP:0032014Dysmetric vertical saccades2SCP2 CL E G H6342613724Leukoencephalopathy with dystonia and motor neuropathy613724C3150990OMIM121210606184755
HP:0000570HP:0032013Hypermetric horizontal saccades2TMEM216 CL E G H51259608091Joubert syndrome 2608091C1842577OMIM115125018613277
HP:0000570HP:0007885Slowed horizontal saccades2TMEM216 CL E G H51259608091Joubert syndrome 2608091C1842577OMIM115125018613277
HP:0000570HP:0007975Hypometric horizontal saccades2TMEM216 CL E G H51259608091Joubert syndrome 2608091C1842577OMIM115125018613277
HP:0000570HP:0010543Opsoclonus2TMEM216 CL E G H51259608091Joubert syndrome 2608091C1842577OMIM115125018613277
HP:0000570HP:0032015Dysmetric horizontal saccades2TMEM216 CL E G H51259608091Joubert syndrome 2608091C1842577OMIM115125018613277
HP:0000570HP:0025402Square-wave jerks2TMEM216 CL E G H51259608091Joubert syndrome 2608091C1842577OMIM115125018613277
HP:0000570HP:0032105Macrosaccadic oscillations2TMEM216 CL E G H51259608091Joubert syndrome 2608091C1842577OMIM115125018613277
HP:0000570HP:0031931Ocular flutter2TMEM216 CL E G H51259608091Joubert syndrome 2608091C1842577OMIM116825018613277
HP:0000570HP:0031833Hypometric upward saccades2TMEM216 CL E G H51259608091Joubert syndrome 2608091C1842577OMIM116825018613277
HP:0000570HP:0032116Macrosquare-wave jerks2TMEM216 CL E G H51259608091Joubert syndrome 2608091C1842577OMIM116825018613277
HP:0000570HP:0032014Dysmetric vertical saccades2TMEM216 CL E G H51259608091Joubert syndrome 2608091C1842577OMIM116825018613277
HP:0000570HP:0031832Hypermetric downward saccades2TMEM216 CL E G H51259608091Joubert syndrome 2608091C1842577OMIM116825018613277
HP:0000570HP:0031931Ocular flutter2TMEM216 CL E G H51259608091Joubert syndrome 2608091C1842577OMIM115125018613277
HP:0000570HP:0031833Hypometric upward saccades2TMEM216 CL E G H51259608091Joubert syndrome 2608091C1842577OMIM115125018613277
HP:0000570HP:0032116Macrosquare-wave jerks2TMEM216 CL E G H51259608091Joubert syndrome 2608091C1842577OMIM115125018613277
HP:0000570HP:0032014Dysmetric vertical saccades2TMEM216 CL E G H51259608091Joubert syndrome 2608091C1842577OMIM115125018613277
HP:0000570HP:0031832Hypermetric downward saccades2TMEM216 CL E G H51259608091Joubert syndrome 2608091C1842577OMIM115125018613277
HP:0000570HP:0032013Hypermetric horizontal saccades2TMEM216 CL E G H51259608091Joubert syndrome 2608091C1842577OMIM116825018613277
HP:0000570HP:0007885Slowed horizontal saccades2TMEM216 CL E G H51259608091Joubert syndrome 2608091C1842577OMIM116825018613277
HP:0000570HP:0007975Hypometric horizontal saccades2TMEM216 CL E G H51259608091Joubert syndrome 2608091C1842577OMIM116825018613277
HP:0000570HP:0010543Opsoclonus2TMEM216 CL E G H51259608091Joubert syndrome 2608091C1842577OMIM116825018613277
HP:0000570HP:0032015Dysmetric horizontal saccades2TMEM216 CL E G H51259608091Joubert syndrome 2608091C1842577OMIM116825018613277
HP:0000570HP:0025402Square-wave jerks2TMEM216 CL E G H51259608091Joubert syndrome 2608091C1842577OMIM116825018613277
HP:0000570HP:0032105Macrosaccadic oscillations2TMEM216 CL E G H51259608091Joubert syndrome 2608091C1842577OMIM116825018613277
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000570HP:0000570Abnormal saccadic eye movements0C19orf12 CL E G H83636289560ORPHA024825443614297
HP:0000570HP:0000570Abnormal saccadic eye movements0C19orf12 CL E G H83636289560ORPHA024025443614297
HP:0000570HP:0000570Abnormal saccadic eye movements0TUBB3 CL E G H10381300570ORPHA021720772602661
HP:0000570HP:0000570Abnormal saccadic eye movements0TUBB3 CL E G H10381300570ORPHA020520772602661
HP:0000570HP:0007338Hypermetric saccades1C19orf12 CL E G H83636289560ORPHA024825443614297
HP:0000570HP:0032114Saccadic intrusion1C19orf12 CL E G H83636289560ORPHA024825443614297
