Human Phenotype Ontology 
Grandparent Node:
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Abnormality of central motor function (HP:0011442)help
Grandparent Node:
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Abnormality of higher mental function (HP:0011446)help
Parent Node:
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Abnormality of eye movement (HP:0000496)help
Parent Node:
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Apraxia (HP:0002186)help
..Starting node
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Oculomotor apraxia (HP:0000657)help
Term ID: 657
Name: Oculomotor apraxia
Synonym: Defective or absent horizontal voluntary eye movements; Ocular motor apraxia
Definition: Ocular motor apraxia is a deficiency in voluntary, horizontal, lateral, fast eye movements (saccades) with retention of slow pursuit movements. The inability to follow objects visually is often compensated by head movements. There may be decreased smooth pursuit, and cancellation of the vestibulo-ocular reflex.
Comments:
Reference: HP:0000657
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandEyelid apraxia (HP:0000658) help
..expandGait apraxia (HP:0010521) help
..expandLimb apraxia (HP:0030217) help
..expandOromotor apraxia (HP:0007301) help
..expandSpeech apraxia (HP:0011098) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0000657HP:0000657Oculomotor apraxia0AFG3L2 CL E G H10939313772ORPHA140315604581
HP:0000657HP:0000657Oculomotor apraxia0AFG3L2 CL E G H10939614487Spastic ataxia 5, autosomal recessive614487C3280977OMIM140315604581
HP:0000657HP:0000657Oculomotor apraxia0AHI1 CL E G H54806220493ORPHA19621575608894
HP:0000657HP:0000657Oculomotor apraxia0AHI1 CL E G H54806475Acquired hypoprothrombinemiaORPHA19621575608894
HP:0000657HP:0000657Oculomotor apraxia0AHI1 CL E G H54806608629Joubert syndrome 3608629C1837713OMIM19621575608894
HP:0000657HP:0000657Oculomotor apraxia0APTX CL E G H54840208920Ataxia-oculomotor apraxia type 1208920C1859598OMIM14615984606350
HP:0000657HP:0000657Oculomotor apraxia0ARL13B CL E G H200894475Acquired hypoprothrombinemiaORPHA11025419608922
HP:0000657HP:0000657Oculomotor apraxia0ARL13B CL E G H200894612291Joubert syndrome 8612291C2676771OMIM11025419608922
HP:0000657HP:0000657Oculomotor apraxia0ARL3 CL E G H403475Acquired hypoprothrombinemiaORPHA13694604695
HP:0000657HP:0000657Oculomotor apraxia0ARL3 CL E G H403618161JOUBERT SYNDROME 35618161OMIM13694604695
HP:0000657HP:0000657Oculomotor apraxia0ARMC9 CL E G H80210475Acquired hypoprothrombinemiaORPHA11120730617612
HP:0000657HP:0000657Oculomotor apraxia0ATXN2 CL E G H6311183090Spinocerebellar ataxia 2183090C0752121OMIM14410555601517
HP:0000657HP:0000657Oculomotor apraxia0B9D1 CL E G H27077475Acquired hypoprothrombinemiaORPHA11024123614144
HP:0000657HP:0000657Oculomotor apraxia0B9D1 CL E G H27077617120Joubert syndrome 27617120C4310706OMIM11024123614144
