Human Phenotype Ontology 
Grandparent Node:
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Abnormality of eye movement (HP:0000496)help
Parent Node:
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Abnormal saccadic eye movements (HP:0000570)help
..Starting node
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Slow saccadic eye movements (HP:0000514)help
Term ID: 514
Name: Slow saccadic eye movements
Synonym: Slow eye movements; Slow saccades; Slow visual tracking
Definition: An abnormally slow velocity of the saccadic eye movements.
Comments:
Reference: HP:0000514
Genes and Diseases:
 
       Child Nodes:
........expandSlowed horizontal saccades (HP:0007885) help

 Sister Nodes: 
..expandDysmetric saccades (HP:0000641) help
..expandHypermetric saccades (HP:0007338) help
..expandHypometric saccades (HP:0000571) help
..expandSquare-wave jerks (HP:0025402) 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:0000514HP:0000514Slow saccadic eye movements0AFG3L2 CL E G H10939315OMIM:610246Spinocerebellar ataxia 28.86
HP:0000514HP:0000514Slow saccadic eye movements0AFG3L2 CL E G H10939315ORPHA:101109Spinocerebellar ataxia type 28HP:0040282 - Frequent86
HP:0000514HP:0000514Slow saccadic eye movements0AGTPBP1 CL E G H2328717258OMIM:618276Neurodegeneration, childhood-onset, with cerebellar atrophy.1
HP:0000514HP:0000514Slow saccadic eye movements0ALS2 CL E G H57679443OMIM:607225Spastic paralysis, infantile-onset ascending.114
HP:0000514HP:0000514Slow saccadic eye movements0ATP13A2 CL E G H2340030213OMIM:606693Kufor-Rakeb syndrome100
HP:0000514HP:0000514Slow saccadic eye movements0ATP13A2 CL E G H2340030213ORPHA:306674Kufor-Rakeb syndromeHP:0040281 - Very frequent100
HP:0000514HP:0000514Slow saccadic eye movements0ATP2B3 CL E G H492816OMIM:302500Spinocerebellar ataxia, X-linked 1.19
HP:0000514HP:0000514Slow saccadic eye movements0ATXN1 CL E G H631010548OMIM:164400Spinocerebellar ataxia 1.19
HP:0000514HP:0000514Slow saccadic eye movements0ATXN1 CL E G H631010548ORPHA:98755Spinocerebellar ataxia type 1HP:0040282 - Frequent19
HP:0000514HP:0000514Slow saccadic eye movements0ATXN2 CL E G H631110555OMIM:183090Spinocerebellar ataxia 2.11
HP:0000514HP:0000514Slow saccadic eye movements0ATXN2 CL E G H631110555ORPHA:98756Spinocerebellar ataxia type 2HP:0040282 - Frequent11
HP:0000514HP:0000514Slow saccadic eye movements0ATXN7 CL E G H631410560OMIM:164500Spinocerebellar ataxia 7 opca III opca with retinal degeneration opca with macular degeneration and external ophthalmoplegia autosomal dominant cerebellar ataxia, type II adca, type II.8
HP:0000514HP:0000514Slow saccadic eye movements0ATXN8 CL E G H72406632925OMIM:608768Spinocerebellar ataxia 8.1
HP:0000514HP:0000514Slow saccadic eye movements0ATXN8OS CL E G H631510561OMIM:608768Spinocerebellar ataxia 8.1
HP:0000514HP:0000514Slow saccadic eye movements0CHP1 CL E G H1126117433OMIM:618438Spastic ataxia 9, autosomal recessive.
HP:0000514HP:0000514Slow saccadic eye movements0COQ5 CL E G H8427428722OMIM:619028COENZYME Q10 DEFICIENCY, PRIMARY, 9; COQ10D9
HP:0000514HP:0000514Slow saccadic eye movements0DARS2 CL E G H5515725538ORPHA:137898Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndromeHP:0040284 - Very rare60
HP:0000514HP:0000514Slow saccadic eye movements0DHX16 CL E G H84492739OMIM:618733NEUROMUSCULAR OCULOAUDITORY SYNDROME; NMOAS
HP:0000514HP:0000514Slow saccadic eye movements0ELOVL5 CL E G H6048121308OMIM:615957Spinocerebellar ataxia 38.4
HP:0000514HP:0000514Slow saccadic eye movements0ELOVL5 CL E G H6048121308ORPHA:423296Spinocerebellar ataxia type 38HP:0040282 - Frequent4
HP:0000514HP:0000514Slow saccadic eye movements0FBXO7 CL E G H2579313586OMIM:260300Parkinson disease 15, autosomal recessive early-onset.36
HP:0000514HP:0000514Slow saccadic eye movements0FBXO7 CL E G H2579313586ORPHA:171695Parkinsonian-pyramidal syndromeHP:0040282 - Frequent36
HP:0000514HP:0000514Slow saccadic eye movements0GBA1 CL E G H26294177OMIM:231005Gaucher disease, type IIIC
HP:0000514HP:0000514Slow saccadic eye movements0GJC2 CL E G H5716517494OMIM:613206Spastic paraplegia 44, autosomal recessive.37
HP:0000514HP:0000514Slow saccadic eye movements0MAPT CL E G H41376893ORPHA:240071Classic progressive supranuclear palsy syndromeHP:0040282 - Frequent140
HP:0000514HP:0000514Slow saccadic eye movements0MAPT CL E G H41376893ORPHA:240103Progressive supranuclear palsy-corticobasal syndromeHP:0040281 - Very frequent140
HP:0000514HP:0000514Slow saccadic eye movements0MECR CL E G H5110219691OMIM:617282Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities6
HP:0000514HP:0000514Slow saccadic eye movements0MRE11 CL E G H43617230ORPHA:251347Ataxia-telangiectasia-like disorderHP:0040282 - Frequent532
HP:0000514HP:0000514Slow saccadic eye movements0NOP56 CL E G H1052815911OMIM:614153Spinocerebellar ataxia 369
HP:0000514HP:0000514Slow saccadic eye movements0NOP56 CL E G H1052815911ORPHA:276198Spinocerebellar ataxia type 36HP:0040282 - Frequent9
HP:0000514HP:0000514Slow saccadic eye movements0PDYN CL E G H51738820OMIM:610245Spinocerebellar ataxia 23.52
HP:0000514HP:0000514Slow saccadic eye movements0PDYN CL E G H51738820ORPHA:101108Spinocerebellar ataxia type 23HP:0040282 - Frequent52
HP:0000514HP:0000514Slow saccadic eye movements0PEX2 CL E G H58289717OMIM:614867Peroxisome biogenesis disorder 5B.82
HP:0000514HP:0000514Slow saccadic eye movements0PIK3R5 CL E G H2353330035OMIM:615217Ataxia-Oculomotor apraxia 3.11
HP:0000514HP:0000514Slow saccadic eye movements0PLD3 CL E G H2364617158OMIM:617770Spinocerebellar ataxia 46.2
HP:0000514HP:0000514Slow saccadic eye movements0PRNP CL E G H56219449ORPHA:157941Huntington disease-like 1HP:0040283 - Occasional69
HP:0000514HP:0000514Slow saccadic eye movements0SHMT2 CL E G H647210852OMIM:619121NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES; NEDCASB
HP:0000514HP:0000514Slow saccadic eye movements0SLC44A1 CL E G H2344618798OMIM:618868NEURODEGENERATION, CHILDHOOD-ONSET, WITH ATAXIA, TREMOR, OPTIC ATROPHY, AND COGNITIVE DECLINE; CONATOC1
HP:0000514HP:0000514Slow saccadic eye movements0SNCA CL E G H662211138ORPHA:171695Parkinsonian-pyramidal syndromeHP:0040282 - Frequent65
HP:0000514HP:0000514Slow saccadic eye movements0SYT2 CL E G H12783311510OMIM:619461MYASTHENIC SYNDROME, CONGENITAL, 7B, PRESYNAPTIC, AUTOSOMAL RECESSIVE; CMS7B4
HP:0000514HP:0000514Slow saccadic eye movements0TGM6 CL E G H34364116255OMIM:613908Spinocerebellar ataxia 3558
HP:0000514HP:0000514Slow saccadic eye movements0TMEM240 CL E G H33945325186OMIM:607454Spinocerebellar ataxia 21.9
HP:0000514HP:0000514Slow saccadic eye movements0TNR CL E G H714311953OMIM:619653NEURODEVELOPMENTAL DISORDER, NONPROGRESSIVE, WITH SPASTICITY AND TRANSIENT OPISTHOTONUS; NEDSTO7
HP:0000514HP:0000514Slow saccadic eye movements0VAMP1 CL E G H684312642ORPHA:251282Autosomal dominant spastic ataxia type 1HP:0040282 - Frequent2
HP:0000514HP:0000514Slow saccadic eye movements0VAMP1 CL E G H684312642OMIM:108600Spastic ataxia 1, autosomal dominant.2
HP:0000514HP:0000514Slow saccadic eye movements0VPS13A CL E G H232301908ORPHA:2388ChoreoacanthocytosisHP:0040283 - Occasional130
HP:0000514HP:0007885Slowed horizontal saccades1GBA1 CL E G H26294177OMIM:231005Gaucher disease, type IIIC.
HP:0000514HP:0007885Slowed horizontal saccades1MAPT CL E G H41376893ORPHA:240103Progressive supranuclear palsy-corticobasal syndromeHP:0040282 - Frequent140


