Human Phenotype Ontology 
Grandparent Node:
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Abnormality of eye movement (HP:0000496)help
Parent Node:
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Abnormal involuntary eye movements (HP:0012547)help
..Starting node
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Nystagmus (HP:0000639)help
Term ID: 639
Name: Nystagmus
Synonym: Involuntary, rapid, rhythmic eye movements
Definition: Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.
Comments:
Reference: HP:0000639
Genes and Diseases:
 
       Child Nodes:
........expandGaze-evoked nystagmus (HP:0000640) help
................... HP:0007979 Gaze-evoked horizontal nystagmus
........expandHorizontal nystagmus (HP:0000666) help
................... HP:0007286 Horizontal jerk nystagmus
................... HP:0007747 Monocular horizontal nystagmus
................... HP:0007811 Horizontal pendular nystagmus
................... HP:0007859 Congenital horizontal nystagmus
................... HP:0007979 Gaze-evoked horizontal nystagmus
................... HP:0008026 Horizontal opticokinetic nystagmus
........expandNystagmus-induced head nodding (HP:0001361) help
........expandRotary nystagmus (HP:0001583) help
........expandCongenital nystagmus (HP:0006934) help
................... HP:0007811 Horizontal pendular nystagmus
................... HP:0007859 Congenital horizontal nystagmus
........expandVestibular nystagmus (HP:0010542) help
........expandVertical nystagmus (HP:0010544) help
................... HP:0010545 Downbeat nystagmus
................... HP:0011477 Upbeat nystagmus
........expandPendular nystagmus (HP:0012043) help
................... HP:0007811 Horizontal pendular nystagmus
................... HP:0010533 Spasmus nutans
................... HP:0012044 Seesaw nystagmus
........expandDivergence nystagmus (HP:0030691) help

 Sister Nodes: 
..expandChaotic rapid conjugate ocular movements (HP:0007295) help
..expandOpsoclonus (HP:0010543) help
..expandParoxysmal involuntary eye movements (HP:0007704) help
..expandUncontrolled eye movements (HP:0007738) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0000639HP:0000639Nystagmus0AARS CL E G H16616339Epileptic encephalopathy, early infantile, 29616339C4225361OMIM12120601065
HP:0000639HP:0000639Nystagmus0AARS2 CL E G H57505615889Leukoencephalopathy, progressive, with ovarian failure615889C4014588OMIM13126821022612035
HP:0000639HP:0000639Nystagmus0ABCA4 CL E G H24791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11280151134601691
HP:0000639HP:0000639Nystagmus0ABCB7 CL E G H222802ORPHA1920448300135
HP:0000639HP:0000639Nystagmus0ABHD12 CL E G H26090612674Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract612674C2675204OMIM12116115868613599
HP:0000639HP:0000639Nystagmus0ABHD5 CL E G H5109998907ORPHA13915521396604780
HP:0000639HP:0000639Nystagmus0ABHD5 CL E G H51099275630Triglyceride storage disease with ichthyosis275630C0268238OMIM13915521396604780
HP:0000639HP:0000639Nystagmus0ACO2 CL E G H50614559Infantile cerebellar-retinal degeneration614559C3281192OMIM119185118100850
HP:0000639HP:0000639Nystagmus0ACOX1 CL E G H512971ORPHA126257119609751
HP:0000639HP:0000639Nystagmus0ACOX1 CL E G H51264470Pseudoneonatal adrenoleukodystrophy264470C1849678OMIM126257119609751
HP:0000639HP:0000639Nystagmus0ADD3 CL E G H120617008Cerebral palsy, spastic quadriplegic, 3617008C4310767OMIM1847245601568
HP:0000639HP:0000639Nystagmus0ADGRG1 CL E G H9289606854Polymicrogyria, bilateral frontoparietal606854C1847352OMIM1362774512604110
HP:0000639HP:0000639Nystagmus0ADPRHL2 CL E G H54936618170NEURODEGENERATION, CHILDHOOD-ONSET, STRESS-INDUCED, WITH VARIABLE ATAXIA AND SEIZURES618170OMIM1621304610624
HP:0000639HP:0000639Nystagmus0ADSL CL E G H158103050Adenylosuccinate lyase deficiency103050C0268126OMIM158279291608222
HP:0000639HP:0000639Nystagmus0AFG3L2 CL E G H10939101109ORPHA140266315604581
HP:0000639HP:0000639Nystagmus0AGBL5 CL E G H60509791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1911426147615900
HP:0000639HP:0000639Nystagmus0AGK CL E G H557501369ORPHA12718621869610345
HP:0000639HP:0000639Nystagmus0AGK CL E G H55750212350Cataract and cardiomyopathy212350C1859317OMIM12718621869610345
HP:0000639HP:0000639Nystagmus0AGTPBP1 CL E G H23287618276618276618276OMIM115217258606830
HP:0000639HP:0000639Nystagmus0AHI1 CL E G H54806220493ORPHA19642221575608894
HP:0000639HP:0000639Nystagmus0AHI1 CL E G H54806475Acquired hypoprothrombinemiaORPHA19642221575608894
HP:0000639HP:0000639Nystagmus0AHI1 CL E G H54806791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA19642221575608894
HP:0000639HP:0000639Nystagmus0AHI1 CL E G H54806608629Joubert syndrome 3608629C1837713OMIM19642221575608894
HP:0000639HP:0000639Nystagmus0AHR CL E G H196791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA14116348600253
HP:0000639HP:0000639Nystagmus0AIMP1 CL E G H9255260600Leukodystrophy, hypomyelinating 3260600C1850053OMIM153410648603605
HP:0000639HP:0000639Nystagmus0AIPL1 CL E G H2374665ORPHA179232359604392
HP:0000639HP:0000639Nystagmus0ALG2 CL E G H8536579326ORPHA1515323159607905
HP:0000639HP:0000639Nystagmus0ALG2 CL E G H85365607906Congenital disorder of glycosylation type 1I607906C1842836OMIM1515323159607905
HP:0000639HP:0000639Nystagmus0ALMS1 CL E G H784064ORPHA13161745428606844
HP:0000639HP:0000639Nystagmus0ALMS1 CL E G H7840203800Alstrom syndrome203800C0268425OMIM13161745428606844
HP:0000639HP:0000639Nystagmus0ALX4 CL E G H60529228390ORPHA127221450605420
HP:0000639HP:0000639Nystagmus0ALX4 CL E G H6052952022ORPHA127221450605420
HP:0000639HP:0000639Nystagmus0ANK1 CL E G H286251066ORPHA1111388492612641
HP:0000639HP:0000639Nystagmus0ANO10 CL E G H55129613728Spinocerebellar ataxia, autosomal recessive 10613728C3150998OMIM11915325519613726
HP:0000639HP:0000639Nystagmus0ANTXR1 CL E G H84168230740Odontotrichomelic syndrome230740C0406723OMIM1142421014606410
HP:0000639HP:0000639Nystagmus0AP3B1 CL E G H8546608233Hermansky Pudlak syndrome 2608233C1842362OMIM135238566603401
HP:0000639HP:0000639Nystagmus0AP3D1 CL E G H8943284804ORPHA1490568607246
HP:0000639HP:0000639Nystagmus0AP3D1 CL E G H8943617050Hermansky-Pudlak syndrome 10617050C4310746OMIM1490568607246
HP:0000639HP:0000639Nystagmus0AP4E1 CL E G H23431613744Spastic paraplegia 51, autosomal recessive613744C3151056OMIM118178573607244
HP:0000639HP:0000639Nystagmus0ARHGEF18 CL E G H23370791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1715117090616432
HP:0000639HP:0000639Nystagmus0ARHGEF2 CL E G H9181617523Neurodevelopmental disorder with midbrain and hindbrain malformations617523C4479613OMIM1231682607560
HP:0000639HP:0000639Nystagmus0ARID1A CL E G H82891465ORPHA13617511110603024
HP:0000639HP:0000639Nystagmus0ARID1B CL E G H574921465ORPHA118857518040614556
HP:0000639HP:0000639Nystagmus0ARID1B CL E G H57492135900Coffin-Siris syndrome 1135900C3281201OMIM118857518040614556
HP:0000639HP:0000639Nystagmus0ARID2 CL E G H1965281465ORPHA11111518037609539
HP:0000639HP:0000639Nystagmus0ARL13B CL E G H200894475Acquired hypoprothrombinemiaORPHA11012025419608922
HP:0000639HP:0000639Nystagmus0ARL2BP CL E G H23568791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA153517146615407
HP:0000639HP:0000639Nystagmus0ARL3 CL E G H403475Acquired hypoprothrombinemiaORPHA1333694604695
HP:0000639HP:0000639Nystagmus0ARL3 CL E G H403791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1333694604695
HP:0000639HP:0000639Nystagmus0ARL6 CL E G H84100110ORPHA1217913210608845
HP:0000639HP:0000639Nystagmus0ARL6 CL E G H84100791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1217913210608845
HP:0000639HP:0000639Nystagmus0ARMC9 CL E G H80210475Acquired hypoprothrombinemiaORPHA11110520730617612
HP:0000639HP:0000639Nystagmus0ARNT2 CL E G H99153157Lachiewicz Sibley syndromeORPHA164916876606036
HP:0000639HP:0000639Nystagmus0ARX CL E G H1703022508ORPHA19846618060300382
HP:0000639HP:0000639Nystagmus0ARX CL E G H170302300004Proud Levine Carpenter syndrome300004C0796124OMIM19846618060300382
HP:0000639HP:0000639Nystagmus0ASAH1 CL E G H427333ORPHA171306735613468
HP:0000639HP:0000639Nystagmus0ASPA CL E G H443271900Spongy degeneration of central nervous system271900C0206307OMIM1102177756608034
HP:0000639HP:0000639Nystagmus0ATAD3A CL E G H55210617183Harel-Yoon syndrome617183C4310677OMIM11718625567612316
HP:0000639HP:0000639Nystagmus0ATCAY CL E G H8530094122ORPHA13172779608179
HP:0000639HP:0000639Nystagmus0ATCAY CL E G H85300601238Cerebellar ataxia, Cayman type601238C1832585OMIM13172779608179
HP:0000639HP:0000639Nystagmus0ATM CL E G H472100ORPHA113248934795607585
HP:0000639HP:0000639Nystagmus0ATM CL E G H472208900Ataxia-telangiectasia syndrome208900C0004135OMIM113248934795607585
HP:0000639HP:0000639Nystagmus0ATN1 CL E G H1822101ORPHA15743033607462
HP:0000639HP:0000639Nystagmus0ATP13A2 CL E G H23400617225Spastic paraplegia 78, autosomal recessive617225C4310662OMIM14436530213610513
HP:0000639HP:0000639Nystagmus0ATP1A2 CL E G H477569ORPHA199537800182340
HP:0000639HP:0000639Nystagmus0ATP1A2 CL E G H477104290Alternating hemiplegia of childhood 1104290C3549447OMIM199537800182340
HP:0000639HP:0000639Nystagmus0ATP1A3 CL E G H478614820Alternating hemiplegia of childhood 2614820C3553788OMIM1122407801182350
HP:0000639HP:0000639Nystagmus0ATP1A3 CL E G H478601338Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss601338C1832466OMIM1122407801182350
HP:0000639HP:0000639Nystagmus0ATP2B3 CL E G H492302500Spinocerebellar ataxia, X-linked 1302500C0796205OMIM17275816300014
HP:0000639HP:0000639Nystagmus0ATP5F1A CL E G H498615228Mitochondrial complex v (atp synthase) deficiency, nuclear type 4615228C3808899OMIM1390823164360
HP:0000639HP:0000639Nystagmus0ATP6V1E1 CL E G H529617402CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC617402C4479387OMIM1278857108746