HP:0000657HP:0000657Oculomotor apraxia0BRAF CL E G H673115150Cardiofaciocutaneous syndrome 1115150CN029449OMIM1681097164757
HP:0000657HP:0000657Oculomotor apraxia0CACNA1G CL E G H8913618087SPINOCEREBELLAR ATAXIA 42, EARLY-ONSET, SEVERE, WITH NEURODEVELOPMENTAL DEFICITS618087CN252698OMIM1121394604065
HP:0000657HP:0000657Oculomotor apraxia0CC2D2A CL E G H57545216360COACH syndrome216360C1857662OMIM19629253612013
HP:0000657HP:0000657Oculomotor apraxia0CC2D2A CL E G H575451454Common atrioventricular canalC0221215ORPHA19629253612013
HP:0000657HP:0000657Oculomotor apraxia0CEP104 CL E G H9731475Acquired hypoprothrombinemiaORPHA1724866616690
HP:0000657HP:0000657Oculomotor apraxia0CEP120 CL E G H153241220493ORPHA1926690613446
HP:0000657HP:0000657Oculomotor apraxia0CEP120 CL E G H153241475Acquired hypoprothrombinemiaORPHA1926690613446
HP:0000657HP:0000657Oculomotor apraxia0CEP120 CL E G H153241617761JOUBERT SYNDROME 31617761C4540355OMIM1926690613446
HP:0000657HP:0000657Oculomotor apraxia0CEP290 CL E G H80184610188Joubert syndrome 5610188C1857780OMIM131029021610142
HP:0000657HP:0000657Oculomotor apraxia0CEP41 CL E G H95681220493ORPHA11112370610523
HP:0000657HP:0000657Oculomotor apraxia0CEP41 CL E G H95681475Acquired hypoprothrombinemiaORPHA11112370610523
HP:0000657HP:0000657Oculomotor apraxia0CEP41 CL E G H95681614464Joubert syndrome 15614464C3280897OMIM11112370610523
HP:0000657HP:0000657Oculomotor apraxia0CPLANE1 CL E G H65250475Acquired hypoprothrombinemiaORPHA111825801614571
HP:0000657HP:0000657Oculomotor apraxia0CPLANE1 CL E G H65250614615Joubert syndrome 17614615C3553264OMIM111825801614571
HP:0000657HP:0000657Oculomotor apraxia0CSPP1 CL E G H79848397715ORPHA12726193611654
HP:0000657HP:0000657Oculomotor apraxia0CSPP1 CL E G H79848475Acquired hypoprothrombinemiaORPHA12726193611654
HP:0000657HP:0000657Oculomotor apraxia0CSPP1 CL E G H79848615636Joubert syndrome 21615636C3810212OMIM12726193611654
HP:0000657HP:0000657Oculomotor apraxia0CWF19L1 CL E G H55280453521ORPHA1525613616120
HP:0000657HP:0000657Oculomotor apraxia0DLAT CL E G H1737245348Pyruvate dehydrogenase E2 deficiency245348C1855565OMIM152896608770
HP:0000657HP:0000657Oculomotor apraxia0DNM1L CL E G H10059614388Encephalopathy due to defective mitochondrial and peroxisomal fission 1614388C3280660OMIM1202973603850
HP:0000657HP:0000657Oculomotor apraxia0EXOSC3 CL E G H51010614678Pontocerebellar hypoplasia, type 1b614678C3553449OMIM11917944606489
HP:0000657HP:0000657Oculomotor apraxia0FA2H CL E G H79152171629ORPHA15421197611026
HP:0000657HP:0000657Oculomotor apraxia0GBA CL E G H2629230900Acute neuronopathic Gaucher's disease230900C0268250OMIM14944177606463
HP:0000657HP:0000657Oculomotor apraxia0GRID2 CL E G H2895616204Spinocerebellar ataxia, autosomal recessive 18616204C4015505OMIM1214576602368
HP:0000657HP:0000657Oculomotor apraxia0HYLS1 CL E G H219844475Acquired hypoprothrombinemiaORPHA1226558610693