HP:0000570HP:0007338Hypermetric saccades1C19orf12 CL E G H83636289560ORPHA024025443614297
HP:0000570HP:0032114Saccadic intrusion1C19orf12 CL E G H83636289560ORPHA024025443614297
HP:0000570HP:0032104Saccadic oscillation1C19orf12 CL E G H83636289560ORPHA024825443614297
HP:0000570HP:0000514Slow saccadic eye movements1C19orf12 CL E G H83636289560ORPHA024825443614297
HP:0000570HP:0000571Hypometric saccades1C19orf12 CL E G H83636289560ORPHA024825443614297
HP:0000570HP:0000641Dysmetric saccades1C19orf12 CL E G H83636289560ORPHA024825443614297
HP:0000570HP:0000514Slow saccadic eye movements1C19orf12 CL E G H83636289560ORPHA024025443614297
HP:0000570HP:0000571Hypometric saccades1C19orf12 CL E G H83636289560ORPHA024025443614297
HP:0000570HP:0000641Dysmetric saccades1C19orf12 CL E G H83636289560ORPHA024025443614297
HP:0000570HP:0032104Saccadic oscillation1C19orf12 CL E G H83636289560ORPHA024025443614297
HP:0000570HP:0032104Saccadic oscillation1TUBB3 CL E G H10381300570ORPHA021720772602661
HP:0000570HP:0000514Slow saccadic eye movements1TUBB3 CL E G H10381300570ORPHA021720772602661
HP:0000570HP:0000571Hypometric saccades1TUBB3 CL E G H10381300570ORPHA021720772602661
HP:0000570HP:0000641Dysmetric saccades1TUBB3 CL E G H10381300570ORPHA021720772602661
HP:0000570HP:0032104Saccadic oscillation1TUBB3 CL E G H10381300570ORPHA020520772602661
HP:0000570HP:0000514Slow saccadic eye movements1TUBB3 CL E G H10381300570ORPHA020520772602661
HP:0000570HP:0000571Hypometric saccades1TUBB3 CL E G H10381300570ORPHA020520772602661
HP:0000570HP:0000641Dysmetric saccades1TUBB3 CL E G H10381300570ORPHA020520772602661
HP:0000570HP:0007338Hypermetric saccades1TUBB3 CL E G H10381300570ORPHA021720772602661
HP:0000570HP:0032114Saccadic intrusion1TUBB3 CL E G H10381300570ORPHA021720772602661
HP:0000570HP:0007338Hypermetric saccades1TUBB3 CL E G H10381300570ORPHA020520772602661
HP:0000570HP:0032114Saccadic intrusion1TUBB3 CL E G H10381300570ORPHA020520772602661
HP:0000570HP:0032105Macrosaccadic oscillations2C19orf12 CL E G H83636289560ORPHA024825443614297
HP:0000570HP:0032013Hypermetric horizontal saccades2C19orf12 CL E G H83636289560ORPHA024825443614297
HP:0000570HP:0007885Slowed horizontal saccades2C19orf12 CL E G H83636289560ORPHA024825443614297
HP:0000570HP:0007975Hypometric horizontal saccades2C19orf12 CL E G H83636289560ORPHA024825443614297
HP:0000570HP:0010543Opsoclonus2C19orf12 CL E G H83636289560ORPHA024825443614297
HP:0000570HP:0032015Dysmetric horizontal saccades2C19orf12 CL E G H83636289560ORPHA024825443614297
HP:0000570HP:0025402Square-wave jerks2C19orf12 CL E G H83636289560ORPHA024825443614297
HP:0000570HP:0032105Macrosaccadic oscillations2C19orf12 CL E G H83636289560ORPHA024025443614297
HP:0000570HP:0032013Hypermetric horizontal saccades2C19orf12 CL E G H83636289560ORPHA024025443614297
HP:0000570HP:0007885Slowed horizontal saccades2C19orf12 CL E G H83636289560ORPHA024025443614297
HP:0000570HP:0007975Hypometric horizontal saccades2C19orf12 CL E G H83636289560ORPHA024025443614297
HP:0000570HP:0010543Opsoclonus2C19orf12 CL E G H83636289560ORPHA024025443614297
HP:0000570HP:0032015Dysmetric horizontal saccades2C19orf12 CL E G H83636289560ORPHA024025443614297
HP:0000570HP:0025402Square-wave jerks2C19orf12 CL E G H83636289560ORPHA024025443614297
HP:0000570HP:0031832Hypermetric downward saccades2C19orf12 CL E G H83636289560ORPHA024825443614297
HP:0000570HP:0031931Ocular flutter2C19orf12 CL E G H83636289560ORPHA024825443614297
HP:0000570HP:0031833Hypometric upward saccades2C19orf12 CL E G H83636289560ORPHA024825443614297
HP:0000570HP:0032116Macrosquare-wave jerks2C19orf12 CL E G H83636289560ORPHA024825443614297
