Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Abnormality of the eye (HP:0000478)

Parent Node:
Abnormal eye physiology (HP:0012373)

..Starting node
..Abnormality of eye movement (HP:0000496)

Term ID:

496

Name:

Abnormality of eye movement

Synonym:

Abnormal extraocular movement; Abnormal extraocular movements; Abnormal eye motility; Abnormal eye movement; Abnormal eye movements; Abnormal motility of the globe of the eye; Abnormal movement of the globe of the eye; Abnormal ocular movements; Abnormality of eye movement; Eye movement abnormalities; Eye movement issue; Ocular movement abnormalities; Oculomotor abnormalities

Definition:

An abnormality in voluntary or involuntary eye movements or their control.

Comments:

Reference:

HP:0000496

Genes and Diseases:

Child Nodes:

........

Impaired ocular adduction (HP:0000542)

........

Abnormal conjugate eye movement (HP:0000549)

................... HP:0000486 Strabismus
................... HP:0000605 Supranuclear gaze palsy
................... HP:0000619 Impaired convergence

........

Abnormality of saccadic eye movements (HP:0000570)

................... HP:0000514 Slow saccadic eye movements
................... HP:0000571 Hypometric saccades
................... HP:0000641 Dysmetric saccades
................... HP:0007338 Hypermetric saccades
................... HP:0025402 Square-wave jerks

........

Ophthalmoparesis (HP:0000597)

................... HP:0000602 Ophthalmoplegia
................... HP:0007715 Weak extraocular muscles
................... HP:0008507 Static ophthalmoparesis
................... HP:0012246 Oculomotor nerve palsy
................... HP:0012470 Setting-sun eye phenomenon

........

Abnormality of ocular smooth pursuit (HP:0000617)

................... HP:0001152 Saccadic smooth pursuit
................... HP:0007668 Impaired pursuit initiation and maintenance
................... HP:0007772 Impaired smooth pursuit
................... HP:0008003 Jerky ocular pursuit movements

........

Oculomotor apraxia (HP:0000657)

........

Limited extraocular movements (HP:0007941)

........

Abnormality of ocular abduction (HP:0011347)

................... HP:0000497 Globe retraction and deviation on abduction
................... HP:0000634 Impaired ocular abduction

........

Abnormal involuntary eye movements (HP:0012547)

................... HP:0000639 Nystagmus
................... HP:0007295 Chaotic rapid conjugate ocular movements
................... HP:0007704 Paroxysmal involuntary eye movements
................... HP:0007738 Uncontrolled eye movements
................... HP:0010543 Opsoclonus

........

Marcus Gunn jaw winking synkinesis (HP:0025186)

........

Abnormal visual fixation (HP:0025404)

................... HP:0025405 Visual fixation instability
................... HP:0025549 Eccentric visual fixation

........

Visual gaze preference (HP:0025518)

........

Compensatory head posture (HP:0031705)

................... HP:0001477 Compensatory chin elevation
................... HP:0031706 Compensatory chin depression
................... HP:0031707 Compensatory face turn to the right
................... HP:0031708 Compensatory face turn to the left
................... HP:0031709 Compensatory head tilt to the right shoulder
................... HP:0031710 Compensatory head tilt to the left shoulder

........

Abnormal ocular alignment (HP:0500073)

................... HP:0500074 Dissociated vertical deviation
................... HP:0500075 Dissociated horizontal deviation

Sister Nodes:

Abnormal extraocular muscle physiology (HP:0025590)

Abnormal eyelid physiology (HP:0031879)

Abnormal intraocular pressure (HP:0012632)

Abnormal pupillary function (HP:0007686)

Abnormal visual accommodation (HP:0030800)

Abnormal visual electrophysiology (HP:0030453)

Abnormality of refraction (HP:0000539)

Abnormality of vision (HP:0000504)

Asthenopia (HP:0031590)

Congenital stationary cone dysfunction (HP:0030637)

Glaucoma (HP:0000501)

Hemorrhage of the eye (HP:0011885)

Inflammatory abnormality of the eye (HP:0100533)

Lacrimation abnormality (HP:0000632)

Ocular pain (HP:0200026)

Ptosis (HP:0000508)