HP:0000639HP:0000639Nystagmus0ATXN1 CL E G H6310164400Spinocerebellar ataxia 1164400C0752120OMIM176910548601556
HP:0000639HP:0000639Nystagmus0ATXN10 CL E G H25814603516Spinocerebellar ataxia 10603516C1963674OMIM147710549611150
HP:0000639HP:0000639Nystagmus0ATXN2 CL E G H631198756ORPHA1444910555601517
HP:0000639HP:0000639Nystagmus0ATXN7 CL E G H631494147ORPHA163110560607640
HP:0000639HP:0000639Nystagmus0ATXN8 CL E G H72406698760ORPHA12232925613289
HP:0000639HP:0000639Nystagmus0ATXN8 CL E G H724066608768Spinocerebellar ataxia 8608768C1837454OMIM12232925613289
HP:0000639HP:0000639Nystagmus0ATXN8OS CL E G H631598760ORPHA156910561603680
HP:0000639HP:0000639Nystagmus0ATXN8OS CL E G H6315608768Spinocerebellar ataxia 8608768C1837454OMIM156910561603680
HP:0000639HP:0000639Nystagmus0B3GLCT CL E G H145173709ORPHA11518120207610308
HP:0000639HP:0000639Nystagmus0B3GLCT CL E G H145173261540Peters plus syndrome261540C0796012OMIM11518120207610308
HP:0000639HP:0000639Nystagmus0B9D1 CL E G H27077475Acquired hypoprothrombinemiaORPHA11015824123614144
HP:0000639HP:0000639Nystagmus0B9D1 CL E G H27077617120Joubert syndrome 27617120C4310706OMIM11015824123614144
HP:0000639HP:0000639Nystagmus0BBIP1 CL E G H92482110ORPHA114328093613605
HP:0000639HP:0000639Nystagmus0BBS1 CL E G H582110ORPHA1105309966209901
HP:0000639HP:0000639Nystagmus0BBS1 CL E G H582209900Bardet-Biedl syndrome 1209900C2936862OMIM1105309966209901
HP:0000639HP:0000639Nystagmus0BBS10 CL E G H79738110ORPHA110931726291610148
HP:0000639HP:0000639Nystagmus0BBS12 CL E G H166379110ORPHA16123726648610683
HP:0000639HP:0000639Nystagmus0BBS2 CL E G H583110ORPHA196277967606151
HP:0000639HP:0000639Nystagmus0BBS2 CL E G H583791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA196277967606151
HP:0000639HP:0000639Nystagmus0BBS4 CL E G H585110ORPHA154217969600374
HP:0000639HP:0000639Nystagmus0BBS5 CL E G H129880110ORPHA13186970603650
HP:0000639HP:0000639Nystagmus0BBS7 CL E G H55212110ORPHA14417518758607590
HP:0000639HP:0000639Nystagmus0BBS9 CL E G H27241110ORPHA15329230000607968
HP:0000639HP:0000639Nystagmus0BCS1L CL E G H617256000Leigh syndrome256000C0023264OMIM1371741020603647
HP:0000639HP:0000639Nystagmus0BDNF CL E G H627893ORPHA135431033113505
HP:0000639HP:0000639Nystagmus0BEAN1 CL E G H146227217012ORPHA123324160612051
HP:0000639HP:0000639Nystagmus0BEST1 CL E G H7439791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA131935412703607854
HP:0000639HP:0000639Nystagmus0BEST1 CL E G H7439193220Vitreoretinochoroidopathy193220C1860406OMIM131935412703607854
HP:0000639HP:0000639Nystagmus0BRAF CL E G H673115150Cardiofaciocutaneous syndrome 1115150CN029449OMIM1684901097164757
HP:0000639HP:0000639Nystagmus0BRAF CL E G H6731340Chromosome 4, monosomy 4qC0265404ORPHA1684901097164757
HP:0000639HP:0000639Nystagmus0BRAT1 CL E G H221927618056NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES618056CN252657OMIM11848221701614506
HP:0000639HP:0000639Nystagmus0BUB1B CL E G H701257300Mosaic variegated aneuploidy syndrome 1257300CN031748OMIM1293231149602860
HP:0000639HP:0000639Nystagmus0C12orf65 CL E G H91574613559Combined oxidative phosphorylation deficiency 7613559C3150801OMIM11111426784613541
HP:0000639HP:0000639Nystagmus0C8orf37 CL E G H157657110ORPHA11711927232614477
HP:0000639HP:0000639Nystagmus0C8orf37 CL E G H157657791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11711927232614477
HP:0000639HP:0000639Nystagmus0CA4 CL E G H762791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA110851375114760
HP:0000639HP:0000639Nystagmus0CABP4 CL E G H57010610427Congenital stationary night blindness, type 2B610427C1864877OMIM1131941386608965
HP:0000639HP:0000639Nystagmus0CACNA1A CL E G H77397ORPHA125113931388601011
HP:0000639HP:0000639Nystagmus0CACNA1A CL E G H773569ORPHA125113931388601011
HP:0000639HP:0000639Nystagmus0CACNA1A CL E G H773617106Epileptic encephalopathy, early infantile, 42617106C4310716OMIM125113931388601011
HP:0000639HP:0000639Nystagmus0CACNA1A CL E G H773141500Familial hemiplegic migraine type 1141500C1832884OMIM125113931388601011
HP:0000639HP:0000639Nystagmus0CACNA1E CL E G H777618285618285618285OMIM124761392601013
HP:0000639HP:0000639Nystagmus0CACNA1F CL E G H778178333ORPHA11854081393300110
HP:0000639HP:0000639Nystagmus0CACNA1F CL E G H778300600Ocular albinism, type II300600C0268505OMIM11854081393300110
HP:0000639HP:0000639Nystagmus0CASK CL E G H8573163937ORPHA11194461497300172
HP:0000639HP:0000639Nystagmus0CAV1 CL E G H857606721Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome606721C1847582OMIM113621527601047
HP:0000639HP:0000639Nystagmus0CC2D2A CL E G H575452318ORPHA19658429253612013
HP:0000639HP:0000639Nystagmus0CC2D2A CL E G H57545216360COACH syndrome216360C1857662OMIM19658429253612013
HP:0000639HP:0000639Nystagmus0CC2D2A CL E G H575451454Common atrioventricular canalC0221215ORPHA19658429253612013
HP:0000639HP:0000639Nystagmus0CC2D2A CL E G H57545612285Joubert syndrome 9612285C2676788OMIM19658429253612013
HP:0000639HP:0000639Nystagmus0CDHR1 CL E G H92211791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA14934614550609502
HP:0000639HP:0000639Nystagmus0CEP104 CL E G H9731475Acquired hypoprothrombinemiaORPHA1715224866616690
HP:0000639HP:0000639Nystagmus0CEP120 CL E G H153241220493ORPHA198726690613446
HP:0000639HP:0000639Nystagmus0CEP120 CL E G H153241475Acquired hypoprothrombinemiaORPHA198726690613446
HP:0000639HP:0000639Nystagmus0CEP120 CL E G H153241617761JOUBERT SYNDROME 31617761C4540355OMIM198726690613446
HP:0000639HP:0000639Nystagmus0CEP290 CL E G H8018465ORPHA131088429021610142
HP:0000639HP:0000639Nystagmus0CEP290 CL E G H801842318ORPHA131088429021610142
HP:0000639HP:0000639Nystagmus0CEP290 CL E G H80184110ORPHA131088429021610142
HP:0000639HP:0000639Nystagmus0CEP290 CL E G H80184610188Joubert syndrome 5610188C1857780OMIM131088429021610142
HP:0000639HP:0000639Nystagmus0CEP41 CL E G H95681220493ORPHA11123212370610523
HP:0000639HP:0000639Nystagmus0CEP41 CL E G H95681475Acquired hypoprothrombinemiaORPHA11123212370610523
HP:0000639HP:0000639Nystagmus0CEP78 CL E G H84131617236Cone-rod dystrophy and hearing loss617236C4310657OMIM11015525740617110
HP:0000639HP:0000639Nystagmus0CERKL CL E G H375298791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA13925021699608381
HP:0000639HP:0000639Nystagmus0CFAP410 CL E G H755602271Spondylometaphyseal dysplasia axial602271C1865695OMIM11721260603191
HP:0000639HP:0000639Nystagmus0CHD7 CL E G H55636138ORPHA1884126620626608892
HP:0000639HP:0000639Nystagmus0CISD2 CL E G H4938563463ORPHA142324212611507
HP:0000639HP:0000639Nystagmus0CLCN7 CL E G H1186667ORPHA11002682025602727
HP:0000639HP:0000639Nystagmus0CLDN16 CL E G H10686248250Primary hypomagnesemia248250C0268448OMIM1651882037603959
HP:0000639HP:0000639Nystagmus0CLDN19 CL E G H1494612196Esophageal atresia coloboma talipesORPHA121962040610036
HP:0000639HP:0000639Nystagmus0CLDN19 CL E G H149461248190Hypomagnesemia 5, renal, with ocular involvement248190C1855466OMIM121962040610036
HP:0000639HP:0000639Nystagmus0CLP1 CL E G H10978615803Pontocerebellar hypoplasia, type 10615803C4014347OMIM123216999608757
HP:0000639HP:0000639Nystagmus0CLRN1 CL E G H7401791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA13917512605606397
HP:0000639HP:0000639Nystagmus0CNGA1 CL E G H1259791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1331672148123825
HP:0000639HP:0000639Nystagmus0CNGA3 CL E G H1261216900Achromatopsia 2216900C1857618OMIM11522482150600053
HP:0000639HP:0000639Nystagmus0CNGB1 CL E G H1258791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1624202151600724
HP:0000639HP:0000639Nystagmus0CNNM4 CL E G H26504217080Cone-rod dystrophy amelogenesis imperfecta217080C1857588OMIM124200105607805
HP:0000639HP:0000639Nystagmus0CNNM4 CL E G H265041873Diphallus rachischisis imperforate anusORPHA124200105607805
HP:0000639HP:0000639Nystagmus0COG4 CL E G H25839263501ORPHA1614118620606976
HP:0000639HP:0000639Nystagmus0COL18A1 CL E G H807811571ORPHA1364472195120328
HP:0000639HP:0000639Nystagmus0COL18A1 CL E G H80781267750Knobloch syndrome 1267750C1849409OMIM1364472195120328
HP:0000639HP:0000639Nystagmus0COQ2 CL E G H27235607426Coenzyme Q10 deficiency, primary 1607426C1843920OMIM13310225223609825
HP:0000639HP:0000639Nystagmus0COX10 CL E G H1352256000Leigh syndrome256000C0023264OMIM1132082260602125
HP:0000639HP:0000639Nystagmus0COX15 CL E G H1355255241ORPHA151882263603646
HP:0000639HP:0000639Nystagmus0COX15 CL E G H1355256000Leigh syndrome256000C0023264OMIM151882263603646
HP:0000639HP:0000639Nystagmus0CPLANE1 CL E G H652502754ORPHA111859425801614571
HP:0000639HP:0000639Nystagmus0CPLANE1 CL E G H65250475Acquired hypoprothrombinemiaORPHA111859425801614571
HP:0000639HP:0000639Nystagmus0CPLANE1 CL E G H65250277170Orofaciodigital syndrome 6277170C2745997OMIM111859425801614571
HP:0000639HP:0000639Nystagmus0CPLX1 CL E G H108151941904p partial monosomy syndrome194190C1956097OMIM131432309605032
HP:0000639HP:0000639Nystagmus0CRB1 CL E G H2341865ORPHA13475442343604210
HP:0000639HP:0000639Nystagmus0CRB1 CL E G H23418791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA13475442343604210
HP:0000639HP:0000639Nystagmus0CRB1 CL E G H23418600105Retinitis pigmentosa 12600105C1838647OMIM13475442343604210
HP:0000639HP:0000639Nystagmus0CRX CL E G H140665ORPHA11072982383602225
HP:0000639HP:0000639Nystagmus0CRX CL E G H1406791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11072982383602225
HP:0000639HP:0000639Nystagmus0CRYAA CL E G H1409604219Cataract, autosomal dominant604219C1858679OMIM1271292388123580
HP:0000639HP:0000639Nystagmus0CRYBB1 CL E G H1414611544Cataract, congenital nuclear, autosomal recessive 3611544C1969062OMIM120652397600929
HP:0000639HP:0000639Nystagmus0CRYGC CL E G H1420604307Cataract, coppock-like604307C1852438OMIM128502410123680