HP:0000570HP:0032014Dysmetric vertical saccades2C19orf12 CL E G H83636289560ORPHA024825443614297
HP:0000570HP:0031832Hypermetric downward saccades2C19orf12 CL E G H83636289560ORPHA024025443614297
HP:0000570HP:0031931Ocular flutter2C19orf12 CL E G H83636289560ORPHA024025443614297
HP:0000570HP:0031833Hypometric upward saccades2C19orf12 CL E G H83636289560ORPHA024025443614297
HP:0000570HP:0032116Macrosquare-wave jerks2C19orf12 CL E G H83636289560ORPHA024025443614297
HP:0000570HP:0032014Dysmetric vertical saccades2C19orf12 CL E G H83636289560ORPHA024025443614297
HP:0000570HP:0032014Dysmetric vertical saccades2TUBB3 CL E G H10381300570ORPHA021720772602661
HP:0000570HP:0031832Hypermetric downward saccades2TUBB3 CL E G H10381300570ORPHA021720772602661
HP:0000570HP:0031931Ocular flutter2TUBB3 CL E G H10381300570ORPHA021720772602661
HP:0000570HP:0031833Hypometric upward saccades2TUBB3 CL E G H10381300570ORPHA021720772602661
HP:0000570HP:0032116Macrosquare-wave jerks2TUBB3 CL E G H10381300570ORPHA021720772602661
HP:0000570HP:0031832Hypermetric downward saccades2TUBB3 CL E G H10381300570ORPHA020520772602661
HP:0000570HP:0031931Ocular flutter2TUBB3 CL E G H10381300570ORPHA020520772602661
HP:0000570HP:0031833Hypometric upward saccades2TUBB3 CL E G H10381300570ORPHA020520772602661
HP:0000570HP:0032116Macrosquare-wave jerks2TUBB3 CL E G H10381300570ORPHA020520772602661
HP:0000570HP:0032014Dysmetric vertical saccades2TUBB3 CL E G H10381300570ORPHA020520772602661
HP:0000570HP:0032105Macrosaccadic oscillations2TUBB3 CL E G H10381300570ORPHA021720772602661
HP:0000570HP:0032013Hypermetric horizontal saccades2TUBB3 CL E G H10381300570ORPHA021720772602661
HP:0000570HP:0007885Slowed horizontal saccades2TUBB3 CL E G H10381300570ORPHA021720772602661
HP:0000570HP:0007975Hypometric horizontal saccades2TUBB3 CL E G H10381300570ORPHA021720772602661
HP:0000570HP:0010543Opsoclonus2TUBB3 CL E G H10381300570ORPHA021720772602661
HP:0000570HP:0032015Dysmetric horizontal saccades2TUBB3 CL E G H10381300570ORPHA021720772602661
HP:0000570HP:0025402Square-wave jerks2TUBB3 CL E G H10381300570ORPHA021720772602661
HP:0000570HP:0032105Macrosaccadic oscillations2TUBB3 CL E G H10381300570ORPHA020520772602661
HP:0000570HP:0032013Hypermetric horizontal saccades2TUBB3 CL E G H10381300570ORPHA020520772602661
HP:0000570HP:0007885Slowed horizontal saccades2TUBB3 CL E G H10381300570ORPHA020520772602661
HP:0000570HP:0007975Hypometric horizontal saccades2TUBB3 CL E G H10381300570ORPHA020520772602661
HP:0000570HP:0010543Opsoclonus2TUBB3 CL E G H10381300570ORPHA020520772602661
HP:0000570HP:0032015Dysmetric horizontal saccades2TUBB3 CL E G H10381300570ORPHA020520772602661
HP:0000570HP:0025402Square-wave jerks2TUBB3 CL E G H10381300570ORPHA020520772602661


Genes (61) :AFG3L2 AGTPBP1 ALS2 ANO10 APTX ATP13A2 ATP2B3 ATXN1 ATXN2 ATXN3 ATXN7 ATXN8 ATXN8OS C19ORF12 CACNA1G CLCN7 DNAJC6 EEF2 ELOVL5 FBXO7 FGF14 FXN GBA GBA2 GJC2 GRM1 INPP5E ITPR1 KIF1A MFN2 MME MRE11 NKX6-2 NME1 NOP56 NPHP1 PDYN PEX10 PEX2 PIK3R5 PLA2G6 PLD3 PRNP SCP2 SCYL1 SLC1A3 SLC35A2 SLC6A3 SNCA SNX10 SPTBN2 TCIRG1 TGM6 TMEM216 TMEM240 TNFSF11 TPP1 TUBB3 VAMP1 VPS13D XRCC1

Diseases (76) :289560 95 352641 213300 208513 101010 613724 608091 300570 101109 610246 618276 607225 284289 613728 208920 306674 606693 302500 98755 164400 98756 183090 109150 164500 608768 458803 615528 101112 609306 423296 615957 171695 260300 609307 613206 324262 617691 614831 606658 601152 497764 617018 251347 604391 527497 617560 276198 614153 609583 101108 610245 614871 614867 615217 199351 617770 157941 466794 612656 352403 615386 276193 607454 284324 609270 251282 108600 607317 617633 667 2072 231005 256700 300896 613135
 

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