Human Phenotype Ontology 
Grandparent Node:
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Abnormal eye physiology (HP:0012373)help
Parent Node:
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Abnormality of eye movement (HP:0000496)help
..Starting node
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Abnormal visual fixation (HP:0025404)help
Term ID: 25404
Name: Abnormal visual fixation
Synonym:
Definition: Any anomaly in the process of ocular fixation, which is the maintaining of the visual gaze on a single location.
Comments:
Reference: HP:0025404
Genes and Diseases:
 
       Child Nodes:
........expandVisual fixation instability (HP:0025405) help
........expandEccentric visual fixation (HP:0025549) help
................... HP:0031768 Parafoveal fixation
................... HP:0031769 Peripheral fixation
................... HP:0500072 Absolute eccentric fixation

 Sister Nodes: 
..expandAbnormal conjugate eye movement (HP:0000549) help
..expandAbnormal involuntary eye movements (HP:0012547) help
..expandAbnormal ocular alignment (HP:0500073) help
..expandAbnormal saccadic eye movements (HP:0000570) help
..expandAbnormality of ocular abduction (HP:0011347) help
..expandAbnormality of ocular smooth pursuit (HP:0000617) help
..expandCompensatory head posture (HP:0031705) help
..expandImpaired ocular adduction (HP:0000542) help
..expandLimited extraocular movements (HP:0007941) help
..expandMarcus Gunn jaw winking synkinesis (HP:0025186) help
..expandOculomotor apraxia (HP:0000657) help
..expandOphthalmoparesis (HP:0000597) help
..expandVisual gaze preference (HP:0025518) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0025404HP:0025404Abnormal visual fixation0ASAH1 CL E G H427735ORPHA:333Farber disease78
HP:0025404HP:0025404Abnormal visual fixation0ASPA CL E G H443756ORPHA:314911Severe Canavan disease48
HP:0025404HP:0025404Abnormal visual fixation0ATF6 CL E G H22926791ORPHA:49382Achromatopsia10
HP:0025404HP:0025404Abnormal visual fixation0CLCN3 CL E G H11822021OMIM:619517NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ABNORMALITIES; NEDSBA2
HP:0025404HP:0025404Abnormal visual fixation0CLP1 CL E G H1097816999ORPHA:411493Pontocerebellar hypoplasia type 107
HP:0025404HP:0025404Abnormal visual fixation0CNGA3 CL E G H12612150ORPHA:49382Achromatopsia82
HP:0025404HP:0025404Abnormal visual fixation0CNGB3 CL E G H547142153ORPHA:49382Achromatopsia194
HP:0025404HP:0025404Abnormal visual fixation0DPM1 CL E G H88133005ORPHA:79322DPM1-CDGHP:0040283 - Occasional27
HP:0025404HP:0025404Abnormal visual fixation0GBA1 CL E G H26294177ORPHA:2072Gaucher disease-ophthalmoplegia-cardiovascular calcification syndromeHP:0040284 - Very rare
HP:0025404HP:0025404Abnormal visual fixation0GNAT2 CL E G H27804394ORPHA:49382Achromatopsia19
HP:0025404HP:0025404Abnormal visual fixation0ITPR1 CL E G H37086180ORPHA:208513Spinocerebellar ataxia type 29177
HP:0025404HP:0025404Abnormal visual fixation0OFD1 CL E G H84812567OMIM:300424Retinitis pigmentosa 23201
HP:0025404HP:0025404Abnormal visual fixation0PDE6C CL E G H51468787ORPHA:49382Achromatopsia80
HP:0025404HP:0025404Abnormal visual fixation0PDE6H CL E G H51498790ORPHA:49382Achromatopsia14
HP:0025404HP:0025404Abnormal visual fixation0PET100 CL E G H10013180140038OMIM:619055MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 12; MC4DN126
HP:0025404HP:0025404Abnormal visual fixation0PIGB CL E G H94888959OMIM:618580DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 80; DEE80
HP:0025404HP:0025404Abnormal visual fixation0PTPN23 CL E G H2593014406OMIM:618890NEURODEVELOPMENTAL DISORDER AND STRUCTURAL BRAIN ANOMALIES WITH OR WITHOUT SEIZURES AND SPASTICITY; NEDBASS3