HP:0000639HP:0000639Nystagmus0CSPP1 CL E G H79848475Acquired hypoprothrombinemiaORPHA12725726193611654
HP:0000639HP:0000639Nystagmus0CTBP1 CL E G H14871941904p partial monosomy syndrome194190C1956097OMIM111642494602618
HP:0000639HP:0000639Nystagmus0CTDP1 CL E G H915048431ORPHA112472498604927
HP:0000639HP:0000639Nystagmus0CTDP1 CL E G H9150604168Congenital Cataracts, Facial Dysmorphism, and Neuropathy604168C1858726OMIM112472498604927
HP:0000639HP:0000639Nystagmus0CTNNB1 CL E G H1499617572EXUDATIVE VITREORETINOPATHY 7617572C4539767OMIM1541802514116806
HP:0000639HP:0000639Nystagmus0DARS CL E G H1615615281Hypomyelination with brainstem and spinal cord involvement and leg spasticity615281C3809008OMIM1182678603084
HP:0000639HP:0000639Nystagmus0DARS2 CL E G H55157611105Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation611105C1970180OMIM16516325538610956
HP:0000639HP:0000639Nystagmus0DCX CL E G H1641300067Lissencephaly, X-linked300067C1848199OMIM11423302714300121
HP:0000639HP:0000639Nystagmus0DGUOK CL E G H1716251880Mitochondrial DNA-depletion syndrome 3, hepatocerebral251880C3151513OMIM1641222858601465
HP:0000639HP:0000639Nystagmus0DHCR24 CL E G H171835107ORPHA1101372859606418
HP:0000639HP:0000639Nystagmus0DHCR24 CL E G H1718602398Desmosterolosis602398C1865596OMIM1101372859606418
HP:0000639HP:0000639Nystagmus0DHCR7 CL E G H1717270400Smith-Lemli-Opitz syndrome270400C0175694OMIM12183762860602858
HP:0000639HP:0000639Nystagmus0DHDDS CL E G H79947791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1812220603608172
HP:0000639HP:0000639Nystagmus0DHX38 CL E G H9785791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1214117211605584
HP:0000639HP:0000639Nystagmus0DKK1 CL E G H22943268882ORPHA14222891605189
HP:0000639HP:0000639Nystagmus0DLAT CL E G H1737245348Pyruvate dehydrogenase E2 deficiency245348C1855565OMIM151012896608770
HP:0000639HP:0000639Nystagmus0DPAGT1 CL E G H1798608093Congenital disorder of glycosylation type 1J608093C2931004OMIM1421572995191350
HP:0000639HP:0000639Nystagmus0DPF2 CL E G H59771465ORPHA19149964601671
HP:0000639HP:0000639Nystagmus0DPM1 CL E G H8813608799Congenital disorder of glycosylation type 1E608799C1837396OMIM191203005603503
HP:0000639HP:0000639Nystagmus0DPYD CL E G H1806274270Dihydropyrimidine dehydrogenase deficiency274270C2720286OMIM11242853012612779
HP:0000639HP:0000639Nystagmus0DTNBP1 CL E G H84062614076Hermansky-Pudlak syndrome 7614076C3279756OMIM157317328607145
HP:0000639HP:0000639Nystagmus0EBP CL E G H10682302960Chondrodysplasia punctata 2 X-linked dominant302960C0282102OMIM1912373133300205
HP:0000639HP:0000639Nystagmus0ECHS1 CL E G H1892255241ORPHA1331843151602292
HP:0000639HP:0000639Nystagmus0ECHS1 CL E G H1892616277Mitochondrial short-chain enoyl-coa hydratase 1 deficiency616277C4225391OMIM1331843151602292
HP:0000639HP:0000639Nystagmus0EDNRB CL E G H1910277580Waardenburg syndrome type 4A277580C1848519OMIM1701913180131244
HP:0000639HP:0000639Nystagmus0EEF2 CL E G H1938101112ORPHA141053214130610
HP:0000639HP:0000639Nystagmus0EEF2 CL E G H1938609306Spinocerebellar ataxia 26609306C1836395OMIM141053214130610
HP:0000639HP:0000639Nystagmus0EFNB1 CL E G H1947304110Craniofrontonasal dysplasia304110C0220767OMIM11181813226300035
HP:0000639HP:0000639Nystagmus0EIF2S3 CL E G H196885282ORPHA151783267300161
HP:0000639HP:0000639Nystagmus0ELOVL4 CL E G H67851955ORPHA11712214415605512
HP:0000639HP:0000639Nystagmus0ELOVL4 CL E G H6785133190Erythrokeratodermia with ataxia133190C1851481OMIM11712214415605512
HP:0000639HP:0000639Nystagmus0ELOVL5 CL E G H60481423296ORPHA152121308611805
HP:0000639HP:0000639Nystagmus0ELOVL5 CL E G H60481615957Spinocerebellar ataxia 38615957C4014812OMIM152121308611805
HP:0000639HP:0000639Nystagmus0EPG5 CL E G H577241493Congenital mesoblastic nephromaORPHA16849529331615068
HP:0000639HP:0000639Nystagmus0EPG5 CL E G H57724242840Vici syndrome242840C1855772OMIM16849529331615068
HP:0000639HP:0000639Nystagmus0EPRS CL E G H2058617951LEUKODYSTROPHY, HYPOMYELINATING, 15617951CN244566OMIM163418138295
HP:0000639HP:0000639Nystagmus0ERCC1 CL E G H2067610758Cerebrooculofacioskeletal syndrome 4610758C1853100OMIM18533433126380
HP:0000639HP:0000639Nystagmus0ERCC2 CL E G H2068220295ORPHA11082273434126340
HP:0000639HP:0000639Nystagmus0ERCC2 CL E G H2068601675Trichothiodystrophy 1, photosensitive601675C1866504OMIM11082273434126340
HP:0000639HP:0000639Nystagmus0ERCC3 CL E G H2071220295ORPHA1201223435133510
HP:0000639HP:0000639Nystagmus0ERCC4 CL E G H2072220295ORPHA1723483436133520
HP:0000639HP:0000639Nystagmus0ERCC5 CL E G H2073220295ORPHA1592633437133530
HP:0000639HP:0000639Nystagmus0ERCC6 CL E G H2074214150Cerebro-oculo-facio-skeletal syndrome214150C0220722OMIM11404993438609413
HP:0000639HP:0000639Nystagmus0ERCC6 CL E G H2074133540Cockayne syndrome B133540C0751038OMIM11404993438609413
HP:0000639HP:0000639Nystagmus0ERCC8 CL E G H1161216400Cockayne syndrome type A216400C0751039OMIM1701993439609412
HP:0000639HP:0000639Nystagmus0ERMARD CL E G H5578075857ORPHA1214521056615532
HP:0000639HP:0000639Nystagmus0EXOSC3 CL E G H51010614678Pontocerebellar hypoplasia, type 1b614678C3553449OMIM11914017944606489
HP:0000639HP:0000639Nystagmus0EXOSC9 CL E G H5393618065PONTOCEREBELLAR HYPOPLASIA, TYPE 1D618065CN252648OMIM12229137606180
HP:0000639HP:0000639Nystagmus0EXT2 CL E G H213252022ORPHA12582753513608210
HP:0000639HP:0000639Nystagmus0EYS CL E G H346007791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1338106421555612424
HP:0000639HP:0000639Nystagmus0FA2H CL E G H79152612319Spastic paraplegia 35612319C3668943OMIM15419421197611026
HP:0000639HP:0000639Nystagmus0FAM161A CL E G H84140791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA12020725808613596
HP:0000639HP:0000639Nystagmus0FDXR CL E G H2232617717AUDITORY NEUROPATHY AND OPTIC ATROPHY617717C4521678OMIM119453642103270
HP:0000639HP:0000639Nystagmus0FGFR1 CL E G H22603157Lachiewicz Sibley syndromeORPHA12653883688136350
HP:0000639HP:0000639Nystagmus0FGFRL1 CL E G H538341941904p partial monosomy syndrome194190C1956097OMIM171993693605830
HP:0000639HP:0000639Nystagmus0FMR1 CL E G H2332300623Fragile X tremor/ataxia syndrome300623C1839780OMIM1812813775309550
HP:0000639HP:0000639Nystagmus0FOXC1 CL E G H2296250923ORPHA11392153800601090
HP:0000639HP:0000639Nystagmus0FOXE3 CL E G H2301610256Congenital primary aphakia610256C1853230OMIM131863808601094
HP:0000639HP:0000639Nystagmus0FOXL2 CL E G H668110100Blepharophimosis, ptosis, and epicanthus inversus110100C0220663OMIM12241661092605597
HP:0000639HP:0000639Nystagmus0FOXP1 CL E G H27086613670Mental retardation with language impairment and with or without autistic features613670C3150923OMIM1762413823605515
HP:0000639HP:0000639Nystagmus0FOXRED1 CL E G H55572255241ORPHA1818326927613622
HP:0000639HP:0000639Nystagmus0FRMPD4 CL E G H9758300983Mental retardation, X-linked 104300983C4310817OMIM1626529007300838
HP:0000639HP:0000639Nystagmus0FSCN2 CL E G H25794791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1151673960607643
HP:0000639HP:0000639Nystagmus0FXN CL E G H239595ORPHA1661013951606829
HP:0000639HP:0000639Nystagmus0FXN CL E G H2395229300Friedreich ataxia 1229300C1856689OMIM1661013951606829
HP:0000639HP:0000639Nystagmus0GALC CL E G H2581245200Galactosylceramide beta-galactosidase deficiency245200C0023521OMIM12514624115606890
HP:0000639HP:0000639Nystagmus0GAN CL E G H8139256850Giant axonal neuropathy256850C1850386OMIM1804354137605379
HP:0000639HP:0000639Nystagmus0GBA2 CL E G H57704352641ORPHA12319418986609471
HP:0000639HP:0000639Nystagmus0GBA2 CL E G H57704614409Spastic paraplegia 46, autosomal recessive614409C2828721OMIM12319418986609471
HP:0000639HP:0000639Nystagmus0GDF3 CL E G H9573613703Microphthalmia, isolated, with coloboma 6613703C3150968OMIM16664218606522
HP:0000639HP:0000639Nystagmus0GDF6 CL E G H39225565ORPHA1211654221601147
HP:0000639HP:0000639Nystagmus0GDF6 CL E G H392255613703Microphthalmia, isolated, with coloboma 6613703C3150968OMIM1211654221601147
HP:0000639HP:0000639Nystagmus0GFM1 CL E G H85476609060Combined oxidative phosphorylation deficiency 1609060C1836797OMIM11921813780606639
HP:0000639HP:0000639Nystagmus0GJB1 CL E G H27051175CDK4 linked melanomaORPHA14996684283304040
HP:0000639HP:0000639Nystagmus0GLRX5 CL E G H51218401866ORPHA164720134609588
HP:0000639HP:0000639Nystagmus0GLRX5 CL E G H51218616859Spasticity, childhood-onset, with hyperglycinemia616859C4225178OMIM164720134609588
HP:0000639HP:0000639Nystagmus0GNAS CL E G H277894089ORPHA12792164392139320
HP:0000639HP:0000639Nystagmus0GNAS CL E G H277879443ORPHA12792164392139320
HP:0000639HP:0000639Nystagmus0GNAS CL E G H277879444ORPHA12792164392139320
HP:0000639HP:0000639Nystagmus0GNAS CL E G H2778103580Pseudohypoparathyroidism103580C0033806OMIM12792164392139320
HP:0000639HP:0000639Nystagmus0GNAS CL E G H2778612462Pseudohypoparathyroidism type 1C612462C2932716OMIM12792164392139320
HP:0000639HP:0000639Nystagmus0GNAS CL E G H2778612463Pseudopseudohypoparathyroidism612463C0033835OMIM12792164392139320
HP:0000639HP:0000639Nystagmus0GNAT2 CL E G H2780613856Achromatopsia 4613856C1841721OMIM116914394139340
HP:0000639HP:0000639Nystagmus0GNB1 CL E G H2782616973Mental retardation, autosomal dominant 42616973C4310774OMIM1241844396139380
HP:0000639HP:0000639Nystagmus0GNB5 CL E G H10681617173Intellectual developmental disorder with cardiac arrhythmia617173C4310682OMIM110474401604447
HP:0000639HP:0000639Nystagmus0GPAA1 CL E G H8733617810GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15617810C4540520OMIM111774446603048
HP:0000639HP:0000639Nystagmus0GPR143 CL E G H493554ORPHA118126120145300808
HP:0000639HP:0000639Nystagmus0GPR179 CL E G H440435614565Congenital stationary night blindness, type 1E614565C3281215OMIM11623131371614515
HP:0000639HP:0000639Nystagmus0GRIA4 CL E G H2893617864NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT SEIZURES AND GAIT ABNORMALITIES617864CN800195OMIM15334574138246