HP:0000657HP:0000657Oculomotor apraxia0INPP5E CL E G H56623220493ORPHA15421474613037
HP:0000657HP:0000657Oculomotor apraxia0INPP5E CL E G H56623475Acquired hypoprothrombinemiaORPHA15421474613037
HP:0000657HP:0000657Oculomotor apraxia0INPP5E CL E G H566231454Common atrioventricular canalC0221215ORPHA15421474613037
HP:0000657HP:0000657Oculomotor apraxia0INPP5E CL E G H56623213300Joubert syndrome 1213300CN119531OMIM15421474613037
HP:0000657HP:0000657Oculomotor apraxia0ITPR1 CL E G H3708208513ORPHA1956180147265
HP:0000657HP:0000657Oculomotor apraxia0KIAA0556 CL E G H23247475Acquired hypoprothrombinemiaORPHA1229068616650
HP:0000657HP:0000657Oculomotor apraxia0KIAA0586 CL E G H9786397715ORPHA13119960610178
HP:0000657HP:0000657Oculomotor apraxia0KIAA0586 CL E G H9786475Acquired hypoprothrombinemiaORPHA13119960610178
HP:0000657HP:0000657Oculomotor apraxia0KIAA1109 CL E G H84162617822ALKURAYA-KUCINSKAS SYNDROME617822CN737163OMIM11626953611565
HP:0000657HP:0000657Oculomotor apraxia0LAMA1 CL E G H284217615960Poretti-Boltshauser syndrome615960C4014821OMIM1436481150320
HP:0000657HP:0000657Oculomotor apraxia0MKS1 CL E G H54903220493ORPHA1527121609883
HP:0000657HP:0000657Oculomotor apraxia0MKS1 CL E G H54903475Acquired hypoprothrombinemiaORPHA1527121609883
HP:0000657HP:0000657Oculomotor apraxia0MKS1 CL E G H54903617121Joubert syndrome 28617121C4310705OMIM1527121609883
HP:0000657HP:0000657Oculomotor apraxia0MRE11 CL E G H4361251347ORPHA1577230600814
HP:0000657HP:0000657Oculomotor apraxia0MRE11 CL E G H4361604391Ataxia-telangiectasia-like disorder 1604391C1858391OMIM1577230600814
HP:0000657HP:0000657Oculomotor apraxia0MYO9A CL E G H4649618198MYASTHENIC SYNDROME, CONGENITAL, 24, PRESYNAPTIC618198OMIM167608604875
HP:0000657HP:0000657Oculomotor apraxia0NPHP1 CL E G H4867220497ORPHA1797905607100
HP:0000657HP:0000657Oculomotor apraxia0NPHP1 CL E G H4867609583Joubert syndrome 4609583C1846790OMIM1797905607100
HP:0000657HP:0000657Oculomotor apraxia0PEX2 CL E G H5828614867Peroxisome biogenesis disorder 5B614867C3542026OMIM1189717170993
HP:0000657HP:0000657Oculomotor apraxia0PIBF1 CL E G H10464475Acquired hypoprothrombinemiaORPHA1823352607532
HP:0000657HP:0000657Oculomotor apraxia0PIK3R5 CL E G H2353364753ORPHA1230035611317
HP:0000657HP:0000657Oculomotor apraxia0PIK3R5 CL E G H23533615217Ataxia-oculomotor apraxia 3615217C3554690OMIM1230035611317
HP:0000657HP:0000657Oculomotor apraxia0PNKP CL E G H11284616267Ataxia-oculomotor apraxia 4616267C4225397OMIM1249154605610
HP:0000657HP:0000657Oculomotor apraxia0RORA CL E G H6095618060INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT EPILEPSY OR CEREBELLAR ATAXIA618060CN252646OMIM11510258600825
HP:0000657HP:0000657Oculomotor apraxia0RPGRIP1L CL E G H23322220497ORPHA15129168610937
HP:0000657HP:0000657Oculomotor apraxia0RPGRIP1L CL E G H23322216360COACH syndrome216360C1857662OMIM15129168610937
HP:0000657HP:0000657Oculomotor apraxia0RPGRIP1L CL E G H233221454Common atrioventricular canalC0221215ORPHA15129168610937