Staring gaze (HP:0025401)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	Onset	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000496	HP:0000496	Abnormality of eye movement	0	AARS1 CL E G H	16	20	OMIM:616339	Epileptic encephalopathy, early infantile, 29
HP:0000496	HP:0000496	Abnormality of eye movement	0	AARS1 CL E G H	16	20	ORPHA:442835	Non-specific early-onset epileptic encephalopathy
HP:0000496	HP:0000496	Abnormality of eye movement	0	AARS1 CL E G H	16	20	OMIM:619691	TRICHOTHIODYSTROPHY 8, NONPHOTOSENSITIVE; TTD8
HP:0000496	HP:0000496	Abnormality of eye movement	0	AARS2 CL E G H	57505	21022	OMIM:615889	Leukoencephalopathy, progressive, with ovarian failure			143
HP:0000496	HP:0000496	Abnormality of eye movement	0	AASS CL E G H	10157	17366	ORPHA:2203	Hyperlysinemia			15
HP:0000496	HP:0000496	Abnormality of eye movement	0	ABCA4 CL E G H	24	34	ORPHA:791	Retinitis pigmentosa			826
HP:0000496	HP:0000496	Abnormality of eye movement	0	ABCA4 CL E G H	24	34	ORPHA:827	Stargardt disease			826
HP:0000496	HP:0000496	Abnormality of eye movement	0	ABCA7 CL E G H	10347	37	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease			3
HP:0000496	HP:0000496	Abnormality of eye movement	0	ABCB7 CL E G H	22	48	ORPHA:2802	X-linked sideroblastic anemia and spinocerebellar ataxia			35
HP:0000496	HP:0000496	Abnormality of eye movement	0	ABCC8 CL E G H	6833	59	OMIM:240800	Hypoglycemia of infancy, leucine-sensitive			245
HP:0000496	HP:0000496	Abnormality of eye movement	0	ABCC9 CL E G H	10060	60	OMIM:619719	INTELLECTUAL DISABILITY AND MYOPATHY SYNDROME; IDMYS			254
HP:0000496	HP:0000496	Abnormality of eye movement	0	ABCD1 CL E G H	215	61	ORPHA:139396	X-linked cerebral adrenoleukodystrophy			135
HP:0000496	HP:0000496	Abnormality of eye movement	0	ABHD12 CL E G H	26090	15868	OMIM:612674	Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract			50
HP:0000496	HP:0000496	Abnormality of eye movement	0	ABHD5 CL E G H	51099	21396	OMIM:275630	Chanarin-Dorfman syndrome			90
HP:0000496	HP:0000496	Abnormality of eye movement	0	ABHD5 CL E G H	51099	21396	ORPHA:98907	Neutral lipid storage disease with ichthyosis			90
HP:0000496	HP:0000496	Abnormality of eye movement	0	ACADS CL E G H	35	90	OMIM:201470	Acyl-Coa dehydrogenase, short-chain, deficiency of			90
HP:0000496	HP:0000496	Abnormality of eye movement	0	ACADSB CL E G H	36	91	OMIM:610006	2-Methylbutyryl-Coa dehydrogenase deficiency			111
HP:0000496	HP:0000496	Abnormality of eye movement	0	ACBD5 CL E G H	91452	23338	OMIM:618863	RETINAL DYSTROPHY WITH LEUKODYSTROPHY; RDLKD			1
HP:0000496	HP:0000496	Abnormality of eye movement	0	ACKR3 CL E G H	57007	23692	OMIM:619215	OCULOMOTOR-ABDUCENS SYNKINESIS; OCABSN
HP:0000496	HP:0000496	Abnormality of eye movement	0	ACO2 CL E G H	50	118	OMIM:614559	INFANTILE CEREBELLAR-RETINAL DEGENERATION; ICRD			60
HP:0000496	HP:0000496	Abnormality of eye movement	0	ACOX1 CL E G H	51	119	ORPHA:2971	Peroxisomal acyl-CoA oxidase deficiency			120
HP:0000496	HP:0000496	Abnormality of eye movement	0	ACOX1 CL E G H	51	119	OMIM:264470	Peroxisomal acyl-coa oxidase deficiency			120
HP:0000496	HP:0000496	Abnormality of eye movement	0	ACOX2 CL E G H	8309	120	OMIM:617308	Bile acid synthesis defect, congenital, 6			2
HP:0000496	HP:0000496	Abnormality of eye movement	0	ACSL4 CL E G H	2182	3571	ORPHA:86818	Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome			19
HP:0000496	HP:0000496	Abnormality of eye movement	0	ACTA1 CL E G H	58	129	ORPHA:2020	Congenital fiber-type disproportion myopathy			96
HP:0000496	HP:0000496	Abnormality of eye movement	0	ACTA1 CL E G H	58	129	ORPHA:171433	Intermediate nemaline myopathy			96
HP:0000496	HP:0000496	Abnormality of eye movement	0	ACTA1 CL E G H	58	129	OMIM:255310	Myopathy, congenital, with fiber-type disproportion			96
HP:0000496	HP:0000496	Abnormality of eye movement	0	ACTA1 CL E G H	58	129	ORPHA:171430	Severe congenital nemaline myopathy			96
HP:0000496	HP:0000496	Abnormality of eye movement	0	ACTL6B CL E G H	51412	160	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			2
HP:0000496	HP:0000496	Abnormality of eye movement	0	ACTN2 CL E G H	88	164	OMIM:618654	MYOPATHY, CONGENITAL, WITH STRUCTURED CORES AND Z-LINE ABNORMALITIES; MYOCOZ			307
HP:0000496	HP:0000496	Abnormality of eye movement	0	ADA2 CL E G H	51816	1839	ORPHA:124	Blackfan-Diamond anemia			22
HP:0000496	HP:0000496	Abnormality of eye movement	0	ADA2 CL E G H	51816	1839	OMIM:615688	Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome			22
HP:0000496	HP:0000496	Abnormality of eye movement	0	ADAMTSL4 CL E G H	54507	19706	ORPHA:1885	Isolated ectopia lentis			84
HP:0000496	HP:0000496	Abnormality of eye movement	0	ADAR CL E G H	103	225	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional		116
HP:0000496	HP:0000496	Abnormality of eye movement	0	ADAR CL E G H	103	225	OMIM:615010	Aicardi-Goutieres syndrome 6			116
HP:0000496	HP:0000496	Abnormality of eye movement	0	ADAR CL E G H	103	225	ORPHA:225154	Familial infantile bilateral striatal necrosis			116
HP:0000496	HP:0000496	Abnormality of eye movement	0	ADARB1 CL E G H	104	226	OMIM:618862	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, MICROCEPHALY, AND SEIZURES; NEDHYMS			1
HP:0000496	HP:0000496	Abnormality of eye movement	0	ADAT3 CL E G H	113179	25151	ORPHA:363528	Intellectual disability-strabismus syndrome			9
HP:0000496	HP:0000496	Abnormality of eye movement	0	ADAT3 CL E G H	113179	25151	OMIM:615286	Mental retardation, autosomal recessive 36			9
HP:0000496	HP:0000496	Abnormality of eye movement	0	ADD3 CL E G H	120	245	OMIM:617008	Cerebral palsy, spastic quadriplegic, 3			3
HP:0000496	HP:0000496	Abnormality of eye movement	0	ADGRG1 CL E G H	9289	4512	ORPHA:101070	Bilateral frontoparietal polymicrogyria			88
HP:0000496	HP:0000496	Abnormality of eye movement	0	ADGRG1 CL E G H	9289	4512	ORPHA:98889	Bilateral perisylvian polymicrogyria			88
HP:0000496	HP:0000496	Abnormality of eye movement	0	ADGRG1 CL E G H	9289	4512	OMIM:606854	Polymicrogyria, bilateral frontoparietal			88
HP:0000496	HP:0000496	Abnormality of eye movement	0	ADGRV1 CL E G H	84059	17416	ORPHA:231178	Usher syndrome type 2			530
HP:0000496	HP:0000496	Abnormality of eye movement	0	ADNP CL E G H	23394	15766	ORPHA:404448	ADNP syndrome			47
HP:0000496	HP:0000496	Abnormality of eye movement	0	ADNP CL E G H	23394	15766	OMIM:615873	Helsmoortel-van der Aa syndrome			47
HP:0000496	HP:0000496	Abnormality of eye movement	0	ADORA2A CL E G H	135	263	ORPHA:363549	Acute encephalopathy with biphasic seizures and late reduced diffusion			1
HP:0000496	HP:0000496	Abnormality of eye movement	0	ADPRS CL E G H	54936	21304	OMIM:618170	Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures
HP:0000496	HP:0000496	Abnormality of eye movement	0	ADSL CL E G H	158	291	OMIM:103050	Adenylosuccinase deficiency			118
HP:0000496	HP:0000496	Abnormality of eye movement	0	AEBP1 CL E G H	165	303	ORPHA:536532	Classical-like Ehlers-Danlos syndrome type 2
HP:0000496	HP:0000496	Abnormality of eye movement	0	AFF3 CL E G H	3899	6473	OMIM:619297	KINSSHIP SYNDROME; KINS			1
HP:0000496	HP:0000496	Abnormality of eye movement	0	AFF4 CL E G H	27125	17869	ORPHA:444077	Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome			6
HP:0000496	HP:0000496	Abnormality of eye movement	0	AFG3L2 CL E G H	10939	315	ORPHA:313772	Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome			86
HP:0000496	HP:0000496	Abnormality of eye movement	0	AFG3L2 CL E G H	10939	315	OMIM:614487	Spastic ataxia 5, autosomal recessive			86
HP:0000496	HP:0000496	Abnormality of eye movement	0	AFG3L2 CL E G H	10939	315	OMIM:610246	Spinocerebellar ataxia 28			86
HP:0000496	HP:0000496	Abnormality of eye movement	0	AFG3L2 CL E G H	10939	315	ORPHA:101109	Spinocerebellar ataxia type 28			86
HP:0000496	HP:0000496	Abnormality of eye movement	0	AGBL5 CL E G H	60509	26147	ORPHA:791	Retinitis pigmentosa			2
HP:0000496	HP:0000496	Abnormality of eye movement	0	AGK CL E G H	55750	21869	ORPHA:1369	Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome			82
HP:0000496	HP:0000496	Abnormality of eye movement	0	AGK CL E G H	55750	21869	OMIM:212350	Sengers syndrome			82
HP:0000496	HP:0000496	Abnormality of eye movement	0	AGO2 CL E G H	27161	3263	OMIM:619149	LESSEL-KREIENKAMP SYNDROME; LESKRES
HP:0000496	HP:0000496	Abnormality of eye movement	0	AGRN CL E G H	375790	329	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent		127
HP:0000496	HP:0000496	Abnormality of eye movement	0	AGRN CL E G H	375790	329	ORPHA:98914	Presynaptic congenital myasthenic syndromes			127
HP:0000496	HP:0000496	Abnormality of eye movement	0	AGTPBP1 CL E G H	23287	17258	OMIM:618276	Neurodegeneration, childhood-onset, with cerebellar atrophy	.		1
HP:0000496	HP:0000496	Abnormality of eye movement	0	AGTPBP1 CL E G H	23287	17258	ORPHA:2254	Pontocerebellar hypoplasia type 1			1
HP:0000496	HP:0000496	Abnormality of eye movement	0	AHCY CL E G H	191	343	ORPHA:88618	S-adenosylhomocysteine hydrolase deficiency			31
HP:0000496	HP:0000496	Abnormality of eye movement	0	AHDC1 CL E G H	27245	25230	ORPHA:412069	AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome			36
HP:0000496	HP:0000496	Abnormality of eye movement	0	AHDC1 CL E G H	27245	25230	OMIM:615829	Xia-Gibbs syndrome			36
HP:0000496	HP:0000496	Abnormality of eye movement	0	AHI1 CL E G H	54806	21575	ORPHA:475	Joubert syndrome			175
HP:0000496	HP:0000496	Abnormality of eye movement	0	AHI1 CL E G H	54806	21575	OMIM:608629	Joubert syndrome 3			175
HP:0000496	HP:0000496	Abnormality of eye movement	0	AHI1 CL E G H	54806	21575	ORPHA:220493	Joubert syndrome with ocular defect			175
HP:0000496	HP:0000496	Abnormality of eye movement	0	AHI1 CL E G H	54806	21575	ORPHA:791	Retinitis pigmentosa			175
HP:0000496	HP:0000496	Abnormality of eye movement	0	AHR CL E G H	196	348	ORPHA:791	Retinitis pigmentosa			2
HP:0000496	HP:0000496	Abnormality of eye movement	0	AIFM1 CL E G H	9131	8768	ORPHA:83629	Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome			60
HP:0000496	HP:0000496	Abnormality of eye movement	0	AIFM1 CL E G H	9131	8768	OMIM:300232	Spondyloepimetaphyseal dysplasia, X-linked, with mental deterioration			60
HP:0000496	HP:0000496	Abnormality of eye movement	0	AIMP1 CL E G H	9255	10648	OMIM:260600	Leukodystrophy, hypomyelinating, 3			4
HP:0000496	HP:0000496	Abnormality of eye movement	0	AIP CL E G H	9049	358	ORPHA:2965	Prolactinoma			95
HP:0000496	HP:0000496	Abnormality of eye movement	0	AIPL1 CL E G H	23746	359	ORPHA:65	Leber congenital amaurosis			114
HP:0000496	HP:0000496	Abnormality of eye movement	0	AIPL1 CL E G H	23746	359	OMIM:604393	Leber congenital amaurosis 4			114
HP:0000496	HP:0000496	Abnormality of eye movement	0	AK9 CL E G H	221264	33814	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent		1
HP:0000496	HP:0000496	Abnormality of eye movement	0	AKT1 CL E G H	207	391	ORPHA:2495	Meningioma			54
HP:0000496	HP:0000496	Abnormality of eye movement	0	AKT1 CL E G H	207	391	ORPHA:744	Proteus syndrome			54
HP:0000496	HP:0000496	Abnormality of eye movement	0	AKT3 CL E G H	10000	393	ORPHA:99802	Hemimegalencephaly			19
HP:0000496	HP:0000496	Abnormality of eye movement	0	ALDH18A1 CL E G H	5832	9722	ORPHA:90348	Autosomal dominant cutis laxa			89
HP:0000496	HP:0000496	Abnormality of eye movement	0	ALDH18A1 CL E G H	5832	9722	ORPHA:447753	Autosomal dominant spastic paraplegia type 9A			89
HP:0000496	HP:0000496	Abnormality of eye movement	0	ALDH18A1 CL E G H	5832	9722	OMIM:616603	Cutis laxa, autosomal dominant 3			89
HP:0000496	HP:0000496	Abnormality of eye movement	0	ALDH18A1 CL E G H	5832	9722	OMIM:219150	Cutis laxa, autosomal recessive, type IIIA			89
HP:0000496	HP:0000496	Abnormality of eye movement	0	ALDH18A1 CL E G H	5832	9722	OMIM:601162	Spastic paraplegia 9A, autosomal dominant			89
HP:0000496	HP:0000496	Abnormality of eye movement	0	ALDH1A3 CL E G H	220	409	ORPHA:35612	Nanophthalmos			10
HP:0000496	HP:0000496	Abnormality of eye movement	0	ALDH3A2 CL E G H	224	403	OMIM:270200	Sjogren-Larsson syndrome			87
HP:0000496	HP:0000496	Abnormality of eye movement	0	ALDH4A1 CL E G H	8659	406	ORPHA:79101	Hyperprolinemia type 2	HP:0040283 - Occasional		74
HP:0000496	HP:0000496	Abnormality of eye movement	0	ALDH5A1 CL E G H	7915	408	OMIM:271980	Succinic semialdehyde dehydrogenase deficiency	.		108
HP:0000496	HP:0000496	Abnormality of eye movement	0	ALDH7A1 CL E G H	501	877	OMIM:266100	Epilepsy, pyridoxine-dependent			227
HP:0000496	HP:0000496	Abnormality of eye movement	0	ALDH7A1 CL E G H	501	877	ORPHA:3006	Pyridoxine-dependent epilepsy	HP:0040283 - Occasional		227
HP:0000496	HP:0000496	Abnormality of eye movement	0	ALG1 CL E G H	56052	18294	ORPHA:79327	ALG1-CDG			58
HP:0000496	HP:0000496	Abnormality of eye movement	0	ALG11 CL E G H	440138	32456	ORPHA:280071	ALG11-CDG			41
HP:0000496	HP:0000496	Abnormality of eye movement	0	ALG11 CL E G H	440138	32456	OMIM:613661	Congenital disorder of glycosylation, type Ip			41
HP:0000496	HP:0000496	Abnormality of eye movement	0	ALG12 CL E G H	79087	19358	ORPHA:79324	ALG12-CDG			68
HP:0000496	HP:0000496	Abnormality of eye movement	0	ALG13 CL E G H	79868	30881	ORPHA:324422	ALG13-CDG			96
HP:0000496	HP:0000496	Abnormality of eye movement	0	ALG13 CL E G H	79868	30881	OMIM:300884	Epileptic encephalopathy, early infantile, 36			96
HP:0000496	HP:0000496	Abnormality of eye movement	0	ALG2 CL E G H	85365	23159	ORPHA:79326	ALG2-CDG			46
HP:0000496	HP:0000496	Abnormality of eye movement	0	ALG2 CL E G H	85365	23159	OMIM:607906	Congenital disorder of glycosylation, type Ii			46
HP:0000496	HP:0000496	Abnormality of eye movement	0	ALG3 CL E G H	10195	23056	ORPHA:79321	ALG3-CDG			37
HP:0000496	HP:0000496	Abnormality of eye movement	0	ALG3 CL E G H	10195	23056	OMIM:601110	Congenital disorder of glycosylation, type Id			37
HP:0000496	HP:0000496	Abnormality of eye movement	0	ALG6 CL E G H	29929	23157	ORPHA:79320	ALG6-CDG			66
HP:0000496	HP:0000496	Abnormality of eye movement	0	ALG6 CL E G H	29929	23157	OMIM:603147	Congenital disorder of glycosylation, type Ic			66
HP:0000496	HP:0000496	Abnormality of eye movement	0	ALG8 CL E G H	79053	23161	ORPHA:79325	ALG8-CDG			46
HP:0000496	HP:0000496	Abnormality of eye movement	0	ALG9 CL E G H	79796	15672	ORPHA:79328	ALG9-CDG			93
HP:0000496	HP:0000496	Abnormality of eye movement	0	ALG9 CL E G H	79796	15672	OMIM:608776	Congenital disorder of glycosylation, type Il			93
HP:0000496	HP:0000496	Abnormality of eye movement	0	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome			404
HP:0000496	HP:0000496	Abnormality of eye movement	0	ALMS1 CL E G H	7840	428	OMIM:203800	Alstrom syndrome			404
HP:0000496	HP:0000496	Abnormality of eye movement	0	ALS2 CL E G H	57679	443	OMIM:205100	Amyotrophic lateral sclerosis 2, juvenile			114
HP:0000496	HP:0000496	Abnormality of eye movement	0	ALS2 CL E G H	57679	443	ORPHA:293168	Infantile-onset ascending hereditary spastic paralysis	HP:0040282 - Frequent		114
HP:0000496	HP:0000496	Abnormality of eye movement	0	ALS2 CL E G H	57679	443	ORPHA:300605	Juvenile amyotrophic lateral sclerosis			114
HP:0000496	HP:0000496	Abnormality of eye movement	0	ALS2 CL E G H	57679	443	OMIM:606353	Primary lateral sclerosis, juvenile			114
HP:0000496	HP:0000496	Abnormality of eye movement	0	ALS2 CL E G H	57679	443	OMIM:607225	Spastic paralysis, infantile-onset ascending			114
HP:0000496	HP:0000496	Abnormality of eye movement	0	ALX3 CL E G H	257	449	ORPHA:391474	Frontorhiny			9
HP:0000496	HP:0000496	Abnormality of eye movement	0	ALX4 CL E G H	60529	450	OMIM:613451	Frontonasal dysplasia 2			132
HP:0000496	HP:0000496	Abnormality of eye movement	0	ALX4 CL E G H	60529	450	ORPHA:228390	Frontonasal dysplasia-alopecia-genital anomalies syndrome			132
HP:0000496	HP:0000496	Abnormality of eye movement	0	ALX4 CL E G H	60529	450	ORPHA:52022	Potocki-Shaffer syndrome			132
HP:0000496	HP:0000496	Abnormality of eye movement	0	AMMECR1 CL E G H	9949	467	ORPHA:86818	Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome			2
HP:0000496	HP:0000496	Abnormality of eye movement	0	AMMECR1 CL E G H	9949	467	OMIM:300990	Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis			2
HP:0000496	HP:0000496	Abnormality of eye movement	0	ANAPC7 CL E G H	51434	17380	OMIM:619699	FERGUSON-BONNI NEURODEVELOPMENTAL SYNDROME; FERBON
HP:0000496	HP:0000496	Abnormality of eye movement	0	ANGPTL6 CL E G H	83854	23140	ORPHA:231160	Familial cerebral saccular aneurysm
HP:0000496	HP:0000496	Abnormality of eye movement	0	ANK1 CL E G H	286	492	ORPHA:251066	8p11.2 deletion syndrome			150
HP:0000496	HP:0000496	Abnormality of eye movement	0	ANKRD11 CL E G H	29123	21316	ORPHA:261250	16q24.3 microdeletion syndrome			102
HP:0000496	HP:0000496	Abnormality of eye movement	0	ANKRD11 CL E G H	29123	21316	ORPHA:2332	KBG syndrome			102
HP:0000496	HP:0000496	Abnormality of eye movement	0	ANKRD17 CL E G H	26057	23575	OMIM:619504	CHOPRA-AMIEL-GORDON SYNDROME; CAGS			2
HP:0000496	HP:0000496	Abnormality of eye movement	0	ANO10 CL E G H	55129	25519	ORPHA:284289	Adult-onset autosomal recessive cerebellar ataxia			64
HP:0000496	HP:0000496	Abnormality of eye movement	0	ANO10 CL E G H	55129	25519	OMIM:613728	Spinocerebellar ataxia, autosomal recessive 10			64
HP:0000496	HP:0000496	Abnormality of eye movement	0	ANOS1 CL E G H	3730	6211	ORPHA:478	Kallmann syndrome			65
HP:0000496	HP:0000496	Abnormality of eye movement	0	ANTXR1 CL E G H	84168	21014	ORPHA:2067	GAPO syndrome			8
HP:0000496	HP:0000496	Abnormality of eye movement	0	ANTXR1 CL E G H	84168	21014	OMIM:230740	Gapo syndrome			8
HP:0000496	HP:0000496	Abnormality of eye movement	0	AP1G1 CL E G H	164	555	OMIM:619467	USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL DOMINANT; USRISD
HP:0000496	HP:0000496	Abnormality of eye movement	0	AP1S2 CL E G H	8905	560	ORPHA:1568	X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome			13
HP:0000496	HP:0000496	Abnormality of eye movement	0	AP3B1 CL E G H	8546	566	OMIM:608233	Hermansky-Pudlak syndrome 2			83
HP:0000496	HP:0000496	Abnormality of eye movement	0	AP3B2 CL E G H	8120	567	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			7
HP:0000496	HP:0000496	Abnormality of eye movement	0	AP3D1 CL E G H	8943	568	OMIM:617050	HERMANSKY-PUDLAK SYNDROME 10; HPS10			1
HP:0000496	HP:0000496	Abnormality of eye movement	0	AP3D1 CL E G H	8943	568	ORPHA:1000	Ocular albinism with late-onset sensorineural deafness			1
HP:0000496	HP:0000496	Abnormality of eye movement	0	AP3D1 CL E G H	8943	568	ORPHA:54	X-linked recessive ocular albinism			1
HP:0000496	HP:0000496	Abnormality of eye movement	0	AP4B1 CL E G H	10717	572	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia			49
HP:0000496	HP:0000496	Abnormality of eye movement	0	AP4E1 CL E G H	23431	573	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia			48
HP:0000496	HP:0000496	Abnormality of eye movement	0	AP4E1 CL E G H	23431	573	OMIM:613744	Spastic paraplegia 51, autosomal recessive			48
HP:0000496	HP:0000496	Abnormality of eye movement	0	AP4M1 CL E G H	9179	574	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia			41
HP:0000496	HP:0000496	Abnormality of eye movement	0	AP4M1 CL E G H	9179	574	OMIM:612936	Spastic paraplegia 50, autosomal recessive			41
HP:0000496	HP:0000496	Abnormality of eye movement	0	AP4S1 CL E G H	11154	575	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia			18
HP:0000496	HP:0000496	Abnormality of eye movement	0	APC CL E G H	324	583	ORPHA:3258	Cenani-Lenz syndrome			3179
HP:0000496	HP:0000496	Abnormality of eye movement	0	APC CL E G H	324	583	ORPHA:99818	Turcot syndrome with polyposis			3179
HP:0000496	HP:0000496	Abnormality of eye movement	0	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome			1
HP:0000496	HP:0000496	Abnormality of eye movement	0	APP CL E G H	351	620	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease			74
HP:0000496	HP:0000496	Abnormality of eye movement	0	APTX CL E G H	54840	15984	OMIM:208920	Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia			61
HP:0000496	HP:0000496	Abnormality of eye movement	0	ARCN1 CL E G H	372	649	OMIM:617164	Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay			3
HP:0000496	HP:0000496	Abnormality of eye movement	0	ARHGAP31 CL E G H	57514	29216	ORPHA:974	Adams-Oliver syndrome			147
HP:0000496	HP:0000496	Abnormality of eye movement	0	ARHGAP31 CL E G H	57514	29216	OMIM:100300	Adams-Oliver syndrome 1			147
HP:0000496	HP:0000496	Abnormality of eye movement	0	ARHGEF18 CL E G H	23370	17090	ORPHA:791	Retinitis pigmentosa			6
HP:0000496	HP:0000496	Abnormality of eye movement	0	ARHGEF2 CL E G H	9181	682	OMIM:617523	Neurodevelopmental disorder with midbrain and hindbrain malformations			1
HP:0000496	HP:0000496	Abnormality of eye movement	0	ARID1A CL E G H	8289	11110	ORPHA:1465	Coffin-Siris syndrome			88
HP:0000496	HP:0000496	Abnormality of eye movement	0	ARID1A CL E G H	8289	11110	OMIM:614607	Coffin-Siris syndrome 2			88
HP:0000496	HP:0000496	Abnormality of eye movement	0	ARID1B CL E G H	57492	18040	ORPHA:1465	Coffin-Siris syndrome			219
HP:0000496	HP:0000496	Abnormality of eye movement	0	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1			219
HP:0000496	HP:0000496	Abnormality of eye movement	0	ARID2 CL E G H	196528	18037	ORPHA:1465	Coffin-Siris syndrome			25
HP:0000496	HP:0000496	Abnormality of eye movement	0	ARL13B CL E G H	200894	25419	ORPHA:475	Joubert syndrome			62
HP:0000496	HP:0000496	Abnormality of eye movement	0	ARL13B CL E G H	200894	25419	OMIM:612291	JOUBERT SYNDROME 8; JBTS8			62
HP:0000496	HP:0000496	Abnormality of eye movement	0	ARL2BP CL E G H	23568	17146	ORPHA:791	Retinitis pigmentosa			3
HP:0000496	HP:0000496	Abnormality of eye movement	0	ARL3 CL E G H	403	694	ORPHA:475	Joubert syndrome			1
HP:0000496	HP:0000496	Abnormality of eye movement	0	ARL3 CL E G H	403	694	OMIM:618161	JOUBERT SYNDROME 35; JBTS35			1
HP:0000496	HP:0000496	Abnormality of eye movement	0	ARL3 CL E G H	403	694	ORPHA:791	Retinitis pigmentosa			1
HP:0000496	HP:0000496	Abnormality of eye movement	0	ARL6 CL E G H	84100	13210	ORPHA:110	Bardet-Biedl syndrome			29
HP:0000496	HP:0000496	Abnormality of eye movement	0	ARL6 CL E G H	84100	13210	OMIM:209900	Bardet-Biedl syndrome 1			29
HP:0000496	HP:0000496	Abnormality of eye movement	0	ARL6 CL E G H	84100	13210	ORPHA:791	Retinitis pigmentosa			29
HP:0000496	HP:0000496	Abnormality of eye movement	0	ARMC9 CL E G H	80210	20730	ORPHA:475	Joubert syndrome
HP:0000496	HP:0000496	Abnormality of eye movement	0	ARMC9 CL E G H	80210	20730	OMIM:617622	JOUBERT SYNDROME 30; JBTS30
HP:0000496	HP:0000496	Abnormality of eye movement	0	ARNT2 CL E G H	9915	16876	ORPHA:3157	Septo-optic dysplasia spectrum
HP:0000496	HP:0000496	Abnormality of eye movement	0	ARPC4 CL E G H	10093	707	OMIM:620141
HP:0000496	HP:0000496	Abnormality of eye movement	0	ARV1 CL E G H	64801	29561	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			3
HP:0000496	HP:0000496	Abnormality of eye movement	0	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome			1
HP:0000496	HP:0000496	Abnormality of eye movement	0	ARX CL E G H	170302	18060	ORPHA:2508	Corpus callosum agenesis-abnormal genitalia syndrome			166
HP:0000496	HP:0000496	Abnormality of eye movement	0	ARX CL E G H	170302	18060	OMIM:300004	Corpus callosum, agenesis of, with abnormal genitalia			166
HP:0000496	HP:0000496	Abnormality of eye movement	0	ARX CL E G H	170302	18060	ORPHA:1934	Early infantile epileptic encephalopathy			166
HP:0000496	HP:0000496	Abnormality of eye movement	0	ARX CL E G H	170302	18060	OMIM:300215	Lissencephaly, X-linked, 2			166
HP:0000496	HP:0000496	Abnormality of eye movement	0	ASAH1 CL E G H	427	735	ORPHA:333	Farber disease			78
HP:0000496	HP:0000496	Abnormality of eye movement	0	ASCL1 CL E G H	429	738	ORPHA:99803	Haddad syndrome			15
HP:0000496	HP:0000496	Abnormality of eye movement	0	ASH1L CL E G H	55870	19088	OMIM:617796	Mental retardation, autosomal dominant 52			1
HP:0000496	HP:0000496	Abnormality of eye movement	0	ASPA CL E G H	443	756	OMIM:271900	Canavan disease			48
HP:0000496	HP:0000496	Abnormality of eye movement	0	ASPA CL E G H	443	756	ORPHA:314911	Severe Canavan disease			48
HP:0000496	HP:0000496	Abnormality of eye movement	0	ASXL1 CL E G H	171023	18318	OMIM:605039	Bohring-Opitz syndrome			145
HP:0000496	HP:0000496	Abnormality of eye movement	0	ASXL3 CL E G H	80816	29357	ORPHA:352577	Bainbridge-Ropers syndrome			49
HP:0000496	HP:0000496	Abnormality of eye movement	0	ASXL3 CL E G H	80816	29357	OMIM:615485	BAINBRIDGE-ROPERS SYNDROME; BRPS			49
HP:0000496	HP:0000496	Abnormality of eye movement	0	ATAD3A CL E G H	55210	25567	OMIM:617183	Harel-Yoon syndrome			5
HP:0000496	HP:0000496	Abnormality of eye movement	0	ATAD3A CL E G H	55210	25567	ORPHA:496790	Ocular anomalies-axonal neuropathy-developmental delay syndrome			5
HP:0000496	HP:0000496	Abnormality of eye movement	0	ATCAY CL E G H	85300	779	OMIM:601238	Cerebellar ataxia, Cayman type			72
HP:0000496	HP:0000496	Abnormality of eye movement	0	ATCAY CL E G H	85300	779	ORPHA:94122	Cerebellar ataxia, Cayman type			72
HP:0000496	HP:0000496	Abnormality of eye movement	0	ATF6 CL E G H	22926	791	ORPHA:49382	Achromatopsia			10
HP:0000496	HP:0000496	Abnormality of eye movement	0	ATF6 CL E G H	22926	791	OMIM:616517	ACHROMATOPSIA 7; ACHM7			10
HP:0000496	HP:0000496	Abnormality of eye movement	0	ATG5 CL E G H	9474	589	OMIM:617584	Spinocerebellar ataxia, autosomal recessive 25			1
HP:0000496	HP:0000496	Abnormality of eye movement	0	ATG7 CL E G H	10533	16935	OMIM:619422	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 31; SCAR31			1
HP:0000496	HP:0000496	Abnormality of eye movement	0	ATM CL E G H	472	795	ORPHA:100	Ataxia-telangiectasia	HP:0040281 - Very frequent		3267
HP:0000496	HP:0000496	Abnormality of eye movement	0	ATM CL E G H	472	795	OMIM:208900	ATAXIA-TELANGIECTASIA			3267
HP:0000496	HP:0000496	Abnormality of eye movement	0	ATN1 CL E G H	1822	3033	ORPHA:101	Dentatorubral pallidoluysian atrophy			16
HP:0000496	HP:0000496	Abnormality of eye movement	0	ATOH7 CL E G H	220202	13907	ORPHA:91495	Persistent hyperplastic primary vitreous			4
HP:0000496	HP:0000496	Abnormality of eye movement	0	ATOH7 CL E G H	220202	13907	OMIM:221900	Persistent hyperplastic primary vitreous, autosomal recessive			4
HP:0000496	HP:0000496	Abnormality of eye movement	0	ATP13A2 CL E G H	23400	30213	ORPHA:314632	ATP13A2-related juvenile neuronal ceroid lipofuscinosis			100
HP:0000496	HP:0000496	Abnormality of eye movement	0	ATP13A2 CL E G H	23400	30213	ORPHA:513436	Autosomal recessive spastic paraplegia type 78			100
HP:0000496	HP:0000496	Abnormality of eye movement	0	ATP13A2 CL E G H	23400	30213	ORPHA:306674	Kufor-Rakeb syndrome			100
HP:0000496	HP:0000496	Abnormality of eye movement	0	ATP13A2 CL E G H	23400	30213	OMIM:606693	Kufor-Rakeb syndrome			100
HP:0000496	HP:0000496	Abnormality of eye movement	0	ATP13A2 CL E G H	23400	30213	OMIM:617225	SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE; SPG78			100
HP:0000496	HP:0000496	Abnormality of eye movement	0	ATP1A2 CL E G H	477	800	ORPHA:2131	Alternating hemiplegia of childhood			239
HP:0000496	HP:0000496	Abnormality of eye movement	0	ATP1A2 CL E G H	477	800	OMIM:104290	Alternating hemiplegia of childhood 1			239
HP:0000496	HP:0000496	Abnormality of eye movement	0	ATP1A2 CL E G H	477	800	ORPHA:569	Familial or sporadic hemiplegic migraine			239
HP:0000496	HP:0000496	Abnormality of eye movement	0	ATP1A2 CL E G H	477	800	OMIM:602481	Migraine, familial hemiplegic, 2			239
HP:0000496	HP:0000496	Abnormality of eye movement	0	ATP1A2 CL E G H	477	800	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			239
HP:0000496	HP:0000496	Abnormality of eye movement	0	ATP1A3 CL E G H	478	801	ORPHA:2131	Alternating hemiplegia of childhood			150
HP:0000496	HP:0000496	Abnormality of eye movement	0	ATP1A3 CL E G H	478	801	OMIM:614820	Alternating hemiplegia of childhood 2	.		150
HP:0000496	HP:0000496	Abnormality of eye movement	0	ATP1A3 CL E G H	478	801	OMIM:601338	Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss			150
HP:0000496	HP:0000496	Abnormality of eye movement	0	ATP1A3 CL E G H	478	801	ORPHA:1171	Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome	HP:0040283 - Occasional		150
HP:0000496	HP:0000496	Abnormality of eye movement	0	ATP1A3 CL E G H	478	801	OMIM:619606	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 99; DEE99			150
HP:0000496	HP:0000496	Abnormality of eye movement	0	ATP1A3 CL E G H	478	801	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			150
HP:0000496	HP:0000496	Abnormality of eye movement	0	ATP2B3 CL E G H	492	816	OMIM:302500	Spinocerebellar ataxia, X-linked 1			19
HP:0000496	HP:0000496	Abnormality of eye movement	0	ATP2B3 CL E G H	492	816	ORPHA:314978	X-linked non progressive cerebellar ataxia			19
HP:0000496	HP:0000496	Abnormality of eye movement	0	ATP5F1A CL E G H	498	823	OMIM:615228	Mitochondrial complex V (atp synthase) deficiency, nuclear type 4
HP:0000496	HP:0000496	Abnormality of eye movement	0	ATP5MK CL E G H	84833	30889	OMIM:618683	MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 6; MC5DN6
HP:0000496	HP:0000496	Abnormality of eye movement	0	ATP6 CL E G H	4508	7414	ORPHA:225154	Familial infantile bilateral striatal necrosis
HP:0000496	HP:0000496	Abnormality of eye movement	0	ATP6 CL E G H	4508	7414	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0000496	HP:0000496	Abnormality of eye movement	0	ATP6 CL E G H	4508	7414	ORPHA:644	NARP syndrome
HP:0000496	HP:0000496	Abnormality of eye movement	0	ATP6 CL E G H	4508	7414	OMIM:551500	Neuropathy, ataxia, and retinitis pigmentosa
HP:0000496	HP:0000496	Abnormality of eye movement	0	ATP6V0A2 CL E G H	23545	18481	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type			140
HP:0000496	HP:0000496	Abnormality of eye movement	0	ATP6V0A2 CL E G H	23545	18481	OMIM:219200	Cutis laxa, autosomal recessive, type IIA			140
HP:0000496	HP:0000496	Abnormality of eye movement	0	ATP6V1A CL E G H	523	851	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type			3
HP:0000496	HP:0000496	Abnormality of eye movement	0	ATP6V1A CL E G H	523	851	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			3
HP:0000496	HP:0000496	Abnormality of eye movement	0	ATP6V1B2 CL E G H	526	854	ORPHA:79500	DOORS syndrome			5
HP:0000496	HP:0000496	Abnormality of eye movement	0	ATP6V1E1 CL E G H	529	857	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type			2
HP:0000496	HP:0000496	Abnormality of eye movement	0	ATP6V1E1 CL E G H	529	857	OMIM:617402	Cutis laxa, autosomal recessive, type IIC			2
HP:0000496	HP:0000496	Abnormality of eye movement	0	ATP8 CL E G H	4509	7415	ORPHA:480	Kearns-Sayre syndrome
HP:0000496	HP:0000496	Abnormality of eye movement	0	ATP8A2 CL E G H	51761	13533	ORPHA:1766	Dysequilibrium syndrome			24
HP:0000496	HP:0000496	Abnormality of eye movement	0	ATR CL E G H	545	882	OMIM:210600	Seckel syndrome 1			168
HP:0000496	HP:0000496	Abnormality of eye movement	0	ATRX CL E G H	546	886	OMIM:309580	Mental retardation-hypotonic facies syndrome, X-linked, 1			169
HP:0000496	HP:0000496	Abnormality of eye movement	0	ATXN1 CL E G H	6310	10548	OMIM:164400	Spinocerebellar ataxia 1			19
HP:0000496	HP:0000496	Abnormality of eye movement	0	ATXN1 CL E G H	6310	10548	ORPHA:98755	Spinocerebellar ataxia type 1	HP:0040282 - Frequent		19
HP:0000496	HP:0000496	Abnormality of eye movement	0	ATXN10 CL E G H	25814	10549	OMIM:603516	Spinocerebellar ataxia 10			9
HP:0000496	HP:0000496	Abnormality of eye movement	0	ATXN10 CL E G H	25814	10549	ORPHA:98761	Spinocerebellar ataxia type 10			9
HP:0000496	HP:0000496	Abnormality of eye movement	0	ATXN2 CL E G H	6311	10555	OMIM:183090	Spinocerebellar ataxia 2			11
HP:0000496	HP:0000496	Abnormality of eye movement	0	ATXN2 CL E G H	6311	10555	ORPHA:98756	Spinocerebellar ataxia type 2			11
HP:0000496	HP:0000496	Abnormality of eye movement	0	ATXN3 CL E G H	4287	7106	OMIM:109150	Machado-Joseph disease			14
HP:0000496	HP:0000496	Abnormality of eye movement	0	ATXN3 CL E G H	4287	7106	ORPHA:276238	Machado-Joseph disease type 1			14
HP:0000496	HP:0000496	Abnormality of eye movement	0	ATXN3 CL E G H	4287	7106	ORPHA:276241	Machado-Joseph disease type 2			14
HP:0000496	HP:0000496	Abnormality of eye movement	0	ATXN3 CL E G H	4287	7106	ORPHA:276244	Machado-Joseph disease type 3			14
HP:0000496	HP:0000496	Abnormality of eye movement	0	ATXN7 CL E G H	6314	10560	OMIM:164500	Spinocerebellar ataxia 7 opca III opca with retinal degeneration opca with macular degeneration and external ophthalmoplegia autosomal dominant cerebellar ataxia, type II adca, type II			8
HP:0000496	HP:0000496	Abnormality of eye movement	0	ATXN7 CL E G H	6314	10560	ORPHA:94147	Spinocerebellar ataxia type 7			8
HP:0000496	HP:0000496	Abnormality of eye movement	0	ATXN8 CL E G H	724066	32925	OMIM:608768	Spinocerebellar ataxia 8			1
HP:0000496	HP:0000496	Abnormality of eye movement	0	ATXN8 CL E G H	724066	32925	ORPHA:98760	Spinocerebellar ataxia type 8			1
HP:0000496	HP:0000496	Abnormality of eye movement	0	ATXN8OS CL E G H	6315	10561	OMIM:608768	Spinocerebellar ataxia 8			1
HP:0000496	HP:0000496	Abnormality of eye movement	0	ATXN8OS CL E G H	6315	10561	ORPHA:98760	Spinocerebellar ataxia type 8			1
HP:0000496	HP:0000496	Abnormality of eye movement	0	AUTS2 CL E G H	26053	14262	ORPHA:352490	Autism spectrum disorder due to AUTS2 deficiency			61
HP:0000496	HP:0000496	Abnormality of eye movement	0	AUTS2 CL E G H	26053	14262	OMIM:615834	Mental retardation, autosomal dominant 26			61
HP:0000496	HP:0000496	Abnormality of eye movement	0	B3GALNT2 CL E G H	148789	28596	ORPHA:588	Muscle-eye-brain disease			43
HP:0000496	HP:0000496	Abnormality of eye movement	0	B3GAT3 CL E G H	26229	923	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects			5
HP:0000496	HP:0000496	Abnormality of eye movement	0	B3GLCT CL E G H	145173	20207	ORPHA:709	Peters plus syndrome			36
HP:0000496	HP:0000496	Abnormality of eye movement	0	B3GLCT CL E G H	145173	20207	OMIM:261540	Peters-Plus syndrome			36
HP:0000496	HP:0000496	Abnormality of eye movement	0	B4GALNT1 CL E G H	2583	4117	OMIM:609195	Spastic paraplegia 26, autosomal recessive			25
HP:0000496	HP:0000496	Abnormality of eye movement	0	B9D1 CL E G H	27077	24123	ORPHA:475	Joubert syndrome			28
HP:0000496	HP:0000496	Abnormality of eye movement	0	B9D1 CL E G H	27077	24123	OMIM:617120	Joubert syndrome 27			28
HP:0000496	HP:0000496	Abnormality of eye movement	0	B9D2 CL E G H	80776	28636	ORPHA:475	Joubert syndrome			34
HP:0000496	HP:0000496	Abnormality of eye movement	0	BAP1 CL E G H	8314	950	OMIM:619762	KURY-ISIDOR SYNDROME; KURIS			184
HP:0000496	HP:0000496	Abnormality of eye movement	0	BAP1 CL E G H	8314	950	ORPHA:2495	Meningioma			184
HP:0000496	HP:0000496	Abnormality of eye movement	0	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome
HP:0000496	HP:0000496	Abnormality of eye movement	0	BBIP1 CL E G H	92482	28093	ORPHA:110	Bardet-Biedl syndrome			1
HP:0000496	HP:0000496	Abnormality of eye movement	0	BBS1 CL E G H	582	966	ORPHA:110	Bardet-Biedl syndrome			114
HP:0000496	HP:0000496	Abnormality of eye movement	0	BBS1 CL E G H	582	966	OMIM:209900	Bardet-Biedl syndrome 1			114
HP:0000496	HP:0000496	Abnormality of eye movement	0	BBS1 CL E G H	582	966	ORPHA:791	Retinitis pigmentosa			114
HP:0000496	HP:0000496	Abnormality of eye movement	0	BBS10 CL E G H	79738	26291	ORPHA:110	Bardet-Biedl syndrome			118
HP:0000496	HP:0000496	Abnormality of eye movement	0	BBS12 CL E G H	166379	26648	ORPHA:110	Bardet-Biedl syndrome			71
HP:0000496	HP:0000496	Abnormality of eye movement	0	BBS2 CL E G H	583	967	ORPHA:110	Bardet-Biedl syndrome			97
HP:0000496	HP:0000496	Abnormality of eye movement	0	BBS2 CL E G H	583	967	ORPHA:791	Retinitis pigmentosa			97
HP:0000496	HP:0000496	Abnormality of eye movement	0	BBS4 CL E G H	585	969	ORPHA:110	Bardet-Biedl syndrome			87
HP:0000496	HP:0000496	Abnormality of eye movement	0	BBS5 CL E G H	129880	970	ORPHA:110	Bardet-Biedl syndrome			25
HP:0000496	HP:0000496	Abnormality of eye movement	0	BBS7 CL E G H	55212	18758	ORPHA:110	Bardet-Biedl syndrome			66
HP:0000496	HP:0000496	Abnormality of eye movement	0	BBS9 CL E G H	27241	30000	ORPHA:110	Bardet-Biedl syndrome			119
HP:0000496	HP:0000496	Abnormality of eye movement	0	BBS9 CL E G H	27241	30000	OMIM:615986	BARDET-BIEDL SYNDROME 9; BBS9			119
HP:0000496	HP:0000496	Abnormality of eye movement	0	BCAP31 CL E G H	10134	16695	OMIM:300475	Deafness, dystonia, and cerebral hypomyelination			8
HP:0000496	HP:0000496	Abnormality of eye movement	0	BCAP31 CL E G H	10134	16695	ORPHA:369939	Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome	HP:0040283 - Occasional		8
HP:0000496	HP:0000496	Abnormality of eye movement	0	BCAS3 CL E G H	54828	14347	OMIM:619641	HENGEL-MAROOFIAN-SCHOLS SYNDROME; HEMARS			2
HP:0000496	HP:0000496	Abnormality of eye movement	0	BCL11A CL E G H	53335	13221	OMIM:617101	Intellectual developmental disorder with persistence of fetal hemoglobin			11
HP:0000496	HP:0000496	Abnormality of eye movement	0	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome
HP:0000496	HP:0000496	Abnormality of eye movement	0	BCOR CL E G H	54880	20893	ORPHA:568	Microphthalmia, Lenz type			101
HP:0000496	HP:0000496	Abnormality of eye movement	0	BCOR CL E G H	54880	20893	OMIM:300166	Microphthalmia, syndromic 2			101
HP:0000496	HP:0000496	Abnormality of eye movement	0	BCORL1 CL E G H	63035	25657	OMIM:301029	Shukla-Vernon syndrome			17
HP:0000496	HP:0000496	Abnormality of eye movement	0	BCR CL E G H	613	1014	ORPHA:261330	Distal 22q11.2 microdeletion syndrome			5
HP:0000496	HP:0000496	Abnormality of eye movement	0	BDNF CL E G H	627	1033	ORPHA:893	WAGR syndrome			5
HP:0000496	HP:0000496	Abnormality of eye movement	0	BEAN1 CL E G H	146227	24160	OMIM:117210	Spinocerebellar ataxia 31			1
HP:0000496	HP:0000496	Abnormality of eye movement	0	BEAN1 CL E G H	146227	24160	ORPHA:217012	Spinocerebellar ataxia type 31			1
HP:0000496	HP:0000496	Abnormality of eye movement	0	BEST1 CL E G H	7439	12703	ORPHA:35612	Nanophthalmos			182
HP:0000496	HP:0000496	Abnormality of eye movement	0	BEST1 CL E G H	7439	12703	ORPHA:791	Retinitis pigmentosa			182
HP:0000496	HP:0000496	Abnormality of eye movement	0	BEST1 CL E G H	7439	12703	OMIM:193220	VITREORETINOCHOROIDOPATHY			182
HP:0000496	HP:0000496	Abnormality of eye movement	0	BICRA CL E G H	29998	4332	OMIM:619325	COFFIN-SIRIS SYNDROME 12; CSS12			2
HP:0000496	HP:0000496	Abnormality of eye movement	0	BIN1 CL E G H	274	1052	ORPHA:169189	Autosomal dominant centronuclear myopathy			99
HP:0000496	HP:0000496	Abnormality of eye movement	0	BIN1 CL E G H	274	1052	ORPHA:169186	Autosomal recessive centronuclear myopathy			99
HP:0000496	HP:0000496	Abnormality of eye movement	0	BIN1 CL E G H	274	1052	OMIM:255200	Myopathy, centronuclear, 2			99
HP:0000496	HP:0000496	Abnormality of eye movement	0	BLOC1S3 CL E G H	388552	20914	OMIM:614077	Hermansky-Pudlak syndrome 8			42
HP:0000496	HP:0000496	Abnormality of eye movement	0	BLOC1S5 CL E G H	63915	18561	OMIM:619172	HERMANSKY-PUDLAK SYNDROME 11; HPS11
HP:0000496	HP:0000496	Abnormality of eye movement	0	BLOC1S6 CL E G H	26258	8549	OMIM:614171	Hermansky-Pudlak syndrome 9			35
HP:0000496	HP:0000496	Abnormality of eye movement	0	BLTP1 CL E G H	84162	26953	OMIM:617822	Alkuraya-Kucinskas syndrome	.
HP:0000496	HP:0000496	Abnormality of eye movement	0	BMP4 CL E G H	652	1071	ORPHA:139471	Microphthalmia with brain and digit anomalies			38
HP:0000496	HP:0000496	Abnormality of eye movement	0	BMP4 CL E G H	652	1071	OMIM:607932	Microphthalmia, syndromic 6			38
HP:0000496	HP:0000496	Abnormality of eye movement	0	BPTF CL E G H	2186	3581	OMIM:617755	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES; NEDDFL			2
HP:0000496	HP:0000496	Abnormality of eye movement	0	BRAF CL E G H	673	1097	ORPHA:1340	Cardiofaciocutaneous syndrome			276
HP:0000496	HP:0000496	Abnormality of eye movement	0	BRAF CL E G H	673	1097	OMIM:115150	Cardiofaciocutaneous syndrome 1			276
HP:0000496	HP:0000496	Abnormality of eye movement	0	BRAF CL E G H	673	1097	OMIM:613706	Noonan syndrome 7			276
HP:0000496	HP:0000496	Abnormality of eye movement	0	BRAT1 CL E G H	221927	21701	OMIM:618056	Neurodevelopmental disorder with cerebellar atrophy and with or without seizures			20
HP:0000496	HP:0000496	Abnormality of eye movement	0	BRCA1 CL E G H	672	1100	ORPHA:84	Fanconi anemia			5769
HP:0000496	HP:0000496	Abnormality of eye movement	0	BRCA2 CL E G H	675	1101	ORPHA:84	Fanconi anemia			7642
HP:0000496	HP:0000496	Abnormality of eye movement	0	BRD4 CL E G H	23476	13575	ORPHA:199	Cornelia de Lange syndrome
HP:0000496	HP:0000496	Abnormality of eye movement	0	BRF1 CL E G H	2972	11551	ORPHA:444072	Cerebellar-facial-dental syndrome			7
HP:0000496	HP:0000496	Abnormality of eye movement	0	BRF1 CL E G H	2972	11551	OMIM:616202	Cerebellofaciodental syndrome			7
HP:0000496	HP:0000496	Abnormality of eye movement	0	BRIP1 CL E G H	83990	20473	ORPHA:84	Fanconi anemia			1086
HP:0000496	HP:0000496	Abnormality of eye movement	0	BRPF1 CL E G H	7862	14255	OMIM:617333	Intellectual developmental disorder with dysmorphic facies and ptosis			10
HP:0000496	HP:0000496	Abnormality of eye movement	0	BUB1B CL E G H	701	1149	OMIM:257300	Mosaic variegated aneuploidy syndrome 1			76
HP:0000496	HP:0000496	Abnormality of eye movement	0	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome
HP:0000496	HP:0000496	Abnormality of eye movement	0	C19ORF12 CL E G H	83636	25443	ORPHA:289560	Mitochondrial membrane protein-associated neurodegeneration			114
HP:0000496	HP:0000496	Abnormality of eye movement	0	C1QBP CL E G H	708	1243	OMIM:617713	Combined oxidative phosphorylation deficiency 33
HP:0000496	HP:0000496	Abnormality of eye movement	0	C9ORF72 CL E G H	203228	28337	OMIM:105550	Amyotrophic lateral sclerosis and/or frontotemporal dementia 1			56
HP:0000496	HP:0000496	Abnormality of eye movement	0	C9ORF72 CL E G H	203228	28337	ORPHA:275872	Frontotemporal dementia with motor neuron disease			56
HP:0000496	HP:0000496	Abnormality of eye movement	0	CA4 CL E G H	762	1375	ORPHA:791	Retinitis pigmentosa			23
HP:0000496	HP:0000496	Abnormality of eye movement	0	CA8 CL E G H	767	1382	OMIM:613227	Cerebellar ataxia, mental retardation, and dysequilibrium syndrome3			8
HP:0000496	HP:0000496	Abnormality of eye movement	0	CA8 CL E G H	767	1382	ORPHA:1766	Dysequilibrium syndrome			8
HP:0000496	HP:0000496	Abnormality of eye movement	0	CABP4 CL E G H	57010	1386	OMIM:610427	Cone-Rod synaptic disorder, congenital nonprogressive			94
HP:0000496	HP:0000496	Abnormality of eye movement	0	CABP4 CL E G H	57010	1386	ORPHA:215	Congenital stationary night blindness			94
HP:0000496	HP:0000496	Abnormality of eye movement	0	CACNA1A CL E G H	773	1388	ORPHA:2131	Alternating hemiplegia of childhood			449
HP:0000496	HP:0000496	Abnormality of eye movement	0	CACNA1A CL E G H	773	1388	OMIM:617106	Epileptic encephalopathy, early infantile, 42	.		449
HP:0000496	HP:0000496	Abnormality of eye movement	0	CACNA1A CL E G H	773	1388	OMIM:108500	Episodic ataxia, type 2			449
HP:0000496	HP:0000496	Abnormality of eye movement	0	CACNA1A CL E G H	773	1388	ORPHA:569	Familial or sporadic hemiplegic migraine			449
HP:0000496	HP:0000496	Abnormality of eye movement	0	CACNA1A CL E G H	773	1388	ORPHA:97	Familial paroxysmal ataxia			449
HP:0000496	HP:0000496	Abnormality of eye movement	0	CACNA1A CL E G H	773	1388	OMIM:141500	Migraine, familial hemiplegic, 1			449
HP:0000496	HP:0000496	Abnormality of eye movement	0	CACNA1A CL E G H	773	1388	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			449
HP:0000496	HP:0000496	Abnormality of eye movement	0	CACNA1A CL E G H	773	1388	OMIM:183086	Spinocerebellar ataxia 6			449
HP:0000496	HP:0000496	Abnormality of eye movement	0	CACNA1A CL E G H	773	1388	ORPHA:98758	Spinocerebellar ataxia type 6			449
HP:0000496	HP:0000496	Abnormality of eye movement	0	CACNA1B CL E G H	774	1389	OMIM:618497	Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements			5
HP:0000496	HP:0000496	Abnormality of eye movement	0	CACNA1B CL E G H	774	1389	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			5
HP:0000496	HP:0000496	Abnormality of eye movement	0	CACNA1E CL E G H	777	1392	OMIM:618285	Developmental and epileptic encephalopathy 69			11
HP:0000496	HP:0000496	Abnormality of eye movement	0	CACNA1F CL E G H	778	1393	OMIM:300600	Aland island eye disease			58
HP:0000496	HP:0000496	Abnormality of eye movement	0	CACNA1F CL E G H	778	1393	ORPHA:178333	Åland Islands eye disease			58
HP:0000496	HP:0000496	Abnormality of eye movement	0	CACNA1F CL E G H	778	1393	OMIM:300476	Cone-Rod dystrophy, X-linked, 3			58
HP:0000496	HP:0000496	Abnormality of eye movement	0	CACNA1F CL E G H	778	1393	ORPHA:215	Congenital stationary night blindness			58
HP:0000496	HP:0000496	Abnormality of eye movement	0	CACNA1F CL E G H	778	1393	OMIM:300071	Night blindness, congenital stationary, type 2A			58
HP:0000496	HP:0000496	Abnormality of eye movement	0	CACNA1G CL E G H	8913	1394	OMIM:616795	Spinocerebellar ataxia 42			32
HP:0000496	HP:0000496	Abnormality of eye movement	0	CACNA1G CL E G H	8913	1394	OMIM:618087	Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits			32
HP:0000496	HP:0000496	Abnormality of eye movement	0	CACNA1G CL E G H	8913	1394	ORPHA:458803	Spinocerebellar ataxia type 42			32
HP:0000496	HP:0000496	Abnormality of eye movement	0	CACNA1H CL E G H	8912	1395	ORPHA:64280	Childhood absence epilepsy			75
HP:0000496	HP:0000496	Abnormality of eye movement	0	CACNA1S CL E G H	779	1397	ORPHA:79102	Thyrotoxic periodic paralysis			247
HP:0000496	HP:0000496	Abnormality of eye movement	0	CACNA2D1 CL E G H	781	1399	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			59
HP:0000496	HP:0000496	Abnormality of eye movement	0	CACNA2D2 CL E G H	9254	1400	OMIM:618501	Cerebellar atrophy with seizures and variable developmental delay	.		48
HP:0000496	HP:0000496	Abnormality of eye movement	0	CACNA2D4 CL E G H	93589	20202	ORPHA:215	Congenital stationary night blindness			129
HP:0000496	HP:0000496	Abnormality of eye movement	0	CACNB4 CL E G H	785	1404	OMIM:607682	Epilepsy, idiopathic generalized, susceptibility to, 9			146
HP:0000496	HP:0000496	Abnormality of eye movement	0	CACNB4 CL E G H	785	1404	ORPHA:211067	Episodic ataxia type 5			146
HP:0000496	HP:0000496	Abnormality of eye movement	0	CACNB4 CL E G H	785	1404	OMIM:613855	Episodic ataxia, type 5			146
HP:0000496	HP:0000496	Abnormality of eye movement	0	CACNB4 CL E G H	785	1404	ORPHA:307	Juvenile myoclonic epilepsy	HP:0040282 - Frequent		146
HP:0000496	HP:0000496	Abnormality of eye movement	0	CAMK2A CL E G H	815	1460	OMIM:617798	Mental retardation, autosomal dominant 53			1
HP:0000496	HP:0000496	Abnormality of eye movement	0	CAMK2B CL E G H	816	1461	OMIM:617799	Mental retardation, autosomal dominant 54
