Human Phenotype Ontology 
Grandparent Node:
expand
Abnormality of the eye (HP:0000478)help
Parent Node:
expand
Abnormal eye physiology (HP:0012373)help
..Starting node
..expand
Abnormality of eye movement (HP:0000496)help
Term ID: 496
Name: Abnormality of eye movement
Synonym: Abnormal extraocular movement; Abnormal extraocular movements; Abnormal eye motility; Abnormal eye movement; Abnormal eye movements; Abnormal motility of the globe of the eye; Abnormal movement of the globe of the eye; Abnormal ocular movements; Abnormality of eye movement; Eye movement abnormalities; Eye movement issue; Ocular movement abnormalities; Oculomotor abnormalities
Definition: An abnormality in voluntary or involuntary eye movements or their control.
Comments:
Reference: HP:0000496
Genes and Diseases:
 
       Child Nodes:
........expandImpaired ocular adduction (HP:0000542) help
........expandAbnormal conjugate eye movement (HP:0000549) help
................... HP:0000486 Strabismus
................... HP:0000605 Supranuclear gaze palsy
................... HP:0000619 Impaired convergence
........expandAbnormality of saccadic eye movements (HP:0000570) help
................... HP:0000514 Slow saccadic eye movements
................... HP:0000571 Hypometric saccades
................... HP:0000641 Dysmetric saccades
................... HP:0007338 Hypermetric saccades
................... HP:0025402 Square-wave jerks
........expandOphthalmoparesis (HP:0000597) help
................... HP:0000602 Ophthalmoplegia
................... HP:0007715 Weak extraocular muscles
................... HP:0008507 Static ophthalmoparesis
................... HP:0012246 Oculomotor nerve palsy
................... HP:0012470 Setting-sun eye phenomenon
........expandAbnormality of ocular smooth pursuit (HP:0000617) help
................... HP:0001152 Saccadic smooth pursuit
................... HP:0007668 Impaired pursuit initiation and maintenance
................... HP:0007772 Impaired smooth pursuit
................... HP:0008003 Jerky ocular pursuit movements
........expandOculomotor apraxia (HP:0000657) help
........expandLimited extraocular movements (HP:0007941) help
........expandAbnormality of ocular abduction (HP:0011347) help
................... HP:0000497 Globe retraction and deviation on abduction
................... HP:0000634 Impaired ocular abduction
........expandAbnormal involuntary eye movements (HP:0012547) help
................... HP:0000639 Nystagmus
................... HP:0007295 Chaotic rapid conjugate ocular movements
................... HP:0007704 Paroxysmal involuntary eye movements
................... HP:0007738 Uncontrolled eye movements
................... HP:0010543 Opsoclonus
........expandMarcus Gunn jaw winking synkinesis (HP:0025186) help
........expandAbnormal visual fixation (HP:0025404) help
................... HP:0025405 Visual fixation instability
................... HP:0025549 Eccentric visual fixation
........expandVisual gaze preference (HP:0025518) help
........expandCompensatory head posture (HP:0031705) help
................... HP:0001477 Compensatory chin elevation
................... HP:0031706 Compensatory chin depression
................... HP:0031707 Compensatory face turn to the right
................... HP:0031708 Compensatory face turn to the left
................... HP:0031709 Compensatory head tilt to the right shoulder
................... HP:0031710 Compensatory head tilt to the left shoulder
........expandAbnormal ocular alignment (HP:0500073) help
................... HP:0500074 Dissociated vertical deviation
................... HP:0500075 Dissociated horizontal deviation

 Sister Nodes: 
..expandAbnormal extraocular muscle physiology (HP:0025590) help
..expandAbnormal eyelid physiology (HP:0031879) help
..expandAbnormal intraocular pressure (HP:0012632) help
..expandAbnormal pupillary function (HP:0007686) help
..expandAbnormal visual accommodation (HP:0030800) help
..expandAbnormal visual electrophysiology (HP:0030453) help
..expandAbnormality of refraction (HP:0000539) help
..expandAbnormality of vision (HP:0000504) help
..expandAsthenopia (HP:0031590) help
..expandCongenital stationary cone dysfunction (HP:0030637) help
..expandGlaucoma (HP:0000501) help
..expandHemorrhage of the eye (HP:0011885) help
..expandInflammatory abnormality of the eye (HP:0100533) help
..expandLacrimation abnormality (HP:0000632) help
..expandOcular pain (HP:0200026) help
..expandPtosis (HP:0000508) help
..expandStaring gaze (HP:0025401) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0000496HP:0000496Abnormality of eye movement0ALDH5A1 CL E G H7915271980Succinate-semialdehyde dehydrogenase deficiency271980C0268631OMIM1472408610045
HP:0000496HP:0000496Abnormality of eye movement0ALDH5A1 CL E G H7915271980Succinate-semialdehyde dehydrogenase deficiency271980C0268631OMIM1537408610045
HP:0000496HP:0000496Abnormality of eye movement0ALS2 CL E G H57679293168ORPHA1524443606352
HP:0000496HP:0000496Abnormality of eye movement0ALS2 CL E G H57679293168ORPHA1644443606352
HP:0000496HP:0000496Abnormality of eye movement0ARMC9 CL E G H80210617622JOUBERT SYNDROME 30617622C4539937OMIM125120730617612
HP:0000496HP:0000496Abnormality of eye movement0ARMC9 CL E G H80210617622JOUBERT SYNDROME 30617622C4539937OMIM138020730617612
HP:0000496HP:0000496Abnormality of eye movement0CACNB4 CL E G H785307ORPHA13001404601949
HP:0000496HP:0000496Abnormality of eye movement0CACNB4 CL E G H785307ORPHA13051404601949
HP:0000496HP:0000496Abnormality of eye movement0CLCN2 CL E G H1181307ORPHA11632020600570
HP:0000496HP:0000496Abnormality of eye movement0CLCN2 CL E G H1181307ORPHA11942020600570
HP:0000496HP:0000496Abnormality of eye movement0EFHC1 CL E G H114327307ORPHA142416406608815
HP:0000496HP:0000496Abnormality of eye movement0EFHC1 CL E G H114327307ORPHA143216406608815
HP:0000496HP:0000496Abnormality of eye movement0EFHC1 CL E G H1143271941ORPHA142416406608815
HP:0000496HP:0000496Abnormality of eye movement0EFHC1 CL E G H1143271941ORPHA143216406608815
HP:0000496HP:0000496Abnormality of eye movement0GABRA1 CL E G H2554307ORPHA14184075137160
HP:0000496HP:0000496Abnormality of eye movement0GABRA1 CL E G H2554307ORPHA14584075137160
HP:0000496HP:0000496Abnormality of eye movement0GABRD CL E G H2563307ORPHA13404084137163
HP:0000496HP:0000496Abnormality of eye movement0GABRD CL E G H2563307ORPHA13614084137163
HP:0000496HP:0000496Abnormality of eye movement0GCH1 CL E G H2643233910GTP cyclohydrolase I deficiency233910C0268467OMIM12574193600225
HP:0000496HP:0000496Abnormality of eye movement0GCH1 CL E G H2643233910GTP cyclohydrolase I deficiency233910C0268467OMIM13154193600225
HP:0000496HP:0000496Abnormality of eye movement0HOXA1 CL E G H3198601536Athabaskan brainstem dysgenesis601536C1832215OMIM11125099142955
HP:0000496HP:0000496Abnormality of eye movement0HOXA1 CL E G H3198601536Athabaskan brainstem dysgenesis601536C1832215OMIM11135099142955
HP:0000496HP:0000496Abnormality of eye movement0HTT CL E G H3064143100Huntington's chorea143100C0020179OMIM11454851613004
HP:0000496HP:0000496Abnormality of eye movement0HTT CL E G H3064143100Huntington's chorea143100C0020179OMIM13934851613004
HP:0000496HP:0000496Abnormality of eye movement0ICK CL E G H22858307ORPHA121219612325
HP:0000496HP:0000496Abnormality of eye movement0JRK CL E G H8629307ORPHA1646199603210
HP:0000496HP:0000496Abnormality of eye movement0KCNJ6 CL E G H3763435628ORPHA11016267600877
HP:0000496HP:0000496Abnormality of eye movement0KCNJ6 CL E G H3763435628ORPHA11156267600877
HP:0000496HP:0000496Abnormality of eye movement0KCNQ3 CL E G H3786307ORPHA18866297602232
HP:0000496HP:0000496Abnormality of eye movement0KCNQ3 CL E G H3786307ORPHA19776297602232
HP:0000496HP:0000496Abnormality of eye movement0KIAA0586 CL E G H9786616490Joubert syndrome 23616490C4084822OMIM133819960610178
HP:0000496HP:0000496Abnormality of eye movement0KIAA0586 CL E G H9786616490Joubert syndrome 23616490C4084822OMIM166219960610178
HP:0000496HP:0000496Abnormality of eye movement0KIF1A CL E G H5472836ORPHA11441888601255
HP:0000496HP:0000496Abnormality of eye movement0KIF1A CL E G H5472836ORPHA11735888601255
HP:0000496HP:0000496Abnormality of eye movement0MASP1 CL E G H5648257920Michels syndrome257920C0796059OMIM12146901600521
HP:0000496HP:0000496Abnormality of eye movement0MASP1 CL E G H5648257920Michels syndrome257920C0796059OMIM12206901600521
HP:0000496HP:0000496Abnormality of eye movement0NDUFA13 CL E G H51079618249MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 28618249OMIM11817194609435
HP:0000496HP:0000496Abnormality of eye movement0NDUFA13 CL E G H51079618249MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 28618249OMIM11917194609435
HP:0000496HP:0000496Abnormality of eye movement0PDHA1 CL E G H5160312170Pyruvate dehydrogenase E1-alpha deficiency312170C1839413OMIM15308806300502
HP:0000496HP:0000496Abnormality of eye movement0PDHA1 CL E G H5160312170Pyruvate dehydrogenase E1-alpha deficiency312170C1839413OMIM15388806300502
HP:0000496HP:0000496Abnormality of eye movement0PDHX CL E G H8050245349Pyruvate dehydrogenase E3-binding protein deficiency245349C1855553OMIM122921350608769
HP:0000496HP:0000496Abnormality of eye movement0PDHX CL E G H8050245349Pyruvate dehydrogenase E3-binding protein deficiency245349C1855553OMIM126421350608769
HP:0000496HP:0000496Abnormality of eye movement0PNPO CL E G H5516379096ORPHA123130260603287
HP:0000496HP:0000496Abnormality of eye movement0PNPO CL E G H5516379096ORPHA126230260603287
HP:0000496HP:0000496Abnormality of eye movement0PPP2R2B CL E G H5521604326Spinocerebellar ataxia 12604326C1858501OMIM1369305604325
HP:0000496HP:0000496Abnormality of eye movement0PPP2R2B CL E G H5521604326Spinocerebellar ataxia 12604326C1858501OMIM1389305604325
HP:0000496HP:0000496Abnormality of eye movement0PSAP CL E G H5660139406ORPHA13909498176801
HP:0000496HP:0000496Abnormality of eye movement0PSAP CL E G H5660139406ORPHA15029498176801
HP:0000496HP:0000496Abnormality of eye movement0RS1 CL E G H6247792ORPHA155110457300839
HP:0000496HP:0000496Abnormality of eye movement0RS1 CL E G H6247792ORPHA162210457300839