HP:0000657HP:0000657Oculomotor apraxia0RPGRIP1L CL E G H23322611560Joubert syndrome 7611560C1969053OMIM15129168610937
HP:0000657HP:0000657Oculomotor apraxia0SETX CL E G H2306464753ORPHA1216445608465
HP:0000657HP:0000657Oculomotor apraxia0SLC30A9 CL E G H10463617595Birk-Landau-Perez syndrome617595C4539828OMIM121329604604
HP:0000657HP:0000657Oculomotor apraxia0SPR CL E G H6697612716Sepiapterin reductase deficiency612716C0268468OMIM12511257182125
HP:0000657HP:0000657Oculomotor apraxia0SQSTM1 CL E G H8878617145Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset617145C4310693OMIM19811280601530
HP:0000657HP:0000657Oculomotor apraxia0SUFU CL E G H51684617757JOUBERT SYNDROME 32617757C4540342OMIM14716466607035
HP:0000657HP:0000657Oculomotor apraxia0TCTN1 CL E G H79600475Acquired hypoprothrombinemiaORPHA1626113609863
HP:0000657HP:0000657Oculomotor apraxia0TCTN2 CL E G H79867475Acquired hypoprothrombinemiaORPHA11525774613846
HP:0000657HP:0000657Oculomotor apraxia0TMEM107 CL E G H84314617562Meckel syndrome 13617562C4539714OMIM1328128616183
HP:0000657HP:0000657Oculomotor apraxia0TMEM107 CL E G H84314617563OROFACIODIGITAL SYNDROME XVI617563C4539729OMIM1328128616183
HP:0000657HP:0000657Oculomotor apraxia0TMEM138 CL E G H51524614465Joubert syndrome 16614465C3280906OMIM1926944614459
HP:0000657HP:0000657Oculomotor apraxia0TMEM216 CL E G H51259608091Joubert syndrome 2608091C1842577OMIM1825018613277
HP:0000657HP:0000657Oculomotor apraxia0TMEM231 CL E G H795832752ORPHA11937234614949
HP:0000657HP:0000657Oculomotor apraxia0TMEM231 CL E G H79583614970Joubert syndrome 20614970C3554235OMIM11937234614949
HP:0000657HP:0000657Oculomotor apraxia0TMEM237 CL E G H65062220497ORPHA11114432614423
HP:0000657HP:0000657Oculomotor apraxia0TMEM237 CL E G H65062475Acquired hypoprothrombinemiaORPHA11114432614423
HP:0000657HP:0000657Oculomotor apraxia0TMEM67 CL E G H91147475Acquired hypoprothrombinemiaORPHA117428396609884
HP:0000657HP:0000657Oculomotor apraxia0TMEM67 CL E G H91147216360COACH syndrome216360C1857662OMIM117428396609884
HP:0000657HP:0000657Oculomotor apraxia0TMEM67 CL E G H911471454Common atrioventricular canalC0221215ORPHA117428396609884
HP:0000657HP:0000657Oculomotor apraxia0TMEM67 CL E G H91147610688Joubert syndrome 6610688C1853153OMIM117428396609884
HP:0000657HP:0000657Oculomotor apraxia0TOE1 CL E G H114034614969Pontocerebellar hypoplasia, type 7614969C3554226OMIM11215954613931
HP:0000657HP:0000657Oculomotor apraxia0TPP1 CL E G H1200284324ORPHA11152073607998
HP:0000657HP:0000657Oculomotor apraxia0TREM2 CL E G H542092770ORPHA15617761605086
HP:0000657HP:0000657Oculomotor apraxia0TYROBP CL E G H73052770ORPHA11412449604142
HP:0000657HP:0000657Oculomotor apraxia0UFC1 CL E G H51506618076NEURODEVELOPMENTAL DISORDER WITH SPASTICITY AND POOR GROWTH618076CN252685OMIM1226941610554