HP:0000496	HP:0000496	Abnormality of eye movement	0	CAMK2G CL E G H	818	1463	OMIM:618522	Intellectual developmental disorder 59			1
HP:0000496	HP:0000496	Abnormality of eye movement	0	CAMTA1 CL E G H	23261	18806	OMIM:614756	Cerebellar ataxia, nonprogressive, with mental retardation			34
HP:0000496	HP:0000496	Abnormality of eye movement	0	CAMTA1 CL E G H	23261	18806	ORPHA:314647	Non-progressive cerebellar ataxia with intellectual disability			34
HP:0000496	HP:0000496	Abnormality of eye movement	0	CAPN1 CL E G H	823	1476	ORPHA:488594	Autosomal recessive spastic paraplegia type 76	HP:0040283 - Occasional		4
HP:0000496	HP:0000496	Abnormality of eye movement	0	CAPN1 CL E G H	823	1476	OMIM:616907	SPASTIC PARAPLEGIA 76, AUTOSOMAL RECESSIVE; SPG76			4
HP:0000496	HP:0000496	Abnormality of eye movement	0	CARS1 CL E G H	833	1493	OMIM:618891	MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME; MDBH
HP:0000496	HP:0000496	Abnormality of eye movement	0	CARS1 CL E G H	833	1493	ORPHA:33364	Trichothiodystrophy
HP:0000496	HP:0000496	Abnormality of eye movement	0	CASK CL E G H	8573	1497	ORPHA:1934	Early infantile epileptic encephalopathy			118
HP:0000496	HP:0000496	Abnormality of eye movement	0	CASK CL E G H	8573	1497	OMIM:300749	Mental retardation and microcephaly with pontine and cerebellar hypoplasia			118
HP:0000496	HP:0000496	Abnormality of eye movement	0	CASK CL E G H	8573	1497	ORPHA:163937	X-linked intellectual disability, Najm type			118
HP:0000496	HP:0000496	Abnormality of eye movement	0	CASZ1 CL E G H	54897	26002	ORPHA:1606	1p36 deletion syndrome			3
HP:0000496	HP:0000496	Abnormality of eye movement	0	CAV1 CL E G H	857	1527	OMIM:606721	Lipodystrophy, familial partial, type 7			11
HP:0000496	HP:0000496	Abnormality of eye movement	0	CBL CL E G H	867	1541	ORPHA:648	Noonan syndrome			317
HP:0000496	HP:0000496	Abnormality of eye movement	0	CBY1 CL E G H	25776	1307	ORPHA:475	Joubert syndrome			1
HP:0000496	HP:0000496	Abnormality of eye movement	0	CC2D2A CL E G H	57545	29253	OMIM:619111	COACH SYNDROME 2; COACH2			247
HP:0000496	HP:0000496	Abnormality of eye movement	0	CC2D2A CL E G H	57545	29253	OMIM:612285	Joubert syndrome 9			247
HP:0000496	HP:0000496	Abnormality of eye movement	0	CC2D2A CL E G H	57545	29253	ORPHA:1454	Joubert syndrome with hepatic defect			247
HP:0000496	HP:0000496	Abnormality of eye movement	0	CC2D2A CL E G H	57545	29253	ORPHA:2318	Joubert syndrome with oculorenal defect			247
HP:0000496	HP:0000496	Abnormality of eye movement	0	CCDC141 CL E G H	285025	26821	ORPHA:478	Kallmann syndrome
HP:0000496	HP:0000496	Abnormality of eye movement	0	CCDC174 CL E G H	51244	28033	OMIM:616816	Hypotonia, infantile, with psychomotor retardation			1
HP:0000496	HP:0000496	Abnormality of eye movement	0	CCDC28B CL E G H	79140	28163	OMIM:209900	Bardet-Biedl syndrome 1			4
HP:0000496	HP:0000496	Abnormality of eye movement	0	CCDC88C CL E G H	440193	19967	ORPHA:423275	Spinocerebellar ataxia type 40			54
HP:0000496	HP:0000496	Abnormality of eye movement	0	CCNQ CL E G H	92002	28434	OMIM:300707	Toe syndactyly, telecanthus, and anogenital and renal malformations			7
HP:0000496	HP:0000496	Abnormality of eye movement	0	CD96 CL E G H	10225	16892	OMIM:211750	C syndrome			83
HP:0000496	HP:0000496	Abnormality of eye movement	0	CD96 CL E G H	10225	16892	ORPHA:1308	C syndrome			83
HP:0000496	HP:0000496	Abnormality of eye movement	0	CDC42 CL E G H	998	1736	ORPHA:487796	Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome			6
HP:0000496	HP:0000496	Abnormality of eye movement	0	CDC42 CL E G H	998	1736	OMIM:616737	Takenouchi-Kosaki syndrome			6
HP:0000496	HP:0000496	Abnormality of eye movement	0	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0000496	HP:0000496	Abnormality of eye movement	0	CDC45 CL E G H	8318	1739	OMIM:617063	Meier-Gorlin syndrome 7			9
HP:0000496	HP:0000496	Abnormality of eye movement	0	CDCA7 CL E G H	83879	14628	OMIM:616910	Immunodeficiency-Centromeric instability-facial anomalies syndrome 3			4
HP:0000496	HP:0000496	Abnormality of eye movement	0	CDH11 CL E G H	1009	1750	ORPHA:1299	Branchioskeletogenital syndrome			2
HP:0000496	HP:0000496	Abnormality of eye movement	0	CDH11 CL E G H	1009	1750	OMIM:211380	Elsahy-Waters syndrome			2
HP:0000496	HP:0000496	Abnormality of eye movement	0	CDH2 CL E G H	1000	1759	OMIM:618929	AGENESIS OF CORPUS CALLOSUM, CARDIAC, OCULAR, AND GENITAL SYNDROME; ACOGS
HP:0000496	HP:0000496	Abnormality of eye movement	0	CDH23 CL E G H	64072	13733	ORPHA:2965	Prolactinoma			636
HP:0000496	HP:0000496	Abnormality of eye movement	0	CDH23 CL E G H	64072	13733	ORPHA:91347	TSH-secreting pituitary adenoma			636
HP:0000496	HP:0000496	Abnormality of eye movement	0	CDH3 CL E G H	1001	1762	ORPHA:1897	EEM syndrome			87
HP:0000496	HP:0000496	Abnormality of eye movement	0	CDH3 CL E G H	1001	1762	ORPHA:1573	Hypotrichosis with juvenile macular degeneration			87
HP:0000496	HP:0000496	Abnormality of eye movement	0	CDHR1 CL E G H	92211	14550	ORPHA:791	Retinitis pigmentosa			147
HP:0000496	HP:0000496	Abnormality of eye movement	0	CDK13 CL E G H	8621	1733	OMIM:617360	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder			8
HP:0000496	HP:0000496	Abnormality of eye movement	0	CDK19 CL E G H	23097	19338	ORPHA:442835	Non-specific early-onset epileptic encephalopathy
HP:0000496	HP:0000496	Abnormality of eye movement	0	CDK8 CL E G H	1024	1779	OMIM:618748	INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA AND BEHAVIORAL ABNORMALITIES; IDDHBA
HP:0000496	HP:0000496	Abnormality of eye movement	0	CDKL5 CL E G H	6792	11411	ORPHA:1934	Early infantile epileptic encephalopathy			405
HP:0000496	HP:0000496	Abnormality of eye movement	0	CDON CL E G H	50937	17104	ORPHA:280200	Microform holoprosencephaly			200
HP:0000496	HP:0000496	Abnormality of eye movement	0	CELF2 CL E G H	10659	2550	OMIM:619561	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 97; DEE97
HP:0000496	HP:0000496	Abnormality of eye movement	0	CELF2 CL E G H	10659	2550	ORPHA:442835	Non-specific early-onset epileptic encephalopathy
HP:0000496	HP:0000496	Abnormality of eye movement	0	CENPE CL E G H	1062	1856	OMIM:616051	Microcephaly 13, primary, autosomal recessive			20
HP:0000496	HP:0000496	Abnormality of eye movement	0	CENPJ CL E G H	55835	17272	OMIM:608393	Microcephaly, primary autosomal recessive, 6			161
HP:0000496	HP:0000496	Abnormality of eye movement	0	CEP104 CL E G H	9731	24866	OMIM:619988				5
HP:0000496	HP:0000496	Abnormality of eye movement	0	CEP104 CL E G H	9731	24866	ORPHA:475	Joubert syndrome			5
HP:0000496	HP:0000496	Abnormality of eye movement	0	CEP104 CL E G H	9731	24866	OMIM:616781	Joubert syndrome 25			5
HP:0000496	HP:0000496	Abnormality of eye movement	0	CEP120 CL E G H	153241	26690	ORPHA:475	Joubert syndrome			7
HP:0000496	HP:0000496	Abnormality of eye movement	0	CEP120 CL E G H	153241	26690	OMIM:617761	Joubert syndrome 31			7
HP:0000496	HP:0000496	Abnormality of eye movement	0	CEP120 CL E G H	153241	26690	ORPHA:220493	Joubert syndrome with ocular defect			7
HP:0000496	HP:0000496	Abnormality of eye movement	0	CEP152 CL E G H	22995	29298	OMIM:613823	Seckel syndrome 5			146
HP:0000496	HP:0000496	Abnormality of eye movement	0	CEP164 CL E G H	22897	29182	OMIM:614845	Nephronophthisis 15			34
HP:0000496	HP:0000496	Abnormality of eye movement	0	CEP19 CL E G H	84984	28209	ORPHA:110	Bardet-Biedl syndrome			1
HP:0000496	HP:0000496	Abnormality of eye movement	0	CEP290 CL E G H	80184	29021	ORPHA:110	Bardet-Biedl syndrome			342
HP:0000496	HP:0000496	Abnormality of eye movement	0	CEP290 CL E G H	80184	29021	OMIM:615991	Bardet-Biedl syndrome 14			342
HP:0000496	HP:0000496	Abnormality of eye movement	0	CEP290 CL E G H	80184	29021	OMIM:610188	Joubert syndrome 5			342
HP:0000496	HP:0000496	Abnormality of eye movement	0	CEP290 CL E G H	80184	29021	ORPHA:2318	Joubert syndrome with oculorenal defect			342
HP:0000496	HP:0000496	Abnormality of eye movement	0	CEP290 CL E G H	80184	29021	ORPHA:65	Leber congenital amaurosis			342
HP:0000496	HP:0000496	Abnormality of eye movement	0	CEP41 CL E G H	95681	12370	ORPHA:475	Joubert syndrome			90
HP:0000496	HP:0000496	Abnormality of eye movement	0	CEP41 CL E G H	95681	12370	OMIM:614464	Joubert syndrome 15			90
HP:0000496	HP:0000496	Abnormality of eye movement	0	CEP41 CL E G H	95681	12370	ORPHA:220493	Joubert syndrome with ocular defect			90
HP:0000496	HP:0000496	Abnormality of eye movement	0	CEP78 CL E G H	84131	25740	OMIM:617236	CONE-ROD DYSTROPHY AND HEARING LOSS; CRDHL			9
HP:0000496	HP:0000496	Abnormality of eye movement	0	CEP83 CL E G H	51134	17966	OMIM:615862	Nephronophthisis 18			10
HP:0000496	HP:0000496	Abnormality of eye movement	0	CEP85L CL E G H	387119	21638	ORPHA:572013	Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome			1
HP:0000496	HP:0000496	Abnormality of eye movement	0	CERKL CL E G H	375298	21699	ORPHA:791	Retinitis pigmentosa			71
HP:0000496	HP:0000496	Abnormality of eye movement	0	CERS1 CL E G H	10715	14253	OMIM:616230	Epilepsy, progressive myoclonic, 8			1
HP:0000496	HP:0000496	Abnormality of eye movement	0	CFAP410 CL E G H	755	1260	OMIM:602271	Spondylometaphyseal dysplasia, axial
HP:0000496	HP:0000496	Abnormality of eye movement	0	CFAP418 CL E G H	157657	27232	ORPHA:110	Bardet-Biedl syndrome
HP:0000496	HP:0000496	Abnormality of eye movement	0	CFAP418 CL E G H	157657	27232	ORPHA:791	Retinitis pigmentosa
HP:0000496	HP:0000496	Abnormality of eye movement	0	CHAMP1 CL E G H	283489	20311	OMIM:616579	Mental retardation, autosomal dominant 40			16
HP:0000496	HP:0000496	Abnormality of eye movement	0	CHAT CL E G H	1103	1912	OMIM:254210	Myasthenic syndrome, congenital, 6, presynaptic			65
HP:0000496	HP:0000496	Abnormality of eye movement	0	CHAT CL E G H	1103	1912	ORPHA:98914	Presynaptic congenital myasthenic syndromes			65
HP:0000496	HP:0000496	Abnormality of eye movement	0	CHCHD10 CL E G H	400916	15559	ORPHA:275872	Frontotemporal dementia with motor neuron disease			11
HP:0000496	HP:0000496	Abnormality of eye movement	0	CHD3 CL E G H	1107	1918	OMIM:618205	Snijders blok-campeau syndrome			2
HP:0000496	HP:0000496	Abnormality of eye movement	0	CHD7 CL E G H	55636	20626	ORPHA:138	CHARGE syndrome			515
HP:0000496	HP:0000496	Abnormality of eye movement	0	CHD7 CL E G H	55636	20626	ORPHA:478	Kallmann syndrome			515
HP:0000496	HP:0000496	Abnormality of eye movement	0	CHKA CL E G H	1119	1937	OMIM:620023
HP:0000496	HP:0000496	Abnormality of eye movement	0	CHMP1A CL E G H	5119	8740	OMIM:614961	Pontocerebellar hypoplasia, type 8			19
HP:0000496	HP:0000496	Abnormality of eye movement	0	CHN1 CL E G H	1123	1943	ORPHA:233	Duane retraction syndrome	HP:0040281 - Very frequent		35
HP:0000496	HP:0000496	Abnormality of eye movement	0	CHN1 CL E G H	1123	1943	OMIM:604356	DUANE RETRACTION SYNDROME 2; DURS2			35
HP:0000496	HP:0000496	Abnormality of eye movement	0	CHP1 CL E G H	11261	17433	OMIM:618438	Spastic ataxia 9, autosomal recessive
HP:0000496	HP:0000496	Abnormality of eye movement	0	CHRNA1 CL E G H	1134	1955	OMIM:601462	Myasthenic syndrome, congenital, 1A, slow-channel			74
HP:0000496	HP:0000496	Abnormality of eye movement	0	CHRNA1 CL E G H	1134	1955	OMIM:608930	Myasthenic syndrome, congenital, 1B, fast-channel			74
HP:0000496	HP:0000496	Abnormality of eye movement	0	CHRNA1 CL E G H	1134	1955	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent		74
HP:0000496	HP:0000496	Abnormality of eye movement	0	CHRNA7 CL E G H	1139	1960	ORPHA:199318	15q13.3 microdeletion syndrome			52
HP:0000496	HP:0000496	Abnormality of eye movement	0	CHRNA7 CL E G H	1139	1960	OMIM:612001	Chromosome 15q13.3 microdeletion syndrome			52
HP:0000496	HP:0000496	Abnormality of eye movement	0	CHRNB1 CL E G H	1140	1961	OMIM:616313	Myasthenic syndrome, congenital, 2A, slow-channel			53
HP:0000496	HP:0000496	Abnormality of eye movement	0	CHRNB1 CL E G H	1140	1961	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent		53
HP:0000496	HP:0000496	Abnormality of eye movement	0	CHRND CL E G H	1144	1965	OMIM:616322	Myasthenic syndrome, congenital, 3B, fast-channel			88
HP:0000496	HP:0000496	Abnormality of eye movement	0	CHRND CL E G H	1144	1965	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent		88
HP:0000496	HP:0000496	Abnormality of eye movement	0	CHRNE CL E G H	1145	1966	OMIM:605809	Myasthenic syndrome, congenital, 4A, slow-channel			139
HP:0000496	HP:0000496	Abnormality of eye movement	0	CHRNE CL E G H	1145	1966	OMIM:616324	Myasthenic syndrome, congenital, 4B, fast-channel			139
HP:0000496	HP:0000496	Abnormality of eye movement	0	CHRNE CL E G H	1145	1966	OMIM:608931	Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency			139
HP:0000496	HP:0000496	Abnormality of eye movement	0	CHRNE CL E G H	1145	1966	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent		139
HP:0000496	HP:0000496	Abnormality of eye movement	0	CHRNG CL E G H	1146	1967	ORPHA:2990	Autosomal recessive multiple pterygium syndrome			68
HP:0000496	HP:0000496	Abnormality of eye movement	0	CHST14 CL E G H	113189	24464	OMIM:601776	Ehlers-Danlos syndrome, musculocontractural type 1			27
HP:0000496	HP:0000496	Abnormality of eye movement	0	CHST14 CL E G H	113189	24464	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome			27
HP:0000496	HP:0000496	Abnormality of eye movement	0	CHST3 CL E G H	9469	1971	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects			165
HP:0000496	HP:0000496	Abnormality of eye movement	0	CILK1 CL E G H	22858	21219	ORPHA:307	Juvenile myoclonic epilepsy	HP:0040282 - Frequent
HP:0000496	HP:0000496	Abnormality of eye movement	0	CISD2 CL E G H	493856	24212	ORPHA:3463	Wolfram syndrome			3
HP:0000496	HP:0000496	Abnormality of eye movement	0	CLCN2 CL E G H	1181	2020	ORPHA:307	Juvenile myoclonic epilepsy	HP:0040282 - Frequent		44
HP:0000496	HP:0000496	Abnormality of eye movement	0	CLCN3 CL E G H	1182	2021	OMIM:619512	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA			2
HP:0000496	HP:0000496	Abnormality of eye movement	0	CLCN3 CL E G H	1182	2021	OMIM:619517	NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ABNORMALITIES; NEDSBA			2
HP:0000496	HP:0000496	Abnormality of eye movement	0	CLCN4 CL E G H	1183	2022	ORPHA:485350	CLCN4-related X-linked intellectual disability syndrome			45
HP:0000496	HP:0000496	Abnormality of eye movement	0	CLCN4 CL E G H	1183	2022	OMIM:300114	Raynaud-Claes syndrome			45
HP:0000496	HP:0000496	Abnormality of eye movement	0	CLCN6 CL E G H	1185	2024	OMIM:619173	NEURODEGENERATION, CHILDHOOD-ONSET, WITH HYPOTONIA, RESPIRATORY INSUFFICIENCY, AND BRAIN IMAGING ABNORMALITIES; CONRIBA
HP:0000496	HP:0000496	Abnormality of eye movement	0	CLCN7 CL E G H	1186	2025	ORPHA:667	Autosomal recessive malignant osteopetrosis			102
HP:0000496	HP:0000496	Abnormality of eye movement	0	CLDN11 CL E G H	5010	8514	OMIM:619328	Leukodystrophy, hypomyelinating, 22
HP:0000496	HP:0000496	Abnormality of eye movement	0	CLDN16 CL E G H	10686	2037	OMIM:248250	Hypomagnesemia 3, renal			58
HP:0000496	HP:0000496	Abnormality of eye movement	0	CLDN19 CL E G H	149461	2040	ORPHA:2196	Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement			42
HP:0000496	HP:0000496	Abnormality of eye movement	0	CLDN19 CL E G H	149461	2040	OMIM:248190	Hypomagnesemia 5, renal, with or without ocular involvement			42
HP:0000496	HP:0000496	Abnormality of eye movement	0	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome
HP:0000496	HP:0000496	Abnormality of eye movement	0	CLN3 CL E G H	1201	2074	ORPHA:228346	CLN3 disease			216
HP:0000496	HP:0000496	Abnormality of eye movement	0	CLN5 CL E G H	1203	2076	OMIM:256731	Ceroid lipofuscinosis, neuronal, 5			141
HP:0000496	HP:0000496	Abnormality of eye movement	0	CLN5 CL E G H	1203	2076	ORPHA:228360	CLN5 disease			141
HP:0000496	HP:0000496	Abnormality of eye movement	0	CLP1 CL E G H	10978	16999	ORPHA:411493	Pontocerebellar hypoplasia type 10			7
HP:0000496	HP:0000496	Abnormality of eye movement	0	CLP1 CL E G H	10978	16999	OMIM:615803	Pontocerebellar hypoplasia, type 10			7
HP:0000496	HP:0000496	Abnormality of eye movement	0	CLPB CL E G H	81570	30664	ORPHA:445038	3-methylglutaconic aciduria type 7			38
HP:0000496	HP:0000496	Abnormality of eye movement	0	CLPB CL E G H	81570	30664	OMIM:616271	3-Methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia			38
HP:0000496	HP:0000496	Abnormality of eye movement	0	CLRN1 CL E G H	7401	12605	ORPHA:791	Retinitis pigmentosa			60
HP:0000496	HP:0000496	Abnormality of eye movement	0	CLTC CL E G H	1213	2092	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			1
HP:0000496	HP:0000496	Abnormality of eye movement	0	CLTCL1 CL E G H	8218	2093	ORPHA:453510	Congenital insensitivity to pain with severe intellectual disability			6
HP:0000496	HP:0000496	Abnormality of eye movement	0	CLTRN CL E G H	57393	29437	ORPHA:2116	Hartnup disease
HP:0000496	HP:0000496	Abnormality of eye movement	0	CNGA1 CL E G H	1259	2148	ORPHA:791	Retinitis pigmentosa			44
HP:0000496	HP:0000496	Abnormality of eye movement	0	CNGA3 CL E G H	1261	2150	ORPHA:49382	Achromatopsia			82
HP:0000496	HP:0000496	Abnormality of eye movement	0	CNGA3 CL E G H	1261	2150	OMIM:216900	Achromatopsia 2			82
HP:0000496	HP:0000496	Abnormality of eye movement	0	CNGB1 CL E G H	1258	2151	ORPHA:791	Retinitis pigmentosa			164
HP:0000496	HP:0000496	Abnormality of eye movement	0	CNGB3 CL E G H	54714	2153	ORPHA:49382	Achromatopsia			194
HP:0000496	HP:0000496	Abnormality of eye movement	0	CNGB3 CL E G H	54714	2153	OMIM:262300	Achromatopsia 3			194
HP:0000496	HP:0000496	Abnormality of eye movement	0	CNGB3 CL E G H	54714	2153	ORPHA:827	Stargardt disease			194
HP:0000496	HP:0000496	Abnormality of eye movement	0	CNKSR2 CL E G H	22866	19701	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			18
HP:0000496	HP:0000496	Abnormality of eye movement	0	CNNM4 CL E G H	26504	105	OMIM:217080	Jalili syndrome			61
HP:0000496	HP:0000496	Abnormality of eye movement	0	CNNM4 CL E G H	26504	105	ORPHA:1873	Jalili syndrome			61
HP:0000496	HP:0000496	Abnormality of eye movement	0	CNOT3 CL E G H	4849	7879	OMIM:618672	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, AUTISM, AND DYSMORPHIC FACIES; IDDSADF
HP:0000496	HP:0000496	Abnormality of eye movement	0	CNTNAP2 CL E G H	26047	13830	ORPHA:163681	CNTNAP2-related developmental and epileptic encephalopathy			518
HP:0000496	HP:0000496	Abnormality of eye movement	0	COG4 CL E G H	25839	18620	ORPHA:263501	COG4-CDG			67
HP:0000496	HP:0000496	Abnormality of eye movement	0	COG4 CL E G H	25839	18620	OMIM:613489	Congenital disorder of glycosylation, type IIj			67
HP:0000496	HP:0000496	Abnormality of eye movement	0	COG5 CL E G H	10466	14857	ORPHA:263487	COG5-CDG			79
HP:0000496	HP:0000496	Abnormality of eye movement	0	COG8 CL E G H	84342	18623	ORPHA:95428	COG8-CDG			39
HP:0000496	HP:0000496	Abnormality of eye movement	0	COG8 CL E G H	84342	18623	OMIM:611182	Congenital disorder of glycosylation, type IIh			39
HP:0000496	HP:0000496	Abnormality of eye movement	0	COL11A1 CL E G H	1301	2186	OMIM:154780	Marshall syndrome			215
HP:0000496	HP:0000496	Abnormality of eye movement	0	COL11A1 CL E G H	1301	2186	ORPHA:560	Marshall syndrome			215
HP:0000496	HP:0000496	Abnormality of eye movement	0	COL11A2 CL E G H	1302	2187	ORPHA:1427	Otospondylomegaepiphyseal dysplasia			222
HP:0000496	HP:0000496	Abnormality of eye movement	0	COL12A1 CL E G H	1303	2188	ORPHA:75840	Congenital muscular dystrophy, Ullrich type			65
HP:0000496	HP:0000496	Abnormality of eye movement	0	COL13A1 CL E G H	1305	2190	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent		6
HP:0000496	HP:0000496	Abnormality of eye movement	0	COL13A1 CL E G H	1305	2190	ORPHA:98914	Presynaptic congenital myasthenic syndromes			6
HP:0000496	HP:0000496	Abnormality of eye movement	0	COL18A1 CL E G H	80781	2195	ORPHA:1571	Knobloch syndrome			177
HP:0000496	HP:0000496	Abnormality of eye movement	0	COL18A1 CL E G H	80781	2195	OMIM:267750	Knobloch syndrome 1			177
HP:0000496	HP:0000496	Abnormality of eye movement	0	COL1A2 CL E G H	1278	2198	ORPHA:230851	Cardiac-valvular Ehlers-Danlos syndrome			243
HP:0000496	HP:0000496	Abnormality of eye movement	0	COL25A1 CL E G H	84570	18603	ORPHA:91411	Congenital ptosis			3
HP:0000496	HP:0000496	Abnormality of eye movement	0	COL25A1 CL E G H	84570	18603	OMIM:616219	Fibrosis of extraocular muscles, congenital, 5			3
HP:0000496	HP:0000496	Abnormality of eye movement	0	COL2A1 CL E G H	1280	2200	ORPHA:93315	Spondylometaphyseal dysplasia, 'corner fracture' type			284
HP:0000496	HP:0000496	Abnormality of eye movement	0	COL3A1 CL E G H	1281	2201	ORPHA:231160	Familial cerebral saccular aneurysm			749
HP:0000496	HP:0000496	Abnormality of eye movement	0	COL3A1 CL E G H	1281	2201	OMIM:618343	Polymicrogyria with or without vascular-type ehlers-danlos syndrome	.		749
HP:0000496	HP:0000496	Abnormality of eye movement	0	COL4A1 CL E G H	1282	2202	OMIM:175780	Brain small vessel disease 1 with or without ocular anomalies			193
HP:0000496	HP:0000496	Abnormality of eye movement	0	COL4A2 CL E G H	1284	2203	OMIM:614483	PORENCEPHALY 2; POREN2			147
HP:0000496	HP:0000496	Abnormality of eye movement	0	COL6A1 CL E G H	1291	2211	ORPHA:75840	Congenital muscular dystrophy, Ullrich type			442
HP:0000496	HP:0000496	Abnormality of eye movement	0	COL6A2 CL E G H	1292	2212	ORPHA:75840	Congenital muscular dystrophy, Ullrich type			478
HP:0000496	HP:0000496	Abnormality of eye movement	0	COL6A3 CL E G H	1293	2213	ORPHA:75840	Congenital muscular dystrophy, Ullrich type			702
HP:0000496	HP:0000496	Abnormality of eye movement	0	COL8A2 CL E G H	1296	2216	ORPHA:98973	Posterior polymorphous corneal dystrophy			3
HP:0000496	HP:0000496	Abnormality of eye movement	0	COLEC11 CL E G H	78989	17213	OMIM:265050	3mc syndrome 2			9
HP:0000496	HP:0000496	Abnormality of eye movement	0	COLQ CL E G H	8292	2226	OMIM:603034	Myasthenic syndrome, congenital, 5			90
HP:0000496	HP:0000496	Abnormality of eye movement	0	COLQ CL E G H	8292	2226	ORPHA:98915	Synaptic congenital myasthenic syndromes			90
HP:0000496	HP:0000496	Abnormality of eye movement	0	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome			6
HP:0000496	HP:0000496	Abnormality of eye movement	0	COQ2 CL E G H	27235	25223	OMIM:607426	Coenzyme Q10 deficiency, primary, 1			54
HP:0000496	HP:0000496	Abnormality of eye movement	0	COQ2 CL E G H	27235	25223	OMIM:146500	Multiple system atrophy 1, susceptibility to			54
HP:0000496	HP:0000496	Abnormality of eye movement	0	COQ2 CL E G H	27235	25223	ORPHA:227510	Multiple system atrophy, cerebellar type			54
HP:0000496	HP:0000496	Abnormality of eye movement	0	COQ2 CL E G H	27235	25223	ORPHA:98933	Multiple system atrophy, parkinsonian type			54
HP:0000496	HP:0000496	Abnormality of eye movement	0	COQ5 CL E G H	84274	28722	OMIM:619028	COENZYME Q10 DEFICIENCY, PRIMARY, 9; COQ10D9
HP:0000496	HP:0000496	Abnormality of eye movement	0	COQ8A CL E G H	56997	16812	ORPHA:139485	Autosomal recessive ataxia due to ubiquinone deficiency			136
HP:0000496	HP:0000496	Abnormality of eye movement	0	COX1 CL E G H	4512	7419	ORPHA:550	MELAS
HP:0000496	HP:0000496	Abnormality of eye movement	0	COX1 CL E G H	4512	7419	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0000496	HP:0000496	Abnormality of eye movement	0	COX10 CL E G H	1352	2260	OMIM:619046	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 3; MC4DN3			82
HP:0000496	HP:0000496	Abnormality of eye movement	0	COX15 CL E G H	1355	2263	ORPHA:255241	Leigh syndrome with leukodystrophy			104
HP:0000496	HP:0000496	Abnormality of eye movement	0	COX16 CL E G H	51241	20213	OMIM:619355	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 22; MC4DN22
HP:0000496	HP:0000496	Abnormality of eye movement	0	COX2 CL E G H	4513	7421	ORPHA:550	MELAS
HP:0000496	HP:0000496	Abnormality of eye movement	0	COX2 CL E G H	4513	7421	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0000496	HP:0000496	Abnormality of eye movement	0	COX3 CL E G H	4514	7422	ORPHA:550	MELAS
HP:0000496	HP:0000496	Abnormality of eye movement	0	COX3 CL E G H	4514	7422	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0000496	HP:0000496	Abnormality of eye movement	0	CP CL E G H	1356	2295	ORPHA:48818	Aceruloplasminemia			115
HP:0000496	HP:0000496	Abnormality of eye movement	0	CPLANE1 CL E G H	65250	25801	ORPHA:475	Joubert syndrome
HP:0000496	HP:0000496	Abnormality of eye movement	0	CPLANE1 CL E G H	65250	25801	OMIM:614615	Joubert syndrome 17
HP:0000496	HP:0000496	Abnormality of eye movement	0	CPLANE1 CL E G H	65250	25801	ORPHA:2754	Orofaciodigital syndrome type 6
HP:0000496	HP:0000496	Abnormality of eye movement	0	CPLANE1 CL E G H	65250	25801	OMIM:277170	Orofaciodigital syndrome VI
HP:0000496	HP:0000496	Abnormality of eye movement	0	CPLX1 CL E G H	10815	2309	OMIM:194190	Wolf-Hirschhorn syndrome			1
HP:0000496	HP:0000496	Abnormality of eye movement	0	CPLX1 CL E G H	10815	2309	ORPHA:280	Wolf-Hirschhorn syndrome			1
HP:0000496	HP:0000496	Abnormality of eye movement	0	CPSF3 CL E G H	51692	2326	OMIM:619876
HP:0000496	HP:0000496	Abnormality of eye movement	0	CRB1 CL E G H	23418	2343	ORPHA:65	Leber congenital amaurosis			156
HP:0000496	HP:0000496	Abnormality of eye movement	0	CRB1 CL E G H	23418	2343	OMIM:613835	Leber congenital amaurosis 8			156
HP:0000496	HP:0000496	Abnormality of eye movement	0	CRB1 CL E G H	23418	2343	ORPHA:35612	Nanophthalmos			156
HP:0000496	HP:0000496	Abnormality of eye movement	0	CRB1 CL E G H	23418	2343	OMIM:172870	Pigmented paravenous chorioretinal atrophy			156
HP:0000496	HP:0000496	Abnormality of eye movement	0	CRB1 CL E G H	23418	2343	ORPHA:791	Retinitis pigmentosa			156
HP:0000496	HP:0000496	Abnormality of eye movement	0	CRB1 CL E G H	23418	2343	OMIM:600105	Retinitis pigmentosa 12			156
HP:0000496	HP:0000496	Abnormality of eye movement	0	CREBBP CL E G H	1387	2348	OMIM:618332	MENKE-HENNEKAM SYNDROME 1; MKHK1			291
HP:0000496	HP:0000496	Abnormality of eye movement	0	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1			291
HP:0000496	HP:0000496	Abnormality of eye movement	0	CREBBP CL E G H	1387	2348	ORPHA:353277	Rubinstein-Taybi syndrome due to CREBBP mutations			291
HP:0000496	HP:0000496	Abnormality of eye movement	0	CRIPT CL E G H	9419	14312	OMIM:615789	Short stature with microcephaly and distinctive facies			4
HP:0000496	HP:0000496	Abnormality of eye movement	0	CRKL CL E G H	1399	2363	ORPHA:261330	Distal 22q11.2 microdeletion syndrome
HP:0000496	HP:0000496	Abnormality of eye movement	0	CRX CL E G H	1406	2383	ORPHA:65	Leber congenital amaurosis			158
HP:0000496	HP:0000496	Abnormality of eye movement	0	CRX CL E G H	1406	2383	OMIM:613829	Leber congenital amaurosis 7			158
HP:0000496	HP:0000496	Abnormality of eye movement	0	CRX CL E G H	1406	2383	ORPHA:791	Retinitis pigmentosa			158
HP:0000496	HP:0000496	Abnormality of eye movement	0	CRYAA CL E G H	1409	2388	OMIM:604219	Cataract 9, multiple types			33
HP:0000496	HP:0000496	Abnormality of eye movement	0	CRYAA CL E G H	1409	2388	ORPHA:1377	Cataract-microcornea syndrome			33
HP:0000496	HP:0000496	Abnormality of eye movement	0	CRYBA4 CL E G H	1413	2396	ORPHA:1377	Cataract-microcornea syndrome			10
HP:0000496	HP:0000496	Abnormality of eye movement	0	CRYBB1 CL E G H	1414	2397	OMIM:611544	Cataract 17, multiple types			18
HP:0000496	HP:0000496	Abnormality of eye movement	0	CRYBB1 CL E G H	1414	2397	ORPHA:1377	Cataract-microcornea syndrome			18
HP:0000496	HP:0000496	Abnormality of eye movement	0	CRYBB2 CL E G H	1415	2398	ORPHA:1377	Cataract-microcornea syndrome			13
HP:0000496	HP:0000496	Abnormality of eye movement	0	CRYGC CL E G H	1420	2410	OMIM:604307	Cataract 2, multiple types			11
HP:0000496	HP:0000496	Abnormality of eye movement	0	CRYGC CL E G H	1420	2410	ORPHA:1377	Cataract-microcornea syndrome			11
HP:0000496	HP:0000496	Abnormality of eye movement	0	CRYGD CL E G H	1421	2411	ORPHA:1377	Cataract-microcornea syndrome			29
HP:0000496	HP:0000496	Abnormality of eye movement	0	CSF1R CL E G H	1436	2433	OMIM:618476	Brain abnormalities, neurodegeneration, and dysosteosclerosis			149
HP:0000496	HP:0000496	Abnormality of eye movement	0	CSPP1 CL E G H	79848	26193	ORPHA:475	Joubert syndrome			57
HP:0000496	HP:0000496	Abnormality of eye movement	0	CSPP1 CL E G H	79848	26193	OMIM:615636	Joubert syndrome 21			57
HP:0000496	HP:0000496	Abnormality of eye movement	0	CSPP1 CL E G H	79848	26193	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy			57
HP:0000496	HP:0000496	Abnormality of eye movement	0	CTBP1 CL E G H	1487	2494	OMIM:194190	Wolf-Hirschhorn syndrome			2
HP:0000496	HP:0000496	Abnormality of eye movement	0	CTBP1 CL E G H	1487	2494	ORPHA:280	Wolf-Hirschhorn syndrome			2
HP:0000496	HP:0000496	Abnormality of eye movement	0	CTCF CL E G H	10664	13723	ORPHA:363611	CTCF-related neurodevelopmental disorder			20
HP:0000496	HP:0000496	Abnormality of eye movement	0	CTCF CL E G H	10664	13723	OMIM:615502	Mental retardation, autosomal dominant 21			20
HP:0000496	HP:0000496	Abnormality of eye movement	0	CTDP1 CL E G H	9150	2498	OMIM:604168	Congenital cataracts, facial dysmorphism, and neuropathy			17
HP:0000496	HP:0000496	Abnormality of eye movement	0	CTDP1 CL E G H	9150	2498	ORPHA:48431	Congenital cataracts-facial dysmorphism-neuropathy syndrome			17
HP:0000496	HP:0000496	Abnormality of eye movement	0	CTNNB1 CL E G H	1499	2514	OMIM:617572	Exudative vitreoretinopathy 7			88
HP:0000496	HP:0000496	Abnormality of eye movement	0	CTNNB1 CL E G H	1499	2514	OMIM:615075	Neurodevelopmental disorder with spastic diplegia and visual defects			88
HP:0000496	HP:0000496	Abnormality of eye movement	0	CTNNB1 CL E G H	1499	2514	ORPHA:404473	Severe intellectual disability-progressive spastic diplegia syndrome			88
HP:0000496	HP:0000496	Abnormality of eye movement	0	CTSK CL E G H	1513	2536	ORPHA:763	Pycnodysostosis			39
HP:0000496	HP:0000496	Abnormality of eye movement	0	CWF19L1 CL E G H	55280	25613	ORPHA:453521	Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency			9
HP:0000496	HP:0000496	Abnormality of eye movement	0	CWF19L1 CL E G H	55280	25613	OMIM:616127	Spinocerebellar ataxia, autosomal recessive 17			9
HP:0000496	HP:0000496	Abnormality of eye movement	0	CYB5A CL E G H	1528	2570	ORPHA:621	Hereditary methemoglobinemia			2
HP:0000496	HP:0000496	Abnormality of eye movement	0	CYB5R3 CL E G H	1727	2873	ORPHA:621	Hereditary methemoglobinemia			24
HP:0000496	HP:0000496	Abnormality of eye movement	0	CYB5R3 CL E G H	1727	2873	OMIM:250800	Methemoglobinemia due to deficiency of methemoglobin reductase			24
HP:0000496	HP:0000496	Abnormality of eye movement	0	CYFIP2 CL E G H	26999	13760	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			1
HP:0000496	HP:0000496	Abnormality of eye movement	0	CYP1B1 CL E G H	1545	2597	ORPHA:708	Peters anomaly			101
HP:0000496	HP:0000496	Abnormality of eye movement	0	CYP27A1 CL E G H	1593	2605	ORPHA:909	Cerebrotendinous xanthomatosis			114
HP:0000496	HP:0000496	Abnormality of eye movement	0	CYP7B1 CL E G H	9420	2652	ORPHA:100986	Autosomal recessive spastic paraplegia type 5A			57
HP:0000496	HP:0000496	Abnormality of eye movement	0	CYP7B1 CL E G H	9420	2652	OMIM:270800	Spastic paraplegia 5A, autosomal recessive			57
HP:0000496	HP:0000496	Abnormality of eye movement	0	CYTB CL E G H	4519	7427	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0000496	HP:0000496	Abnormality of eye movement	0	DAB1 CL E G H	1600	2661	OMIM:615945	Spinocerebellar ataxia 37			4
HP:0000496	HP:0000496	Abnormality of eye movement	0	DAB1 CL E G H	1600	2661	ORPHA:363710	Spinocerebellar ataxia type 37			4
HP:0000496	HP:0000496	Abnormality of eye movement	0	DACT1 CL E G H	51339	17748	ORPHA:857	Townes-Brocks syndrome			2
HP:0000496	HP:0000496	Abnormality of eye movement	0	DALRD3 CL E G H	55152	25536	ORPHA:442835	Non-specific early-onset epileptic encephalopathy
HP:0000496	HP:0000496	Abnormality of eye movement	0	DARS1 CL E G H	1615	2678	OMIM:615281	HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY; HBSL
HP:0000496	HP:0000496	Abnormality of eye movement	0	DARS2 CL E G H	55157	25538	ORPHA:137898	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome			60
HP:0000496	HP:0000496	Abnormality of eye movement	0	DARS2 CL E G H	55157	25538	OMIM:611105	Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation			60
HP:0000496	HP:0000496	Abnormality of eye movement	0	DCC CL E G H	1630	2701	OMIM:617542	GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS, 2; HGPPS2			36
HP:0000496	HP:0000496	Abnormality of eye movement	0	DCC CL E G H	1630	2701	ORPHA:2744	Horizontal gaze palsy with progressive scoliosis			36
HP:0000496	HP:0000496	Abnormality of eye movement	0	DCC CL E G H	1630	2701	ORPHA:478	Kallmann syndrome			36
HP:0000496	HP:0000496	Abnormality of eye movement	0	DCN CL E G H	1634	2705	OMIM:610048	Corneal dystrophy, congenital stromal			31
HP:0000496	HP:0000496	Abnormality of eye movement	0	DCT CL E G H	1638	2709	OMIM:619165	OCULOCUTANEOUS ALBINISM, TYPE VIII; OCA8
HP:0000496	HP:0000496	Abnormality of eye movement	0	DCTN1 CL E G H	1639	2711	OMIM:168605	Perry syndrome			86
HP:0000496	HP:0000496	Abnormality of eye movement	0	DCX CL E G H	1641	2714	OMIM:300067	Lissencephaly, X-linked, 1			145
HP:0000496	HP:0000496	Abnormality of eye movement	0	DDB1 CL E G H	1642	2717	OMIM:619426	WHITE-KERNOHAN SYNDROME; WHIKERS
HP:0000496	HP:0000496	Abnormality of eye movement	0	DDB2 CL E G H	1643	2718	ORPHA:910	Xeroderma pigmentosum			30
HP:0000496	HP:0000496	Abnormality of eye movement	0	DDHD2 CL E G H	23259	29106	ORPHA:320380	Autosomal recessive spastic paraplegia type 54			29
HP:0000496	HP:0000496	Abnormality of eye movement	0	DDHD2 CL E G H	23259	29106	OMIM:615033	Spastic paraplegia 54, autosomal recessive			29
HP:0000496	HP:0000496	Abnormality of eye movement	0	DDOST CL E G H	1650	2728	OMIM:614507	Congenital disorder of glycosylation, type IR			62
HP:0000496	HP:0000496	Abnormality of eye movement	0	DDOST CL E G H	1650	2728	ORPHA:300536	DDOST-CDG			62
HP:0000496	HP:0000496	Abnormality of eye movement	0	DDX3X CL E G H	1654	2745	OMIM:300958	MENTAL RETARDATION, X-LINKED 102; MRX102			57
HP:0000496	HP:0000496	Abnormality of eye movement	0	DDX59 CL E G H	83479	25360	OMIM:174300	Orofaciodigital syndrome V			2
HP:0000496	HP:0000496	Abnormality of eye movement	0	DDX6 CL E G H	1656	2747	OMIM:618653	INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES; IDDILF
HP:0000496	HP:0000496	Abnormality of eye movement	0	DEAF1 CL E G H	10522	14677	ORPHA:819	Smith-Magenis syndrome			33
HP:0000496	HP:0000496	Abnormality of eye movement	0	DEGS1 CL E G H	8560	13709	OMIM:618404	Leukodystrophy, hypomyelinating, 18
HP:0000496	HP:0000496	Abnormality of eye movement	0	DGUOK CL E G H	1716	2858	ORPHA:329314	Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency			57
HP:0000496	HP:0000496	Abnormality of eye movement	0	DGUOK CL E G H	1716	2858	OMIM:251880	Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)			57
HP:0000496	HP:0000496	Abnormality of eye movement	0	DGUOK CL E G H	1716	2858	OMIM:617070	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4			57
HP:0000496	HP:0000496	Abnormality of eye movement	0	DHCR24 CL E G H	1718	2859	OMIM:602398	DESMOSTEROLOSIS			72
HP:0000496	HP:0000496	Abnormality of eye movement	0	DHCR24 CL E G H	1718	2859	ORPHA:35107	Desmosterolosis			72
HP:0000496	HP:0000496	Abnormality of eye movement	0	DHCR7 CL E G H	1717	2860	OMIM:270400	Smith-Lemli-Opitz syndrome			159
HP:0000496	HP:0000496	Abnormality of eye movement	0	DHCR7 CL E G H	1717	2860	ORPHA:818	Smith-Lemli-Opitz syndrome			159
HP:0000496	HP:0000496	Abnormality of eye movement	0	DHDDS CL E G H	79947	20603	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			47
HP:0000496	HP:0000496	Abnormality of eye movement	0	DHDDS CL E G H	79947	20603	ORPHA:791	Retinitis pigmentosa			47
HP:0000496	HP:0000496	Abnormality of eye movement	0	DHODH CL E G H	1723	2867	ORPHA:246	Postaxial acrofacial dysostosis			59
HP:0000496	HP:0000496	Abnormality of eye movement	0	DHX16 CL E G H	8449	2739	OMIM:618733	NEUROMUSCULAR OCULOAUDITORY SYNDROME; NMOAS
HP:0000496	HP:0000496	Abnormality of eye movement	0	DHX30 CL E G H	22907	16716	OMIM:617804	Neurodevelopmental disorder with severe motor impairment and absent language			4
HP:0000496	HP:0000496	Abnormality of eye movement	0	DHX37 CL E G H	57647	17210	OMIM:618731	NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES AND WITH OR WITHOUT VERTEBRAL OR CARDIAC ANOMALIES; NEDBAVC			2
HP:0000496	HP:0000496	Abnormality of eye movement	0	DHX38 CL E G H	9785	17211	ORPHA:791	Retinitis pigmentosa			1
HP:0000496	HP:0000496	Abnormality of eye movement	0	DISP1 CL E G H	84976	19711	ORPHA:280200	Microform holoprosencephaly			22
HP:0000496	HP:0000496	Abnormality of eye movement	0	DKC1 CL E G H	1736	2890	OMIM:305000	Dyskeratosis congenita, X-linked			65
HP:0000496	HP:0000496	Abnormality of eye movement	0	DKK1 CL E G H	22943	2891	ORPHA:268882	Arnold-Chiari malformation type I
HP:0000496	HP:0000496	Abnormality of eye movement	0	DLAT CL E G H	1737	2896	ORPHA:79244	Pyruvate dehydrogenase E2 deficiency	HP:0040282 - Frequent		82
HP:0000496	HP:0000496	Abnormality of eye movement	0	DLAT CL E G H	1737	2896	OMIM:245348	Pyruvate dehydrogenase E2 deficiency			82
HP:0000496	HP:0000496	Abnormality of eye movement	0	DLG3 CL E G H	1741	2902	OMIM:300850	MENTAL RETARDATION, X-LINKED 90; MRX90			30
HP:0000496	HP:0000496	Abnormality of eye movement	0	DLG4 CL E G H	1742	2903	OMIM:618793	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 62; MRD62			2
HP:0000496	HP:0000496	Abnormality of eye movement	0	DLK1 CL E G H	8788	2907	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion			1
HP:0000496	HP:0000496	Abnormality of eye movement	0	DLL1 CL E G H	28514	2908	ORPHA:280200	Microform holoprosencephaly			3
HP:0000496	HP:0000496	Abnormality of eye movement	0	DLL4 CL E G H	54567	2910	ORPHA:974	Adams-Oliver syndrome			9
HP:0000496	HP:0000496	Abnormality of eye movement	0	DMXL2 CL E G H	23312	2938	ORPHA:1934	Early infantile epileptic encephalopathy			3
HP:0000496	HP:0000496	Abnormality of eye movement	0	DNA2 CL E G H	1763	2939	ORPHA:352470	DNA2-related mitochondrial DNA deletion syndrome			41
HP:0000496	HP:0000496	Abnormality of eye movement	0	DNA2 CL E G H	1763	2939	OMIM:615156	Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal dominant, 6			41
HP:0000496	HP:0000496	Abnormality of eye movement	0	DNAJC12 CL E G H	56521	28908	OMIM:617384	Hyperphenylalaninemia, MILD, non-bh4-deficient			3
HP:0000496	HP:0000496	Abnormality of eye movement	0	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome
HP:0000496	HP:0000496	Abnormality of eye movement	0	DNAJC6 CL E G H	9829	15469	OMIM:615528	Parkinson disease 19a, juvenile-onset			6
HP:0000496	HP:0000496	Abnormality of eye movement	0	DNM1 CL E G H	1759	2972	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			72
HP:0000496	HP:0000496	Abnormality of eye movement	0	DNM1L CL E G H	10059	2973	ORPHA:98673	Autosomal dominant optic atrophy, classic form			94
HP:0000496	HP:0000496	Abnormality of eye movement	0	DNM1L CL E G H	10059	2973	ORPHA:330050	DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect			94
HP:0000496	HP:0000496	Abnormality of eye movement	0	DNM1L CL E G H	10059	2973	OMIM:614388	Encephalopathy due to defective mitochondrial and peroxisomal fission 1			94
HP:0000496	HP:0000496	Abnormality of eye movement	0	DNM2 CL E G H	1785	2974	ORPHA:169189	Autosomal dominant centronuclear myopathy			167
HP:0000496	HP:0000496	Abnormality of eye movement	0	DNM2 CL E G H	1785	2974	OMIM:160150	Myopathy, centronuclear, autosomal dominant			167
HP:0000496	HP:0000496	Abnormality of eye movement	0	DNMBP CL E G H	23268	30373	OMIM:618415	Cataract 48
HP:0000496	HP:0000496	Abnormality of eye movement	0	DNMT1 CL E G H	1786	2976	ORPHA:314404	Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome			145
HP:0000496	HP:0000496	Abnormality of eye movement	0	DNMT3A CL E G H	1788	2978	OMIM:618724	HEYN-SPROUL-JACKSON SYNDROME; HESJAS			44
HP:0000496	HP:0000496	Abnormality of eye movement	0	DOCK6 CL E G H	57572	19189	ORPHA:974	Adams-Oliver syndrome			18
HP:0000496	HP:0000496	Abnormality of eye movement	0	DOCK6 CL E G H	57572	19189	OMIM:614219	Adams-Oliver syndrome 2			18
HP:0000496	HP:0000496	Abnormality of eye movement	0	DOHH CL E G H	83475	28662	OMIM:620066
HP:0000496	HP:0000496	Abnormality of eye movement	0	DOK7 CL E G H	285489	26594	OMIM:254300	Myasthenia, limb-girdle, familial			91
HP:0000496	HP:0000496	Abnormality of eye movement	0	DOK7 CL E G H	285489	26594	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent		91
HP:0000496	HP:0000496	Abnormality of eye movement	0	DOLK CL E G H	22845	23406	OMIM:610768	Congenital disorder of glycosylation, type Im			55
HP:0000496	HP:0000496	Abnormality of eye movement	0	DOLK CL E G H	22845	23406	ORPHA:91131	DK1-CDG			55
HP:0000496	HP:0000496	Abnormality of eye movement	0	DPAGT1 CL E G H	1798	2995	OMIM:608093	Congenital disorder of glycosylation, type Ij			38
HP:0000496	HP:0000496	Abnormality of eye movement	0	DPAGT1 CL E G H	1798	2995	ORPHA:86309	DPAGT1-CDG			38
HP:0000496	HP:0000496	Abnormality of eye movement	0	DPF2 CL E G H	5977	9964	ORPHA:1465	Coffin-Siris syndrome
HP:0000496	HP:0000496	Abnormality of eye movement	0	DPF2 CL E G H	5977	9964	OMIM:618027	Coffin-Siris syndrome 7
HP:0000496	HP:0000496	Abnormality of eye movement	0	DPM1 CL E G H	8813	3005	OMIM:608799	Congenital disorder of glycosylation, type IE			27
HP:0000496	HP:0000496	Abnormality of eye movement	0	DPM1 CL E G H	8813	3005	ORPHA:79322	DPM1-CDG			27
HP:0000496	HP:0000496	Abnormality of eye movement	0	DPM2 CL E G H	8818	3006	OMIM:615042	Congenital disorder of glycosylation, type Iu			26
HP:0000496	HP:0000496	Abnormality of eye movement	0	DPM2 CL E G H	8818	3006	ORPHA:329178	Congenital muscular dystrophy with intellectual disability and severe epilepsy			26
HP:0000496	HP:0000496	Abnormality of eye movement	0	DPP6 CL E G H	1804	3010	ORPHA:2514	Autosomal dominant primary microcephaly			18
HP:0000496	HP:0000496	Abnormality of eye movement	0	DPYD CL E G H	1806	3012	OMIM:274270	Dihydropyrimidine dehydrogenase deficiency			144
HP:0000496	HP:0000496	Abnormality of eye movement	0	DPYD CL E G H	1806	3012	ORPHA:1675	Dihydropyrimidine dehydrogenase deficiency			144
HP:0000496	HP:0000496	Abnormality of eye movement	0	DPYSL5 CL E G H	56896	20637	OMIM:619435	RITSCHER-SCHINZEL SYNDROME 4; RTSC4
HP:0000496	HP:0000496	Abnormality of eye movement	0	DSE CL E G H	29940	21144	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome			13
HP:0000496	HP:0000496	Abnormality of eye movement	0	DTNBP1 CL E G H	84062	17328	OMIM:614076	Hermansky-Pudlak syndrome 7			46
HP:0000496	HP:0000496	Abnormality of eye movement	0	DUSP6 CL E G H	1848	3072	ORPHA:478	Kallmann syndrome			4
HP:0000496	HP:0000496	Abnormality of eye movement	0	DVL1 CL E G H	1855	3084	ORPHA:3107	Autosomal dominant Robinow syndrome			14
HP:0000496	HP:0000496	Abnormality of eye movement	0	DVL3 CL E G H	1857	3087	ORPHA:3107	Autosomal dominant Robinow syndrome			5
HP:0000496	HP:0000496	Abnormality of eye movement	0	DYNC2LI1 CL E G H	51626	24595	ORPHA:289	Ellis Van Creveld syndrome			7
HP:0000496	HP:0000496	Abnormality of eye movement	0	DYRK1A CL E G H	1859	3091	ORPHA:268261	DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion			134
HP:0000496	HP:0000496	Abnormality of eye movement	0	DYRK1A CL E G H	1859	3091	ORPHA:464311	Intellectual disability syndrome due to a DYRK1A point mutation			134
HP:0000496	HP:0000496	Abnormality of eye movement	0	EARS2 CL E G H	124454	29419	OMIM:614924	Combined oxidative phosphorylation deficiency 12			80
HP:0000496	HP:0000496	Abnormality of eye movement	0	EBF3 CL E G H	253738	19087	OMIM:617330	HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS			25
HP:0000496	HP:0000496	Abnormality of eye movement	0	EBP CL E G H	10682	3133	OMIM:302960	Chondrodysplasia punctata 2, X-linked dominant			51
HP:0000496	HP:0000496	Abnormality of eye movement	0	ECHS1 CL E G H	1892	3151	ORPHA:255241	Leigh syndrome with leukodystrophy			33
HP:0000496	HP:0000496	Abnormality of eye movement	0	ECHS1 CL E G H	1892	3151	OMIM:616277	Mitochondrial short-chain enoyl-coa hydratase 1 deficiency			33
HP:0000496	HP:0000496	Abnormality of eye movement	0	EDEM3 CL E G H	80267	16787	OMIM:619493	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 2v; CDG2V
HP:0000496	HP:0000496	Abnormality of eye movement	0	EDNRB CL E G H	1910	3180	OMIM:277580	Waardenburg-Shah syndrome			55
HP:0000496	HP:0000496	Abnormality of eye movement	0	EEF1A2 CL E G H	1917	3192	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			60
HP:0000496	HP:0000496	Abnormality of eye movement	0	EEF2 CL E G H	1938	3214	OMIM:609306	Spinocerebellar ataxia 26			4
HP:0000496	HP:0000496	Abnormality of eye movement	0	EEF2 CL E G H	1938	3214	ORPHA:101112	Spinocerebellar ataxia type 26			4
HP:0000496	HP:0000496	Abnormality of eye movement	0	EFHC1 CL E G H	114327	16406	ORPHA:1941	Juvenile absence epilepsy	HP:0040282 - Frequent		153
HP:0000496	HP:0000496	Abnormality of eye movement	0	EFHC1 CL E G H	114327	16406	ORPHA:307	Juvenile myoclonic epilepsy	HP:0040282 - Frequent		153
HP:0000496	HP:0000496	Abnormality of eye movement	0	EFNB1 CL E G H	1947	3226	OMIM:304110	Craniofrontonasal syndrome			27
HP:0000496	HP:0000496	Abnormality of eye movement	0	EGR2 CL E G H	1959	3239	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas			58
HP:0000496	HP:0000496	Abnormality of eye movement	0	EIF2AK2 CL E G H	5610	9437	OMIM:619687	DYSTONIA 33; DYT33
HP:0000496	HP:0000496	Abnormality of eye movement	0	EIF2AK3 CL E G H	9451	3255	ORPHA:1667	Wolcott-Rallison syndrome			65
HP:0000496	HP:0000496	Abnormality of eye movement	0	EIF2S3 CL E G H	1968	3267	ORPHA:85282	MEHMO syndrome			8
HP:0000496	HP:0000496	Abnormality of eye movement	0	EIF2S3 CL E G H	1968	3267	OMIM:300148	Mehmo syndrome			8
HP:0000496	HP:0000496	Abnormality of eye movement	0	EIF3F CL E G H	8665	3275	OMIM:618295	Intellectual developmental disorder, autosomal recessive 67
HP:0000496	HP:0000496	Abnormality of eye movement	0	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome
HP:0000496	HP:0000496	Abnormality of eye movement	0	ELN CL E G H	2006	3327	ORPHA:90348	Autosomal dominant cutis laxa			172
HP:0000496	HP:0000496	Abnormality of eye movement	0	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome			172
HP:0000496	HP:0000496	Abnormality of eye movement	0	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome			172
HP:0000496	HP:0000496	Abnormality of eye movement	0	ELOVL1 CL E G H	64834	14418	OMIM:618527	Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features
HP:0000496	HP:0000496	Abnormality of eye movement	0	ELOVL4 CL E G H	6785	14415	OMIM:133190	Spinocerebellar ataxia 34			62
HP:0000496	HP:0000496	Abnormality of eye movement	0	ELOVL4 CL E G H	6785	14415	ORPHA:1955	Spinocerebellar ataxia type 34			62
HP:0000496	HP:0000496	Abnormality of eye movement	0	ELOVL4 CL E G H	6785	14415	ORPHA:827	Stargardt disease			62