HP:0000639HP:0000639Nystagmus0GRID2 CL E G H2895616204Spinocerebellar ataxia, autosomal recessive 18616204C4015505OMIM1211074576602368
HP:0000639HP:0000639Nystagmus0GUCA1B CL E G H2979791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA171074679602275
HP:0000639HP:0000639Nystagmus0GUCY2D CL E G H300065ORPHA12433884689600179
HP:0000639HP:0000639Nystagmus0GUCY2D CL E G H3000601777Cone-rod dystrophy 6601777C1866293OMIM12433884689600179
HP:0000639HP:0000639Nystagmus0GUCY2D CL E G H3000204000Leber congenital amaurosis 1204000C2931258OMIM12433884689600179
HP:0000639HP:0000639Nystagmus0HECW2 CL E G H57520617268Neurodevelopmental disorder with hypotonia, seizures, and absent language617268C4310643OMIM11014029853617245
HP:0000639HP:0000639Nystagmus0HESX1 CL E G H88203157Lachiewicz Sibley syndromeORPHA127464877601802
HP:0000639HP:0000639Nystagmus0HGSNAT CL E G H138050791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA17237126527610453
HP:0000639HP:0000639Nystagmus0HIBCH CL E G H26275250620Beta-hydroxyisobutyryl-CoA deacylase deficiency250620C0342738OMIM119934908610690
HP:0000639HP:0000639Nystagmus0HIKESHI CL E G H51501616881Leukodystrophy, hypomyelinating, 13616881C4225170OMIM123326938614908
HP:0000639HP:0000639Nystagmus0HMX1 CL E G H3166612109Oculoauricular syndrome612109C2677500OMIM141055017142992
HP:0000639HP:0000639Nystagmus0HPS1 CL E G H3257203300Hermansky-Pudlak syndrome 1203300C2931875OMIM1552345163604982
HP:0000639HP:0000639Nystagmus0HPS3 CL E G H84343614072Hermansky-Pudlak syndrome 3614072C3888001OMIM11721415597606118
HP:0000639HP:0000639Nystagmus0HPS6 CL E G H79803614075Hermansky-Pudlak syndrome 6614075C3888007OMIM13710618817607522
HP:0000639HP:0000639Nystagmus0HSD17B10 CL E G H30283004382-methyl-3-hydroxybutyric aciduria300438C3266731OMIM1171794800300256
HP:0000639HP:0000639Nystagmus0HSD17B4 CL E G H3295261515Bifunctional peroxisomal enzyme deficiency261515C0342870OMIM11013055213601860
HP:0000639HP:0000639Nystagmus0HSD17B4 CL E G H3295233400Perrault syndrome 1233400OMIM11013055213601860
HP:0000639HP:0000639Nystagmus0HSPD1 CL E G H3329612233Leukodystrophy, hypomyelinating, 4612233C2677109OMIM161285261118190
HP:0000639HP:0000639Nystagmus0HYLS1 CL E G H219844475Acquired hypoprothrombinemiaORPHA1212226558610693
HP:0000639HP:0000639Nystagmus0IARS2 CL E G H55699616007Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia616007C4014942OMIM1911429685612801
HP:0000639HP:0000639Nystagmus0IBA57 CL E G H200205615330Multiple mitochondrial dysfunctions syndrome 3615330C3809165OMIM12311327302615316
HP:0000639HP:0000639Nystagmus0IDH3B CL E G H3420791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA141025385604526
HP:0000639HP:0000639Nystagmus0IFT122 CL E G H55764218330Cranioectodermal dysplasia 1218330C0432235OMIM12319913556606045
HP:0000639HP:0000639Nystagmus0IFT140 CL E G H974265ORPHA17253029077614620
HP:0000639HP:0000639Nystagmus0IFT140 CL E G H9742791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA17253029077614620
HP:0000639HP:0000639Nystagmus0IFT140 CL E G H9742266920Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia266920C1849437OMIM17253029077614620
HP:0000639HP:0000639Nystagmus0IFT172 CL E G H26160110ORPHA12726930391607386
HP:0000639HP:0000639Nystagmus0IFT172 CL E G H26160791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA12726930391607386
HP:0000639HP:0000639Nystagmus0IFT27 CL E G H11020110ORPHA145218626615870
HP:0000639HP:0000639Nystagmus0IFT88 CL E G H8100791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA165520606600595
HP:0000639HP:0000639Nystagmus0IGBP1 CL E G H347652055ORPHA121425461300139
HP:0000639HP:0000639Nystagmus0IMPDH1 CL E G H361465ORPHA1241986052146690
HP:0000639HP:0000639Nystagmus0IMPDH1 CL E G H3614791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1241986052146690
HP:0000639HP:0000639Nystagmus0IMPDH1 CL E G H3614613837Leber congenital amaurosis 11613837C1840284OMIM1241986052146690
HP:0000639HP:0000639Nystagmus0IMPG2 CL E G H50939791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA14234618362607056
HP:0000639HP:0000639Nystagmus0INPP5E CL E G H56623220493ORPHA15432521474613037
HP:0000639HP:0000639Nystagmus0INPP5E CL E G H56623475Acquired hypoprothrombinemiaORPHA15432521474613037
HP:0000639HP:0000639Nystagmus0INPP5E CL E G H566231454Common atrioventricular canalC0221215ORPHA15432521474613037
HP:0000639HP:0000639Nystagmus0INPP5K CL E G H51763559ORPHA11013633882607875
HP:0000639HP:0000639Nystagmus0IQCB1 CL E G H965765ORPHA14315528949609237
HP:0000639HP:0000639Nystagmus0IRF2BPL CL E G H64207618088NEURODEVELOPMENTAL DISORDER WITH REGRESSION, ABNORMAL MOVEMENTS, LOSS OF SPEECH, AND SEIZURES618088CN252701OMIM1114514282611720
HP:0000639HP:0000639Nystagmus0ISCA2 CL E G H122961616370Multiple mitochondrial dysfunctions syndrome 4616370C4225348OMIM132919857615317
HP:0000639HP:0000639Nystagmus0ITPR1 CL E G H3708208513ORPHA1955016180147265
HP:0000639HP:0000639Nystagmus0ITPR1 CL E G H3708206700Gillespie syndrome206700C0431401OMIM1955016180147265
HP:0000639HP:0000639Nystagmus0ITPR1 CL E G H3708117360Spinocerebellar ataxia 29117360C1861732OMIM1955016180147265
HP:0000639HP:0000639Nystagmus0KCNC3 CL E G H374898768ORPHA112946235176264
HP:0000639HP:0000639Nystagmus0KCNC3 CL E G H3748605259Spinocerebellar ataxia 13605259C1854488OMIM112946235176264
HP:0000639HP:0000639Nystagmus0KCNJ13 CL E G H376965ORPHA1101096259603208
HP:0000639HP:0000639Nystagmus0KCNJ13 CL E G H3769614186Leber congenital amaurosis 16614186C3280062OMIM1101096259603208
HP:0000639HP:0000639Nystagmus0KIAA0556 CL E G H23247475Acquired hypoprothrombinemiaORPHA1229068616650
HP:0000639HP:0000639Nystagmus0KIAA0556 CL E G H23247616784Joubert syndrome 26616784C4084843OMIM1229068616650
HP:0000639HP:0000639Nystagmus0KIAA0586 CL E G H9786475Acquired hypoprothrombinemiaORPHA13115519960610178
HP:0000639HP:0000639Nystagmus0KIAA0753 CL E G H98512754ORPHA176529110617112
HP:0000639HP:0000639Nystagmus0KIAA1549 CL E G H57670791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1927322219613344
HP:0000639HP:0000639Nystagmus0KIDINS220 CL E G H57498521390ORPHA1158429508615759
HP:0000639HP:0000639Nystagmus0KIDINS220 CL E G H57498617296Spastic paraplegia, intellectual disability, nystagmus, and obesity617296C4284592OMIM1158429508615759
HP:0000639HP:0000639Nystagmus0KIF11 CL E G H3832152950Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation152950C1835265OMIM1701726388148760
HP:0000639HP:0000639Nystagmus0KIF5A CL E G H3798617235Myoclonus, intractable, neonatal617235C4310658OMIM1692496323602821
HP:0000639HP:0000639Nystagmus0KIF7 CL E G H3746542754ORPHA14538630497611254
HP:0000639HP:0000639Nystagmus0KIZ CL E G H55857791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA148615865615757
HP:0000639HP:0000639Nystagmus0KLC2 CL E G H64837609541Spastic paraplegia, optic atrophy, and neuropathy609541C1836010OMIM132520716611729
HP:0000639HP:0000639Nystagmus0KLHL7 CL E G H55975791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11412715646611119
HP:0000639HP:0000639Nystagmus0KRAS CL E G H38451340Chromosome 4, monosomy 4qC0265404ORPHA1452746407190070
HP:0000639HP:0000639Nystagmus0L2HGDH CL E G H79944236792L-2-hydroxyglutaric aciduria236792C1855995OMIM1818720499609584
HP:0000639HP:0000639Nystagmus0LAGE3 CL E G H8270301006GALLOWAY-MOWAT SYNDROME 2, X-LINKED301006C4538784OMIM1321926058300060
HP:0000639HP:0000639Nystagmus0LAMA1 CL E G H284217615960Poretti-Boltshauser syndrome615960C4014821OMIM1433496481150320
HP:0000639HP:0000639Nystagmus0LAMB2 CL E G H3913614199Nephrotic syndrome, type 5, with or without ocular abnormalities614199C3280113OMIM11273686487150325
HP:0000639HP:0000639Nystagmus0LCA5 CL E G H16769165ORPHA14924631923611408
HP:0000639HP:0000639Nystagmus0LCA5 CL E G H167691604537Leber congenital amaurosis 5604537C1858301OMIM14924631923611408
HP:0000639HP:0000639Nystagmus0LETM1 CL E G H39541941904p partial monosomy syndrome194190C1956097OMIM141756556604407
HP:0000639HP:0000639Nystagmus0LIM2 CL E G H3982615277Cataract 19, multiple types615277C3809004OMIM14596610154045
HP:0000639HP:0000639Nystagmus0LIPT1 CL E G H51601255241ORPHA195429569610284
HP:0000639HP:0000639Nystagmus0LMNB1 CL E G H400199027ORPHA1351026637150340
HP:0000639HP:0000639Nystagmus0LMNB1 CL E G H4001169500Leukodystrophy, adult-onset, autosomal dominant169500C1868512OMIM1351026637150340
HP:0000639HP:0000639Nystagmus0LRAT CL E G H922765ORPHA1241586685604863
HP:0000639HP:0000639Nystagmus0LRAT CL E G H9227791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1241586685604863
HP:0000639HP:0000639Nystagmus0LRAT CL E G H9227613341Leber congenital amaurosis 14613341C2750063OMIM1241586685604863
HP:0000639HP:0000639Nystagmus0LRMDA CL E G H83938615179Albinism, oculocutaneous, type VII615179C3808786OMIM1112723405614537
HP:0000639HP:0000639Nystagmus0LYRM7 CL E G H90624615838Mitochondrial complex III deficiency, nuclear type 8615838C4014440OMIM194128072615831
HP:0000639HP:0000639Nystagmus0LYST CL E G H1130167ORPHA11028071968606897
HP:0000639HP:0000639Nystagmus0LYST CL E G H1130214500Chédiak-Higashi syndrome214500C0007965OMIM11028071968606897
HP:0000639HP:0000639Nystagmus0LZTFL1 CL E G H54585110ORPHA13406741606568
HP:0000639HP:0000639Nystagmus0MAB21L2 CL E G H10586615877Microphthalmia/coloboma and skeletal dysplasia syndrome615877C4014540OMIM19426758604357
HP:0000639HP:0000639Nystagmus0MAG CL E G H4099459056ORPHA14896783159460
HP:0000639HP:0000639Nystagmus0MAG CL E G H4099616680Spastic paraplegia 75, autosomal recessive616680C4225250OMIM14896783159460
HP:0000639HP:0000639Nystagmus0MAK CL E G H4117791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1241416816154235
HP:0000639HP:0000639Nystagmus0MAN2B1 CL E G H4125248500Deficiency of alpha-mannosidase248500C0024748OMIM11513936826609458
