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, 29616339C4225361OMIM120601065
HP:0000639HP:0000639Nystagmus0AARS2 CL E G H57505615889Leukoencephalopathy, progressive, with ovarian failure615889C4014588OMIM133821022612035
HP:0000639HP:0000639Nystagmus0AARS2 CL E G H57505615889Leukoencephalopathy, progressive, with ovarian failure615889C4014588OMIM138721022612035
HP:0000639HP:0000639Nystagmus0ABCA4 CL E G H24791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1212834601691
HP:0000639HP:0000639Nystagmus0ABCA4 CL E G H24791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1253434601691
HP:0000639HP:0000639Nystagmus0ABCB7 CL E G H222802ORPHA124648300135
HP:0000639HP:0000639Nystagmus0ABCB7 CL E G H222802ORPHA125148300135
HP:0000639HP:0000639Nystagmus0ABHD12 CL E G H26090612674Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract612674C2675204OMIM131415868613599
HP:0000639HP:0000639Nystagmus0ABHD12 CL E G H26090612674Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract612674C2675204OMIM138915868613599
HP:0000639HP:0000639Nystagmus0ABHD5 CL E G H5109998907ORPHA117321396604780
HP:0000639HP:0000639Nystagmus0ABHD5 CL E G H5109998907ORPHA118421396604780
HP:0000639HP:0000639Nystagmus0ABHD5 CL E G H51099275630Triglyceride storage disease with ichthyosis275630C0268238OMIM117321396604780
HP:0000639HP:0000639Nystagmus0ABHD5 CL E G H51099275630Triglyceride storage disease with ichthyosis275630C0268238OMIM118421396604780
HP:0000639HP:0000639Nystagmus0ACO2 CL E G H50614559Infantile cerebellar-retinal degeneration614559C3281192OMIM1284118100850
HP:0000639HP:0000639Nystagmus0ACO2 CL E G H50614559Infantile cerebellar-retinal degeneration614559C3281192OMIM1410118100850
HP:0000639HP:0000639Nystagmus0ACOX1 CL E G H512971ORPHA1388119609751
HP:0000639HP:0000639Nystagmus0ACOX1 CL E G H512971ORPHA1435119609751
HP:0000639HP:0000639Nystagmus0ACOX1 CL E G H51264470Pseudoneonatal adrenoleukodystrophy264470C1849678OMIM1388119609751
HP:0000639HP:0000639Nystagmus0ACOX1 CL E G H51264470Pseudoneonatal adrenoleukodystrophy264470C1849678OMIM1435119609751
HP:0000639HP:0000639Nystagmus0ADD3 CL E G H120617008Cerebral palsy, spastic quadriplegic, 3617008C4310767OMIM152245601568
HP:0000639HP:0000639Nystagmus0ADD3 CL E G H120617008Cerebral palsy, spastic quadriplegic, 3617008C4310767OMIM188245601568
HP:0000639HP:0000639Nystagmus0ADGRG1 CL E G H9289606854Polymicrogyria, bilateral frontoparietal606854C1847352OMIM14944512604110
HP:0000639HP:0000639Nystagmus0ADGRG1 CL E G H9289606854Polymicrogyria, bilateral frontoparietal606854C1847352OMIM15364512604110
HP:0000639HP:0000639Nystagmus0ADPRHL2 CL E G H54936618170NEURODEGENERATION, CHILDHOOD-ONSET, STRESS-INDUCED, WITH VARIABLE ATAXIA AND SEIZURES618170OMIM121304610624
HP:0000639HP:0000639Nystagmus0ADSL CL E G H158103050Adenylosuccinate lyase deficiency103050C0268126OMIM1368291608222
HP:0000639HP:0000639Nystagmus0ADSL CL E G H158103050Adenylosuccinate lyase deficiency103050C0268126OMIM1582291608222
HP:0000639HP:0000639Nystagmus0AFG3L2 CL E G H10939101109ORPHA1349315604581
HP:0000639HP:0000639Nystagmus0AFG3L2 CL E G H10939101109ORPHA1357315604581
HP:0000639HP:0000639Nystagmus0AGBL5 CL E G H60509791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA126526147615900
HP:0000639HP:0000639Nystagmus0AGBL5 CL E G H60509791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA137726147615900
HP:0000639HP:0000639Nystagmus0AGK CL E G H557501369ORPHA122021869610345
HP:0000639HP:0000639Nystagmus0AGK CL E G H557501369ORPHA123621869610345
HP:0000639HP:0000639Nystagmus0AGK CL E G H55750212350Cataract and cardiomyopathy212350C1859317OMIM122021869610345
HP:0000639HP:0000639Nystagmus0AGK CL E G H55750212350Cataract and cardiomyopathy212350C1859317OMIM123621869610345
HP:0000639HP:0000639Nystagmus0AGTPBP1 CL E G H23287618276618276618276OMIM16417258606830
HP:0000639HP:0000639Nystagmus0AHI1 CL E G H54806220493ORPHA165021575608894
HP:0000639HP:0000639Nystagmus0AHI1 CL E G H54806220493ORPHA182721575608894
HP:0000639HP:0000639Nystagmus0AHI1 CL E G H54806475Acquired hypoprothrombinemiaORPHA165021575608894
HP:0000639HP:0000639Nystagmus0AHI1 CL E G H54806475Acquired hypoprothrombinemiaORPHA182721575608894
HP:0000639HP:0000639Nystagmus0AHI1 CL E G H54806791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA165021575608894
HP:0000639HP:0000639Nystagmus0AHI1 CL E G H54806791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA182721575608894
HP:0000639HP:0000639Nystagmus0AHI1 CL E G H54806608629Joubert syndrome 3608629C1837713OMIM165021575608894
HP:0000639HP:0000639Nystagmus0AHI1 CL E G H54806608629Joubert syndrome 3608629C1837713OMIM182721575608894
HP:0000639HP:0000639Nystagmus0AHR CL E G H196791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1204348600253
HP:0000639HP:0000639Nystagmus0AHR CL E G H196791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1300348600253
HP:0000639HP:0000639Nystagmus0AIMP1 CL E G H9255260600Leukodystrophy, hypomyelinating 3260600C1850053OMIM15210648603605
HP:0000639HP:0000639Nystagmus0AIMP1 CL E G H9255260600Leukodystrophy, hypomyelinating 3260600C1850053OMIM16610648603605
HP:0000639HP:0000639Nystagmus0AIPL1 CL E G H2374665ORPHA1315359604392
HP:0000639HP:0000639Nystagmus0AIPL1 CL E G H2374665ORPHA1374359604392
HP:0000639HP:0000639Nystagmus0ALG2 CL E G H8536579326ORPHA119323159607905
HP:0000639HP:0000639Nystagmus0ALG2 CL E G H8536579326ORPHA124123159607905
HP:0000639HP:0000639Nystagmus0ALG2 CL E G H85365607906Congenital disorder of glycosylation type 1I607906C1842836OMIM119323159607905
HP:0000639HP:0000639Nystagmus0ALG2 CL E G H85365607906Congenital disorder of glycosylation type 1I607906C1842836OMIM124123159607905
HP:0000639HP:0000639Nystagmus0ALMS1 CL E G H784064ORPHA12504428606844
HP:0000639HP:0000639Nystagmus0ALMS1 CL E G H784064ORPHA13342428606844
HP:0000639HP:0000639Nystagmus0ALMS1 CL E G H7840203800Alstrom syndrome203800C0268425OMIM12504428606844
HP:0000639HP:0000639Nystagmus0ALMS1 CL E G H7840203800Alstrom syndrome203800C0268425OMIM13342428606844
HP:0000639HP:0000639Nystagmus0ALX4 CL E G H6052952022ORPHA1245450605420
HP:0000639HP:0000639Nystagmus0ALX4 CL E G H6052952022ORPHA1246450605420
HP:0000639HP:0000639Nystagmus0ALX4 CL E G H60529228390ORPHA1245450605420
HP:0000639HP:0000639Nystagmus0ALX4 CL E G H60529228390ORPHA1246450605420
HP:0000639HP:0000639Nystagmus0ANK1 CL E G H286251066ORPHA1567492612641
HP:0000639HP:0000639Nystagmus0ANK1 CL E G H286251066ORPHA1604492612641
HP:0000639HP:0000639Nystagmus0ANO10 CL E G H55129613728Spinocerebellar ataxia, autosomal recessive 10613728C3150998OMIM121425519613726
HP:0000639HP:0000639Nystagmus0ANO10 CL E G H55129613728Spinocerebellar ataxia, autosomal recessive 10613728C3150998OMIM122225519613726
HP:0000639HP:0000639Nystagmus0ANTXR1 CL E G H84168230740Odontotrichomelic syndrome230740C0406723OMIM18321014606410
HP:0000639HP:0000639Nystagmus0ANTXR1 CL E G H84168230740Odontotrichomelic syndrome230740C0406723OMIM18421014606410
HP:0000639HP:0000639Nystagmus0AP3B1 CL E G H8546608233Hermansky Pudlak syndrome 2608233C1842362OMIM1356566603401
HP:0000639HP:0000639Nystagmus0AP3B1 CL E G H8546608233Hermansky Pudlak syndrome 2608233C1842362OMIM1467566603401
HP:0000639HP:0000639Nystagmus0AP3D1 CL E G H8943284804ORPHA1226568607246
HP:0000639HP:0000639Nystagmus0AP3D1 CL E G H8943284804ORPHA1394568607246
HP:0000639HP:0000639Nystagmus0AP3D1 CL E G H8943617050Hermansky-Pudlak syndrome 10617050C4310746OMIM1226568607246
HP:0000639HP:0000639Nystagmus0AP3D1 CL E G H8943617050Hermansky-Pudlak syndrome 10617050C4310746OMIM1394568607246
HP:0000639HP:0000639Nystagmus0AP4E1 CL E G H23431613744Spastic paraplegia 51, autosomal recessive613744C3151056OMIM1238573607244
HP:0000639HP:0000639Nystagmus0AP4E1 CL E G H23431613744Spastic paraplegia 51, autosomal recessive613744C3151056OMIM1332573607244
HP:0000639HP:0000639Nystagmus0ARHGEF18 CL E G H23370791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA137617090616432
HP:0000639HP:0000639Nystagmus0ARHGEF18 CL E G H23370791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA151917090616432
HP:0000639HP:0000639Nystagmus0ARHGEF2 CL E G H9181617523Neurodevelopmental disorder with midbrain and hindbrain malformations617523C4479613OMIM137682607560
HP:0000639HP:0000639Nystagmus0ARHGEF2 CL E G H9181617523Neurodevelopmental disorder with midbrain and hindbrain malformations617523C4479613OMIM141682607560
HP:0000639HP:0000639Nystagmus0ARID1A CL E G H82891465ORPHA138311110603024
HP:0000639HP:0000639Nystagmus0ARID1A CL E G H82891465ORPHA144211110603024
HP:0000639HP:0000639Nystagmus0ARID1B CL E G H574921465ORPHA186618040614556
HP:0000639HP:0000639Nystagmus0ARID1B CL E G H574921465ORPHA195818040614556
HP:0000639HP:0000639Nystagmus0ARID1B CL E G H57492135900Coffin-Siris syndrome 1135900C3281201OMIM186618040614556
HP:0000639HP:0000639Nystagmus0ARID1B CL E G H57492135900Coffin-Siris syndrome 1135900C3281201OMIM195818040614556
HP:0000639HP:0000639Nystagmus0ARID2 CL E G H1965281465ORPHA117918037609539
HP:0000639HP:0000639Nystagmus0ARID2 CL E G H1965281465ORPHA118618037609539
HP:0000639HP:0000639Nystagmus0ARL13B CL E G H200894475Acquired hypoprothrombinemiaORPHA118425419608922
HP:0000639HP:0000639Nystagmus0ARL13B CL E G H200894475Acquired hypoprothrombinemiaORPHA122225419608922
HP:0000639HP:0000639Nystagmus0ARL2BP CL E G H23568791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA15117146615407