HP:0000496HP:0000496Abnormality of eye movement0SLC18A2 CL E G H6571352649ORPHA18010935193001
HP:0000496HP:0000496Abnormality of eye movement0SLC18A2 CL E G H6571352649ORPHA110310935193001
HP:0000496HP:0000496Abnormality of eye movement0SLC52A2 CL E G H7958197229ORPHA132830224607882
HP:0000496HP:0000496Abnormality of eye movement0SLC52A2 CL E G H7958197229ORPHA139130224607882
HP:0000496HP:0000496Abnormality of eye movement0SLC52A3 CL E G H11327897229ORPHA131416187613350
HP:0000496HP:0000496Abnormality of eye movement0SLC52A3 CL E G H11327897229ORPHA136316187613350
HP:0000496HP:0000496Abnormality of eye movement0SNAP29 CL E G H934266631ORPHA157011133604202
HP:0000496HP:0000496Abnormality of eye movement0SNAP29 CL E G H934266631ORPHA158811133604202
HP:0000496HP:0000496Abnormality of eye movement0TCTN3 CL E G H261232753Hunter Macpherson syndromeORPHA114824519613847
HP:0000496HP:0000496Abnormality of eye movement0TCTN3 CL E G H261232753Hunter Macpherson syndromeORPHA125624519613847
HP:0000496HP:0000496Abnormality of eye movement0TCTN3 CL E G H26123614815Joubert syndrome 18614815C3553758OMIM114824519613847
HP:0000496HP:0000496Abnormality of eye movement0TCTN3 CL E G H26123614815Joubert syndrome 18614815C3553758OMIM125624519613847
HP:0000496HP:0000496Abnormality of eye movement0WDR45 CL E G H11152329284ORPHA143128912300526
HP:0000496HP:0000496Abnormality of eye movement0WDR45 CL E G H11152329284ORPHA146428912300526
HP:0000496HP:0000496Abnormality of eye movement0WDR45 CL E G H11152300894Neurodegeneration with brain iron accumulation 5300894C3550973OMIM143128912300526
HP:0000496HP:0000496Abnormality of eye movement0WDR45 CL E G H11152300894Neurodegeneration with brain iron accumulation 5300894C3550973OMIM146428912300526
HP:0000496HP:0000496Abnormality of eye movement0ZNHIT3 CL E G H93262836ORPHA110812309604500
HP:0000496HP:0000496Abnormality of eye movement0ZNHIT3 CL E G H93262836ORPHA110912309604500
HP:0000496HP:0000549Abnormal conjugate eye movement1ALDH5A1 CL E G H7915271980Succinate-semialdehyde dehydrogenase deficiency271980C0268631OMIM1472408610045
HP:0000496HP:0000549Abnormal conjugate eye movement1ALDH5A1 CL E G H7915271980Succinate-semialdehyde dehydrogenase deficiency271980C0268631OMIM1537408610045
HP:0000496HP:0012547Abnormal involuntary eye movements1ALDH5A1 CL E G H7915271980Succinate-semialdehyde dehydrogenase deficiency271980C0268631OMIM1472408610045
HP:0000496HP:0012547Abnormal involuntary eye movements1ALDH5A1 CL E G H7915271980Succinate-semialdehyde dehydrogenase deficiency271980C0268631OMIM1537408610045
HP:0000496HP:0500073Abnormal ocular alignment1ALDH5A1 CL E G H7915271980Succinate-semialdehyde dehydrogenase deficiency271980C0268631OMIM1472408610045
HP:0000496HP:0500073Abnormal ocular alignment1ALDH5A1 CL E G H7915271980Succinate-semialdehyde dehydrogenase deficiency271980C0268631OMIM1537408610045
HP:0000496HP:0000570Abnormal saccadic eye movements1ALDH5A1 CL E G H7915271980Succinate-semialdehyde dehydrogenase deficiency271980C0268631OMIM1472408610045
HP:0000496HP:0000570Abnormal saccadic eye movements1ALDH5A1 CL E G H7915271980Succinate-semialdehyde dehydrogenase deficiency271980C0268631OMIM1537408610045
HP:0000496HP:0025404Abnormal visual fixation1ALDH5A1 CL E G H7915271980Succinate-semialdehyde dehydrogenase deficiency271980C0268631OMIM1472408610045
HP:0000496HP:0025404Abnormal visual fixation1ALDH5A1 CL E G H7915271980Succinate-semialdehyde dehydrogenase deficiency271980C0268631OMIM1537408610045
HP:0000496HP:0011347Abnormality of ocular abduction1ALDH5A1 CL E G H7915271980Succinate-semialdehyde dehydrogenase deficiency271980C0268631OMIM1472408610045
HP:0000496HP:0011347Abnormality of ocular abduction1ALDH5A1 CL E G H7915271980Succinate-semialdehyde dehydrogenase deficiency271980C0268631OMIM1537408610045
HP:0000496HP:0000617Abnormality of ocular smooth pursuit1ALDH5A1 CL E G H7915271980Succinate-semialdehyde dehydrogenase deficiency271980C0268631OMIM1472408610045
HP:0000496HP:0000617Abnormality of ocular smooth pursuit1ALDH5A1 CL E G H7915271980Succinate-semialdehyde dehydrogenase deficiency271980C0268631OMIM1537408610045
HP:0000496HP:0031705Compensatory head posture1ALDH5A1 CL E G H7915271980Succinate-semialdehyde dehydrogenase deficiency271980C0268631OMIM1472408610045
HP:0000496HP:0031705Compensatory head posture1ALDH5A1 CL E G H7915271980Succinate-semialdehyde dehydrogenase deficiency271980C0268631OMIM1537408610045
HP:0000496HP:0000542Impaired ocular adduction1ALDH5A1 CL E G H7915271980Succinate-semialdehyde dehydrogenase deficiency271980C0268631OMIM1472408610045
HP:0000496HP:0000542Impaired ocular adduction1ALDH5A1 CL E G H7915271980Succinate-semialdehyde dehydrogenase deficiency271980C0268631OMIM1537408610045
HP:0000496HP:0007941Limited extraocular movements1ALDH5A1 CL E G H7915271980Succinate-semialdehyde dehydrogenase deficiency271980C0268631OMIM1472408610045
HP:0000496HP:0007941Limited extraocular movements1ALDH5A1 CL E G H7915271980Succinate-semialdehyde dehydrogenase deficiency271980C0268631OMIM1537408610045
HP:0000496HP:0025186Marcus Gunn jaw winking synkinesis1ALDH5A1 CL E G H7915271980Succinate-semialdehyde dehydrogenase deficiency271980C0268631OMIM1472408610045
HP:0000496HP:0025186Marcus Gunn jaw winking synkinesis1ALDH5A1 CL E G H7915271980Succinate-semialdehyde dehydrogenase deficiency271980C0268631OMIM1537408610045
HP:0000496HP:0000657Oculomotor apraxia1ALDH5A1 CL E G H7915271980Succinate-semialdehyde dehydrogenase deficiency271980C0268631OMIM1472408610045
HP:0000496HP:0000657Oculomotor apraxia1ALDH5A1 CL E G H7915271980Succinate-semialdehyde dehydrogenase deficiency271980C0268631OMIM1537408610045
HP:0000496HP:0033851Oculomotor synkinesis1ALDH5A1 CL E G H7915271980Succinate-semialdehyde dehydrogenase deficiency271980C0268631OMIM1472408610045
HP:0000496HP:0033851Oculomotor synkinesis1ALDH5A1 CL E G H7915271980Succinate-semialdehyde dehydrogenase deficiency271980C0268631OMIM1537408610045
HP:0000496HP:0000597Ophthalmoparesis1ALDH5A1 CL E G H7915271980Succinate-semialdehyde dehydrogenase deficiency271980C0268631OMIM1472408610045
HP:0000496HP:0000597Ophthalmoparesis1ALDH5A1 CL E G H7915271980Succinate-semialdehyde dehydrogenase deficiency271980C0268631OMIM1537408610045
HP:0000496HP:0033980Paroxysmal tonic upgaze1ALDH5A1 CL E G H7915271980Succinate-semialdehyde dehydrogenase deficiency271980C0268631OMIM1472408610045
HP:0000496HP:0033980Paroxysmal tonic upgaze1ALDH5A1 CL E G H7915271980Succinate-semialdehyde dehydrogenase deficiency271980C0268631OMIM1537408610045
HP:0000496HP:0025518Visual gaze preference1ALDH5A1 CL E G H7915271980Succinate-semialdehyde dehydrogenase deficiency271980C0268631OMIM1472408610045
HP:0000496HP:0025518Visual gaze preference1ALDH5A1 CL E G H7915271980Succinate-semialdehyde dehydrogenase deficiency271980C0268631OMIM1537408610045
HP:0000496HP:0000549Abnormal conjugate eye movement1ALS2 CL E G H57679293168ORPHA1524443606352
HP:0000496HP:0000549Abnormal conjugate eye movement1ALS2 CL E G H57679293168ORPHA1644443606352
HP:0000496HP:0012547Abnormal involuntary eye movements1ALS2 CL E G H57679293168ORPHA1524443606352
HP:0000496HP:0012547Abnormal involuntary eye movements1ALS2 CL E G H57679293168ORPHA1644443606352
HP:0000496HP:0500073Abnormal ocular alignment1ALS2 CL E G H57679293168ORPHA1524443606352
HP:0000496HP:0500073Abnormal ocular alignment1ALS2 CL E G H57679293168ORPHA1644443606352
HP:0000496HP:0000570Abnormal saccadic eye movements1ALS2 CL E G H57679293168ORPHA1524443606352
HP:0000496HP:0000570Abnormal saccadic eye movements1ALS2 CL E G H57679293168ORPHA1644443606352
HP:0000496HP:0025404Abnormal visual fixation1ALS2 CL E G H57679293168ORPHA1524443606352
HP:0000496HP:0025404Abnormal visual fixation1ALS2 CL E G H57679293168ORPHA1644443606352
HP:0000496HP:0011347Abnormality of ocular abduction1ALS2 CL E G H57679293168ORPHA1524443606352
HP:0000496HP:0011347Abnormality of ocular abduction1ALS2 CL E G H57679293168ORPHA1644443606352
HP:0000496HP:0000617Abnormality of ocular smooth pursuit1ALS2 CL E G H57679293168ORPHA1524443606352
HP:0000496HP:0000617Abnormality of ocular smooth pursuit1ALS2 CL E G H57679293168ORPHA1644443606352
HP:0000496HP:0031705Compensatory head posture1ALS2 CL E G H57679293168ORPHA1524443606352
HP:0000496HP:0031705Compensatory head posture1ALS2 CL E G H57679293168ORPHA1644443606352
HP:0000496HP:0000542Impaired ocular adduction1ALS2 CL E G H57679293168ORPHA1524443606352
HP:0000496HP:0000542Impaired ocular adduction1ALS2 CL E G H57679293168ORPHA1644443606352
HP:0000496HP:0007941Limited extraocular movements1ALS2 CL E G H57679293168ORPHA1524443606352
HP:0000496HP:0007941Limited extraocular movements1ALS2 CL E G H57679293168ORPHA1644443606352
HP:0000496HP:0025186Marcus Gunn jaw winking synkinesis1ALS2 CL E G H57679293168ORPHA1524443606352
HP:0000496HP:0025186Marcus Gunn jaw winking synkinesis1ALS2 CL E G H57679293168ORPHA1644443606352
HP:0000496HP:0000657Oculomotor apraxia1ALS2 CL E G H57679293168ORPHA1524443606352
HP:0000496HP:0000657Oculomotor apraxia1ALS2 CL E G H57679293168ORPHA1644443606352
HP:0000496HP:0033851Oculomotor synkinesis1ALS2 CL E G H57679293168ORPHA1524443606352
HP:0000496HP:0033851Oculomotor synkinesis1ALS2 CL E G H57679293168ORPHA1644443606352
HP:0000496HP:0000597Ophthalmoparesis1ALS2 CL E G H57679293168ORPHA1524443606352
HP:0000496HP:0000597Ophthalmoparesis1ALS2 CL E G H57679293168ORPHA1644443606352
HP:0000496HP:0033980Paroxysmal tonic upgaze1ALS2 CL E G H57679293168ORPHA1524443606352
HP:0000496HP:0033980Paroxysmal tonic upgaze1ALS2 CL E G H57679293168ORPHA1644443606352
HP:0000496HP:0025518Visual gaze preference1ALS2 CL E G H57679293168ORPHA1524443606352
HP:0000496HP:0025518Visual gaze preference1ALS2 CL E G H57679293168ORPHA1644443606352
HP:0000496HP:0000549Abnormal conjugate eye movement1ARMC9 CL E G H80210617622JOUBERT SYNDROME 30617622C4539937OMIM125120730617612
HP:0000496HP:0000549Abnormal conjugate eye movement1ARMC9 CL E G H80210617622JOUBERT SYNDROME 30617622C4539937OMIM138020730617612
HP:0000496HP:0012547Abnormal involuntary eye movements1ARMC9 CL E G H80210617622JOUBERT SYNDROME 30617622C4539937OMIM125120730617612