HP:0000639HP:0000639Nystagmus0MAP2K1 CL E G H5604615279Cardiofaciocutaneous syndrome 3615279C3809006OMIM1232136840176872
HP:0000639HP:0000639Nystagmus0MAP2K1 CL E G H56041340Chromosome 4, monosomy 4qC0265404ORPHA1232136840176872
HP:0000639HP:0000639Nystagmus0MAP2K2 CL E G H5605615280Cardiofaciocutaneous syndrome 4615280C3809007OMIM1353386842601263
HP:0000639HP:0000639Nystagmus0MAP2K2 CL E G H56051340Chromosome 4, monosomy 4qC0265404ORPHA1353386842601263
HP:0000639HP:0000639Nystagmus0MC1R CL E G H415779432ORPHA11093326929155555
HP:0000639HP:0000639Nystagmus0MCOLN1 CL E G H57192578Akesson syndromeORPHA13622813356605248
HP:0000639HP:0000639Nystagmus0MECR CL E G H51102617282Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities617282C4310634OMIM163219691608205
HP:0000639HP:0000639Nystagmus0MERTK CL E G H10461791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1893177027604705
HP:0000639HP:0000639Nystagmus0MICOS13 CL E G H12598867047ORPHA11833702616658
HP:0000639HP:0000639Nystagmus0MITF CL E G H4286103470Albinism, ocular, with sensorineural deafness103470C1863198OMIM1612407105156845
HP:0000639HP:0000639Nystagmus0MKKS CL E G H8195110ORPHA1601947108604896
HP:0000639HP:0000639Nystagmus0MKS1 CL E G H54903110ORPHA1523347121609883
HP:0000639HP:0000639Nystagmus0MKS1 CL E G H54903220493ORPHA1523347121609883
HP:0000639HP:0000639Nystagmus0MKS1 CL E G H54903475Acquired hypoprothrombinemiaORPHA1523347121609883
HP:0000639HP:0000639Nystagmus0MKS1 CL E G H54903617121Joubert syndrome 28617121C4310705OMIM1523347121609883
HP:0000639HP:0000639Nystagmus0MMACHC CL E G H25974277400Methylmalonic acidemia with homocystinuria277400C1848561OMIM19527424525609831
HP:0000639HP:0000639Nystagmus0MMADHC CL E G H27249277410Methylmalonic acidemia with homocystinuria cblD277410C1848552OMIM11411425221611935
HP:0000639HP:0000639Nystagmus0MOCS1 CL E G H4337252150Molybdenum cofactor deficiency, complementation group A252150C1854988OMIM1351817190603707
HP:0000639HP:0000639Nystagmus0MOCS2 CL E G H4338252160Molybdenum cofactor deficiency, complementation group B252160C1854989OMIM1161187193603708
HP:0000639HP:0000639Nystagmus0MPDU1 CL E G H9526609180Congenital disorder of glycosylation type 1F609180C1836669OMIM17857207604041
HP:0000639HP:0000639Nystagmus0MPV17 CL E G H4358256810Navajo neurohepatopathy256810C1850406OMIM1501247224137960
HP:0000639HP:0000639Nystagmus0MRPS34 CL E G H65993617664COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 32617664C4540029OMIM145816618611994
HP:0000639HP:0000639Nystagmus0MT-ATP6 CL E G H4508644ORPHA17414516060
HP:0000639HP:0000639Nystagmus0MT-ATP6 CL E G H4508551500Neuropathy ataxia retinitis pigmentosa syndrome551500C1328349OMIM17414516060
HP:0000639HP:0000639Nystagmus0MTFMT CL E G H123263255241ORPHA1177629666611766
HP:0000639HP:0000639Nystagmus0MTPAP CL E G H55149254343ORPHA127625532613669
HP:0000639HP:0000639Nystagmus0MTPAP CL E G H55149613672Ataxia, spastic, 4, autosomal recessive613672C3150925OMIM127625532613669
HP:0000639HP:0000639Nystagmus0MTRR CL E G H45522169Epilepsy with myoclono-astatic crisisORPHA1363287473602568
HP:0000639HP:0000639Nystagmus0MVK CL E G H4598610377Mevalonic aciduria610377C1959626OMIM11832777530251170
HP:0000639HP:0000639Nystagmus0MYO5A CL E G H464479476ORPHA1121167602160777
HP:0000639HP:0000639Nystagmus0MYO9A CL E G H4649618198MYASTHENIC SYNDROME, CONGENITAL, 24, PRESYNAPTIC618198OMIM16957608604875
HP:0000639HP:0000639Nystagmus0NADK2 CL E G H133686431361ORPHA137026404615787
HP:0000639HP:0000639Nystagmus0NADK2 CL E G H1336866160342,4-Dienoyl-CoA reductase deficiency616034C1857252OMIM137026404615787
HP:0000639HP:0000639Nystagmus0NAGA CL E G H466879279ORPHA1111307631104170
HP:0000639HP:0000639Nystagmus0NAGA CL E G H4668609241Schindler disease, type 1609241C1836544OMIM1111307631104170
HP:0000639HP:0000639Nystagmus0NALCN CL E G H259232615419Hypotonia, infantile, with psychomotor retardation and characteristic facies 1615419C3809454OMIM16524719082611549
HP:0000639HP:0000639Nystagmus0NANS CL E G H54187610442Spondyloepimetaphyseal dysplasia Genevieve type610442C1864872OMIM1126119237605202
HP:0000639HP:0000639Nystagmus0NARS2 CL E G H79731616239Combined oxidative phosphorylation deficiency 24616239C4015643OMIM1149626274612803
HP:0000639HP:0000639Nystagmus0NAXE CL E G H128240617186Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy617186C4310675OMIM1103118453608862
HP:0000639HP:0000639Nystagmus0NDP CL E G H4693649ORPHA11672077678300658
HP:0000639HP:0000639Nystagmus0NDUFA10 CL E G H4705255241ORPHA163027684603835
HP:0000639HP:0000639Nystagmus0NDUFA11 CL E G H126328618236MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 14618236OMIM115820371612638
HP:0000639HP:0000639Nystagmus0NDUFA12 CL E G H55967255241ORPHA143123987614530
HP:0000639HP:0000639Nystagmus0NDUFA13 CL E G H51079255241ORPHA131617194609435
HP:0000639HP:0000639Nystagmus0NDUFA2 CL E G H4695255241ORPHA14487685602137
HP:0000639HP:0000639Nystagmus0NDUFA4 CL E G H4697255241ORPHA12557687603833
HP:0000639HP:0000639Nystagmus0NDUFA9 CL E G H4704255241ORPHA131167693603834
HP:0000639HP:0000639Nystagmus0NDUFAF2 CL E G H91942255241ORPHA188728086609653
HP:0000639HP:0000639Nystagmus0NDUFAF4 CL E G H29078618237MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 15618237OMIM139221034611776
HP:0000639HP:0000639Nystagmus0NDUFAF5 CL E G H79133255241ORPHA11212115899612360
HP:0000639HP:0000639Nystagmus0NDUFAF5 CL E G H79133618238MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 16618238OMIM11212115899612360
HP:0000639HP:0000639Nystagmus0NDUFAF6 CL E G H137682255241ORPHA11011328625612392
HP:0000639HP:0000639Nystagmus0NDUFB11 CL E G H54539300952Linear skin defects with multiple congenital anomalies 3300952C4225421OMIM1616320372300403
HP:0000639HP:0000639Nystagmus0NDUFS1 CL E G H4719255241ORPHA1281927707157655
HP:0000639HP:0000639Nystagmus0NDUFS1 CL E G H4719618226MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 5618226OMIM1281927707157655
HP:0000639HP:0000639Nystagmus0NDUFS2 CL E G H4720255241ORPHA1241167708602985
HP:0000639HP:0000639Nystagmus0NDUFS2 CL E G H4720618228MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 6618228OMIM1241167708602985
HP:0000639HP:0000639Nystagmus0NDUFS3 CL E G H4722255241ORPHA13587710603846
HP:0000639HP:0000639Nystagmus0NDUFS4 CL E G H4724255241ORPHA117697711602694
HP:0000639HP:0000639Nystagmus0NDUFS4 CL E G H4724252010Mitochondrial complex I deficiency252010C1838979OMIM117697711602694
HP:0000639HP:0000639Nystagmus0NDUFS6 CL E G H4726618232MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 9618232OMIM171797713603848
HP:0000639HP:0000639Nystagmus0NDUFS7 CL E G H374291255241ORPHA18927714601825
HP:0000639HP:0000639Nystagmus0NDUFS8 CL E G H4728255241ORPHA113667715602141
HP:0000639HP:0000639Nystagmus0NDUFV1 CL E G H4723255241ORPHA1361447716161015
HP:0000639HP:0000639Nystagmus0NDUFV2 CL E G H4729255241ORPHA181357717600532
HP:0000639HP:0000639Nystagmus0NDUFV2 CL E G H4729618229MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 7618229OMIM181357717600532
HP:0000639HP:0000639Nystagmus0NEFL CL E G H4747617882CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE G617882CN847583OMIM1443767739162280
HP:0000639HP:0000639Nystagmus0NEK2 CL E G H4751791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11287745604043
HP:0000639HP:0000639Nystagmus0NEU1 CL E G H4758812ORPHA1641027758608272
HP:0000639HP:0000639Nystagmus0NEU1 CL E G H4758256550Sialidosis, type II256550C0268226OMIM1641027758608272
HP:0000639HP:0000639Nystagmus0NFIX CL E G H4784614753Sotos syndrome 2614753C3553660OMIM11041547788164005
HP:0000639HP:0000639Nystagmus0NHS CL E G H4810627ORPHA1523537820300457
HP:0000639HP:0000639Nystagmus0NHS CL E G H4810302350Nance-Horan syndrome302350C0796085OMIM1523537820300457
HP:0000639HP:0000639Nystagmus0NIPBL CL E G H25836122470Cornelia de Lange syndrome 1122470CN029798OMIM143780928862608667
HP:0000639HP:0000639Nystagmus0NKX6-2 CL E G H84504527497ORPHA1910419321605955
HP:0000639HP:0000639Nystagmus0NKX6-2 CL E G H84504617560SPASTIC ATAXIA 8, AUTOSOMAL RECESSIVE, WITH HYPOMYELINATING LEUKODYSTROPHY617560C4479653OMIM1910419321605955
HP:0000639HP:0000639Nystagmus0NMNAT1 CL E G H6480265ORPHA17611217877608700
HP:0000639HP:0000639Nystagmus0NMNAT1 CL E G H64802608553Leber congenital amaurosis 9608553C1837873OMIM17611217877608700
HP:0000639HP:0000639Nystagmus0NPHP1 CL E G H4867110ORPHA1794037905607100
HP:0000639HP:0000639Nystagmus0NPHP1 CL E G H4867220497ORPHA1794037905607100
HP:0000639HP:0000639Nystagmus0NPHP1 CL E G H4867609583Joubert syndrome 4609583C1846790OMIM1794037905607100
HP:0000639HP:0000639Nystagmus0NR2E3 CL E G H10002791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1802267974604485
HP:0000639HP:0000639Nystagmus0NR2F1 CL E G H7025615722Bosch-Boonstra-Schaaf optic atrophy syndrome615722C3810363OMIM1341237975132890
HP:0000639HP:0000639Nystagmus0NRL CL E G H4901791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1251338002162080
HP:0000639HP:0000639Nystagmus0NSD1 CL E G H64324117550Sotos syndrome 1117550CN035106OMIM152589614234606681
HP:0000639HP:0000639Nystagmus0NSD2 CL E G H74681941904p partial monosomy syndrome194190C1956097OMIM11422012766602952
HP:0000639HP:0000639Nystagmus0NT5C2 CL E G H22978613162Spastic paraplegia 45, autosomal recessive613162C3888209OMIM181008022600417
HP:0000639HP:0000639Nystagmus0NTRK2 CL E G H4915617830EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 58617830CN757795OMIM113708032600456
HP:0000639HP:0000639Nystagmus0NUBPL CL E G H80224618242MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 21618242OMIM11418820278613621
HP:0000639HP:0000639Nystagmus0OCA2 CL E G H494879432ORPHA13165388101611409
HP:0000639HP:0000639Nystagmus0OCA2 CL E G H4948203200Tyrosinase-positive oculocutaneous albinism203200C0268495OMIM13165388101611409