HP:0000639HP:0000639Nystagmus0ARL2BP CL E G H23568791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA17417146615407
HP:0000639HP:0000639Nystagmus0ARL3 CL E G H403475Acquired hypoprothrombinemiaORPHA164694604695
HP:0000639HP:0000639Nystagmus0ARL3 CL E G H403475Acquired hypoprothrombinemiaORPHA190694604695
HP:0000639HP:0000639Nystagmus0ARL3 CL E G H403791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA164694604695
HP:0000639HP:0000639Nystagmus0ARL3 CL E G H403791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA190694604695
HP:0000639HP:0000639Nystagmus0ARL6 CL E G H84100110ORPHA111313210608845
HP:0000639HP:0000639Nystagmus0ARL6 CL E G H84100110ORPHA114313210608845
HP:0000639HP:0000639Nystagmus0ARL6 CL E G H84100791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA111313210608845
HP:0000639HP:0000639Nystagmus0ARL6 CL E G H84100791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA114313210608845
HP:0000639HP:0000639Nystagmus0ARMC9 CL E G H80210475Acquired hypoprothrombinemiaORPHA125120730617612
HP:0000639HP:0000639Nystagmus0ARMC9 CL E G H80210475Acquired hypoprothrombinemiaORPHA138020730617612
HP:0000639HP:0000639Nystagmus0ARNT2 CL E G H99153157Lachiewicz Sibley syndromeORPHA16216876606036
HP:0000639HP:0000639Nystagmus0ARNT2 CL E G H99153157Lachiewicz Sibley syndromeORPHA18416876606036
HP:0000639HP:0000639Nystagmus0ARX CL E G H1703022508ORPHA156518060300382
HP:0000639HP:0000639Nystagmus0ARX CL E G H1703022508ORPHA162418060300382
HP:0000639HP:0000639Nystagmus0ARX CL E G H170302300004Proud Levine Carpenter syndrome300004C0796124OMIM156518060300382
HP:0000639HP:0000639Nystagmus0ARX CL E G H170302300004Proud Levine Carpenter syndrome300004C0796124OMIM162418060300382
HP:0000639HP:0000639Nystagmus0ASAH1 CL E G H427333ORPHA1420735613468
HP:0000639HP:0000639Nystagmus0ASAH1 CL E G H427333ORPHA1593735613468
HP:0000639HP:0000639Nystagmus0ASPA CL E G H443271900Spongy degeneration of central nervous system271900C0206307OMIM1245756608034
HP:0000639HP:0000639Nystagmus0ASPA CL E G H443271900Spongy degeneration of central nervous system271900C0206307OMIM1281756608034
HP:0000639HP:0000639Nystagmus0ATAD3A CL E G H55210617183Harel-Yoon syndrome617183C4310677OMIM125025567612316
HP:0000639HP:0000639Nystagmus0ATAD3A CL E G H55210617183Harel-Yoon syndrome617183C4310677OMIM126425567612316
HP:0000639HP:0000639Nystagmus0ATCAY CL E G H8530094122ORPHA1175779608179
HP:0000639HP:0000639Nystagmus0ATCAY CL E G H8530094122ORPHA1179779608179
HP:0000639HP:0000639Nystagmus0ATCAY CL E G H85300601238Cerebellar ataxia, Cayman type601238C1832585OMIM1175779608179
HP:0000639HP:0000639Nystagmus0ATCAY CL E G H85300601238Cerebellar ataxia, Cayman type601238C1832585OMIM1179779608179
HP:0000639HP:0000639Nystagmus0ATM CL E G H472100ORPHA110320795607585
HP:0000639HP:0000639Nystagmus0ATM CL E G H472100ORPHA111382795607585
HP:0000639HP:0000639Nystagmus0ATM CL E G H472208900Ataxia-telangiectasia syndrome208900C0004135OMIM110320795607585
HP:0000639HP:0000639Nystagmus0ATM CL E G H472208900Ataxia-telangiectasia syndrome208900C0004135OMIM111382795607585
HP:0000639HP:0000639Nystagmus0ATN1 CL E G H1822101ORPHA1963033607462
HP:0000639HP:0000639Nystagmus0ATN1 CL E G H1822101ORPHA11033033607462
HP:0000639HP:0000639Nystagmus0ATP13A2 CL E G H23400617225Spastic paraplegia 78, autosomal recessive617225C4310662OMIM148730213610513
HP:0000639HP:0000639Nystagmus0ATP13A2 CL E G H23400617225Spastic paraplegia 78, autosomal recessive617225C4310662OMIM160930213610513
HP:0000639HP:0000639Nystagmus0ATP1A2 CL E G H477569ORPHA1726800182340
HP:0000639HP:0000639Nystagmus0ATP1A2 CL E G H477569ORPHA1801800182340
HP:0000639HP:0000639Nystagmus0ATP1A2 CL E G H477104290Alternating hemiplegia of childhood 1104290C3549447OMIM1726800182340
HP:0000639HP:0000639Nystagmus0ATP1A2 CL E G H477104290Alternating hemiplegia of childhood 1104290C3549447OMIM1801800182340
HP:0000639HP:0000639Nystagmus0ATP1A3 CL E G H478614820Alternating hemiplegia of childhood 2614820C3553788OMIM1625801182350
HP:0000639HP:0000639Nystagmus0ATP1A3 CL E G H478614820Alternating hemiplegia of childhood 2614820C3553788OMIM1687801182350
HP:0000639HP:0000639Nystagmus0ATP1A3 CL E G H478601338Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss601338C1832466OMIM1625801182350
HP:0000639HP:0000639Nystagmus0ATP1A3 CL E G H478601338Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss601338C1832466OMIM1687801182350
HP:0000639HP:0000639Nystagmus0ATP2B3 CL E G H492302500Spinocerebellar ataxia, X-linked 1302500C0796205OMIM1292816300014
HP:0000639HP:0000639Nystagmus0ATP2B3 CL E G H492302500Spinocerebellar ataxia, X-linked 1302500C0796205OMIM1300816300014
HP:0000639HP:0000639Nystagmus0ATP5F1A CL E G H498615228Mitochondrial complex v (atp synthase) deficiency, nuclear type 4615228C3808899OMIM1147823164360
HP:0000639HP:0000639Nystagmus0ATP5F1A CL E G H498615228Mitochondrial complex v (atp synthase) deficiency, nuclear type 4615228C3808899OMIM1149823164360
HP:0000639HP:0000639Nystagmus0ATP6V1E1 CL E G H529617402CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC617402C4479387OMIM1160857108746
HP:0000639HP:0000639Nystagmus0ATP6V1E1 CL E G H529617402CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC617402C4479387OMIM1168857108746
HP:0000639HP:0000639Nystagmus0ATXN1 CL E G H6310164400Spinocerebellar ataxia 1164400C0752120OMIM17610548601556
HP:0000639HP:0000639Nystagmus0ATXN1 CL E G H6310164400Spinocerebellar ataxia 1164400C0752120OMIM17810548601556
HP:0000639HP:0000639Nystagmus0ATXN10 CL E G H25814603516Spinocerebellar ataxia 10603516C1963674OMIM19910549611150
HP:0000639HP:0000639Nystagmus0ATXN10 CL E G H25814603516Spinocerebellar ataxia 10603516C1963674OMIM110110549611150
HP:0000639HP:0000639Nystagmus0ATXN2 CL E G H631198756ORPHA15010555601517
HP:0000639HP:0000639Nystagmus0ATXN2 CL E G H631198756ORPHA15210555601517
HP:0000639HP:0000639Nystagmus0ATXN7 CL E G H631494147ORPHA13710560607640
HP:0000639HP:0000639Nystagmus0ATXN7 CL E G H631494147ORPHA13910560607640
HP:0000639HP:0000639Nystagmus0ATXN8 CL E G H72406698760ORPHA1232925613289
HP:0000639HP:0000639Nystagmus0ATXN8 CL E G H724066608768Spinocerebellar ataxia 8608768C1837454OMIM1232925613289
HP:0000639HP:0000639Nystagmus0ATXN8OS CL E G H631598760ORPHA17210561603680
HP:0000639HP:0000639Nystagmus0ATXN8OS CL E G H631598760ORPHA17610561603680
HP:0000639HP:0000639Nystagmus0ATXN8OS CL E G H6315608768Spinocerebellar ataxia 8608768C1837454OMIM17210561603680
HP:0000639HP:0000639Nystagmus0ATXN8OS CL E G H6315608768Spinocerebellar ataxia 8608768C1837454OMIM17610561603680
HP:0000639HP:0000639Nystagmus0B3GLCT CL E G H145173709ORPHA122620207610308
HP:0000639HP:0000639Nystagmus0B3GLCT CL E G H145173709ORPHA124820207610308
HP:0000639HP:0000639Nystagmus0B3GLCT CL E G H145173261540Peters plus syndrome261540C0796012OMIM122620207610308
HP:0000639HP:0000639Nystagmus0B3GLCT CL E G H145173261540Peters plus syndrome261540C0796012OMIM124820207610308
HP:0000639HP:0000639Nystagmus0B9D1 CL E G H27077475Acquired hypoprothrombinemiaORPHA119624123614144
HP:0000639HP:0000639Nystagmus0B9D1 CL E G H27077475Acquired hypoprothrombinemiaORPHA123024123614144
HP:0000639HP:0000639Nystagmus0B9D1 CL E G H27077617120Joubert syndrome 27617120C4310706OMIM119624123614144
HP:0000639HP:0000639Nystagmus0B9D1 CL E G H27077617120Joubert syndrome 27617120C4310706OMIM123024123614144
HP:0000639HP:0000639Nystagmus0BBIP1 CL E G H92482110ORPHA15928093613605
HP:0000639HP:0000639Nystagmus0BBIP1 CL E G H92482110ORPHA17128093613605
HP:0000639HP:0000639Nystagmus0BBS1 CL E G H582110ORPHA1491966209901
HP:0000639HP:0000639Nystagmus0BBS1 CL E G H582110ORPHA1582966209901
HP:0000639HP:0000639Nystagmus0BBS1 CL E G H582209900Bardet-Biedl syndrome 1209900C2936862OMIM1491966209901
HP:0000639HP:0000639Nystagmus0BBS1 CL E G H582209900Bardet-Biedl syndrome 1209900C2936862OMIM1582966209901
HP:0000639HP:0000639Nystagmus0BBS10 CL E G H79738110ORPHA143826291610148
HP:0000639HP:0000639Nystagmus0BBS10 CL E G H79738110ORPHA152826291610148
HP:0000639HP:0000639Nystagmus0BBS12 CL E G H166379110ORPHA135526648610683
HP:0000639HP:0000639Nystagmus0BBS12 CL E G H166379110ORPHA143926648610683
HP:0000639HP:0000639Nystagmus0BBS2 CL E G H583110ORPHA1482967606151
HP:0000639HP:0000639Nystagmus0BBS2 CL E G H583110ORPHA1585967606151
HP:0000639HP:0000639Nystagmus0BBS2 CL E G H583791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1482967606151
HP:0000639HP:0000639Nystagmus0BBS2 CL E G H583791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1585967606151
HP:0000639HP:0000639Nystagmus0BBS4 CL E G H585110ORPHA1299969600374
HP:0000639HP:0000639Nystagmus0BBS4 CL E G H585110ORPHA1378969600374
HP:0000639HP:0000639Nystagmus0BBS5 CL E G H129880110ORPHA1147970603650
HP:0000639HP:0000639Nystagmus0BBS5 CL E G H129880110ORPHA1199970603650
HP:0000639HP:0000639Nystagmus0BBS7 CL E G H55212110ORPHA125418758607590
HP:0000639HP:0000639Nystagmus0BBS7 CL E G H55212110ORPHA132618758607590
HP:0000639HP:0000639Nystagmus0BBS9 CL E G H27241110ORPHA142630000607968
HP:0000639HP:0000639Nystagmus0BBS9 CL E G H27241110ORPHA151230000607968
HP:0000639HP:0000639Nystagmus0BCS1L CL E G H617256000Leigh syndrome256000C0023264OMIM12491020603647
HP:0000639HP:0000639Nystagmus0BCS1L CL E G H617256000Leigh syndrome256000C0023264OMIM12791020603647
HP:0000639HP:0000639Nystagmus0BDNF CL E G H627893ORPHA1561033113505
HP:0000639HP:0000639Nystagmus0BEAN1 CL E G H146227217012ORPHA13524160612051
HP:0000639HP:0000639Nystagmus0BEST1 CL E G H7439791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA149912703607854