HP:0000496HP:0012547Abnormal involuntary eye movements1ARMC9 CL E G H80210617622JOUBERT SYNDROME 30617622C4539937OMIM138020730617612
HP:0000496HP:0500073Abnormal ocular alignment1ARMC9 CL E G H80210617622JOUBERT SYNDROME 30617622C4539937OMIM125120730617612
HP:0000496HP:0500073Abnormal ocular alignment1ARMC9 CL E G H80210617622JOUBERT SYNDROME 30617622C4539937OMIM138020730617612
HP:0000496HP:0000570Abnormal saccadic eye movements1ARMC9 CL E G H80210617622JOUBERT SYNDROME 30617622C4539937OMIM125120730617612
HP:0000496HP:0000570Abnormal saccadic eye movements1ARMC9 CL E G H80210617622JOUBERT SYNDROME 30617622C4539937OMIM138020730617612
HP:0000496HP:0025404Abnormal visual fixation1ARMC9 CL E G H80210617622JOUBERT SYNDROME 30617622C4539937OMIM125120730617612
HP:0000496HP:0025404Abnormal visual fixation1ARMC9 CL E G H80210617622JOUBERT SYNDROME 30617622C4539937OMIM138020730617612
HP:0000496HP:0011347Abnormality of ocular abduction1ARMC9 CL E G H80210617622JOUBERT SYNDROME 30617622C4539937OMIM125120730617612
HP:0000496HP:0011347Abnormality of ocular abduction1ARMC9 CL E G H80210617622JOUBERT SYNDROME 30617622C4539937OMIM138020730617612
HP:0000496HP:0000617Abnormality of ocular smooth pursuit1ARMC9 CL E G H80210617622JOUBERT SYNDROME 30617622C4539937OMIM125120730617612
HP:0000496HP:0000617Abnormality of ocular smooth pursuit1ARMC9 CL E G H80210617622JOUBERT SYNDROME 30617622C4539937OMIM138020730617612
HP:0000496HP:0031705Compensatory head posture1ARMC9 CL E G H80210617622JOUBERT SYNDROME 30617622C4539937OMIM125120730617612
HP:0000496HP:0031705Compensatory head posture1ARMC9 CL E G H80210617622JOUBERT SYNDROME 30617622C4539937OMIM138020730617612
HP:0000496HP:0000542Impaired ocular adduction1ARMC9 CL E G H80210617622JOUBERT SYNDROME 30617622C4539937OMIM125120730617612
HP:0000496HP:0000542Impaired ocular adduction1ARMC9 CL E G H80210617622JOUBERT SYNDROME 30617622C4539937OMIM138020730617612
HP:0000496HP:0007941Limited extraocular movements1ARMC9 CL E G H80210617622JOUBERT SYNDROME 30617622C4539937OMIM125120730617612
HP:0000496HP:0007941Limited extraocular movements1ARMC9 CL E G H80210617622JOUBERT SYNDROME 30617622C4539937OMIM138020730617612
HP:0000496HP:0025186Marcus Gunn jaw winking synkinesis1ARMC9 CL E G H80210617622JOUBERT SYNDROME 30617622C4539937OMIM125120730617612
HP:0000496HP:0025186Marcus Gunn jaw winking synkinesis1ARMC9 CL E G H80210617622JOUBERT SYNDROME 30617622C4539937OMIM138020730617612
HP:0000496HP:0000657Oculomotor apraxia1ARMC9 CL E G H80210617622JOUBERT SYNDROME 30617622C4539937OMIM125120730617612
HP:0000496HP:0000657Oculomotor apraxia1ARMC9 CL E G H80210617622JOUBERT SYNDROME 30617622C4539937OMIM138020730617612
HP:0000496HP:0033851Oculomotor synkinesis1ARMC9 CL E G H80210617622JOUBERT SYNDROME 30617622C4539937OMIM125120730617612
HP:0000496HP:0033851Oculomotor synkinesis1ARMC9 CL E G H80210617622JOUBERT SYNDROME 30617622C4539937OMIM138020730617612
HP:0000496HP:0000597Ophthalmoparesis1ARMC9 CL E G H80210617622JOUBERT SYNDROME 30617622C4539937OMIM125120730617612
HP:0000496HP:0000597Ophthalmoparesis1ARMC9 CL E G H80210617622JOUBERT SYNDROME 30617622C4539937OMIM138020730617612
HP:0000496HP:0033980Paroxysmal tonic upgaze1ARMC9 CL E G H80210617622JOUBERT SYNDROME 30617622C4539937OMIM125120730617612
HP:0000496HP:0033980Paroxysmal tonic upgaze1ARMC9 CL E G H80210617622JOUBERT SYNDROME 30617622C4539937OMIM138020730617612
HP:0000496HP:0025518Visual gaze preference1ARMC9 CL E G H80210617622JOUBERT SYNDROME 30617622C4539937OMIM125120730617612
HP:0000496HP:0025518Visual gaze preference1ARMC9 CL E G H80210617622JOUBERT SYNDROME 30617622C4539937OMIM138020730617612
HP:0000496HP:0000549Abnormal conjugate eye movement1CACNB4 CL E G H785307ORPHA13001404601949
HP:0000496HP:0000549Abnormal conjugate eye movement1CACNB4 CL E G H785307ORPHA13051404601949
HP:0000496HP:0012547Abnormal involuntary eye movements1CACNB4 CL E G H785307ORPHA13001404601949
HP:0000496HP:0012547Abnormal involuntary eye movements1CACNB4 CL E G H785307ORPHA13051404601949
HP:0000496HP:0500073Abnormal ocular alignment1CACNB4 CL E G H785307ORPHA13001404601949
HP:0000496HP:0500073Abnormal ocular alignment1CACNB4 CL E G H785307ORPHA13051404601949
HP:0000496HP:0000570Abnormal saccadic eye movements1CACNB4 CL E G H785307ORPHA13001404601949
HP:0000496HP:0000570Abnormal saccadic eye movements1CACNB4 CL E G H785307ORPHA13051404601949
HP:0000496HP:0025404Abnormal visual fixation1CACNB4 CL E G H785307ORPHA13001404601949
HP:0000496HP:0025404Abnormal visual fixation1CACNB4 CL E G H785307ORPHA13051404601949
HP:0000496HP:0011347Abnormality of ocular abduction1CACNB4 CL E G H785307ORPHA13001404601949
HP:0000496HP:0011347Abnormality of ocular abduction1CACNB4 CL E G H785307ORPHA13051404601949
HP:0000496HP:0000617Abnormality of ocular smooth pursuit1CACNB4 CL E G H785307ORPHA13001404601949
HP:0000496HP:0000617Abnormality of ocular smooth pursuit1CACNB4 CL E G H785307ORPHA13051404601949
HP:0000496HP:0031705Compensatory head posture1CACNB4 CL E G H785307ORPHA13001404601949
HP:0000496HP:0031705Compensatory head posture1CACNB4 CL E G H785307ORPHA13051404601949
HP:0000496HP:0000542Impaired ocular adduction1CACNB4 CL E G H785307ORPHA13001404601949
HP:0000496HP:0000542Impaired ocular adduction1CACNB4 CL E G H785307ORPHA13051404601949
HP:0000496HP:0007941Limited extraocular movements1CACNB4 CL E G H785307ORPHA13001404601949
HP:0000496HP:0007941Limited extraocular movements1CACNB4 CL E G H785307ORPHA13051404601949
HP:0000496HP:0025186Marcus Gunn jaw winking synkinesis1CACNB4 CL E G H785307ORPHA13001404601949
HP:0000496HP:0025186Marcus Gunn jaw winking synkinesis1CACNB4 CL E G H785307ORPHA13051404601949
HP:0000496HP:0000657Oculomotor apraxia1CACNB4 CL E G H785307ORPHA13001404601949
HP:0000496HP:0000657Oculomotor apraxia1CACNB4 CL E G H785307ORPHA13051404601949
HP:0000496HP:0033851Oculomotor synkinesis1CACNB4 CL E G H785307ORPHA13001404601949
HP:0000496HP:0033851Oculomotor synkinesis1CACNB4 CL E G H785307ORPHA13051404601949
HP:0000496HP:0000597Ophthalmoparesis1CACNB4 CL E G H785307ORPHA13001404601949
HP:0000496HP:0000597Ophthalmoparesis1CACNB4 CL E G H785307ORPHA13051404601949
HP:0000496HP:0033980Paroxysmal tonic upgaze1CACNB4 CL E G H785307ORPHA13001404601949
HP:0000496HP:0033980Paroxysmal tonic upgaze1CACNB4 CL E G H785307ORPHA13051404601949
HP:0000496HP:0025518Visual gaze preference1CACNB4 CL E G H785307ORPHA13001404601949
HP:0000496HP:0025518Visual gaze preference1CACNB4 CL E G H785307ORPHA13051404601949
HP:0000496HP:0000549Abnormal conjugate eye movement1CLCN2 CL E G H1181307ORPHA11632020600570
HP:0000496HP:0000549Abnormal conjugate eye movement1CLCN2 CL E G H1181307ORPHA11942020600570
HP:0000496HP:0012547Abnormal involuntary eye movements1CLCN2 CL E G H1181307ORPHA11632020600570
HP:0000496HP:0012547Abnormal involuntary eye movements1CLCN2 CL E G H1181307ORPHA11942020600570
HP:0000496HP:0500073Abnormal ocular alignment1CLCN2 CL E G H1181307ORPHA11632020600570
HP:0000496HP:0500073Abnormal ocular alignment1CLCN2 CL E G H1181307ORPHA11942020600570
HP:0000496HP:0000570Abnormal saccadic eye movements1CLCN2 CL E G H1181307ORPHA11632020600570
HP:0000496HP:0000570Abnormal saccadic eye movements1CLCN2 CL E G H1181307ORPHA11942020600570
HP:0000496HP:0025404Abnormal visual fixation1CLCN2 CL E G H1181307ORPHA11632020600570
HP:0000496HP:0025404Abnormal visual fixation1CLCN2 CL E G H1181307ORPHA11942020600570
HP:0000496HP:0011347Abnormality of ocular abduction1CLCN2 CL E G H1181307ORPHA11632020600570
HP:0000496HP:0011347Abnormality of ocular abduction1CLCN2 CL E G H1181307ORPHA11942020600570
HP:0000496HP:0000617Abnormality of ocular smooth pursuit1CLCN2 CL E G H1181307ORPHA11632020600570
HP:0000496HP:0000617Abnormality of ocular smooth pursuit1CLCN2 CL E G H1181307ORPHA11942020600570
HP:0000496HP:0031705Compensatory head posture1CLCN2 CL E G H1181307ORPHA11632020600570
HP:0000496HP:0031705Compensatory head posture1CLCN2 CL E G H1181307ORPHA11942020600570
HP:0000496HP:0000542Impaired ocular adduction1CLCN2 CL E G H1181307ORPHA11632020600570
HP:0000496HP:0000542Impaired ocular adduction1CLCN2 CL E G H1181307ORPHA11942020600570
HP:0000496HP:0007941Limited extraocular movements1CLCN2 CL E G H1181307ORPHA11632020600570
HP:0000496HP:0007941Limited extraocular movements1CLCN2 CL E G H1181307ORPHA11942020600570
HP:0000496HP:0025186Marcus Gunn jaw winking synkinesis1CLCN2 CL E G H1181307ORPHA11632020600570
HP:0000496HP:0025186Marcus Gunn jaw winking synkinesis1CLCN2 CL E G H1181307ORPHA11942020600570
HP:0000496HP:0000657Oculomotor apraxia1CLCN2 CL E G H1181307ORPHA11632020600570
HP:0000496HP:0000657Oculomotor apraxia1CLCN2 CL E G H1181307ORPHA11942020600570
HP:0000496HP:0033851Oculomotor synkinesis1CLCN2 CL E G H1181307ORPHA11632020600570
HP:0000496HP:0033851Oculomotor synkinesis1CLCN2 CL E G H1181307ORPHA11942020600570
HP:0000496HP:0000597Ophthalmoparesis1CLCN2 CL E G H1181307ORPHA11632020600570
HP:0000496HP:0000597Ophthalmoparesis1CLCN2 CL E G H1181307ORPHA11942020600570
HP:0000496HP:0033980Paroxysmal tonic upgaze1CLCN2 CL E G H1181307ORPHA11632020600570
HP:0000496HP:0033980Paroxysmal tonic upgaze1CLCN2 CL E G H1181307ORPHA11942020600570
HP:0000496HP:0025518Visual gaze preference1CLCN2 CL E G H1181307ORPHA11632020600570
HP:0000496HP:0025518Visual gaze preference1CLCN2 CL E G H1181307ORPHA11942020600570
HP:0000496HP:0000549Abnormal conjugate eye movement1EFHC1 CL E G H114327307ORPHA142416406608815
HP:0000496HP:0000549Abnormal conjugate eye movement1EFHC1 CL E G H114327307ORPHA143216406608815
HP:0000496HP:0012547Abnormal involuntary eye movements1EFHC1 CL E G H114327307ORPHA142416406608815
HP:0000496HP:0012547Abnormal involuntary eye movements1EFHC1 CL E G H114327307ORPHA143216406608815
HP:0000496HP:0500073Abnormal ocular alignment1EFHC1 CL E G H114327307ORPHA142416406608815
HP:0000496HP:0500073Abnormal ocular alignment1EFHC1 CL E G H114327307ORPHA143216406608815
HP:0000496HP:0000570Abnormal saccadic eye movements1EFHC1 CL E G H114327307ORPHA142416406608815
HP:0000496HP:0000570Abnormal saccadic eye movements1EFHC1 CL E G H114327307ORPHA143216406608815
HP:0000496HP:0025404Abnormal visual fixation1EFHC1 CL E G H114327307ORPHA142416406608815