HP:0025404HP:0025404Abnormal visual fixation0RANBP2 CL E G H59039848ORPHA:88619Familial acute necrotizing encephalopathyHP:0040282 - Frequent57
HP:0025404HP:0025404Abnormal visual fixation0RNF13 CL E G H1134210057ORPHA:544503RNF13-related severe early-onset epileptic encephalopathy
HP:0025404HP:0025404Abnormal visual fixation0RPGR CL E G H610310295ORPHA:49382Achromatopsia200
HP:0025404HP:0025404Abnormal visual fixation0SLC39A8 CL E G H6411620862ORPHA:468699SLC39A8-CDG11
HP:0025404HP:0025404Abnormal visual fixation0VPS13D CL E G H5518723595ORPHA:95434Autosomal recessive cerebellar ataxia-movement disorder syndromeHP:0040281 - Very frequent
HP:0025404HP:0025404Abnormal visual fixation0VPS41 CL E G H2707212713ORPHA:95434Autosomal recessive cerebellar ataxia-movement disorder syndromeHP:0040281 - Very frequent
HP:0025404HP:0025404Abnormal visual fixation0VPS4A CL E G H2718313488OMIM:619273CIMDAG SYNDROME; CIMDAG1
HP:0025404HP:0025405Visual fixation instability1ASAH1 CL E G H427735ORPHA:333Farber diseaseHP:0040283 - Occasional78
HP:0025404HP:0025405Visual fixation instability1ASPA CL E G H443756ORPHA:314911Severe Canavan diseaseHP:0040281 - Very frequent48
HP:0025404HP:0025549Eccentric visual fixation1ATF6 CL E G H22926791ORPHA:49382AchromatopsiaHP:0040283 - Occasional10
HP:0025404HP:0025405Visual fixation instability1CLCN3 CL E G H11822021OMIM:619517NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ABNORMALITIES; NEDSBA2
HP:0025404HP:0025405Visual fixation instability1CLP1 CL E G H1097816999ORPHA:411493Pontocerebellar hypoplasia type 10HP:0040283 - Occasional7
HP:0025404HP:0025549Eccentric visual fixation1CNGA3 CL E G H12612150ORPHA:49382AchromatopsiaHP:0040283 - Occasional82
HP:0025404HP:0025549Eccentric visual fixation1CNGB3 CL E G H547142153ORPHA:49382AchromatopsiaHP:0040283 - Occasional194
HP:0025404HP:0025549Eccentric visual fixation1GNAT2 CL E G H27804394ORPHA:49382AchromatopsiaHP:0040283 - Occasional19
HP:0025404HP:0025405Visual fixation instability1ITPR1 CL E G H37086180ORPHA:208513Spinocerebellar ataxia type 29HP:0040283 - Occasional177
HP:0025404HP:0025549Eccentric visual fixation1OFD1 CL E G H84812567OMIM:300424Retinitis pigmentosa 23201
HP:0025404HP:0025549Eccentric visual fixation1PDE6C CL E G H51468787ORPHA:49382AchromatopsiaHP:0040283 - Occasional80
HP:0025404HP:0025549Eccentric visual fixation1PDE6H CL E G H51498790ORPHA:49382AchromatopsiaHP:0040283 - Occasional14
HP:0025404HP:0025405Visual fixation instability1PET100 CL E G H10013180140038OMIM:619055MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 12; MC4DN126
HP:0025404HP:0025405Visual fixation instability1RNF13 CL E G H1134210057ORPHA:544503RNF13-related severe early-onset epileptic encephalopathyHP:0040282 - Frequent
HP:0025404HP:0025549Eccentric visual fixation1RPGR CL E G H610310295ORPHA:49382AchromatopsiaHP:0040283 - Occasional200
HP:0025404HP:0025405Visual fixation instability1SLC39A8 CL E G H6411620862ORPHA:468699SLC39A8-CDGHP:0040282 - Frequent11
HP:0025404HP:0025405Visual fixation instability1VPS4A CL E G H2718313488OMIM:619273CIMDAG SYNDROME; CIMDAG1
HP:0025404HP:0500072Absolute eccentric fixation2 CL E G H
HP:0025404HP:0031769Peripheral fixation2 CL E G H
HP:0025404HP:0031768Parafoveal fixation2 CL E G H


Genes (24) :ASAH1 ASPA ATF6 CLCN3 CLP1 CNGA3 CNGB3 DPM1 GBA1 GNAT2 ITPR1 OFD1 PDE6C PDE6H PET100 PIGB PTPN23 RANBP2 RNF13 RPGR SLC39A8 VPS13D VPS41 VPS4A

Diseases (17) :ORPHA:333 ORPHA:314911 ORPHA:49382 OMIM:619517 ORPHA:411493 ORPHA:79322 ORPHA:2072 ORPHA:208513 OMIM:300424 OMIM:619055 OMIM:618580 OMIM:618890 ORPHA:88619 ORPHA:544503 ORPHA:468699 ORPHA:95434 OMIM:619273
 

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