HP:0000657HP:0000657Oculomotor apraxia0XRCC1 CL E G H7515617633SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 26617633C4539948OMIM11112828194360
HP:0000657HP:0000657Oculomotor apraxia0ZC4H2 CL E G H559063454ORPHA11724931300897
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000657HP:0000657Oculomotor apraxia0ABCA7 CL E G H103471020ORPHA014337605414
HP:0000657HP:0000657Oculomotor apraxia0APP CL E G H3511020ORPHA0107620104760
HP:0000657HP:0000657Oculomotor apraxia0BCR CL E G H613261330ORPHA021014151410
HP:0000657HP:0000657Oculomotor apraxia0CEP104 CL E G H9731616781Joubert syndrome 25616781C4084842OMIM0724866616690
HP:0000657HP:0000657Oculomotor apraxia0CRKL CL E G H1399261330ORPHA0162363602007
HP:0000657HP:0000657Oculomotor apraxia0IFT172 CL E G H26160615630Short-rib thoracic dysplasia 10 with or without polydactyly615630C3810175OMIM02730391607386
HP:0000657HP:0000657Oculomotor apraxia0KDM1A CL E G H23028616728Cleft palate, psychomotor retardation, and distinctive facial features616728C4225229OMIM01729079609132
HP:0000657HP:0000657Oculomotor apraxia0MAPK1 CL E G H5594261330ORPHA036871176948
HP:0000657HP:0000657Oculomotor apraxia0PSEN1 CL E G H56631020ORPHA03209508104311
HP:0000657HP:0000657Oculomotor apraxia0PSEN2 CL E G H56641020ORPHA0689509600759
HP:0000657HP:0000657Oculomotor apraxia0SETX CL E G H23064606002Spinocerebellar ataxia autosomal recessive 1606002C1853761OMIM0216445608465
HP:0000657HP:0000657Oculomotor apraxia0SORL1 CL E G H66531020ORPHA013611185602005
HP:0000657HP:0000657Oculomotor apraxia0STUB1 CL E G H10273412057ORPHA03111427607207
HP:0000657HP:0000657Oculomotor apraxia0TOMM40 CL E G H104521020ORPHA0318001608061
HP:0000657HP:0000657Oculomotor apraxia0TREM2 CL E G H542091020ORPHA05617761605086
HP:0000657HP:0000657Oculomotor apraxia0TUBB3 CL E G H10381300570ORPHA02620772602661
HP:0000657HP:0000657Oculomotor apraxia0ZC4H2 CL E G H55906314580Wieacker Wolff syndrome314580C0796200OMIM01724931300897


Genes (74) :ABCA7 AFG3L2 AHI1 APP APTX ARL13B ARL3 ARMC9 ATXN2 B9D1 BCR BRAF CACNA1G CC2D2A CEP104 CEP120 CEP290 CEP41 CPLANE1 CRKL CSPP1 CWF19L1 DLAT DNM1L EXOSC3 FA2H GBA GRID2 HYLS1 IFT172 INPP5E ITPR1 KDM1A KIAA0556 KIAA0586 KIAA1109 LAMA1 MAPK1 MKS1 MRE11 MYO9A NPHP1 PEX2 PIBF1 PIK3R5 PNKP PSEN1 PSEN2 RORA RPGRIP1L SETX SLC30A9 SORL1 SPR SQSTM1 STUB1 SUFU TCTN1 TCTN2 TMEM107 TMEM138 TMEM216 TMEM231 TMEM237 TMEM67 TOE1 TOMM40 TPP1 TREM2 TUBB3 TYROBP UFC1 XRCC1 ZC4H2

Diseases (69) :1020 313772 614487 220493 475 608629 208920 612291 618161 183090 617120 261330 115150 618087 216360 1454 616781 617761 610188 614464 614615 397715 615636 453521 245348 614388 614678 171629 230900 616204 615630 213300 208513 616728 617822 615960 617121 251347 604391 618198 220497 609583 614867 64753 615217 616267 618060 611560 606002 617595 612716 617145 412057 617757 617562 617563 614465 608091 2752 614970 610688 614969 284324 2770 300570 618076 617633 3454 314580
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is June 2019 release.