HP:0000496HP:0025404Abnormal visual fixation1EFHC1 CL E G H114327307ORPHA143216406608815
HP:0000496HP:0011347Abnormality of ocular abduction1EFHC1 CL E G H114327307ORPHA142416406608815
HP:0000496HP:0011347Abnormality of ocular abduction1EFHC1 CL E G H114327307ORPHA143216406608815
HP:0000496HP:0000617Abnormality of ocular smooth pursuit1EFHC1 CL E G H114327307ORPHA142416406608815
HP:0000496HP:0000617Abnormality of ocular smooth pursuit1EFHC1 CL E G H114327307ORPHA143216406608815
HP:0000496HP:0031705Compensatory head posture1EFHC1 CL E G H114327307ORPHA142416406608815
HP:0000496HP:0031705Compensatory head posture1EFHC1 CL E G H114327307ORPHA143216406608815
HP:0000496HP:0000542Impaired ocular adduction1EFHC1 CL E G H114327307ORPHA142416406608815
HP:0000496HP:0000542Impaired ocular adduction1EFHC1 CL E G H114327307ORPHA143216406608815
HP:0000496HP:0007941Limited extraocular movements1EFHC1 CL E G H114327307ORPHA142416406608815
HP:0000496HP:0007941Limited extraocular movements1EFHC1 CL E G H114327307ORPHA143216406608815
HP:0000496HP:0025186Marcus Gunn jaw winking synkinesis1EFHC1 CL E G H114327307ORPHA142416406608815
HP:0000496HP:0025186Marcus Gunn jaw winking synkinesis1EFHC1 CL E G H114327307ORPHA143216406608815
HP:0000496HP:0000657Oculomotor apraxia1EFHC1 CL E G H114327307ORPHA142416406608815
HP:0000496HP:0000657Oculomotor apraxia1EFHC1 CL E G H114327307ORPHA143216406608815
HP:0000496HP:0033851Oculomotor synkinesis1EFHC1 CL E G H114327307ORPHA142416406608815
HP:0000496HP:0033851Oculomotor synkinesis1EFHC1 CL E G H114327307ORPHA143216406608815
HP:0000496HP:0000597Ophthalmoparesis1EFHC1 CL E G H114327307ORPHA142416406608815
HP:0000496HP:0000597Ophthalmoparesis1EFHC1 CL E G H114327307ORPHA143216406608815
HP:0000496HP:0033980Paroxysmal tonic upgaze1EFHC1 CL E G H114327307ORPHA142416406608815
HP:0000496HP:0033980Paroxysmal tonic upgaze1EFHC1 CL E G H114327307ORPHA143216406608815
HP:0000496HP:0025518Visual gaze preference1EFHC1 CL E G H114327307ORPHA142416406608815
HP:0000496HP:0025518Visual gaze preference1EFHC1 CL E G H114327307ORPHA143216406608815
HP:0000496HP:0000549Abnormal conjugate eye movement1EFHC1 CL E G H1143271941ORPHA142416406608815
HP:0000496HP:0000549Abnormal conjugate eye movement1EFHC1 CL E G H1143271941ORPHA143216406608815
HP:0000496HP:0012547Abnormal involuntary eye movements1EFHC1 CL E G H1143271941ORPHA142416406608815
HP:0000496HP:0012547Abnormal involuntary eye movements1EFHC1 CL E G H1143271941ORPHA143216406608815
HP:0000496HP:0500073Abnormal ocular alignment1EFHC1 CL E G H1143271941ORPHA142416406608815
HP:0000496HP:0500073Abnormal ocular alignment1EFHC1 CL E G H1143271941ORPHA143216406608815
HP:0000496HP:0000570Abnormal saccadic eye movements1EFHC1 CL E G H1143271941ORPHA142416406608815
HP:0000496HP:0000570Abnormal saccadic eye movements1EFHC1 CL E G H1143271941ORPHA143216406608815
HP:0000496HP:0025404Abnormal visual fixation1EFHC1 CL E G H1143271941ORPHA142416406608815
HP:0000496HP:0025404Abnormal visual fixation1EFHC1 CL E G H1143271941ORPHA143216406608815
HP:0000496HP:0011347Abnormality of ocular abduction1EFHC1 CL E G H1143271941ORPHA142416406608815
HP:0000496HP:0011347Abnormality of ocular abduction1EFHC1 CL E G H1143271941ORPHA143216406608815
HP:0000496HP:0000617Abnormality of ocular smooth pursuit1EFHC1 CL E G H1143271941ORPHA142416406608815
HP:0000496HP:0000617Abnormality of ocular smooth pursuit1EFHC1 CL E G H1143271941ORPHA143216406608815
HP:0000496HP:0031705Compensatory head posture1EFHC1 CL E G H1143271941ORPHA142416406608815
HP:0000496HP:0031705Compensatory head posture1EFHC1 CL E G H1143271941ORPHA143216406608815
HP:0000496HP:0000542Impaired ocular adduction1EFHC1 CL E G H1143271941ORPHA142416406608815
HP:0000496HP:0000542Impaired ocular adduction1EFHC1 CL E G H1143271941ORPHA143216406608815
HP:0000496HP:0007941Limited extraocular movements1EFHC1 CL E G H1143271941ORPHA142416406608815
HP:0000496HP:0007941Limited extraocular movements1EFHC1 CL E G H1143271941ORPHA143216406608815
HP:0000496HP:0025186Marcus Gunn jaw winking synkinesis1EFHC1 CL E G H1143271941ORPHA142416406608815
HP:0000496HP:0025186Marcus Gunn jaw winking synkinesis1EFHC1 CL E G H1143271941ORPHA143216406608815
HP:0000496HP:0000657Oculomotor apraxia1EFHC1 CL E G H1143271941ORPHA142416406608815
HP:0000496HP:0000657Oculomotor apraxia1EFHC1 CL E G H1143271941ORPHA143216406608815
HP:0000496HP:0033851Oculomotor synkinesis1EFHC1 CL E G H1143271941ORPHA142416406608815
HP:0000496HP:0033851Oculomotor synkinesis1EFHC1 CL E G H1143271941ORPHA143216406608815
HP:0000496HP:0000597Ophthalmoparesis1EFHC1 CL E G H1143271941ORPHA142416406608815
HP:0000496HP:0000597Ophthalmoparesis1EFHC1 CL E G H1143271941ORPHA143216406608815
HP:0000496HP:0033980Paroxysmal tonic upgaze1EFHC1 CL E G H1143271941ORPHA142416406608815
HP:0000496HP:0033980Paroxysmal tonic upgaze1EFHC1 CL E G H1143271941ORPHA143216406608815
HP:0000496HP:0025518Visual gaze preference1EFHC1 CL E G H1143271941ORPHA142416406608815
HP:0000496HP:0025518Visual gaze preference1EFHC1 CL E G H1143271941ORPHA143216406608815
HP:0000496HP:0000549Abnormal conjugate eye movement1GABRA1 CL E G H2554307ORPHA14184075137160
HP:0000496HP:0000549Abnormal conjugate eye movement1GABRA1 CL E G H2554307ORPHA14584075137160
HP:0000496HP:0012547Abnormal involuntary eye movements1GABRA1 CL E G H2554307ORPHA14184075137160
HP:0000496HP:0012547Abnormal involuntary eye movements1GABRA1 CL E G H2554307ORPHA14584075137160
HP:0000496HP:0500073Abnormal ocular alignment1GABRA1 CL E G H2554307ORPHA14184075137160
HP:0000496HP:0500073Abnormal ocular alignment1GABRA1 CL E G H2554307ORPHA14584075137160
HP:0000496HP:0000570Abnormal saccadic eye movements1GABRA1 CL E G H2554307ORPHA14184075137160
HP:0000496HP:0000570Abnormal saccadic eye movements1GABRA1 CL E G H2554307ORPHA14584075137160
HP:0000496HP:0025404Abnormal visual fixation1GABRA1 CL E G H2554307ORPHA14184075137160
HP:0000496HP:0025404Abnormal visual fixation1GABRA1 CL E G H2554307ORPHA14584075137160
HP:0000496HP:0011347Abnormality of ocular abduction1GABRA1 CL E G H2554307ORPHA14184075137160
HP:0000496HP:0011347Abnormality of ocular abduction1GABRA1 CL E G H2554307ORPHA14584075137160
HP:0000496HP:0000617Abnormality of ocular smooth pursuit1GABRA1 CL E G H2554307ORPHA14184075137160
HP:0000496HP:0000617Abnormality of ocular smooth pursuit1GABRA1 CL E G H2554307ORPHA14584075137160
HP:0000496HP:0031705Compensatory head posture1GABRA1 CL E G H2554307ORPHA14184075137160
HP:0000496HP:0031705Compensatory head posture1GABRA1 CL E G H2554307ORPHA14584075137160
HP:0000496HP:0000542Impaired ocular adduction1GABRA1 CL E G H2554307ORPHA14184075137160
HP:0000496HP:0000542Impaired ocular adduction1GABRA1 CL E G H2554307ORPHA14584075137160
HP:0000496HP:0007941Limited extraocular movements1GABRA1 CL E G H2554307ORPHA14184075137160
HP:0000496HP:0007941Limited extraocular movements1GABRA1 CL E G H2554307ORPHA14584075137160
HP:0000496HP:0025186Marcus Gunn jaw winking synkinesis1GABRA1 CL E G H2554307ORPHA14184075137160
HP:0000496HP:0025186Marcus Gunn jaw winking synkinesis1GABRA1 CL E G H2554307ORPHA14584075137160
HP:0000496HP:0000657Oculomotor apraxia1GABRA1 CL E G H2554307ORPHA14184075137160
HP:0000496HP:0000657Oculomotor apraxia1GABRA1 CL E G H2554307ORPHA14584075137160
HP:0000496HP:0033851Oculomotor synkinesis1GABRA1 CL E G H2554307ORPHA14184075137160
HP:0000496HP:0033851Oculomotor synkinesis1GABRA1 CL E G H2554307ORPHA14584075137160
HP:0000496HP:0000597Ophthalmoparesis1GABRA1 CL E G H2554307ORPHA14184075137160
HP:0000496HP:0000597Ophthalmoparesis1GABRA1 CL E G H2554307ORPHA14584075137160
HP:0000496HP:0033980Paroxysmal tonic upgaze1GABRA1 CL E G H2554307ORPHA14184075137160
HP:0000496HP:0033980Paroxysmal tonic upgaze1GABRA1 CL E G H2554307ORPHA14584075137160
HP:0000496HP:0025518Visual gaze preference1GABRA1 CL E G H2554307ORPHA14184075137160
HP:0000496HP:0025518Visual gaze preference1GABRA1 CL E G H2554307ORPHA14584075137160
HP:0000496HP:0000549Abnormal conjugate eye movement1GABRD CL E G H2563307ORPHA13404084137163
HP:0000496HP:0000549Abnormal conjugate eye movement1GABRD CL E G H2563307ORPHA13614084137163
HP:0000496HP:0012547Abnormal involuntary eye movements1GABRD CL E G H2563307ORPHA13404084137163
HP:0000496HP:0012547Abnormal involuntary eye movements1GABRD CL E G H2563307ORPHA13614084137163
HP:0000496HP:0500073Abnormal ocular alignment1GABRD CL E G H2563307ORPHA13404084137163
HP:0000496HP:0500073Abnormal ocular alignment1GABRD CL E G H2563307ORPHA13614084137163
HP:0000496HP:0000570Abnormal saccadic eye movements1GABRD CL E G H2563307ORPHA13404084137163
HP:0000496HP:0000570Abnormal saccadic eye movements1GABRD CL E G H2563307ORPHA13614084137163
HP:0000496HP:0025404Abnormal visual fixation1GABRD CL E G H2563307ORPHA13404084137163
HP:0000496HP:0025404Abnormal visual fixation1GABRD CL E G H2563307ORPHA13614084137163
HP:0000496HP:0011347Abnormality of ocular abduction1GABRD CL E G H2563307ORPHA13404084137163
HP:0000496HP:0011347Abnormality of ocular abduction1GABRD CL E G H2563307ORPHA13614084137163
HP:0000496HP:0000617Abnormality of ocular smooth pursuit1GABRD CL E G H2563307ORPHA13404084137163
HP:0000496HP:0000617Abnormality of ocular smooth pursuit1GABRD CL E G H2563307ORPHA13614084137163
HP:0000496HP:0031705Compensatory head posture1GABRD CL E G H2563307ORPHA13404084137163
HP:0000496HP:0031705Compensatory head posture1GABRD CL E G H2563307ORPHA13614084137163
HP:0000496HP:0000542Impaired ocular adduction1GABRD CL E G H2563307ORPHA13404084137163
HP:0000496HP:0000542Impaired ocular adduction1GABRD CL E G H2563307ORPHA13614084137163
HP:0000496HP:0007941Limited extraocular movements1GABRD CL E G H2563307ORPHA13404084137163
HP:0000496HP:0007941Limited extraocular movements1GABRD CL E G H2563307ORPHA13614084137163
HP:0000496HP:0025186Marcus Gunn jaw winking synkinesis1GABRD CL E G H2563307ORPHA13404084137163
HP:0000496HP:0025186Marcus Gunn jaw winking synkinesis1GABRD CL E G H2563307ORPHA13614084137163
HP:0000496HP:0000657Oculomotor apraxia1GABRD CL E G H2563307ORPHA13404084137163
HP:0000496HP:0000657Oculomotor apraxia1GABRD CL E G H2563307ORPHA13614084137163
HP:0000496HP:0033851Oculomotor synkinesis1GABRD CL E G H2563307ORPHA13404084137163