HP:0000639HP:0000639Nystagmus0BEST1 CL E G H7439791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA159512703607854
HP:0000639HP:0000639Nystagmus0BEST1 CL E G H7439193220Vitreoretinochoroidopathy193220C1860406OMIM149912703607854
HP:0000639HP:0000639Nystagmus0BEST1 CL E G H7439193220Vitreoretinochoroidopathy193220C1860406OMIM159512703607854
HP:0000639HP:0000639Nystagmus0BRAF CL E G H673115150Cardiofaciocutaneous syndrome 1115150CN029449OMIM16181097164757
HP:0000639HP:0000639Nystagmus0BRAF CL E G H673115150Cardiofaciocutaneous syndrome 1115150CN029449OMIM16801097164757
HP:0000639HP:0000639Nystagmus0BRAF CL E G H6731340Chromosome 4, monosomy 4qC0265404ORPHA16181097164757
HP:0000639HP:0000639Nystagmus0BRAF CL E G H6731340Chromosome 4, monosomy 4qC0265404ORPHA16801097164757
HP:0000639HP:0000639Nystagmus0BRAT1 CL E G H221927618056NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES618056CN252657OMIM172521701614506
HP:0000639HP:0000639Nystagmus0BRAT1 CL E G H221927618056NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES618056CN252657OMIM184721701614506
HP:0000639HP:0000639Nystagmus0BUB1B CL E G H701257300Mosaic variegated aneuploidy syndrome 1257300CN031748OMIM15111149602860
HP:0000639HP:0000639Nystagmus0BUB1B CL E G H701257300Mosaic variegated aneuploidy syndrome 1257300CN031748OMIM16171149602860
HP:0000639HP:0000639Nystagmus0C12orf65 CL E G H91574613559Combined oxidative phosphorylation deficiency 7613559C3150801OMIM126784613541
HP:0000639HP:0000639Nystagmus0C8orf37 CL E G H157657110ORPHA127232614477
HP:0000639HP:0000639Nystagmus0C8orf37 CL E G H157657791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA127232614477
HP:0000639HP:0000639Nystagmus0CA4 CL E G H762791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11421375114760
HP:0000639HP:0000639Nystagmus0CA4 CL E G H762791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11881375114760
HP:0000639HP:0000639Nystagmus0CABP4 CL E G H57010610427Congenital stationary night blindness, type 2B610427C1864877OMIM12521386608965
HP:0000639HP:0000639Nystagmus0CABP4 CL E G H57010610427Congenital stationary night blindness, type 2B610427C1864877OMIM13121386608965
HP:0000639HP:0000639Nystagmus0CACNA1A CL E G H77397ORPHA120471388601011
HP:0000639HP:0000639Nystagmus0CACNA1A CL E G H77397ORPHA123261388601011
HP:0000639HP:0000639Nystagmus0CACNA1A CL E G H773569ORPHA120471388601011
HP:0000639HP:0000639Nystagmus0CACNA1A CL E G H773569ORPHA123261388601011
HP:0000639HP:0000639Nystagmus0CACNA1A CL E G H773617106Epileptic encephalopathy, early infantile, 42617106C4310716OMIM120471388601011
HP:0000639HP:0000639Nystagmus0CACNA1A CL E G H773617106Epileptic encephalopathy, early infantile, 42617106C4310716OMIM123261388601011
HP:0000639HP:0000639Nystagmus0CACNA1A CL E G H773141500Familial hemiplegic migraine type 1141500C1832884OMIM120471388601011
HP:0000639HP:0000639Nystagmus0CACNA1A CL E G H773141500Familial hemiplegic migraine type 1141500C1832884OMIM123261388601011
HP:0000639HP:0000639Nystagmus0CACNA1E CL E G H777618285618285618285OMIM14101392601013
HP:0000639HP:0000639Nystagmus0CACNA1E CL E G H777618285618285618285OMIM16431392601013
HP:0000639HP:0000639Nystagmus0CACNA1F CL E G H778178333ORPHA16581393300110
HP:0000639HP:0000639Nystagmus0CACNA1F CL E G H778178333ORPHA18181393300110
HP:0000639HP:0000639Nystagmus0CACNA1F CL E G H778300600Ocular albinism, type II300600C0268505OMIM16581393300110
HP:0000639HP:0000639Nystagmus0CACNA1F CL E G H778300600Ocular albinism, type II300600C0268505OMIM18181393300110
HP:0000639HP:0000639Nystagmus0CASK CL E G H8573163937ORPHA15831497300172
HP:0000639HP:0000639Nystagmus0CASK CL E G H8573163937ORPHA16331497300172
HP:0000639HP:0000639Nystagmus0CAV1 CL E G H857606721Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome606721C1847582OMIM1811527601047
HP:0000639HP:0000639Nystagmus0CAV1 CL E G H857606721Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome606721C1847582OMIM1851527601047
HP:0000639HP:0000639Nystagmus0CC2D2A CL E G H575452318ORPHA188129253612013
HP:0000639HP:0000639Nystagmus0CC2D2A CL E G H575452318ORPHA1106429253612013
HP:0000639HP:0000639Nystagmus0CC2D2A CL E G H57545216360COACH syndrome216360C1857662OMIM188129253612013
HP:0000639HP:0000639Nystagmus0CC2D2A CL E G H57545216360COACH syndrome216360C1857662OMIM1106429253612013
HP:0000639HP:0000639Nystagmus0CC2D2A CL E G H575451454Common atrioventricular canalC0221215ORPHA188129253612013
HP:0000639HP:0000639Nystagmus0CC2D2A CL E G H575451454Common atrioventricular canalC0221215ORPHA1106429253612013
HP:0000639HP:0000639Nystagmus0CC2D2A CL E G H57545612285Joubert syndrome 9612285C2676788OMIM188129253612013
HP:0000639HP:0000639Nystagmus0CC2D2A CL E G H57545612285Joubert syndrome 9612285C2676788OMIM1106429253612013
HP:0000639HP:0000639Nystagmus0CDHR1 CL E G H92211791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA149614550609502
HP:0000639HP:0000639Nystagmus0CDHR1 CL E G H92211791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA162314550609502
HP:0000639HP:0000639Nystagmus0CEP104 CL E G H9731475Acquired hypoprothrombinemiaORPHA135424866616690
HP:0000639HP:0000639Nystagmus0CEP104 CL E G H9731475Acquired hypoprothrombinemiaORPHA138424866616690
HP:0000639HP:0000639Nystagmus0CEP120 CL E G H153241220493ORPHA121026690613446
HP:0000639HP:0000639Nystagmus0CEP120 CL E G H153241220493ORPHA125026690613446
HP:0000639HP:0000639Nystagmus0CEP120 CL E G H153241475Acquired hypoprothrombinemiaORPHA121026690613446
HP:0000639HP:0000639Nystagmus0CEP120 CL E G H153241475Acquired hypoprothrombinemiaORPHA125026690613446
HP:0000639HP:0000639Nystagmus0CEP120 CL E G H153241617761JOUBERT SYNDROME 31617761C4540355OMIM121026690613446
HP:0000639HP:0000639Nystagmus0CEP120 CL E G H153241617761JOUBERT SYNDROME 31617761C4540355OMIM125026690613446
HP:0000639HP:0000639Nystagmus0CEP290 CL E G H8018465ORPHA1153529021610142
HP:0000639HP:0000639Nystagmus0CEP290 CL E G H8018465ORPHA1190229021610142
HP:0000639HP:0000639Nystagmus0CEP290 CL E G H80184110ORPHA1153529021610142
HP:0000639HP:0000639Nystagmus0CEP290 CL E G H80184110ORPHA1190229021610142
HP:0000639HP:0000639Nystagmus0CEP290 CL E G H801842318ORPHA1153529021610142
HP:0000639HP:0000639Nystagmus0CEP290 CL E G H801842318ORPHA1190229021610142
HP:0000639HP:0000639Nystagmus0CEP290 CL E G H80184610188Joubert syndrome 5610188C1857780OMIM1153529021610142
HP:0000639HP:0000639Nystagmus0CEP290 CL E G H80184610188Joubert syndrome 5610188C1857780OMIM1190229021610142
HP:0000639HP:0000639Nystagmus0CEP41 CL E G H95681220493ORPHA129712370610523
HP:0000639HP:0000639Nystagmus0CEP41 CL E G H95681220493ORPHA134712370610523
HP:0000639HP:0000639Nystagmus0CEP41 CL E G H95681475Acquired hypoprothrombinemiaORPHA129712370610523
HP:0000639HP:0000639Nystagmus0CEP41 CL E G H95681475Acquired hypoprothrombinemiaORPHA134712370610523
HP:0000639HP:0000639Nystagmus0CEP78 CL E G H84131617236Cone-rod dystrophy and hearing loss617236C4310657OMIM128525740617110
HP:0000639HP:0000639Nystagmus0CEP78 CL E G H84131617236Cone-rod dystrophy and hearing loss617236C4310657OMIM138925740617110
HP:0000639HP:0000639Nystagmus0CERKL CL E G H375298791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA142721699608381
HP:0000639HP:0000639Nystagmus0CERKL CL E G H375298791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA150221699608381
HP:0000639HP:0000639Nystagmus0CFAP410 CL E G H755602271Spondylometaphyseal dysplasia axial602271C1865695OMIM12701260603191
HP:0000639HP:0000639Nystagmus0CFAP410 CL E G H755602271Spondylometaphyseal dysplasia axial602271C1865695OMIM13351260603191
HP:0000639HP:0000639Nystagmus0CHD7 CL E G H55636138ORPHA1175220626608892
HP:0000639HP:0000639Nystagmus0CHD7 CL E G H55636138ORPHA1198020626608892
HP:0000639HP:0000639Nystagmus0CISD2 CL E G H4938563463ORPHA12624212611507
HP:0000639HP:0000639Nystagmus0CISD2 CL E G H4938563463ORPHA13824212611507
HP:0000639HP:0000639Nystagmus0CLCN7 CL E G H1186667ORPHA13882025602727
HP:0000639HP:0000639Nystagmus0CLCN7 CL E G H1186667ORPHA15492025602727
HP:0000639HP:0000639Nystagmus0CLDN16 CL E G H10686248250Primary hypomagnesemia248250C0268448OMIM12312037603959
HP:0000639HP:0000639Nystagmus0CLDN16 CL E G H10686248250Primary hypomagnesemia248250C0268448OMIM12452037603959
HP:0000639HP:0000639Nystagmus0CLDN19 CL E G H1494612196Esophageal atresia coloboma talipesORPHA11112040610036
HP:0000639HP:0000639Nystagmus0CLDN19 CL E G H1494612196Esophageal atresia coloboma talipesORPHA11232040610036
HP:0000639HP:0000639Nystagmus0CLDN19 CL E G H149461248190Hypomagnesemia 5, renal, with ocular involvement248190C1855466OMIM11112040610036
HP:0000639HP:0000639Nystagmus0CLDN19 CL E G H149461248190Hypomagnesemia 5, renal, with ocular involvement248190C1855466OMIM11232040610036
HP:0000639HP:0000639Nystagmus0CLP1 CL E G H10978615803Pontocerebellar hypoplasia, type 10615803C4014347OMIM14016999608757
HP:0000639HP:0000639Nystagmus0CLP1 CL E G H10978615803Pontocerebellar hypoplasia, type 10615803C4014347OMIM14916999608757
HP:0000639HP:0000639Nystagmus0CLRN1 CL E G H7401791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA124212605606397
HP:0000639HP:0000639Nystagmus0CLRN1 CL E G H7401791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA127212605606397
HP:0000639HP:0000639Nystagmus0CNGA1 CL E G H1259791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA12432148123825
HP:0000639HP:0000639Nystagmus0CNGA1 CL E G H1259791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA13042148123825