HP:0000639HP:0000639Nystagmus0OCLN CL E G H100506658251290Band-like calcification with simplified gyration and polymicrogyria251290C3489725OMIM120618104602876
HP:0000639HP:0000639Nystagmus0OCRL CL E G H4952534Acute myeloblastic leukemia without maturationORPHA12643428108300535
HP:0000639HP:0000639Nystagmus0OFD1 CL E G H84812754ORPHA11625102567300170
HP:0000639HP:0000639Nystagmus0OFD1 CL E G H8481791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11625102567300170
HP:0000639HP:0000639Nystagmus0OGT CL E G H8473300997MENTAL RETARDATION, X-LINKED 106300997C4478379OMIM171478127300255
HP:0000639HP:0000639Nystagmus0OPA1 CL E G H4976210000Abortive cerebellar ataxia210000C0221061OMIM13944418140605290
HP:0000639HP:0000639Nystagmus0OPA3 CL E G H8020767047ORPHA1153188142606580
HP:0000639HP:0000639Nystagmus0OPA3 CL E G H8020767036ORPHA1153188142606580
HP:0000639HP:0000639Nystagmus0OPHN1 CL E G H4983300486Mental retardation X-linked with cerebellar hypoplasia and distinctive facial appearance300486C1845366OMIM1432458148300127
HP:0000639HP:0000639Nystagmus0OPN1LW CL E G H5956303700Cone monochromatism303700C0339537OMIM1632509936300822
HP:0000639HP:0000639Nystagmus0OPN1MW CL E G H2652303700Cone monochromatism303700C0339537OMIM1212404206300821
HP:0000639HP:0000639Nystagmus0OTX2 CL E G H50153157Lachiewicz Sibley syndromeORPHA178988522600037
HP:0000639HP:0000639Nystagmus0PACS1 CL E G H55690615009Schuurs-hoeijmakers syndrome615009C3554343OMIM129130032607492
HP:0000639HP:0000639Nystagmus0PACS2 CL E G H23241618067EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 66618067CN252658OMIM129223794610423
HP:0000639HP:0000639Nystagmus0PAX6 CL E G H50802253ORPHA15714968620607108
HP:0000639HP:0000639Nystagmus0PAX6 CL E G H5080893ORPHA15714968620607108
HP:0000639HP:0000639Nystagmus0PAX6 CL E G H5080250923ORPHA15714968620607108
HP:0000639HP:0000639Nystagmus0PAX6 CL E G H5080106210Aniridia 1106210C0344542OMIM15714968620607108
HP:0000639HP:0000639Nystagmus0PAX6 CL E G H5080120200Congenital ocular coloboma120200C0009363OMIM15714968620607108
HP:0000639HP:0000639Nystagmus0PCARE CL E G H388939791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA15341834383613425
HP:0000639HP:0000639Nystagmus0PCYT1A CL E G H513085167ORPHA1201438754123695
HP:0000639HP:0000639Nystagmus0PCYT1A CL E G H513065ORPHA1201438754123695
HP:0000639HP:0000639Nystagmus0PCYT1A CL E G H5130608940Spondylometaphyseal dysplasia with cone-rod dystrophy608940C1837073OMIM1201438754123695
HP:0000639HP:0000639Nystagmus0PDE6A CL E G H5145791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1513438785180071
HP:0000639HP:0000639Nystagmus0PDE6B CL E G H5158791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11334748786180072
HP:0000639HP:0000639Nystagmus0PDE6C CL E G H5146613093Cone dystrophy 4613093C2751308OMIM1582208787600827
HP:0000639HP:0000639Nystagmus0PDE6D CL E G H51472754ORPHA11398788602676
HP:0000639HP:0000639Nystagmus0PDE6G CL E G H5148791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA12598789180073
HP:0000639HP:0000639Nystagmus0PDHA1 CL E G H5160255241ORPHA11934088806300502
HP:0000639HP:0000639Nystagmus0PDP1 CL E G H54704608782Pyruvate dehydrogenase phosphatase deficiency608782C1837429OMIM13729279605993
HP:0000639HP:0000639Nystagmus0PET100 CL E G H100131801255241ORPHA122840038614770
HP:0000639HP:0000639Nystagmus0PEX1 CL E G H5189772ORPHA11404898850602136
HP:0000639HP:0000639Nystagmus0PEX1 CL E G H5189912ORPHA11404898850602136
HP:0000639HP:0000639Nystagmus0PEX1 CL E G H518944MYBPC1-related conditionORPHA11404898850602136
HP:0000639HP:0000639Nystagmus0PEX1 CL E G H5189214100Zellweger syndrome214100C0043459OMIM11404898850602136
HP:0000639HP:0000639Nystagmus0PEX10 CL E G H5192912ORPHA1323478851602859
HP:0000639HP:0000639Nystagmus0PEX10 CL E G H5192772ORPHA1323478851602859
HP:0000639HP:0000639Nystagmus0PEX10 CL E G H519244MYBPC1-related conditionORPHA1323478851602859
HP:0000639HP:0000639Nystagmus0PEX10 CL E G H5192614871Peroxisome biogenesis disorder 6B614871C3553948OMIM1323478851602859
HP:0000639HP:0000639Nystagmus0PEX11B CL E G H8799772ORPHA182478853603867
HP:0000639HP:0000639Nystagmus0PEX11B CL E G H8799912ORPHA182478853603867
HP:0000639HP:0000639Nystagmus0PEX11B CL E G H879944MYBPC1-related conditionORPHA182478853603867
HP:0000639HP:0000639Nystagmus0PEX11B CL E G H8799614920Peroxisome biogenesis disorder 14B614920C3554055OMIM182478853603867
HP:0000639HP:0000639Nystagmus0PEX12 CL E G H5193772ORPHA1371818854601758
HP:0000639HP:0000639Nystagmus0PEX12 CL E G H5193912ORPHA1371818854601758
HP:0000639HP:0000639Nystagmus0PEX12 CL E G H519344MYBPC1-related conditionORPHA1371818854601758
HP:0000639HP:0000639Nystagmus0PEX13 CL E G H5194772ORPHA1101968855601789
HP:0000639HP:0000639Nystagmus0PEX13 CL E G H5194912ORPHA1101968855601789
HP:0000639HP:0000639Nystagmus0PEX13 CL E G H519444MYBPC1-related conditionORPHA1101968855601789
HP:0000639HP:0000639Nystagmus0PEX14 CL E G H5195772ORPHA151768856601791
HP:0000639HP:0000639Nystagmus0PEX14 CL E G H5195912ORPHA151768856601791
HP:0000639HP:0000639Nystagmus0PEX14 CL E G H519544MYBPC1-related conditionORPHA151768856601791
HP:0000639HP:0000639Nystagmus0PEX16 CL E G H9409772ORPHA1151498857603360
HP:0000639HP:0000639Nystagmus0PEX16 CL E G H9409912ORPHA1151498857603360
HP:0000639HP:0000639Nystagmus0PEX16 CL E G H940944MYBPC1-related conditionORPHA1151498857603360
HP:0000639HP:0000639Nystagmus0PEX16 CL E G H9409614877Peroxisome biogenesis disorder 8B614877C3553960OMIM1151498857603360
HP:0000639HP:0000639Nystagmus0PEX19 CL E G H5824772ORPHA141339713600279
HP:0000639HP:0000639Nystagmus0PEX19 CL E G H5824912ORPHA141339713600279
HP:0000639HP:0000639Nystagmus0PEX19 CL E G H582444MYBPC1-related conditionORPHA141339713600279
HP:0000639HP:0000639Nystagmus0PEX2 CL E G H5828772ORPHA1182089717170993
HP:0000639HP:0000639Nystagmus0PEX2 CL E G H5828912ORPHA1182089717170993
HP:0000639HP:0000639Nystagmus0PEX2 CL E G H582844MYBPC1-related conditionORPHA1182089717170993
HP:0000639HP:0000639Nystagmus0PEX2 CL E G H5828614867Peroxisome biogenesis disorder 5B614867C3542026OMIM1182089717170993
HP:0000639HP:0000639Nystagmus0PEX26 CL E G H55670912ORPHA12727722965608666
HP:0000639HP:0000639Nystagmus0PEX26 CL E G H55670772ORPHA12727722965608666
HP:0000639HP:0000639Nystagmus0PEX26 CL E G H5567044MYBPC1-related conditionORPHA12727722965608666
HP:0000639HP:0000639Nystagmus0PEX26 CL E G H55670614872Peroxisome biogenesis disorder 7A614872C3539168OMIM12727722965608666
HP:0000639HP:0000639Nystagmus0PEX3 CL E G H8504772ORPHA1101168858603164
HP:0000639HP:0000639Nystagmus0PEX3 CL E G H8504912ORPHA1101168858603164
HP:0000639HP:0000639Nystagmus0PEX3 CL E G H850444MYBPC1-related conditionORPHA1101168858603164
HP:0000639HP:0000639Nystagmus0PEX3 CL E G H8504617370Peroxisome biogenesis disorder 10b617370C4479254OMIM1101168858603164
HP:0000639HP:0000639Nystagmus0PEX5 CL E G H5830772ORPHA1142809719600414
HP:0000639HP:0000639Nystagmus0PEX5 CL E G H5830912ORPHA1142809719600414
HP:0000639HP:0000639Nystagmus0PEX5 CL E G H583044MYBPC1-related conditionORPHA1142809719600414
HP:0000639HP:0000639Nystagmus0PEX6 CL E G H5190912ORPHA11093758859601498
HP:0000639HP:0000639Nystagmus0PEX6 CL E G H519095433ORPHA11093758859601498
HP:0000639HP:0000639Nystagmus0PEX6 CL E G H5190772ORPHA11093758859601498
HP:0000639HP:0000639Nystagmus0PEX6 CL E G H519044MYBPC1-related conditionORPHA11093758859601498
HP:0000639HP:0000639Nystagmus0PEX6 CL E G H5190614863Peroxisome biogenesis disorder 4B614863C3553937OMIM11093758859601498
HP:0000639HP:0000639Nystagmus0PEX7 CL E G H5191266500Phytanic acid storage disease266500C0034960OMIM1531878860601757
HP:0000639HP:0000639Nystagmus0PHF21A CL E G H5131752022ORPHA1123524156608325
HP:0000639HP:0000639Nystagmus0PHF6 CL E G H84295301900Borjeson-Forssman-Lehmann syndrome301900C0265339OMIM12923518145300414
HP:0000639HP:0000639Nystagmus0PHGDH CL E G H26227601815Phosphoglycerate dehydrogenase deficiency601815C1866174OMIM1231458923606879
HP:0000639HP:0000639Nystagmus0PHIP CL E G H55023617991DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHIC FEATURES617991CN248510OMIM1297815673612870
HP:0000639HP:0000639Nystagmus0PHYH CL E G H5264266500Phytanic acid storage disease266500C0034960OMIM1371278940602026
HP:0000639HP:0000639Nystagmus0PIBF1 CL E G H10464475Acquired hypoprothrombinemiaORPHA188723352607532
HP:0000639HP:0000639Nystagmus0PIGN CL E G H23556614080Multiple congenital anomalies-hypotonia-seizures syndrome 1614080C3279775OMIM1344168967606097
HP:0000639HP:0000639Nystagmus0PIGT CL E G H51604615398Multiple congenital anomalies-hypotonia-seizures syndrome 3615398C3809356OMIM1127214938610272
HP:0000639HP:0000639Nystagmus0PIK3R5 CL E G H23533615217Ataxia-oculomotor apraxia 3615217C3554690OMIM123930035611317
HP:0000639HP:0000639Nystagmus0PLA2G6 CL E G H839835069ORPHA11792899039603604
HP:0000639HP:0000639Nystagmus0PLA2G6 CL E G H8398256600Infantile neuroaxonal dystrophy256600C0270724OMIM11792899039603604
HP:0000639HP:0000639Nystagmus0PLA2G6 CL E G H8398610217Neurodegeneration with brain iron accumulation 2b610217C1857747OMIM11792899039603604
HP:0000639HP:0000639Nystagmus0PLAA CL E G H9373617527NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MICROCEPHALY, SPASTICITY, AND BRAIN ANOMALIES617527C4479631OMIM13849043603873
HP:0000639HP:0000639Nystagmus0PLD3 CL E G H23646617770SPINOCEREBELLAR ATAXIA 46617770C4540404OMIM1211917158615698
HP:0000639HP:0000639Nystagmus0PLK4 CL E G H107332518ORPHA169411397605031
HP:0000639HP:0000639Nystagmus0PLP1 CL E G H5354312080Pelizaeus-Merzbacher disease312080C0205711OMIM13523009086300401
HP:0000639HP:0000639Nystagmus0PLP1 CL E G H5354312920Spastic paraplegia 2312920C1839264OMIM13523009086300401
HP:0000639HP:0000639Nystagmus0PMM2 CL E G H5373212065Carbohydrate-deficient glycoprotein syndrome type I212065C0349653OMIM11293639115601785