HP:0000496	HP:0000496	Abnormality of eye movement	0	ELOVL5 CL E G H	60481	21308	OMIM:615957	Spinocerebellar ataxia 38			4
HP:0000496	HP:0000496	Abnormality of eye movement	0	ELOVL5 CL E G H	60481	21308	ORPHA:423296	Spinocerebellar ataxia type 38			4
HP:0000496	HP:0000496	Abnormality of eye movement	0	EMC1 CL E G H	23065	28957	OMIM:616875	Cerebellar atrophy, visual impairment, and psychomotor retardation			5
HP:0000496	HP:0000496	Abnormality of eye movement	0	EMC1 CL E G H	23065	28957	ORPHA:480898	Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome			5
HP:0000496	HP:0000496	Abnormality of eye movement	0	EMC10 CL E G H	284361	27609	OMIM:619264	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND VARIABLE SEIZURES; NEDDFAS
HP:0000496	HP:0000496	Abnormality of eye movement	0	ENG CL E G H	2022	3349	ORPHA:231160	Familial cerebral saccular aneurysm			186
HP:0000496	HP:0000496	Abnormality of eye movement	0	EOGT CL E G H	285203	28526	ORPHA:974	Adams-Oliver syndrome			4
HP:0000496	HP:0000496	Abnormality of eye movement	0	EP300 CL E G H	2033	3373	OMIM:618333	MENKE-HENNEKAM SYNDROME 2; MKHK2			250
HP:0000496	HP:0000496	Abnormality of eye movement	0	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1			250
HP:0000496	HP:0000496	Abnormality of eye movement	0	EP300 CL E G H	2033	3373	OMIM:613684	Rubinstein-Taybi syndrome 2			250
HP:0000496	HP:0000496	Abnormality of eye movement	0	EP300 CL E G H	2033	3373	ORPHA:353284	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency			250
HP:0000496	HP:0000496	Abnormality of eye movement	0	EPG5 CL E G H	57724	29331	ORPHA:1493	Vici syndrome			40
HP:0000496	HP:0000496	Abnormality of eye movement	0	EPG5 CL E G H	57724	29331	OMIM:242840	Vici syndrome			40
HP:0000496	HP:0000496	Abnormality of eye movement	0	EPRS1 CL E G H	2058	3418	OMIM:617951	Leukodystrophy, hypomyelinating, 15
HP:0000496	HP:0000496	Abnormality of eye movement	0	ERCC1 CL E G H	2067	3433	OMIM:610758	Cerebrooculofacioskeletal syndrome 4			20
HP:0000496	HP:0000496	Abnormality of eye movement	0	ERCC1 CL E G H	2067	3433	ORPHA:90322	Cockayne syndrome type 2			20
HP:0000496	HP:0000496	Abnormality of eye movement	0	ERCC2 CL E G H	2068	3434	ORPHA:33364	Trichothiodystrophy			106
HP:0000496	HP:0000496	Abnormality of eye movement	0	ERCC2 CL E G H	2068	3434	OMIM:601675	Trichothiodystrophy 1, photosensitive			106
HP:0000496	HP:0000496	Abnormality of eye movement	0	ERCC2 CL E G H	2068	3434	ORPHA:910	Xeroderma pigmentosum			106
HP:0000496	HP:0000496	Abnormality of eye movement	0	ERCC2 CL E G H	2068	3434	ORPHA:220295	Xeroderma pigmentosum-Cockayne syndrome complex			106
HP:0000496	HP:0000496	Abnormality of eye movement	0	ERCC3 CL E G H	2071	3435	ORPHA:33364	Trichothiodystrophy			54
HP:0000496	HP:0000496	Abnormality of eye movement	0	ERCC3 CL E G H	2071	3435	ORPHA:910	Xeroderma pigmentosum			54
HP:0000496	HP:0000496	Abnormality of eye movement	0	ERCC3 CL E G H	2071	3435	ORPHA:220295	Xeroderma pigmentosum-Cockayne syndrome complex			54
HP:0000496	HP:0000496	Abnormality of eye movement	0	ERCC4 CL E G H	2072	3436	ORPHA:90321	Cockayne syndrome type 1			158
HP:0000496	HP:0000496	Abnormality of eye movement	0	ERCC4 CL E G H	2072	3436	ORPHA:84	Fanconi anemia			158
HP:0000496	HP:0000496	Abnormality of eye movement	0	ERCC4 CL E G H	2072	3436	ORPHA:910	Xeroderma pigmentosum			158
HP:0000496	HP:0000496	Abnormality of eye movement	0	ERCC4 CL E G H	2072	3436	OMIM:278760	Xeroderma pigmentosum, complementation group F			158
HP:0000496	HP:0000496	Abnormality of eye movement	0	ERCC4 CL E G H	2072	3436	ORPHA:220295	Xeroderma pigmentosum-Cockayne syndrome complex			158
HP:0000496	HP:0000496	Abnormality of eye movement	0	ERCC5 CL E G H	2073	3437	ORPHA:910	Xeroderma pigmentosum			83
HP:0000496	HP:0000496	Abnormality of eye movement	0	ERCC5 CL E G H	2073	3437	ORPHA:220295	Xeroderma pigmentosum-Cockayne syndrome complex			83
HP:0000496	HP:0000496	Abnormality of eye movement	0	ERCC6 CL E G H	2074	3438	OMIM:214150	Cerebrooculofacioskeletal syndrome 1			199
HP:0000496	HP:0000496	Abnormality of eye movement	0	ERCC6 CL E G H	2074	3438	ORPHA:90321	Cockayne syndrome type 1			199
HP:0000496	HP:0000496	Abnormality of eye movement	0	ERCC6 CL E G H	2074	3438	ORPHA:90322	Cockayne syndrome type 2			199
HP:0000496	HP:0000496	Abnormality of eye movement	0	ERCC6 CL E G H	2074	3438	ORPHA:90324	Cockayne syndrome type 3			199
HP:0000496	HP:0000496	Abnormality of eye movement	0	ERCC6 CL E G H	2074	3438	OMIM:133540	Cockayne syndrome, type B			199
HP:0000496	HP:0000496	Abnormality of eye movement	0	ERCC6 CL E G H	2074	3438	OMIM:278800	De Sanctis-Cacchione syndrome			199
HP:0000496	HP:0000496	Abnormality of eye movement	0	ERCC8 CL E G H	1161	3439	OMIM:216400	Cockayne syndrome A			55
HP:0000496	HP:0000496	Abnormality of eye movement	0	ERCC8 CL E G H	1161	3439	ORPHA:90321	Cockayne syndrome type 1			55
HP:0000496	HP:0000496	Abnormality of eye movement	0	ERCC8 CL E G H	1161	3439	ORPHA:90322	Cockayne syndrome type 2			55
HP:0000496	HP:0000496	Abnormality of eye movement	0	ERCC8 CL E G H	1161	3439	ORPHA:90324	Cockayne syndrome type 3			55
HP:0000496	HP:0000496	Abnormality of eye movement	0	ERF CL E G H	2077	3444	ORPHA:207	Crouzon disease			12
HP:0000496	HP:0000496	Abnormality of eye movement	0	ERLIN2 CL E G H	11160	1356	ORPHA:209951	Autosomal recessive spastic paraplegia type 18			18
HP:0000496	HP:0000496	Abnormality of eye movement	0	ERLIN2 CL E G H	11160	1356	OMIM:611225	Spastic paraplegia 18, autosomal recessive			18
HP:0000496	HP:0000496	Abnormality of eye movement	0	ERMARD CL E G H	55780	21056	ORPHA:75857	6q terminal deletion syndrome			36
HP:0000496	HP:0000496	Abnormality of eye movement	0	ERMARD CL E G H	55780	21056	OMIM:615544	Periventricular nodular heterotopia 6			36
HP:0000496	HP:0000496	Abnormality of eye movement	0	ESCO2 CL E G H	157570	27230	ORPHA:3103	Roberts syndrome			92
HP:0000496	HP:0000496	Abnormality of eye movement	0	EVC CL E G H	2121	3497	ORPHA:289	Ellis Van Creveld syndrome			209
HP:0000496	HP:0000496	Abnormality of eye movement	0	EVC2 CL E G H	132884	19747	ORPHA:289	Ellis Van Creveld syndrome			137
HP:0000496	HP:0000496	Abnormality of eye movement	0	EXOC8 CL E G H	149371	24659	OMIM:619076	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND BRAIN ATROPHY; NEDMISB			1
HP:0000496	HP:0000496	Abnormality of eye movement	0	EXOSC1 CL E G H	51013	17286	OMIM:619304	PONTOCEREBELLAR HYPOPLASIA, TYPE 1F; PCH1F
HP:0000496	HP:0000496	Abnormality of eye movement	0	EXOSC2 CL E G H	23404	17097	OMIM:617763	Short stature, hearing loss, retinitis pigmentosa, and distinctive facies
HP:0000496	HP:0000496	Abnormality of eye movement	0	EXOSC3 CL E G H	51010	17944	ORPHA:2254	Pontocerebellar hypoplasia type 1			38
HP:0000496	HP:0000496	Abnormality of eye movement	0	EXOSC3 CL E G H	51010	17944	OMIM:614678	Pontocerebellar hypoplasia, type 1B			38
HP:0000496	HP:0000496	Abnormality of eye movement	0	EXOSC5 CL E G H	56915	24662	OMIM:619576	CEREBELLAR ATAXIA, BRAIN ABNORMALITIES, AND CARDIAC CONDUCTION DEFECTS; CABAC
HP:0000496	HP:0000496	Abnormality of eye movement	0	EXOSC8 CL E G H	11340	17035	ORPHA:2254	Pontocerebellar hypoplasia type 1			4
HP:0000496	HP:0000496	Abnormality of eye movement	0	EXOSC9 CL E G H	5393	9137	ORPHA:2254	Pontocerebellar hypoplasia type 1
HP:0000496	HP:0000496	Abnormality of eye movement	0	EXOSC9 CL E G H	5393	9137	OMIM:618065	Pontocerebellar hypoplasia, type 1D
HP:0000496	HP:0000496	Abnormality of eye movement	0	EXT2 CL E G H	2132	3513	ORPHA:52022	Potocki-Shaffer syndrome			102
HP:0000496	HP:0000496	Abnormality of eye movement	0	EXT2 CL E G H	2132	3513	OMIM:616682	Seizures, scoliosis, and macrocephaly/microcephaly syndrome			102
HP:0000496	HP:0000496	Abnormality of eye movement	0	EXTL3 CL E G H	2137	3518	ORPHA:508533	Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome			3
HP:0000496	HP:0000496	Abnormality of eye movement	0	EYS CL E G H	346007	21555	ORPHA:791	Retinitis pigmentosa			209
HP:0000496	HP:0000496	Abnormality of eye movement	0	EZH2 CL E G H	2146	3527	OMIM:277590	Weaver syndrome			81
HP:0000496	HP:0000496	Abnormality of eye movement	0	FA2H CL E G H	79152	21197	ORPHA:171629	Autosomal recessive spastic paraplegia type 35			76
HP:0000496	HP:0000496	Abnormality of eye movement	0	FA2H CL E G H	79152	21197	ORPHA:329308	Fatty acid hydroxylase-associated neurodegeneration			76
HP:0000496	HP:0000496	Abnormality of eye movement	0	FA2H CL E G H	79152	21197	OMIM:612319	Spastic paraplegia 35, autosomal recessive			76
HP:0000496	HP:0000496	Abnormality of eye movement	0	FAM149B1 CL E G H	317662	29162	OMIM:618763	JOUBERT SYNDROME 36; JBTS36
HP:0000496	HP:0000496	Abnormality of eye movement	0	FAM149B1 CL E G H	317662	29162	ORPHA:2754	Orofaciodigital syndrome type 6
HP:0000496	HP:0000496	Abnormality of eye movement	0	FAM161A CL E G H	84140	25808	ORPHA:791	Retinitis pigmentosa			56
HP:0000496	HP:0000496	Abnormality of eye movement	0	FAM50A CL E G H	9130	18786	OMIM:300261	Mental retardation syndrome, X-linked, Armfield type
HP:0000496	HP:0000496	Abnormality of eye movement	0	FANCA CL E G H	2175	3582	OMIM:227650	Fanconi anemia			340
HP:0000496	HP:0000496	Abnormality of eye movement	0	FANCA CL E G H	2175	3582	ORPHA:84	Fanconi anemia			340
HP:0000496	HP:0000496	Abnormality of eye movement	0	FANCB CL E G H	2187	3583	ORPHA:84	Fanconi anemia			58
HP:0000496	HP:0000496	Abnormality of eye movement	0	FANCC CL E G H	2176	3584	ORPHA:84	Fanconi anemia			410
HP:0000496	HP:0000496	Abnormality of eye movement	0	FANCC CL E G H	2176	3584	OMIM:227645	Fanconi anemia, complementation group C			410
HP:0000496	HP:0000496	Abnormality of eye movement	0	FANCD2 CL E G H	2177	3585	ORPHA:84	Fanconi anemia			147
HP:0000496	HP:0000496	Abnormality of eye movement	0	FANCD2 CL E G H	2177	3585	OMIM:227646	Fanconi anemia, complementation group D2			147
HP:0000496	HP:0000496	Abnormality of eye movement	0	FANCE CL E G H	2178	3586	ORPHA:84	Fanconi anemia			73
HP:0000496	HP:0000496	Abnormality of eye movement	0	FANCE CL E G H	2178	3586	OMIM:600901	Fanconi anemia, complementation group E			73
HP:0000496	HP:0000496	Abnormality of eye movement	0	FANCF CL E G H	2188	3587	ORPHA:84	Fanconi anemia			87
HP:0000496	HP:0000496	Abnormality of eye movement	0	FANCG CL E G H	2189	3588	ORPHA:84	Fanconi anemia			73
HP:0000496	HP:0000496	Abnormality of eye movement	0	FANCI CL E G H	55215	25568	ORPHA:84	Fanconi anemia			157
HP:0000496	HP:0000496	Abnormality of eye movement	0	FANCL CL E G H	55120	20748	ORPHA:84	Fanconi anemia			53
HP:0000496	HP:0000496	Abnormality of eye movement	0	FANCM CL E G H	57697	23168	ORPHA:84	Fanconi anemia			107
HP:0000496	HP:0000496	Abnormality of eye movement	0	FAR1 CL E G H	84188	26222	ORPHA:447753	Autosomal dominant spastic paraplegia type 9A			7
HP:0000496	HP:0000496	Abnormality of eye movement	0	FARS2 CL E G H	10667	21062	ORPHA:466722	Autosomal recessive spastic paraplegia type 77			36
HP:0000496	HP:0000496	Abnormality of eye movement	0	FASTKD2 CL E G H	22868	29160	OMIM:618855	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 44; COXPD44			122
HP:0000496	HP:0000496	Abnormality of eye movement	0	FAT2 CL E G H	2196	3596	OMIM:617769	Spinocerebellar ataxia 45			2
HP:0000496	HP:0000496	Abnormality of eye movement	0	FBLN5 CL E G H	10516	3602	ORPHA:90348	Autosomal dominant cutis laxa			63
HP:0000496	HP:0000496	Abnormality of eye movement	0	FBN1 CL E G H	2200	3603	ORPHA:1885	Isolated ectopia lentis			1361
HP:0000496	HP:0000496	Abnormality of eye movement	0	FBN1 CL E G H	2200	3603	OMIM:154700	Marfan syndrome			1361
HP:0000496	HP:0000496	Abnormality of eye movement	0	FBN1 CL E G H	2200	3603	ORPHA:2462	Shprintzen-Goldberg syndrome			1361
HP:0000496	HP:0000496	Abnormality of eye movement	0	FBN1 CL E G H	2200	3603	ORPHA:2833	Stiff skin syndrome			1361
HP:0000496	HP:0000496	Abnormality of eye movement	0	FBXL3 CL E G H	26224	13599	OMIM:606220	Intellectual developmental disorder with short stature, facial anomalies, and speech defects
HP:0000496	HP:0000496	Abnormality of eye movement	0	FBXL4 CL E G H	26235	13601	OMIM:615471	Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)			384
HP:0000496	HP:0000496	Abnormality of eye movement	0	FBXO11 CL E G H	80204	13590	OMIM:618089	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities			7
HP:0000496	HP:0000496	Abnormality of eye movement	0	FBXO28 CL E G H	23219	29046	OMIM:619777	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100
HP:0000496	HP:0000496	Abnormality of eye movement	0	FBXO7 CL E G H	25793	13586	OMIM:260300	Parkinson disease 15, autosomal recessive early-onset			36
HP:0000496	HP:0000496	Abnormality of eye movement	0	FBXO7 CL E G H	25793	13586	ORPHA:171695	Parkinsonian-pyramidal syndrome			36
HP:0000496	HP:0000496	Abnormality of eye movement	0	FBXW11 CL E G H	23291	13607	OMIM:618914	NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME; NEDJED
HP:0000496	HP:0000496	Abnormality of eye movement	0	FBXW7 CL E G H	55294	16712	OMIM:620012				22
HP:0000496	HP:0000496	Abnormality of eye movement	0	FCSK CL E G H	197258	29500	OMIM:618324	Congenital disorder of glycosylation with defective fucosylation 2
HP:0000496	HP:0000496	Abnormality of eye movement	0	FDX2 CL E G H	112812	30546	OMIM:251900	Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy
HP:0000496	HP:0000496	Abnormality of eye movement	0	FDXR CL E G H	2232	3642	OMIM:617717	Auditory neuropathy and optic atrophy
HP:0000496	HP:0000496	Abnormality of eye movement	0	FDXR CL E G H	2232	3642	ORPHA:543470	Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome
HP:0000496	HP:0000496	Abnormality of eye movement	0	FEZF1 CL E G H	389549	22788	ORPHA:478	Kallmann syndrome			2
HP:0000496	HP:0000496	Abnormality of eye movement	0	FGD1 CL E G H	2245	3663	OMIM:305400	Aarskog-Scott syndrome			62
HP:0000496	HP:0000496	Abnormality of eye movement	0	FGD1 CL E G H	2245	3663	ORPHA:915	Aarskog-Scott syndrome			62
HP:0000496	HP:0000496	Abnormality of eye movement	0	FGF10 CL E G H	2255	3666	ORPHA:2363	Lacrimoauriculodentodigital syndrome			17
HP:0000496	HP:0000496	Abnormality of eye movement	0	FGF12 CL E G H	2257	3668	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			3
HP:0000496	HP:0000496	Abnormality of eye movement	0	FGF13 CL E G H	2258	3670	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			1
HP:0000496	HP:0000496	Abnormality of eye movement	0	FGF14 CL E G H	2259	3671	OMIM:193003	Nystagmus 4, congenital, autosomal dominant			47
HP:0000496	HP:0000496	Abnormality of eye movement	0	FGF14 CL E G H	2259	3671	ORPHA:98764	Spinocerebellar ataxia type 27			47
HP:0000496	HP:0000496	Abnormality of eye movement	0	FGF17 CL E G H	8822	3673	ORPHA:478	Kallmann syndrome			3
HP:0000496	HP:0000496	Abnormality of eye movement	0	FGF3 CL E G H	2248	3681	ORPHA:90024	Deafness with labyrinthine aplasia, microtia, and microdontia			18
HP:0000496	HP:0000496	Abnormality of eye movement	0	FGF8 CL E G H	2253	3686	ORPHA:478	Kallmann syndrome			17
HP:0000496	HP:0000496	Abnormality of eye movement	0	FGF8 CL E G H	2253	3686	ORPHA:280200	Microform holoprosencephaly			17
HP:0000496	HP:0000496	Abnormality of eye movement	0	FGFR1 CL E G H	2260	3688	ORPHA:478	Kallmann syndrome			172
HP:0000496	HP:0000496	Abnormality of eye movement	0	FGFR1 CL E G H	2260	3688	ORPHA:280200	Microform holoprosencephaly			172
HP:0000496	HP:0000496	Abnormality of eye movement	0	FGFR1 CL E G H	2260	3688	OMIM:101600	Pfeiffer syndrome			172
HP:0000496	HP:0000496	Abnormality of eye movement	0	FGFR1 CL E G H	2260	3688	ORPHA:3157	Septo-optic dysplasia spectrum			172
HP:0000496	HP:0000496	Abnormality of eye movement	0	FGFR2 CL E G H	2263	3689	OMIM:101200	Apert syndrome			175
HP:0000496	HP:0000496	Abnormality of eye movement	0	FGFR2 CL E G H	2263	3689	ORPHA:87	Apert syndrome			175
HP:0000496	HP:0000496	Abnormality of eye movement	0	FGFR2 CL E G H	2263	3689	ORPHA:207	Crouzon disease			175
HP:0000496	HP:0000496	Abnormality of eye movement	0	FGFR2 CL E G H	2263	3689	OMIM:123500	Crouzon syndrome			175
HP:0000496	HP:0000496	Abnormality of eye movement	0	FGFR2 CL E G H	2263	3689	ORPHA:1540	Jackson-Weiss syndrome			175
HP:0000496	HP:0000496	Abnormality of eye movement	0	FGFR2 CL E G H	2263	3689	ORPHA:2363	Lacrimoauriculodentodigital syndrome			175
HP:0000496	HP:0000496	Abnormality of eye movement	0	FGFR2 CL E G H	2263	3689	OMIM:101600	Pfeiffer syndrome			175
HP:0000496	HP:0000496	Abnormality of eye movement	0	FGFR2 CL E G H	2263	3689	ORPHA:794	Saethre-Chotzen syndrome			175
HP:0000496	HP:0000496	Abnormality of eye movement	0	FGFR2 CL E G H	2263	3689	OMIM:101400	Saethre-Chotzen syndrome			175
HP:0000496	HP:0000496	Abnormality of eye movement	0	FGFR3 CL E G H	2261	3690	OMIM:616482	Achondroplasia, severe, with developmental delay and acanthosis nigricans			145
HP:0000496	HP:0000496	Abnormality of eye movement	0	FGFR3 CL E G H	2261	3690	ORPHA:93262	Crouzon syndrome-acanthosis nigricans syndrome			145
HP:0000496	HP:0000496	Abnormality of eye movement	0	FGFR3 CL E G H	2261	3690	ORPHA:2363	Lacrimoauriculodentodigital syndrome			145
HP:0000496	HP:0000496	Abnormality of eye movement	0	FGFR3 CL E G H	2261	3690	OMIM:602849	Muenke syndrome			145
HP:0000496	HP:0000496	Abnormality of eye movement	0	FGFR3 CL E G H	2261	3690	ORPHA:794	Saethre-Chotzen syndrome			145
HP:0000496	HP:0000496	Abnormality of eye movement	0	FGFRL1 CL E G H	53834	3693	OMIM:194190	Wolf-Hirschhorn syndrome
HP:0000496	HP:0000496	Abnormality of eye movement	0	FIBP CL E G H	9158	3705	ORPHA:500095	Tall stature-intellectual disability-renal anomalies syndrome			2
HP:0000496	HP:0000496	Abnormality of eye movement	0	FIBP CL E G H	9158	3705	OMIM:617107	Thauvin-Robinet-Faivre syndrome			2
HP:0000496	HP:0000496	Abnormality of eye movement	0	FIG4 CL E G H	9896	16873	ORPHA:208441	Bilateral parasagittal parieto-occipital polymicrogyria			111
HP:0000496	HP:0000496	Abnormality of eye movement	0	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome
HP:0000496	HP:0000496	Abnormality of eye movement	0	FKRP CL E G H	79147	17997	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement			157
HP:0000496	HP:0000496	Abnormality of eye movement	0	FKRP CL E G H	79147	17997	ORPHA:370968	Congenital muscular dystrophy with intellectual disability			157
HP:0000496	HP:0000496	Abnormality of eye movement	0	FKRP CL E G H	79147	17997	ORPHA:588	Muscle-eye-brain disease			157
HP:0000496	HP:0000496	Abnormality of eye movement	0	FKTN CL E G H	2218	3622	ORPHA:588	Muscle-eye-brain disease			184
HP:0000496	HP:0000496	Abnormality of eye movement	0	FKTN CL E G H	2218	3622	OMIM:253800	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4	.		184
HP:0000496	HP:0000496	Abnormality of eye movement	0	FLI1 CL E G H	2313	3749	ORPHA:2308	Jacobsen syndrome			8
HP:0000496	HP:0000496	Abnormality of eye movement	0	FLII CL E G H	2314	3750	ORPHA:819	Smith-Magenis syndrome
HP:0000496	HP:0000496	Abnormality of eye movement	0	FLNA CL E G H	2316	3754	OMIM:300049	Heterotopia, periventricular, X-linked dominant			493
HP:0000496	HP:0000496	Abnormality of eye movement	0	FLNA CL E G H	2316	3754	OMIM:309350	Melnick-Needles syndrome			493
HP:0000496	HP:0000496	Abnormality of eye movement	0	FLRT1 CL E G H	23769	3760	ORPHA:320406	Spastic paraplegia-optic atrophy-neuropathy syndrome
HP:0000496	HP:0000496	Abnormality of eye movement	0	FLRT3 CL E G H	23767	3762	ORPHA:478	Kallmann syndrome			4
HP:0000496	HP:0000496	Abnormality of eye movement	0	FMR1 CL E G H	2332	3775	ORPHA:908	Fragile X syndrome			30
HP:0000496	HP:0000496	Abnormality of eye movement	0	FMR1 CL E G H	2332	3775	OMIM:300623	Fragile X tremor/ataxia syndrome			30
HP:0000496	HP:0000496	Abnormality of eye movement	0	FMR1 CL E G H	2332	3775	ORPHA:449291	Symptomatic form of fragile X syndrome in female carriers			30
HP:0000496	HP:0000496	Abnormality of eye movement	0	FN1 CL E G H	2335	3778	ORPHA:93315	Spondylometaphyseal dysplasia, 'corner fracture' type			9
HP:0000496	HP:0000496	Abnormality of eye movement	0	FOCAD CL E G H	54914	23377	OMIM:619991				3
HP:0000496	HP:0000496	Abnormality of eye movement	0	FOXC1 CL E G H	2296	3800	ORPHA:250923	Isolated aniridia			63
HP:0000496	HP:0000496	Abnormality of eye movement	0	FOXC1 CL E G H	2296	3800	ORPHA:708	Peters anomaly			63
HP:0000496	HP:0000496	Abnormality of eye movement	0	FOXE3 CL E G H	2301	3808	OMIM:610256	Anterior segment dysgenesis 2			23
HP:0000496	HP:0000496	Abnormality of eye movement	0	FOXE3 CL E G H	2301	3808	ORPHA:708	Peters anomaly			23
HP:0000496	HP:0000496	Abnormality of eye movement	0	FOXH1 CL E G H	8928	3814	ORPHA:280200	Microform holoprosencephaly			48
HP:0000496	HP:0000496	Abnormality of eye movement	0	FOXL2 CL E G H	668	1092	OMIM:110100	Blepharophimosis, epicanthus inversus, and ptosis			92
HP:0000496	HP:0000496	Abnormality of eye movement	0	FOXL2 CL E G H	668	1092	ORPHA:572333	Blepharophimosis-ptosis-epicanthus inversus syndrome plus			92
HP:0000496	HP:0000496	Abnormality of eye movement	0	FOXP1 CL E G H	27086	3823	ORPHA:391372	Intellectual disability-severe speech delay-mild dysmorphism syndrome			184
HP:0000496	HP:0000496	Abnormality of eye movement	0	FOXP1 CL E G H	27086	3823	OMIM:613670	Mental retardation with language impairment and with or without autistic features			184
HP:0000496	HP:0000496	Abnormality of eye movement	0	FOXRED1 CL E G H	55572	26927	ORPHA:2609	Isolated complex I deficiency			61
HP:0000496	HP:0000496	Abnormality of eye movement	0	FOXRED1 CL E G H	55572	26927	ORPHA:255241	Leigh syndrome with leukodystrophy			61
HP:0000496	HP:0000496	Abnormality of eye movement	0	FRG1 CL E G H	2483	3954	OMIM:158900	Facioscapulohumeral muscular dystrophy 1			1
HP:0000496	HP:0000496	Abnormality of eye movement	0	FRMD4A CL E G H	55691	25491	OMIM:616819	Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia			1
HP:0000496	HP:0000496	Abnormality of eye movement	0	FRMD4A CL E G H	55691	25491	ORPHA:466688	Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome			1
HP:0000496	HP:0000496	Abnormality of eye movement	0	FRMD5 CL E G H	84978	28214	OMIM:620094
HP:0000496	HP:0000496	Abnormality of eye movement	0	FRMD7 CL E G H	90167	8079	OMIM:310700	Nystagmus 1, congenital, X-linked			38
HP:0000496	HP:0000496	Abnormality of eye movement	0	FRMPD4 CL E G H	9758	29007	OMIM:300983	MENTAL RETARDATION, X-LINKED 104; MRX104			32
HP:0000496	HP:0000496	Abnormality of eye movement	0	FRRS1L CL E G H	23732	1362	OMIM:616981	Epileptic encephalopathy, early infantile, 37			4
HP:0000496	HP:0000496	Abnormality of eye movement	0	FSCN2 CL E G H	25794	3960	ORPHA:791	Retinitis pigmentosa			26
HP:0000496	HP:0000496	Abnormality of eye movement	0	FTL CL E G H	2512	3999	ORPHA:157846	Neuroferritinopathy			33
HP:0000496	HP:0000496	Abnormality of eye movement	0	FUS CL E G H	2521	4010	ORPHA:275872	Frontotemporal dementia with motor neuron disease			105
HP:0000496	HP:0000496	Abnormality of eye movement	0	FUS CL E G H	2521	4010	ORPHA:300605	Juvenile amyotrophic lateral sclerosis			105
HP:0000496	HP:0000496	Abnormality of eye movement	0	FUZ CL E G H	80199	26219	ORPHA:1136	Arnold-Chiari malformation type II			3
HP:0000496	HP:0000496	Abnormality of eye movement	0	FXN CL E G H	2395	3951	ORPHA:95	Friedreich ataxia			18
HP:0000496	HP:0000496	Abnormality of eye movement	0	FXN CL E G H	2395	3951	OMIM:229300	Friedreich ataxia 1			18
HP:0000496	HP:0000496	Abnormality of eye movement	0	FZD2 CL E G H	2535	4040	ORPHA:3107	Autosomal dominant Robinow syndrome
HP:0000496	HP:0000496	Abnormality of eye movement	0	FZD4 CL E G H	8322	4042	OMIM:133780	Exudative vitreoretinopathy 1			109
HP:0000496	HP:0000496	Abnormality of eye movement	0	FZD4 CL E G H	8322	4042	ORPHA:91495	Persistent hyperplastic primary vitreous			109
HP:0000496	HP:0000496	Abnormality of eye movement	0	FZR1 CL E G H	51343	24824	ORPHA:442835	Non-specific early-onset epileptic encephalopathy
HP:0000496	HP:0000496	Abnormality of eye movement	0	GABBR2 CL E G H	9568	4507	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			5
HP:0000496	HP:0000496	Abnormality of eye movement	0	GABRA1 CL E G H	2554	4075	ORPHA:64280	Childhood absence epilepsy			134
HP:0000496	HP:0000496	Abnormality of eye movement	0	GABRA1 CL E G H	2554	4075	ORPHA:307	Juvenile myoclonic epilepsy	HP:0040282 - Frequent		134
HP:0000496	HP:0000496	Abnormality of eye movement	0	GABRA2 CL E G H	2555	4076	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			4
HP:0000496	HP:0000496	Abnormality of eye movement	0	GABRA3 CL E G H	2556	4077	ORPHA:79102	Thyrotoxic periodic paralysis
HP:0000496	HP:0000496	Abnormality of eye movement	0	GABRA5 CL E G H	2558	4079	ORPHA:442835	Non-specific early-onset epileptic encephalopathy
HP:0000496	HP:0000496	Abnormality of eye movement	0	GABRB2 CL E G H	2561	4082	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			44
HP:0000496	HP:0000496	Abnormality of eye movement	0	GABRB3 CL E G H	2562	4083	ORPHA:64280	Childhood absence epilepsy			57
HP:0000496	HP:0000496	Abnormality of eye movement	0	GABRD CL E G H	2563	4084	ORPHA:1606	1p36 deletion syndrome			10
HP:0000496	HP:0000496	Abnormality of eye movement	0	GABRD CL E G H	2563	4084	ORPHA:307	Juvenile myoclonic epilepsy	HP:0040282 - Frequent		10
HP:0000496	HP:0000496	Abnormality of eye movement	0	GABRG2 CL E G H	2566	4087	ORPHA:64280	Childhood absence epilepsy			139
HP:0000496	HP:0000496	Abnormality of eye movement	0	GABRG2 CL E G H	2566	4087	OMIM:618396	Epileptic encephalopathy, early infantile, 74			139
HP:0000496	HP:0000496	Abnormality of eye movement	0	GABRG2 CL E G H	2566	4087	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			139
HP:0000496	HP:0000496	Abnormality of eye movement	0	GALC CL E G H	2581	4115	OMIM:245200	Krabbe disease			160
HP:0000496	HP:0000496	Abnormality of eye movement	0	GALC CL E G H	2581	4115	ORPHA:206443	Late-infantile/juvenile Krabbe disease			160
HP:0000496	HP:0000496	Abnormality of eye movement	0	GALNT2 CL E G H	2590	4124	OMIM:618885	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt; CDG2T
HP:0000496	HP:0000496	Abnormality of eye movement	0	GAN CL E G H	8139	4137	OMIM:256850	Giant axonal neuropathy 1, autosomal recessive			121
HP:0000496	HP:0000496	Abnormality of eye movement	0	GAS1 CL E G H	2619	4165	ORPHA:280200	Microform holoprosencephaly			2
HP:0000496	HP:0000496	Abnormality of eye movement	0	GATA1 CL E G H	2623	4170	ORPHA:124	Blackfan-Diamond anemia			29
HP:0000496	HP:0000496	Abnormality of eye movement	0	GATA1 CL E G H	2623	4170	OMIM:190685	Down syndrometrisomy 21, included			29
HP:0000496	HP:0000496	Abnormality of eye movement	0	GATA3 CL E G H	2625	4172	OMIM:146255	Hypoparathyroidism, sensorineural deafness, and renal dysplasia			83
HP:0000496	HP:0000496	Abnormality of eye movement	0	GATA4 CL E G H	2626	4173	ORPHA:251071	8p23.1 microdeletion syndrome			87
HP:0000496	HP:0000496	Abnormality of eye movement	0	GATAD2B CL E G H	57459	30778	OMIM:615074	Mental retardation, autosomal dominant 18			33
HP:0000496	HP:0000496	Abnormality of eye movement	0	GATAD2B CL E G H	57459	30778	ORPHA:363686	Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome			33
HP:0000496	HP:0000496	Abnormality of eye movement	0	GBA1 CL E G H	2629	4177	ORPHA:77260	Gaucher disease type 2
HP:0000496	HP:0000496	Abnormality of eye movement	0	GBA1 CL E G H	2629	4177	ORPHA:77261	Gaucher disease type 3
HP:0000496	HP:0000496	Abnormality of eye movement	0	GBA1 CL E G H	2629	4177	OMIM:608013	Gaucher disease, perinatal lethal
HP:0000496	HP:0000496	Abnormality of eye movement	0	GBA1 CL E G H	2629	4177	OMIM:230900	Gaucher disease, type II
HP:0000496	HP:0000496	Abnormality of eye movement	0	GBA1 CL E G H	2629	4177	OMIM:231000	Gaucher disease, type III
HP:0000496	HP:0000496	Abnormality of eye movement	0	GBA1 CL E G H	2629	4177	OMIM:231005	Gaucher disease, type IIIC
HP:0000496	HP:0000496	Abnormality of eye movement	0	GBA1 CL E G H	2629	4177	ORPHA:2072	Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome	HP:0040283 - Occasional
HP:0000496	HP:0000496	Abnormality of eye movement	0	GBA2 CL E G H	57704	18986	ORPHA:352641	Autosomal recessive cerebellar ataxia with late-onset spasticity			30
HP:0000496	HP:0000496	Abnormality of eye movement	0	GBA2 CL E G H	57704	18986	ORPHA:320391	Autosomal recessive spastic paraplegia type 46			30
HP:0000496	HP:0000496	Abnormality of eye movement	0	GBA2 CL E G H	57704	18986	OMIM:614409	Spastic paraplegia 46, autosomal recessive			30
HP:0000496	HP:0000496	Abnormality of eye movement	0	GCH1 CL E G H	2643	4193	ORPHA:98808	Autosomal dominant dopa-responsive dystonia			86
HP:0000496	HP:0000496	Abnormality of eye movement	0	GCH1 CL E G H	2643	4193	OMIM:128230	Dystonia, DOPA-responsive, with or without hyperphenylalaninemia			86
HP:0000496	HP:0000496	Abnormality of eye movement	0	GCH1 CL E G H	2643	4193	OMIM:233910	Hyperphenylalaninemia, BH4-deficient, B	.		86
HP:0000496	HP:0000496	Abnormality of eye movement	0	GDAP2 CL E G H	54834	18010	OMIM:618369	Spinocerebellar ataxia, autosomal recessive 27
HP:0000496	HP:0000496	Abnormality of eye movement	0	GDF3 CL E G H	9573	4218	OMIM:613703	MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 6; MCOPCB6			7
HP:0000496	HP:0000496	Abnormality of eye movement	0	GDF5 CL E G H	8200	4220	ORPHA:3250	Proximal symphalangism			52
HP:0000496	HP:0000496	Abnormality of eye movement	0	GDF6 CL E G H	392255	4221	ORPHA:65	Leber congenital amaurosis			64
HP:0000496	HP:0000496	Abnormality of eye movement	0	GDF6 CL E G H	392255	4221	OMIM:613703	MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 6; MCOPCB6			64
HP:0000496	HP:0000496	Abnormality of eye movement	0	GFAP CL E G H	2670	4235	OMIM:203450	Alexander disease			188
HP:0000496	HP:0000496	Abnormality of eye movement	0	GFAP CL E G H	2670	4235	ORPHA:363722	Alexander disease type II			188
HP:0000496	HP:0000496	Abnormality of eye movement	0	GFER CL E G H	2671	4236	ORPHA:330054	Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome			14
HP:0000496	HP:0000496	Abnormality of eye movement	0	GFM1 CL E G H	85476	13780	OMIM:609060	Combined oxidative phosphorylation deficiency 1			85
HP:0000496	HP:0000496	Abnormality of eye movement	0	GFPT1 CL E G H	2673	4241	OMIM:608931	Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency			128
HP:0000496	HP:0000496	Abnormality of eye movement	0	GFPT1 CL E G H	2673	4241	OMIM:610542	Myasthenic syndrome, congenital, with tubular aggregates 1			128
HP:0000496	HP:0000496	Abnormality of eye movement	0	GGCX CL E G H	2677	4247	ORPHA:436274	Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa			129
HP:0000496	HP:0000496	Abnormality of eye movement	0	GGT1 CL E G H	2678	4250	OMIM:231950	GLUTATHIONURIA
HP:0000496	HP:0000496	Abnormality of eye movement	0	GIPC1 CL E G H	10755	1226	ORPHA:98897	Oculopharyngodistal myopathy
HP:0000496	HP:0000496	Abnormality of eye movement	0	GIPC1 CL E G H	10755	1226	OMIM:618940	OCULOPHARYNGODISTAL MYOPATHY 2; OPDM2
HP:0000496	HP:0000496	Abnormality of eye movement	0	GJA1 CL E G H	2697	4274	ORPHA:2710	Oculodentodigital dysplasia			68
HP:0000496	HP:0000496	Abnormality of eye movement	0	GJA5 CL E G H	2702	4279	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb			39
HP:0000496	HP:0000496	Abnormality of eye movement	0	GJA8 CL E G H	2703	4281	ORPHA:1377	Cataract-microcornea syndrome			34
HP:0000496	HP:0000496	Abnormality of eye movement	0	GJA8 CL E G H	2703	4281	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb			34
HP:0000496	HP:0000496	Abnormality of eye movement	0	GJB1 CL E G H	2705	4283	OMIM:302800	Charcot-Marie-Tooth neuropathy, X-linked dominant, 1			107
HP:0000496	HP:0000496	Abnormality of eye movement	0	GJB1 CL E G H	2705	4283	ORPHA:1175	X-linked progressive cerebellar ataxia			107
HP:0000496	HP:0000496	Abnormality of eye movement	0	GJB6 CL E G H	10804	4288	OMIM:129500	Clouston syndrome			56
HP:0000496	HP:0000496	Abnormality of eye movement	0	GJC2 CL E G H	57165	17494	ORPHA:320401	Autosomal recessive spastic paraplegia type 44			37
HP:0000496	HP:0000496	Abnormality of eye movement	0	GJC2 CL E G H	57165	17494	OMIM:608804	Leukodystrophy, hypomyelinating, 2			37
HP:0000496	HP:0000496	Abnormality of eye movement	0	GJC2 CL E G H	57165	17494	OMIM:613206	Spastic paraplegia 44, autosomal recessive			37
HP:0000496	HP:0000496	Abnormality of eye movement	0	GK CL E G H	2710	4289	OMIM:307030	Glycerol kinase deficiency			13
HP:0000496	HP:0000496	Abnormality of eye movement	0	GLI1 CL E G H	2735	4317	ORPHA:289	Ellis Van Creveld syndrome			1
HP:0000496	HP:0000496	Abnormality of eye movement	0	GLI2 CL E G H	2736	4318	ORPHA:280200	Microform holoprosencephaly			173
HP:0000496	HP:0000496	Abnormality of eye movement	0	GLRB CL E G H	2743	4329	OMIM:614619	Hyperekplexia 2			46
HP:0000496	HP:0000496	Abnormality of eye movement	0	GLRX5 CL E G H	51218	20134	ORPHA:401866	Childhood-onset spasticity with hyperglycinemia			17
HP:0000496	HP:0000496	Abnormality of eye movement	0	GLRX5 CL E G H	51218	20134	OMIM:616859	Spasticity, childhood-onset, with hyperglycinemia			17
HP:0000496	HP:0000496	Abnormality of eye movement	0	GM2A CL E G H	2760	4367	ORPHA:309246	GM2 gangliosidosis, AB variant			69
HP:0000496	HP:0000496	Abnormality of eye movement	0	GMNN CL E G H	51053	17493	OMIM:616835	Meier-Gorlin syndrome 6			3
HP:0000496	HP:0000496	Abnormality of eye movement	0	GMPPA CL E G H	29926	22923	OMIM:615510	Alacrima, achalasia, and mental retardation syndrome			24
HP:0000496	HP:0000496	Abnormality of eye movement	0	GMPPB CL E G H	29925	22932	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement			34
HP:0000496	HP:0000496	Abnormality of eye movement	0	GMPPB CL E G H	29925	22932	ORPHA:370968	Congenital muscular dystrophy with intellectual disability			34
HP:0000496	HP:0000496	Abnormality of eye movement	0	GMPPB CL E G H	29925	22932	ORPHA:363623	GMPPB-related limb-girdle muscular dystrophy R19			34
HP:0000496	HP:0000496	Abnormality of eye movement	0	GMPPB CL E G H	29925	22932	ORPHA:588	Muscle-eye-brain disease			34
HP:0000496	HP:0000496	Abnormality of eye movement	0	GMPPB CL E G H	29925	22932	OMIM:615351	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14			34
HP:0000496	HP:0000496	Abnormality of eye movement	0	GMPPB CL E G H	29925	22932	OMIM:615352	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14			34
HP:0000496	HP:0000496	Abnormality of eye movement	0	GNA14 CL E G H	9630	4382	ORPHA:1063	Tufted angioma
HP:0000496	HP:0000496	Abnormality of eye movement	0	GNAO1 CL E G H	2775	4389	ORPHA:1934	Early infantile epileptic encephalopathy			36
HP:0000496	HP:0000496	Abnormality of eye movement	0	GNAQ CL E G H	2776	4390	ORPHA:3205	Sturge-Weber syndrome	HP:0040283 - Occasional		7
HP:0000496	HP:0000496	Abnormality of eye movement	0	GNAS CL E G H	2778	4392	ORPHA:79443	Pseudohypoparathyroidism type 1A			101
HP:0000496	HP:0000496	Abnormality of eye movement	0	GNAS CL E G H	2778	4392	ORPHA:94089	Pseudohypoparathyroidism type 1B			101
HP:0000496	HP:0000496	Abnormality of eye movement	0	GNAS CL E G H	2778	4392	ORPHA:79444	Pseudohypoparathyroidism type 1C			101
HP:0000496	HP:0000496	Abnormality of eye movement	0	GNAS CL E G H	2778	4392	OMIM:103580	Pseudohypoparathyroidism, type IA			101
HP:0000496	HP:0000496	Abnormality of eye movement	0	GNAS CL E G H	2778	4392	OMIM:612462	Pseudohypoparathyroidism, type IC			101
HP:0000496	HP:0000496	Abnormality of eye movement	0	GNAS CL E G H	2778	4392	OMIM:612463	PSEUDOPSEUDOHYPOPARATHYROIDISM			101
HP:0000496	HP:0000496	Abnormality of eye movement	0	GNAT1 CL E G H	2779	4393	ORPHA:215	Congenital stationary night blindness			39
HP:0000496	HP:0000496	Abnormality of eye movement	0	GNAT2 CL E G H	2780	4394	ORPHA:49382	Achromatopsia			19
HP:0000496	HP:0000496	Abnormality of eye movement	0	GNAT2 CL E G H	2780	4394	OMIM:613856	ACHROMATOPSIA 4; ACHM4			19
HP:0000496	HP:0000496	Abnormality of eye movement	0	GNB1 CL E G H	2782	4396	ORPHA:488613	Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome			12
HP:0000496	HP:0000496	Abnormality of eye movement	0	GNB1 CL E G H	2782	4396	OMIM:616973	Mental retardation, autosomal dominant 42			12
HP:0000496	HP:0000496	Abnormality of eye movement	0	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0000496	HP:0000496	Abnormality of eye movement	0	GNB3 CL E G H	2784	4400	ORPHA:215	Congenital stationary night blindness			5
HP:0000496	HP:0000496	Abnormality of eye movement	0	GNB5 CL E G H	10681	4401	ORPHA:542306	GNB5-related intellectual disability-cardiac arrhythmia syndrome			7
HP:0000496	HP:0000496	Abnormality of eye movement	0	GNB5 CL E G H	10681	4401	OMIM:617173	Intellectual developmental disorder with cardiac arrhythmia			7
HP:0000496	HP:0000496	Abnormality of eye movement	0	GNB5 CL E G H	10681	4401	OMIM:617182	Language delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmia			7
HP:0000496	HP:0000496	Abnormality of eye movement	0	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome			8
HP:0000496	HP:0000496	Abnormality of eye movement	0	GPAA1 CL E G H	8733	4446	OMIM:617810	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15; GPIBD15
HP:0000496	HP:0000496	Abnormality of eye movement	0	GPAA1 CL E G H	8733	4446	ORPHA:529665	Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome
HP:0000496	HP:0000496	Abnormality of eye movement	0	GPR143 CL E G H	4935	20145	OMIM:300500	Albinism, ocular, type I			64
HP:0000496	HP:0000496	Abnormality of eye movement	0	GPR143 CL E G H	4935	20145	OMIM:300814	Nystagmus 6, congenital, X-linked			64
HP:0000496	HP:0000496	Abnormality of eye movement	0	GPR143 CL E G H	4935	20145	ORPHA:54	X-linked recessive ocular albinism			64
HP:0000496	HP:0000496	Abnormality of eye movement	0	GPR179 CL E G H	440435	31371	ORPHA:215	Congenital stationary night blindness			124
HP:0000496	HP:0000496	Abnormality of eye movement	0	GPR179 CL E G H	440435	31371	OMIM:614565	Night blindness, congenital stationary, type 1E			124
HP:0000496	HP:0000496	Abnormality of eye movement	0	GRHL2 CL E G H	79977	2799	ORPHA:98973	Posterior polymorphous corneal dystrophy			33
HP:0000496	HP:0000496	Abnormality of eye movement	0	GRIA1 CL E G H	2890	4571	OMIM:619931				3
HP:0000496	HP:0000496	Abnormality of eye movement	0	GRIA4 CL E G H	2893	4574	OMIM:617864	Neurodevelopmental disorder with or without seizures and gait abnormalities
HP:0000496	HP:0000496	Abnormality of eye movement	0	GRID2 CL E G H	2895	4576	ORPHA:363432	Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency			18
HP:0000496	HP:0000496	Abnormality of eye movement	0	GRID2 CL E G H	2895	4576	OMIM:616204	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18; SCAR18			18
HP:0000496	HP:0000496	Abnormality of eye movement	0	GRIK2 CL E G H	2898	4580	OMIM:619580	NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND ATAXIA AND WITH OR WITHOUT SEIZURES; NEDLAS			32
HP:0000496	HP:0000496	Abnormality of eye movement	0	GRIN1 CL E G H	2902	4584	ORPHA:208447	Bilateral generalized polymicrogyria			108
HP:0000496	HP:0000496	Abnormality of eye movement	0	GRIN1 CL E G H	2902	4584	ORPHA:1934	Early infantile epileptic encephalopathy			108
HP:0000496	HP:0000496	Abnormality of eye movement	0	GRIN1 CL E G H	2902	4584	OMIM:617820	Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive			108
HP:0000496	HP:0000496	Abnormality of eye movement	0	GRIN2A CL E G H	2903	4585	ORPHA:289266	Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation			434
HP:0000496	HP:0000496	Abnormality of eye movement	0	GRIN2D CL E G H	2906	4588	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			2
HP:0000496	HP:0000496	Abnormality of eye movement	0	GRK1 CL E G H	6011	10013	ORPHA:215	Congenital stationary night blindness			4
HP:0000496	HP:0000496	Abnormality of eye movement	0	GRK1 CL E G H	6011	10013	ORPHA:75382	Oguchi disease			4
HP:0000496	HP:0000496	Abnormality of eye movement	0	GRM1 CL E G H	2911	4593	ORPHA:324262	Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency			8
HP:0000496	HP:0000496	Abnormality of eye movement	0	GRM1 CL E G H	2911	4593	OMIM:617691	SPINOCEREBELLAR ATAXIA 44; SCA44			8
HP:0000496	HP:0000496	Abnormality of eye movement	0	GRM1 CL E G H	2911	4593	OMIM:614831	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13; SCAR13			8
HP:0000496	HP:0000496	Abnormality of eye movement	0	GRM6 CL E G H	2916	4598	ORPHA:215	Congenital stationary night blindness			63
HP:0000496	HP:0000496	Abnormality of eye movement	0	GRM7 CL E G H	2917	4599	ORPHA:1934	Early infantile epileptic encephalopathy			5
HP:0000496	HP:0000496	Abnormality of eye movement	0	GTF2E2 CL E G H	2961	4651	ORPHA:33364	Trichothiodystrophy			2
HP:0000496	HP:0000496	Abnormality of eye movement	0	GTF2E2 CL E G H	2961	4651	OMIM:616943	Trichothiodystrophy 6, nonphotosensitive			2
HP:0000496	HP:0000496	Abnormality of eye movement	0	GTF2H5 CL E G H	404672	21157	ORPHA:33364	Trichothiodystrophy			3
HP:0000496	HP:0000496	Abnormality of eye movement	0	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome			1
HP:0000496	HP:0000496	Abnormality of eye movement	0	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome			1
HP:0000496	HP:0000496	Abnormality of eye movement	0	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome			1
HP:0000496	HP:0000496	Abnormality of eye movement	0	GUCA1B CL E G H	2979	4679	ORPHA:791	Retinitis pigmentosa			36
HP:0000496	HP:0000496	Abnormality of eye movement	0	GUCY2D CL E G H	3000	4689	OMIM:601777	Cone-Rod dystrophy 6			124
HP:0000496	HP:0000496	Abnormality of eye movement	0	GUCY2D CL E G H	3000	4689	ORPHA:65	Leber congenital amaurosis			124
HP:0000496	HP:0000496	Abnormality of eye movement	0	GUCY2D CL E G H	3000	4689	OMIM:204000	Leber congenital amaurosis, type I			124
HP:0000496	HP:0000496	Abnormality of eye movement	0	H1-4 CL E G H	3008	4718	OMIM:617537	Rahman syndrome
HP:0000496	HP:0000496	Abnormality of eye movement	0	H3-3A CL E G H	3020	4764	OMIM:619720	BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1; BRYLIB1
HP:0000496	HP:0000496	Abnormality of eye movement	0	H4C11 CL E G H	8363	4785	OMIM:619759	TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 2; TEVANED2
HP:0000496	HP:0000496	Abnormality of eye movement	0	H4C3 CL E G H	8364	4787	OMIM:619758	TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 1; TEVANED1
HP:0000496	HP:0000496	Abnormality of eye movement	0	H4C5 CL E G H	8367	4790	OMIM:619950
HP:0000496	HP:0000496	Abnormality of eye movement	0	H4C9 CL E G H	8294	4793	OMIM:619951
HP:0000496	HP:0000496	Abnormality of eye movement	0	HACD1 CL E G H	9200	9639	ORPHA:2020	Congenital fiber-type disproportion myopathy			2
HP:0000496	HP:0000496	Abnormality of eye movement	0	HACE1 CL E G H	57531	21033	OMIM:616756	Spastic paraplegia and psychomotor retardation with or without seizures			10
HP:0000496	HP:0000496	Abnormality of eye movement	0	HACE1 CL E G H	57531	21033	ORPHA:464282	Spastic paraplegia-severe developmental delay-epilepsy syndrome			10
HP:0000496	HP:0000496	Abnormality of eye movement	0	HADHA CL E G H	3030	4801	ORPHA:5	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency			99
HP:0000496	HP:0000496	Abnormality of eye movement	0	HARS1 CL E G H	3035	4816	OMIM:614504	Usher syndrome, type IIIB
HP:0000496	HP:0000496	Abnormality of eye movement	0	HCN1 CL E G H	348980	4845	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			54
HP:0000496	HP:0000496	Abnormality of eye movement	0	HDAC8 CL E G H	55869	13315	ORPHA:199	Cornelia de Lange syndrome			37
HP:0000496	HP:0000496	Abnormality of eye movement	0	HECW2 CL E G H	57520	29853	OMIM:617268	Neurodevelopmental disorder with hypotonia, seizures, and absent language			11
HP:0000496	HP:0000496	Abnormality of eye movement	0	HERC2 CL E G H	8924	4868	OMIM:615516	Mental retardation, autosomal recessive 38			38
HP:0000496	HP:0000496	Abnormality of eye movement	0	HERC2 CL E G H	8924	4868	OMIM:176270	Prader-Willi syndrome			38
HP:0000496	HP:0000496	Abnormality of eye movement	0	HESX1 CL E G H	8820	4877	ORPHA:478	Kallmann syndrome			21
HP:0000496	HP:0000496	Abnormality of eye movement	0	HESX1 CL E G H	8820	4877	ORPHA:3157	Septo-optic dysplasia spectrum			21
HP:0000496	HP:0000496	Abnormality of eye movement	0	HGSNAT CL E G H	138050	26527	ORPHA:791	Retinitis pigmentosa			86
HP:0000496	HP:0000496	Abnormality of eye movement	0	HHAT CL E G H	55733	18270	ORPHA:1422	Chondrodysplasia-disorder of sex development syndrome
HP:0000496	HP:0000496	Abnormality of eye movement	0	HIBCH CL E G H	26275	4908	OMIM:250620	3-Hydroxyisobutyryl-Coa hydrolase deficiency			32
HP:0000496	HP:0000496	Abnormality of eye movement	0	HIBCH CL E G H	26275	4908	ORPHA:88639	Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency			32
HP:0000496	HP:0000496	Abnormality of eye movement	0	HID1 CL E G H	283987	15736	OMIM:619983
HP:0000496	HP:0000496	Abnormality of eye movement	0	HIKESHI CL E G H	51501	26938	OMIM:616881	Leukodystrophy, hypomyelinating, 13			3
HP:0000496	HP:0000496	Abnormality of eye movement	0	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome			3
HP:0000496	HP:0000496	Abnormality of eye movement	0	HK1 CL E G H	3098	4922	OMIM:618547	NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES; NEDVIBA			11
HP:0000496	HP:0000496	Abnormality of eye movement	0	HLA-B CL E G H	3106	4932	ORPHA:397	Giant cell arteritis			4
HP:0000496	HP:0000496	Abnormality of eye movement	0	HLA-DQB1 CL E G H	3119	4944	OMIM:123400	Creutzfeldt-Jakob disease
HP:0000496	HP:0000496	Abnormality of eye movement	0	HLA-DRB1 CL E G H	3123	4948	ORPHA:397	Giant cell arteritis			2
HP:0000496	HP:0000496	Abnormality of eye movement	0	HMGB3 CL E G H	3149	5004	OMIM:300915	Microphthalmia, syndromic 13			2
HP:0000496	HP:0000496	Abnormality of eye movement	0	HMX1 CL E G H	3166	5017	OMIM:612109	Oculoauricular syndrome			2
HP:0000496	HP:0000496	Abnormality of eye movement	0	HNRNPH1 CL E G H	3187	5041	OMIM:620083
HP:0000496	HP:0000496	Abnormality of eye movement	0	HNRNPH2 CL E G H	3188	5042	OMIM:300986	MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE; MRXSB			3
HP:0000496	HP:0000496	Abnormality of eye movement	0	HNRNPR CL E G H	10236	5047	OMIM:620073
HP:0000496	HP:0000496	Abnormality of eye movement	0	HNRNPU CL E G H	3192	5048	ORPHA:238769	1q44 microdeletion syndrome			39
HP:0000496	HP:0000496	Abnormality of eye movement	0	HOXA1 CL E G H	3198	5099	OMIM:601536	ATHABASKAN BRAINSTEM DYSGENESIS SYNDROME; ABDS			34
HP:0000496	HP:0000496	Abnormality of eye movement	0	HOXA13 CL E G H	3209	5102	ORPHA:2438	Hand-foot-genital syndrome			11
HP:0000496	HP:0000496	Abnormality of eye movement	0	HOXB1 CL E G H	3211	5111	OMIM:614744	Facial paresis, hereditary congenital, 3			2
HP:0000496	HP:0000496	Abnormality of eye movement	0	HPDL CL E G H	84842	28242	OMIM:619026	NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE SPASTICITY AND BRAIN WHITE MATTER ABNORMALITIES; NEDSWMA
HP:0000496	HP:0000496	Abnormality of eye movement	0	HPS1 CL E G H	3257	5163	OMIM:203300	Hermansky-Pudlak syndrome 1			121