HP:0000496HP:0033851Oculomotor synkinesis1GABRD CL E G H2563307ORPHA13614084137163
HP:0000496HP:0000597Ophthalmoparesis1GABRD CL E G H2563307ORPHA13404084137163
HP:0000496HP:0000597Ophthalmoparesis1GABRD CL E G H2563307ORPHA13614084137163
HP:0000496HP:0033980Paroxysmal tonic upgaze1GABRD CL E G H2563307ORPHA13404084137163
HP:0000496HP:0033980Paroxysmal tonic upgaze1GABRD CL E G H2563307ORPHA13614084137163
HP:0000496HP:0025518Visual gaze preference1GABRD CL E G H2563307ORPHA13404084137163
HP:0000496HP:0025518Visual gaze preference1GABRD CL E G H2563307ORPHA13614084137163
HP:0000496HP:0000549Abnormal conjugate eye movement1GCH1 CL E G H2643233910GTP cyclohydrolase I deficiency233910C0268467OMIM12574193600225
HP:0000496HP:0000549Abnormal conjugate eye movement1GCH1 CL E G H2643233910GTP cyclohydrolase I deficiency233910C0268467OMIM13154193600225
HP:0000496HP:0012547Abnormal involuntary eye movements1GCH1 CL E G H2643233910GTP cyclohydrolase I deficiency233910C0268467OMIM12574193600225
HP:0000496HP:0012547Abnormal involuntary eye movements1GCH1 CL E G H2643233910GTP cyclohydrolase I deficiency233910C0268467OMIM13154193600225
HP:0000496HP:0500073Abnormal ocular alignment1GCH1 CL E G H2643233910GTP cyclohydrolase I deficiency233910C0268467OMIM12574193600225
HP:0000496HP:0500073Abnormal ocular alignment1GCH1 CL E G H2643233910GTP cyclohydrolase I deficiency233910C0268467OMIM13154193600225
HP:0000496HP:0000570Abnormal saccadic eye movements1GCH1 CL E G H2643233910GTP cyclohydrolase I deficiency233910C0268467OMIM12574193600225
HP:0000496HP:0000570Abnormal saccadic eye movements1GCH1 CL E G H2643233910GTP cyclohydrolase I deficiency233910C0268467OMIM13154193600225
HP:0000496HP:0025404Abnormal visual fixation1GCH1 CL E G H2643233910GTP cyclohydrolase I deficiency233910C0268467OMIM12574193600225
HP:0000496HP:0025404Abnormal visual fixation1GCH1 CL E G H2643233910GTP cyclohydrolase I deficiency233910C0268467OMIM13154193600225
HP:0000496HP:0011347Abnormality of ocular abduction1GCH1 CL E G H2643233910GTP cyclohydrolase I deficiency233910C0268467OMIM12574193600225
HP:0000496HP:0011347Abnormality of ocular abduction1GCH1 CL E G H2643233910GTP cyclohydrolase I deficiency233910C0268467OMIM13154193600225
HP:0000496HP:0000617Abnormality of ocular smooth pursuit1GCH1 CL E G H2643233910GTP cyclohydrolase I deficiency233910C0268467OMIM12574193600225
HP:0000496HP:0000617Abnormality of ocular smooth pursuit1GCH1 CL E G H2643233910GTP cyclohydrolase I deficiency233910C0268467OMIM13154193600225
HP:0000496HP:0031705Compensatory head posture1GCH1 CL E G H2643233910GTP cyclohydrolase I deficiency233910C0268467OMIM12574193600225
HP:0000496HP:0031705Compensatory head posture1GCH1 CL E G H2643233910GTP cyclohydrolase I deficiency233910C0268467OMIM13154193600225
HP:0000496HP:0000542Impaired ocular adduction1GCH1 CL E G H2643233910GTP cyclohydrolase I deficiency233910C0268467OMIM12574193600225
HP:0000496HP:0000542Impaired ocular adduction1GCH1 CL E G H2643233910GTP cyclohydrolase I deficiency233910C0268467OMIM13154193600225
HP:0000496HP:0007941Limited extraocular movements1GCH1 CL E G H2643233910GTP cyclohydrolase I deficiency233910C0268467OMIM12574193600225
HP:0000496HP:0007941Limited extraocular movements1GCH1 CL E G H2643233910GTP cyclohydrolase I deficiency233910C0268467OMIM13154193600225
HP:0000496HP:0025186Marcus Gunn jaw winking synkinesis1GCH1 CL E G H2643233910GTP cyclohydrolase I deficiency233910C0268467OMIM12574193600225
HP:0000496HP:0025186Marcus Gunn jaw winking synkinesis1GCH1 CL E G H2643233910GTP cyclohydrolase I deficiency233910C0268467OMIM13154193600225
HP:0000496HP:0000657Oculomotor apraxia1GCH1 CL E G H2643233910GTP cyclohydrolase I deficiency233910C0268467OMIM12574193600225
HP:0000496HP:0000657Oculomotor apraxia1GCH1 CL E G H2643233910GTP cyclohydrolase I deficiency233910C0268467OMIM13154193600225
HP:0000496HP:0033851Oculomotor synkinesis1GCH1 CL E G H2643233910GTP cyclohydrolase I deficiency233910C0268467OMIM12574193600225
HP:0000496HP:0033851Oculomotor synkinesis1GCH1 CL E G H2643233910GTP cyclohydrolase I deficiency233910C0268467OMIM13154193600225
HP:0000496HP:0000597Ophthalmoparesis1GCH1 CL E G H2643233910GTP cyclohydrolase I deficiency233910C0268467OMIM12574193600225
HP:0000496HP:0000597Ophthalmoparesis1GCH1 CL E G H2643233910GTP cyclohydrolase I deficiency233910C0268467OMIM13154193600225
HP:0000496HP:0033980Paroxysmal tonic upgaze1GCH1 CL E G H2643233910GTP cyclohydrolase I deficiency233910C0268467OMIM12574193600225
HP:0000496HP:0033980Paroxysmal tonic upgaze1GCH1 CL E G H2643233910GTP cyclohydrolase I deficiency233910C0268467OMIM13154193600225
HP:0000496HP:0025518Visual gaze preference1GCH1 CL E G H2643233910GTP cyclohydrolase I deficiency233910C0268467OMIM12574193600225
HP:0000496HP:0025518Visual gaze preference1GCH1 CL E G H2643233910GTP cyclohydrolase I deficiency233910C0268467OMIM13154193600225
HP:0000496HP:0000549Abnormal conjugate eye movement1HOXA1 CL E G H3198601536Athabaskan brainstem dysgenesis601536C1832215OMIM11125099142955
HP:0000496HP:0000549Abnormal conjugate eye movement1HOXA1 CL E G H3198601536Athabaskan brainstem dysgenesis601536C1832215OMIM11135099142955
HP:0000496HP:0012547Abnormal involuntary eye movements1HOXA1 CL E G H3198601536Athabaskan brainstem dysgenesis601536C1832215OMIM11125099142955
HP:0000496HP:0012547Abnormal involuntary eye movements1HOXA1 CL E G H3198601536Athabaskan brainstem dysgenesis601536C1832215OMIM11135099142955
HP:0000496HP:0500073Abnormal ocular alignment1HOXA1 CL E G H3198601536Athabaskan brainstem dysgenesis601536C1832215OMIM11125099142955
HP:0000496HP:0500073Abnormal ocular alignment1HOXA1 CL E G H3198601536Athabaskan brainstem dysgenesis601536C1832215OMIM11135099142955
HP:0000496HP:0000570Abnormal saccadic eye movements1HOXA1 CL E G H3198601536Athabaskan brainstem dysgenesis601536C1832215OMIM11125099142955
HP:0000496HP:0000570Abnormal saccadic eye movements1HOXA1 CL E G H3198601536Athabaskan brainstem dysgenesis601536C1832215OMIM11135099142955
HP:0000496HP:0025404Abnormal visual fixation1HOXA1 CL E G H3198601536Athabaskan brainstem dysgenesis601536C1832215OMIM11125099142955
HP:0000496HP:0025404Abnormal visual fixation1HOXA1 CL E G H3198601536Athabaskan brainstem dysgenesis601536C1832215OMIM11135099142955
HP:0000496HP:0011347Abnormality of ocular abduction1HOXA1 CL E G H3198601536Athabaskan brainstem dysgenesis601536C1832215OMIM11125099142955
HP:0000496HP:0011347Abnormality of ocular abduction1HOXA1 CL E G H3198601536Athabaskan brainstem dysgenesis601536C1832215OMIM11135099142955
HP:0000496HP:0000617Abnormality of ocular smooth pursuit1HOXA1 CL E G H3198601536Athabaskan brainstem dysgenesis601536C1832215OMIM11125099142955
HP:0000496HP:0000617Abnormality of ocular smooth pursuit1HOXA1 CL E G H3198601536Athabaskan brainstem dysgenesis601536C1832215OMIM11135099142955
HP:0000496HP:0031705Compensatory head posture1HOXA1 CL E G H3198601536Athabaskan brainstem dysgenesis601536C1832215OMIM11125099142955
HP:0000496HP:0031705Compensatory head posture1HOXA1 CL E G H3198601536Athabaskan brainstem dysgenesis601536C1832215OMIM11135099142955
HP:0000496HP:0000542Impaired ocular adduction1HOXA1 CL E G H3198601536Athabaskan brainstem dysgenesis601536C1832215OMIM11125099142955
HP:0000496HP:0000542Impaired ocular adduction1HOXA1 CL E G H3198601536Athabaskan brainstem dysgenesis601536C1832215OMIM11135099142955
HP:0000496HP:0007941Limited extraocular movements1HOXA1 CL E G H3198601536Athabaskan brainstem dysgenesis601536C1832215OMIM11125099142955
HP:0000496HP:0007941Limited extraocular movements1HOXA1 CL E G H3198601536Athabaskan brainstem dysgenesis601536C1832215OMIM11135099142955
HP:0000496HP:0025186Marcus Gunn jaw winking synkinesis1HOXA1 CL E G H3198601536Athabaskan brainstem dysgenesis601536C1832215OMIM11125099142955
HP:0000496HP:0025186Marcus Gunn jaw winking synkinesis1HOXA1 CL E G H3198601536Athabaskan brainstem dysgenesis601536C1832215OMIM11135099142955
HP:0000496HP:0000657Oculomotor apraxia1HOXA1 CL E G H3198601536Athabaskan brainstem dysgenesis601536C1832215OMIM11125099142955
HP:0000496HP:0000657Oculomotor apraxia1HOXA1 CL E G H3198601536Athabaskan brainstem dysgenesis601536C1832215OMIM11135099142955
HP:0000496HP:0033851Oculomotor synkinesis1HOXA1 CL E G H3198601536Athabaskan brainstem dysgenesis601536C1832215OMIM11125099142955
HP:0000496HP:0033851Oculomotor synkinesis1HOXA1 CL E G H3198601536Athabaskan brainstem dysgenesis601536C1832215OMIM11135099142955
HP:0000496HP:0000597Ophthalmoparesis1HOXA1 CL E G H3198601536Athabaskan brainstem dysgenesis601536C1832215OMIM11125099142955
HP:0000496HP:0000597Ophthalmoparesis1HOXA1 CL E G H3198601536Athabaskan brainstem dysgenesis601536C1832215OMIM11135099142955
HP:0000496HP:0033980Paroxysmal tonic upgaze1HOXA1 CL E G H3198601536Athabaskan brainstem dysgenesis601536C1832215OMIM11125099142955
HP:0000496HP:0033980Paroxysmal tonic upgaze1HOXA1 CL E G H3198601536Athabaskan brainstem dysgenesis601536C1832215OMIM11135099142955
HP:0000496HP:0025518Visual gaze preference1HOXA1 CL E G H3198601536Athabaskan brainstem dysgenesis601536C1832215OMIM11125099142955
HP:0000496HP:0025518Visual gaze preference1HOXA1 CL E G H3198601536Athabaskan brainstem dysgenesis601536C1832215OMIM11135099142955
HP:0000496HP:0000549Abnormal conjugate eye movement1HTT CL E G H3064143100Huntington's chorea143100C0020179OMIM11454851613004
HP:0000496HP:0000549Abnormal conjugate eye movement1HTT CL E G H3064143100Huntington's chorea143100C0020179OMIM13934851613004
HP:0000496HP:0012547Abnormal involuntary eye movements1HTT CL E G H3064143100Huntington's chorea143100C0020179OMIM11454851613004
HP:0000496HP:0012547Abnormal involuntary eye movements1HTT CL E G H3064143100Huntington's chorea143100C0020179OMIM13934851613004
HP:0000496HP:0500073Abnormal ocular alignment1HTT CL E G H3064143100Huntington's chorea143100C0020179OMIM11454851613004
HP:0000496HP:0500073Abnormal ocular alignment1HTT CL E G H3064143100Huntington's chorea143100C0020179OMIM13934851613004
HP:0000496HP:0000570Abnormal saccadic eye movements1HTT CL E G H3064143100Huntington's chorea143100C0020179OMIM11454851613004