HP:0000639HP:0000639Nystagmus0CNGA3 CL E G H1261216900Achromatopsia 2216900C1857618OMIM13982150600053
HP:0000639HP:0000639Nystagmus0CNGA3 CL E G H1261216900Achromatopsia 2216900C1857618OMIM14972150600053
HP:0000639HP:0000639Nystagmus0CNGB1 CL E G H1258791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA16422151600724
HP:0000639HP:0000639Nystagmus0CNGB1 CL E G H1258791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA17992151600724
HP:0000639HP:0000639Nystagmus0CNNM4 CL E G H26504217080Cone-rod dystrophy amelogenesis imperfecta217080C1857588OMIM1309105607805
HP:0000639HP:0000639Nystagmus0CNNM4 CL E G H26504217080Cone-rod dystrophy amelogenesis imperfecta217080C1857588OMIM1387105607805
HP:0000639HP:0000639Nystagmus0CNNM4 CL E G H265041873Diphallus rachischisis imperforate anusORPHA1309105607805
HP:0000639HP:0000639Nystagmus0CNNM4 CL E G H265041873Diphallus rachischisis imperforate anusORPHA1387105607805
HP:0000639HP:0000639Nystagmus0COG4 CL E G H25839263501ORPHA122118620606976
HP:0000639HP:0000639Nystagmus0COG4 CL E G H25839263501ORPHA124718620606976
HP:0000639HP:0000639Nystagmus0COL18A1 CL E G H807811571ORPHA17612195120328
HP:0000639HP:0000639Nystagmus0COL18A1 CL E G H807811571ORPHA114972195120328
HP:0000639HP:0000639Nystagmus0COL18A1 CL E G H80781267750Knobloch syndrome 1267750C1849409OMIM17612195120328
HP:0000639HP:0000639Nystagmus0COL18A1 CL E G H80781267750Knobloch syndrome 1267750C1849409OMIM114972195120328
HP:0000639HP:0000639Nystagmus0COQ2 CL E G H27235607426Coenzyme Q10 deficiency, primary 1607426C1843920OMIM113725223609825
HP:0000639HP:0000639Nystagmus0COQ2 CL E G H27235607426Coenzyme Q10 deficiency, primary 1607426C1843920OMIM117125223609825
HP:0000639HP:0000639Nystagmus0COX10 CL E G H1352256000Leigh syndrome256000C0023264OMIM12472260602125
HP:0000639HP:0000639Nystagmus0COX10 CL E G H1352256000Leigh syndrome256000C0023264OMIM12632260602125
HP:0000639HP:0000639Nystagmus0COX15 CL E G H1355255241ORPHA12162263603646
HP:0000639HP:0000639Nystagmus0COX15 CL E G H1355255241ORPHA12332263603646
HP:0000639HP:0000639Nystagmus0COX15 CL E G H1355256000Leigh syndrome256000C0023264OMIM12162263603646
HP:0000639HP:0000639Nystagmus0COX15 CL E G H1355256000Leigh syndrome256000C0023264OMIM12332263603646
HP:0000639HP:0000639Nystagmus0CPLANE1 CL E G H652502754ORPHA182425801614571
HP:0000639HP:0000639Nystagmus0CPLANE1 CL E G H652502754ORPHA1123925801614571
HP:0000639HP:0000639Nystagmus0CPLANE1 CL E G H65250475Acquired hypoprothrombinemiaORPHA182425801614571
HP:0000639HP:0000639Nystagmus0CPLANE1 CL E G H65250475Acquired hypoprothrombinemiaORPHA1123925801614571
HP:0000639HP:0000639Nystagmus0CPLANE1 CL E G H65250277170Orofaciodigital syndrome 6277170C2745997OMIM182425801614571
HP:0000639HP:0000639Nystagmus0CPLANE1 CL E G H65250277170Orofaciodigital syndrome 6277170C2745997OMIM1123925801614571
HP:0000639HP:0000639Nystagmus0CPLX1 CL E G H108151941904p partial monosomy syndrome194190C1956097OMIM11512309605032
HP:0000639HP:0000639Nystagmus0CPLX1 CL E G H108151941904p partial monosomy syndrome194190C1956097OMIM11632309605032
HP:0000639HP:0000639Nystagmus0CRB1 CL E G H2341865ORPHA18942343604210
HP:0000639HP:0000639Nystagmus0CRB1 CL E G H2341865ORPHA110852343604210
HP:0000639HP:0000639Nystagmus0CRB1 CL E G H23418791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA18942343604210
HP:0000639HP:0000639Nystagmus0CRB1 CL E G H23418791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA110852343604210
HP:0000639HP:0000639Nystagmus0CRB1 CL E G H23418600105Retinitis pigmentosa 12600105C1838647OMIM18942343604210
HP:0000639HP:0000639Nystagmus0CRB1 CL E G H23418600105Retinitis pigmentosa 12600105C1838647OMIM110852343604210
HP:0000639HP:0000639Nystagmus0CRX CL E G H140665ORPHA13612383602225
HP:0000639HP:0000639Nystagmus0CRX CL E G H140665ORPHA14192383602225
HP:0000639HP:0000639Nystagmus0CRX CL E G H1406791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA13612383602225
HP:0000639HP:0000639Nystagmus0CRX CL E G H1406791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA14192383602225
HP:0000639HP:0000639Nystagmus0CRYAA CL E G H1409604219Cataract, autosomal dominant604219C1858679OMIM11412388123580
HP:0000639HP:0000639Nystagmus0CRYAA CL E G H1409604219Cataract, autosomal dominant604219C1858679OMIM11502388123580
HP:0000639HP:0000639Nystagmus0CRYBB1 CL E G H1414611544Cataract, congenital nuclear, autosomal recessive 3611544C1969062OMIM1822397600929
HP:0000639HP:0000639Nystagmus0CRYBB1 CL E G H1414611544Cataract, congenital nuclear, autosomal recessive 3611544C1969062OMIM1852397600929
HP:0000639HP:0000639Nystagmus0CRYGC CL E G H1420604307Cataract, coppock-like604307C1852438OMIM1672410123680
HP:0000639HP:0000639Nystagmus0CRYGC CL E G H1420604307Cataract, coppock-like604307C1852438OMIM1722410123680
HP:0000639HP:0000639Nystagmus0CSPP1 CL E G H79848475Acquired hypoprothrombinemiaORPHA147626193611654
HP:0000639HP:0000639Nystagmus0CSPP1 CL E G H79848475Acquired hypoprothrombinemiaORPHA168726193611654
HP:0000639HP:0000639Nystagmus0CTBP1 CL E G H14871941904p partial monosomy syndrome194190C1956097OMIM11742494602618
HP:0000639HP:0000639Nystagmus0CTBP1 CL E G H14871941904p partial monosomy syndrome194190C1956097OMIM11872494602618
HP:0000639HP:0000639Nystagmus0CTDP1 CL E G H915048431ORPHA13232498604927
HP:0000639HP:0000639Nystagmus0CTDP1 CL E G H915048431ORPHA13482498604927
HP:0000639HP:0000639Nystagmus0CTDP1 CL E G H9150604168Congenital Cataracts, Facial Dysmorphism, and Neuropathy604168C1858726OMIM13232498604927
HP:0000639HP:0000639Nystagmus0CTDP1 CL E G H9150604168Congenital Cataracts, Facial Dysmorphism, and Neuropathy604168C1858726OMIM13482498604927
HP:0000639HP:0000639Nystagmus0CTNNB1 CL E G H1499617572EXUDATIVE VITREORETINOPATHY 7617572C4539767OMIM12692514116806
HP:0000639HP:0000639Nystagmus0CTNNB1 CL E G H1499617572EXUDATIVE VITREORETINOPATHY 7617572C4539767OMIM13642514116806
HP:0000639HP:0000639Nystagmus0DARS CL E G H1615615281Hypomyelination with brainstem and spinal cord involvement and leg spasticity615281C3809008OMIM12678603084
HP:0000639HP:0000639Nystagmus0DARS2 CL E G H55157611105Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation611105C1970180OMIM123625538610956
HP:0000639HP:0000639Nystagmus0DARS2 CL E G H55157611105Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation611105C1970180OMIM126625538610956
HP:0000639HP:0000639Nystagmus0DCX CL E G H1641300067Lissencephaly, X-linked300067C1848199OMIM13572714300121
HP:0000639HP:0000639Nystagmus0DCX CL E G H1641300067Lissencephaly, X-linked300067C1848199OMIM13682714300121
HP:0000639HP:0000639Nystagmus0DGUOK CL E G H1716251880Mitochondrial DNA-depletion syndrome 3, hepatocerebral251880C3151513OMIM11402858601465
HP:0000639HP:0000639Nystagmus0DGUOK CL E G H1716251880Mitochondrial DNA-depletion syndrome 3, hepatocerebral251880C3151513OMIM11562858601465
HP:0000639HP:0000639Nystagmus0DHCR24 CL E G H171835107ORPHA11802859606418
HP:0000639HP:0000639Nystagmus0DHCR24 CL E G H171835107ORPHA11982859606418
HP:0000639HP:0000639Nystagmus0DHCR24 CL E G H1718602398Desmosterolosis602398C1865596OMIM11802859606418
HP:0000639HP:0000639Nystagmus0DHCR24 CL E G H1718602398Desmosterolosis602398C1865596OMIM11982859606418
HP:0000639HP:0000639Nystagmus0DHCR7 CL E G H1717270400Smith-Lemli-Opitz syndrome270400C0175694OMIM15112860602858
HP:0000639HP:0000639Nystagmus0DHCR7 CL E G H1717270400Smith-Lemli-Opitz syndrome270400C0175694OMIM15462860602858
HP:0000639HP:0000639Nystagmus0DHDDS CL E G H79947791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA119920603608172
HP:0000639HP:0000639Nystagmus0DHDDS CL E G H79947791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA125620603608172
HP:0000639HP:0000639Nystagmus0DHX38 CL E G H9785791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA132817211605584
HP:0000639HP:0000639Nystagmus0DHX38 CL E G H9785791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA147017211605584
HP:0000639HP:0000639Nystagmus0DKK1 CL E G H22943268882ORPHA1242891605189
HP:0000639HP:0000639Nystagmus0DLAT CL E G H1737245348Pyruvate dehydrogenase E2 deficiency245348C1855565OMIM11682896608770
HP:0000639HP:0000639Nystagmus0DLAT CL E G H1737245348Pyruvate dehydrogenase E2 deficiency245348C1855565OMIM11992896608770
HP:0000639HP:0000639Nystagmus0DPAGT1 CL E G H1798608093Congenital disorder of glycosylation type 1J608093C2931004OMIM11992995191350
HP:0000639HP:0000639Nystagmus0DPAGT1 CL E G H1798608093Congenital disorder of glycosylation type 1J608093C2931004OMIM12332995191350
HP:0000639HP:0000639Nystagmus0DPF2 CL E G H59771465ORPHA1379964601671
HP:0000639HP:0000639Nystagmus0DPF2 CL E G H59771465ORPHA1459964601671
HP:0000639HP:0000639Nystagmus0DPM1 CL E G H8813608799Congenital disorder of glycosylation type 1E608799C1837396OMIM11563005603503
HP:0000639HP:0000639Nystagmus0DPM1 CL E G H8813608799Congenital disorder of glycosylation type 1E608799C1837396OMIM11883005603503
HP:0000639HP:0000639Nystagmus0DPYD CL E G H1806274270Dihydropyrimidine dehydrogenase deficiency274270C2720286OMIM13383012612779
HP:0000639HP:0000639Nystagmus0DPYD CL E G H1806274270Dihydropyrimidine dehydrogenase deficiency274270C2720286OMIM13403012612779
HP:0000639HP:0000639Nystagmus0DTNBP1 CL E G H84062614076Hermansky-Pudlak syndrome 7614076C3279756OMIM112217328607145
HP:0000639HP:0000639Nystagmus0DTNBP1 CL E G H84062614076Hermansky-Pudlak syndrome 7614076C3279756OMIM118117328607145