HP:0000496	HP:0000496	Abnormality of eye movement	0	HPS3 CL E G H	84343	15597	OMIM:614072	Hermansky-Pudlak syndrome 3			67
HP:0000496	HP:0000496	Abnormality of eye movement	0	HPS4 CL E G H	89781	15844	OMIM:614073	Hermansky-Pudlak syndrome 4			123
HP:0000496	HP:0000496	Abnormality of eye movement	0	HPS5 CL E G H	11234	17022	OMIM:614074	Hermansky-Pudlak syndrome 5			105
HP:0000496	HP:0000496	Abnormality of eye movement	0	HPS6 CL E G H	79803	18817	OMIM:614075	Hermansky-Pudlak syndrome 6			45
HP:0000496	HP:0000496	Abnormality of eye movement	0	HRAS CL E G H	3265	5173	OMIM:218040	Costello syndrome			113
HP:0000496	HP:0000496	Abnormality of eye movement	0	HRAS CL E G H	3265	5173	ORPHA:3071	Costello syndrome			113
HP:0000496	HP:0000496	Abnormality of eye movement	0	HRAS CL E G H	3265	5173	OMIM:163200	Schimmelpenning-Feuerstein-Mims syndrome			113
HP:0000496	HP:0000496	Abnormality of eye movement	0	HS6ST1 CL E G H	9394	5201	ORPHA:478	Kallmann syndrome			8
HP:0000496	HP:0000496	Abnormality of eye movement	0	HSD17B10 CL E G H	3028	4800	ORPHA:391428	HSD10 disease, infantile type			19
HP:0000496	HP:0000496	Abnormality of eye movement	0	HSD17B10 CL E G H	3028	4800	OMIM:300438	HSD10 mitochondrial disease			19
HP:0000496	HP:0000496	Abnormality of eye movement	0	HSD17B4 CL E G H	3295	5213	OMIM:261515	D-bifunctional protein deficiency			98
HP:0000496	HP:0000496	Abnormality of eye movement	0	HSD17B4 CL E G H	3295	5213	OMIM:233400	Perrault syndrome 1			98
HP:0000496	HP:0000496	Abnormality of eye movement	0	HSPD1 CL E G H	3329	5261	OMIM:612233	Leukodystrophy, hypomyelinating, 4			46
HP:0000496	HP:0000496	Abnormality of eye movement	0	HSPG2 CL E G H	3339	5273	ORPHA:1606	1p36 deletion syndrome			345
HP:0000496	HP:0000496	Abnormality of eye movement	0	HSPG2 CL E G H	3339	5273	ORPHA:800	Schwartz-Jampel syndrome			345
HP:0000496	HP:0000496	Abnormality of eye movement	0	HTRA1 CL E G H	5654	9476	OMIM:600142	Autosomal recessive cerebral arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL)			34
HP:0000496	HP:0000496	Abnormality of eye movement	0	HTT CL E G H	3064	4851	OMIM:143100	Huntington disease	.		12
HP:0000496	HP:0000496	Abnormality of eye movement	0	HTT CL E G H	3064	4851	ORPHA:399	Huntington disease	HP:0040282 - Frequent		12
HP:0000496	HP:0000496	Abnormality of eye movement	0	HTT CL E G H	3064	4851	ORPHA:248111	Juvenile Huntington disease			12
HP:0000496	HP:0000496	Abnormality of eye movement	0	HUWE1 CL E G H	10075	30892	OMIM:309590	Mental retardation, x-linked syndromic, Turner type			98
HP:0000496	HP:0000496	Abnormality of eye movement	0	HYLS1 CL E G H	219844	26558	ORPHA:475	Joubert syndrome			31
HP:0000496	HP:0000496	Abnormality of eye movement	0	IARS2 CL E G H	55699	29685	OMIM:616007	Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia			25
HP:0000496	HP:0000496	Abnormality of eye movement	0	IBA57 CL E G H	200205	27302	OMIM:615330	Multiple mitochondrial dysfunctions syndrome 3			16
HP:0000496	HP:0000496	Abnormality of eye movement	0	IDH1 CL E G H	3417	5382	ORPHA:99646	Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria			15
HP:0000496	HP:0000496	Abnormality of eye movement	0	IDH3A CL E G H	3419	5384	ORPHA:791	Retinitis pigmentosa
HP:0000496	HP:0000496	Abnormality of eye movement	0	IDH3A CL E G H	3419	5384	OMIM:619007	RETINITIS PIGMENTOSA 90; RP90
HP:0000496	HP:0000496	Abnormality of eye movement	0	IDH3B CL E G H	3420	5385	ORPHA:791	Retinitis pigmentosa			30
HP:0000496	HP:0000496	Abnormality of eye movement	0	IFIH1 CL E G H	64135	18873	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional		28
HP:0000496	HP:0000496	Abnormality of eye movement	0	IFIH1 CL E G H	64135	18873	OMIM:615846	Aicardi-Goutieres syndrome 7	HP:0040283 - Occasional		28
HP:0000496	HP:0000496	Abnormality of eye movement	0	IFRD1 CL E G H	3475	5456	ORPHA:98771	Spinocerebellar ataxia type 18			1
HP:0000496	HP:0000496	Abnormality of eye movement	0	IFT122 CL E G H	55764	13556	ORPHA:1515	Cranioectodermal dysplasia			93
HP:0000496	HP:0000496	Abnormality of eye movement	0	IFT122 CL E G H	55764	13556	OMIM:218330	Cranioectodermal dysplasia			93
HP:0000496	HP:0000496	Abnormality of eye movement	0	IFT140 CL E G H	9742	29077	ORPHA:65	Leber congenital amaurosis			148
HP:0000496	HP:0000496	Abnormality of eye movement	0	IFT140 CL E G H	9742	29077	ORPHA:791	Retinitis pigmentosa			148
HP:0000496	HP:0000496	Abnormality of eye movement	0	IFT140 CL E G H	9742	29077	OMIM:266920	Short-rib thoracic dysplasia 9 with or without polydactyly			148
HP:0000496	HP:0000496	Abnormality of eye movement	0	IFT172 CL E G H	26160	30391	ORPHA:110	Bardet-Biedl syndrome			48
HP:0000496	HP:0000496	Abnormality of eye movement	0	IFT172 CL E G H	26160	30391	ORPHA:791	Retinitis pigmentosa			48
HP:0000496	HP:0000496	Abnormality of eye movement	0	IFT172 CL E G H	26160	30391	OMIM:615630	Short-Rib thoracic dysplasia 10 with or without polydactyly			48
HP:0000496	HP:0000496	Abnormality of eye movement	0	IFT27 CL E G H	11020	18626	ORPHA:110	Bardet-Biedl syndrome			1
HP:0000496	HP:0000496	Abnormality of eye movement	0	IFT43 CL E G H	112752	29669	ORPHA:1515	Cranioectodermal dysplasia			11
HP:0000496	HP:0000496	Abnormality of eye movement	0	IFT52 CL E G H	51098	15901	ORPHA:1515	Cranioectodermal dysplasia			4
HP:0000496	HP:0000496	Abnormality of eye movement	0	IFT52 CL E G H	51098	15901	OMIM:617102	Short-Rib thoracic dysplasia 16 with or without polydactyly			4
HP:0000496	HP:0000496	Abnormality of eye movement	0	IFT74 CL E G H	80173	21424	ORPHA:110	Bardet-Biedl syndrome			3
HP:0000496	HP:0000496	Abnormality of eye movement	0	IFT74 CL E G H	80173	21424	OMIM:619582	JOUBERT SYNDROME 40; JBTS40			3
HP:0000496	HP:0000496	Abnormality of eye movement	0	IFT88 CL E G H	8100	20606	ORPHA:791	Retinitis pigmentosa			3
HP:0000496	HP:0000496	Abnormality of eye movement	0	IGBP1 CL E G H	3476	5461	ORPHA:52055	Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome			5
HP:0000496	HP:0000496	Abnormality of eye movement	0	IGBP1 CL E G H	3476	5461	OMIM:300472	CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA, AND MICROGNATHIA			5
HP:0000496	HP:0000496	Abnormality of eye movement	0	IGF1R CL E G H	3480	5465	OMIM:270450	Insulin-Like growth factor I, resistance to			268
HP:0000496	HP:0000496	Abnormality of eye movement	0	IKBKG CL E G H	8517	5961	ORPHA:464	Incontinentia pigmenti			52
HP:0000496	HP:0000496	Abnormality of eye movement	0	IKBKG CL E G H	8517	5961	OMIM:308300	Incontinentia pigmenti			52
HP:0000496	HP:0000496	Abnormality of eye movement	0	IL17RD CL E G H	54756	17616	ORPHA:478	Kallmann syndrome			9
HP:0000496	HP:0000496	Abnormality of eye movement	0	IL1RAPL1 CL E G H	11141	5996	OMIM:300143	Mental retardation, X-linked 21			42
HP:0000496	HP:0000496	Abnormality of eye movement	0	IMPDH1 CL E G H	3614	6052	ORPHA:65	Leber congenital amaurosis			52
HP:0000496	HP:0000496	Abnormality of eye movement	0	IMPDH1 CL E G H	3614	6052	OMIM:613837	Leber congenital amaurosis 11			52
HP:0000496	HP:0000496	Abnormality of eye movement	0	IMPDH1 CL E G H	3614	6052	ORPHA:791	Retinitis pigmentosa			52
HP:0000496	HP:0000496	Abnormality of eye movement	0	IMPDH2 CL E G H	3615	6053	ORPHA:98808	Autosomal dominant dopa-responsive dystonia			1
HP:0000496	HP:0000496	Abnormality of eye movement	0	IMPG1 CL E G H	3617	6055	ORPHA:791	Retinitis pigmentosa			4
HP:0000496	HP:0000496	Abnormality of eye movement	0	IMPG2 CL E G H	50939	18362	ORPHA:791	Retinitis pigmentosa			120
HP:0000496	HP:0000496	Abnormality of eye movement	0	INPP5E CL E G H	56623	21474	ORPHA:475	Joubert syndrome			111
HP:0000496	HP:0000496	Abnormality of eye movement	0	INPP5E CL E G H	56623	21474	OMIM:213300	Joubert syndrome 1			111
HP:0000496	HP:0000496	Abnormality of eye movement	0	INPP5E CL E G H	56623	21474	ORPHA:1454	Joubert syndrome with hepatic defect			111
HP:0000496	HP:0000496	Abnormality of eye movement	0	INPP5E CL E G H	56623	21474	ORPHA:220493	Joubert syndrome with ocular defect			111
HP:0000496	HP:0000496	Abnormality of eye movement	0	INPP5K CL E G H	51763	33882	ORPHA:559	Marinesco-Sjögren syndrome			7
HP:0000496	HP:0000496	Abnormality of eye movement	0	INPP5K CL E G H	51763	33882	OMIM:617404	Muscular dystrophy, congenital, with cataracts and intellectual disability			7
HP:0000496	HP:0000496	Abnormality of eye movement	0	INTS1 CL E G H	26173	24555	OMIM:618571	NEURODEVELOPMENTAL DISORDER WITH CATARACTS, POOR GROWTH, AND DYSMORPHIC FACIES; NDCAGF
HP:0000496	HP:0000496	Abnormality of eye movement	0	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0000496	HP:0000496	Abnormality of eye movement	0	IPW CL E G H	3653	6109	OMIM:176270	Prader-Willi syndrome
HP:0000496	HP:0000496	Abnormality of eye movement	0	IQCB1 CL E G H	9657	28949	ORPHA:65	Leber congenital amaurosis			61
HP:0000496	HP:0000496	Abnormality of eye movement	0	IQSEC2 CL E G H	23096	29059	OMIM:309530	Mental retardation, X-linked 1			119
HP:0000496	HP:0000496	Abnormality of eye movement	0	IQSEC2 CL E G H	23096	29059	ORPHA:397933	Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome			119
HP:0000496	HP:0000496	Abnormality of eye movement	0	IQSEC2 CL E G H	23096	29059	ORPHA:819	Smith-Magenis syndrome			119
HP:0000496	HP:0000496	Abnormality of eye movement	0	IRF2BPL CL E G H	64207	14282	OMIM:618088	Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures	HP:0040284 - Very rare
HP:0000496	HP:0000496	Abnormality of eye movement	0	ISCA2 CL E G H	122961	19857	OMIM:616370	Multiple mitochondrial dysfunctions syndrome 4			7
HP:0000496	HP:0000496	Abnormality of eye movement	0	ISCU CL E G H	23479	29882	OMIM:255125	Myopathy with exercise intolerance, Swedish type			19
HP:0000496	HP:0000496	Abnormality of eye movement	0	ITGA7 CL E G H	3679	6143	ORPHA:2020	Congenital fiber-type disproportion myopathy			127
HP:0000496	HP:0000496	Abnormality of eye movement	0	ITPR1 CL E G H	3708	6180	OMIM:206700	Gillespie syndrome			177
HP:0000496	HP:0000496	Abnormality of eye movement	0	ITPR1 CL E G H	3708	6180	OMIM:606658	Spinocerebellar ataxia 15			177
HP:0000496	HP:0000496	Abnormality of eye movement	0	ITPR1 CL E G H	3708	6180	OMIM:117360	Spinocerebellar ataxia 29			177
HP:0000496	HP:0000496	Abnormality of eye movement	0	ITPR1 CL E G H	3708	6180	ORPHA:208513	Spinocerebellar ataxia type 29			177
HP:0000496	HP:0000496	Abnormality of eye movement	0	JAG1 CL E G H	182	6188	OMIM:118450	Alagille syndrome 1			257
HP:0000496	HP:0000496	Abnormality of eye movement	0	JAM2 CL E G H	58494	14686	OMIM:618824	BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 8, AUTOSOMAL RECESSIVE; IBGC8
HP:0000496	HP:0000496	Abnormality of eye movement	0	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome			2
HP:0000496	HP:0000496	Abnormality of eye movement	0	JRK CL E G H	8629	6199	ORPHA:64280	Childhood absence epilepsy
HP:0000496	HP:0000496	Abnormality of eye movement	0	JRK CL E G H	8629	6199	ORPHA:307	Juvenile myoclonic epilepsy	HP:0040282 - Frequent
HP:0000496	HP:0000496	Abnormality of eye movement	0	KANK1 CL E G H	23189	19309	OMIM:612900	CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, 2; CPSQ2			26
HP:0000496	HP:0000496	Abnormality of eye movement	0	KANSL1 CL E G H	284058	24565	ORPHA:363958	17q21.31 microdeletion syndrome			283
HP:0000496	HP:0000496	Abnormality of eye movement	0	KANSL1 CL E G H	284058	24565	OMIM:610443	Koolen-De Vries syndrome			283
HP:0000496	HP:0000496	Abnormality of eye movement	0	KANSL1 CL E G H	284058	24565	ORPHA:363965	Koolen-De Vries syndrome due to a point mutation			283
HP:0000496	HP:0000496	Abnormality of eye movement	0	KARS1 CL E G H	3735	6215	OMIM:619147	LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS; LEPID
HP:0000496	HP:0000496	Abnormality of eye movement	0	KAT5 CL E G H	10524	5275	OMIM:619103	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES; NEDFASB			1
HP:0000496	HP:0000496	Abnormality of eye movement	0	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome			34
HP:0000496	HP:0000496	Abnormality of eye movement	0	KAT6A CL E G H	7994	13013	ORPHA:457193	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome			34
HP:0000496	HP:0000496	Abnormality of eye movement	0	KAT8 CL E G H	84148	17933	OMIM:618974	LI-GHORBANI-WEISZ-HUBSHMAN SYNDROME; LIGOWS
HP:0000496	HP:0000496	Abnormality of eye movement	0	KATNIP CL E G H	23247	29068	ORPHA:475	Joubert syndrome
HP:0000496	HP:0000496	Abnormality of eye movement	0	KATNIP CL E G H	23247	29068	OMIM:616784	JOUBERT SYNDROME 26; JBTS26
HP:0000496	HP:0000496	Abnormality of eye movement	0	KCNA1 CL E G H	3736	6218	ORPHA:1934	Early infantile epileptic encephalopathy			145
HP:0000496	HP:0000496	Abnormality of eye movement	0	KCNA2 CL E G H	3737	6220	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			13
HP:0000496	HP:0000496	Abnormality of eye movement	0	KCNAB2 CL E G H	8514	6229	ORPHA:1606	1p36 deletion syndrome			1
HP:0000496	HP:0000496	Abnormality of eye movement	0	KCNB1 CL E G H	3745	6231	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			65
HP:0000496	HP:0000496	Abnormality of eye movement	0	KCNC3 CL E G H	3748	6235	OMIM:605259	Spinocerebellar ataxia 13			17
HP:0000496	HP:0000496	Abnormality of eye movement	0	KCNC3 CL E G H	3748	6235	ORPHA:98768	Spinocerebellar ataxia type 13			17
HP:0000496	HP:0000496	Abnormality of eye movement	0	KCND3 CL E G H	3752	6239	OMIM:607346	Spinocerebellar ataxia 19			35
HP:0000496	HP:0000496	Abnormality of eye movement	0	KCND3 CL E G H	3752	6239	ORPHA:98772	Spinocerebellar ataxia type 19/22			35
HP:0000496	HP:0000496	Abnormality of eye movement	0	KCNE5 CL E G H	23630	6241	ORPHA:86818	Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome			5
HP:0000496	HP:0000496	Abnormality of eye movement	0	KCNH1 CL E G H	3756	6250	OMIM:135500	Zimmermann-Laband syndrome 1			13
HP:0000496	HP:0000496	Abnormality of eye movement	0	KCNJ13 CL E G H	3769	6259	ORPHA:65	Leber congenital amaurosis			42
HP:0000496	HP:0000496	Abnormality of eye movement	0	KCNJ13 CL E G H	3769	6259	OMIM:614186	Leber congenital amaurosis 16			42
HP:0000496	HP:0000496	Abnormality of eye movement	0	KCNJ18 CL E G H	100134444	39080	ORPHA:79102	Thyrotoxic periodic paralysis			10
HP:0000496	HP:0000496	Abnormality of eye movement	0	KCNJ6 CL E G H	3763	6267	ORPHA:435628	Keppen-Lubinsky syndrome	HP:0040282 - Frequent		3
HP:0000496	HP:0000496	Abnormality of eye movement	0	KCNK4 CL E G H	50801	6279	OMIM:618381	Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome
HP:0000496	HP:0000496	Abnormality of eye movement	0	KCNMA1 CL E G H	3778	6284	ORPHA:79137	Generalized epilepsy-paroxysmal dyskinesia syndrome			114
HP:0000496	HP:0000496	Abnormality of eye movement	0	KCNMA1 CL E G H	3778	6284	OMIM:618729	LIANG-WANG SYNDROME; LIWAS			114
HP:0000496	HP:0000496	Abnormality of eye movement	0	KCNN2 CL E G H	3781	6291	OMIM:619724	DYSTONIA 34, MYOCLONIC; DYT34
HP:0000496	HP:0000496	Abnormality of eye movement	0	KCNQ3 CL E G H	3786	6297	ORPHA:307	Juvenile myoclonic epilepsy	HP:0040282 - Frequent		302
HP:0000496	HP:0000496	Abnormality of eye movement	0	KCNV2 CL E G H	169522	19698	OMIM:610356	Retinal cone dystrophy 3B			73
HP:0000496	HP:0000496	Abnormality of eye movement	0	KDM1A CL E G H	23028	29079	OMIM:616728	Cleft palate, psychomotor retardation, and distinctive facial features			3
HP:0000496	HP:0000496	Abnormality of eye movement	0	KDM1A CL E G H	23028	29079	ORPHA:477993	Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome			3
HP:0000496	HP:0000496	Abnormality of eye movement	0	KDM5B CL E G H	10765	18039	OMIM:618109	Mental retardation, autosomal recessive 65			2
HP:0000496	HP:0000496	Abnormality of eye movement	0	KDM5C CL E G H	8242	11114	OMIM:300534	Mental retardation, X-linked, syndromic, Claes-Jensen type			81
HP:0000496	HP:0000496	Abnormality of eye movement	0	KDM5C CL E G H	8242	11114	ORPHA:85279	Syndromic X-linked intellectual disability due to JARID1C mutation			81
HP:0000496	HP:0000496	Abnormality of eye movement	0	KDM6A CL E G H	7403	12637	ORPHA:2322	Kabuki syndrome			53
HP:0000496	HP:0000496	Abnormality of eye movement	0	KDM6A CL E G H	7403	12637	OMIM:147920	Kabuki syndrome 1			53
HP:0000496	HP:0000496	Abnormality of eye movement	0	KDM6A CL E G H	7403	12637	OMIM:300867	Kabuki syndrome 2			53
HP:0000496	HP:0000496	Abnormality of eye movement	0	KDM6B CL E G H	23135	29012	OMIM:618505	Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities			9
HP:0000496	HP:0000496	Abnormality of eye movement	0	KIAA0586 CL E G H	9786	19960	ORPHA:475	Joubert syndrome			24
HP:0000496	HP:0000496	Abnormality of eye movement	0	KIAA0586 CL E G H	9786	19960	OMIM:616490	Joubert syndrome 23	.		24
HP:0000496	HP:0000496	Abnormality of eye movement	0	KIAA0586 CL E G H	9786	19960	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy			24
HP:0000496	HP:0000496	Abnormality of eye movement	0	KIAA0753 CL E G H	9851	29110	OMIM:619476	JOUBERT SYNDROME 38; JBTS38			4
HP:0000496	HP:0000496	Abnormality of eye movement	0	KIAA0753 CL E G H	9851	29110	ORPHA:2754	Orofaciodigital syndrome type 6			4
HP:0000496	HP:0000496	Abnormality of eye movement	0	KIAA1549 CL E G H	57670	22219	ORPHA:791	Retinitis pigmentosa
HP:0000496	HP:0000496	Abnormality of eye movement	0	KIDINS220 CL E G H	57498	29508	OMIM:617296	SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY; SINO			4
HP:0000496	HP:0000496	Abnormality of eye movement	0	KIDINS220 CL E G H	57498	29508	ORPHA:521390	Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome			4
HP:0000496	HP:0000496	Abnormality of eye movement	0	KIF11 CL E G H	3832	6388	OMIM:152950	Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation			46
HP:0000496	HP:0000496	Abnormality of eye movement	0	KIF14 CL E G H	9928	19181	OMIM:617914	Microcephaly 20, primary, autosomal recessive			9
HP:0000496	HP:0000496	Abnormality of eye movement	0	KIF15 CL E G H	56992	17273	ORPHA:261323	21q22.11q22.12 microdeletion syndrome
HP:0000496	HP:0000496	Abnormality of eye movement	0	KIF1A CL E G H	547	888	ORPHA:101010	Autosomal spastic paraplegia type 30			276
HP:0000496	HP:0000496	Abnormality of eye movement	0	KIF1A CL E G H	547	888	OMIM:614255	Mental retardation, autosomal dominant 9			276
HP:0000496	HP:0000496	Abnormality of eye movement	0	KIF1A CL E G H	547	888	ORPHA:2836	PEHO syndrome	HP:0040281 - Very frequent		276
HP:0000496	HP:0000496	Abnormality of eye movement	0	KIF1B CL E G H	23095	16636	OMIM:256700	Neuroblastoma, susceptibility to			202
HP:0000496	HP:0000496	Abnormality of eye movement	0	KIF1C CL E G H	10749	6317	ORPHA:397946	Autosomal spastic paraplegia type 58			38
HP:0000496	HP:0000496	Abnormality of eye movement	0	KIF1C CL E G H	10749	6317	OMIM:611302	Spastic ataxia 2, autosomal recessive			38
HP:0000496	HP:0000496	Abnormality of eye movement	0	KIF21A CL E G H	55605	19349	OMIM:135700	Fibrosis of extraocular muscles, congenital, 1			93
HP:0000496	HP:0000496	Abnormality of eye movement	0	KIF22 CL E G H	3835	6391	ORPHA:93360	Spondyloepimetaphyseal dysplasia with multiple dislocations			14
HP:0000496	HP:0000496	Abnormality of eye movement	0	KIF2A CL E G H	3796	6318	OMIM:615411	Cortical dysplasia, complex, with other brain malformations 3			15
HP:0000496	HP:0000496	Abnormality of eye movement	0	KIF5A CL E G H	3798	6323	OMIM:617235	Myoclonus, intractable, neonatal			93
HP:0000496	HP:0000496	Abnormality of eye movement	0	KIF7 CL E G H	374654	30497	OMIM:200990	Acrocallosal syndrome			167
HP:0000496	HP:0000496	Abnormality of eye movement	0	KIF7 CL E G H	374654	30497	ORPHA:2754	Orofaciodigital syndrome type 6			167
HP:0000496	HP:0000496	Abnormality of eye movement	0	KIZ CL E G H	55857	15865	ORPHA:791	Retinitis pigmentosa			3
HP:0000496	HP:0000496	Abnormality of eye movement	0	KLC2 CL E G H	64837	20716	OMIM:609541	Spastic paraplegia, optic atrophy, and neuropathy			1
HP:0000496	HP:0000496	Abnormality of eye movement	0	KLC2 CL E G H	64837	20716	ORPHA:320406	Spastic paraplegia-optic atrophy-neuropathy syndrome			1
HP:0000496	HP:0000496	Abnormality of eye movement	0	KLF13 CL E G H	51621	13672	OMIM:612001	Chromosome 15q13.3 microdeletion syndrome
HP:0000496	HP:0000496	Abnormality of eye movement	0	KLHL40 CL E G H	131377	30372	OMIM:615348	NEMALINE MYOPATHY 8; NEM8			28
HP:0000496	HP:0000496	Abnormality of eye movement	0	KLHL40 CL E G H	131377	30372	ORPHA:171430	Severe congenital nemaline myopathy			28
HP:0000496	HP:0000496	Abnormality of eye movement	0	KLHL41 CL E G H	10324	16905	ORPHA:171433	Intermediate nemaline myopathy			13
HP:0000496	HP:0000496	Abnormality of eye movement	0	KLHL41 CL E G H	10324	16905	ORPHA:171430	Severe congenital nemaline myopathy			13
HP:0000496	HP:0000496	Abnormality of eye movement	0	KLHL7 CL E G H	55975	15646	ORPHA:791	Retinitis pigmentosa			42
HP:0000496	HP:0000496	Abnormality of eye movement	0	KMT2A CL E G H	4297	7132	OMIM:605130	Wiedemann-Steiner syndrome			91
HP:0000496	HP:0000496	Abnormality of eye movement	0	KMT2B CL E G H	9757	15840	OMIM:619934				11
HP:0000496	HP:0000496	Abnormality of eye movement	0	KMT2B CL E G H	9757	15840	ORPHA:589618	Dystonia 28			11
HP:0000496	HP:0000496	Abnormality of eye movement	0	KMT2B CL E G H	9757	15840	OMIM:617284	Dystonia 28, childhood-onset	HP:0040283 - Occasional		11
HP:0000496	HP:0000496	Abnormality of eye movement	0	KMT2D CL E G H	8085	7133	ORPHA:2322	Kabuki syndrome			660
HP:0000496	HP:0000496	Abnormality of eye movement	0	KMT2D CL E G H	8085	7133	OMIM:147920	Kabuki syndrome 1			660
HP:0000496	HP:0000496	Abnormality of eye movement	0	KRAS CL E G H	3845	6407	ORPHA:1340	Cardiofaciocutaneous syndrome			196
HP:0000496	HP:0000496	Abnormality of eye movement	0	KRAS CL E G H	3845	6407	ORPHA:648	Noonan syndrome			196
HP:0000496	HP:0000496	Abnormality of eye movement	0	KRAS CL E G H	3845	6407	OMIM:609942	Noonan syndrome 3			196
HP:0000496	HP:0000496	Abnormality of eye movement	0	KRAS CL E G H	3845	6407	OMIM:600268	Oculoectodermal syndrome			196
HP:0000496	HP:0000496	Abnormality of eye movement	0	KRAS CL E G H	3845	6407	OMIM:163200	Schimmelpenning-Feuerstein-Mims syndrome			196
HP:0000496	HP:0000496	Abnormality of eye movement	0	KRAS CL E G H	3845	6407	ORPHA:3339	Toriello-Lacassie-Droste syndrome			196
HP:0000496	HP:0000496	Abnormality of eye movement	0	KRT10 CL E G H	3858	6413	OMIM:609165	Erythroderma, ichthyosiform, congenital reticular			45
HP:0000496	HP:0000496	Abnormality of eye movement	0	KRT14 CL E G H	3861	6416	ORPHA:79396	Autosomal dominant generalized epidermolysis bullosa simplex, severe form			110
HP:0000496	HP:0000496	Abnormality of eye movement	0	KRT25 CL E G H	147183	30839	ORPHA:170	Woolly hair			2
HP:0000496	HP:0000496	Abnormality of eye movement	0	KRT5 CL E G H	3852	6442	ORPHA:79396	Autosomal dominant generalized epidermolysis bullosa simplex, severe form			173
HP:0000496	HP:0000496	Abnormality of eye movement	0	KRT71 CL E G H	112802	28927	ORPHA:170	Woolly hair			1
HP:0000496	HP:0000496	Abnormality of eye movement	0	KRT74 CL E G H	121391	28929	ORPHA:170	Woolly hair			5
HP:0000496	HP:0000496	Abnormality of eye movement	0	L1CAM CL E G H	3897	6470	ORPHA:2182	Hydrocephalus with stenosis of the aqueduct of Sylvius			134
HP:0000496	HP:0000496	Abnormality of eye movement	0	L1CAM CL E G H	3897	6470	OMIM:303350	MASA syndrome			134
HP:0000496	HP:0000496	Abnormality of eye movement	0	L2HGDH CL E G H	79944	20499	OMIM:236792	L-2-Hydroxyglutaric aciduria			34
HP:0000496	HP:0000496	Abnormality of eye movement	0	LAGE3 CL E G H	8270	26058	OMIM:301006	Galloway-Mowat syndrome 2, X-linked
HP:0000496	HP:0000496	Abnormality of eye movement	0	LAMA1 CL E G H	284217	6481	ORPHA:370022	Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome			35
HP:0000496	HP:0000496	Abnormality of eye movement	0	LAMA1 CL E G H	284217	6481	OMIM:615960	Poretti-Boltshauser syndrome			35
HP:0000496	HP:0000496	Abnormality of eye movement	0	LAMA2 CL E G H	3908	6482	OMIM:607855	Muscular dystrophy, congenital, merosin deficient or partially deficient			411
HP:0000496	HP:0000496	Abnormality of eye movement	0	LAMB2 CL E G H	3913	6487	OMIM:614199	Nephrotic syndrome, type 5, with or without ocular abnormalities			92
HP:0000496	HP:0000496	Abnormality of eye movement	0	LAMB2 CL E G H	3913	6487	ORPHA:98915	Synaptic congenital myasthenic syndromes			92
HP:0000496	HP:0000496	Abnormality of eye movement	0	LARGE1 CL E G H	9215	6511	ORPHA:370968	Congenital muscular dystrophy with intellectual disability			136
HP:0000496	HP:0000496	Abnormality of eye movement	0	LARGE1 CL E G H	9215	6511	ORPHA:588	Muscle-eye-brain disease			136
HP:0000496	HP:0000496	Abnormality of eye movement	0	LARGE1 CL E G H	9215	6511	OMIM:608840	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6			136
HP:0000496	HP:0000496	Abnormality of eye movement	0	LARP7 CL E G H	51574	24912	ORPHA:319671	Alazami syndrome			16
HP:0000496	HP:0000496	Abnormality of eye movement	0	LARS2 CL E G H	23395	17095	OMIM:615300	Perrault syndrome 4			54
HP:0000496	HP:0000496	Abnormality of eye movement	0	LBR CL E G H	3930	6518	OMIM:169400	Pelger-Huet anomaly			70
HP:0000496	HP:0000496	Abnormality of eye movement	0	LCA5 CL E G H	167691	31923	ORPHA:65	Leber congenital amaurosis			70
HP:0000496	HP:0000496	Abnormality of eye movement	0	LCA5 CL E G H	167691	31923	OMIM:604537	Leber congenital amaurosis 5			70
HP:0000496	HP:0000496	Abnormality of eye movement	0	LCA5 CL E G H	167691	31923	ORPHA:364055	Severe early-childhood-onset retinal dystrophy			70
HP:0000496	HP:0000496	Abnormality of eye movement	0	LEMD3 CL E G H	23592	28887	ORPHA:1306	Buschke-Ollendorff syndrome			68
HP:0000496	HP:0000496	Abnormality of eye movement	0	LETM1 CL E G H	3954	6556	OMIM:620089				2
HP:0000496	HP:0000496	Abnormality of eye movement	0	LETM1 CL E G H	3954	6556	OMIM:194190	Wolf-Hirschhorn syndrome			2
HP:0000496	HP:0000496	Abnormality of eye movement	0	LETM1 CL E G H	3954	6556	ORPHA:280	Wolf-Hirschhorn syndrome			2
HP:0000496	HP:0000496	Abnormality of eye movement	0	LGI4 CL E G H	163175	18712	OMIM:617468	Arthrogryposis multiplex congenita, neurogenic, with myelin defect			6
HP:0000496	HP:0000496	Abnormality of eye movement	0	LIG3 CL E G H	3980	6600	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy			1
HP:0000496	HP:0000496	Abnormality of eye movement	0	LIG4 CL E G H	3981	6601	ORPHA:235	Dubowitz syndrome			88
HP:0000496	HP:0000496	Abnormality of eye movement	0	LIM2 CL E G H	3982	6610	OMIM:615277	Cataract 19, multiple types			16
HP:0000496	HP:0000496	Abnormality of eye movement	0	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome
HP:0000496	HP:0000496	Abnormality of eye movement	0	LIPH CL E G H	200879	18483	ORPHA:170	Woolly hair			12
HP:0000496	HP:0000496	Abnormality of eye movement	0	LIPT1 CL E G H	51601	29569	ORPHA:255241	Leigh syndrome with leukodystrophy			21
HP:0000496	HP:0000496	Abnormality of eye movement	0	LMBRD2 CL E G H	92255	25287	OMIM:619694	DEVELOPMENTAL DELAY WITH VARIABLE NEUROLOGIC AND BRAIN ABNORMALITIES; DENBA
HP:0000496	HP:0000496	Abnormality of eye movement	0	LMNB1 CL E G H	4001	6637	ORPHA:99027	Adult-onset autosomal dominant leukodystrophy	HP:0040283 - Occasional		44
HP:0000496	HP:0000496	Abnormality of eye movement	0	LMNB1 CL E G H	4001	6637	ORPHA:2514	Autosomal dominant primary microcephaly			44
HP:0000496	HP:0000496	Abnormality of eye movement	0	LMNB1 CL E G H	4001	6637	OMIM:169500	Leukodystrophy, adult-onset, autosomal dominant			44
HP:0000496	HP:0000496	Abnormality of eye movement	0	LMOD3 CL E G H	56203	6649	OMIM:616165	Nemaline myopathy 10			11
HP:0000496	HP:0000496	Abnormality of eye movement	0	LMOD3 CL E G H	56203	6649	ORPHA:171430	Severe congenital nemaline myopathy			11
HP:0000496	HP:0000496	Abnormality of eye movement	0	LMX1B CL E G H	4010	6654	ORPHA:495818	9q33.3q34.11 microdeletion syndrome			165
HP:0000496	HP:0000496	Abnormality of eye movement	0	LOC111365204 CL E G H	111365204		OMIM:600790	Chorioretinal atrophy, progressive bifocal
HP:0000496	HP:0000496	Abnormality of eye movement	0	LONP1 CL E G H	9361	9479	ORPHA:1458	CODAS syndrome			8
HP:0000496	HP:0000496	Abnormality of eye movement	0	LPAR6 CL E G H	10161	15520	ORPHA:170	Woolly hair			8
HP:0000496	HP:0000496	Abnormality of eye movement	0	LRAT CL E G H	9227	6685	ORPHA:65	Leber congenital amaurosis			62
HP:0000496	HP:0000496	Abnormality of eye movement	0	LRAT CL E G H	9227	6685	OMIM:613341	Leber congenital amaurosis 14			62
HP:0000496	HP:0000496	Abnormality of eye movement	0	LRAT CL E G H	9227	6685	ORPHA:791	Retinitis pigmentosa			62
HP:0000496	HP:0000496	Abnormality of eye movement	0	LRAT CL E G H	9227	6685	ORPHA:364055	Severe early-childhood-onset retinal dystrophy			62
HP:0000496	HP:0000496	Abnormality of eye movement	0	LRIT3 CL E G H	345193	24783	ORPHA:215	Congenital stationary night blindness			54
HP:0000496	HP:0000496	Abnormality of eye movement	0	LRIT3 CL E G H	345193	24783	OMIM:615058	Night blindness, congenital stationary, type 1F			54
HP:0000496	HP:0000496	Abnormality of eye movement	0	LRMDA CL E G H	83938	23405	OMIM:615179	Albinism, oculocutaneous, type V			13
HP:0000496	HP:0000496	Abnormality of eye movement	0	LRP12 CL E G H	29967	31708	OMIM:164310	Oculopharyngodistal myopathy 1
HP:0000496	HP:0000496	Abnormality of eye movement	0	LRP4 CL E G H	4038	6696	ORPHA:3258	Cenani-Lenz syndrome			124
HP:0000496	HP:0000496	Abnormality of eye movement	0	LRP4 CL E G H	4038	6696	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent		124
HP:0000496	HP:0000496	Abnormality of eye movement	0	LRP5 CL E G H	4041	6697	ORPHA:2790	Endosteal hyperostosis, Worth type			125
HP:0000496	HP:0000496	Abnormality of eye movement	0	LRP5 CL E G H	4041	6697	OMIM:133780	Exudative vitreoretinopathy 1			125
HP:0000496	HP:0000496	Abnormality of eye movement	0	LRP5 CL E G H	4041	6697	OMIM:601813	Exudative vitreoretinopathy 4			125
HP:0000496	HP:0000496	Abnormality of eye movement	0	LRP5 CL E G H	4041	6697	ORPHA:2788	Osteoporosis-pseudoglioma syndrome			125
HP:0000496	HP:0000496	Abnormality of eye movement	0	LRPPRC CL E G H	10128	15714	OMIM:220111	Leigh syndrome, french Canadian type			191
HP:0000496	HP:0000496	Abnormality of eye movement	0	LRRC32 CL E G H	2615	4161	OMIM:619074	CLEFT PALATE, PROLIFERATIVE RETINOPATHY, AND DEVELOPMENTAL DELAY; CPPRDD
HP:0000496	HP:0000496	Abnormality of eye movement	0	LSM11 CL E G H	134353	30860	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional
HP:0000496	HP:0000496	Abnormality of eye movement	0	LSM11 CL E G H	134353	30860	OMIM:619486	AICARDI-GOUTIERES SYNDROME 8; AGS8
HP:0000496	HP:0000496	Abnormality of eye movement	0	LUZP1 CL E G H	7798	14985	ORPHA:1606	1p36 deletion syndrome
HP:0000496	HP:0000496	Abnormality of eye movement	0	LYRM7 CL E G H	90624	28072	OMIM:615838	Mitochondrial complex III deficiency, nuclear type 8			10
HP:0000496	HP:0000496	Abnormality of eye movement	0	LYST CL E G H	1130	1968	ORPHA:167	Chédiak-Higashi syndrome			239
HP:0000496	HP:0000496	Abnormality of eye movement	0	LYST CL E G H	1130	1968	OMIM:214500	Chediak-Higashi syndrome			239
HP:0000496	HP:0000496	Abnormality of eye movement	0	LZTFL1 CL E G H	54585	6741	ORPHA:110	Bardet-Biedl syndrome			4
HP:0000496	HP:0000496	Abnormality of eye movement	0	LZTR1 CL E G H	8216	6742	ORPHA:648	Noonan syndrome			43
HP:0000496	HP:0000496	Abnormality of eye movement	0	MAB21L1 CL E G H	4081	6757	OMIM:618479	Cerebellar, ocular, craniofacial, and genital syndrome
HP:0000496	HP:0000496	Abnormality of eye movement	0	MAB21L2 CL E G H	10586	6758	OMIM:615877	Microphthalmia/coloboma and skeletal dysplasia syndrome			5
HP:0000496	HP:0000496	Abnormality of eye movement	0	MACF1 CL E G H	23499	13664	OMIM:618325	Lissencephaly 9 with complex brainstem malformation			2
HP:0000496	HP:0000496	Abnormality of eye movement	0	MACF1 CL E G H	23499	13664	ORPHA:572013	Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome			2
HP:0000496	HP:0000496	Abnormality of eye movement	0	MAD2L2 CL E G H	10459	6764	ORPHA:84	Fanconi anemia			1
HP:0000496	HP:0000496	Abnormality of eye movement	0	MADD CL E G H	8567	6766	OMIM:619004	DEEAH SYNDROME; DEEAH			5
HP:0000496	HP:0000496	Abnormality of eye movement	0	MADD CL E G H	8567	6766	OMIM:619005	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA; NEDDISH			5
HP:0000496	HP:0000496	Abnormality of eye movement	0	MAF CL E G H	4094	6776	ORPHA:1377	Cataract-microcornea syndrome			21
HP:0000496	HP:0000496	Abnormality of eye movement	0	MAFB CL E G H	9935	6408	ORPHA:233	Duane retraction syndrome	HP:0040281 - Very frequent		63
HP:0000496	HP:0000496	Abnormality of eye movement	0	MAFB CL E G H	9935	6408	OMIM:617041	Duane retraction syndrome 3 with or without deafness			63
HP:0000496	HP:0000496	Abnormality of eye movement	0	MAG CL E G H	4099	6783	ORPHA:459056	Autosomal recessive spastic paraplegia type 75			4
HP:0000496	HP:0000496	Abnormality of eye movement	0	MAG CL E G H	4099	6783	OMIM:616680	Spastic paraplegia 75, autosomal recessive			4
HP:0000496	HP:0000496	Abnormality of eye movement	0	MAGEL2 CL E G H	54551	6814	ORPHA:398069	MAGEL2-related Prader-Willi-like syndrome			63
HP:0000496	HP:0000496	Abnormality of eye movement	0	MAGEL2 CL E G H	54551	6814	OMIM:176270	Prader-Willi syndrome			63
HP:0000496	HP:0000496	Abnormality of eye movement	0	MAGEL2 CL E G H	54551	6814	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15			63
HP:0000496	HP:0000496	Abnormality of eye movement	0	MAGEL2 CL E G H	54551	6814	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1			63
HP:0000496	HP:0000496	Abnormality of eye movement	0	MAGEL2 CL E G H	54551	6814	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2			63
HP:0000496	HP:0000496	Abnormality of eye movement	0	MAGEL2 CL E G H	54551	6814	OMIM:615547	Schaaf-Yang syndrome			63
HP:0000496	HP:0000496	Abnormality of eye movement	0	MAK CL E G H	4117	6816	ORPHA:791	Retinitis pigmentosa			53
HP:0000496	HP:0000496	Abnormality of eye movement	0	MAN1B1 CL E G H	11253	6823	OMIM:614202	Rafiq syndrome			93
HP:0000496	HP:0000496	Abnormality of eye movement	0	MAN2B1 CL E G H	4125	6826	OMIM:248500	Alpha-mannosidosis			136
HP:0000496	HP:0000496	Abnormality of eye movement	0	MAN2B1 CL E G H	4125	6826	ORPHA:309282	Alpha-mannosidosis, infantile form			136
HP:0000496	HP:0000496	Abnormality of eye movement	0	MAP2K1 CL E G H	5604	6840	ORPHA:1340	Cardiofaciocutaneous syndrome			134
HP:0000496	HP:0000496	Abnormality of eye movement	0	MAP2K1 CL E G H	5604	6840	OMIM:615279	Cardiofaciocutaneous syndrome 3			134
HP:0000496	HP:0000496	Abnormality of eye movement	0	MAP2K2 CL E G H	5605	6842	ORPHA:1340	Cardiofaciocutaneous syndrome			178
HP:0000496	HP:0000496	Abnormality of eye movement	0	MAP2K2 CL E G H	5605	6842	OMIM:615280	Cardiofaciocutaneous syndrome 4			178
HP:0000496	HP:0000496	Abnormality of eye movement	0	MAP3K20 CL E G H	51776	17797	ORPHA:2020	Congenital fiber-type disproportion myopathy			2
HP:0000496	HP:0000496	Abnormality of eye movement	0	MAP3K7 CL E G H	6885	6859	OMIM:157800	Cardiospondylocarpofacial syndrome			11
HP:0000496	HP:0000496	Abnormality of eye movement	0	MAPK1 CL E G H	5594	6871	ORPHA:261330	Distal 22q11.2 microdeletion syndrome			2
HP:0000496	HP:0000496	Abnormality of eye movement	0	MAPK8IP3 CL E G H	23162	6884	OMIM:618443	Neurodevelopmental disorder with or without variable brain abnormalities
HP:0000496	HP:0000496	Abnormality of eye movement	0	MAPKAPK5 CL E G H	8550	6889	OMIM:619869
HP:0000496	HP:0000496	Abnormality of eye movement	0	MAPRE2 CL E G H	10982	6891	OMIM:616734	Skin creases, congenital symmetric circumferential, 2			4
HP:0000496	HP:0000496	Abnormality of eye movement	0	MAPT CL E G H	4137	6893	ORPHA:240071	Classic progressive supranuclear palsy syndrome			140
HP:0000496	HP:0000496	Abnormality of eye movement	0	MAPT CL E G H	4137	6893	ORPHA:240103	Progressive supranuclear palsy-corticobasal syndrome			140
HP:0000496	HP:0000496	Abnormality of eye movement	0	MAPT CL E G H	4137	6893	ORPHA:240085	Progressive supranuclear palsy-parkinsonism syndrome	HP:0040282 - Frequent		140
HP:0000496	HP:0000496	Abnormality of eye movement	0	MAPT CL E G H	4137	6893	ORPHA:240112	Progressive supranuclear palsy-progressive non-fluent aphasia syndrome			140
HP:0000496	HP:0000496	Abnormality of eye movement	0	MAPT CL E G H	4137	6893	ORPHA:240094	Progressive supranuclear palsy-pure akinesia with gait freezing syndrome			140
HP:0000496	HP:0000496	Abnormality of eye movement	0	MAPT CL E G H	4137	6893	OMIM:260540	Supranuclear palsy, progressive atypical			140
HP:0000496	HP:0000496	Abnormality of eye movement	0	MAPT CL E G H	4137	6893	OMIM:601104	Supranuclear palsy, progressive, 1			140
HP:0000496	HP:0000496	Abnormality of eye movement	0	MARS2 CL E G H	92935	25133	ORPHA:314603	Autosomal recessive spastic ataxia with leukoencephalopathy			25
HP:0000496	HP:0000496	Abnormality of eye movement	0	MARS2 CL E G H	92935	25133	OMIM:611390	Spastic ataxia 3, autosomal recessive			25
HP:0000496	HP:0000496	Abnormality of eye movement	0	MASP1 CL E G H	5648	6901	OMIM:257920	3mc syndrome 1	.		21
HP:0000496	HP:0000496	Abnormality of eye movement	0	MAST1 CL E G H	22983	19034	OMIM:618273	Mega-Corpus-Callosum syndrome with cerebellar hypoplasia and cortical malformations			1
HP:0000496	HP:0000496	Abnormality of eye movement	0	MBD5 CL E G H	55777	20444	OMIM:156200	Mental retardation, autosomal dominant 1			252
HP:0000496	HP:0000496	Abnormality of eye movement	0	MBTPS2 CL E G H	51360	15455	ORPHA:2273	Ichthyosis follicularis-alopecia-photophobia syndrome			22
HP:0000496	HP:0000496	Abnormality of eye movement	0	MC1R CL E G H	4157	6929	OMIM:203200	Albinism, oculocutaneous, type II			124
HP:0000496	HP:0000496	Abnormality of eye movement	0	MC1R CL E G H	4157	6929	ORPHA:79432	Oculocutaneous albinism type 2			124
HP:0000496	HP:0000496	Abnormality of eye movement	0	MCM3AP CL E G H	8888	6946	OMIM:618124	Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development	HP:0040284 - Very rare		3
HP:0000496	HP:0000496	Abnormality of eye movement	0	MCOLN1 CL E G H	57192	13356	OMIM:252650	Mucolipidosis IV			78
HP:0000496	HP:0000496	Abnormality of eye movement	0	MCOLN1 CL E G H	57192	13356	ORPHA:578	Mucolipidosis type IV			78
HP:0000496	HP:0000496	Abnormality of eye movement	0	MCTP2 CL E G H	55784	25636	ORPHA:1596	Distal monosomy 15q			3
HP:0000496	HP:0000496	Abnormality of eye movement	0	MDH2 CL E G H	4191	6971	OMIM:617339	Epileptic encephalopathy, early infantile, 51			4
HP:0000496	HP:0000496	Abnormality of eye movement	0	MECR CL E G H	51102	19691	OMIM:617282	Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities	.		6
HP:0000496	HP:0000496	Abnormality of eye movement	0	MECR CL E G H	51102	19691	ORPHA:508093	MEPAN syndrome			6
HP:0000496	HP:0000496	Abnormality of eye movement	0	MED12 CL E G H	9968	11957	ORPHA:93932	FG syndrome type 1			228
HP:0000496	HP:0000496	Abnormality of eye movement	0	MED12 CL E G H	9968	11957	OMIM:301068	HARDIKAR SYNDROME; HDKR			228
HP:0000496	HP:0000496	Abnormality of eye movement	0	MED12 CL E G H	9968	11957	OMIM:300895	Ohdo syndrome, X-linked			228
HP:0000496	HP:0000496	Abnormality of eye movement	0	MED12 CL E G H	9968	11957	OMIM:305450	Opitz-Kaveggia syndrome			228
HP:0000496	HP:0000496	Abnormality of eye movement	0	MED12L CL E G H	116931	16050	OMIM:618872	NIZON-ISIDOR SYNDROME; NIZIDS
HP:0000496	HP:0000496	Abnormality of eye movement	0	MED13 CL E G H	9969	22474	OMIM:618009	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 61; MRD61			4
HP:0000496	HP:0000496	Abnormality of eye movement	0	MED13L CL E G H	23389	22962	OMIM:616789	Mental retardation and distinctive facial features with or without cardiac defects			74
HP:0000496	HP:0000496	Abnormality of eye movement	0	MED25 CL E G H	81857	28845	OMIM:616449	Basel-Vanagaite-Smirin-Yosef syndrome			43
HP:0000496	HP:0000496	Abnormality of eye movement	0	MED25 CL E G H	81857	28845	ORPHA:464738	Basel-Vanagaite-Smirin-Yosef syndrome			43
HP:0000496	HP:0000496	Abnormality of eye movement	0	MEF2C CL E G H	4208	6996	ORPHA:228384	5q14.3 microdeletion syndrome			132
HP:0000496	HP:0000496	Abnormality of eye movement	0	MEG3 CL E G H	55384	14575	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion			1
HP:0000496	HP:0000496	Abnormality of eye movement	0	MEN1 CL E G H	4221	7010	ORPHA:2965	Prolactinoma			462
HP:0000496	HP:0000496	Abnormality of eye movement	0	MERTK CL E G H	10461	7027	ORPHA:791	Retinitis pigmentosa			75
HP:0000496	HP:0000496	Abnormality of eye movement	0	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome			1
HP:0000496	HP:0000496	Abnormality of eye movement	0	METTL5 CL E G H	29081	25006	OMIM:618665	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 72; MRT72
HP:0000496	HP:0000496	Abnormality of eye movement	0	MFF CL E G H	56947	24858	OMIM:617086	Encephalopathy due to defective mitochondrial and peroxisomal fission 2			17
HP:0000496	HP:0000496	Abnormality of eye movement	0	MFF CL E G H	56947	24858	ORPHA:485421	MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect			17
HP:0000496	HP:0000496	Abnormality of eye movement	0	MFN2 CL E G H	9927	16877	OMIM:601152	Hereditary motor and sensory neuropathy VI			203
HP:0000496	HP:0000496	Abnormality of eye movement	0	MFRP CL E G H	83552	18121	ORPHA:35612	Nanophthalmos			26
HP:0000496	HP:0000496	Abnormality of eye movement	0	MGME1 CL E G H	92667	16205	OMIM:615084	Mitochondrial DNA depletion syndrome 11			11
HP:0000496	HP:0000496	Abnormality of eye movement	0	MGME1 CL E G H	92667	16205	ORPHA:352447	Progressive external ophthalmoplegia-myopathy-emaciation syndrome			11
HP:0000496	HP:0000496	Abnormality of eye movement	0	MICOS13 CL E G H	125988	33702	ORPHA:67047	3-methylglutaconic aciduria type 3
HP:0000496	HP:0000496	Abnormality of eye movement	0	MICU1 CL E G H	10367	1530	ORPHA:401768	Proximal myopathy with extrapyramidal signs			14
HP:0000496	HP:0000496	Abnormality of eye movement	0	MID1 CL E G H	4281	7095	ORPHA:2745	Opitz GBBB syndrome			57
HP:0000496	HP:0000496	Abnormality of eye movement	0	MID2 CL E G H	11043	7096	OMIM:300928	MENTAL RETARDATION, X-LINKED 101; MRX101			7
HP:0000496	HP:0000496	Abnormality of eye movement	0	MINPP1 CL E G H	9562	7102	ORPHA:284339	Pontocerebellar hypoplasia type 7			3
HP:0000496	HP:0000496	Abnormality of eye movement	0	MINPP1 CL E G H	9562	7102	OMIM:619527	PONTOCEREBELLAR HYPOPLASIA, TYPE 16; PCH16			3
HP:0000496	HP:0000496	Abnormality of eye movement	0	MKKS CL E G H	8195	7108	ORPHA:110	Bardet-Biedl syndrome			69
HP:0000496	HP:0000496	Abnormality of eye movement	0	MKRN3 CL E G H	7681	7114	OMIM:176270	Prader-Willi syndrome			5
HP:0000496	HP:0000496	Abnormality of eye movement	0	MKRN3-AS1 CL E G H	10108		OMIM:176270	Prader-Willi syndrome
HP:0000496	HP:0000496	Abnormality of eye movement	0	MKS1 CL E G H	54903	7121	ORPHA:110	Bardet-Biedl syndrome			127
HP:0000496	HP:0000496	Abnormality of eye movement	0	MKS1 CL E G H	54903	7121	ORPHA:475	Joubert syndrome			127
HP:0000496	HP:0000496	Abnormality of eye movement	0	MKS1 CL E G H	54903	7121	OMIM:617121	JOUBERT SYNDROME 28; JBTS28			127
HP:0000496	HP:0000496	Abnormality of eye movement	0	MKS1 CL E G H	54903	7121	ORPHA:220493	Joubert syndrome with ocular defect			127
HP:0000496	HP:0000496	Abnormality of eye movement	0	MKS1 CL E G H	54903	7121	OMIM:249000	Meckel syndrome 1			127
HP:0000496	HP:0000496	Abnormality of eye movement	0	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome			1
HP:0000496	HP:0000496	Abnormality of eye movement	0	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome			1
HP:0000496	HP:0000496	Abnormality of eye movement	0	MMACHC CL E G H	25974	24525	ORPHA:79282	Methylmalonic acidemia with homocystinuria, type cblC			101
HP:0000496	HP:0000496	Abnormality of eye movement	0	MMACHC CL E G H	25974	24525	OMIM:277400	Methylmalonic aciduria and homocystinuria, Cblc type			101
HP:0000496	HP:0000496	Abnormality of eye movement	0	MMADHC CL E G H	27249	25221	OMIM:277410	Methylmalonic aciduria and homocystinuria, Cbld type			50
HP:0000496	HP:0000496	Abnormality of eye movement	0	MME CL E G H	4311	7154	OMIM:617018	SPINOCEREBELLAR ATAXIA 43; SCA43			18
HP:0000496	HP:0000496	Abnormality of eye movement	0	MME CL E G H	4311	7154	ORPHA:497764	Spinocerebellar ataxia type 43			18
HP:0000496	HP:0000496	Abnormality of eye movement	0	MMP23B CL E G H	8510	7171	ORPHA:1606	1p36 deletion syndrome
HP:0000496	HP:0000496	Abnormality of eye movement	0	MN1 CL E G H	4330	7180	OMIM:618774	CEBALID SYNDROME; CEBALID			1
HP:0000496	HP:0000496	Abnormality of eye movement	0	MOCS1 CL E G H	4337	7190	OMIM:252150	Molybdenum cofactor deficiency, complementation group A			96
HP:0000496	HP:0000496	Abnormality of eye movement	0	MOCS2 CL E G H	4338	7193	OMIM:252160	Molybdenum cofactor deficiency, complementation group B			26
HP:0000496	HP:0000496	Abnormality of eye movement	0	MPC1 CL E G H	51660	21606	OMIM:614741	Mitochondrial pyruvate carrier deficiency			6
HP:0000496	HP:0000496	Abnormality of eye movement	0	MPDU1 CL E G H	9526	7207	OMIM:609180	Congenital disorder of glycosylation, type IF			32
HP:0000496	HP:0000496	Abnormality of eye movement	0	MPDZ CL E G H	8777	7208	OMIM:615219	Hydrocephalus, congenital, 2, with or without brain or eye anomalies			29
HP:0000496	HP:0000496	Abnormality of eye movement	0	MPLKIP CL E G H	136647	16002	ORPHA:33364	Trichothiodystrophy			9
HP:0000496	HP:0000496	Abnormality of eye movement	0	MPLKIP CL E G H	136647	16002	OMIM:234050	Trichothiodystrophy 4, nonphotosensitive			9
HP:0000496	HP:0000496	Abnormality of eye movement	0	MPV17 CL E G H	4358	7224	OMIM:256810	Navajo neurohepatopathy			56
HP:0000496	HP:0000496	Abnormality of eye movement	0	MPZ CL E G H	4359	7225	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas			134
HP:0000496	HP:0000496	Abnormality of eye movement	0	MPZ CL E G H	4359	7225	ORPHA:3115	Roussy-Lévy syndrome			134
HP:0000496	HP:0000496	Abnormality of eye movement	0	MRAS CL E G H	22808	7227	ORPHA:648	Noonan syndrome
HP:0000496	HP:0000496	Abnormality of eye movement	0	MRE11 CL E G H	4361	7230	ORPHA:251347	Ataxia-telangiectasia-like disorder			532
HP:0000496	HP:0000496	Abnormality of eye movement	0	MRE11 CL E G H	4361	7230	OMIM:604391	Ataxia-Telangiectasia-Like disorder 1			532
HP:0000496	HP:0000496	Abnormality of eye movement	0	MRPL12 CL E G H	6182	10378	OMIM:618951	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 45; COXPD45			11
HP:0000496	HP:0000496	Abnormality of eye movement	0	MRPS2 CL E G H	51116	14495	OMIM:617950	Combined oxidative phosphorylation deficiency 36
HP:0000496	HP:0000496	Abnormality of eye movement	0	MRPS34 CL E G H	65993	16618	OMIM:617664	Combined oxidative phosphorylation deficiency 32			1
HP:0000496	HP:0000496	Abnormality of eye movement	0	MTFMT CL E G H	123263	29666	OMIM:614947	Combined oxidative phosphorylation deficiency 15			29
HP:0000496	HP:0000496	Abnormality of eye movement	0	MTFMT CL E G H	123263	29666	ORPHA:255241	Leigh syndrome with leukodystrophy			29
HP:0000496	HP:0000496	Abnormality of eye movement	0	MTFMT CL E G H	123263	29666	OMIM:618248	Mitochondrial complex I deficiency, nuclear type 27			29