HP:0000496HP:0000570Abnormal saccadic eye movements1HTT CL E G H3064143100Huntington's chorea143100C0020179OMIM13934851613004
HP:0000496HP:0025404Abnormal visual fixation1HTT CL E G H3064143100Huntington's chorea143100C0020179OMIM11454851613004
HP:0000496HP:0025404Abnormal visual fixation1HTT CL E G H3064143100Huntington's chorea143100C0020179OMIM13934851613004
HP:0000496HP:0011347Abnormality of ocular abduction1HTT CL E G H3064143100Huntington's chorea143100C0020179OMIM11454851613004
HP:0000496HP:0011347Abnormality of ocular abduction1HTT CL E G H3064143100Huntington's chorea143100C0020179OMIM13934851613004
HP:0000496HP:0000617Abnormality of ocular smooth pursuit1HTT CL E G H3064143100Huntington's chorea143100C0020179OMIM11454851613004
HP:0000496HP:0000617Abnormality of ocular smooth pursuit1HTT CL E G H3064143100Huntington's chorea143100C0020179OMIM13934851613004
HP:0000496HP:0031705Compensatory head posture1HTT CL E G H3064143100Huntington's chorea143100C0020179OMIM11454851613004
HP:0000496HP:0031705Compensatory head posture1HTT CL E G H3064143100Huntington's chorea143100C0020179OMIM13934851613004
HP:0000496HP:0000542Impaired ocular adduction1HTT CL E G H3064143100Huntington's chorea143100C0020179OMIM11454851613004
HP:0000496HP:0000542Impaired ocular adduction1HTT CL E G H3064143100Huntington's chorea143100C0020179OMIM13934851613004
HP:0000496HP:0007941Limited extraocular movements1HTT CL E G H3064143100Huntington's chorea143100C0020179OMIM11454851613004
HP:0000496HP:0007941Limited extraocular movements1HTT CL E G H3064143100Huntington's chorea143100C0020179OMIM13934851613004
HP:0000496HP:0025186Marcus Gunn jaw winking synkinesis1HTT CL E G H3064143100Huntington's chorea143100C0020179OMIM11454851613004
HP:0000496HP:0025186Marcus Gunn jaw winking synkinesis1HTT CL E G H3064143100Huntington's chorea143100C0020179OMIM13934851613004
HP:0000496HP:0000657Oculomotor apraxia1HTT CL E G H3064143100Huntington's chorea143100C0020179OMIM11454851613004
HP:0000496HP:0000657Oculomotor apraxia1HTT CL E G H3064143100Huntington's chorea143100C0020179OMIM13934851613004
HP:0000496HP:0033851Oculomotor synkinesis1HTT CL E G H3064143100Huntington's chorea143100C0020179OMIM11454851613004
HP:0000496HP:0033851Oculomotor synkinesis1HTT CL E G H3064143100Huntington's chorea143100C0020179OMIM13934851613004
HP:0000496HP:0000597Ophthalmoparesis1HTT CL E G H3064143100Huntington's chorea143100C0020179OMIM11454851613004
HP:0000496HP:0000597Ophthalmoparesis1HTT CL E G H3064143100Huntington's chorea143100C0020179OMIM13934851613004
HP:0000496HP:0033980Paroxysmal tonic upgaze1HTT CL E G H3064143100Huntington's chorea143100C0020179OMIM11454851613004
HP:0000496HP:0033980Paroxysmal tonic upgaze1HTT CL E G H3064143100Huntington's chorea143100C0020179OMIM13934851613004
HP:0000496HP:0025518Visual gaze preference1HTT CL E G H3064143100Huntington's chorea143100C0020179OMIM11454851613004
HP:0000496HP:0025518Visual gaze preference1HTT CL E G H3064143100Huntington's chorea143100C0020179OMIM13934851613004
HP:0000496HP:0000549Abnormal conjugate eye movement1ICK CL E G H22858307ORPHA121219612325
HP:0000496HP:0012547Abnormal involuntary eye movements1ICK CL E G H22858307ORPHA121219612325
HP:0000496HP:0500073Abnormal ocular alignment1ICK CL E G H22858307ORPHA121219612325
HP:0000496HP:0000570Abnormal saccadic eye movements1ICK CL E G H22858307ORPHA121219612325
HP:0000496HP:0025404Abnormal visual fixation1ICK CL E G H22858307ORPHA121219612325
HP:0000496HP:0011347Abnormality of ocular abduction1ICK CL E G H22858307ORPHA121219612325
HP:0000496HP:0000617Abnormality of ocular smooth pursuit1ICK CL E G H22858307ORPHA121219612325
HP:0000496HP:0031705Compensatory head posture1ICK CL E G H22858307ORPHA121219612325
HP:0000496HP:0000542Impaired ocular adduction1ICK CL E G H22858307ORPHA121219612325
HP:0000496HP:0007941Limited extraocular movements1ICK CL E G H22858307ORPHA121219612325
HP:0000496HP:0025186Marcus Gunn jaw winking synkinesis1ICK CL E G H22858307ORPHA121219612325
HP:0000496HP:0000657Oculomotor apraxia1ICK CL E G H22858307ORPHA121219612325
HP:0000496HP:0033851Oculomotor synkinesis1ICK CL E G H22858307ORPHA121219612325
HP:0000496HP:0000597Ophthalmoparesis1ICK CL E G H22858307ORPHA121219612325
HP:0000496HP:0033980Paroxysmal tonic upgaze1ICK CL E G H22858307ORPHA121219612325
HP:0000496HP:0025518Visual gaze preference1ICK CL E G H22858307ORPHA121219612325
HP:0000496HP:0000549Abnormal conjugate eye movement1JRK CL E G H8629307ORPHA1646199603210
HP:0000496HP:0012547Abnormal involuntary eye movements1JRK CL E G H8629307ORPHA1646199603210
HP:0000496HP:0500073Abnormal ocular alignment1JRK CL E G H8629307ORPHA1646199603210
HP:0000496HP:0000570Abnormal saccadic eye movements1JRK CL E G H8629307ORPHA1646199603210
HP:0000496HP:0025404Abnormal visual fixation1JRK CL E G H8629307ORPHA1646199603210
HP:0000496HP:0011347Abnormality of ocular abduction1JRK CL E G H8629307ORPHA1646199603210
HP:0000496HP:0000617Abnormality of ocular smooth pursuit1JRK CL E G H8629307ORPHA1646199603210
HP:0000496HP:0031705Compensatory head posture1JRK CL E G H8629307ORPHA1646199603210
HP:0000496HP:0000542Impaired ocular adduction1JRK CL E G H8629307ORPHA1646199603210
HP:0000496HP:0007941Limited extraocular movements1JRK CL E G H8629307ORPHA1646199603210
HP:0000496HP:0025186Marcus Gunn jaw winking synkinesis1JRK CL E G H8629307ORPHA1646199603210
HP:0000496HP:0000657Oculomotor apraxia1JRK CL E G H8629307ORPHA1646199603210
HP:0000496HP:0033851Oculomotor synkinesis1JRK CL E G H8629307ORPHA1646199603210
HP:0000496HP:0000597Ophthalmoparesis1JRK CL E G H8629307ORPHA1646199603210
HP:0000496HP:0033980Paroxysmal tonic upgaze1JRK CL E G H8629307ORPHA1646199603210
HP:0000496HP:0025518Visual gaze preference1JRK CL E G H8629307ORPHA1646199603210
HP:0000496HP:0000549Abnormal conjugate eye movement1KCNJ6 CL E G H3763435628ORPHA11016267600877
HP:0000496HP:0000549Abnormal conjugate eye movement1KCNJ6 CL E G H3763435628ORPHA11156267600877
HP:0000496HP:0012547Abnormal involuntary eye movements1KCNJ6 CL E G H3763435628ORPHA11016267600877
HP:0000496HP:0012547Abnormal involuntary eye movements1KCNJ6 CL E G H3763435628ORPHA11156267600877
HP:0000496HP:0500073Abnormal ocular alignment1KCNJ6 CL E G H3763435628ORPHA11016267600877
HP:0000496HP:0500073Abnormal ocular alignment1KCNJ6 CL E G H3763435628ORPHA11156267600877
HP:0000496HP:0000570Abnormal saccadic eye movements1KCNJ6 CL E G H3763435628ORPHA11016267600877
HP:0000496HP:0000570Abnormal saccadic eye movements1KCNJ6 CL E G H3763435628ORPHA11156267600877
HP:0000496HP:0025404Abnormal visual fixation1KCNJ6 CL E G H3763435628ORPHA11016267600877
HP:0000496HP:0025404Abnormal visual fixation1KCNJ6 CL E G H3763435628ORPHA11156267600877
HP:0000496HP:0011347Abnormality of ocular abduction1KCNJ6 CL E G H3763435628ORPHA11016267600877
HP:0000496HP:0011347Abnormality of ocular abduction1KCNJ6 CL E G H3763435628ORPHA11156267600877
HP:0000496HP:0000617Abnormality of ocular smooth pursuit1KCNJ6 CL E G H3763435628ORPHA11016267600877
HP:0000496HP:0000617Abnormality of ocular smooth pursuit1KCNJ6 CL E G H3763435628ORPHA11156267600877
HP:0000496HP:0031705Compensatory head posture1KCNJ6 CL E G H3763435628ORPHA11016267600877
HP:0000496HP:0031705Compensatory head posture1KCNJ6 CL E G H3763435628ORPHA11156267600877
HP:0000496HP:0000542Impaired ocular adduction1KCNJ6 CL E G H3763435628ORPHA11016267600877
HP:0000496HP:0000542Impaired ocular adduction1KCNJ6 CL E G H3763435628ORPHA11156267600877
HP:0000496HP:0007941Limited extraocular movements1KCNJ6 CL E G H3763435628ORPHA11016267600877
HP:0000496HP:0007941Limited extraocular movements1KCNJ6 CL E G H3763435628ORPHA11156267600877
HP:0000496HP:0025186Marcus Gunn jaw winking synkinesis1KCNJ6 CL E G H3763435628ORPHA11016267600877
HP:0000496HP:0025186Marcus Gunn jaw winking synkinesis1KCNJ6 CL E G H3763435628ORPHA11156267600877
HP:0000496HP:0000657Oculomotor apraxia1KCNJ6 CL E G H3763435628ORPHA11016267600877
HP:0000496HP:0000657Oculomotor apraxia1KCNJ6 CL E G H3763435628ORPHA11156267600877
HP:0000496HP:0033851Oculomotor synkinesis1KCNJ6 CL E G H3763435628ORPHA11016267600877
HP:0000496HP:0033851Oculomotor synkinesis1KCNJ6 CL E G H3763435628ORPHA11156267600877
HP:0000496HP:0000597Ophthalmoparesis1KCNJ6 CL E G H3763435628ORPHA11016267600877
HP:0000496HP:0000597Ophthalmoparesis1KCNJ6 CL E G H3763435628ORPHA11156267600877
HP:0000496HP:0033980Paroxysmal tonic upgaze1KCNJ6 CL E G H3763435628ORPHA11016267600877
HP:0000496HP:0033980Paroxysmal tonic upgaze1KCNJ6 CL E G H3763435628ORPHA11156267600877
HP:0000496HP:0025518Visual gaze preference1KCNJ6 CL E G H3763435628ORPHA11016267600877
HP:0000496HP:0025518Visual gaze preference1KCNJ6 CL E G H3763435628ORPHA11156267600877
HP:0000496HP:0000549Abnormal conjugate eye movement1KCNQ3 CL E G H3786307ORPHA18866297602232
HP:0000496HP:0000549Abnormal conjugate eye movement1KCNQ3 CL E G H3786307ORPHA19776297602232
HP:0000496HP:0012547Abnormal involuntary eye movements1KCNQ3 CL E G H3786307ORPHA18866297602232
HP:0000496HP:0012547Abnormal involuntary eye movements1KCNQ3 CL E G H3786307ORPHA19776297602232
HP:0000496HP:0500073Abnormal ocular alignment1KCNQ3 CL E G H3786307ORPHA18866297602232
HP:0000496HP:0500073Abnormal ocular alignment1KCNQ3 CL E G H3786307ORPHA19776297602232
HP:0000496HP:0000570Abnormal saccadic eye movements1KCNQ3 CL E G H3786307ORPHA18866297602232
HP:0000496HP:0000570Abnormal saccadic eye movements1KCNQ3 CL E G H3786307ORPHA19776297602232
HP:0000496HP:0025404Abnormal visual fixation1KCNQ3 CL E G H3786307ORPHA18866297602232
HP:0000496HP:0025404Abnormal visual fixation1KCNQ3 CL E G H3786307ORPHA19776297602232
HP:0000496HP:0011347Abnormality of ocular abduction1KCNQ3 CL E G H3786307ORPHA18866297602232
HP:0000496HP:0011347Abnormality of ocular abduction1KCNQ3 CL E G H3786307ORPHA19776297602232
HP:0000496HP:0000617Abnormality of ocular smooth pursuit1KCNQ3 CL E G H3786307ORPHA18866297602232
HP:0000496HP:0000617Abnormality of ocular smooth pursuit1KCNQ3 CL E G H3786307ORPHA19776297602232
HP:0000496HP:0031705Compensatory head posture1KCNQ3 CL E G H3786307ORPHA18866297602232