HP:0000639HP:0000639Nystagmus0EBP CL E G H10682302960Chondrodysplasia punctata 2 X-linked dominant302960C0282102OMIM12653133300205
HP:0000639HP:0000639Nystagmus0EBP CL E G H10682302960Chondrodysplasia punctata 2 X-linked dominant302960C0282102OMIM12863133300205
HP:0000639HP:0000639Nystagmus0ECHS1 CL E G H1892255241ORPHA12413151602292
HP:0000639HP:0000639Nystagmus0ECHS1 CL E G H1892255241ORPHA13013151602292
HP:0000639HP:0000639Nystagmus0ECHS1 CL E G H1892616277Mitochondrial short-chain enoyl-coa hydratase 1 deficiency616277C4225391OMIM12413151602292
HP:0000639HP:0000639Nystagmus0ECHS1 CL E G H1892616277Mitochondrial short-chain enoyl-coa hydratase 1 deficiency616277C4225391OMIM13013151602292
HP:0000639HP:0000639Nystagmus0EDNRB CL E G H1910277580Waardenburg syndrome type 4A277580C1848519OMIM12333180131244
HP:0000639HP:0000639Nystagmus0EDNRB CL E G H1910277580Waardenburg syndrome type 4A277580C1848519OMIM12583180131244
HP:0000639HP:0000639Nystagmus0EEF2 CL E G H1938101112ORPHA11703214130610
HP:0000639HP:0000639Nystagmus0EEF2 CL E G H1938101112ORPHA11743214130610
HP:0000639HP:0000639Nystagmus0EEF2 CL E G H1938609306Spinocerebellar ataxia 26609306C1836395OMIM11703214130610
HP:0000639HP:0000639Nystagmus0EEF2 CL E G H1938609306Spinocerebellar ataxia 26609306C1836395OMIM11743214130610
HP:0000639HP:0000639Nystagmus0EFNB1 CL E G H1947304110Craniofrontonasal dysplasia304110C0220767OMIM12013226300035
HP:0000639HP:0000639Nystagmus0EFNB1 CL E G H1947304110Craniofrontonasal dysplasia304110C0220767OMIM12103226300035
HP:0000639HP:0000639Nystagmus0EIF2S3 CL E G H196885282ORPHA11903267300161
HP:0000639HP:0000639Nystagmus0EIF2S3 CL E G H196885282ORPHA11963267300161
HP:0000639HP:0000639Nystagmus0ELOVL4 CL E G H67851955ORPHA117814415605512
HP:0000639HP:0000639Nystagmus0ELOVL4 CL E G H67851955ORPHA121314415605512
HP:0000639HP:0000639Nystagmus0ELOVL4 CL E G H6785133190Erythrokeratodermia with ataxia133190C1851481OMIM117814415605512
HP:0000639HP:0000639Nystagmus0ELOVL4 CL E G H6785133190Erythrokeratodermia with ataxia133190C1851481OMIM121314415605512
HP:0000639HP:0000639Nystagmus0ELOVL5 CL E G H60481423296ORPHA14921308611805
HP:0000639HP:0000639Nystagmus0ELOVL5 CL E G H60481423296ORPHA15221308611805
HP:0000639HP:0000639Nystagmus0ELOVL5 CL E G H60481615957Spinocerebellar ataxia 38615957C4014812OMIM14921308611805
HP:0000639HP:0000639Nystagmus0ELOVL5 CL E G H60481615957Spinocerebellar ataxia 38615957C4014812OMIM15221308611805
HP:0000639HP:0000639Nystagmus0EPG5 CL E G H577241493Congenital mesoblastic nephromaORPHA180129331615068
HP:0000639HP:0000639Nystagmus0EPG5 CL E G H577241493Congenital mesoblastic nephromaORPHA1103329331615068
HP:0000639HP:0000639Nystagmus0EPG5 CL E G H57724242840Vici syndrome242840C1855772OMIM180129331615068
HP:0000639HP:0000639Nystagmus0EPG5 CL E G H57724242840Vici syndrome242840C1855772OMIM1103329331615068
HP:0000639HP:0000639Nystagmus0EPRS CL E G H2058617951LEUKODYSTROPHY, HYPOMYELINATING, 15617951CN244566OMIM13418138295
HP:0000639HP:0000639Nystagmus0ERCC1 CL E G H2067610758Cerebrooculofacioskeletal syndrome 4610758C1853100OMIM11063433126380
HP:0000639HP:0000639Nystagmus0ERCC1 CL E G H2067610758Cerebrooculofacioskeletal syndrome 4610758C1853100OMIM11103433126380
HP:0000639HP:0000639Nystagmus0ERCC2 CL E G H2068220295ORPHA13603434126340
HP:0000639HP:0000639Nystagmus0ERCC2 CL E G H2068220295ORPHA14793434126340
HP:0000639HP:0000639Nystagmus0ERCC2 CL E G H2068601675Trichothiodystrophy 1, photosensitive601675C1866504OMIM13603434126340
HP:0000639HP:0000639Nystagmus0ERCC2 CL E G H2068601675Trichothiodystrophy 1, photosensitive601675C1866504OMIM14793434126340
HP:0000639HP:0000639Nystagmus0ERCC3 CL E G H2071220295ORPHA11863435133510
HP:0000639HP:0000639Nystagmus0ERCC3 CL E G H2071220295ORPHA12833435133510
HP:0000639HP:0000639Nystagmus0ERCC4 CL E G H2072220295ORPHA14693436133520
HP:0000639HP:0000639Nystagmus0ERCC4 CL E G H2072220295ORPHA15383436133520
HP:0000639HP:0000639Nystagmus0ERCC5 CL E G H2073220295ORPHA13613437133530
HP:0000639HP:0000639Nystagmus0ERCC5 CL E G H2073220295ORPHA13743437133530
HP:0000639HP:0000639Nystagmus0ERCC6 CL E G H2074214150Cerebro-oculo-facio-skeletal syndrome214150C0220722OMIM18253438609413
HP:0000639HP:0000639Nystagmus0ERCC6 CL E G H2074214150Cerebro-oculo-facio-skeletal syndrome214150C0220722OMIM19463438609413
HP:0000639HP:0000639Nystagmus0ERCC6 CL E G H2074133540Cockayne syndrome B133540C0751038OMIM18253438609413
HP:0000639HP:0000639Nystagmus0ERCC6 CL E G H2074133540Cockayne syndrome B133540C0751038OMIM19463438609413
HP:0000639HP:0000639Nystagmus0ERCC8 CL E G H1161216400Cockayne syndrome type A216400C0751039OMIM13103439609412
HP:0000639HP:0000639Nystagmus0ERCC8 CL E G H1161216400Cockayne syndrome type A216400C0751039OMIM13433439609412
HP:0000639HP:0000639Nystagmus0ERMARD CL E G H5578075857ORPHA119121056615532
HP:0000639HP:0000639Nystagmus0ERMARD CL E G H5578075857ORPHA122021056615532
HP:0000639HP:0000639Nystagmus0EXOSC3 CL E G H51010614678Pontocerebellar hypoplasia, type 1b614678C3553449OMIM116117944606489
HP:0000639HP:0000639Nystagmus0EXOSC3 CL E G H51010614678Pontocerebellar hypoplasia, type 1b614678C3553449OMIM117517944606489
HP:0000639HP:0000639Nystagmus0EXOSC9 CL E G H5393618065PONTOCEREBELLAR HYPOPLASIA, TYPE 1D618065CN252648OMIM1489137606180
HP:0000639HP:0000639Nystagmus0EXOSC9 CL E G H5393618065PONTOCEREBELLAR HYPOPLASIA, TYPE 1D618065CN252648OMIM11089137606180
HP:0000639HP:0000639Nystagmus0EXT2 CL E G H213252022ORPHA13793513608210
HP:0000639HP:0000639Nystagmus0EXT2 CL E G H213252022ORPHA14663513608210
HP:0000639HP:0000639Nystagmus0EYS CL E G H346007791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1206021555612424
HP:0000639HP:0000639Nystagmus0EYS CL E G H346007791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1258921555612424
HP:0000639HP:0000639Nystagmus0FA2H CL E G H79152612319Spastic paraplegia 35612319C3668943OMIM124121197611026
HP:0000639HP:0000639Nystagmus0FA2H CL E G H79152612319Spastic paraplegia 35612319C3668943OMIM127521197611026
HP:0000639HP:0000639Nystagmus0FAM161A CL E G H84140791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA136225808613596
HP:0000639HP:0000639Nystagmus0FAM161A CL E G H84140791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA145625808613596
HP:0000639HP:0000639Nystagmus0FDXR CL E G H2232617717AUDITORY NEUROPATHY AND OPTIC ATROPHY617717C4521678OMIM1733642103270
HP:0000639HP:0000639Nystagmus0FDXR CL E G H2232617717AUDITORY NEUROPATHY AND OPTIC ATROPHY617717C4521678OMIM1793642103270
HP:0000639HP:0000639Nystagmus0FGFR1 CL E G H22603157Lachiewicz Sibley syndromeORPHA15303688136350
HP:0000639HP:0000639Nystagmus0FGFR1 CL E G H22603157Lachiewicz Sibley syndromeORPHA15973688136350
HP:0000639HP:0000639Nystagmus0FGFRL1 CL E G H538341941904p partial monosomy syndrome194190C1956097OMIM12143693605830
HP:0000639HP:0000639Nystagmus0FGFRL1 CL E G H538341941904p partial monosomy syndrome194190C1956097OMIM12673693605830
HP:0000639HP:0000639Nystagmus0FMR1 CL E G H2332300623Fragile X tremor/ataxia syndrome300623C1839780OMIM13173775309550
HP:0000639HP:0000639Nystagmus0FMR1 CL E G H2332300623Fragile X tremor/ataxia syndrome300623C1839780OMIM13223775309550
HP:0000639HP:0000639Nystagmus0FOXC1 CL E G H2296250923ORPHA12533800601090
HP:0000639HP:0000639Nystagmus0FOXC1 CL E G H2296250923ORPHA13283800601090
HP:0000639HP:0000639Nystagmus0FOXE3 CL E G H2301610256Congenital primary aphakia610256C1853230OMIM11523808601094
HP:0000639HP:0000639Nystagmus0FOXE3 CL E G H2301610256Congenital primary aphakia610256C1853230OMIM11763808601094
HP:0000639HP:0000639Nystagmus0FOXL2 CL E G H668110100Blepharophimosis, ptosis, and epicanthus inversus110100C0220663OMIM11731092605597
HP:0000639HP:0000639Nystagmus0FOXL2 CL E G H668110100Blepharophimosis, ptosis, and epicanthus inversus110100C0220663OMIM11751092605597
HP:0000639HP:0000639Nystagmus0FOXP1 CL E G H27086613670Mental retardation with language impairment and with or without autistic features613670C3150923OMIM13523823605515
HP:0000639HP:0000639Nystagmus0FOXP1 CL E G H27086613670Mental retardation with language impairment and with or without autistic features613670C3150923OMIM13693823605515
HP:0000639HP:0000639Nystagmus0FOXRED1 CL E G H55572255241ORPHA121026927613622
HP:0000639HP:0000639Nystagmus0FOXRED1 CL E G H55572255241ORPHA123126927613622
HP:0000639HP:0000639Nystagmus0FRMPD4 CL E G H9758300983Mental retardation, X-linked 104300983C4310817OMIM131829007300838
HP:0000639HP:0000639Nystagmus0FRMPD4 CL E G H9758300983Mental retardation, X-linked 104300983C4310817OMIM133629007300838
HP:0000639HP:0000639Nystagmus0FSCN2 CL E G H25794791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA12773960607643
HP:0000639HP:0000639Nystagmus0FSCN2 CL E G H25794791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA13863960607643
HP:0000639HP:0000639Nystagmus0FXN CL E G H239595ORPHA11313951606829
HP:0000639HP:0000639Nystagmus0FXN CL E G H2395229300Friedreich ataxia 1229300C1856689OMIM11313951606829
HP:0000639HP:0000639Nystagmus0GALC CL E G H2581245200Galactosylceramide beta-galactosidase deficiency245200C0023521OMIM17464115606890
HP:0000639HP:0000639Nystagmus0GALC CL E G H2581245200Galactosylceramide beta-galactosidase deficiency245200C0023521OMIM18434115606890
HP:0000639HP:0000639Nystagmus0GAN CL E G H8139256850Giant axonal neuropathy256850C1850386OMIM15334137605379
HP:0000639HP:0000639Nystagmus0GAN CL E G H8139256850Giant axonal neuropathy256850C1850386OMIM15944137605379