HP:0000496	HP:0000496	Abnormality of eye movement	0	MTHFR CL E G H	4524	7436	ORPHA:395	Homocystinuria due to methylene tetrahydrofolate reductase deficiency			183
HP:0000496	HP:0000496	Abnormality of eye movement	0	MTM1 CL E G H	4534	7448	OMIM:310400	Myopathy, centronuclear, X-linked			185
HP:0000496	HP:0000496	Abnormality of eye movement	0	MTMR14 CL E G H	64419	26190	ORPHA:169189	Autosomal dominant centronuclear myopathy			7
HP:0000496	HP:0000496	Abnormality of eye movement	0	MTMR14 CL E G H	64419	26190	OMIM:160150	Myopathy, centronuclear, autosomal dominant			7
HP:0000496	HP:0000496	Abnormality of eye movement	0	MTOR CL E G H	2475	3942	ORPHA:99802	Hemimegalencephaly			68
HP:0000496	HP:0000496	Abnormality of eye movement	0	MTOR CL E G H	2475	3942	ORPHA:457485	Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome			68
HP:0000496	HP:0000496	Abnormality of eye movement	0	MTOR CL E G H	2475	3942	OMIM:616638	Smith-Kingsmore syndrome			68
HP:0000496	HP:0000496	Abnormality of eye movement	0	MTPAP CL E G H	55149	25532	ORPHA:254343	Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome			19
HP:0000496	HP:0000496	Abnormality of eye movement	0	MTPAP CL E G H	55149	25532	OMIM:613672	Spastic ataxia 4, autosomal recessive			19
HP:0000496	HP:0000496	Abnormality of eye movement	0	MTR CL E G H	4548	7468	OMIM:250940	Homocystinuria-megaloblastic anemia, cblg Complementation type			217
HP:0000496	HP:0000496	Abnormality of eye movement	0	MTRFR CL E G H	91574	26784	ORPHA:320375	Autosomal recessive spastic paraplegia type 55
HP:0000496	HP:0000496	Abnormality of eye movement	0	MTRFR CL E G H	91574	26784	ORPHA:254930	Combined oxidative phosphorylation defect type 7
HP:0000496	HP:0000496	Abnormality of eye movement	0	MTRFR CL E G H	91574	26784	OMIM:613559	Combined oxidative phosphorylation deficiency 7
HP:0000496	HP:0000496	Abnormality of eye movement	0	MTRFR CL E G H	91574	26784	OMIM:615035	Spastic paraplegia 55, autosomal recessive
HP:0000496	HP:0000496	Abnormality of eye movement	0	MTRR CL E G H	4552	7473	OMIM:236270	Homocystinuria-megaloblastic anemia, cbl E type			88
HP:0000496	HP:0000496	Abnormality of eye movement	0	MTRR CL E G H	4552	7473	ORPHA:2169	Methylcobalamin deficiency type cblE			88
HP:0000496	HP:0000496	Abnormality of eye movement	0	MTSS2 CL E G H	92154	25094	OMIM:620086
HP:0000496	HP:0000496	Abnormality of eye movement	0	MTTP CL E G H	4547	7467	ORPHA:14	Abetalipoproteinemia			81
HP:0000496	HP:0000496	Abnormality of eye movement	0	MUSK CL E G H	4593	7525	OMIM:616325	Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency			72
HP:0000496	HP:0000496	Abnormality of eye movement	0	MUSK CL E G H	4593	7525	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent		72
HP:0000496	HP:0000496	Abnormality of eye movement	0	MVK CL E G H	4598	7530	OMIM:610377	Mevalonic aciduria			150
HP:0000496	HP:0000496	Abnormality of eye movement	0	MYF5 CL E G H	4617	7565	OMIM:618155	Ophthalmoplegia, external, with rib and vertebral anomalies
HP:0000496	HP:0000496	Abnormality of eye movement	0	MYF6 CL E G H	4618	7566	ORPHA:169189	Autosomal dominant centronuclear myopathy			19
HP:0000496	HP:0000496	Abnormality of eye movement	0	MYH2 CL E G H	4620	7572	OMIM:605637	Myopathy, proximal, and ophthalmoplegia			105
HP:0000496	HP:0000496	Abnormality of eye movement	0	MYH3 CL E G H	4621	7573	OMIM:193700	Arthrogryposis, distal, type 2A			166
HP:0000496	HP:0000496	Abnormality of eye movement	0	MYH3 CL E G H	4621	7573	ORPHA:2990	Autosomal recessive multiple pterygium syndrome			166
HP:0000496	HP:0000496	Abnormality of eye movement	0	MYH3 CL E G H	4621	7573	ORPHA:2053	Freeman-Sheldon syndrome			166
HP:0000496	HP:0000496	Abnormality of eye movement	0	MYH7 CL E G H	4625	7577	OMIM:255310	Myopathy, congenital, with fiber-type disproportion			1269
HP:0000496	HP:0000496	Abnormality of eye movement	0	MYL2 CL E G H	4633	7583	ORPHA:2020	Congenital fiber-type disproportion myopathy			131
HP:0000496	HP:0000496	Abnormality of eye movement	0	MYMK CL E G H	389827	33778	OMIM:254940	Carey-Fineman-Ziter syndrome			5
HP:0000496	HP:0000496	Abnormality of eye movement	0	MYMK CL E G H	389827	33778	ORPHA:1358	Carey-Fineman-Ziter syndrome			5
HP:0000496	HP:0000496	Abnormality of eye movement	0	MYMX CL E G H	101929726	52391	ORPHA:1358	Carey-Fineman-Ziter syndrome
HP:0000496	HP:0000496	Abnormality of eye movement	0	MYO1H CL E G H	283446	13879	OMIM:619482	CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, 2, AND AUTONOMIC DYSFUNCTION; CCHS2
HP:0000496	HP:0000496	Abnormality of eye movement	0	MYO5A CL E G H	4644	7602	ORPHA:79476	Griscelli syndrome type 1			35
HP:0000496	HP:0000496	Abnormality of eye movement	0	MYO5A CL E G H	4644	7602	ORPHA:33445	Neuroectodermal melanolysosomal disease			35
HP:0000496	HP:0000496	Abnormality of eye movement	0	MYO7A CL E G H	4647	7606	ORPHA:231178	Usher syndrome type 2			516
HP:0000496	HP:0000496	Abnormality of eye movement	0	MYO7A CL E G H	4647	7606	OMIM:276900	Usher syndrome, type I			516
HP:0000496	HP:0000496	Abnormality of eye movement	0	MYO9A CL E G H	4649	7608	OMIM:618198	Myasthenic syndrome, congenital, 24, presynaptic
HP:0000496	HP:0000496	Abnormality of eye movement	0	MYO9A CL E G H	4649	7608	ORPHA:98914	Presynaptic congenital myasthenic syndromes
HP:0000496	HP:0000496	Abnormality of eye movement	0	MYOD1 CL E G H	4654	7611	OMIM:618975	MYOPATHY, CONGENITAL, WITH DIAPHRAGMATIC DEFECTS, RESPIRATORY INSUFFICIENCY, AND DYSMORPHIC FACIES; MYODRIF
HP:0000496	HP:0000496	Abnormality of eye movement	0	MYORG CL E G H	57462	19918	OMIM:618317	Basal ganglia calcification, idiopathic, 7, autosomal recessive
HP:0000496	HP:0000496	Abnormality of eye movement	0	NAA10 CL E G H	8260	18704	ORPHA:568	Microphthalmia, Lenz type			23
HP:0000496	HP:0000496	Abnormality of eye movement	0	NADK2 CL E G H	133686	26404	OMIM:616034	2,4-Dienoyl-Coa reductase deficiency	.		14
HP:0000496	HP:0000496	Abnormality of eye movement	0	NADK2 CL E G H	133686	26404	ORPHA:431361	Progressive encephalopathy with leukodystrophy due to DECR deficiency			14
HP:0000496	HP:0000496	Abnormality of eye movement	0	NAGA CL E G H	4668	7631	ORPHA:79279	Alpha-N-acetylgalactosaminidase deficiency type 1			47
HP:0000496	HP:0000496	Abnormality of eye movement	0	NAGA CL E G H	4668	7631	ORPHA:79281	Alpha-N-acetylgalactosaminidase deficiency type 3			47
HP:0000496	HP:0000496	Abnormality of eye movement	0	NAGA CL E G H	4668	7631	OMIM:609241	Schindler disease, type I			47
HP:0000496	HP:0000496	Abnormality of eye movement	0	NALCN CL E G H	259232	19082	OMIM:616266	Congenital contractures of the limbs and face, hypotonia, and developmental delay			48
HP:0000496	HP:0000496	Abnormality of eye movement	0	NALCN CL E G H	259232	19082	ORPHA:2053	Freeman-Sheldon syndrome			48
HP:0000496	HP:0000496	Abnormality of eye movement	0	NALCN CL E G H	259232	19082	OMIM:615419	Hypotonia, infantile, with psychomotor retardation and characteristic facies 1			48
HP:0000496	HP:0000496	Abnormality of eye movement	0	NALCN CL E G H	259232	19082	ORPHA:371364	Hypotonia-speech impairment-severe cognitive delay syndrome			48
HP:0000496	HP:0000496	Abnormality of eye movement	0	NANS CL E G H	54187	19237	OMIM:610442	Spondyloepimetaphyseal dysplasia, Genevieve type			8
HP:0000496	HP:0000496	Abnormality of eye movement	0	NARS2 CL E G H	79731	26274	OMIM:616239	Combined oxidative phosphorylation deficiency 24			34
HP:0000496	HP:0000496	Abnormality of eye movement	0	NAXD CL E G H	55739	25576	OMIM:618321	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2
HP:0000496	HP:0000496	Abnormality of eye movement	0	NAXE CL E G H	128240	18453	OMIM:617186	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1			9
HP:0000496	HP:0000496	Abnormality of eye movement	0	NBAS CL E G H	51594	15625	OMIM:614800	Short stature, optic nerve atrophy, and pelger-huet anomaly			25
HP:0000496	HP:0000496	Abnormality of eye movement	0	NCAPG2 CL E G H	54892	21904	OMIM:618460	Khan-Khan-Katsanis syndrome			2
HP:0000496	HP:0000496	Abnormality of eye movement	0	NCDN CL E G H	23154	17597	OMIM:619373	NEURODEVELOPMENTAL DISORDER WITH INFANTILE EPILEPTIC SPASMS; NEDIES
HP:0000496	HP:0000496	Abnormality of eye movement	0	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome			13
HP:0000496	HP:0000496	Abnormality of eye movement	0	ND1 CL E G H	4535	7455	ORPHA:2609	Isolated complex I deficiency
HP:0000496	HP:0000496	Abnormality of eye movement	0	ND1 CL E G H	4535	7455	ORPHA:550	MELAS
HP:0000496	HP:0000496	Abnormality of eye movement	0	ND1 CL E G H	4535	7455	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0000496	HP:0000496	Abnormality of eye movement	0	ND1 CL E G H	4535	7455	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0000496	HP:0000496	Abnormality of eye movement	0	ND2 CL E G H	4536	7456	ORPHA:2609	Isolated complex I deficiency
HP:0000496	HP:0000496	Abnormality of eye movement	0	ND2 CL E G H	4536	7456	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0000496	HP:0000496	Abnormality of eye movement	0	ND3 CL E G H	4537	7458	ORPHA:2609	Isolated complex I deficiency
HP:0000496	HP:0000496	Abnormality of eye movement	0	ND3 CL E G H	4537	7458	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0000496	HP:0000496	Abnormality of eye movement	0	ND4 CL E G H	4538	7459	ORPHA:550	MELAS
HP:0000496	HP:0000496	Abnormality of eye movement	0	ND4 CL E G H	4538	7459	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0000496	HP:0000496	Abnormality of eye movement	0	ND5 CL E G H	4540	7461	ORPHA:550	MELAS
HP:0000496	HP:0000496	Abnormality of eye movement	0	ND5 CL E G H	4540	7461	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0000496	HP:0000496	Abnormality of eye movement	0	ND5 CL E G H	4540	7461	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0000496	HP:0000496	Abnormality of eye movement	0	ND6 CL E G H	4541	7462	ORPHA:550	MELAS
HP:0000496	HP:0000496	Abnormality of eye movement	0	ND6 CL E G H	4541	7462	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0000496	HP:0000496	Abnormality of eye movement	0	ND6 CL E G H	4541	7462	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0000496	HP:0000496	Abnormality of eye movement	0	NDN CL E G H	4692	7675	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
HP:0000496	HP:0000496	Abnormality of eye movement	0	NDN CL E G H	4692	7675	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
HP:0000496	HP:0000496	Abnormality of eye movement	0	NDN CL E G H	4692	7675	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
HP:0000496	HP:0000496	Abnormality of eye movement	0	NDNF CL E G H	79625	26256	ORPHA:478	Kallmann syndrome
HP:0000496	HP:0000496	Abnormality of eye movement	0	NDP CL E G H	4693	7678	ORPHA:190	Coats disease			39
HP:0000496	HP:0000496	Abnormality of eye movement	0	NDP CL E G H	4693	7678	OMIM:305390	Exudative vitreoretinopathy 2, X-linked			39
HP:0000496	HP:0000496	Abnormality of eye movement	0	NDP CL E G H	4693	7678	ORPHA:649	Norrie disease			39
HP:0000496	HP:0000496	Abnormality of eye movement	0	NDP CL E G H	4693	7678	ORPHA:91495	Persistent hyperplastic primary vitreous			39
HP:0000496	HP:0000496	Abnormality of eye movement	0	NDST1 CL E G H	3340	7680	OMIM:616116	Mental retardation, autosomal recessive 46			27
HP:0000496	HP:0000496	Abnormality of eye movement	0	NDUFA1 CL E G H	4694	7683	ORPHA:2609	Isolated complex I deficiency			7
HP:0000496	HP:0000496	Abnormality of eye movement	0	NDUFA1 CL E G H	4694	7683	OMIM:301020	Mitochondrial complex I deficiency, nuclear type 12			7
HP:0000496	HP:0000496	Abnormality of eye movement	0	NDUFA10 CL E G H	4705	7684	ORPHA:255241	Leigh syndrome with leukodystrophy			91
HP:0000496	HP:0000496	Abnormality of eye movement	0	NDUFA11 CL E G H	126328	20371	ORPHA:2609	Isolated complex I deficiency			32
HP:0000496	HP:0000496	Abnormality of eye movement	0	NDUFA11 CL E G H	126328	20371	OMIM:618236	Mitochondrial complex I deficiency, nuclear type 14			32
HP:0000496	HP:0000496	Abnormality of eye movement	0	NDUFA12 CL E G H	55967	23987	ORPHA:255241	Leigh syndrome with leukodystrophy			7
HP:0000496	HP:0000496	Abnormality of eye movement	0	NDUFA13 CL E G H	51079	17194	ORPHA:255241	Leigh syndrome with leukodystrophy			3
HP:0000496	HP:0000496	Abnormality of eye movement	0	NDUFA13 CL E G H	51079	17194	OMIM:618249	Mitochondrial complex I deficiency, nuclear type 28	.		3
HP:0000496	HP:0000496	Abnormality of eye movement	0	NDUFA2 CL E G H	4695	7685	ORPHA:255241	Leigh syndrome with leukodystrophy			19
HP:0000496	HP:0000496	Abnormality of eye movement	0	NDUFA4 CL E G H	4697	7687	ORPHA:255241	Leigh syndrome with leukodystrophy			4
HP:0000496	HP:0000496	Abnormality of eye movement	0	NDUFA6 CL E G H	4700	7690	ORPHA:2609	Isolated complex I deficiency			1
HP:0000496	HP:0000496	Abnormality of eye movement	0	NDUFA9 CL E G H	4704	7693	ORPHA:255241	Leigh syndrome with leukodystrophy			27
HP:0000496	HP:0000496	Abnormality of eye movement	0	NDUFAF1 CL E G H	51103	18828	ORPHA:2609	Isolated complex I deficiency			40
HP:0000496	HP:0000496	Abnormality of eye movement	0	NDUFAF2 CL E G H	91942	28086	ORPHA:2609	Isolated complex I deficiency			26
HP:0000496	HP:0000496	Abnormality of eye movement	0	NDUFAF2 CL E G H	91942	28086	ORPHA:255241	Leigh syndrome with leukodystrophy			26
HP:0000496	HP:0000496	Abnormality of eye movement	0	NDUFAF2 CL E G H	91942	28086	OMIM:618233	Mitochondrial complex I deficiency, nuclear type 10			26
HP:0000496	HP:0000496	Abnormality of eye movement	0	NDUFAF3 CL E G H	25915	29918	ORPHA:2609	Isolated complex I deficiency			31
HP:0000496	HP:0000496	Abnormality of eye movement	0	NDUFAF3 CL E G H	25915	29918	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040282 - Frequent		31
HP:0000496	HP:0000496	Abnormality of eye movement	0	NDUFAF4 CL E G H	29078	21034	ORPHA:2609	Isolated complex I deficiency			50
HP:0000496	HP:0000496	Abnormality of eye movement	0	NDUFAF4 CL E G H	29078	21034	OMIM:618237	Mitochondrial complex I deficiency, nuclear type 15			50
HP:0000496	HP:0000496	Abnormality of eye movement	0	NDUFAF5 CL E G H	79133	15899	ORPHA:2609	Isolated complex I deficiency			34
HP:0000496	HP:0000496	Abnormality of eye movement	0	NDUFAF5 CL E G H	79133	15899	ORPHA:255241	Leigh syndrome with leukodystrophy			34
HP:0000496	HP:0000496	Abnormality of eye movement	0	NDUFAF5 CL E G H	79133	15899	OMIM:618238	Mitochondrial complex I deficiency, nuclear type 16			34
HP:0000496	HP:0000496	Abnormality of eye movement	0	NDUFAF6 CL E G H	137682	28625	ORPHA:255241	Leigh syndrome with leukodystrophy			39
HP:0000496	HP:0000496	Abnormality of eye movement	0	NDUFAF8 CL E G H	284184	33551	ORPHA:2609	Isolated complex I deficiency
HP:0000496	HP:0000496	Abnormality of eye movement	0	NDUFB10 CL E G H	4716	7696	ORPHA:2609	Isolated complex I deficiency
HP:0000496	HP:0000496	Abnormality of eye movement	0	NDUFB11 CL E G H	54539	20372	ORPHA:2609	Isolated complex I deficiency			3
HP:0000496	HP:0000496	Abnormality of eye movement	0	NDUFB11 CL E G H	54539	20372	OMIM:300952	Linear skin defects with multiple congenital anomalies 3			3
HP:0000496	HP:0000496	Abnormality of eye movement	0	NDUFB3 CL E G H	4709	7698	ORPHA:2609	Isolated complex I deficiency			9
HP:0000496	HP:0000496	Abnormality of eye movement	0	NDUFB8 CL E G H	4714	7703	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040282 - Frequent
HP:0000496	HP:0000496	Abnormality of eye movement	0	NDUFB9 CL E G H	4715	7704	ORPHA:2609	Isolated complex I deficiency			16
HP:0000496	HP:0000496	Abnormality of eye movement	0	NDUFS1 CL E G H	4719	7707	ORPHA:2609	Isolated complex I deficiency			81
HP:0000496	HP:0000496	Abnormality of eye movement	0	NDUFS1 CL E G H	4719	7707	ORPHA:255241	Leigh syndrome with leukodystrophy			81
HP:0000496	HP:0000496	Abnormality of eye movement	0	NDUFS1 CL E G H	4719	7707	OMIM:618226	Mitochondrial complex I deficiency, nuclear type 5			81
HP:0000496	HP:0000496	Abnormality of eye movement	0	NDUFS2 CL E G H	4720	7708	ORPHA:2609	Isolated complex I deficiency			65
HP:0000496	HP:0000496	Abnormality of eye movement	0	NDUFS2 CL E G H	4720	7708	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040282 - Frequent		65
HP:0000496	HP:0000496	Abnormality of eye movement	0	NDUFS2 CL E G H	4720	7708	ORPHA:255241	Leigh syndrome with leukodystrophy			65
HP:0000496	HP:0000496	Abnormality of eye movement	0	NDUFS2 CL E G H	4720	7708	OMIM:618228	Mitochondrial complex I deficiency, nuclear type 6			65
HP:0000496	HP:0000496	Abnormality of eye movement	0	NDUFS3 CL E G H	4722	7710	ORPHA:2609	Isolated complex I deficiency			22
HP:0000496	HP:0000496	Abnormality of eye movement	0	NDUFS3 CL E G H	4722	7710	ORPHA:255241	Leigh syndrome with leukodystrophy			22
HP:0000496	HP:0000496	Abnormality of eye movement	0	NDUFS4 CL E G H	4724	7711	ORPHA:2609	Isolated complex I deficiency			27
HP:0000496	HP:0000496	Abnormality of eye movement	0	NDUFS4 CL E G H	4724	7711	ORPHA:255241	Leigh syndrome with leukodystrophy			27
HP:0000496	HP:0000496	Abnormality of eye movement	0	NDUFS4 CL E G H	4724	7711	OMIM:252010	Mitochondrial complex I deficiency, nuclear type 1			27
HP:0000496	HP:0000496	Abnormality of eye movement	0	NDUFS6 CL E G H	4726	7713	ORPHA:2609	Isolated complex I deficiency			21
HP:0000496	HP:0000496	Abnormality of eye movement	0	NDUFS6 CL E G H	4726	7713	OMIM:618232	Mitochondrial complex I deficiency, nuclear type 9			21
HP:0000496	HP:0000496	Abnormality of eye movement	0	NDUFS7 CL E G H	374291	7714	ORPHA:2609	Isolated complex I deficiency			38
HP:0000496	HP:0000496	Abnormality of eye movement	0	NDUFS7 CL E G H	374291	7714	ORPHA:255241	Leigh syndrome with leukodystrophy			38
HP:0000496	HP:0000496	Abnormality of eye movement	0	NDUFS8 CL E G H	4728	7715	ORPHA:2609	Isolated complex I deficiency			42
HP:0000496	HP:0000496	Abnormality of eye movement	0	NDUFS8 CL E G H	4728	7715	ORPHA:255241	Leigh syndrome with leukodystrophy			42
HP:0000496	HP:0000496	Abnormality of eye movement	0	NDUFS8 CL E G H	4728	7715	OMIM:618222	Mitochondrial complex I deficiency, nuclear type 2			42
HP:0000496	HP:0000496	Abnormality of eye movement	0	NDUFV1 CL E G H	4723	7716	ORPHA:2609	Isolated complex I deficiency			74
HP:0000496	HP:0000496	Abnormality of eye movement	0	NDUFV1 CL E G H	4723	7716	ORPHA:255241	Leigh syndrome with leukodystrophy			74
HP:0000496	HP:0000496	Abnormality of eye movement	0	NDUFV1 CL E G H	4723	7716	OMIM:618225	Mitochondrial complex I deficiency, nuclear type 4			74
HP:0000496	HP:0000496	Abnormality of eye movement	0	NDUFV2 CL E G H	4729	7717	ORPHA:2609	Isolated complex I deficiency			27
HP:0000496	HP:0000496	Abnormality of eye movement	0	NDUFV2 CL E G H	4729	7717	ORPHA:255241	Leigh syndrome with leukodystrophy			27
HP:0000496	HP:0000496	Abnormality of eye movement	0	NDUFV2 CL E G H	4729	7717	OMIM:618229	Mitochondrial complex I deficiency, nuclear type 7			27
HP:0000496	HP:0000496	Abnormality of eye movement	0	NEB CL E G H	4703	7720	ORPHA:171433	Intermediate nemaline myopathy			745
HP:0000496	HP:0000496	Abnormality of eye movement	0	NEB CL E G H	4703	7720	ORPHA:171430	Severe congenital nemaline myopathy			745
HP:0000496	HP:0000496	Abnormality of eye movement	0	NECAP1 CL E G H	25977	24539	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			1
HP:0000496	HP:0000496	Abnormality of eye movement	0	NEDD4L CL E G H	23327	7728	OMIM:617201	Periventricular nodular heterotopia 7			30
HP:0000496	HP:0000496	Abnormality of eye movement	0	NEFL CL E G H	4747	7739	OMIM:617882	Charcot-Marie-Tooth disease, dominant intermediate G			118
HP:0000496	HP:0000496	Abnormality of eye movement	0	NEK2 CL E G H	4751	7745	ORPHA:791	Retinitis pigmentosa			5
HP:0000496	HP:0000496	Abnormality of eye movement	0	NEK9 CL E G H	91754	18591	OMIM:614262	Arthrogryposis, perthes disease, and upward gaze palsy			9
HP:0000496	HP:0000496	Abnormality of eye movement	0	NELFA CL E G H	7469	12768	ORPHA:280	Wolf-Hirschhorn syndrome
HP:0000496	HP:0000496	Abnormality of eye movement	0	NEU1 CL E G H	4758	7758	ORPHA:93400	Congenital sialidosis type 2			43
HP:0000496	HP:0000496	Abnormality of eye movement	0	NEU1 CL E G H	4758	7758	ORPHA:93399	Juvenile sialidosis type 2			43
HP:0000496	HP:0000496	Abnormality of eye movement	0	NEU1 CL E G H	4758	7758	OMIM:256550	Neuraminidase deficiency			43
HP:0000496	HP:0000496	Abnormality of eye movement	0	NEU1 CL E G H	4758	7758	ORPHA:812	Sialidosis type 1			43
HP:0000496	HP:0000496	Abnormality of eye movement	0	NEUROD2 CL E G H	4761	7763	ORPHA:1934	Early infantile epileptic encephalopathy
HP:0000496	HP:0000496	Abnormality of eye movement	0	NEUROD2 CL E G H	4761	7763	OMIM:618374	Epileptic encephalopathy, early infantile, 72
HP:0000496	HP:0000496	Abnormality of eye movement	0	NEXMIF CL E G H	340533	29433	OMIM:300912	Mental retardation, X-linked 98			52
HP:0000496	HP:0000496	Abnormality of eye movement	0	NEXMIF CL E G H	340533	29433	ORPHA:85277	X-linked intellectual disability, Cantagrel type			52
HP:0000496	HP:0000496	Abnormality of eye movement	0	NF1 CL E G H	4763	7765	ORPHA:97685	17q11 microdeletion syndrome			1952
HP:0000496	HP:0000496	Abnormality of eye movement	0	NF2 CL E G H	4771	7773	ORPHA:2495	Meningioma			220
HP:0000496	HP:0000496	Abnormality of eye movement	0	NFIX CL E G H	4784	7788	ORPHA:447980	19p13.3 microduplication syndrome			40
HP:0000496	HP:0000496	Abnormality of eye movement	0	NFIX CL E G H	4784	7788	ORPHA:420179	Malan overgrowth syndrome			40
HP:0000496	HP:0000496	Abnormality of eye movement	0	NFIX CL E G H	4784	7788	OMIM:614753	Sotos syndrome 2			40
HP:0000496	HP:0000496	Abnormality of eye movement	0	NGLY1 CL E G H	55768	17646	ORPHA:404454	Alacrimia-choreoathetosis-liver dysfunction syndrome			32
HP:0000496	HP:0000496	Abnormality of eye movement	0	NGLY1 CL E G H	55768	17646	OMIM:615273	Congenital disorder of deglycosylation			32
HP:0000496	HP:0000496	Abnormality of eye movement	0	NHLRC2 CL E G H	374354	24731	OMIM:618278	Fibrosis, neurodegeneration, and cerebral angiomatosis
HP:0000496	HP:0000496	Abnormality of eye movement	0	NHS CL E G H	4810	7820	OMIM:302350	Nance-Horan syndrome			88
HP:0000496	HP:0000496	Abnormality of eye movement	0	NHS CL E G H	4810	7820	ORPHA:627	Nance-Horan syndrome			88
HP:0000496	HP:0000496	Abnormality of eye movement	0	NIPBL CL E G H	25836	28862	ORPHA:199	Cornelia de Lange syndrome			494
HP:0000496	HP:0000496	Abnormality of eye movement	0	NIPBL CL E G H	25836	28862	OMIM:122470	Cornelia de Lange syndrome 1			494
HP:0000496	HP:0000496	Abnormality of eye movement	0	NKX6-2 CL E G H	84504	19321	ORPHA:527497	NKX6-2-related autosomal recessive hypomyelinating leukodystrophy			2
HP:0000496	HP:0000496	Abnormality of eye movement	0	NKX6-2 CL E G H	84504	19321	OMIM:617560	Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy	.		2
HP:0000496	HP:0000496	Abnormality of eye movement	0	NMNAT1 CL E G H	64802	17877	ORPHA:65	Leber congenital amaurosis			15
HP:0000496	HP:0000496	Abnormality of eye movement	0	NMNAT1 CL E G H	64802	17877	OMIM:608553	Leber congenital amaurosis 9			15
HP:0000496	HP:0000496	Abnormality of eye movement	0	NMNAT1 CL E G H	64802	17877	OMIM:619260	SPONDYLOEPIPHYSEAL DYSPLASIA, SENSORINEURAL HEARING LOSS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND LEBER CONGENITAL AMAUROSIS; SHILCA			15
HP:0000496	HP:0000496	Abnormality of eye movement	0	NODAL CL E G H	4838	7865	ORPHA:280200	Microform holoprosencephaly			45
HP:0000496	HP:0000496	Abnormality of eye movement	0	NOG CL E G H	9241	7866	OMIM:186500	Multiple synostoses syndrome 1			22
HP:0000496	HP:0000496	Abnormality of eye movement	0	NOG CL E G H	9241	7866	ORPHA:3250	Proximal symphalangism			22
HP:0000496	HP:0000496	Abnormality of eye movement	0	NONO CL E G H	4841	7871	ORPHA:466791	Macrocephaly-intellectual disability-left ventricular non compaction syndrome			10
HP:0000496	HP:0000496	Abnormality of eye movement	0	NONO CL E G H	4841	7871	OMIM:300967	MENTAL RETARDATION, X-LINKED, SYNDROMIC 34; MRXS34			10
HP:0000496	HP:0000496	Abnormality of eye movement	0	NOP56 CL E G H	10528	15911	OMIM:614153	Spinocerebellar ataxia 36			9
HP:0000496	HP:0000496	Abnormality of eye movement	0	NOP56 CL E G H	10528	15911	ORPHA:276198	Spinocerebellar ataxia type 36			9
HP:0000496	HP:0000496	Abnormality of eye movement	0	NOTCH1 CL E G H	4851	7881	ORPHA:974	Adams-Oliver syndrome			452
HP:0000496	HP:0000496	Abnormality of eye movement	0	NOTCH2NLC CL E G H	100996717	53924	ORPHA:2289	Neuronal intranuclear inclusion disease
HP:0000496	HP:0000496	Abnormality of eye movement	0	NOTCH2NLC CL E G H	100996717	53924	ORPHA:98897	Oculopharyngodistal myopathy
HP:0000496	HP:0000496	Abnormality of eye movement	0	NOTCH2NLC CL E G H	100996717	53924	OMIM:619473	OCULOPHARYNGODISTAL MYOPATHY 3; OPDM3
HP:0000496	HP:0000496	Abnormality of eye movement	0	NPAP1 CL E G H	23742	1190	OMIM:176270	Prader-Willi syndrome			1
HP:0000496	HP:0000496	Abnormality of eye movement	0	NPC1 CL E G H	4864	7897	OMIM:257220	Niemann-pick disease, type C1			258
HP:0000496	HP:0000496	Abnormality of eye movement	0	NPC2 CL E G H	10577	14537	OMIM:607625	Niemann-pick disease, type C2			33
HP:0000496	HP:0000496	Abnormality of eye movement	0	NPHP1 CL E G H	4867	7905	ORPHA:110	Bardet-Biedl syndrome			85
HP:0000496	HP:0000496	Abnormality of eye movement	0	NPHP1 CL E G H	4867	7905	OMIM:609583	Joubert syndrome 4			85
HP:0000496	HP:0000496	Abnormality of eye movement	0	NPHP1 CL E G H	4867	7905	ORPHA:220497	Joubert syndrome with renal defect			85
HP:0000496	HP:0000496	Abnormality of eye movement	0	NPHP4 CL E G H	261734	19104	OMIM:606996	Senior-Loken syndrome 4			220
HP:0000496	HP:0000496	Abnormality of eye movement	0	NR2E3 CL E G H	10002	7974	ORPHA:791	Retinitis pigmentosa			58
HP:0000496	HP:0000496	Abnormality of eye movement	0	NR2F1 CL E G H	7025	7975	OMIM:615722	Bosch-Boonstra-Schaaf optic atrophy syndrome			37
HP:0000496	HP:0000496	Abnormality of eye movement	0	NR2F1 CL E G H	7025	7975	ORPHA:401777	Optic atrophy-intellectual disability syndrome			37
HP:0000496	HP:0000496	Abnormality of eye movement	0	NR4A2 CL E G H	4929	7981	ORPHA:98808	Autosomal dominant dopa-responsive dystonia			27
HP:0000496	HP:0000496	Abnormality of eye movement	0	NRAS CL E G H	4893	7989	ORPHA:648	Noonan syndrome			102
HP:0000496	HP:0000496	Abnormality of eye movement	0	NRAS CL E G H	4893	7989	OMIM:163200	Schimmelpenning-Feuerstein-Mims syndrome			102
HP:0000496	HP:0000496	Abnormality of eye movement	0	NRCAM CL E G H	4897	7994	OMIM:619833				2
HP:0000496	HP:0000496	Abnormality of eye movement	0	NRL CL E G H	4901	8002	ORPHA:791	Retinitis pigmentosa			30
HP:0000496	HP:0000496	Abnormality of eye movement	0	NRXN1 CL E G H	9378	8008	OMIM:614325	Pitt-Hopkins-Like syndrome 2			470
HP:0000496	HP:0000496	Abnormality of eye movement	0	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome			544
HP:0000496	HP:0000496	Abnormality of eye movement	0	NSD1 CL E G H	64324	14234	OMIM:117550	Sotos syndrome 1			544
HP:0000496	HP:0000496	Abnormality of eye movement	0	NSD2 CL E G H	7468	12766	OMIM:194190	Wolf-Hirschhorn syndrome			118
HP:0000496	HP:0000496	Abnormality of eye movement	0	NSD2 CL E G H	7468	12766	ORPHA:280	Wolf-Hirschhorn syndrome			118
HP:0000496	HP:0000496	Abnormality of eye movement	0	NSDHL CL E G H	50814	13398	ORPHA:251383	CK syndrome			34
HP:0000496	HP:0000496	Abnormality of eye movement	0	NSDHL CL E G H	50814	13398	OMIM:300831	Ck syndrome			34
HP:0000496	HP:0000496	Abnormality of eye movement	0	NSUN2 CL E G H	54888	25994	ORPHA:235	Dubowitz syndrome			84
HP:0000496	HP:0000496	Abnormality of eye movement	0	NSUN2 CL E G H	54888	25994	OMIM:611091	Mental retardation, autosomal recessive 5			84
HP:0000496	HP:0000496	Abnormality of eye movement	0	NSUN3 CL E G H	63899	26208	OMIM:619012	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 48; COXPD48
HP:0000496	HP:0000496	Abnormality of eye movement	0	NT5C2 CL E G H	22978	8022	ORPHA:320396	Autosomal recessive spastic paraplegia type 45			15
HP:0000496	HP:0000496	Abnormality of eye movement	0	NT5C2 CL E G H	22978	8022	OMIM:613162	Spastic paraplegia 45, autosomal recessive			15
HP:0000496	HP:0000496	Abnormality of eye movement	0	NTNG2 CL E G H	84628	14288	OMIM:618718	NEURODEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES, ABSENT SPEECH, AND HYPOTONIA; NEDBASH
HP:0000496	HP:0000496	Abnormality of eye movement	0	NTRK2 CL E G H	4915	8032	OMIM:617830	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 58; EIEE58			8
HP:0000496	HP:0000496	Abnormality of eye movement	0	NTRK2 CL E G H	4915	8032	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			8
HP:0000496	HP:0000496	Abnormality of eye movement	0	NUBPL CL E G H	80224	20278	ORPHA:2609	Isolated complex I deficiency			89
HP:0000496	HP:0000496	Abnormality of eye movement	0	NUBPL CL E G H	80224	20278	OMIM:618242	Mitochondrial complex I deficiency, nuclear type 21			89
HP:0000496	HP:0000496	Abnormality of eye movement	0	NUP133 CL E G H	55746	18016	OMIM:618349	Galloway-Mowat syndrome 8			1
HP:0000496	HP:0000496	Abnormality of eye movement	0	NUP62 CL E G H	23636	8066	ORPHA:225154	Familial infantile bilateral striatal necrosis			7
HP:0000496	HP:0000496	Abnormality of eye movement	0	NUP62 CL E G H	23636	8066	OMIM:271930	Striatonigral degeneration, infantile			7
HP:0000496	HP:0000496	Abnormality of eye movement	0	NUS1 CL E G H	116150	21042	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			1
HP:0000496	HP:0000496	Abnormality of eye movement	0	NUTM2B-AS1 CL E G H	101060691	51204	OMIM:618637	OCULOPHARYNGEAL MYOPATHY WITH LEUKOENCEPHALOPATHY 1; OPML1
HP:0000496	HP:0000496	Abnormality of eye movement	0	NXN CL E G H	64359	18008	ORPHA:1507	Autosomal recessive Robinow syndrome			2
HP:0000496	HP:0000496	Abnormality of eye movement	0	NYX CL E G H	60506	8082	ORPHA:215	Congenital stationary night blindness			42
HP:0000496	HP:0000496	Abnormality of eye movement	0	OCA2 CL E G H	4948	8101	OMIM:203200	Albinism, oculocutaneous, type II			121
HP:0000496	HP:0000496	Abnormality of eye movement	0	OCA2 CL E G H	4948	8101	ORPHA:98794	Angelman syndrome due to maternal 15q11q13 deletion			121
HP:0000496	HP:0000496	Abnormality of eye movement	0	OCA2 CL E G H	4948	8101	ORPHA:79432	Oculocutaneous albinism type 2			121
HP:0000496	HP:0000496	Abnormality of eye movement	0	OCA2 CL E G H	4948	8101	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15			121
HP:0000496	HP:0000496	Abnormality of eye movement	0	OCA2 CL E G H	4948	8101	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1			121
HP:0000496	HP:0000496	Abnormality of eye movement	0	OCA2 CL E G H	4948	8101	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2			121
HP:0000496	HP:0000496	Abnormality of eye movement	0	OCLN CL E G H	100506658	8104	OMIM:251290	Band-Like calcification with simplified gyration and polymicrogyria			23
HP:0000496	HP:0000496	Abnormality of eye movement	0	OCRL CL E G H	4952	8108	ORPHA:534	Oculocerebrorenal syndrome of Lowe			88
HP:0000496	HP:0000496	Abnormality of eye movement	0	OFD1 CL E G H	8481	2567	ORPHA:2754	Orofaciodigital syndrome type 6			201
HP:0000496	HP:0000496	Abnormality of eye movement	0	OFD1 CL E G H	8481	2567	ORPHA:791	Retinitis pigmentosa			201
HP:0000496	HP:0000496	Abnormality of eye movement	0	OFD1 CL E G H	8481	2567	OMIM:300424	Retinitis pigmentosa 23			201
HP:0000496	HP:0000496	Abnormality of eye movement	0	OGDHL CL E G H	55753	25590	OMIM:619701	YOON-BELLEN NEURODEVELOPMENTAL SYNDROME; YOBELN			3
HP:0000496	HP:0000496	Abnormality of eye movement	0	OGT CL E G H	8473	8127	OMIM:300997	Mental retardation, X-linked 106			4
HP:0000496	HP:0000496	Abnormality of eye movement	0	OPA1 CL E G H	4976	8140	ORPHA:1215	Autosomal dominant optic atrophy plus syndrome			214
HP:0000496	HP:0000496	Abnormality of eye movement	0	OPA1 CL E G H	4976	8140	ORPHA:98673	Autosomal dominant optic atrophy, classic form			214
HP:0000496	HP:0000496	Abnormality of eye movement	0	OPA1 CL E G H	4976	8140	OMIM:210000	Behr syndrome			214
HP:0000496	HP:0000496	Abnormality of eye movement	0	OPA1 CL E G H	4976	8140	OMIM:165500	Optic atrophy 1			214
HP:0000496	HP:0000496	Abnormality of eye movement	0	OPA1 CL E G H	4976	8140	OMIM:125250	Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy			214
HP:0000496	HP:0000496	Abnormality of eye movement	0	OPA3 CL E G H	80207	8142	ORPHA:67047	3-methylglutaconic aciduria type 3			163
HP:0000496	HP:0000496	Abnormality of eye movement	0	OPA3 CL E G H	80207	8142	ORPHA:67036	Autosomal dominant optic atrophy and cataract			163
HP:0000496	HP:0000496	Abnormality of eye movement	0	OPHN1 CL E G H	4983	8148	OMIM:300486	Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance			55
HP:0000496	HP:0000496	Abnormality of eye movement	0	OPHN1 CL E G H	4983	8148	ORPHA:137831	X-linked intellectual disability-cerebellar hypoplasia syndrome			55
HP:0000496	HP:0000496	Abnormality of eye movement	0	OPN1LW CL E G H	5956	9936	OMIM:303700	Blue cone monochromacy			7
HP:0000496	HP:0000496	Abnormality of eye movement	0	OPN1MW CL E G H	2652	4206	OMIM:303700	Blue cone monochromacy			5
HP:0000496	HP:0000496	Abnormality of eye movement	0	OPN1SW CL E G H	611	1012	ORPHA:88629	Tritanopia			3
HP:0000496	HP:0000496	Abnormality of eye movement	0	ORC1 CL E G H	4998	8487	OMIM:224690	Meier-Gorlin syndrome 1			53
HP:0000496	HP:0000496	Abnormality of eye movement	0	OSGEP CL E G H	55644	18028	OMIM:617729	Galloway-Mowat syndrome 3
HP:0000496	HP:0000496	Abnormality of eye movement	0	OSTM1 CL E G H	28962	21652	OMIM:259720	Osteopetrosis, autosomal recessive 5			73
HP:0000496	HP:0000496	Abnormality of eye movement	0	OTUD5 CL E G H	55593	25402	OMIM:301056	MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND
HP:0000496	HP:0000496	Abnormality of eye movement	0	OTX2 CL E G H	5015	8522	ORPHA:35612	Nanophthalmos			41
HP:0000496	HP:0000496	Abnormality of eye movement	0	OTX2 CL E G H	5015	8522	ORPHA:3157	Septo-optic dysplasia spectrum			41
HP:0000496	HP:0000496	Abnormality of eye movement	0	OVOL2 CL E G H	58495	15804	ORPHA:98973	Posterior polymorphous corneal dystrophy			4
HP:0000496	HP:0000496	Abnormality of eye movement	0	OXR1 CL E G H	55074	15822	OMIM:213000	Cerebellar hypoplasia			1
HP:0000496	HP:0000496	Abnormality of eye movement	0	P4HA2 CL E G H	8974	8547	ORPHA:397	Giant cell arteritis			3
HP:0000496	HP:0000496	Abnormality of eye movement	0	P4HTM CL E G H	54681	28858	OMIM:618493	Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities	.
HP:0000496	HP:0000496	Abnormality of eye movement	0	PABPN1 CL E G H	8106	8565	ORPHA:270	Oculopharyngeal muscular dystrophy			10
HP:0000496	HP:0000496	Abnormality of eye movement	0	PACS1 CL E G H	55690	30032	OMIM:615009	Schuurs-Hoeijmakers syndrome			24
HP:0000496	HP:0000496	Abnormality of eye movement	0	PACS2 CL E G H	23241	23794	OMIM:618067	Epileptic encephalopathy, early infantile, 66
HP:0000496	HP:0000496	Abnormality of eye movement	0	PAFAH1B1 CL E G H	5048	8574	ORPHA:95232	Lissencephaly due to LIS1 mutation			231
HP:0000496	HP:0000496	Abnormality of eye movement	0	PAH CL E G H	5053	8582	ORPHA:2209	Maternal phenylketonuria			641
HP:0000496	HP:0000496	Abnormality of eye movement	0	PAK1 CL E G H	5058	8590	OMIM:618158	Intellectual developmental disorder with macrocephaly, seizures, and speech delay
HP:0000496	HP:0000496	Abnormality of eye movement	0	PAK2 CL E G H	5062	8591	ORPHA:1571	Knobloch syndrome
HP:0000496	HP:0000496	Abnormality of eye movement	0	PALB2 CL E G H	79728	26144	ORPHA:84	Fanconi anemia			1349
HP:0000496	HP:0000496	Abnormality of eye movement	0	PANK4 CL E G H	55229	19366	OMIM:619593	CATARACT 49; CTRCT49
HP:0000496	HP:0000496	Abnormality of eye movement	0	PARS2 CL E G H	25973	30563	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			14
HP:0000496	HP:0000496	Abnormality of eye movement	0	PAX2 CL E G H	5076	8616	OMIM:120330	Papillorenal syndrome			39
HP:0000496	HP:0000496	Abnormality of eye movement	0	PAX2 CL E G H	5076	8616	ORPHA:1475	Renal coloboma syndrome			39
HP:0000496	HP:0000496	Abnormality of eye movement	0	PAX2 CL E G H	5076	8616	ORPHA:97362	Renal hypoplasia, bilateral			39
HP:0000496	HP:0000496	Abnormality of eye movement	0	PAX3 CL E G H	5077	8617	ORPHA:894	Waardenburg syndrome type 1			59
HP:0000496	HP:0000496	Abnormality of eye movement	0	PAX6 CL E G H	5080	8620	OMIM:106210	Aniridia			194
HP:0000496	HP:0000496	Abnormality of eye movement	0	PAX6 CL E G H	5080	8620	OMIM:604229	Anterior segment dysgenesis 5, multiple subtypes			194
HP:0000496	HP:0000496	Abnormality of eye movement	0	PAX6 CL E G H	5080	8620	ORPHA:2334	Autosomal dominant keratitis			194
HP:0000496	HP:0000496	Abnormality of eye movement	0	PAX6 CL E G H	5080	8620	OMIM:120200	COLOBOMA, OCULAR, AUTOSOMAL DOMINANT			194
HP:0000496	HP:0000496	Abnormality of eye movement	0	PAX6 CL E G H	5080	8620	OMIM:136520	Foveal hypoplasia and presenile cataract syndromefoveal hypoplasia, isolated, included			194
HP:0000496	HP:0000496	Abnormality of eye movement	0	PAX6 CL E G H	5080	8620	ORPHA:2253	Foveal hypoplasia-presenile cataract syndrome			194
HP:0000496	HP:0000496	Abnormality of eye movement	0	PAX6 CL E G H	5080	8620	ORPHA:250923	Isolated aniridia			194
HP:0000496	HP:0000496	Abnormality of eye movement	0	PAX6 CL E G H	5080	8620	ORPHA:137902	Isolated optic nerve hypoplasia/aplasia			194
HP:0000496	HP:0000496	Abnormality of eye movement	0	PAX6 CL E G H	5080	8620	ORPHA:35737	Morning glory disc anomaly			194
HP:0000496	HP:0000496	Abnormality of eye movement	0	PAX6 CL E G H	5080	8620	OMIM:165550	OPTIC NERVE HYPOPLASIA, BILATERAL			194
HP:0000496	HP:0000496	Abnormality of eye movement	0	PAX6 CL E G H	5080	8620	ORPHA:708	Peters anomaly			194
HP:0000496	HP:0000496	Abnormality of eye movement	0	PAX6 CL E G H	5080	8620	ORPHA:893	WAGR syndrome			194
HP:0000496	HP:0000496	Abnormality of eye movement	0	PAX7 CL E G H	5081	8621	OMIM:618578	MYOPATHY, CONGENITAL, PROGRESSIVE, WITH SCOLIOSIS; MYOSCO
HP:0000496	HP:0000496	Abnormality of eye movement	0	PBX1 CL E G H	5087	8632	OMIM:617641	Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay			3
HP:0000496	HP:0000496	Abnormality of eye movement	0	PBX1 CL E G H	5087	8632	ORPHA:97362	Renal hypoplasia, bilateral			3
HP:0000496	HP:0000496	Abnormality of eye movement	0	PCARE CL E G H	388939	34383	ORPHA:791	Retinitis pigmentosa
HP:0000496	HP:0000496	Abnormality of eye movement	0	PCDHGC4 CL E G H	56098	8717	OMIM:619880
HP:0000496	HP:0000496	Abnormality of eye movement	0	PCYT1A CL E G H	5130	8754	ORPHA:65	Leber congenital amaurosis			11
HP:0000496	HP:0000496	Abnormality of eye movement	0	PCYT1A CL E G H	5130	8754	OMIM:608940	Spondylometaphyseal dysplasia with cone-rod dystrophy			11
HP:0000496	HP:0000496	Abnormality of eye movement	0	PCYT1A CL E G H	5130	8754	ORPHA:85167	Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome			11
HP:0000496	HP:0000496	Abnormality of eye movement	0	PCYT2 CL E G H	5833	8756	OMIM:618770	SPASTIC PARAPLEGIA 82, AUTOSOMAL RECESSIVE; SPG82
HP:0000496	HP:0000496	Abnormality of eye movement	0	PDCD6IP CL E G H	10015	8766	OMIM:620047
HP:0000496	HP:0000496	Abnormality of eye movement	0	PDE4D CL E G H	5144	8783	ORPHA:439822	PDE4D haploinsufficiency syndrome			113
HP:0000496	HP:0000496	Abnormality of eye movement	0	PDE6A CL E G H	5145	8785	ORPHA:791	Retinitis pigmentosa			116
HP:0000496	HP:0000496	Abnormality of eye movement	0	PDE6B CL E G H	5158	8786	ORPHA:215	Congenital stationary night blindness			126
HP:0000496	HP:0000496	Abnormality of eye movement	0	PDE6B CL E G H	5158	8786	ORPHA:791	Retinitis pigmentosa			126
HP:0000496	HP:0000496	Abnormality of eye movement	0	PDE6C CL E G H	5146	8787	ORPHA:49382	Achromatopsia			80
HP:0000496	HP:0000496	Abnormality of eye movement	0	PDE6C CL E G H	5146	8787	OMIM:613093	Cone dystrophy 4			80
HP:0000496	HP:0000496	Abnormality of eye movement	0	PDE6D CL E G H	5147	8788	OMIM:615665	Joubert syndrome 22			1
HP:0000496	HP:0000496	Abnormality of eye movement	0	PDE6D CL E G H	5147	8788	ORPHA:2754	Orofaciodigital syndrome type 6			1
HP:0000496	HP:0000496	Abnormality of eye movement	0	PDE6G CL E G H	5148	8789	ORPHA:791	Retinitis pigmentosa			18
HP:0000496	HP:0000496	Abnormality of eye movement	0	PDE6H CL E G H	5149	8790	ORPHA:49382	Achromatopsia			14
HP:0000496	HP:0000496	Abnormality of eye movement	0	PDE6H CL E G H	5149	8790	OMIM:610024	Retinal cone dystrophy 3A			14
HP:0000496	HP:0000496	Abnormality of eye movement	0	PDGFB CL E G H	5155	8800	ORPHA:2495	Meningioma			9
HP:0000496	HP:0000496	Abnormality of eye movement	0	PDGFRB CL E G H	5159	8804	OMIM:615007	Basal ganglia calcification, idiopathic, 4			28
HP:0000496	HP:0000496	Abnormality of eye movement	0	PDHA1 CL E G H	5160	8806	ORPHA:255241	Leigh syndrome with leukodystrophy			88
HP:0000496	HP:0000496	Abnormality of eye movement	0	PDHA1 CL E G H	5160	8806	OMIM:312170	Pyruvate dehydrogenase e1-alpha deficiency	.		88
HP:0000496	HP:0000496	Abnormality of eye movement	0	PDHB CL E G H	5162	8808	ORPHA:255138	Pyruvate dehydrogenase E1-beta deficiency			37
HP:0000496	HP:0000496	Abnormality of eye movement	0	PDHX CL E G H	8050	21350	OMIM:245349	Pyruvate dehydrogenase e3-binding protein deficiency	.		98
HP:0000496	HP:0000496	Abnormality of eye movement	0	PDP1 CL E G H	54704	9279	OMIM:608782	Pyruvate dehydrogenase phosphatase deficiency			52
HP:0000496	HP:0000496	Abnormality of eye movement	0	PDPN CL E G H	10630	29602	ORPHA:1606	1p36 deletion syndrome
HP:0000496	HP:0000496	Abnormality of eye movement	0	PDYN CL E G H	5173	8820	OMIM:610245	Spinocerebellar ataxia 23			52
HP:0000496	HP:0000496	Abnormality of eye movement	0	PDYN CL E G H	5173	8820	ORPHA:101108	Spinocerebellar ataxia type 23			52
HP:0000496	HP:0000496	Abnormality of eye movement	0	PDZD7 CL E G H	79955	26257	ORPHA:231178	Usher syndrome type 2			40
HP:0000496	HP:0000496	Abnormality of eye movement	0	PET100 CL E G H	100131801	40038	ORPHA:255241	Leigh syndrome with leukodystrophy			6
HP:0000496	HP:0000496	Abnormality of eye movement	0	PET100 CL E G H	100131801	40038	OMIM:619055	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 12; MC4DN12			6
HP:0000496	HP:0000496	Abnormality of eye movement	0	PEX1 CL E G H	5189	8850	ORPHA:772	Infantile Refsum disease			169
HP:0000496	HP:0000496	Abnormality of eye movement	0	PEX1 CL E G H	5189	8850	ORPHA:44	Neonatal adrenoleukodystrophy			169
HP:0000496	HP:0000496	Abnormality of eye movement	0	PEX1 CL E G H	5189	8850	OMIM:214100	Peroxisome biogenesis disorder 1A (Zellweger)			169
HP:0000496	HP:0000496	Abnormality of eye movement	0	PEX1 CL E G H	5189	8850	ORPHA:912	Zellweger syndrome			169
HP:0000496	HP:0000496	Abnormality of eye movement	0	PEX10 CL E G H	5192	8851	ORPHA:247815	Autosomal recessive ataxia due to PEX10 deficiency			75
HP:0000496	HP:0000496	Abnormality of eye movement	0	PEX10 CL E G H	5192	8851	ORPHA:772	Infantile Refsum disease			75
HP:0000496	HP:0000496	Abnormality of eye movement	0	PEX10 CL E G H	5192	8851	ORPHA:44	Neonatal adrenoleukodystrophy			75
HP:0000496	HP:0000496	Abnormality of eye movement	0	PEX10 CL E G H	5192	8851	OMIM:614871	Peroxisome biogenesis disorder 6B			75
HP:0000496	HP:0000496	Abnormality of eye movement	0	PEX10 CL E G H	5192	8851	ORPHA:912	Zellweger syndrome			75
HP:0000496	HP:0000496	Abnormality of eye movement	0	PEX11B CL E G H	8799	8853	ORPHA:772	Infantile Refsum disease			4
HP:0000496	HP:0000496	Abnormality of eye movement	0	PEX11B CL E G H	8799	8853	ORPHA:44	Neonatal adrenoleukodystrophy			4
HP:0000496	HP:0000496	Abnormality of eye movement	0	PEX11B CL E G H	8799	8853	OMIM:614920	Peroxisome biogenesis disorder 14B			4
HP:0000496	HP:0000496	Abnormality of eye movement	0	PEX11B CL E G H	8799	8853	ORPHA:912	Zellweger syndrome			4
HP:0000496	HP:0000496	Abnormality of eye movement	0	PEX12 CL E G H	5193	8854	ORPHA:772	Infantile Refsum disease			65
HP:0000496	HP:0000496	Abnormality of eye movement	0	PEX12 CL E G H	5193	8854	ORPHA:44	Neonatal adrenoleukodystrophy			65
HP:0000496	HP:0000496	Abnormality of eye movement	0	PEX12 CL E G H	5193	8854	ORPHA:912	Zellweger syndrome			65
HP:0000496	HP:0000496	Abnormality of eye movement	0	PEX13 CL E G H	5194	8855	ORPHA:772	Infantile Refsum disease			66
HP:0000496	HP:0000496	Abnormality of eye movement	0	PEX13 CL E G H	5194	8855	ORPHA:44	Neonatal adrenoleukodystrophy			66
HP:0000496	HP:0000496	Abnormality of eye movement	0	PEX13 CL E G H	5194	8855	ORPHA:912	Zellweger syndrome			66
HP:0000496	HP:0000496	Abnormality of eye movement	0	PEX14 CL E G H	5195	8856	ORPHA:772	Infantile Refsum disease			46
HP:0000496	HP:0000496	Abnormality of eye movement	0	PEX14 CL E G H	5195	8856	ORPHA:44	Neonatal adrenoleukodystrophy			46
HP:0000496	HP:0000496	Abnormality of eye movement	0	PEX14 CL E G H	5195	8856	ORPHA:912	Zellweger syndrome			46
HP:0000496	HP:0000496	Abnormality of eye movement	0	PEX16 CL E G H	9409	8857	ORPHA:772	Infantile Refsum disease			59
HP:0000496	HP:0000496	Abnormality of eye movement	0	PEX16 CL E G H	9409	8857	ORPHA:44	Neonatal adrenoleukodystrophy			59
HP:0000496	HP:0000496	Abnormality of eye movement	0	PEX16 CL E G H	9409	8857	OMIM:614877	Peroxisome biogenesis disorder 8B			59
HP:0000496	HP:0000496	Abnormality of eye movement	0	PEX16 CL E G H	9409	8857	ORPHA:912	Zellweger syndrome			59
HP:0000496	HP:0000496	Abnormality of eye movement	0	PEX19 CL E G H	5824	9713	ORPHA:772	Infantile Refsum disease			62
HP:0000496	HP:0000496	Abnormality of eye movement	0	PEX19 CL E G H	5824	9713	ORPHA:44	Neonatal adrenoleukodystrophy			62
HP:0000496	HP:0000496	Abnormality of eye movement	0	PEX19 CL E G H	5824	9713	ORPHA:912	Zellweger syndrome			62
HP:0000496	HP:0000496	Abnormality of eye movement	0	PEX2 CL E G H	5828	9717	ORPHA:772	Infantile Refsum disease			82
HP:0000496	HP:0000496	Abnormality of eye movement	0	PEX2 CL E G H	5828	9717	ORPHA:44	Neonatal adrenoleukodystrophy			82
HP:0000496	HP:0000496	Abnormality of eye movement	0	PEX2 CL E G H	5828	9717	OMIM:614867	Peroxisome biogenesis disorder 5B			82
HP:0000496	HP:0000496	Abnormality of eye movement	0	PEX2 CL E G H	5828	9717	ORPHA:912	Zellweger syndrome			82
HP:0000496	HP:0000496	Abnormality of eye movement	0	PEX26 CL E G H	55670	22965	ORPHA:772	Infantile Refsum disease			106
HP:0000496	HP:0000496	Abnormality of eye movement	0	PEX26 CL E G H	55670	22965	ORPHA:44	Neonatal adrenoleukodystrophy			106
HP:0000496	HP:0000496	Abnormality of eye movement	0	PEX26 CL E G H	55670	22965	OMIM:614872	Peroxisome biogenesis disorder 7A (zellweger)			106
HP:0000496	HP:0000496	Abnormality of eye movement	0	PEX26 CL E G H	55670	22965	ORPHA:912	Zellweger syndrome			106
HP:0000496	HP:0000496	Abnormality of eye movement	0	PEX3 CL E G H	8504	8858	ORPHA:772	Infantile Refsum disease			47
HP:0000496	HP:0000496	Abnormality of eye movement	0	PEX3 CL E G H	8504	8858	ORPHA:44	Neonatal adrenoleukodystrophy			47
HP:0000496	HP:0000496	Abnormality of eye movement	0	PEX3 CL E G H	8504	8858	OMIM:617370	Peroxisome biogenesis disorder 10B			47
HP:0000496	HP:0000496	Abnormality of eye movement	0	PEX3 CL E G H	8504	8858	ORPHA:912	Zellweger syndrome			47