HP:0000639HP:0000639Nystagmus0PMPCA CL E G H232031170ORPHA189618667613036
HP:0000639HP:0000639Nystagmus0PNPLA6 CL E G H109081173CDG syndrome type 3ORPHA16137916268603197
HP:0000639HP:0000639Nystagmus0PNPLA6 CL E G H10908245800Laurence-Moon syndrome245800C0023138OMIM16137916268603197
HP:0000639HP:0000639Nystagmus0PNPLA6 CL E G H10908275400Trichomegaly with mental retardation, dwarfism and pigmentary degeneration of retina275400C1848745OMIM16137916268603197
HP:0000639HP:0000639Nystagmus0PNPT1 CL E G H87178614932Combined oxidative phosphorylation deficiency 13614932C3554129OMIM11616723166610316
HP:0000639HP:0000639Nystagmus0POLG CL E G H542870595ORPHA130011969179174763
HP:0000639HP:0000639Nystagmus0POLG CL E G H5428607459Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis607459C1843851OMIM130011969179174763
HP:0000639HP:0000639Nystagmus0POLR3A CL E G H11128447896ORPHA19230630074614258
HP:0000639HP:0000639Nystagmus0POLR3A CL E G H11128264090Neonatal pseudo-hydrocephalic progeroid syndrome264090C0406586OMIM19230630074614258
HP:0000639HP:0000639Nystagmus0POMGNT1 CL E G H55624791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA18946119139606822
HP:0000639HP:0000639Nystagmus0POMGNT1 CL E G H55624253280Muscle eye brain disease253280C0457133OMIM18946119139606822
HP:0000639HP:0000639Nystagmus0PORCN CL E G H64840305600Focal dermal hypoplasia305600C0016395OMIM112121017652300651
HP:0000639HP:0000639Nystagmus0PRCD CL E G H768206791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA179232528610598
HP:0000639HP:0000639Nystagmus0PRDX1 CL E G H5052277400Methylmalonic acidemia with homocystinuria277400C1848561OMIM13229352176763
HP:0000639HP:0000639Nystagmus0PRKCG CL E G H5582605361Spinocerebellar ataxia 14605361C1854369OMIM1521859402176980
HP:0000639HP:0000639Nystagmus0PRKD1 CL E G H5587617364Congenital heart defects and ectodermal dysplasia617364C4479250OMIM18659407605435
HP:0000639HP:0000639Nystagmus0PROKR2 CL E G H1286743157Lachiewicz Sibley syndromeORPHA1839815836607123
HP:0000639HP:0000639Nystagmus0PROM1 CL E G H8842791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1833409454604365
HP:0000639HP:0000639Nystagmus0PRPF3 CL E G H9129791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA177917348607301
HP:0000639HP:0000639Nystagmus0PRPF31 CL E G H26121791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA117523215446606419
HP:0000639HP:0000639Nystagmus0PRPF4 CL E G H9128791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA147317349607795
HP:0000639HP:0000639Nystagmus0PRPF6 CL E G H24148791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11117015860613979
HP:0000639HP:0000639Nystagmus0PRPF8 CL E G H10594791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA15333917340607300
HP:0000639HP:0000639Nystagmus0PRPH2 CL E G H5961791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11813449942179605
HP:0000639HP:0000639Nystagmus0PRPS1 CL E G H5631301835Arts syndrome301835C0796028OMIM1322599462311850
HP:0000639HP:0000639Nystagmus0PRRT2 CL E G H112476569ORPHA110550130500614386
HP:0000639HP:0000639Nystagmus0PRSS12 CL E G H8492249500Mental retardation, autosomal recessive 1249500C1855304OMIM111559477606709
HP:0000639HP:0000639Nystagmus0PSMD12 CL E G H5718617516Stankiewicz-Isidor syndrome617516C4479599OMIM110359557604450
HP:0000639HP:0000639Nystagmus0PURA CL E G H5813616158Mental retardation, autosomal dominant 31616158C4015357OMIM1482289701600473
HP:0000639HP:0000639Nystagmus0RAB11B CL E G H9230617807NEURODEVELOPMENTAL DISORDER WITH ATAXIC GAIT, ABSENT SPEECH, AND DECREASED CORTICAL WHITE MATTER617807C4540498OMIM12149761604198
HP:0000639HP:0000639Nystagmus0RAB18 CL E G H22931614222Warburg micro syndrome 3614222C3280203OMIM1515414244602207
HP:0000639HP:0000639Nystagmus0RARS CL E G H5917438114ORPHA1119870107820
HP:0000639HP:0000639Nystagmus0RARS CL E G H5917616140Leukodystrophy, hypomyelinating, 9616140C4015323OMIM1119870107820
HP:0000639HP:0000639Nystagmus0RBP3 CL E G H5949791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1183779921180290
HP:0000639HP:0000639Nystagmus0RD3 CL E G H34303565ORPHA11316419689180040
HP:0000639HP:0000639Nystagmus0RD3 CL E G H343035610612Leber congenital amaurosis 12610612C1857743OMIM11316419689180040
HP:0000639HP:0000639Nystagmus0RDH12 CL E G H14522665ORPHA110917819977608830
HP:0000639HP:0000639Nystagmus0RDH12 CL E G H145226791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA110917819977608830
HP:0000639HP:0000639Nystagmus0REEP6 CL E G H92840791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA186930078609346
HP:0000639HP:0000639Nystagmus0RGR CL E G H5995791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1111149990600342
HP:0000639HP:0000639Nystagmus0RHO CL E G H6010791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA121926710012180380
HP:0000639HP:0000639Nystagmus0RLBP1 CL E G H6017791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA13713910024180090
HP:0000639HP:0000639Nystagmus0RNASEH2C CL E G H84153610329Aicardi Goutieres syndrome 3610329C1835916OMIM11511224116610330
HP:0000639HP:0000639Nystagmus0RNF216 CL E G H544761173CDG syndrome type 3ORPHA11412421698609948
HP:0000639HP:0000639Nystagmus0RNU4ATAC CL E G H1001516831824Devriendt Legius Fryns syndromeORPHA1245634016601428
HP:0000639HP:0000639Nystagmus0ROBO3 CL E G H642212744ORPHA14521913433608630
HP:0000639HP:0000639Nystagmus0ROM1 CL E G H6094791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11811310254180721
HP:0000639HP:0000639Nystagmus0RORA CL E G H6095618060INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT EPILEPSY OR CEREBELLAR ATAXIA618060CN252646OMIM1153810258600825
HP:0000639HP:0000639Nystagmus0RP1 CL E G H6101791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA119045810263603937
HP:0000639HP:0000639Nystagmus0RP2 CL E G H6102791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA112128910274300757
HP:0000639HP:0000639Nystagmus0RP9 CL E G H6100791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA145010288607331
HP:0000639HP:0000639Nystagmus0RPE65 CL E G H612165ORPHA120832710294180069
HP:0000639HP:0000639Nystagmus0RPE65 CL E G H6121791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA120832710294180069
HP:0000639HP:0000639Nystagmus0RPE65 CL E G H6121613794Retinitis pigmentosa 20613794C3151086OMIM120832710294180069
HP:0000639HP:0000639Nystagmus0RPGR CL E G H6103791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA124566210295312610
HP:0000639HP:0000639Nystagmus0RPGR CL E G H6103304020Cone-rod dystrophy, X-linked 1304020C1844776OMIM124566210295312610
HP:0000639HP:0000639Nystagmus0RPGRIP1 CL E G H5709665ORPHA114936113436605446
HP:0000639HP:0000639Nystagmus0RPGRIP1L CL E G H23322220497ORPHA15143229168610937
HP:0000639HP:0000639Nystagmus0RPGRIP1L CL E G H23322216360COACH syndrome216360C1857662OMIM15143229168610937
HP:0000639HP:0000639Nystagmus0RPGRIP1L CL E G H233221454Common atrioventricular canalC0221215ORPHA15143229168610937
HP:0000639HP:0000639Nystagmus0RPGRIP1L CL E G H23322611560Joubert syndrome 7611560C1969053OMIM15143229168610937
HP:0000639HP:0000639Nystagmus0RPIA CL E G H22934608611Deficiency of ribose-5-phosphate isomerase608611C1291609OMIM176110297180430
HP:0000639HP:0000639Nystagmus0RUBCN CL E G H9711615705Spinocerebellar ataxia, autosomal recessive 15615705C3810326OMIM1410828991613516
HP:0000639HP:0000639Nystagmus0SACS CL E G H26278270550Spastic ataxia Charlevoix-Saguenay type270550C1849140OMIM1264119110519604490
HP:0000639HP:0000639Nystagmus0SAG CL E G H6295791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11613210521181031
HP:0000639HP:0000639Nystagmus0SALL2 CL E G H6297216820Ocular coloboma, autosomal recessive216820C4011974OMIM134110526602219
HP:0000639HP:0000639Nystagmus0SAMD9L CL E G H2192852585ORPHA119721349611170
HP:0000639HP:0000639Nystagmus0SAMD9L CL E G H219285159550Myelocerebellar disorder159550C1327919OMIM119721349611170
HP:0000639HP:0000639Nystagmus0SCAPER CL E G H49855791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA187113081611611
HP:0000639HP:0000639Nystagmus0SCN1A CL E G H6323569ORPHA11611217210585182389
HP:0000639HP:0000639Nystagmus0SDCCAG8 CL E G H10806110ORPHA11824910671613524
HP:0000639HP:0000639Nystagmus0SDHA CL E G H6389255241ORPHA191127910680600857
HP:0000639HP:0000639Nystagmus0SDHA CL E G H6389256000Leigh syndrome256000C0023264OMIM191127910680600857
HP:0000639HP:0000639Nystagmus0SDHA CL E G H6389252011Mitochondrial complex II deficiency252011C1855008OMIM191127910680600857
HP:0000639HP:0000639Nystagmus0SDHAF1 CL E G H644096252011Mitochondrial complex II deficiency252011C1855008OMIM164033867612848
HP:0000639HP:0000639Nystagmus0SDHD CL E G H6392252011Mitochondrial complex II deficiency252011C1855008OMIM117436110683602690
HP:0000639HP:0000639Nystagmus0SEMA3E CL E G H9723138ORPHA1416010727608166
HP:0000639HP:0000639Nystagmus0SEMA4A CL E G H64218791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11714010729607292
HP:0000639HP:0000639Nystagmus0SERPINI1 CL E G H5274604218Encephalopathy, familial, with neuroserpin inclusion bodies604218C1858680OMIM191258943602445
HP:0000639HP:0000639Nystagmus0SH3TC2 CL E G H79628601596Charcot-Marie-Tooth disease, type 4C601596C1866636OMIM1102109229427608206
HP:0000639HP:0000639Nystagmus0SIL1 CL E G H64374559ORPHA14916724624608005
HP:0000639HP:0000639Nystagmus0SIL1 CL E G H64374248800Marinesco-Sjögren syndrome248800C0024814OMIM14916724624608005
HP:0000639HP:0000639Nystagmus0SIN3A CL E G H25942613406Witteveen-kolk syndrome613406C3150674OMIM11611619353607776
HP:0000639HP:0000639Nystagmus0SIX6 CL E G H4990212550Cataract, microphthalmia and nystagmus212550C1859311OMIM1115910892606326
HP:0000639HP:0000639Nystagmus0SLC17A5 CL E G H26503604369Salla disease604369C1096903OMIM15519210933604322