HP:0000639HP:0000639Nystagmus0GBA2 CL E G H57704352641ORPHA124618986609471
HP:0000639HP:0000639Nystagmus0GBA2 CL E G H57704352641ORPHA126218986609471
HP:0000639HP:0000639Nystagmus0GBA2 CL E G H57704614409Spastic paraplegia 46, autosomal recessive614409C2828721OMIM124618986609471
HP:0000639HP:0000639Nystagmus0GBA2 CL E G H57704614409Spastic paraplegia 46, autosomal recessive614409C2828721OMIM126218986609471
HP:0000639HP:0000639Nystagmus0GDF3 CL E G H9573613703Microphthalmia, isolated, with coloboma 6613703C3150968OMIM1774218606522
HP:0000639HP:0000639Nystagmus0GDF3 CL E G H9573613703Microphthalmia, isolated, with coloboma 6613703C3150968OMIM1824218606522
HP:0000639HP:0000639Nystagmus0GDF6 CL E G H39225565ORPHA12124221601147
HP:0000639HP:0000639Nystagmus0GDF6 CL E G H39225565ORPHA12704221601147
HP:0000639HP:0000639Nystagmus0GDF6 CL E G H392255613703Microphthalmia, isolated, with coloboma 6613703C3150968OMIM12124221601147
HP:0000639HP:0000639Nystagmus0GDF6 CL E G H392255613703Microphthalmia, isolated, with coloboma 6613703C3150968OMIM12704221601147
HP:0000639HP:0000639Nystagmus0GFM1 CL E G H85476609060Combined oxidative phosphorylation deficiency 1609060C1836797OMIM138513780606639
HP:0000639HP:0000639Nystagmus0GFM1 CL E G H85476609060Combined oxidative phosphorylation deficiency 1609060C1836797OMIM143213780606639
HP:0000639HP:0000639Nystagmus0GJB1 CL E G H27051175CDK4 linked melanomaORPHA17324283304040
HP:0000639HP:0000639Nystagmus0GJB1 CL E G H27051175CDK4 linked melanomaORPHA17714283304040
HP:0000639HP:0000639Nystagmus0GLRX5 CL E G H51218401866ORPHA16020134609588
HP:0000639HP:0000639Nystagmus0GLRX5 CL E G H51218401866ORPHA16820134609588
HP:0000639HP:0000639Nystagmus0GLRX5 CL E G H51218616859Spasticity, childhood-onset, with hyperglycinemia616859C4225178OMIM16020134609588
HP:0000639HP:0000639Nystagmus0GLRX5 CL E G H51218616859Spasticity, childhood-onset, with hyperglycinemia616859C4225178OMIM16820134609588
HP:0000639HP:0000639Nystagmus0GNAS CL E G H277879443ORPHA13334392139320
HP:0000639HP:0000639Nystagmus0GNAS CL E G H277879443ORPHA13714392139320
HP:0000639HP:0000639Nystagmus0GNAS CL E G H277879444ORPHA13334392139320
HP:0000639HP:0000639Nystagmus0GNAS CL E G H277879444ORPHA13714392139320
HP:0000639HP:0000639Nystagmus0GNAS CL E G H277894089ORPHA13334392139320
HP:0000639HP:0000639Nystagmus0GNAS CL E G H277894089ORPHA13714392139320
HP:0000639HP:0000639Nystagmus0GNAS CL E G H2778103580Pseudohypoparathyroidism103580C0033806OMIM13334392139320
HP:0000639HP:0000639Nystagmus0GNAS CL E G H2778103580Pseudohypoparathyroidism103580C0033806OMIM13714392139320
HP:0000639HP:0000639Nystagmus0GNAS CL E G H2778612462Pseudohypoparathyroidism type 1C612462C2932716OMIM13334392139320
HP:0000639HP:0000639Nystagmus0GNAS CL E G H2778612462Pseudohypoparathyroidism type 1C612462C2932716OMIM13714392139320
HP:0000639HP:0000639Nystagmus0GNAS CL E G H2778612463Pseudopseudohypoparathyroidism612463C0033835OMIM13334392139320
HP:0000639HP:0000639Nystagmus0GNAS CL E G H2778612463Pseudopseudohypoparathyroidism612463C0033835OMIM13714392139320
HP:0000639HP:0000639Nystagmus0GNAT2 CL E G H2780613856Achromatopsia 4613856C1841721OMIM11314394139340
HP:0000639HP:0000639Nystagmus0GNAT2 CL E G H2780613856Achromatopsia 4613856C1841721OMIM11584394139340
HP:0000639HP:0000639Nystagmus0GNB1 CL E G H2782616973Mental retardation, autosomal dominant 42616973C4310774OMIM12174396139380
HP:0000639HP:0000639Nystagmus0GNB1 CL E G H2782616973Mental retardation, autosomal dominant 42616973C4310774OMIM12504396139380
HP:0000639HP:0000639Nystagmus0GNB5 CL E G H10681617173Intellectual developmental disorder with cardiac arrhythmia617173C4310682OMIM11304401604447
HP:0000639HP:0000639Nystagmus0GNB5 CL E G H10681617173Intellectual developmental disorder with cardiac arrhythmia617173C4310682OMIM11334401604447
HP:0000639HP:0000639Nystagmus0GPAA1 CL E G H8733617810GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15617810C4540520OMIM1954446603048
HP:0000639HP:0000639Nystagmus0GPAA1 CL E G H8733617810GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15617810C4540520OMIM12274446603048
HP:0000639HP:0000639Nystagmus0GPR143 CL E G H493554ORPHA129720145300808
HP:0000639HP:0000639Nystagmus0GPR143 CL E G H493554ORPHA137420145300808
HP:0000639HP:0000639Nystagmus0GPR179 CL E G H440435614565Congenital stationary night blindness, type 1E614565C3281215OMIM132031371614515
HP:0000639HP:0000639Nystagmus0GPR179 CL E G H440435614565Congenital stationary night blindness, type 1E614565C3281215OMIM168131371614515
HP:0000639HP:0000639Nystagmus0GRIA4 CL E G H2893617864NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT SEIZURES AND GAIT ABNORMALITIES617864CN800195OMIM1474574138246
HP:0000639HP:0000639Nystagmus0GRIA4 CL E G H2893617864NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT SEIZURES AND GAIT ABNORMALITIES617864CN800195OMIM1514574138246
HP:0000639HP:0000639Nystagmus0GRID2 CL E G H2895616204Spinocerebellar ataxia, autosomal recessive 18616204C4015505OMIM11444576602368
HP:0000639HP:0000639Nystagmus0GRID2 CL E G H2895616204Spinocerebellar ataxia, autosomal recessive 18616204C4015505OMIM11514576602368
HP:0000639HP:0000639Nystagmus0GUCA1B CL E G H2979791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11344679602275
HP:0000639HP:0000639Nystagmus0GUCA1B CL E G H2979791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11654679602275
HP:0000639HP:0000639Nystagmus0GUCY2D CL E G H300065ORPHA15934689600179
HP:0000639HP:0000639Nystagmus0GUCY2D CL E G H300065ORPHA17314689600179
HP:0000639HP:0000639Nystagmus0GUCY2D CL E G H3000601777Cone-rod dystrophy 6601777C1866293OMIM15934689600179
HP:0000639HP:0000639Nystagmus0GUCY2D CL E G H3000601777Cone-rod dystrophy 6601777C1866293OMIM17314689600179
HP:0000639HP:0000639Nystagmus0GUCY2D CL E G H3000204000Leber congenital amaurosis 1204000C2931258OMIM15934689600179
HP:0000639HP:0000639Nystagmus0GUCY2D CL E G H3000204000Leber congenital amaurosis 1204000C2931258OMIM17314689600179
HP:0000639HP:0000639Nystagmus0HECW2 CL E G H57520617268Neurodevelopmental disorder with hypotonia, seizures, and absent language617268C4310643OMIM119929853617245
HP:0000639HP:0000639Nystagmus0HECW2 CL E G H57520617268Neurodevelopmental disorder with hypotonia, seizures, and absent language617268C4310643OMIM120329853617245
HP:0000639HP:0000639Nystagmus0HESX1 CL E G H88203157Lachiewicz Sibley syndromeORPHA1634877601802
HP:0000639HP:0000639Nystagmus0HESX1 CL E G H88203157Lachiewicz Sibley syndromeORPHA1744877601802
HP:0000639HP:0000639Nystagmus0HGSNAT CL E G H138050791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA159426527610453
HP:0000639HP:0000639Nystagmus0HGSNAT CL E G H138050791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA169826527610453
HP:0000639HP:0000639Nystagmus0HIBCH CL E G H26275250620Beta-hydroxyisobutyryl-CoA deacylase deficiency250620C0342738OMIM11374908610690
HP:0000639HP:0000639Nystagmus0HIBCH CL E G H26275250620Beta-hydroxyisobutyryl-CoA deacylase deficiency250620C0342738OMIM11534908610690
HP:0000639HP:0000639Nystagmus0HIKESHI CL E G H51501616881Leukodystrophy, hypomyelinating, 13616881C4225170OMIM13526938614908
HP:0000639HP:0000639Nystagmus0HIKESHI CL E G H51501616881Leukodystrophy, hypomyelinating, 13616881C4225170OMIM14326938614908
HP:0000639HP:0000639Nystagmus0HMX1 CL E G H3166612109Oculoauricular syndrome612109C2677500OMIM11945017142992
HP:0000639HP:0000639Nystagmus0HMX1 CL E G H3166612109Oculoauricular syndrome612109C2677500OMIM12575017142992
HP:0000639HP:0000639Nystagmus0HPS1 CL E G H3257203300Hermansky-Pudlak syndrome 1203300C2931875OMIM14295163604982
HP:0000639HP:0000639Nystagmus0HPS1 CL E G H3257203300Hermansky-Pudlak syndrome 1203300C2931875OMIM15185163604982
HP:0000639HP:0000639Nystagmus0HPS3 CL E G H84343614072Hermansky-Pudlak syndrome 3614072C3888001OMIM143315597606118
HP:0000639HP:0000639Nystagmus0HPS3 CL E G H84343614072Hermansky-Pudlak syndrome 3614072C3888001OMIM153415597606118
HP:0000639HP:0000639Nystagmus0HPS6 CL E G H79803614075Hermansky-Pudlak syndrome 6614075C3888007OMIM113018817607522
HP:0000639HP:0000639Nystagmus0HPS6 CL E G H79803614075Hermansky-Pudlak syndrome 6614075C3888007OMIM122218817607522
HP:0000639HP:0000639Nystagmus0HSD17B10 CL E G H30283004382-methyl-3-hydroxybutyric aciduria300438C3266731OMIM12024800300256
HP:0000639HP:0000639Nystagmus0HSD17B10 CL E G H30283004382-methyl-3-hydroxybutyric aciduria300438C3266731OMIM12134800300256
HP:0000639HP:0000639Nystagmus0HSD17B4 CL E G H3295261515Bifunctional peroxisomal enzyme deficiency261515C0342870OMIM15605213601860
HP:0000639HP:0000639Nystagmus0HSD17B4 CL E G H3295261515Bifunctional peroxisomal enzyme deficiency261515C0342870OMIM16395213601860
HP:0000639HP:0000639Nystagmus0HSD17B4 CL E G H3295233400Perrault syndrome 1233400OMIM15605213601860
HP:0000639HP:0000639Nystagmus0HSD17B4 CL E G H3295233400Perrault syndrome 1233400OMIM16395213601860
HP:0000639HP:0000639Nystagmus0HSPD1 CL E G H3329612233Leukodystrophy, hypomyelinating, 4612233C2677109OMIM11575261118190
HP:0000639HP:0000639Nystagmus0HSPD1 CL E G H3329612233Leukodystrophy, hypomyelinating, 4612233C2677109OMIM11815261118190
HP:0000639HP:0000639Nystagmus0HYLS1 CL E G H219844475Acquired hypoprothrombinemiaORPHA117726558610693
HP:0000639HP:0000639Nystagmus0HYLS1 CL E G H219844475Acquired hypoprothrombinemiaORPHA119926558610693
HP:0000639HP:0000639Nystagmus0IARS2 CL E G H55699616007Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia616007C4014942OMIM117729685612801