HP:0000496HP:0031705Compensatory head posture1KCNQ3 CL E G H3786307ORPHA19776297602232
HP:0000496HP:0000542Impaired ocular adduction1KCNQ3 CL E G H3786307ORPHA18866297602232
HP:0000496HP:0000542Impaired ocular adduction1KCNQ3 CL E G H3786307ORPHA19776297602232
HP:0000496HP:0007941Limited extraocular movements1KCNQ3 CL E G H3786307ORPHA18866297602232
HP:0000496HP:0007941Limited extraocular movements1KCNQ3 CL E G H3786307ORPHA19776297602232
HP:0000496HP:0025186Marcus Gunn jaw winking synkinesis1KCNQ3 CL E G H3786307ORPHA18866297602232
HP:0000496HP:0025186Marcus Gunn jaw winking synkinesis1KCNQ3 CL E G H3786307ORPHA19776297602232
HP:0000496HP:0000657Oculomotor apraxia1KCNQ3 CL E G H3786307ORPHA18866297602232
HP:0000496HP:0000657Oculomotor apraxia1KCNQ3 CL E G H3786307ORPHA19776297602232
HP:0000496HP:0033851Oculomotor synkinesis1KCNQ3 CL E G H3786307ORPHA18866297602232
HP:0000496HP:0033851Oculomotor synkinesis1KCNQ3 CL E G H3786307ORPHA19776297602232
HP:0000496HP:0000597Ophthalmoparesis1KCNQ3 CL E G H3786307ORPHA18866297602232
HP:0000496HP:0000597Ophthalmoparesis1KCNQ3 CL E G H3786307ORPHA19776297602232
HP:0000496HP:0033980Paroxysmal tonic upgaze1KCNQ3 CL E G H3786307ORPHA18866297602232
HP:0000496HP:0033980Paroxysmal tonic upgaze1KCNQ3 CL E G H3786307ORPHA19776297602232
HP:0000496HP:0025518Visual gaze preference1KCNQ3 CL E G H3786307ORPHA18866297602232
HP:0000496HP:0025518Visual gaze preference1KCNQ3 CL E G H3786307ORPHA19776297602232
HP:0000496HP:0000549Abnormal conjugate eye movement1KIAA0586 CL E G H9786616490Joubert syndrome 23616490C4084822OMIM133819960610178
HP:0000496HP:0000549Abnormal conjugate eye movement1KIAA0586 CL E G H9786616490Joubert syndrome 23616490C4084822OMIM166219960610178
HP:0000496HP:0012547Abnormal involuntary eye movements1KIAA0586 CL E G H9786616490Joubert syndrome 23616490C4084822OMIM133819960610178
HP:0000496HP:0012547Abnormal involuntary eye movements1KIAA0586 CL E G H9786616490Joubert syndrome 23616490C4084822OMIM166219960610178
HP:0000496HP:0500073Abnormal ocular alignment1KIAA0586 CL E G H9786616490Joubert syndrome 23616490C4084822OMIM133819960610178
HP:0000496HP:0500073Abnormal ocular alignment1KIAA0586 CL E G H9786616490Joubert syndrome 23616490C4084822OMIM166219960610178
HP:0000496HP:0000570Abnormal saccadic eye movements1KIAA0586 CL E G H9786616490Joubert syndrome 23616490C4084822OMIM133819960610178
HP:0000496HP:0000570Abnormal saccadic eye movements1KIAA0586 CL E G H9786616490Joubert syndrome 23616490C4084822OMIM166219960610178
HP:0000496HP:0025404Abnormal visual fixation1KIAA0586 CL E G H9786616490Joubert syndrome 23616490C4084822OMIM133819960610178
HP:0000496HP:0025404Abnormal visual fixation1KIAA0586 CL E G H9786616490Joubert syndrome 23616490C4084822OMIM166219960610178
HP:0000496HP:0011347Abnormality of ocular abduction1KIAA0586 CL E G H9786616490Joubert syndrome 23616490C4084822OMIM133819960610178
HP:0000496HP:0011347Abnormality of ocular abduction1KIAA0586 CL E G H9786616490Joubert syndrome 23616490C4084822OMIM166219960610178
HP:0000496HP:0000617Abnormality of ocular smooth pursuit1KIAA0586 CL E G H9786616490Joubert syndrome 23616490C4084822OMIM133819960610178
HP:0000496HP:0000617Abnormality of ocular smooth pursuit1KIAA0586 CL E G H9786616490Joubert syndrome 23616490C4084822OMIM166219960610178
HP:0000496HP:0031705Compensatory head posture1KIAA0586 CL E G H9786616490Joubert syndrome 23616490C4084822OMIM133819960610178
HP:0000496HP:0031705Compensatory head posture1KIAA0586 CL E G H9786616490Joubert syndrome 23616490C4084822OMIM166219960610178
HP:0000496HP:0000542Impaired ocular adduction1KIAA0586 CL E G H9786616490Joubert syndrome 23616490C4084822OMIM133819960610178
HP:0000496HP:0000542Impaired ocular adduction1KIAA0586 CL E G H9786616490Joubert syndrome 23616490C4084822OMIM166219960610178
HP:0000496HP:0007941Limited extraocular movements1KIAA0586 CL E G H9786616490Joubert syndrome 23616490C4084822OMIM133819960610178
HP:0000496HP:0007941Limited extraocular movements1KIAA0586 CL E G H9786616490Joubert syndrome 23616490C4084822OMIM166219960610178
HP:0000496HP:0025186Marcus Gunn jaw winking synkinesis1KIAA0586 CL E G H9786616490Joubert syndrome 23616490C4084822OMIM133819960610178
HP:0000496HP:0025186Marcus Gunn jaw winking synkinesis1KIAA0586 CL E G H9786616490Joubert syndrome 23616490C4084822OMIM166219960610178
HP:0000496HP:0000657Oculomotor apraxia1KIAA0586 CL E G H9786616490Joubert syndrome 23616490C4084822OMIM133819960610178
HP:0000496HP:0000657Oculomotor apraxia1KIAA0586 CL E G H9786616490Joubert syndrome 23616490C4084822OMIM166219960610178
HP:0000496HP:0033851Oculomotor synkinesis1KIAA0586 CL E G H9786616490Joubert syndrome 23616490C4084822OMIM133819960610178
HP:0000496HP:0033851Oculomotor synkinesis1KIAA0586 CL E G H9786616490Joubert syndrome 23616490C4084822OMIM166219960610178
HP:0000496HP:0000597Ophthalmoparesis1KIAA0586 CL E G H9786616490Joubert syndrome 23616490C4084822OMIM133819960610178
HP:0000496HP:0000597Ophthalmoparesis1KIAA0586 CL E G H9786616490Joubert syndrome 23616490C4084822OMIM166219960610178
HP:0000496HP:0033980Paroxysmal tonic upgaze1KIAA0586 CL E G H9786616490Joubert syndrome 23616490C4084822OMIM133819960610178
HP:0000496HP:0033980Paroxysmal tonic upgaze1KIAA0586 CL E G H9786616490Joubert syndrome 23616490C4084822OMIM166219960610178
HP:0000496HP:0025518Visual gaze preference1KIAA0586 CL E G H9786616490Joubert syndrome 23616490C4084822OMIM133819960610178
HP:0000496HP:0025518Visual gaze preference1KIAA0586 CL E G H9786616490Joubert syndrome 23616490C4084822OMIM166219960610178
HP:0000496HP:0000549Abnormal conjugate eye movement1KIF1A CL E G H5472836ORPHA11441888601255
HP:0000496HP:0000549Abnormal conjugate eye movement1KIF1A CL E G H5472836ORPHA11735888601255
HP:0000496HP:0012547Abnormal involuntary eye movements1KIF1A CL E G H5472836ORPHA11441888601255
HP:0000496HP:0012547Abnormal involuntary eye movements1KIF1A CL E G H5472836ORPHA11735888601255
HP:0000496HP:0500073Abnormal ocular alignment1KIF1A CL E G H5472836ORPHA11441888601255
HP:0000496HP:0500073Abnormal ocular alignment1KIF1A CL E G H5472836ORPHA11735888601255
HP:0000496HP:0000570Abnormal saccadic eye movements1KIF1A CL E G H5472836ORPHA11441888601255
HP:0000496HP:0000570Abnormal saccadic eye movements1KIF1A CL E G H5472836ORPHA11735888601255
HP:0000496HP:0025404Abnormal visual fixation1KIF1A CL E G H5472836ORPHA11441888601255
HP:0000496HP:0025404Abnormal visual fixation1KIF1A CL E G H5472836ORPHA11735888601255
HP:0000496HP:0011347Abnormality of ocular abduction1KIF1A CL E G H5472836ORPHA11441888601255
HP:0000496HP:0011347Abnormality of ocular abduction1KIF1A CL E G H5472836ORPHA11735888601255
HP:0000496HP:0000617Abnormality of ocular smooth pursuit1KIF1A CL E G H5472836ORPHA11441888601255
HP:0000496HP:0000617Abnormality of ocular smooth pursuit1KIF1A CL E G H5472836ORPHA11735888601255
HP:0000496HP:0031705Compensatory head posture1KIF1A CL E G H5472836ORPHA11441888601255
HP:0000496HP:0031705Compensatory head posture1KIF1A CL E G H5472836ORPHA11735888601255
HP:0000496HP:0000542Impaired ocular adduction1KIF1A CL E G H5472836ORPHA11441888601255
HP:0000496HP:0000542Impaired ocular adduction1KIF1A CL E G H5472836ORPHA11735888601255
HP:0000496HP:0007941Limited extraocular movements1KIF1A CL E G H5472836ORPHA11441888601255
HP:0000496HP:0007941Limited extraocular movements1KIF1A CL E G H5472836ORPHA11735888601255
HP:0000496HP:0025186Marcus Gunn jaw winking synkinesis1KIF1A CL E G H5472836ORPHA11441888601255
HP:0000496HP:0025186Marcus Gunn jaw winking synkinesis1KIF1A CL E G H5472836ORPHA11735888601255
HP:0000496HP:0000657Oculomotor apraxia1KIF1A CL E G H5472836ORPHA11441888601255
HP:0000496HP:0000657Oculomotor apraxia1KIF1A CL E G H5472836ORPHA11735888601255
HP:0000496HP:0033851Oculomotor synkinesis1KIF1A CL E G H5472836ORPHA11441888601255
HP:0000496HP:0033851Oculomotor synkinesis1KIF1A CL E G H5472836ORPHA11735888601255
HP:0000496HP:0000597Ophthalmoparesis1KIF1A CL E G H5472836ORPHA11441888601255
HP:0000496HP:0000597Ophthalmoparesis1KIF1A CL E G H5472836ORPHA11735888601255
HP:0000496HP:0033980Paroxysmal tonic upgaze1KIF1A CL E G H5472836ORPHA11441888601255
HP:0000496HP:0033980Paroxysmal tonic upgaze1KIF1A CL E G H5472836ORPHA11735888601255
HP:0000496HP:0025518Visual gaze preference1KIF1A CL E G H5472836ORPHA11441888601255
HP:0000496HP:0025518Visual gaze preference1KIF1A CL E G H5472836ORPHA11735888601255
HP:0000496HP:0000549Abnormal conjugate eye movement1MASP1 CL E G H5648257920Michels syndrome257920C0796059OMIM12146901600521
HP:0000496HP:0000549Abnormal conjugate eye movement1MASP1 CL E G H5648257920Michels syndrome257920C0796059OMIM12206901600521
HP:0000496HP:0012547Abnormal involuntary eye movements1MASP1 CL E G H5648257920Michels syndrome257920C0796059OMIM12146901600521
HP:0000496HP:0012547Abnormal involuntary eye movements1MASP1 CL E G H5648257920Michels syndrome257920C0796059OMIM12206901600521
HP:0000496HP:0500073Abnormal ocular alignment1MASP1 CL E G H5648257920Michels syndrome257920C0796059OMIM12146901600521
HP:0000496HP:0500073Abnormal ocular alignment1MASP1 CL E G H5648257920Michels syndrome257920C0796059OMIM12206901600521
HP:0000496HP:0000570Abnormal saccadic eye movements1MASP1 CL E G H5648257920Michels syndrome257920C0796059OMIM12146901600521
HP:0000496HP:0000570Abnormal saccadic eye movements1MASP1 CL E G H5648257920Michels syndrome257920C0796059OMIM12206901600521
HP:0000496HP:0025404Abnormal visual fixation1MASP1 CL E G H5648257920Michels syndrome257920C0796059OMIM12146901600521
HP:0000496HP:0025404Abnormal visual fixation1MASP1 CL E G H5648257920Michels syndrome257920C0796059OMIM12206901600521
HP:0000496HP:0011347Abnormality of ocular abduction1MASP1 CL E G H5648257920Michels syndrome257920C0796059OMIM12146901600521
HP:0000496HP:0011347Abnormality of ocular abduction1MASP1 CL E G H5648257920Michels syndrome257920C0796059OMIM12206901600521
HP:0000496HP:0000617Abnormality of ocular smooth pursuit1MASP1 CL E G H5648257920Michels syndrome257920C0796059OMIM12146901600521
HP:0000496HP:0000617Abnormality of ocular smooth pursuit1MASP1 CL E G H5648257920Michels syndrome257920C0796059OMIM12206901600521