Genes (36) :AFG3L2 AGTPBP1 ALS2 ATP13A2 ATP2B3 ATXN1 ATXN2 ATXN7 ATXN8 ATXN8OS CHP1 COQ5 DARS2 DHX16 ELOVL5 FBXO7 GBA1 GJC2 MAPT MECR MRE11 NOP56 PDYN PEX2 PIK3R5 PLD3 PRNP SHMT2 SLC44A1 SNCA SYT2 TGM6 TMEM240 TNR VAMP1 VPS13A

Diseases (44) :OMIM:610246 ORPHA:101109 OMIM:618276 OMIM:607225 OMIM:606693 ORPHA:306674 OMIM:302500 OMIM:164400 ORPHA:98755 OMIM:183090 ORPHA:98756 OMIM:164500 OMIM:608768 OMIM:618438 OMIM:619028 ORPHA:137898 OMIM:618733 OMIM:615957 ORPHA:423296 OMIM:260300 ORPHA:171695 OMIM:231005 OMIM:613206 ORPHA:240071 ORPHA:240103 OMIM:617282 ORPHA:251347 OMIM:614153 ORPHA:276198 OMIM:610245 ORPHA:101108 OMIM:614867 OMIM:615217 OMIM:617770 ORPHA:157941 OMIM:619121 OMIM:618868 OMIM:619461 OMIM:613908 OMIM:607454 OMIM:619653 ORPHA:251282 OMIM:108600 ORPHA:2388
 

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