HP:0000639HP:0000639Nystagmus0IARS2 CL E G H55699616007Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia616007C4014942OMIM124629685612801
HP:0000639HP:0000639Nystagmus0IBA57 CL E G H200205615330Multiple mitochondrial dysfunctions syndrome 3615330C3809165OMIM114027302615316
HP:0000639HP:0000639Nystagmus0IBA57 CL E G H200205615330Multiple mitochondrial dysfunctions syndrome 3615330C3809165OMIM116127302615316
HP:0000639HP:0000639Nystagmus0IDH3B CL E G H3420791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11595385604526
HP:0000639HP:0000639Nystagmus0IDH3B CL E G H3420791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA12025385604526
HP:0000639HP:0000639Nystagmus0IFT122 CL E G H55764218330Cranioectodermal dysplasia 1218330C0432235OMIM131713556606045
HP:0000639HP:0000639Nystagmus0IFT122 CL E G H55764218330Cranioectodermal dysplasia 1218330C0432235OMIM139113556606045
HP:0000639HP:0000639Nystagmus0IFT140 CL E G H974265ORPHA185129077614620
HP:0000639HP:0000639Nystagmus0IFT140 CL E G H974265ORPHA1109829077614620
HP:0000639HP:0000639Nystagmus0IFT140 CL E G H9742791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA185129077614620
HP:0000639HP:0000639Nystagmus0IFT140 CL E G H9742791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1109829077614620
HP:0000639HP:0000639Nystagmus0IFT140 CL E G H9742266920Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia266920C1849437OMIM185129077614620
HP:0000639HP:0000639Nystagmus0IFT140 CL E G H9742266920Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia266920C1849437OMIM1109829077614620
HP:0000639HP:0000639Nystagmus0IFT172 CL E G H26160110ORPHA158730391607386
HP:0000639HP:0000639Nystagmus0IFT172 CL E G H26160110ORPHA180530391607386
HP:0000639HP:0000639Nystagmus0IFT172 CL E G H26160791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA158730391607386
HP:0000639HP:0000639Nystagmus0IFT172 CL E G H26160791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA180530391607386
HP:0000639HP:0000639Nystagmus0IFT27 CL E G H11020110ORPHA18118626615870
HP:0000639HP:0000639Nystagmus0IFT27 CL E G H11020110ORPHA110418626615870
HP:0000639HP:0000639Nystagmus0IFT88 CL E G H8100791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA16120606600595
HP:0000639HP:0000639Nystagmus0IFT88 CL E G H8100791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA110720606600595
HP:0000639HP:0000639Nystagmus0IGBP1 CL E G H347652055ORPHA11535461300139
HP:0000639HP:0000639Nystagmus0IGBP1 CL E G H347652055ORPHA11565461300139
HP:0000639HP:0000639Nystagmus0IMPDH1 CL E G H361465ORPHA12836052146690
HP:0000639HP:0000639Nystagmus0IMPDH1 CL E G H361465ORPHA13456052146690
HP:0000639HP:0000639Nystagmus0IMPDH1 CL E G H3614791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA12836052146690
HP:0000639HP:0000639Nystagmus0IMPDH1 CL E G H3614791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA13456052146690
HP:0000639HP:0000639Nystagmus0IMPDH1 CL E G H3614613837Leber congenital amaurosis 11613837C1840284OMIM12836052146690
HP:0000639HP:0000639Nystagmus0IMPDH1 CL E G H3614613837Leber congenital amaurosis 11613837C1840284OMIM13456052146690
HP:0000639HP:0000639Nystagmus0IMPG2 CL E G H50939791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA149818362607056
HP:0000639HP:0000639Nystagmus0IMPG2 CL E G H50939791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA162618362607056
HP:0000639HP:0000639Nystagmus0INPP5E CL E G H56623220493ORPHA146621474613037
HP:0000639HP:0000639Nystagmus0INPP5E CL E G H56623220493ORPHA155921474613037
HP:0000639HP:0000639Nystagmus0INPP5E CL E G H56623475Acquired hypoprothrombinemiaORPHA146621474613037
HP:0000639HP:0000639Nystagmus0INPP5E CL E G H56623475Acquired hypoprothrombinemiaORPHA155921474613037
HP:0000639HP:0000639Nystagmus0INPP5E CL E G H566231454Common atrioventricular canalC0221215ORPHA146621474613037
HP:0000639HP:0000639Nystagmus0INPP5E CL E G H566231454Common atrioventricular canalC0221215ORPHA155921474613037
HP:0000639HP:0000639Nystagmus0INPP5K CL E G H51763559ORPHA114533882607875
HP:0000639HP:0000639Nystagmus0INPP5K CL E G H51763559ORPHA115333882607875
HP:0000639HP:0000639Nystagmus0IQCB1 CL E G H965765ORPHA127628949609237
HP:0000639HP:0000639Nystagmus0IQCB1 CL E G H965765ORPHA135228949609237
HP:0000639HP:0000639Nystagmus0IRF2BPL CL E G H64207618088NEURODEVELOPMENTAL DISORDER WITH REGRESSION, ABNORMAL MOVEMENTS, LOSS OF SPEECH, AND SEIZURES618088CN252701OMIM110914282611720
HP:0000639HP:0000639Nystagmus0IRF2BPL CL E G H64207618088NEURODEVELOPMENTAL DISORDER WITH REGRESSION, ABNORMAL MOVEMENTS, LOSS OF SPEECH, AND SEIZURES618088CN252701OMIM111614282611720
HP:0000639HP:0000639Nystagmus0ISCA2 CL E G H122961616370Multiple mitochondrial dysfunctions syndrome 4616370C4225348OMIM13719857615317
HP:0000639HP:0000639Nystagmus0ISCA2 CL E G H122961616370Multiple mitochondrial dysfunctions syndrome 4616370C4225348OMIM14519857615317
HP:0000639HP:0000639Nystagmus0ITPR1 CL E G H3708208513ORPHA18956180147265
HP:0000639HP:0000639Nystagmus0ITPR1 CL E G H3708208513ORPHA19696180147265
HP:0000639HP:0000639Nystagmus0ITPR1 CL E G H3708206700Gillespie syndrome206700C0431401OMIM18956180147265
HP:0000639HP:0000639Nystagmus0ITPR1 CL E G H3708206700Gillespie syndrome206700C0431401OMIM19696180147265
HP:0000639HP:0000639Nystagmus0ITPR1 CL E G H3708117360Spinocerebellar ataxia 29117360C1861732OMIM18956180147265
HP:0000639HP:0000639Nystagmus0ITPR1 CL E G H3708117360Spinocerebellar ataxia 29117360C1861732OMIM19696180147265
HP:0000639HP:0000639Nystagmus0KCNC3 CL E G H374898768ORPHA11266235176264
HP:0000639HP:0000639Nystagmus0KCNC3 CL E G H374898768ORPHA11666235176264
HP:0000639HP:0000639Nystagmus0KCNC3 CL E G H3748605259Spinocerebellar ataxia 13605259C1854488OMIM11266235176264
HP:0000639HP:0000639Nystagmus0KCNC3 CL E G H3748605259Spinocerebellar ataxia 13605259C1854488OMIM11666235176264
HP:0000639HP:0000639Nystagmus0KCNJ13 CL E G H376965ORPHA11466259603208
HP:0000639HP:0000639Nystagmus0KCNJ13 CL E G H376965ORPHA11746259603208
HP:0000639HP:0000639Nystagmus0KCNJ13 CL E G H3769614186Leber congenital amaurosis 16614186C3280062OMIM11466259603208
HP:0000639HP:0000639Nystagmus0KCNJ13 CL E G H3769614186Leber congenital amaurosis 16614186C3280062OMIM11746259603208
HP:0000639HP:0000639Nystagmus0KIAA0556 CL E G H23247475Acquired hypoprothrombinemiaORPHA129068616650
HP:0000639HP:0000639Nystagmus0KIAA0556 CL E G H23247616784Joubert syndrome 26616784C4084843OMIM129068616650
HP:0000639HP:0000639Nystagmus0KIAA0586 CL E G H9786475Acquired hypoprothrombinemiaORPHA133819960610178
HP:0000639HP:0000639Nystagmus0KIAA0586 CL E G H9786475Acquired hypoprothrombinemiaORPHA166219960610178
HP:0000639HP:0000639Nystagmus0KIAA0753 CL E G H98512754ORPHA112229110617112
HP:0000639HP:0000639Nystagmus0KIAA0753 CL E G H98512754ORPHA118429110617112
HP:0000639HP:0000639Nystagmus0KIAA1549 CL E G H57670791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA160922219613344
HP:0000639HP:0000639Nystagmus0KIAA1549 CL E G H57670791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA183722219613344
HP:0000639HP:0000639Nystagmus0KIDINS220 CL E G H57498521390ORPHA114629508615759
HP:0000639HP:0000639Nystagmus0KIDINS220 CL E G H57498521390ORPHA122229508615759
HP:0000639HP:0000639Nystagmus0KIDINS220 CL E G H57498617296Spastic paraplegia, intellectual disability, nystagmus, and obesity617296C4284592OMIM114629508615759
HP:0000639HP:0000639Nystagmus0KIDINS220 CL E G H57498617296Spastic paraplegia, intellectual disability, nystagmus, and obesity617296C4284592OMIM122229508615759
HP:0000639HP:0000639Nystagmus0KIF11 CL E G H3832152950Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation152950C1835265OMIM14056388148760
HP:0000639HP:0000639Nystagmus0KIF11 CL E G H3832152950Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation152950C1835265OMIM14986388148760
HP:0000639HP:0000639Nystagmus0KIF5A CL E G H3798617235Myoclonus, intractable, neonatal617235C4310658OMIM13696323602821
HP:0000639HP:0000639Nystagmus0KIF5A CL E G H3798617235Myoclonus, intractable, neonatal617235C4310658OMIM15486323602821
HP:0000639HP:0000639Nystagmus0KIF7 CL E G H3746542754ORPHA154030497611254
HP:0000639HP:0000639Nystagmus0KIF7 CL E G H3746542754ORPHA181330497611254
HP:0000639HP:0000639Nystagmus0KIZ CL E G H55857791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA118215865615757
HP:0000639HP:0000639Nystagmus0KIZ CL E G H55857791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA126215865615757
HP:0000639HP:0000639Nystagmus0KLC2 CL E G H64837609541Spastic paraplegia, optic atrophy, and neuropathy609541C1836010OMIM13120716611729
HP:0000639HP:0000639Nystagmus0KLC2 CL E G H64837609541Spastic paraplegia, optic atrophy, and neuropathy609541C1836010OMIM14520716611729
HP:0000639HP:0000639Nystagmus0KLHL7 CL E G H55975791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA117615646611119
HP:0000639HP:0000639Nystagmus0KLHL7 CL E G H55975791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA121115646611119
HP:0000639HP:0000639Nystagmus0KRAS CL E G H38451340Chromosome 4, monosomy 4qC0265404ORPHA13316407190070
HP:0000639HP:0000639Nystagmus0KRAS CL E G H38451340Chromosome 4, monosomy 4qC0265404ORPHA13416407190070
HP:0000639HP:0000639Nystagmus0L2HGDH CL E G H79944236792L-2-hydroxyglutaric aciduria236792C1855995OMIM112420499609584
HP:0000639HP:0000639Nystagmus0L2HGDH CL E G H79944236792L-2-hydroxyglutaric aciduria236792C1855995OMIM116020499609584