HP:0000496HP:0031705Compensatory head posture1MASP1 CL E G H5648257920Michels syndrome257920C0796059OMIM12146901600521
HP:0000496HP:0031705Compensatory head posture1MASP1 CL E G H5648257920Michels syndrome257920C0796059OMIM12206901600521
HP:0000496HP:0000542Impaired ocular adduction1MASP1 CL E G H5648257920Michels syndrome257920C0796059OMIM12146901600521
HP:0000496HP:0000542Impaired ocular adduction1MASP1 CL E G H5648257920Michels syndrome257920C0796059OMIM12206901600521
HP:0000496HP:0007941Limited extraocular movements1MASP1 CL E G H5648257920Michels syndrome257920C0796059OMIM12146901600521
HP:0000496HP:0007941Limited extraocular movements1MASP1 CL E G H5648257920Michels syndrome257920C0796059OMIM12206901600521
HP:0000496HP:0025186Marcus Gunn jaw winking synkinesis1MASP1 CL E G H5648257920Michels syndrome257920C0796059OMIM12146901600521
HP:0000496HP:0025186Marcus Gunn jaw winking synkinesis1MASP1 CL E G H5648257920Michels syndrome257920C0796059OMIM12206901600521
HP:0000496HP:0000657Oculomotor apraxia1MASP1 CL E G H5648257920Michels syndrome257920C0796059OMIM12146901600521
HP:0000496HP:0000657Oculomotor apraxia1MASP1 CL E G H5648257920Michels syndrome257920C0796059OMIM12206901600521
HP:0000496HP:0033851Oculomotor synkinesis1MASP1 CL E G H5648257920Michels syndrome257920C0796059OMIM12146901600521
HP:0000496HP:0033851Oculomotor synkinesis1MASP1 CL E G H5648257920Michels syndrome257920C0796059OMIM12206901600521
HP:0000496HP:0000597Ophthalmoparesis1MASP1 CL E G H5648257920Michels syndrome257920C0796059OMIM12146901600521
HP:0000496HP:0000597Ophthalmoparesis1MASP1 CL E G H5648257920Michels syndrome257920C0796059OMIM12206901600521
HP:0000496HP:0033980Paroxysmal tonic upgaze1MASP1 CL E G H5648257920Michels syndrome257920C0796059OMIM12146901600521
HP:0000496HP:0033980Paroxysmal tonic upgaze1MASP1 CL E G H5648257920Michels syndrome257920C0796059OMIM12206901600521
HP:0000496HP:0025518Visual gaze preference1MASP1 CL E G H5648257920Michels syndrome257920C0796059OMIM12146901600521
HP:0000496HP:0025518Visual gaze preference1MASP1 CL E G H5648257920Michels syndrome257920C0796059OMIM12206901600521
HP:0000496HP:0000549Abnormal conjugate eye movement1NDUFA13 CL E G H51079618249MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 28618249OMIM11817194609435
HP:0000496HP:0000549Abnormal conjugate eye movement1NDUFA13 CL E G H51079618249MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 28618249OMIM11917194609435
HP:0000496HP:0012547Abnormal involuntary eye movements1NDUFA13 CL E G H51079618249MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 28618249OMIM11817194609435
HP:0000496HP:0012547Abnormal involuntary eye movements1NDUFA13 CL E G H51079618249MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 28618249OMIM11917194609435
HP:0000496HP:0500073Abnormal ocular alignment1NDUFA13 CL E G H51079618249MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 28618249OMIM11817194609435
HP:0000496HP:0500073Abnormal ocular alignment1NDUFA13 CL E G H51079618249MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 28618249OMIM11917194609435
HP:0000496HP:0000570Abnormal saccadic eye movements1NDUFA13 CL E G H51079618249MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 28618249OMIM11817194609435
HP:0000496HP:0000570Abnormal saccadic eye movements1NDUFA13 CL E G H51079618249MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 28618249OMIM11917194609435
HP:0000496HP:0025404Abnormal visual fixation1NDUFA13 CL E G H51079618249MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 28618249OMIM11817194609435
HP:0000496HP:0025404Abnormal visual fixation1NDUFA13 CL E G H51079618249MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 28618249OMIM11917194609435
HP:0000496HP:0011347Abnormality of ocular abduction1NDUFA13 CL E G H51079618249MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 28618249OMIM11817194609435
HP:0000496HP:0011347Abnormality of ocular abduction1NDUFA13 CL E G H51079618249MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 28618249OMIM11917194609435
HP:0000496HP:0000617Abnormality of ocular smooth pursuit1NDUFA13 CL E G H51079618249MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 28618249OMIM11817194609435
HP:0000496HP:0000617Abnormality of ocular smooth pursuit1NDUFA13 CL E G H51079618249MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 28618249OMIM11917194609435
HP:0000496HP:0031705Compensatory head posture1NDUFA13 CL E G H51079618249MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 28618249OMIM11817194609435
HP:0000496HP:0031705Compensatory head posture1NDUFA13 CL E G H51079618249MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 28618249OMIM11917194609435
HP:0000496HP:0000542Impaired ocular adduction1NDUFA13 CL E G H51079618249MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 28618249OMIM11817194609435
HP:0000496HP:0000542Impaired ocular adduction1NDUFA13 CL E G H51079618249MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 28618249OMIM11917194609435
HP:0000496HP:0007941Limited extraocular movements1NDUFA13 CL E G H51079618249MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 28618249OMIM11817194609435
HP:0000496HP:0007941Limited extraocular movements1NDUFA13 CL E G H51079618249MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 28618249OMIM11917194609435
HP:0000496HP:0025186Marcus Gunn jaw winking synkinesis1NDUFA13 CL E G H51079618249MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 28618249OMIM11817194609435
HP:0000496HP:0025186Marcus Gunn jaw winking synkinesis1NDUFA13 CL E G H51079618249MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 28618249OMIM11917194609435
HP:0000496HP:0000657Oculomotor apraxia1NDUFA13 CL E G H51079618249MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 28618249OMIM11817194609435
HP:0000496HP:0000657Oculomotor apraxia1NDUFA13 CL E G H51079618249MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 28618249OMIM11917194609435
HP:0000496HP:0033851Oculomotor synkinesis1NDUFA13 CL E G H51079618249MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 28618249OMIM11817194609435
HP:0000496HP:0033851Oculomotor synkinesis1NDUFA13 CL E G H51079618249MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 28618249OMIM11917194609435
HP:0000496HP:0000597Ophthalmoparesis1NDUFA13 CL E G H51079618249MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 28618249OMIM11817194609435
HP:0000496HP:0000597Ophthalmoparesis1NDUFA13 CL E G H51079618249MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 28618249OMIM11917194609435
HP:0000496HP:0033980Paroxysmal tonic upgaze1NDUFA13 CL E G H51079618249MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 28618249OMIM11817194609435
HP:0000496HP:0033980Paroxysmal tonic upgaze1NDUFA13 CL E G H51079618249MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 28618249OMIM11917194609435
HP:0000496HP:0025518Visual gaze preference1NDUFA13 CL E G H51079618249MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 28618249OMIM11817194609435
HP:0000496HP:0025518Visual gaze preference1NDUFA13 CL E G H51079618249MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 28618249OMIM11917194609435
HP:0000496HP:0000549Abnormal conjugate eye movement1PDHA1 CL E G H5160312170Pyruvate dehydrogenase E1-alpha deficiency312170C1839413OMIM15308806300502
HP:0000496HP:0000549Abnormal conjugate eye movement1PDHA1 CL E G H5160312170Pyruvate dehydrogenase E1-alpha deficiency312170C1839413OMIM15388806300502
HP:0000496HP:0012547Abnormal involuntary eye movements1PDHA1 CL E G H5160312170Pyruvate dehydrogenase E1-alpha deficiency312170C1839413OMIM15308806300502
HP:0000496HP:0012547Abnormal involuntary eye movements1PDHA1 CL E G H5160312170Pyruvate dehydrogenase E1-alpha deficiency312170C1839413OMIM15388806300502
HP:0000496HP:0500073Abnormal ocular alignment1PDHA1 CL E G H5160312170Pyruvate dehydrogenase E1-alpha deficiency312170C1839413OMIM15308806300502
HP:0000496HP:0500073Abnormal ocular alignment1PDHA1 CL E G H5160312170Pyruvate dehydrogenase E1-alpha deficiency312170C1839413OMIM15388806300502
HP:0000496HP:0000570Abnormal saccadic eye movements1PDHA1 CL E G H5160312170Pyruvate dehydrogenase E1-alpha deficiency312170C1839413OMIM15308806300502
HP:0000496HP:0000570Abnormal saccadic eye movements1PDHA1 CL E G H5160312170Pyruvate dehydrogenase E1-alpha deficiency312170C1839413OMIM15388806300502
HP:0000496HP:0025404Abnormal visual fixation1PDHA1 CL E G H5160312170Pyruvate dehydrogenase E1-alpha deficiency312170C1839413OMIM15308806300502
HP:0000496HP:0025404Abnormal visual fixation1PDHA1 CL E G H5160312170Pyruvate dehydrogenase E1-alpha deficiency312170C1839413OMIM15388806300502
HP:0000496HP:0011347Abnormality of ocular abduction1PDHA1 CL E G H5160312170Pyruvate dehydrogenase E1-alpha deficiency312170C1839413OMIM15308806300502
HP:0000496HP:0011347Abnormality of ocular abduction1PDHA1 CL E G H5160312170Pyruvate dehydrogenase E1-alpha deficiency312170C1839413OMIM15388806300502
HP:0000496HP:0000617Abnormality of ocular smooth pursuit1PDHA1 CL E G H5160312170Pyruvate dehydrogenase E1-alpha deficiency312170C1839413OMIM15308806300502
HP:0000496HP:0000617Abnormality of ocular smooth pursuit1PDHA1 CL E G H5160312170Pyruvate dehydrogenase E1-alpha deficiency312170C1839413OMIM15388806300502
HP:0000496HP:0031705Compensatory head posture1PDHA1 CL E G H5160312170Pyruvate dehydrogenase E1-alpha deficiency312170C1839413OMIM15308806300502
HP:0000496HP:0031705Compensatory head posture1PDHA1 CL E G H5160312170Pyruvate dehydrogenase E1-alpha deficiency312170C1839413OMIM15388806300502
HP:0000496HP:0000542Impaired ocular adduction1PDHA1 CL E G H5160312170Pyruvate dehydrogenase E1-alpha deficiency312170C1839413OMIM15308806300502
HP:0000496HP:0000542Impaired ocular adduction1PDHA1 CL E G H5160312170Pyruvate dehydrogenase E1-alpha deficiency312170C1839413OMIM15388806300502
HP:0000496HP:0007941Limited extraocular movements1PDHA1 CL E G H5160312170Pyruvate dehydrogenase E1-alpha deficiency312170C1839413OMIM15308806300502
HP:0000496HP:0007941Limited extraocular movements1PDHA1 CL E G H5160312170Pyruvate dehydrogenase E1-alpha deficiency312170C1839413OMIM15388806300502
HP:0000496HP:0025186Marcus Gunn jaw winking synkinesis1PDHA1