HP:0000639HP:0000639Nystagmus0SLC17A5 CL E G H26503269920Sialic acid storage disease, severe infantile type269920C1096902OMIM15519210933604322
HP:0000639HP:0000639Nystagmus0SLC18A3 CL E G H6572617239Myasthenic syndrome, congenital, 21, presynaptic617239C4310654OMIM168910936600336
HP:0000639HP:0000639Nystagmus0SLC19A2 CL E G H10560249270Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness249270C0342287OMIM15113710938603941
HP:0000639HP:0000639Nystagmus0SLC19A3 CL E G H80704255241ORPHA13831816266606152
HP:0000639HP:0000639Nystagmus0SLC19A3 CL E G H80704607483Basal ganglia disease, biotin-responsive607483C1843807OMIM13831816266606152
HP:0000639HP:0000639Nystagmus0SLC24A5 CL E G H283652370097ORPHA1264020611609802
HP:0000639HP:0000639Nystagmus0SLC24A5 CL E G H283652113750Skin/hair/eye pigmentation, variation in, 4113750C2676042OMIM1264020611609802
HP:0000639HP:0000639Nystagmus0SLC25A24 CL E G H299572095ORPHA123520662608744
HP:0000639HP:0000639Nystagmus0SLC25A4 CL E G H2911369ORPHA11723410990103220
HP:0000639HP:0000639Nystagmus0SLC25A46 CL E G H91137616505NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB616505C4225302OMIM11717425198610826
HP:0000639HP:0000639Nystagmus0SLC29A3 CL E G H553151782ORPHA12619023096612373
HP:0000639HP:0000639Nystagmus0SLC2A1 CL E G H6513608885Stomatin-deficient cryohydrocytosis with neurologic defects608885C1837206OMIM128151611005138140
HP:0000639HP:0000639Nystagmus0SLC33A1 CL E G H9197614482Congenital cataracts, hearing loss, and neurodegeneration614482C3280965OMIM176095603690
HP:0000639HP:0000639Nystagmus0SLC35A1 CL E G H10559603585Congenital disorder of glycosylation type 2F603585C1970344OMIM157011021605634
HP:0000639HP:0000639Nystagmus0SLC35A2 CL E G H7355300896CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm300896C3806688OMIM11827311022314375
HP:0000639HP:0000639Nystagmus0SLC38A8 CL E G H146167609218Foveal hypoplasia 2609218C1836603OMIM11810932434615585
HP:0000639HP:0000639Nystagmus0SLC39A8 CL E G H64116616721CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIn616721C4225234OMIM173620862608732
HP:0000639HP:0000639Nystagmus0SLC45A2 CL E G H5115179435ORPHA116112416472606202
HP:0000639HP:0000639Nystagmus0SLC45A2 CL E G H51151606574Oculocutaneous albinism type 4606574C1847836OMIM116112416472606202
HP:0000639HP:0000639Nystagmus0SLC4A11 CL E G H839591490Congenital ichtyosiform erythrodermaORPHA19525016438610206
HP:0000639HP:0000639Nystagmus0SLC52A2 CL E G H7958195433ORPHA12726030224607882
HP:0000639HP:0000639Nystagmus0SLC6A19 CL E G H3400242116Encephalopathy-basal ganglia-calcificationORPHA12520827960608893
HP:0000639HP:0000639Nystagmus0SLC7A14 CL E G H57709791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1810929326615720
HP:0000639HP:0000639Nystagmus0SLC9A6 CL E G H1047985278ORPHA12835111079300231
HP:0000639HP:0000639Nystagmus0SMARCA4 CL E G H65971465ORPHA157247311100603254
HP:0000639HP:0000639Nystagmus0SMARCB1 CL E G H65981465ORPHA111948211103601607
HP:0000639HP:0000639Nystagmus0SMARCE1 CL E G H66051465ORPHA11328711109603111
HP:0000639HP:0000639Nystagmus0SNRNP200 CL E G H23020791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA13529930859601664
HP:0000639HP:0000639Nystagmus0SNX10 CL E G H29887667ORPHA1134614974614780
HP:0000639HP:0000639Nystagmus0SOST CL E G H50964269500Sclerosteosis 1269500CN032489OMIM1177013771605740
HP:0000639HP:0000639Nystagmus0SOX10 CL E G H6663163746ORPHA115119211190602229
HP:0000639HP:0000639Nystagmus0SOX10 CL E G H6663611584Waardenburg syndrome type 2E611584C2700405OMIM115119211190602229
HP:0000639HP:0000639Nystagmus0SOX11 CL E G H66641465ORPHA1147011191600898
HP:0000639HP:0000639Nystagmus0SOX2 CL E G H66573157Lachiewicz Sibley syndromeORPHA110510511195184429
HP:0000639HP:0000639Nystagmus0SOX3 CL E G H66583157Lachiewicz Sibley syndromeORPHA12821811199313430
HP:0000639HP:0000639Nystagmus0SPAST CL E G H6683182601Spastic paraplegia 4, autosomal dominant182601C1866855OMIM172757211233604277
HP:0000639HP:0000639Nystagmus0SPATA7 CL E G H5581265ORPHA13915220423609868
HP:0000639HP:0000639Nystagmus0SPATA7 CL E G H55812791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA13915220423609868
HP:0000639HP:0000639Nystagmus0SPG11 CL E G H802082822Hyperinsulinism, focalORPHA1293106511226610844
HP:0000639HP:0000639Nystagmus0SPG7 CL E G H668799013ORPHA111146011237602783
HP:0000639HP:0000639Nystagmus0SPG7 CL E G H6687607259Spastic paraplegia 7607259C1846564OMIM111146011237602783
HP:0000639HP:0000639Nystagmus0SQSTM1 CL E G H8878617145Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset617145C4310693OMIM19826711280601530
HP:0000639HP:0000639Nystagmus0SRD5A3 CL E G H79644612379Congenital disorder of glycosylation type 1Q612379C3150191OMIM11613925812611715
HP:0000639HP:0000639Nystagmus0STX16 CL E G H867594089ORPHA1615511431603666
HP:0000639HP:0000639Nystagmus0SURF1 CL E G H6834255241ORPHA112818911474185620
HP:0000639HP:0000639Nystagmus0SURF1 CL E G H6834256000Leigh syndrome256000C0023264OMIM112818911474185620
HP:0000639HP:0000639Nystagmus0SYNE1 CL E G H23345610743Spinocerebellar ataxia, autosomal recessive 8610743C1853116OMIM1144283817089608441
HP:0000639HP:0000639Nystagmus0SYT1 CL E G H6857618218BAKER-GORDON SYNDROME618218OMIM193011509185605
HP:0000639HP:0000639Nystagmus0TACO1 CL E G H51204255241ORPHA135724316612958
HP:0000639HP:0000639Nystagmus0TAT CL E G H689828378ORPHA13614011573613018
HP:0000639HP:0000639Nystagmus0TCIRG1 CL E G H10312667ORPHA113728911647604592
HP:0000639HP:0000639Nystagmus0TCIRG1 CL E G H10312259700Osteopetrosis autosomal recessive 1259700C1850127OMIM113728911647604592
HP:0000639HP:0000639Nystagmus0TCTN1 CL E G H79600475Acquired hypoprothrombinemiaORPHA1611626113609863
HP:0000639HP:0000639Nystagmus0TCTN2 CL E G H79867475Acquired hypoprothrombinemiaORPHA11520325774613846
HP:0000639HP:0000639Nystagmus0TCTN2 CL E G H79867616654Joubert syndrome 24616654C4084841OMIM11520325774613846
HP:0000639HP:0000639Nystagmus0TCTN3 CL E G H261232754ORPHA1129524519613847
HP:0000639HP:0000639Nystagmus0TFAP2A CL E G H7020113620Branchiooculofacial syndrome113620C0376524OMIM1448211742107580
HP:0000639HP:0000639Nystagmus0TINF2 CL E G H26277268130Revesz syndrome268130C1327916OMIM14216511824604319
HP:0000639HP:0000639Nystagmus0TMEM106B CL E G H54664617964LEUKODYSTROPHY, HYPOMYELINATING, 16617964CN244907OMIM135222407613413
HP:0000639HP:0000639Nystagmus0TMEM138 CL E G H515242318ORPHA196726944614459
HP:0000639HP:0000639Nystagmus0TMEM216 CL E G H512592318ORPHA1810925018613277
HP:0000639HP:0000639Nystagmus0TMEM216 CL E G H512592754ORPHA1810925018613277
HP:0000639HP:0000639Nystagmus0TMEM216 CL E G H51259608091Joubert syndrome 2608091C1842577OMIM1810925018613277
HP:0000639HP:0000639Nystagmus0TMEM231 CL E G H795832318ORPHA11915037234614949
HP:0000639HP:0000639Nystagmus0TMEM237 CL E G H650622318ORPHA11122114432614423
HP:0000639HP:0000639Nystagmus0TMEM237 CL E G H65062220497ORPHA11122114432614423
HP:0000639HP:0000639Nystagmus0TMEM237 CL E G H65062475Acquired hypoprothrombinemiaORPHA11122114432614423
HP:0000639HP:0000639Nystagmus0TMEM237 CL E G H65062614424Joubert syndrome 14614424C3280766OMIM11122114432614423
HP:0000639HP:0000639Nystagmus0TMEM240 CL E G H33945398773ORPHA1616325186616101
HP:0000639HP:0000639Nystagmus0TMEM67 CL E G H91147475Acquired hypoprothrombinemiaORPHA117431628396609884
HP:0000639HP:0000639Nystagmus0TMEM67 CL E G H91147216360COACH syndrome216360C1857662OMIM117431628396609884
HP:0000639HP:0000639Nystagmus0TMEM67 CL E G H911471454Common atrioventricular canalC0221215ORPHA117431628396609884
HP:0000639HP:0000639Nystagmus0TNFRSF11A CL E G H8792612301Osteopetrosis autosomal recessive 7612301C2676766OMIM12621611908603499
HP:0000639HP:0000639Nystagmus0TNFSF11 CL E G H8600667ORPHA11611711926602642
HP:0000639HP:0000639Nystagmus0TOE1 CL E G H114034614969Pontocerebellar hypoplasia, type 7614969C3554226OMIM11212815954613931
HP:0000639HP:0000639Nystagmus0TOPORS CL E G H10210791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA12222921653609507
HP:0000639HP:0000639Nystagmus0TPP1 CL E G H1200609270Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia609270C1836474OMIM11154812073607998
HP:0000639HP:0000639Nystagmus0TRAF3IP1 CL E G H26146616629Senior-Loken syndrome 9616629C4225263OMIM11616717861607380
HP:0000639HP:0000639Nystagmus0TRAPPC6B CL E G H122553617862NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, EPILEPSY, AND BRAIN ATROPHY617862CN787271OMIM133523066610397
HP:0000639HP:0000639Nystagmus0TREX1 CL E G H11277225750Aicardi Goutieres syndrome 1225750C0796126OMIM17115312269606609
HP:0000639HP:0000639Nystagmus0TRIM32 CL E G H22954110ORPHA11632716380602290
HP:0000639HP:0000639Nystagmus0TRIM44 CL E G H54765250923ORPHA112619016612298
HP:0000639HP:0000639Nystagmus0TRPM1 CL E G H4308613216Congenital stationary night blindness, type 1C613216C2750747OMIM1845307146603576
HP:0000639HP:0000639Nystagmus0TTBK2 CL E G H146057604432Spinocerebellar ataxia 11604432C1858351OMIM11115419141611695
HP:0000639HP:0000639Nystagmus0TTC19 CL E G H54902615157Mitochondrial complex III deficiency, nuclear type 2615157C3554605OMIM11020426006613814
HP:0000639HP:0000639Nystagmus0TTC8 CL E G H123016110ORPHA11612820087608132
HP:0000639HP:0000639Nystagmus0TTC8 CL E G H123016791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11612820087608132
HP:0000639HP:0000639Nystagmus0TTPA CL E G H727496ORPHA13014312404600415
HP:0000639HP:0000639Nystagmus0TTR CL E G H7276105210Amyloidogenic transthyretin amyloidosis105210C2751492OMIM115124012405176300
HP:0000639HP:0000639Nystagmus0TUB CL E G H7275791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA139812406601197
HP:0000639HP:0000639Nystagmus0TUBB3 CL E G H10381300570ORPHA12615520772602661
HP:0000639HP:0000639Nystagmus0TUBB3 CL E G H10381614039Cortical dysplasia, complex, with other brain malformations 1614039C3808397OMIM12615520772602661
HP:0000639HP:0000639Nystagmu