HP:0000639HP:0000639Nystagmus0LAGE3 CL E G H8270301006GALLOWAY-MOWAT SYNDROME 2, X-LINKED301006C4538784OMIM122826058300060
HP:0000639HP:0000639Nystagmus0LAGE3 CL E G H8270301006GALLOWAY-MOWAT SYNDROME 2, X-LINKED301006C4538784OMIM123526058300060
HP:0000639HP:0000639Nystagmus0LAMA1 CL E G H284217615960Poretti-Boltshauser syndrome615960C4014821OMIM14716481150320
HP:0000639HP:0000639Nystagmus0LAMA1 CL E G H284217615960Poretti-Boltshauser syndrome615960C4014821OMIM16266481150320
HP:0000639HP:0000639Nystagmus0LAMB2 CL E G H3913614199Nephrotic syndrome, type 5, with or without ocular abnormalities614199C3280113OMIM14706487150325
HP:0000639HP:0000639Nystagmus0LAMB2 CL E G H3913614199Nephrotic syndrome, type 5, with or without ocular abnormalities614199C3280113OMIM16006487150325
HP:0000639HP:0000639Nystagmus0LCA5 CL E G H16769165ORPHA137431923611408
HP:0000639HP:0000639Nystagmus0LCA5 CL E G H16769165ORPHA145831923611408
HP:0000639HP:0000639Nystagmus0LCA5 CL E G H167691604537Leber congenital amaurosis 5604537C1858301OMIM137431923611408
HP:0000639HP:0000639Nystagmus0LCA5 CL E G H167691604537Leber congenital amaurosis 5604537C1858301OMIM145831923611408
HP:0000639HP:0000639Nystagmus0LETM1 CL E G H39541941904p partial monosomy syndrome194190C1956097OMIM11886556604407
HP:0000639HP:0000639Nystagmus0LETM1 CL E G H39541941904p partial monosomy syndrome194190C1956097OMIM12286556604407
HP:0000639HP:0000639Nystagmus0LIM2 CL E G H3982615277Cataract 19, multiple types615277C3809004OMIM1716610154045
HP:0000639HP:0000639Nystagmus0LIM2 CL E G H3982615277Cataract 19, multiple types615277C3809004OMIM1756610154045
HP:0000639HP:0000639Nystagmus0LIPT1 CL E G H51601255241ORPHA17329569610284
HP:0000639HP:0000639Nystagmus0LIPT1 CL E G H51601255241ORPHA19029569610284
HP:0000639HP:0000639Nystagmus0LMNB1 CL E G H400199027ORPHA11296637150340
HP:0000639HP:0000639Nystagmus0LMNB1 CL E G H400199027ORPHA11516637150340
HP:0000639HP:0000639Nystagmus0LMNB1 CL E G H4001169500Leukodystrophy, adult-onset, autosomal dominant169500C1868512OMIM11296637150340
HP:0000639HP:0000639Nystagmus0LMNB1 CL E G H4001169500Leukodystrophy, adult-onset, autosomal dominant169500C1868512OMIM11516637150340
HP:0000639HP:0000639Nystagmus0LRAT CL E G H922765ORPHA11826685604863
HP:0000639HP:0000639Nystagmus0LRAT CL E G H922765ORPHA12056685604863
HP:0000639HP:0000639Nystagmus0LRAT CL E G H9227791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11826685604863
HP:0000639HP:0000639Nystagmus0LRAT CL E G H9227791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA12056685604863
HP:0000639HP:0000639Nystagmus0LRAT CL E G H9227613341Leber congenital amaurosis 14613341C2750063OMIM11826685604863
HP:0000639HP:0000639Nystagmus0LRAT CL E G H9227613341Leber congenital amaurosis 14613341C2750063OMIM12056685604863
HP:0000639HP:0000639Nystagmus0LRMDA CL E G H83938615179Albinism, oculocutaneous, type VII615179C3808786OMIM13223405614537
HP:0000639HP:0000639Nystagmus0LYRM7 CL E G H90624615838Mitochondrial complex III deficiency, nuclear type 8615838C4014440OMIM16328072615831
HP:0000639HP:0000639Nystagmus0LYRM7 CL E G H90624615838Mitochondrial complex III deficiency, nuclear type 8615838C4014440OMIM16628072615831
HP:0000639HP:0000639Nystagmus0LYST CL E G H1130167ORPHA111761968606897
HP:0000639HP:0000639Nystagmus0LYST CL E G H1130167ORPHA115181968606897
HP:0000639HP:0000639Nystagmus0LYST CL E G H1130214500Chédiak-Higashi syndrome214500C0007965OMIM111761968606897
HP:0000639HP:0000639Nystagmus0LYST CL E G H1130214500Chédiak-Higashi syndrome214500C0007965OMIM115181968606897
HP:0000639HP:0000639Nystagmus0LZTFL1 CL E G H54585110ORPHA1696741606568
HP:0000639HP:0000639Nystagmus0LZTFL1 CL E G H54585110ORPHA1866741606568
HP:0000639HP:0000639Nystagmus0MAB21L2 CL E G H10586615877Microphthalmia/coloboma and skeletal dysplasia syndrome615877C4014540OMIM1546758604357
HP:0000639HP:0000639Nystagmus0MAB21L2 CL E G H10586615877Microphthalmia/coloboma and skeletal dysplasia syndrome615877C4014540OMIM1566758604357
HP:0000639HP:0000639Nystagmus0MAG CL E G H4099459056ORPHA11106783159460
HP:0000639HP:0000639Nystagmus0MAG CL E G H4099459056ORPHA11466783159460
HP:0000639HP:0000639Nystagmus0MAG CL E G H4099616680Spastic paraplegia 75, autosomal recessive616680C4225250OMIM11106783159460
HP:0000639HP:0000639Nystagmus0MAG CL E G H4099616680Spastic paraplegia 75, autosomal recessive616680C4225250OMIM11466783159460
HP:0000639HP:0000639Nystagmus0MAK CL E G H4117791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA12436816154235
HP:0000639HP:0000639Nystagmus0MAK CL E G H4117791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA13176816154235
HP:0000639HP:0000639Nystagmus0MAN2B1 CL E G H4125248500Deficiency of alpha-mannosidase248500C0024748OMIM16536826609458
HP:0000639HP:0000639Nystagmus0MAN2B1 CL E G H4125248500Deficiency of alpha-mannosidase248500C0024748OMIM17906826609458
HP:0000639HP:0000639Nystagmus0MAP2K1 CL E G H5604615279Cardiofaciocutaneous syndrome 3615279C3809006OMIM13066840176872
HP:0000639HP:0000639Nystagmus0MAP2K1 CL E G H5604615279Cardiofaciocutaneous syndrome 3615279C3809006OMIM13366840176872
HP:0000639HP:0000639Nystagmus0MAP2K1 CL E G H56041340Chromosome 4, monosomy 4qC0265404ORPHA13066840176872
HP:0000639HP:0000639Nystagmus0MAP2K1 CL E G H56041340Chromosome 4, monosomy 4qC0265404ORPHA13366840176872
HP:0000639HP:0000639Nystagmus0MAP2K2 CL E G H5605615280Cardiofaciocutaneous syndrome 4615280C3809007OMIM14526842601263
HP:0000639HP:0000639Nystagmus0MAP2K2 CL E G H5605615280Cardiofaciocutaneous syndrome 4615280C3809007OMIM15156842601263
HP:0000639HP:0000639Nystagmus0MAP2K2 CL E G H56051340Chromosome 4, monosomy 4qC0265404ORPHA14526842601263
HP:0000639HP:0000639Nystagmus0MAP2K2 CL E G H56051340Chromosome 4, monosomy 4qC0265404ORPHA15156842601263
HP:0000639HP:0000639Nystagmus0MC1R CL E G H415779432ORPHA13766929155555
HP:0000639HP:0000639Nystagmus0MC1R CL E G H415779432ORPHA14286929155555
HP:0000639HP:0000639Nystagmus0MCOLN1 CL E G H57192578Akesson syndromeORPHA141813356605248
HP:0000639HP:0000639Nystagmus0MCOLN1 CL E G H57192578Akesson syndromeORPHA144813356605248
HP:0000639HP:0000639Nystagmus0MECR CL E G H51102617282Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities617282C4310634OMIM16019691608205
HP:0000639HP:0000639Nystagmus0MECR CL E G H51102617282Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities617282C4310634OMIM17319691608205
HP:0000639HP:0000639Nystagmus0MERTK CL E G H10461791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA14637027604705
HP:0000639HP:0000639Nystagmus0MERTK CL E G H10461791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA15747027604705
HP:0000639HP:0000639Nystagmus0MICOS13 CL E G H12598867047ORPHA11933702616658
HP:0000639HP:0000639Nystagmus0MICOS13 CL E G H12598867047ORPHA12033702616658
HP:0000639HP:0000639Nystagmus0MITF CL E G H4286103470Albinism, ocular, with sensorineural deafness103470C1863198OMIM13417105156845
HP:0000639HP:0000639Nystagmus0MITF CL E G H4286103470Albinism, ocular, with sensorineural deafness103470C1863198OMIM13497105156845
HP:0000639HP:0000639Nystagmus0MKKS CL E G H8195110ORPHA12517108604896
HP:0000639HP:0000639Nystagmus0MKKS CL E G H8195110ORPHA13157108604896
HP:0000639HP:0000639Nystagmus0MKS1 CL E G H54903110ORPHA14777121609883
HP:0000639HP:0000639Nystagmus0MKS1 CL E G H54903110ORPHA15537121609883
HP:0000639HP:0000639Nystagmus0MKS1 CL E G H54903220493ORPHA14777121609883
HP:0000639HP:0000639Nystagmus0MKS1 CL E G H54903220493ORPHA15537121609883
HP:0000639HP:0000639Nystagmus0MKS1 CL E G H54903475Acquired hypoprothrombinemiaORPHA14777121609883
HP:0000639HP:0000639Nystagmus0MKS1 CL E G H54903475Acquired hypoprothrombinemiaORPHA15537121609883
HP:0000639HP:0000639Nystagmus0MKS1 CL E G H54903617121Joubert syndrome 28617121C4310705OMIM14777121609883
HP:0000639HP:0000639Nystagmus0MKS1 CL E G H54903617121Joubert syndrome 28617121C4310705OMIM15537121609883
HP:0000639HP:0000639Nystagmus0MMACHC CL E G H25974277400Methylmalonic acidemia with homocystinuria277400C1848561OMIM134824525609831
HP:0000639HP:0000639Nystagmus0MMACHC CL E G H25974277400Methylmalonic acidemia with homocystinuria277400C1848561OMIM138524525609831
HP:0000639HP:0000639Nystagmus0MMADHC CL E G H27249277410Methylmalonic acidemia with homocystinuria cblD277410C1848552OMIM117525221611935
HP:0000639HP:0000639Nystagmus0MMADHC CL E G H27249277410Methylmalonic acidemia with homocystinuria cblD277410C1848552OMIM120125221611935
HP:0000639HP:0000639Nystagmus0MOCS1 CL E G H4337252150Molybdenum cofactor deficiency, complementation group A252150C1854988OMIM12687190603707
HP:0000639HP:0000639Nystagmus0MOCS1 CL E G H4337252150Molybdenum cofactor deficiency, complementation group A252150C1854988OMIM13657190603707
HP:0000639HP:0000639Nystagmus0MOCS2 CL E G H4338252160Molybdenum cofactor deficiency, complementation group B252160C1854989OMIM11587193603708
HP:0000639HP:0000639Nystagmus0MOCS2 CL E G H4338252160Molybdenum cofactor deficiency, complementation group B252160C1854989OMIM12137193603708
HP:0000639HP:0000639Nystagmus0MPDU1 CL E G H9526609180Congenital disorder of glycosylation type 1F609180C1836669OMIM1957207604041
HP:0000639HP:0000639Nystagmus0MPDU1 CL E G H9526609180Congenital disorder of glycosylation type 1F609180C1836669OMIM11007207604041
HP:0000639HP:0000639Nystagmus0MPV17 CL E G H4358256810Navajo neurohepatopathy256810C1850406OMIM11557224137960
HP:0000639HP:0000639Nystagmus0MPV17 CL E G H4358256810Navajo neurohepatopathy256810C1850406OMIM11707224137960