HP:0000496	HP:0000496	Abnormality of eye movement	0	PEX5 CL E G H	5830	9719	ORPHA:772	Infantile Refsum disease			99
HP:0000496	HP:0000496	Abnormality of eye movement	0	PEX5 CL E G H	5830	9719	ORPHA:44	Neonatal adrenoleukodystrophy			99
HP:0000496	HP:0000496	Abnormality of eye movement	0	PEX5 CL E G H	5830	9719	OMIM:202370	Peroxisome biogenesis disorder 2B			99
HP:0000496	HP:0000496	Abnormality of eye movement	0	PEX5 CL E G H	5830	9719	OMIM:616716	RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5; RCDP5			99
HP:0000496	HP:0000496	Abnormality of eye movement	0	PEX5 CL E G H	5830	9719	ORPHA:912	Zellweger syndrome			99
HP:0000496	HP:0000496	Abnormality of eye movement	0	PEX6 CL E G H	5190	8859	ORPHA:95433	Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome			98
HP:0000496	HP:0000496	Abnormality of eye movement	0	PEX6 CL E G H	5190	8859	ORPHA:772	Infantile Refsum disease			98
HP:0000496	HP:0000496	Abnormality of eye movement	0	PEX6 CL E G H	5190	8859	ORPHA:44	Neonatal adrenoleukodystrophy			98
HP:0000496	HP:0000496	Abnormality of eye movement	0	PEX6 CL E G H	5190	8859	OMIM:614863	Peroxisome biogenesis disorder 4B			98
HP:0000496	HP:0000496	Abnormality of eye movement	0	PEX6 CL E G H	5190	8859	ORPHA:912	Zellweger syndrome			98
HP:0000496	HP:0000496	Abnormality of eye movement	0	PEX7 CL E G H	5191	8860	OMIM:266500	Refsum disease			72
HP:0000496	HP:0000496	Abnormality of eye movement	0	PEX7 CL E G H	5191	8860	ORPHA:773	Refsum disease	HP:0040282 - Frequent		72
HP:0000496	HP:0000496	Abnormality of eye movement	0	PGAP1 CL E G H	80055	25712	OMIM:615802	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42; MRT42			20
HP:0000496	HP:0000496	Abnormality of eye movement	0	PGAP2 CL E G H	27315	17893	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			8
HP:0000496	HP:0000496	Abnormality of eye movement	0	PGAP3 CL E G H	93210	23719	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			20
HP:0000496	HP:0000496	Abnormality of eye movement	0	PHF21A CL E G H	51317	24156	ORPHA:52022	Potocki-Shaffer syndrome			2
HP:0000496	HP:0000496	Abnormality of eye movement	0	PHF6 CL E G H	84295	18145	OMIM:301900	Borjeson-Forssman-Lehmann syndrome			29
HP:0000496	HP:0000496	Abnormality of eye movement	0	PHF6 CL E G H	84295	18145	ORPHA:127	Borjeson-Forssman-Lehmann syndrome			29
HP:0000496	HP:0000496	Abnormality of eye movement	0	PHGDH CL E G H	26227	8923	ORPHA:79351	3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form			37
HP:0000496	HP:0000496	Abnormality of eye movement	0	PHGDH CL E G H	26227	8923	OMIM:601815	Phosphoglycerate dehydrogenase deficiency			37
HP:0000496	HP:0000496	Abnormality of eye movement	0	PHIP CL E G H	55023	15673	OMIM:617991	Developmental delay, intellectual disability, obesity, and dysmorphic features			11
HP:0000496	HP:0000496	Abnormality of eye movement	0	PHIP CL E G H	55023	15673	ORPHA:589905	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome			11
HP:0000496	HP:0000496	Abnormality of eye movement	0	PHOX2A CL E G H	401	691	OMIM:602078	Fibrosis of extraocular muscles, congenital, 2			6
HP:0000496	HP:0000496	Abnormality of eye movement	0	PHOX2B CL E G H	8929	9143	ORPHA:99803	Haddad syndrome			86
HP:0000496	HP:0000496	Abnormality of eye movement	0	PHYH CL E G H	5264	8940	ORPHA:773	Refsum disease	HP:0040282 - Frequent		45
HP:0000496	HP:0000496	Abnormality of eye movement	0	PHYH CL E G H	5264	8940	OMIM:266500	Refsum disease			45
HP:0000496	HP:0000496	Abnormality of eye movement	0	PI4KA CL E G H	5297	8983	ORPHA:98889	Bilateral perisylvian polymicrogyria			11
HP:0000496	HP:0000496	Abnormality of eye movement	0	PI4KA CL E G H	5297	8983	OMIM:619708	GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 2; GIDID2			11
HP:0000496	HP:0000496	Abnormality of eye movement	0	PI4KA CL E G H	5297	8983	OMIM:619621	SPASTIC PARAPLEGIA 84, AUTOSOMAL RECESSIVE; SPG84			11
HP:0000496	HP:0000496	Abnormality of eye movement	0	PIBF1 CL E G H	10464	23352	ORPHA:475	Joubert syndrome			4
HP:0000496	HP:0000496	Abnormality of eye movement	0	PIBF1 CL E G H	10464	23352	OMIM:617767	Joubert syndrome 33			4
HP:0000496	HP:0000496	Abnormality of eye movement	0	PIDD1 CL E G H	55367	16491	OMIM:619827	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 75, WITH NEUROPSYCHIATRIC FEATURES AND VARIANT LISSENCEPHALY; MRT75
HP:0000496	HP:0000496	Abnormality of eye movement	0	PIEZO2 CL E G H	63895	26270	OMIM:114300	Arthrogryposis, distal, type 3			77
HP:0000496	HP:0000496	Abnormality of eye movement	0	PIEZO2 CL E G H	63895	26270	OMIM:108145	Arthrogryposis, distal, type 5			77
HP:0000496	HP:0000496	Abnormality of eye movement	0	PIEZO2 CL E G H	63895	26270	ORPHA:1154	Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome			77
HP:0000496	HP:0000496	Abnormality of eye movement	0	PIEZO2 CL E G H	63895	26270	OMIM:248700	Marden-Walker syndrome			77
HP:0000496	HP:0000496	Abnormality of eye movement	0	PIGB CL E G H	9488	8959	OMIM:618580	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 80; DEE80
HP:0000496	HP:0000496	Abnormality of eye movement	0	PIGG CL E G H	54872	25985	ORPHA:280	Wolf-Hirschhorn syndrome			7
HP:0000496	HP:0000496	Abnormality of eye movement	0	PIGL CL E G H	9487	8966	ORPHA:3474	CHIME syndrome			36
HP:0000496	HP:0000496	Abnormality of eye movement	0	PIGL CL E G H	9487	8966	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			36
HP:0000496	HP:0000496	Abnormality of eye movement	0	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome			37
HP:0000496	HP:0000496	Abnormality of eye movement	0	PIGN CL E G H	23556	8967	OMIM:614080	Multiple congenital anomalies-hypotonia-seizures syndrome 1			37
HP:0000496	HP:0000496	Abnormality of eye movement	0	PIGO CL E G H	84720	23215	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			84
HP:0000496	HP:0000496	Abnormality of eye movement	0	PIGP CL E G H	51227	3046	ORPHA:1934	Early infantile epileptic encephalopathy			2
HP:0000496	HP:0000496	Abnormality of eye movement	0	PIGQ CL E G H	9091	14135	ORPHA:1934	Early infantile epileptic encephalopathy			3
HP:0000496	HP:0000496	Abnormality of eye movement	0	PIGQ CL E G H	9091	14135	OMIM:618548	MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 4; MCAHS4			3
HP:0000496	HP:0000496	Abnormality of eye movement	0	PIGS CL E G H	94005	14937	OMIM:618143	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18; GPIBD18
HP:0000496	HP:0000496	Abnormality of eye movement	0	PIGT CL E G H	51604	14938	ORPHA:369837	Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome			12
HP:0000496	HP:0000496	Abnormality of eye movement	0	PIGT CL E G H	51604	14938	OMIM:615398	Multiple congenital anomalies-hypotonia-seizures syndrome 3	.		12
HP:0000496	HP:0000496	Abnormality of eye movement	0	PIGU CL E G H	128869	15791	OMIM:618590	NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES, SEIZURES, AND SCOLIOSIS; NEDBSS
HP:0000496	HP:0000496	Abnormality of eye movement	0	PIGV CL E G H	55650	26031	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			57
HP:0000496	HP:0000496	Abnormality of eye movement	0	PIGW CL E G H	284098	23213	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			6
HP:0000496	HP:0000496	Abnormality of eye movement	0	PIGY CL E G H	84992	28213	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			2
HP:0000496	HP:0000496	Abnormality of eye movement	0	PIK3CA CL E G H	5290	8975	ORPHA:99802	Hemimegalencephaly			162
HP:0000496	HP:0000496	Abnormality of eye movement	0	PIK3CA CL E G H	5290	8975	ORPHA:2495	Meningioma			162
HP:0000496	HP:0000496	Abnormality of eye movement	0	PIK3R5 CL E G H	23533	30035	OMIM:615217	Ataxia-Oculomotor apraxia 3			11
HP:0000496	HP:0000496	Abnormality of eye movement	0	PIK3R5 CL E G H	23533	30035	ORPHA:64753	Spinocerebellar ataxia with axonal neuropathy type 2			11
HP:0000496	HP:0000496	Abnormality of eye movement	0	PITX2 CL E G H	5308	9005	OMIM:180500	Axenfeld-rieger syndrome, type 1			51
HP:0000496	HP:0000496	Abnormality of eye movement	0	PITX2 CL E G H	5308	9005	ORPHA:708	Peters anomaly			51
HP:0000496	HP:0000496	Abnormality of eye movement	0	PLA2G6 CL E G H	8398	9039	ORPHA:199351	Adult-onset dystonia-parkinsonism			133
HP:0000496	HP:0000496	Abnormality of eye movement	0	PLA2G6 CL E G H	8398	9039	ORPHA:35069	Infantile neuroaxonal dystrophy			133
HP:0000496	HP:0000496	Abnormality of eye movement	0	PLA2G6 CL E G H	8398	9039	OMIM:256600	Neurodegeneration with brain iron accumulation 2A			133
HP:0000496	HP:0000496	Abnormality of eye movement	0	PLA2G6 CL E G H	8398	9039	OMIM:610217	Neurodegeneration with brain iron accumulation 2B			133
HP:0000496	HP:0000496	Abnormality of eye movement	0	PLA2G6 CL E G H	8398	9039	OMIM:612953	Parkinson disease 14, autosomal recessive			133
HP:0000496	HP:0000496	Abnormality of eye movement	0	PLAA CL E G H	9373	9043	OMIM:617527	Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies			3
HP:0000496	HP:0000496	Abnormality of eye movement	0	PLAA CL E G H	9373	9043	ORPHA:521426	PLAA-associated neurodevelopmental disorder			3
HP:0000496	HP:0000496	Abnormality of eye movement	0	PLD3 CL E G H	23646	17158	OMIM:617770	Spinocerebellar ataxia 46			2
HP:0000496	HP:0000496	Abnormality of eye movement	0	PLEC CL E G H	5339	9069	ORPHA:257	Epidermolysis bullosa simplex with muscular dystrophy			759
HP:0000496	HP:0000496	Abnormality of eye movement	0	PLEKHG2 CL E G H	64857	29515	OMIM:616763	Leukodystrophy and acquired microcephaly with or without dystonia			3
HP:0000496	HP:0000496	Abnormality of eye movement	0	PLK4 CL E G H	10733	11397	ORPHA:2518	Autosomal recessive chorioretinopathy-microcephaly syndrome			11
HP:0000496	HP:0000496	Abnormality of eye movement	0	PLOD1 CL E G H	5351	9081	ORPHA:1900	Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency			105
HP:0000496	HP:0000496	Abnormality of eye movement	0	PLP1 CL E G H	5354	9086	OMIM:312080	Pelizaeus-Merzbacher disease			60
HP:0000496	HP:0000496	Abnormality of eye movement	0	PLP1 CL E G H	5354	9086	ORPHA:280229	Pelizaeus-Merzbacher disease in female carriers			60
HP:0000496	HP:0000496	Abnormality of eye movement	0	PLP1 CL E G H	5354	9086	ORPHA:280219	Pelizaeus-Merzbacher disease, classic form			60
HP:0000496	HP:0000496	Abnormality of eye movement	0	PLP1 CL E G H	5354	9086	ORPHA:280210	Pelizaeus-Merzbacher disease, connatal form			60
HP:0000496	HP:0000496	Abnormality of eye movement	0	PLP1 CL E G H	5354	9086	ORPHA:280224	Pelizaeus-Merzbacher disease, transitional form			60
HP:0000496	HP:0000496	Abnormality of eye movement	0	PLP1 CL E G H	5354	9086	OMIM:312920	Spastic paraplegia 2, X-linked			60
HP:0000496	HP:0000496	Abnormality of eye movement	0	PLP1 CL E G H	5354	9086	ORPHA:99015	Spastic paraplegia type 2			60
HP:0000496	HP:0000496	Abnormality of eye movement	0	PLPBP CL E G H	11212	9457	OMIM:617290	Epilepsy, early-onset, vitamin b6-dependent			6
HP:0000496	HP:0000496	Abnormality of eye movement	0	PLPBP CL E G H	11212	9457	ORPHA:3006	Pyridoxine-dependent epilepsy	HP:0040283 - Occasional		6
HP:0000496	HP:0000496	Abnormality of eye movement	0	PLXNA1 CL E G H	5361	9099	OMIM:619955
HP:0000496	HP:0000496	Abnormality of eye movement	0	PLXND1 CL E G H	23129	9107	ORPHA:570	Moebius syndrome
HP:0000496	HP:0000496	Abnormality of eye movement	0	PMM2 CL E G H	5373	9115	OMIM:212065	Congenital disorder of glycosylation, type Ia			150
HP:0000496	HP:0000496	Abnormality of eye movement	0	PMM2 CL E G H	5373	9115	ORPHA:79318	PMM2-CDG			150
HP:0000496	HP:0000496	Abnormality of eye movement	0	PMP22 CL E G H	5376	9118	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas			79
HP:0000496	HP:0000496	Abnormality of eye movement	0	PMP22 CL E G H	5376	9118	ORPHA:3115	Roussy-Lévy syndrome			79
HP:0000496	HP:0000496	Abnormality of eye movement	0	PMPCA CL E G H	23203	18667	ORPHA:1170	Autosomal recessive cerebelloparenchymal disorder type 3			7
HP:0000496	HP:0000496	Abnormality of eye movement	0	PMPCA CL E G H	23203	18667	OMIM:213200	Spinocerebellar ataxia, autosomal recessive 2			7
HP:0000496	HP:0000496	Abnormality of eye movement	0	PNKP CL E G H	11284	9154	OMIM:616267	Ataxia-Oculomotor apraxia 4			244
HP:0000496	HP:0000496	Abnormality of eye movement	0	PNKP CL E G H	11284	9154	ORPHA:459033	Ataxia-oculomotor apraxia type 4			244
HP:0000496	HP:0000496	Abnormality of eye movement	0	PNKP CL E G H	11284	9154	ORPHA:1934	Early infantile epileptic encephalopathy			244
HP:0000496	HP:0000496	Abnormality of eye movement	0	PNPLA6 CL E G H	10908	16268	ORPHA:1173	Cerebellar ataxia-hypogonadism syndrome			103
HP:0000496	HP:0000496	Abnormality of eye movement	0	PNPLA6 CL E G H	10908	16268	OMIM:245800	Laurence-Moon syndrome			103
HP:0000496	HP:0000496	Abnormality of eye movement	0	PNPLA6 CL E G H	10908	16268	ORPHA:2377	Laurence-Moon syndrome			103
HP:0000496	HP:0000496	Abnormality of eye movement	0	PNPLA6 CL E G H	10908	16268	OMIM:275400	Oliver-Mcfarlane syndrome			103
HP:0000496	HP:0000496	Abnormality of eye movement	0	PNPO CL E G H	55163	30260	ORPHA:79096	Pyridoxal phosphate-responsive seizures	HP:0040282 - Frequent		92
HP:0000496	HP:0000496	Abnormality of eye movement	0	PNPO CL E G H	55163	30260	OMIM:610090	Pyridoxamine 5-prime-phosphate oxidase deficiency			92
HP:0000496	HP:0000496	Abnormality of eye movement	0	PNPT1 CL E G H	87178	23166	ORPHA:319514	Combined oxidative phosphorylation defect type 13	HP:0040283 - Occasional		60
HP:0000496	HP:0000496	Abnormality of eye movement	0	PNPT1 CL E G H	87178	23166	OMIM:614932	Combined oxidative phosphorylation deficiency 13	.		60
HP:0000496	HP:0000496	Abnormality of eye movement	0	PNPT1 CL E G H	87178	23166	OMIM:608703	Spinocerebellar ataxia 25			60
HP:0000496	HP:0000496	Abnormality of eye movement	0	PNPT1 CL E G H	87178	23166	ORPHA:101111	Spinocerebellar ataxia type 25			60
HP:0000496	HP:0000496	Abnormality of eye movement	0	POC1B CL E G H	282809	30836	OMIM:615973	Cone-Rod dystrophy 20			3
HP:0000496	HP:0000496	Abnormality of eye movement	0	POGZ CL E G H	23126	18801	OMIM:616364	White-Sutton syndrome			35
HP:0000496	HP:0000496	Abnormality of eye movement	0	POGZ CL E G H	23126	18801	ORPHA:468678	White-Sutton syndrome			35
HP:0000496	HP:0000496	Abnormality of eye movement	0	POLA1 CL E G H	5422	9173	OMIM:301030	Van esch-o'driscoll syndrome			2
HP:0000496	HP:0000496	Abnormality of eye movement	0	POLG CL E G H	5428	9179	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040282 - Frequent		464
HP:0000496	HP:0000496	Abnormality of eye movement	0	POLG CL E G H	5428	9179	ORPHA:254886	Autosomal recessive progressive external ophthalmoplegia			464
HP:0000496	HP:0000496	Abnormality of eye movement	0	POLG CL E G H	5428	9179	OMIM:603041	Mitochondrial DNA depletion syndrome 1 (mngie type)			464
HP:0000496	HP:0000496	Abnormality of eye movement	0	POLG CL E G H	5428	9179	OMIM:613662	Mitochondrial DNA depletion syndrome 4B (mngie type)			464
HP:0000496	HP:0000496	Abnormality of eye movement	0	POLG CL E G H	5428	9179	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy			464
HP:0000496	HP:0000496	Abnormality of eye movement	0	POLG CL E G H	5428	9179	OMIM:157640	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1			464
HP:0000496	HP:0000496	Abnormality of eye movement	0	POLG CL E G H	5428	9179	OMIM:258450	Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive			464
HP:0000496	HP:0000496	Abnormality of eye movement	0	POLG CL E G H	5428	9179	ORPHA:94125	Recessive mitochondrial ataxia syndrome			464
HP:0000496	HP:0000496	Abnormality of eye movement	0	POLG CL E G H	5428	9179	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis			464
HP:0000496	HP:0000496	Abnormality of eye movement	0	POLG CL E G H	5428	9179	ORPHA:70595	Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome			464
HP:0000496	HP:0000496	Abnormality of eye movement	0	POLG2 CL E G H	11232	9180	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040282 - Frequent		45
HP:0000496	HP:0000496	Abnormality of eye movement	0	POLG2 CL E G H	11232	9180	OMIM:610131	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4			45
HP:0000496	HP:0000496	Abnormality of eye movement	0	POLR1B CL E G H	84172	20454	ORPHA:861	Treacher-Collins syndrome
HP:0000496	HP:0000496	Abnormality of eye movement	0	POLR1C CL E G H	9533	20194	ORPHA:861	Treacher-Collins syndrome			38
HP:0000496	HP:0000496	Abnormality of eye movement	0	POLR1D CL E G H	51082	20422	ORPHA:861	Treacher-Collins syndrome			31
HP:0000496	HP:0000496	Abnormality of eye movement	0	POLR2A CL E G H	5430	9187	OMIM:618603	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND VARIABLE INTELLECTUAL AND BEHAVIORAL ABNORMALITIES; NEDHIB
HP:0000496	HP:0000496	Abnormality of eye movement	0	POLR3A CL E G H	11128	30074	OMIM:607694	Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism			138
HP:0000496	HP:0000496	Abnormality of eye movement	0	POLR3A CL E G H	11128	30074	ORPHA:447896	Tremor-ataxia-central hypomyelination syndrome			138
HP:0000496	HP:0000496	Abnormality of eye movement	0	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome			138
HP:0000496	HP:0000496	Abnormality of eye movement	0	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome			138
HP:0000496	HP:0000496	Abnormality of eye movement	0	POLR3B CL E G H	55703	30348	OMIM:607694	Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism			67
HP:0000496	HP:0000496	Abnormality of eye movement	0	POLR3B CL E G H	55703	30348	OMIM:614381	Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism			67
HP:0000496	HP:0000496	Abnormality of eye movement	0	POLR3K CL E G H	51728	14121	OMIM:619310	LEUKODYSTROPHY, HYPOMYELINATING, 21; HLD21
HP:0000496	HP:0000496	Abnormality of eye movement	0	POLRMT CL E G H	5442	9200	OMIM:619743	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55; COXPD55			1
HP:0000496	HP:0000496	Abnormality of eye movement	0	POMGNT1 CL E G H	55624	19139	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement			180
HP:0000496	HP:0000496	Abnormality of eye movement	0	POMGNT1 CL E G H	55624	19139	ORPHA:588	Muscle-eye-brain disease			180
HP:0000496	HP:0000496	Abnormality of eye movement	0	POMGNT1 CL E G H	55624	19139	OMIM:253280	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3			180
HP:0000496	HP:0000496	Abnormality of eye movement	0	POMGNT1 CL E G H	55624	19139	OMIM:613151	Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3			180
HP:0000496	HP:0000496	Abnormality of eye movement	0	POMGNT1 CL E G H	55624	19139	ORPHA:791	Retinitis pigmentosa			180
HP:0000496	HP:0000496	Abnormality of eye movement	0	POMK CL E G H	84197	26267	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement			18
HP:0000496	HP:0000496	Abnormality of eye movement	0	POMT1 CL E G H	10585	9202	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement			213
HP:0000496	HP:0000496	Abnormality of eye movement	0	POMT1 CL E G H	10585	9202	ORPHA:370968	Congenital muscular dystrophy with intellectual disability			213
HP:0000496	HP:0000496	Abnormality of eye movement	0	POMT1 CL E G H	10585	9202	ORPHA:588	Muscle-eye-brain disease			213
HP:0000496	HP:0000496	Abnormality of eye movement	0	POMT2 CL E G H	29954	19743	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement			221
HP:0000496	HP:0000496	Abnormality of eye movement	0	POMT2 CL E G H	29954	19743	ORPHA:370968	Congenital muscular dystrophy with intellectual disability			221
HP:0000496	HP:0000496	Abnormality of eye movement	0	POMT2 CL E G H	29954	19743	ORPHA:588	Muscle-eye-brain disease			221
HP:0000496	HP:0000496	Abnormality of eye movement	0	POMT2 CL E G H	29954	19743	OMIM:613156	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2			221
HP:0000496	HP:0000496	Abnormality of eye movement	0	PORCN CL E G H	64840	17652	ORPHA:2092	Focal dermal hypoplasia			20
HP:0000496	HP:0000496	Abnormality of eye movement	0	PORCN CL E G H	64840	17652	OMIM:305600	Focal dermal hypoplasia			20
HP:0000496	HP:0000496	Abnormality of eye movement	0	POU3F4 CL E G H	5456	9217	ORPHA:1435	Xq21 microdeletion syndrome			40
HP:0000496	HP:0000496	Abnormality of eye movement	0	POU4F1 CL E G H	5457	9218	OMIM:619352	ATAXIA, INTENTION TREMOR, AND HYPOTONIA SYNDROME, CHILDHOOD-ONSET; ATITHS
HP:0000496	HP:0000496	Abnormality of eye movement	0	POU4F1 CL E G H	5457	9218	ORPHA:314647	Non-progressive cerebellar ataxia with intellectual disability
HP:0000496	HP:0000496	Abnormality of eye movement	0	PPFIBP1 CL E G H	8496	9249	OMIM:620024
HP:0000496	HP:0000496	Abnormality of eye movement	0	PPM1D CL E G H	8493	9277	OMIM:617450	Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold			22
HP:0000496	HP:0000496	Abnormality of eye movement	0	PPP1CB CL E G H	5500	9282	OMIM:617506	Noonan syndrome-like disorder with loose anagen hair 2			9
HP:0000496	HP:0000496	Abnormality of eye movement	0	PPP1R12A CL E G H	4659	7618	OMIM:618820	GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME; GUBS
HP:0000496	HP:0000496	Abnormality of eye movement	0	PPP1R21 CL E G H	129285	30595	OMIM:619383	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES; NEDHFBA
HP:0000496	HP:0000496	Abnormality of eye movement	0	PPP2R2B CL E G H	5521	9305	OMIM:604326	Spinocerebellar ataxia 12	.		5
HP:0000496	HP:0000496	Abnormality of eye movement	0	PPP2R5D CL E G H	5528	9312	ORPHA:457279	Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome			10
HP:0000496	HP:0000496	Abnormality of eye movement	0	PPP2R5D CL E G H	5528	9312	OMIM:616355	Mental retardation, autosomal dominant 35			10
HP:0000496	HP:0000496	Abnormality of eye movement	0	PPP3CA CL E G H	5530	9314	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			2
HP:0000496	HP:0000496	Abnormality of eye movement	0	PQBP1 CL E G H	10084	9330	OMIM:309500	Renpenning syndrome			28
HP:0000496	HP:0000496	Abnormality of eye movement	0	PQBP1 CL E G H	10084	9330	ORPHA:93945	X-linked intellectual disability, Porteous type			28
HP:0000496	HP:0000496	Abnormality of eye movement	0	PQBP1 CL E G H	10084	9330	ORPHA:93950	X-linked intellectual disability, Sutherland-Haan type			28
HP:0000496	HP:0000496	Abnormality of eye movement	0	PRCD CL E G H	768206	32528	ORPHA:791	Retinitis pigmentosa			39
HP:0000496	HP:0000496	Abnormality of eye movement	0	PRDM13 CL E G H	59336	13998	OMIM:619909				2
HP:0000496	HP:0000496	Abnormality of eye movement	0	PRDM13 CL E G H	59336	13998	OMIM:619761	CEREBELLAR DYSFUNCTION, IMPAIRED INTELLECTUAL DEVELOPMENT, AND HYPOGONADOTROPIC HYPOGONADISM; CDIDHH			2
HP:0000496	HP:0000496	Abnormality of eye movement	0	PRDM16 CL E G H	63976	14000	ORPHA:1606	1p36 deletion syndrome			148
HP:0000496	HP:0000496	Abnormality of eye movement	0	PRDX1 CL E G H	5052	9352	OMIM:277400	Methylmalonic aciduria and homocystinuria, Cblc type
HP:0000496	HP:0000496	Abnormality of eye movement	0	PRDX3 CL E G H	10935	9354	OMIM:619862
HP:0000496	HP:0000496	Abnormality of eye movement	0	PRKACA CL E G H	5566	9380	ORPHA:289	Ellis Van Creveld syndrome			2
HP:0000496	HP:0000496	Abnormality of eye movement	0	PRKACB CL E G H	5567	9381	ORPHA:289	Ellis Van Creveld syndrome			2
HP:0000496	HP:0000496	Abnormality of eye movement	0	PRKAR1A CL E G H	5573	9388	OMIM:101800	Acrodysostosis 1, with or without hormone resistance			134
HP:0000496	HP:0000496	Abnormality of eye movement	0	PRKAR1B CL E G H	5575	9390	OMIM:619680	MARBACH-SCHAAF NEURODEVELOPMENTAL SYNDROME; MASNS			2
HP:0000496	HP:0000496	Abnormality of eye movement	0	PRKCG CL E G H	5582	9402	OMIM:605361	Spinocerebellar ataxia 14			83
HP:0000496	HP:0000496	Abnormality of eye movement	0	PRKCG CL E G H	5582	9402	ORPHA:98763	Spinocerebellar ataxia type 14			83
HP:0000496	HP:0000496	Abnormality of eye movement	0	PRKCZ CL E G H	5590	9412	ORPHA:1606	1p36 deletion syndrome
HP:0000496	HP:0000496	Abnormality of eye movement	0	PRKD1 CL E G H	5587	9407	OMIM:617364	Congenital heart defects and ectodermal dysplasia			7
HP:0000496	HP:0000496	Abnormality of eye movement	0	PRMT7 CL E G H	54496	25557	OMIM:617157	Short stature, brachydactyly, intellectual developmental disability, and seizures			6
HP:0000496	HP:0000496	Abnormality of eye movement	0	PRMT7 CL E G H	54496	25557	ORPHA:464288	Short stature-brachydactyly-obesity-global developmental delay syndrome			6
HP:0000496	HP:0000496	Abnormality of eye movement	0	PRNP CL E G H	5621	9449	OMIM:123400	Creutzfeldt-Jakob disease			69
HP:0000496	HP:0000496	Abnormality of eye movement	0	PRNP CL E G H	5621	9449	OMIM:137440	Gerstmann-Straussler disease			69
HP:0000496	HP:0000496	Abnormality of eye movement	0	PRNP CL E G H	5621	9449	ORPHA:157941	Huntington disease-like 1	HP:0040283 - Occasional		69
HP:0000496	HP:0000496	Abnormality of eye movement	0	PRNP CL E G H	5621	9449	ORPHA:282166	Inherited Creutzfeldt-Jakob disease			69
HP:0000496	HP:0000496	Abnormality of eye movement	0	PRNP CL E G H	5621	9449	OMIM:245300	KURU, SUSCEPTIBILITY TO			69
HP:0000496	HP:0000496	Abnormality of eye movement	0	PROK2 CL E G H	60675	18455	ORPHA:478	Kallmann syndrome			9
HP:0000496	HP:0000496	Abnormality of eye movement	0	PROKR2 CL E G H	128674	15836	ORPHA:478	Kallmann syndrome			34
HP:0000496	HP:0000496	Abnormality of eye movement	0	PROKR2 CL E G H	128674	15836	ORPHA:3157	Septo-optic dysplasia spectrum			34
HP:0000496	HP:0000496	Abnormality of eye movement	0	PROM1 CL E G H	8842	9454	ORPHA:791	Retinitis pigmentosa			110
HP:0000496	HP:0000496	Abnormality of eye movement	0	PROM1 CL E G H	8842	9454	OMIM:612095	RETINITIS PIGMENTOSA 41; RP41			110
HP:0000496	HP:0000496	Abnormality of eye movement	0	PROM1 CL E G H	8842	9454	ORPHA:827	Stargardt disease			110
HP:0000496	HP:0000496	Abnormality of eye movement	0	PRPF3 CL E G H	9129	17348	ORPHA:791	Retinitis pigmentosa			28
HP:0000496	HP:0000496	Abnormality of eye movement	0	PRPF31 CL E G H	26121	15446	ORPHA:791	Retinitis pigmentosa			70
HP:0000496	HP:0000496	Abnormality of eye movement	0	PRPF4 CL E G H	9128	17349	ORPHA:791	Retinitis pigmentosa			2
HP:0000496	HP:0000496	Abnormality of eye movement	0	PRPF6 CL E G H	24148	15860	ORPHA:791	Retinitis pigmentosa			51
HP:0000496	HP:0000496	Abnormality of eye movement	0	PRPF8 CL E G H	10594	17340	ORPHA:791	Retinitis pigmentosa			94
HP:0000496	HP:0000496	Abnormality of eye movement	0	PRPH2 CL E G H	5961	9942	ORPHA:791	Retinitis pigmentosa			159
HP:0000496	HP:0000496	Abnormality of eye movement	0	PRPH2 CL E G H	5961	9942	ORPHA:827	Stargardt disease			159
HP:0000496	HP:0000496	Abnormality of eye movement	0	PRPS1 CL E G H	5631	9462	OMIM:301835	Arts syndrome			49
HP:0000496	HP:0000496	Abnormality of eye movement	0	PRPS1 CL E G H	5631	9462	ORPHA:1187	Lethal ataxia with deafness and optic atrophy			49
HP:0000496	HP:0000496	Abnormality of eye movement	0	PRPS1 CL E G H	5631	9462	OMIM:300661	Phosphoribosylpyrophosphate synthetase superactivity			49
HP:0000496	HP:0000496	Abnormality of eye movement	0	PRPS1 CL E G H	5631	9462	ORPHA:423479	X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome			49
HP:0000496	HP:0000496	Abnormality of eye movement	0	PRR12 CL E G H	57479	29217	OMIM:619539	NEUROOCULAR SYNDROME; NOC			1
HP:0000496	HP:0000496	Abnormality of eye movement	0	PRRT2 CL E G H	112476	30500	ORPHA:569	Familial or sporadic hemiplegic migraine			94
HP:0000496	HP:0000496	Abnormality of eye movement	0	PRSS12 CL E G H	8492	9477	OMIM:249500	Mental retardation, autosomal recessive 1			73
HP:0000496	HP:0000496	Abnormality of eye movement	0	PRSS56 CL E G H	646960	39433	ORPHA:35612	Nanophthalmos			11
HP:0000496	HP:0000496	Abnormality of eye movement	0	PRX CL E G H	57716	13797	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas			170
HP:0000496	HP:0000496	Abnormality of eye movement	0	PSAP CL E G H	5660	9498	ORPHA:139406	Encephalopathy due to prosaposin deficiency	HP:0040281 - Very frequent		81
HP:0000496	HP:0000496	Abnormality of eye movement	0	PSAP CL E G H	5660	9498	OMIM:610539	Gaucher disease, atypical			81
HP:0000496	HP:0000496	Abnormality of eye movement	0	PSAT1 CL E G H	29968	19129	ORPHA:284417	Phosphoserine aminotransferase deficiency, infantile/juvenile form			27
HP:0000496	HP:0000496	Abnormality of eye movement	0	PSEN1 CL E G H	5663	9508	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease			241
HP:0000496	HP:0000496	Abnormality of eye movement	0	PSEN2 CL E G H	5664	9509	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease			59
HP:0000496	HP:0000496	Abnormality of eye movement	0	PSMC3 CL E G H	5702	9549	OMIM:619354	DEAFNESS, CATARACT, IMPAIRED INTELLECTUAL DEVELOPMENT, AND POLYNEUROPATHY; DCIDP
HP:0000496	HP:0000496	Abnormality of eye movement	0	PSMD12 CL E G H	5718	9557	OMIM:617516	Stankiewicz-Isidor syndrome			4
HP:0000496	HP:0000496	Abnormality of eye movement	0	PTCD3 CL E G H	55037	24717	OMIM:619057	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 51; COXPD51
HP:0000496	HP:0000496	Abnormality of eye movement	0	PTCH1 CL E G H	5727	9585	OMIM:109400	Basal cell nevus syndrome			665
HP:0000496	HP:0000496	Abnormality of eye movement	0	PTCH1 CL E G H	5727	9585	ORPHA:377	Gorlin syndrome			665
HP:0000496	HP:0000496	Abnormality of eye movement	0	PTCH1 CL E G H	5727	9585	ORPHA:280200	Microform holoprosencephaly			665
HP:0000496	HP:0000496	Abnormality of eye movement	0	PTCH1 CL E G H	5727	9585	ORPHA:77301	Monosomy 9q22.3			665
HP:0000496	HP:0000496	Abnormality of eye movement	0	PTCH2 CL E G H	8643	9586	OMIM:109400	Basal cell nevus syndrome			40
HP:0000496	HP:0000496	Abnormality of eye movement	0	PTCH2 CL E G H	8643	9586	ORPHA:377	Gorlin syndrome			40
HP:0000496	HP:0000496	Abnormality of eye movement	0	PTEN CL E G H	5728	9588	ORPHA:101070	Bilateral frontoparietal polymicrogyria			948
HP:0000496	HP:0000496	Abnormality of eye movement	0	PTEN CL E G H	5728	9588	ORPHA:744	Proteus syndrome			948
HP:0000496	HP:0000496	Abnormality of eye movement	0	PTPN11 CL E G H	5781	9644	OMIM:151100	Leopard syndrome 1			291
HP:0000496	HP:0000496	Abnormality of eye movement	0	PTPN11 CL E G H	5781	9644	ORPHA:648	Noonan syndrome			291
HP:0000496	HP:0000496	Abnormality of eye movement	0	PTPN22 CL E G H	26191	9652	ORPHA:397	Giant cell arteritis			3
HP:0000496	HP:0000496	Abnormality of eye movement	0	PTPN23 CL E G H	25930	14406	OMIM:618890	NEURODEVELOPMENTAL DISORDER AND STRUCTURAL BRAIN ANOMALIES WITH OR WITHOUT SEIZURES AND SPASTICITY; NEDBASS			3
HP:0000496	HP:0000496	Abnormality of eye movement	0	PTRH2 CL E G H	51651	24265	ORPHA:456312	Infantile multisystem neurologic-endocrine-pancreatic disease			6
HP:0000496	HP:0000496	Abnormality of eye movement	0	PTRH2 CL E G H	51651	24265	OMIM:616263	Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset			6
HP:0000496	HP:0000496	Abnormality of eye movement	0	PUF60 CL E G H	22827	17042	ORPHA:508488	8q24.3 microdeletion syndrome			19
HP:0000496	HP:0000496	Abnormality of eye movement	0	PUF60 CL E G H	22827	17042	ORPHA:508498	Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome			19
HP:0000496	HP:0000496	Abnormality of eye movement	0	PURA CL E G H	5813	9701	OMIM:616158	Mental retardation, autosomal dominant 31			53
HP:0000496	HP:0000496	Abnormality of eye movement	0	PUS3 CL E G H	83480	25461	OMIM:617051	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 55; MRT55			1
HP:0000496	HP:0000496	Abnormality of eye movement	0	PUS3 CL E G H	83480	25461	ORPHA:488627	Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome			1
HP:0000496	HP:0000496	Abnormality of eye movement	0	PUS7 CL E G H	54517	26033	OMIM:618342	Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature
HP:0000496	HP:0000496	Abnormality of eye movement	0	PWAR1 CL E G H	145624	30089	OMIM:176270	Prader-Willi syndrome
HP:0000496	HP:0000496	Abnormality of eye movement	0	PWRN1 CL E G H	791114	33235	OMIM:176270	Prader-Willi syndrome
HP:0000496	HP:0000496	Abnormality of eye movement	0	PYCR2 CL E G H	29920	30262	OMIM:616420	Leukodystrophy, hypomyelinating, 10			11
HP:0000496	HP:0000496	Abnormality of eye movement	0	PYCR2 CL E G H	29920	30262	ORPHA:481152	PYCR2-related microcephaly-progressive leukoencephalopathy			11
HP:0000496	HP:0000496	Abnormality of eye movement	0	PYROXD1 CL E G H	79912	26162	OMIM:617258	MYOPATHY, MYOFIBRILLAR, 8; MFM8			5
HP:0000496	HP:0000496	Abnormality of eye movement	0	RAB11B CL E G H	9230	9761	OMIM:617807	Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter
HP:0000496	HP:0000496	Abnormality of eye movement	0	RAB18 CL E G H	22931	14244	OMIM:614222	Warburg micro syndrome 3			85
HP:0000496	HP:0000496	Abnormality of eye movement	0	RAB39B CL E G H	116442	16499	ORPHA:2379	Early-onset parkinsonism-intellectual disability syndrome			34
HP:0000496	HP:0000496	Abnormality of eye movement	0	RAB3GAP2 CL E G H	25782	17168	OMIM:212720	Martsolf syndrome 1			135
HP:0000496	HP:0000496	Abnormality of eye movement	0	RAD21 CL E G H	5885	9811	ORPHA:199	Cornelia de Lange syndrome			25
HP:0000496	HP:0000496	Abnormality of eye movement	0	RAD51 CL E G H	5888	9817	ORPHA:84	Fanconi anemia			9
HP:0000496	HP:0000496	Abnormality of eye movement	0	RAD51C CL E G H	5889	9820	ORPHA:84	Fanconi anemia			391
HP:0000496	HP:0000496	Abnormality of eye movement	0	RAF1 CL E G H	5894	9829	ORPHA:648	Noonan syndrome			212
HP:0000496	HP:0000496	Abnormality of eye movement	0	RAI1 CL E G H	10743	9834	ORPHA:477817	PMP22-RAI1 contiguous gene duplication syndrome			150
HP:0000496	HP:0000496	Abnormality of eye movement	0	RAI1 CL E G H	10743	9834	ORPHA:819	Smith-Magenis syndrome			150
HP:0000496	HP:0000496	Abnormality of eye movement	0	RANBP2 CL E G H	5903	9848	ORPHA:88619	Familial acute necrotizing encephalopathy			57
HP:0000496	HP:0000496	Abnormality of eye movement	0	RAPSN CL E G H	5913	9863	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent		73
HP:0000496	HP:0000496	Abnormality of eye movement	0	RARS1 CL E G H	5917	9870	OMIM:616140	Leukodystrophy, hypomyelinating, 9
HP:0000496	HP:0000496	Abnormality of eye movement	0	RARS1 CL E G H	5917	9870	ORPHA:438114	RARS-related autosomal recessive hypomyelinating leukodystrophy
HP:0000496	HP:0000496	Abnormality of eye movement	0	RASA2 CL E G H	5922	9872	ORPHA:648	Noonan syndrome			3
HP:0000496	HP:0000496	Abnormality of eye movement	0	RAX CL E G H	30062	18662	ORPHA:35612	Nanophthalmos			43
HP:0000496	HP:0000496	Abnormality of eye movement	0	RBL2 CL E G H	5934	9894	OMIM:619690	BRUNET-WAGNER NEURODEVELOPMENTAL SYNDROME; BRUWAG
HP:0000496	HP:0000496	Abnormality of eye movement	0	RBM8A CL E G H	9939	9905	OMIM:274000	Thrombocytopenia-absent radius syndrome			10
HP:0000496	HP:0000496	Abnormality of eye movement	0	RBP3 CL E G H	5949	9921	ORPHA:791	Retinitis pigmentosa			108
HP:0000496	HP:0000496	Abnormality of eye movement	0	RBPJ CL E G H	3516	5724	ORPHA:974	Adams-Oliver syndrome			3
HP:0000496	HP:0000496	Abnormality of eye movement	0	RD3 CL E G H	343035	19689	ORPHA:65	Leber congenital amaurosis			95
HP:0000496	HP:0000496	Abnormality of eye movement	0	RD3 CL E G H	343035	19689	OMIM:610612	Leber congenital amaurosis 12			95
HP:0000496	HP:0000496	Abnormality of eye movement	0	RDH12 CL E G H	145226	19977	ORPHA:65	Leber congenital amaurosis			45
HP:0000496	HP:0000496	Abnormality of eye movement	0	RDH12 CL E G H	145226	19977	ORPHA:791	Retinitis pigmentosa			45
HP:0000496	HP:0000496	Abnormality of eye movement	0	RECQL4 CL E G H	9401	9949	OMIM:218600	Baller-Gerold syndrome			445
HP:0000496	HP:0000496	Abnormality of eye movement	0	RECQL4 CL E G H	9401	9949	ORPHA:1225	Baller-Gerold syndrome			445
HP:0000496	HP:0000496	Abnormality of eye movement	0	RECQL4 CL E G H	9401	9949	OMIM:268400	ROTHMUND-THOMSON SYNDROME; RTS			445
HP:0000496	HP:0000496	Abnormality of eye movement	0	REEP6 CL E G H	92840	30078	ORPHA:791	Retinitis pigmentosa			5
HP:0000496	HP:0000496	Abnormality of eye movement	0	REPS1 CL E G H	85021	15578	OMIM:617916	Neurodegeneration with brain iron accumulation 7
HP:0000496	HP:0000496	Abnormality of eye movement	0	RERE CL E G H	473	9965	ORPHA:1606	1p36 deletion syndrome			16
HP:0000496	HP:0000496	Abnormality of eye movement	0	RERE CL E G H	473	9965	OMIM:616975	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart			16
HP:0000496	HP:0000496	Abnormality of eye movement	0	RERE CL E G H	473	9965	ORPHA:494344	RERE-related neurodevelopmental syndrome			16
HP:0000496	HP:0000496	Abnormality of eye movement	0	RET CL E G H	5979	9967	ORPHA:99803	Haddad syndrome			572
HP:0000496	HP:0000496	Abnormality of eye movement	0	REV3L CL E G H	5980	9968	ORPHA:570	Moebius syndrome			3
HP:0000496	HP:0000496	Abnormality of eye movement	0	RFC1 CL E G H	5981	9969	OMIM:614575	Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome
HP:0000496	HP:0000496	Abnormality of eye movement	0	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome
HP:0000496	HP:0000496	Abnormality of eye movement	0	RFWD3 CL E G H	55159	25539	ORPHA:84	Fanconi anemia
HP:0000496	HP:0000496	Abnormality of eye movement	0	RGR CL E G H	5995	9990	ORPHA:791	Retinitis pigmentosa			28
HP:0000496	HP:0000496	Abnormality of eye movement	0	RHO CL E G H	6010	10012	ORPHA:215	Congenital stationary night blindness			107
HP:0000496	HP:0000496	Abnormality of eye movement	0	RHO CL E G H	6010	10012	ORPHA:791	Retinitis pigmentosa			107
HP:0000496	HP:0000496	Abnormality of eye movement	0	RHOA CL E G H	387	667	OMIM:618727	ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES; EDFAOB			8
HP:0000496	HP:0000496	Abnormality of eye movement	0	RIC1 CL E G H	57589	17686	OMIM:618761	CATIFA SYNDROME; CATIFA
HP:0000496	HP:0000496	Abnormality of eye movement	0	RILPL1 CL E G H	353116	26814	OMIM:619790	OCULOPHARYNGODISTAL MYOPATHY 4; OPDM4
HP:0000496	HP:0000496	Abnormality of eye movement	0	RIMS2 CL E G H	9699	17283	OMIM:618970	CONE-ROD SYNAPTIC DISORDER SYNDROME, CONGENITAL NONPROGRESSIVE; CRSDS			2
HP:0000496	HP:0000496	Abnormality of eye movement	0	RIT1 CL E G H	6016	10023	ORPHA:648	Noonan syndrome			39
HP:0000496	HP:0000496	Abnormality of eye movement	0	RLBP1 CL E G H	6017	10024	ORPHA:791	Retinitis pigmentosa			47
HP:0000496	HP:0000496	Abnormality of eye movement	0	RMRP CL E G H	6023	10031	ORPHA:175	Cartilage-hair hypoplasia			37
HP:0000496	HP:0000496	Abnormality of eye movement	0	RNASEH1 CL E G H	246243	18466	ORPHA:329336	Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy			3
HP:0000496	HP:0000496	Abnormality of eye movement	0	RNASEH1 CL E G H	246243	18466	OMIM:616479	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2			3
HP:0000496	HP:0000496	Abnormality of eye movement	0	RNASEH2A CL E G H	10535	18518	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional		33
HP:0000496	HP:0000496	Abnormality of eye movement	0	RNASEH2B CL E G H	79621	25671	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional		34
HP:0000496	HP:0000496	Abnormality of eye movement	0	RNASEH2C CL E G H	84153	24116	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional		60
HP:0000496	HP:0000496	Abnormality of eye movement	0	RNASEH2C CL E G H	84153	24116	OMIM:610329	Aicardi-Goutieres syndrome 3			60
HP:0000496	HP:0000496	Abnormality of eye movement	0	RNASET2 CL E G H	8635	21686	OMIM:612951	Leukoencephalopathy, cystic, without megalencephaly			37
HP:0000496	HP:0000496	Abnormality of eye movement	0	RNF113A CL E G H	7737	12974	ORPHA:33364	Trichothiodystrophy			3
HP:0000496	HP:0000496	Abnormality of eye movement	0	RNF13 CL E G H	11342	10057	ORPHA:544503	RNF13-related severe early-onset epileptic encephalopathy	HP:0040282 - Frequent
HP:0000496	HP:0000496	Abnormality of eye movement	0	RNF135 CL E G H	84282	21158	ORPHA:137634	Overgrowth-macrocephaly-facial dysmorphism syndrome			11
HP:0000496	HP:0000496	Abnormality of eye movement	0	RNF170 CL E G H	81790	25358	OMIM:619686	SPASTIC PARAPLEGIA 85, AUTOSOMAL RECESSIVE; SPG85			3
HP:0000496	HP:0000496	Abnormality of eye movement	0	RNF2 CL E G H	6045	10061	OMIM:619460	LUO-SCHOCH-YAMAMOTO SYNDROME; LUSYAM
HP:0000496	HP:0000496	Abnormality of eye movement	0	RNF216 CL E G H	54476	21698	ORPHA:1173	Cerebellar ataxia-hypogonadism syndrome			10
HP:0000496	HP:0000496	Abnormality of eye movement	0	RNU12 CL E G H	267010	19380	ORPHA:512260	Congenital cerebellar ataxia due to RNU12 mutation
HP:0000496	HP:0000496	Abnormality of eye movement	0	RNU4ATAC CL E G H	100151683	34016	OMIM:226960	EPIPHYSEAL DYSPLASIA, MICROCEPHALY, AND NYSTAGMUS			15
HP:0000496	HP:0000496	Abnormality of eye movement	0	RNU4ATAC CL E G H	100151683	34016	ORPHA:1824	Lowry-Wood syndrome			15
HP:0000496	HP:0000496	Abnormality of eye movement	0	RNU7-1 CL E G H	100147744	34033	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional
HP:0000496	HP:0000496	Abnormality of eye movement	0	RNU7-1 CL E G H	100147744	34033	OMIM:619487	AICARDI-GOUTIERES SYNDROME 9; AGS9
HP:0000496	HP:0000496	Abnormality of eye movement	0	ROBO3 CL E G H	64221	13433	OMIM:607313	Gaze palsy, familial horizontal, with progressive scoliosis, 1			90
HP:0000496	HP:0000496	Abnormality of eye movement	0	ROBO3 CL E G H	64221	13433	ORPHA:2744	Horizontal gaze palsy with progressive scoliosis			90
HP:0000496	HP:0000496	Abnormality of eye movement	0	ROM1 CL E G H	6094	10254	ORPHA:791	Retinitis pigmentosa			38
HP:0000496	HP:0000496	Abnormality of eye movement	0	ROR2 CL E G H	4920	10257	ORPHA:1507	Autosomal recessive Robinow syndrome			120
HP:0000496	HP:0000496	Abnormality of eye movement	0	RORA CL E G H	6095	10258	OMIM:618060	INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT EPILEPSY OR CEREBELLAR ATAXIA; IDDECA			1
HP:0000496	HP:0000496	Abnormality of eye movement	0	RP1 CL E G H	6101	10263	ORPHA:791	Retinitis pigmentosa			111
HP:0000496	HP:0000496	Abnormality of eye movement	0	RP1L1 CL E G H	94137	15946	ORPHA:791	Retinitis pigmentosa			284
HP:0000496	HP:0000496	Abnormality of eye movement	0	RP1L1 CL E G H	94137	15946	OMIM:618826	RETINITIS PIGMENTOSA 88; RP88			284
HP:0000496	HP:0000496	Abnormality of eye movement	0	RP2 CL E G H	6102	10274	ORPHA:791	Retinitis pigmentosa			45
HP:0000496	HP:0000496	Abnormality of eye movement	0	RP9 CL E G H	6100	10288	ORPHA:791	Retinitis pigmentosa			14
HP:0000496	HP:0000496	Abnormality of eye movement	0	RPE65 CL E G H	6121	10294	ORPHA:65	Leber congenital amaurosis			129
HP:0000496	HP:0000496	Abnormality of eye movement	0	RPE65 CL E G H	6121	10294	OMIM:204100	Leber congenital amaurosis, type II			129
HP:0000496	HP:0000496	Abnormality of eye movement	0	RPE65 CL E G H	6121	10294	ORPHA:791	Retinitis pigmentosa			129
HP:0000496	HP:0000496	Abnormality of eye movement	0	RPE65 CL E G H	6121	10294	OMIM:613794	Retinitis pigmentosa 20			129
HP:0000496	HP:0000496	Abnormality of eye movement	0	RPE65 CL E G H	6121	10294	ORPHA:364055	Severe early-childhood-onset retinal dystrophy			129
HP:0000496	HP:0000496	Abnormality of eye movement	0	RPGR CL E G H	6103	10295	ORPHA:49382	Achromatopsia			200
HP:0000496	HP:0000496	Abnormality of eye movement	0	RPGR CL E G H	6103	10295	OMIM:304020	Cone-rod dystrophy, X-linked, 1			200
HP:0000496	HP:0000496	Abnormality of eye movement	0	RPGR CL E G H	6103	10295	ORPHA:791	Retinitis pigmentosa			200
HP:0000496	HP:0000496	Abnormality of eye movement	0	RPGRIP1 CL E G H	57096	13436	ORPHA:65	Leber congenital amaurosis			109
HP:0000496	HP:0000496	Abnormality of eye movement	0	RPGRIP1 CL E G H	57096	13436	OMIM:613826	Leber congenital amaurosis 6			109
HP:0000496	HP:0000496	Abnormality of eye movement	0	RPGRIP1L CL E G H	23322	29168	OMIM:619113	COACH SYNDROME 3; COACH3			167
HP:0000496	HP:0000496	Abnormality of eye movement	0	RPGRIP1L CL E G H	23322	29168	OMIM:611560	Joubert syndrome 7			167
HP:0000496	HP:0000496	Abnormality of eye movement	0	RPGRIP1L CL E G H	23322	29168	ORPHA:1454	Joubert syndrome with hepatic defect			167
HP:0000496	HP:0000496	Abnormality of eye movement	0	RPGRIP1L CL E G H	23322	29168	ORPHA:220497	Joubert syndrome with renal defect			167
HP:0000496	HP:0000496	Abnormality of eye movement	0	RPIA CL E G H	22934	10297	OMIM:608611	Ribose 5-phosphate isomerase deficiency			18
HP:0000496	HP:0000496	Abnormality of eye movement	0	RPL10 CL E G H	6134	10298	ORPHA:459070	X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome			10
HP:0000496	HP:0000496	Abnormality of eye movement	0	RPL11 CL E G H	6135	10301	ORPHA:124	Blackfan-Diamond anemia			22
HP:0000496	HP:0000496	Abnormality of eye movement	0	RPL15 CL E G H	6138	10306	ORPHA:124	Blackfan-Diamond anemia			3
HP:0000496	HP:0000496	Abnormality of eye movement	0	RPL18 CL E G H	6141	10310	ORPHA:124	Blackfan-Diamond anemia
HP:0000496	HP:0000496	Abnormality of eye movement	0	RPL26 CL E G H	6154	10327	ORPHA:124	Blackfan-Diamond anemia			3
HP:0000496	HP:0000496	Abnormality of eye movement	0	RPL27 CL E G H	6155	10328	ORPHA:124	Blackfan-Diamond anemia			1
HP:0000496	HP:0000496	Abnormality of eye movement	0	RPL31 CL E G H	6160	10334	ORPHA:124	Blackfan-Diamond anemia
HP:0000496	HP:0000496	Abnormality of eye movement	0	RPL35 CL E G H	11224	10344	ORPHA:124	Blackfan-Diamond anemia
HP:0000496	HP:0000496	Abnormality of eye movement	0	RPL35A CL E G H	6165	10345	ORPHA:124	Blackfan-Diamond anemia			11
HP:0000496	HP:0000496	Abnormality of eye movement	0	RPL5 CL E G H	6125	10360	ORPHA:124	Blackfan-Diamond anemia			40
HP:0000496	HP:0000496	Abnormality of eye movement	0	RPS10 CL E G H	6204	10383	ORPHA:124	Blackfan-Diamond anemia			26
HP:0000496	HP:0000496	Abnormality of eye movement	0	RPS15A CL E G H	6210	10389	ORPHA:124	Blackfan-Diamond anemia
HP:0000496	HP:0000496	Abnormality of eye movement	0	RPS17 CL E G H	6218	10397	ORPHA:124	Blackfan-Diamond anemia			5
HP:0000496	HP:0000496	Abnormality of eye movement	0	RPS19 CL E G H	6223	10402	ORPHA:124	Blackfan-Diamond anemia			42
HP:0000496	HP:0000496	Abnormality of eye movement	0	RPS19 CL E G H	6223	10402	OMIM:105650	Diamond-Blackfan anemia 1			42
HP:0000496	HP:0000496	Abnormality of eye movement	0	RPS20 CL E G H	6224	10405	ORPHA:124	Blackfan-Diamond anemia			1
HP:0000496	HP:0000496	Abnormality of eye movement	0	RPS24 CL E G H	6229	10411	ORPHA:124	Blackfan-Diamond anemia			22
HP:0000496	HP:0000496	Abnormality of eye movement	0	RPS26 CL E G H	6231	10414	ORPHA:124	Blackfan-Diamond anemia			20
HP:0000496	HP:0000496	Abnormality of eye movement	0	RPS27 CL E G H	6232	10416	ORPHA:124	Blackfan-Diamond anemia			1
HP:0000496	HP:0000496	Abnormality of eye movement	0	RPS28 CL E G H	6234	10418	ORPHA:124	Blackfan-Diamond anemia			1
HP:0000496	HP:0000496	Abnormality of eye movement	0	RPS29 CL E G H	6235	10419	ORPHA:124	Blackfan-Diamond anemia			3
HP:0000496	HP:0000496	Abnormality of eye movement	0	RPS6KA3 CL E G H	6197	10432	ORPHA:192	Coffin-Lowry syndrome			65
HP:0000496	HP:0000496	Abnormality of eye movement	0	RPS7 CL E G H	6201	10440	ORPHA:124	Blackfan-Diamond anemia			20
HP:0000496	HP:0000496	Abnormality of eye movement	0	RRAS CL E G H	6237	10447	ORPHA:648	Noonan syndrome
HP:0000496	HP:0000496	Abnormality of eye movement	0	RRAS2 CL E G H	22800	17271	ORPHA:648	Noonan syndrome			1
HP:0000496	HP:0000496	Abnormality of eye movement	0	RRAS2 CL E G H	22800	17271	OMIM:618624	NOONAN SYNDROME 12; NS12			1
HP:0000496	HP:0000496	Abnormality of eye movement	0	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome
HP:0000496	HP:0000496	Abnormality of eye movement	0	RRM2B CL E G H	50484	17296	ORPHA:329336	Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy			125
HP:0000496	HP:0000496	Abnormality of eye movement	0	RRM2B CL E G H	50484	17296	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040282 - Frequent		125
HP:0000496	HP:0000496	Abnormality of eye movement	0	RRM2B CL E G H	50484	17296	ORPHA:480	Kearns-Sayre syndrome			125
HP:0000496	HP:0000496	Abnormality of eye movement	0	RRM2B CL E G H	50484	17296	OMIM:612075	Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy)			125
HP:0000496	HP:0000496	Abnormality of eye movement	0	RRM2B CL E G H	50484	17296	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy			125
HP:0000496	HP:0000496	Abnormality of eye movement	0	RRM2B CL E G H	50484	17296	OMIM:613077	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5			125
HP:0000496	HP:0000496	Abnormality of eye movement	0	RS1 CL E G H	6247	10457	ORPHA:792	X-linked retinoschisis	HP:0040281 - Very frequent		148
HP:0000496	HP:0000496	Abnormality of eye movement	0	RSPRY1 CL E G H	89970	29420	ORPHA:457395	Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome			2
HP:0000496	HP:0000496	Abnormality of eye movement	0	RSPRY1 CL E G H	89970	29420	OMIM:616723	Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type			2
HP:0000496	HP:0000496	Abnormality of eye movement	0	RTL1 CL E G H	388015	14665	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion
HP:0000496	HP:0000496	Abnormality of eye movement	0	RTN4IP1 CL E G H	84816	18647	OMIM:616732	OPTIC ATROPHY 10 WITH OR WITHOUT ATAXIA, MENTAL RETARDATION, AND SEIZURES; OPA10			2
HP:0000496	HP:0000496	Abnormality of eye movement	0	RUBCN CL E G H	9711	28991	ORPHA:404499	Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency			9
HP:0000496	HP:0000496	Abnormality of eye movement	0	RUBCN CL E G H	9711	28991	OMIM:615705	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 15; SCAR15			9
HP:0000496	HP:0000496	Abnormality of eye movement	0	RYR1 CL E G H	6261	10483	ORPHA:169189	Autosomal dominant centronuclear myopathy			1200
HP:0000496	HP:0000496	Abnormality of eye movement	0	RYR1 CL E G H	6261	10483	ORPHA:169186	Autosomal recessive centronuclear myopathy			1200
HP:0000496	HP:0000496	Abnormality of eye movement	0	RYR1 CL E G H	6261	10483	ORPHA:597	Central core disease			1200
HP:0000496	HP:0000496	Abnormality of eye movement	0	RYR1 CL E G H	6261	10483	ORPHA:98905	Congenital multicore myopathy with external ophthalmoplegia			1200
HP:0000496	HP:0000496	Abnormality of eye movement	0	RYR1 CL E G H	6261	10483	ORPHA:424107	Congenital myopathy with myasthenic-like onset			1200
HP:0000496	HP:0000496	Abnormality of eye movement	0	RYR1 CL E G H	6261	10483	OMIM:255320	Minicore myopathy with external ophthalmoplegia			1200
HP:0000496	HP:0000496	Abnormality of eye movement	0	RYR1 CL E G H	6261	10483	OMIM:255310	Myopathy, congenital, with fiber-type disproportion			1200
HP:0000496	HP:0000496	Abnormality of eye movement	0	SACS CL E G H	26278	10519	ORPHA:98	Autosomal recessive spastic ataxia of Charlevoix-Saguenay			309
HP:0000496	HP:0000496	Abnormality of eye movement	0	SACS CL E G H	26278	10519	OMIM:270550	Spastic ataxia, Charlevoix-Saguenay type			309
HP:0000496	HP:0000496	Abnormality of eye movement	0	SAG CL E G H	6295	10521	ORPHA:215	Congenital stationary night blindness			32
HP:0000496	HP:0000496	Abnormality of eye movement	0	SAG CL E G H	6295	10521	ORPHA:75382	Oguchi disease			32
HP:0000496	HP:0000496	Abnormality of eye movement	0	SAG CL E G H	6295	10521	ORPHA:791	Retinitis pigmentosa			32
HP:0000496	HP:0000496	Abnormality of eye movement	0	SALL1 CL E G H	6299	10524	ORPHA:857	Townes-Brocks syndrome			124
HP:0000496	HP:0000496	Abnormality of eye movement	0	SALL1 CL E G H	6299	10524	OMIM:107480	Townes-Brocks syndrome 1			124
HP:0000496	HP:0000496	Abnormality of eye movement	0	SALL2 CL E G H	6297	10526	OMIM:216820	COLOBOMA, OCULAR, AUTOSOMAL RECESSIVE			1
HP:0000496	HP:0000496	Abnormality of eye movement	0	SALL4 CL E G H	57167	15924	ORPHA:959	Acro-renal-ocular syndrome			86
HP:0000496	HP:0000496	Abnormality of eye movement	0	SALL4 CL E G H	57167	15924	ORPHA:233	Duane retraction syndrome	HP:0040281 - Very frequent		86
HP:0000496	HP:0000496	Abnormality of eye movement	0	SALL4 CL E G H	57167	15924	OMIM:607323	Duane-Radial ray syndrome			86
HP:0000496	HP:0000496	Abnormality of eye movement	0	SALL4 CL E G H	57167	15924	OMIM:147750	Ivic syndrome			86
HP:0000496	HP:0000496	Abnormality of eye movement	0	SALL4 CL E G H	57167	15924	ORPHA:2307	IVIC syndrome			86
HP:0000496	HP:0000496	Abnormality of eye movement	0	SAMD9L CL E G H	219285	1349	OMIM:159550	Ataxia-Pancytopenia syndrome			4
HP:0000496	HP:0000496	Abnormality of eye movement	0	SAMD9L CL E G H	219285	1349	ORPHA:2585	Ataxia-pancytopenia syndrome			4
HP:0000496	HP:0000496	Abnormality of eye movement	0	SAMD9L CL E G H	219285	1349	OMIM:619806	SPINOCEREBELLAR ATAXIA 49; SCA49			4
HP:0000496	HP:0000496	Abnormality of eye movement	0	SAMHD1 CL E G H	25939	15925	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional		55
HP:0000496	HP:0000496	Abnormality of eye movement	0	SARDH CL E G H	1757	10536	ORPHA:3129	Sarcosinemia			4
HP:0000496	HP:0000496	Abnormality of eye movement	0	SATB2 CL E G H	23314	21637	ORPHA:251019	2q32q33 microdeletion syndrome			34
HP:0000496	HP:0000496	Abnormality of eye movement	0	SATB2 CL E G H	23314	21637	ORPHA:251028	SATB2-associated syndrome due to a chromosomal rearrangement			34
HP:0000496	HP:0000496	Abnormality of eye movement	0	SATB2 CL E G H	23314	21637	ORPHA:576283	SATB2-associated syndrome due to a pathogenic variant			34
HP:0000496	HP:0000496	Abnormality of eye movement	0	SBF1 CL E G H	6305	10542	OMIM:615284	Charcot-Marie-Tooth disease, type 4B3			16
HP:0000496	HP:0000496	Abnormality of eye movement	0	SCAPER CL E G H	49855	13081	ORPHA:110	Bardet-Biedl syndrome
HP:0000496	HP:0000496	Abnormality of eye movement	0	SCAPER CL E G H	49855	13081	ORPHA:791	Retinitis pigmentosa
HP:0000496	HP:0000496	Abnormality of eye movement	0	SCN1A CL E G H	6323	10585	OMIM:619317	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 6B; DEE6B			1053
HP:0000496	HP:0000496	Abnormality of eye movement	0	SCN1A CL E G H	6323	10585	ORPHA:569	Familial or sporadic hemiplegic migraine			1053
HP:0000496	HP:0000496	Abnormality of eye movement	0	SCN1B CL E G H	6324	10586	ORPHA:1934	Early infantile epileptic encephalopathy			126
HP:0000496	HP:0000496	Abnormality of eye movement	0	SCN2A CL E G H	6326	10588	ORPHA:1934	Early infantile epileptic encephalopathy			427
HP:0000496	HP:0000496	Abnormality of eye movement	0	SCN2A CL E G H	6326	10588	OMIM:618924	EPISODIC ATAXIA, TYPE 9; EA9			427
HP:0000496	HP:0000496	Abnormality of eye movement	0	SCN3A CL E G H	6328	10590	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			70
HP:0000496	HP:0000496	Abnormality of eye movement	0	SCN4A CL E G H	6329	10591	ORPHA:99736	Acetazolamide-responsive myotonia			263
HP:0000496	HP:0000496	Abnormality of eye movement	0	SCN4A CL E G H	6329	10591	ORPHA:682	Hyperkalemic periodic paralysis			263
HP:0000496	HP:0000496	Abnormality of eye movement	0	SCN4A CL E G H	6329	10591	OMIM:614198	Myasthenic syndrome, congenital, 16			263
HP:0000496	HP:0000496	Abnormality of eye movement	0	SCN4A CL E G H	6329	10591	ORPHA:99734	Myotonia fluctuans			263
HP:0000496	HP:0000496	Abnormality of eye movement	0	SCN4A CL E G H	6329	10591	ORPHA:99735	Myotonia permanens			263
HP:0000496	HP:0000496	Abnormality of eye movement	0	SCN4A CL E G H	6329	10591	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent		263
HP:0000496	HP:0000496	Abnormality of eye movement	0	SCN8A CL E G H	6334	10596	OMIM:614306	Cognitive impairment with or without cerebellar ataxia			357
HP:0000496	HP:0000496	Abnormality of eye movement	0	SCN8A CL E G H	6334	10596	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			357
HP:0000496	HP:0000496	Abnormality of eye movement	0	SCNM1 CL E G H	79005	23136	OMIM:620107
HP:0000496	HP:0000496	Abnormality of eye movement	0	SCO2 CL E G H	9997	10604	ORPHA:521411	Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect			40
HP:0000496	HP:0000496	Abnormality of eye movement	0	SCO2 CL E G H	9997	10604	OMIM:604377	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1			40
HP:0000496	HP:0000496	Abnormality of eye movement	0	SCO2 CL E G H	9997	10604	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040282 - Frequent		40
HP:0000496	HP:0000496	Abnormality of eye movement	0	SCP2 CL E G H	6342	10606	OMIM:613724	Leukoencephalopathy with dystonia and motor neuropathy			4
HP:0000496	HP:0000496	Abnormality of eye movement	0	SCUBE3 CL E G H	222663	13655	OMIM:619184	SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES 2; SSFSC2			1
HP:0000496	HP:0000496	Abnormality of eye movement	0	SCYL1 CL E G H	57410	14372	ORPHA:466794	Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome			5
HP:0000496	HP:0000496	Abnormality of eye movement	0	SDCCAG8 CL E G H	10806	10671	ORPHA:110	Bardet-Biedl syndrome			61
HP:0000496	HP:0000496	Abnormality of eye movement	0	SDHA CL E G H	6389	10680	ORPHA:3208	Isolated succinate-CoQ reductase deficiency			304
HP:0000496	HP:0000496	Abnormality of eye movement	0	SDHA CL E G H	6389	10680	ORPHA:255241	Leigh syndrome with leukodystrophy			304
HP:0000496	HP:0000496	Abnormality of eye movement	0	SDHA CL E G H	6389	10680	OMIM:252011	Mitochondrial complex II deficiency			304
HP:0000496	HP:0000496	Abnormality of eye movement	0	SDHA CL E G H	6389	10680	OMIM:619259	NEURODEGENERATION WITH ATAXIA AND LATE-ONSET OPTIC ATROPHY; NDAXOA			304
HP:0000496	HP:0000496	Abnormality of eye movement	0	SDHAF1 CL E G H	644096	33867	ORPHA:3208	Isolated succinate-CoQ reductase deficiency			16
HP:0000496	HP:0000496	Abnormality of eye movement	0	SDHB CL E G H	6390	10681	ORPHA:3208	Isolated succinate-CoQ reductase deficiency			237
HP:0000496	HP:0000496	Abnormality of eye movement	0	SDHD CL E G H	6392	10683	ORPHA:3208	Isolated succinate-CoQ reductase deficiency			129
HP:0000496	HP:0000496	Abnormality of eye movement	0	SDHD CL E G H	6392	10683	OMIM:619167	MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 3; MC2DN3			129
HP:0000496	HP:0000496	Abnormality of eye movement	0	SEC23A CL E G H	10484	10701	OMIM:607812	Craniolenticulosutural dysplasia			2
HP:0000496	HP:0000496	Abnormality of eye movement	0	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome
HP:0000496	HP:0000496	Abnormality of eye movement	0	SELENON CL E G H	57190	15999	ORPHA:2020	Congenital fiber-type disproportion myopathy			144
HP:0000496	HP:0000496	Abnormality of eye movement	0	SELENON CL E G H	57190	15999	OMIM:255310	Myopathy, congenital, with fiber-type disproportion			144
HP:0000496	HP:0000496	Abnormality of eye movement	0	SEMA3A CL E G H	10371	10723	ORPHA:478	Kallmann syndrome			14
HP:0000496	HP:0000496	Abnormality of eye movement	0	SEMA3E CL E G H	9723	10727	ORPHA:138	CHARGE syndrome			16
HP:0000496	HP:0000496	Abnormality of eye movement	0	SEMA4A CL E G H	64218	10729	ORPHA:791	Retinitis pigmentosa			48
HP:0000496	HP:0000496	Abnormality of eye movement	0	SEPSECS CL E G H	51091	30605	OMIM:613811	Pontocerebellar hypoplasia, type 2D			66
HP:0000496	HP:0000496	Abnormality of eye movement	0	SERPINI1 CL E G H	5274	8943	OMIM:604218	Encephalopathy, familial, with neuroserpin inclusion bodies			28
HP:0000496	HP:0000496	Abnormality of eye movement	0	SET CL E G H	6418	10760	OMIM:618106	Mental retardation, autosomal dominant 58			1
HP:0000496	HP:0000496	Abnormality of eye movement	0	SETBP1 CL E G H	26040	15573	OMIM:616078	Mental retardation, autosomal dominant 29			143
HP:0000496	HP:0000496	Abnormality of eye movement	0	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome			60
HP:0000496	HP:0000496	Abnormality of eye movement	0	SETD5 CL E G H	55209	25566	ORPHA:404440	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency			43
HP:0000496	HP:0000496	Abnormality of eye movement	0	SETD5 CL E G H	55209	25566	OMIM:615761	MENTAL RETARDATION, AUTOSOMAL DOMINANT 23; MRD23			43
HP:0000496	HP:0000496	Abnormality of eye movement	0	SETX CL E G H	23064	445	ORPHA:64753	Spinocerebellar ataxia with axonal neuropathy type 2			162
HP:0000496	HP:0000496	Abnormality of eye movement	0	SETX CL E G H	23064	445	OMIM:606002	Spinocerebellar ataxia, autosomal recessive 1			162
HP:0000496	HP:0000496	Abnormality of eye movement	0	SF3B2 CL E G H	10992	10769	OMIM:164210	Hemifacial microsomia			2
HP:0000496	HP:0000496	Abnormality of eye movement	0	SGPL1 CL E G H	8879	10817	OMIM:617575	Nephrotic syndrome, type 14			8
HP:0000496	HP:0000496	Abnormality of eye movement	0	SH3TC2 CL E G H	79628	29427	ORPHA:99949	Charcot-Marie-Tooth disease type 4C			493
HP:0000496	HP:0000496	Abnormality of eye movement	0	SH3TC2 CL E G H	79628	29427	OMIM:601596	Charcot-Marie-Tooth disease, type 4C			493
HP:0000496	HP:0000496	Abnormality of eye movement	0	SHANK3 CL E G H	85358	14294	ORPHA:48652	Monosomy 22q13.3			53
HP:0000496	HP:0000496	Abnormality of eye movement	0	SHANK3 CL E G H	85358	14294	OMIM:606232	Phelan-Mcdermid syndrome			53
HP:0000496	HP:0000496	Abnormality of eye movement	0	SHH CL E G H	6469	10848	ORPHA:280200	Microform holoprosencephaly			67
HP:0000496	HP:0000496	Abnormality of eye movement	0	SHMT2 CL E G H	6472	10852	OMIM:619121	NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES; NEDCASB
HP:0000496	HP:0000496	Abnormality of eye movement	0	SHOC2 CL E G H	8036	15454	OMIM:607721	Noonan syndrome-like with loose anagen hair 1			74
HP:0000496	HP:0000496	Abnormality of eye movement	0	SHROOM4 CL E G H	57477	29215	ORPHA:85288	X-linked intellectual disability, Stocco Dos Santos type			42
HP:0000496	HP:0000496	Abnormality of eye movement	0	SIAH1 CL E G H	6477	10857	OMIM:619314	BURATTI-HAREL SYNDROME; BURHAS
HP:0000496	HP:0000496	Abnormality of eye movement	0	SIGMAR1 CL E G H	10280	8157	ORPHA:300605	Juvenile amyotrophic lateral sclerosis			6
HP:0000496	HP:0000496	Abnormality of eye movement	0	SIK1 CL E G H	150094	11142	ORPHA:1934	Early infantile epileptic encephalopathy			11
HP:0000496	HP:0000496	Abnormality of eye movement	0	SIL1 CL E G H	64374	24624	ORPHA:559	Marinesco-Sjögren syndrome			67
HP:0000496	HP:0000496	Abnormality of eye movement	0	SIL1 CL E G H	64374	24624	OMIM:248800	Marinesco-Sjogren syndrome			67
HP:0000496	HP:0000496	Abnormality of eye movement	0	SIM1 CL E G H	6492	10882	ORPHA:171829	6q16 microdeletion syndrome			40
HP:0000496	HP:0000496	Abnormality of eye movement	0	SIM1 CL E G H	6492	10882	ORPHA:398079	SIM1-related Prader-Willi-like syndrome			40
HP:0000496	HP:0000496	Abnormality of eye movement	0	SIN3A CL E G H	25942	19353	ORPHA:94065	15q24 microdeletion syndrome			9
HP:0000496	HP:0000496	Abnormality of eye movement	0	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome			9
HP:0000496	HP:0000496	Abnormality of eye movement	0	SIX3 CL E G H	6496	10889	ORPHA:280200	Microform holoprosencephaly			32
HP:0000496	HP:0000496	Abnormality of eye movement	0	SIX6 CL E G H	4990	10892	ORPHA:35612	Nanophthalmos			20
HP:0000496	HP:0000496	Abnormality of eye movement	0	SIX6 CL E G H	4990	10892	OMIM:212550	Optic disc anomalies with retinal and/or macular dystrophy			20
HP:0000496	HP:0000496	Abnormality of eye movement	0	SKI CL E G H	6497	10896	ORPHA:1606	1p36 deletion syndrome			150
HP:0000496	HP:0000496	Abnormality of eye movement	0	SKI CL E G H	6497	10896	OMIM:182212	Shprintzen-Goldberg craniosynostosis syndrome			150
HP:0000496	HP:0000496	Abnormality of eye movement	0	SKI CL E G H	6497	10896	ORPHA:2462	Shprintzen-Goldberg syndrome			150
HP:0000496	HP:0000496	Abnormality of eye movement	0	SLC12A6 CL E G H	9990	10914	OMIM:218000	Agenesis of the corpus callosum with peripheral neuropathy			163
HP:0000496	HP:0000496	Abnormality of eye movement	0	SLC12A6 CL E G H	9990	10914	ORPHA:1496	Corpus callosum agenesis-neuronopathy syndrome			163
HP:0000496	HP:0000496	Abnormality of eye movement	0	SLC13A5 CL E G H	284111	23089	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			73
HP:0000496	HP:0000496	Abnormality of eye movement	0	SLC16A2 CL E G H	6567	10923	ORPHA:59	Allan-Herndon-Dudley syndrome			57
HP:0000496	HP:0000496	Abnormality of eye movement	0	SLC16A2 CL E G H	6567	10923	OMIM:300523	Allan-Herndon-Dudley syndrome			57
HP:0000496	HP:0000496	Abnormality of eye movement	0	SLC17A5 CL E G H	26503	10933	OMIM:269920	Infantile sialic acid storage disease			78
HP:0000496	HP:0000496	Abnormality of eye movement	0	SLC17A5 CL E G H	26503	10933	OMIM:604369	Salla disease			78
HP:0000496	HP:0000496	Abnormality of eye movement	0	SLC18A2 CL E G H	6571	10935	ORPHA:352649	Brain dopamine-serotonin vesicular transport disease	HP:0040281 - Very frequent		2
HP:0000496	HP:0000496	Abnormality of eye movement	0	SLC18A3 CL E G H	6572	10936	OMIM:617239	Myasthenic syndrome, congenital, 21, presynaptic			2
HP:0000496	HP:0000496	Abnormality of eye movement	0	SLC18A3 CL E G H	6572	10936	ORPHA:98914	Presynaptic congenital myasthenic syndromes			2
HP:0000496	HP:0000496	Abnormality of eye movement	0	SLC19A2 CL E G H	10560	10938	OMIM:249270	Thiamine-Responsive megaloblastic anemia syndrome			55
HP:0000496	HP:0000496	Abnormality of eye movement	0	SLC19A3 CL E G H	80704	16266	ORPHA:255241	Leigh syndrome with leukodystrophy			110
HP:0000496	HP:0000496	Abnormality of eye movement	0	SLC19A3 CL E G H	80704	16266	OMIM:607483	Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2)			110
HP:0000496	HP:0000496	Abnormality of eye movement	0	SLC1A2 CL E G H	6506	10940	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			3
HP:0000496	HP:0000496	Abnormality of eye movement	0	SLC1A3 CL E G H	6507	10941	ORPHA:2131	Alternating hemiplegia of childhood			63
HP:0000496	HP:0000496	Abnormality of eye movement	0	SLC1A3 CL E G H	6507	10941	ORPHA:209967	Episodic ataxia type 6			63
HP:0000496	HP:0000496	Abnormality of eye movement	0	SLC1A3 CL E G H	6507	10941	OMIM:612656	Episodic ataxia, type 6			63
HP:0000496	HP:0000496	Abnormality of eye movement	0	SLC24A1 CL E G H	9187	10975	ORPHA:215	Congenital stationary night blindness			66
HP:0000496	HP:0000496	Abnormality of eye movement	0	SLC24A5 CL E G H	283652	20611	OMIM:113750	Albinism, oculocutaneous, type VI			12
HP:0000496	HP:0000496	Abnormality of eye movement	0	SLC24A5 CL E G H	283652	20611	ORPHA:370097	Oculocutaneous albinism type 6			12
HP:0000496	HP:0000496	Abnormality of eye movement	0	SLC25A1 CL E G H	6576	10979	ORPHA:98914	Presynaptic congenital myasthenic syndromes			28
HP:0000496	HP:0000496	Abnormality of eye movement	0	SLC25A20 CL E G H	788	1421	ORPHA:159	Carnitine-acylcarnitine translocase deficiency			40
HP:0000496	HP:0000496	Abnormality of eye movement	0	SLC25A22 CL E G H	79751	19954	ORPHA:1934	Early infantile epileptic encephalopathy			166
HP:0000496	HP:0000496	Abnormality of eye movement	0	SLC25A24 CL E G H	29957	20662	ORPHA:2095	Gorlin-Chaudhry-Moss syndrome
HP:0000496	HP:0000496	Abnormality of eye movement	0	SLC25A24 CL E G H	29957	20662	ORPHA:2963	Progeroid syndrome, Petty type
HP:0000496	HP:0000496	Abnormality of eye movement	0	SLC25A4 CL E G H	291	10990	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040282 - Frequent		68
HP:0000496	HP:0000496	Abnormality of eye movement	0	SLC25A4 CL E G H	291	10990	ORPHA:1369	Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome			68
HP:0000496	HP:0000496	Abnormality of eye movement	0	SLC25A4 CL E G H	291	10990	OMIM:609283	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2			68
HP:0000496	HP:0000496	Abnormality of eye movement	0	SLC25A46 CL E G H	91137	25198	OMIM:616505	Neuropathy, hereditary motor and sensory, type VIB			14
HP:0000496	HP:0000496	Abnormality of eye movement	0	SLC25A46 CL E G H	91137	25198	ORPHA:2254	Pontocerebellar hypoplasia type 1			14
HP:0000496	HP:0000496	Abnormality of eye movement	0	SLC29A3 CL E G H	55315	23096	ORPHA:1782	Dysosteosclerosis			68
HP:0000496	HP:0000496	Abnormality of eye movement	0	SLC2A1 CL E G H	6513	11005	ORPHA:64280	Childhood absence epilepsy			255
HP:0000496	HP:0000496	Abnormality of eye movement	0	SLC2A1 CL E G H	6513	11005	ORPHA:71277	Classic glucose transporter type 1 deficiency syndrome			255
HP:0000496	HP:0000496	Abnormality of eye movement	0	SLC2A1 CL E G H	6513	11005	OMIM:606777	Glut1 deficiency syndrome 1			255
HP:0000496	HP:0000496	Abnormality of eye movement	0	SLC2A1 CL E G H	6513	11005	ORPHA:168577	Hereditary cryohydrocytosis with reduced stomatin			255
HP:0000496	HP:0000496	Abnormality of eye movement	0	SLC2A1 CL E G H	6513	11005	OMIM:608885	Stomatin-Deficient cryohydrocytosis with neurologic defects			255
HP:0000496	HP:0000496	Abnormality of eye movement	0	SLC2A10 CL E G H	81031	13444	ORPHA:3342	Arterial tortuosity syndrome			178
HP:0000496	HP:0000496	Abnormality of eye movement	0	SLC2A3 CL E G H	6515	11007	ORPHA:399	Huntington disease	HP:0040282 - Frequent		1
HP:0000496	HP:0000496	Abnormality of eye movement	0	SLC30A9 CL E G H	10463	1329	OMIM:617595	Birk-Landau-Perez syndrome	.		1
HP:0000496	HP:0000496	Abnormality of eye movement	0	SLC33A1 CL E G H	9197	95	OMIM:614482	Congenital cataracts, hearing loss, and neurodegeneration			48
HP:0000496	HP:0000496	Abnormality of eye movement	0	SLC35A1 CL E G H	10559	11021	OMIM:603585	Congenital disorder of glycosylation, type IIf			24
HP:0000496	HP:0000496	Abnormality of eye movement	0	SLC35A2 CL E G H	7355	11022	OMIM:300896	Congenital disorder of glycosylation, type IIm			27
HP:0000496	HP:0000496	Abnormality of eye movement	0	SLC35A2 CL E G H	7355	11022	ORPHA:356961	SLC35A2-CDG			27
HP:0000496	HP:0000496	Abnormality of eye movement	0	SLC35C1 CL E G H	55343	20197	ORPHA:99843	Leukocyte adhesion deficiency type II			71
HP:0000496	HP:0000496	Abnormality of eye movement	0	SLC37A4 CL E G H	2542	4061	OMIM:619525	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw; CDG2W			110
HP:0000496	HP:0000496	Abnormality of eye movement	0	SLC38A3 CL E G H	10991	18044	ORPHA:442835	Non-specific early-onset epileptic encephalopathy
HP:0000496	HP:0000496	Abnormality of eye movement	0	SLC38A8 CL E G H	146167	32434	OMIM:609218	Foveal hypoplasia 2			13
HP:0000496	HP:0000496	Abnormality of eye movement	0	SLC39A8 CL E G H	64116	20862	OMIM:616721	Congenital disorder of glycosylation, type IIN			11
HP:0000496	HP:0000496	Abnormality of eye movement	0	SLC39A8 CL E G H	64116	20862	ORPHA:468699	SLC39A8-CDG			11
HP:0000496	HP:0000496	Abnormality of eye movement	0	SLC44A1 CL E G H	23446	18798	OMIM:618868	NEURODEGENERATION, CHILDHOOD-ONSET, WITH ATAXIA, TREMOR, OPTIC ATROPHY, AND COGNITIVE DECLINE; CONATOC			1
HP:0000496	HP:0000496	Abnormality of eye movement	0	SLC45A2 CL E G H	51151	16472	OMIM:606574	ALBINISM, OCULOCUTANEOUS, TYPE IV; OCA4			42
HP:0000496	HP:0000496	Abnormality of eye movement	0	SLC45A2 CL E G H	51151	16472	ORPHA:79435	Oculocutaneous albinism type 4			42
HP:0000496	HP:0000496	Abnormality of eye movement	0	SLC4A11 CL E G H	83959	16438	ORPHA:293603	Congenital hereditary endothelial dystrophy type II			66
HP:0000496	HP:0000496	Abnormality of eye movement	0	SLC4A11 CL E G H	83959	16438	ORPHA:1490	Corneal dystrophy-perceptive deafness syndrome			66
HP:0000496	HP:0000496	Abnormality of eye movement	0	SLC52A2 CL E G H	79581	30224	OMIM:614707	Brown-Vialetto-Van laere syndrome 2			47
HP:0000496	HP:0000496	Abnormality of eye movement	0	SLC52A3 CL E G H	113278	16187	OMIM:211530	Brown-Vialetto-Van laere syndrome 1			51
HP:0000496	HP:0000496	Abnormality of eye movement	0	SLC5A6 CL E G H	8884	11041	OMIM:618973	NEURODEGENERATION, INFANTILE-ONSET, BIOTIN-RESPONSIVE; NERIB
HP:0000496	HP:0000496	Abnormality of eye movement	0	SLC5A7 CL E G H	60482	14025	OMIM:617143	Myasthenic syndrome, congenital, 20, presynaptic			9
HP:0000496	HP:0000496	Abnormality of eye movement	0	SLC5A7 CL E G H	60482	14025	ORPHA:98914	Presynaptic congenital myasthenic syndromes			9
HP:0000496	HP:0000496	Abnormality of eye movement	0	SLC6A19 CL E G H	340024	27960	ORPHA:2116	Hartnup disease			12
HP:0000496	HP:0000496	Abnormality of eye movement	0	SLC6A3 CL E G H	6531	11049	OMIM:613135	Parkinsonism-Dystonia, infantile, 1			13
HP:0000496	HP:0000496	Abnormality of eye movement	0	SLC6A6 CL E G H	6533	11052	OMIM:145350	Hypotaurinemic retinal degeneration and cardiomyopathy
HP:0000496	HP:0000496	Abnormality of eye movement	0	SLC6A8 CL E G H	6535	11055	OMIM:300352	Creatine deficiency syndrome, X-linked			122
HP:0000496	HP:0000496	Abnormality of eye movement	0	SLC7A14 CL E G H	57709	29326	ORPHA:791	Retinitis pigmentosa			4
HP:0000496	HP:0000496	Abnormality of eye movement	0	SLC9A1 CL E G H	6548	11071	OMIM:616291	Lichtenstein-Knorr syndrome			2
HP:0000496	HP:0000496	Abnormality of eye movement	0	SLC9A6 CL E G H	10479	11079	ORPHA:85278	Christianson syndrome			93
HP:0000496	HP:0000496	Abnormality of eye movement	0	SLC9A6 CL E G H	10479	11079	OMIM:300243	Mental retardation, x-linked syndromic, Christianson type			93
HP:0000496	HP:0000496	Abnormality of eye movement	0	SLC9A7 CL E G H	84679	17123	OMIM:301024	Intellectual developmental disorder, X-linked 108
HP:0000496	HP:0000496	Abnormality of eye movement	0	SLX4 CL E G H	84464	23845	ORPHA:84	Fanconi anemia			274
HP:0000496	HP:0000496	Abnormality of eye movement	0	SMAD3 CL E G H	4088	6769	OMIM:613795	LOEYS-DIETZ SYNDROME 3; LDS3			260
HP:0000496	HP:0000496	Abnormality of eye movement	0	SMAD4 CL E G H	4089	6770	OMIM:139210	Myhre syndrome			504
HP:0000496	HP:0000496	Abnormality of eye movement	0	SMARCA4 CL E G H	6597	11100	ORPHA:1465	Coffin-Siris syndrome			617
HP:0000496	HP:0000496	Abnormality of eye movement	0	SMARCB1 CL E G H	6598	11103	ORPHA:1465	Coffin-Siris syndrome			87
HP:0000496	HP:0000496	Abnormality of eye movement	0	SMARCB1 CL E G H	6598	11103	ORPHA:2495	Meningioma			87
HP:0000496	HP:0000496	Abnormality of eye movement	0	SMARCC2 CL E G H	6601	11105	ORPHA:1465	Coffin-Siris syndrome			1
HP:0000496	HP:0000496	Abnormality of eye movement	0	SMARCD1 CL E G H	6602	11106	ORPHA:1465	Coffin-Siris syndrome
HP:0000496	HP:0000496	Abnormality of eye movement	0	SMARCE1 CL E G H	6605	11109	ORPHA:1465	Coffin-Siris syndrome			47
HP:0000496	HP:0000496	Abnormality of eye movement	0	SMARCE1 CL E G H	6605	11109	ORPHA:2495	Meningioma			47
HP:0000496	HP:0000496	Abnormality of eye movement	0	SMC1A CL E G H	8243	11111	ORPHA:199	Cornelia de Lange syndrome			135
HP:0000496	HP:0000496	Abnormality of eye movement	0	SMC3 CL E G H	9126	2468	ORPHA:199	Cornelia de Lange syndrome			91
HP:0000496	HP:0000496	Abnormality of eye movement	0	SMG8 CL E G H	55181	25551	OMIM:619268	ALZAHRANI-KUWAHARA SYNDROME; ALKUS
HP:0000496	HP:0000496	Abnormality of eye movement	0	SMG9 CL E G H	56006	25763	OMIM:619995				2
HP:0000496	HP:0000496	Abnormality of eye movement	0	SMO CL E G H	6608	11119	ORPHA:2495	Meningioma			22
HP:0000496	HP:0000496	Abnormality of eye movement	0	SMPD1 CL E G H	6609	11120	ORPHA:77293	Niemann-Pick disease type B			164
HP:0000496	HP:0000496	Abnormality of eye movement	0	SNAP25 CL E G H	6616	11132	ORPHA:98914	Presynaptic congenital myasthenic syndromes			2
HP:0000496	HP:0000496	Abnormality of eye movement	0	SNAP29 CL E G H	9342	11133	ORPHA:66631	CEDNIK syndrome	HP:0040282 - Frequent		94
HP:0000496	HP:0000496	Abnormality of eye movement	0	SNCA CL E G H	6622	11138	ORPHA:171695	Parkinsonian-pyramidal syndrome			65
HP:0000496	HP:0000496	Abnormality of eye movement	0	SNIP1 CL E G H	79753	30587	OMIM:614501	Psychomotor retardation, epilepsy, and craniofacial dysmorphism			3
HP:0000496	HP:0000496	Abnormality of eye movement	0	SNORD115-1 CL E G H	338433	33020	OMIM:176270	Prader-Willi syndrome
HP:0000496	HP:0000496	Abnormality of eye movement	0	SNORD116-1 CL E G H	100033413	33067	OMIM:176270	Prader-Willi syndrome
HP:0000496	HP:0000496	Abnormality of eye movement	0	SNRNP200 CL E G H	23020	30859	ORPHA:791	Retinitis pigmentosa			83
HP:0000496	HP:0000496	Abnormality of eye movement	0	SNRPN CL E G H	6638	11164	OMIM:105830	Angelman syndrome			37
HP:0000496	HP:0000496	Abnormality of eye movement	0	SNRPN CL E G H	6638	11164	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15			37
HP:0000496	HP:0000496	Abnormality of eye movement	0	SNRPN CL E G H	6638	11164	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1			37
HP:0000496	HP:0000496	Abnormality of eye movement	0	SNRPN CL E G H	6638	11164	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2			37
HP:0000496	HP:0000496	Abnormality of eye movement	0	SNRPN CL E G H	6638	11164	ORPHA:177907	Prader-Willi syndrome due to translocation			37
HP:0000496	HP:0000496	Abnormality of eye movement	0	SNX10 CL E G H	29887	14974	ORPHA:667	Autosomal recessive malignant osteopetrosis			2
HP:0000496	HP:0000496	Abnormality of eye movement	0	SNX14 CL E G H	57231	14977	ORPHA:397709	Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome			14
HP:0000496	HP:0000496	Abnormality of eye movement	0	SNX14 CL E G H	57231	14977	OMIM:616354	Spinocerebellar ataxia, autosomal recessive 20			14
HP:0000496	HP:0000496	Abnormality of eye movement	0	SOBP CL E G H	55084	29256	OMIM:613671	Mental retardation, anterior maxillary protrusion, and strabismus			29
HP:0000496	HP:0000496	Abnormality of eye movement	0	SON CL E G H	6651	11183	ORPHA:500150	Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome			12
HP:0000496	HP:0000496	Abnormality of eye movement	0	SON CL E G H	6651	11183	OMIM:617140	Zttk syndrome			12
HP:0000496	HP:0000496	Abnormality of eye movement	0	SORL1 CL E G H	6653	11185	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease			3
HP:0000496	HP:0000496	Abnormality of eye movement	0	SOS1 CL E G H	6654	11187	ORPHA:648	Noonan syndrome			315
HP:0000496	HP:0000496	Abnormality of eye movement	0	SOS2 CL E G H	6655	11188	ORPHA:648	Noonan syndrome			30
HP:0000496	HP:0000496	Abnormality of eye movement	0	SOST CL E G H	50964	13771	OMIM:269500	Sclerosteosis 1			26
HP:0000496	HP:0000496	Abnormality of eye movement	0	SOX10 CL E G H	6663	11190	ORPHA:478	Kallmann syndrome			61
HP:0000496	HP:0000496	Abnormality of eye movement	0	SOX10 CL E G H	6663	11190	OMIM:609136	Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease			61
HP:0000496	HP:0000496	Abnormality of eye movement	0	SOX10 CL E G H	6663	11190	ORPHA:163746	Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease			61
HP:0000496	HP:0000496	Abnormality of eye movement	0	SOX10 CL E G H	6663	11190	OMIM:611584	Waardenburg syndrome, type 2E			61
HP:0000496	HP:0000496	Abnormality of eye movement	0	SOX11 CL E G H	6664	11191	ORPHA:1465	Coffin-Siris syndrome			14
HP:0000496	HP:0000496	Abnormality of eye movement	0	SOX2 CL E G H	6657	11195	ORPHA:35612	Nanophthalmos			33
HP:0000496	HP:0000496	Abnormality of eye movement	0	SOX2 CL E G H	6657	11195	ORPHA:3157	Septo-optic dysplasia spectrum			33
HP:0000496	HP:0000496	Abnormality of eye movement	0	SOX3 CL E G H	6658	11199	ORPHA:3157	Septo-optic dysplasia spectrum			24
HP:0000496	HP:0000496	Abnormality of eye movement	0	SOX3 CL E G H	6658	11199	ORPHA:67045	X-linked intellectual disability with isolated growth hormone deficiency			24
HP:0000496	HP:0000496	Abnormality of eye movement	0	SOX4 CL E G H	6659	11200	ORPHA:1465	Coffin-Siris syndrome
HP:0000496	HP:0000496	Abnormality of eye movement	0	SOX5 CL E G H	6660	11201	ORPHA:313892	Developmental and speech delay due to SOX5 deficiency			11
HP:0000496	HP:0000496	Abnormality of eye movement	0	SOX5 CL E G H	6660	11201	OMIM:616803	Lamb-Shaffer syndrome			11
HP:0000496	HP:0000496	Abnormality of eye movement	0	SPAST CL E G H	6683	11233	OMIM:182601	Spastic paraplegia 4, autosomal dominant			208
HP:0000496	HP:0000496	Abnormality of eye movement	0	SPATA5 CL E G H	166378	18119	OMIM:616577	Epilepsy, hearing loss, and mental retardation syndrome			19
HP:0000496	HP:0000496	Abnormality of eye movement	0	SPATA5 CL E G H	166378	18119	ORPHA:457351	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome			19
HP:0000496	HP:0000496	Abnormality of eye movement	0	SPATA7 CL E G H	55812	20423	ORPHA:65	Leber congenital amaurosis			48
HP:0000496	HP:0000496	Abnormality of eye movement	0	SPATA7 CL E G H	55812	20423	OMIM:604232	LEBER CONGENITAL AMAUROSIS 3; LCA3			48
HP:0000496	HP:0000496	Abnormality of eye movement	0	SPATA7 CL E G H	55812	20423	ORPHA:791	Retinitis pigmentosa			48
HP:0000496	HP:0000496	Abnormality of eye movement	0	SPATA7 CL E G H	55812	20423	ORPHA:364055	Severe early-childhood-onset retinal dystrophy			48
HP:0000496	HP:0000496	Abnormality of eye movement	0	SPECC1L CL E G H	23384	29022	ORPHA:1519	SPECC1L-related hypertelorism syndrome			6
HP:0000496	HP:0000496	Abnormality of eye movement	0	SPEG CL E G H	10290	16901	ORPHA:169186	Autosomal recessive centronuclear myopathy			20
HP:0000496	HP:0000496	Abnormality of eye movement	0	SPEG CL E G H	10290	16901	OMIM:615959	Myopathy, centronuclear, 5			20
HP:0000496	HP:0000496	Abnormality of eye movement	0	SPEN CL E G H	23013	17575	ORPHA:1606	1p36 deletion syndrome			4
HP:0000496	HP:0000496	Abnormality of eye movement	0	SPG11 CL E G H	80208	11226	ORPHA:2822	Autosomal recessive spastic paraplegia type 11			287
HP:0000496	HP:0000496	Abnormality of eye movement	0	SPG11 CL E G H	80208	11226	ORPHA:300605	Juvenile amyotrophic lateral sclerosis			287
HP:0000496	HP:0000496	Abnormality of eye movement	0	SPG11 CL E G H	80208	11226	OMIM:604360	Spastic paraplegia 11, autosomal recessive			287
HP:0000496	HP:0000496	Abnormality of eye movement	0	SPG7 CL E G H	6687	11237	OMIM:607259	Spastic paraplegia 7, autosomal recessive			171
HP:0000496	HP:0000496	Abnormality of eye movement	0	SPG7 CL E G H	6687	11237	ORPHA:99013	Spastic paraplegia type 7			171
HP:0000496	HP:0000496	Abnormality of eye movement	0	SPOP CL E G H	8405	11254	OMIM:618829	NABAIS SA-DE VRIES SYNDROME, TYPE 2; NSDVS2			16
HP:0000496	HP:0000496	Abnormality of eye movement	0	SPR CL E G H	6697	11257	OMIM:612716	Dystonia, dopa-responsive, due to sepiapterin reductase deficiency			28
HP:0000496	HP:0000496	Abnormality of eye movement	0	SPRED2 CL E G H	200734	17722	ORPHA:648	Noonan syndrome
HP:0000496	HP:0000496	Abnormality of eye movement	0	SPRY4 CL E G H	81848	15533	ORPHA:478	Kallmann syndrome			5
HP:0000496	HP:0000496	Abnormality of eye movement	0	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0000496	HP:0000496	Abnormality of eye movement	0	SPTBN2 CL E G H	6712	11276	ORPHA:352403	Spectrin-associated autosomal recessive cerebellar ataxia			126
HP:0000496	HP:0000496	Abnormality of eye movement	0	SPTBN2 CL E G H	6712	11276	OMIM:600224	Spinocerebellar ataxia 5			126
HP:0000496	HP:0000496	Abnormality of eye movement	0	SPTBN2 CL E G H	6712	11276	OMIM:615386	Spinocerebellar ataxia, autosomal recessive 14	HP:0040283 - Occasional		126
HP:0000496	HP:0000496	Abnormality of eye movement	0	SPTBN4 CL E G H	57731	14896	OMIM:617519	Neurodevelopmental disorder with hypotonia, neuropathy, and deafness			3
HP:0000496	HP:0000496	Abnormality of eye movement	0	SPTLC1 CL E G H	10558	11277	ORPHA:300605	Juvenile amyotrophic lateral sclerosis			54
HP:0000496	HP:0000496	Abnormality of eye movement	0	SQSTM1 CL E G H	8878	11280	ORPHA:275872	Frontotemporal dementia with motor neuron disease			62
HP:0000496	HP:0000496	Abnormality of eye movement	0	SQSTM1 CL E G H	8878	11280	OMIM:617145	Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset			62
HP:0000496	HP:0000496	Abnormality of eye movement	0	SRCAP CL E G H	10847	16974	OMIM:619595	DEVELOPMENTAL DELAY, HYPOTONIA, MUSCULOSKELETAL DEFECTS, AND BEHAVIORAL ABNORMALITIES; DEHMBA			138
HP:0000496	HP:0000496	Abnormality of eye movement	0	SRCAP CL E G H	10847	16974	ORPHA:2044	Floating-Harbor syndrome			138
HP:0000496	HP:0000496	Abnormality of eye movement	0	SRCAP CL E G H	10847	16974	OMIM:136140	Floating-Harbor syndrome			138
HP:0000496	HP:0000496	Abnormality of eye movement	0	SRD5A3 CL E G H	79644	25812	OMIM:612379	Congenital disorder of glycosylation, type IQ			80
HP:0000496	HP:0000496	Abnormality of eye movement	0	SRD5A3 CL E G H	79644	25812	ORPHA:324737	SRD5A3-CDG			80
HP:0000496	HP:0000496	Abnormality of eye movement	0	SREBF1 CL E G H	6720	11289	OMIM:619016	IFAP SYNDROME 2; IFAP2			1
HP:0000496	HP:0000496	Abnormality of eye movement	0	SREBF1 CL E G H	6720	11289	OMIM:158310	Mucoepithelial dysplasia, hereditary			1
HP:0000496	HP:0000496	Abnormality of eye movement	0	SRPX2 CL E G H	27286	30668	ORPHA:98889	Bilateral perisylvian polymicrogyria			50
HP:0000496	HP:0000496	Abnormality of eye movement	0	SRY CL E G H	6736	11311	ORPHA:1772	45,X/46,XY mixed gonadal dysgenesis			23
HP:0000496	HP:0000496	Abnormality of eye movement	0	SSR4 CL E G H	6748	11326	OMIM:300934	Congenital disorder of glycosylation, type Iy			12
HP:0000496	HP:0000496	Abnormality of eye movement	0	SSR4 CL E G H	6748	11326	ORPHA:370927	SSR4-CDG			12
HP:0000496	HP:0000496	Abnormality of eye movement	0	STAG1 CL E G H	10274	11354	ORPHA:502434	STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome			9
HP:0000496	HP:0000496	Abnormality of eye movement	0	STIM1 CL E G H	6786	11386	OMIM:160565	Myopathy, tubular aggregate, 1			31
HP:0000496	HP:0000496	Abnormality of eye movement	0	STRADA CL E G H	92335	30172	OMIM:611087	Polyhydramnios, megalencephaly, and symptomatic epilepsy			6
HP:0000496	HP:0000496	Abnormality of eye movement	0	STT3A CL E G H	3703	6172	OMIM:619714	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iw, AUTOSOMAL DOMINANT; CDG1WAD			21
HP:0000496	HP:0000496	Abnormality of eye movement	0	STT3A CL E G H	3703	6172	ORPHA:370921	STT3A-CDG			21
HP:0000496	HP:0000496	Abnormality of eye movement	0	STUB1 CL E G H	10273	11427	ORPHA:412057	Autosomal recessive cerebellar ataxia due to STUB1 deficiency			14
HP:0000496	HP:0000496	Abnormality of eye movement	0	STUB1 CL E G H	10273	11427	OMIM:615768	Spinocerebellar ataxia, autosomal recessive 16			14
HP:0000496	HP:0000496	Abnormality of eye movement	0	STX16 CL E G H	8675	11431	ORPHA:94089	Pseudohypoparathyroidism type 1B			86
HP:0000496	HP:0000496	Abnormality of eye movement	0	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome
HP:0000496	HP:0000496	Abnormality of eye movement	0	STX3 CL E G H	6809	11438	OMIM:619446	RETINAL DYSTROPHY AND MICROVILLUS INCLUSION DISEASE; RDMVID			1
HP:0000496	HP:0000496	Abnormality of eye movement	0	STXBP1 CL E G H	6812	11444	ORPHA:495818	9q33.3q34.11 microdeletion syndrome			237
HP:0000496	HP:0000496	Abnormality of eye movement	0	STXBP1 CL E G H	6812	11444	OMIM:612164	Epileptic encephalopathy, early infantile, 4			237
HP:0000496	HP:0000496	Abnormality of eye movement	0	SUCLA2 CL E G H	8803	11448	OMIM:612073	Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)			66
HP:0000496	HP:0000496	Abnormality of eye movement	0	SUCLG1 CL E G H	8802	11449	ORPHA:17	Fatal infantile lactic acidosis with methylmalonic aciduria			60
HP:0000496	HP:0000496	Abnormality of eye movement	0	SUFU CL E G H	51684	16466	OMIM:109400	Basal cell nevus syndrome			124
HP:0000496	HP:0000496	Abnormality of eye movement	0	SUFU CL E G H	51684	16466	ORPHA:377	Gorlin syndrome			124
HP:0000496	HP:0000496	Abnormality of eye movement	0	SUFU CL E G H	51684	16466	ORPHA:475	Joubert syndrome			124
HP:0000496	HP:0000496	Abnormality of eye movement	0	SUFU CL E G H	51684	16466	OMIM:617757	Joubert syndrome 32			124
HP:0000496	HP:0000496	Abnormality of eye movement	0	SUFU CL E G H	51684	16466	ORPHA:2495	Meningioma			124
HP:0000496	HP:0000496	Abnormality of eye movement	0	SUFU CL E G H	51684	16466	ORPHA:280200	Microform holoprosencephaly			124
HP:0000496	HP:0000496	Abnormality of eye movement	0	SUPT16H CL E G H	11198	11465	OMIM:619480	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND THIN CORPUS CALLOSUM; NEDDFAC
HP:0000496	HP:0000496	Abnormality of eye movement	0	SURF1 CL E G H	6834	11474	OMIM:616684	Charcot-Marie-Tooth disease, type 4K			73
HP:0000496	HP:0000496	Abnormality of eye movement	0	SURF1 CL E G H	6834	11474	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040282 - Frequent		73
HP:0000496	HP:0000496	Abnormality of eye movement	0	SURF1 CL E G H	6834	11474	ORPHA:255241	Leigh syndrome with leukodystrophy			73
HP:0000496	HP:0000496	Abnormality of eye movement	0	SURF1 CL E G H	6834	11474	OMIM:220110	Mitochondrial complex IV deficiency			73
HP:0000496	HP:0000496	Abnormality of eye movement	0	SYNE1 CL E G H	23345	17089	OMIM:618484	Arthrogryposis multiplex congenita, Myogenic type			1129
HP:0000496	HP:0000496	Abnormality of eye movement	0	SYNE1 CL E G H	23345	17089	ORPHA:88644	Autosomal recessive ataxia, Beauce type			1129
HP:0000496	HP:0000496	Abnormality of eye movement	0	SYNE1 CL E G H	23345	17089	ORPHA:319332	Autosomal recessive myogenic arthrogryposis multiplex congenita			1129
HP:0000496	HP:0000496	Abnormality of eye movement	0	SYNE1 CL E G H	23345	17089	OMIM:610743	Spinocerebellar ataxia, autosomal recessive 8			1129
HP:0000496	HP:0000496	Abnormality of eye movement	0	SYNGAP1 CL E G H	8831	11497	OMIM:612621	Mental retardation, autosomal dominant 5			108
HP:0000496	HP:0000496	Abnormality of eye movement	0	SYNGAP1 CL E G H	8831	11497	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			108
HP:0000496	HP:0000496	Abnormality of eye movement	0	SYNJ1 CL E G H	8867	11503	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			9
HP:0000496	HP:0000496	Abnormality of eye movement	0	SYNJ1 CL E G H	8867	11503	OMIM:615530	Parkinson disease 20, early-onset			9
HP:0000496	HP:0000496	Abnormality of eye movement	0	SYT1 CL E G H	6857	11509	OMIM:618218	Baker-Gordon syndrome			1
HP:0000496	HP:0000496	Abnormality of eye movement	0	SYT1 CL E G H	6857	11509	ORPHA:522077	Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome			1
HP:0000496	HP:0000496	Abnormality of eye movement	0	SYT14 CL E G H	255928	23143	ORPHA:284271	Autosomal recessive cerebellar ataxia-psychomotor delay syndrome			4
HP:0000496	HP:0000496	Abnormality of eye movement	0	SYT14 CL E G H	255928	23143	OMIM:614229	Spinocerebellar ataxia, autosomal recessive 11			4
HP:0000496	HP:0000496	Abnormality of eye movement	0	SYT2 CL E G H	127833	11510	OMIM:619461	MYASTHENIC SYNDROME, CONGENITAL, 7B, PRESYNAPTIC, AUTOSOMAL RECESSIVE; CMS7B			4
HP:0000496	HP:0000496	Abnormality of eye movement	0	SYT2 CL E G H	127833	11510	ORPHA:98914	Presynaptic congenital myasthenic syndromes			4
HP:0000496	HP:0000496	Abnormality of eye movement	0	SZT2 CL E G H	23334	29040	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			123
HP:0000496	HP:0000496	Abnormality of eye movement	0	TACO1 CL E G H	51204	24316	ORPHA:255241	Leigh syndrome with leukodystrophy			23
HP:0000496	HP:0000496	Abnormality of eye movement	0	TACR3 CL E G H	6870	11528	ORPHA:478	Kallmann syndrome			34
HP:0000496	HP:0000496	Abnormality of eye movement	0	TAF1 CL E G H	6872	11535	OMIM:300966	MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS33			21
HP:0000496	HP:0000496	Abnormality of eye movement	0	TAF1 CL E G H	6872	11535	ORPHA:480907	X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome			21
HP:0000496	HP:0000496	Abnormality of eye movement	0	TAF2 CL E G H	6873	11536	OMIM:615599	Mental retardation, autosomal recessive 40			7
HP:0000496	HP:0000496	Abnormality of eye movement	0	TAF2 CL E G H	6873	11536	ORPHA:397951	Microcephaly-thin corpus callosum-intellectual disability syndrome			7
HP:0000496	HP:0000496	Abnormality of eye movement	0	TANGO2 CL E G H	128989	25439	ORPHA:480864	Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome			12
HP:0000496	HP:0000496	Abnormality of eye movement	0	TAOK1 CL E G H	57551	29259	OMIM:619575	DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES; DDIB
HP:0000496	HP:0000496	Abnormality of eye movement	0	TARDBP CL E G H	23435	11571	ORPHA:275872	Frontotemporal dementia with motor neuron disease			65
HP:0000496	HP:0000496	Abnormality of eye movement	0	TARS1 CL E G H	6897	11572	ORPHA:33364	Trichothiodystrophy
HP:0000496	HP:0000496	Abnormality of eye movement	0	TASP1 CL E G H	55617	15859	OMIM:618950	SULEIMAN-EL-HATTAB SYNDROME; SULEHS
HP:0000496	HP:0000496	Abnormality of eye movement	0	TAT CL E G H	6898	11573	ORPHA:28378	Tyrosinemia type 2			43
HP:0000496	HP:0000496	Abnormality of eye movement	0	TBC1D23 CL E G H	55773	25622	OMIM:617695	Pontocerebellar hypoplasia, type 11
HP:0000496	HP:0000496	Abnormality of eye movement	0	TBC1D24 CL E G H	57465	29203	ORPHA:79500	DOORS syndrome			271
HP:0000496	HP:0000496	Abnormality of eye movement	0	TBC1D24 CL E G H	57465	29203	OMIM:608105	Epilepsy, rolandic, with paroxysmal exercise-induced dystonia and writer's cramp			271
HP:0000496	HP:0000496	Abnormality of eye movement	0	TBC1D24 CL E G H	57465	29203	ORPHA:163727	Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome			271
HP:0000496	HP:0000496	Abnormality of eye movement	0	TBC1D2B CL E G H	23102	29183	ORPHA:397973	Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome
HP:0000496	HP:0000496	Abnormality of eye movement	0	TBCD CL E G H	6904	11581	ORPHA:496641	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome			16
HP:0000496	HP:0000496	Abnormality of eye movement	0	TBCD CL E G H	6904	11581	OMIM:617193	ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM; PEBAT			16
HP:0000496	HP:0000496	Abnormality of eye movement	0	TBCK CL E G H	93627	28261	ORPHA:488632	TBCK-related intellectual disability syndrome			13
HP:0000496	HP:0000496	Abnormality of eye movement	0	TBK1 CL E G H	29110	11584	ORPHA:275872	Frontotemporal dementia with motor neuron disease			20
HP:0000496	HP:0000496	Abnormality of eye movement	0	TBL1XR1 CL E G H	79718	29529	OMIM:602342	Pierpont syndrome			22
HP:0000496	HP:0000496	Abnormality of eye movement	0	TBL1XR1 CL E G H	79718	29529	ORPHA:487825	Pierpont syndrome			22
HP:0000496	HP:0000496	Abnormality of eye movement	0	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome
HP:0000496	HP:0000496	Abnormality of eye movement	0	TBP CL E G H	6908	11588	OMIM:607136	Spinocerebellar ataxia 17			7
HP:0000496	HP:0000496	Abnormality of eye movement	0	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome			32
HP:0000496	HP:0000496	Abnormality of eye movement	0	TBX1 CL E G H	6899	11592	OMIM:188400	Digeorge syndrome			32
HP:0000496	HP:0000496	Abnormality of eye movement	0	TBX15 CL E G H	6913	11594	ORPHA:93333	Pelviscapular dysplasia			5
HP:0000496	HP:0000496	Abnormality of eye movement	0	TBX4 CL E G H	9496	11603	ORPHA:261279	17q23.1q23.2 microdeletion syndrome			55
HP:0000496	HP:0000496	Abnormality of eye movement	0	TCF12 CL E G H	6938	11623	OMIM:615314	Craniosynostosis 3			28
HP:0000496	HP:0000496	Abnormality of eye movement	0	TCF20 CL E G H	6942	11631	OMIM:618430	Developmental delay with variable intellectual impairment and behavioral abnormalities			1
HP:0000496	HP:0000496	Abnormality of eye movement	0	TCF4 CL E G H	6925	11634	OMIM:610954	Pitt-Hopkins syndrome			241
HP:0000496	HP:0000496	Abnormality of eye movement	0	TCF4 CL E G H	6925	11634	ORPHA:2896	Pitt-Hopkins syndrome			241
HP:0000496	HP:0000496	Abnormality of eye movement	0	TCIRG1 CL E G H	10312	11647	ORPHA:667	Autosomal recessive malignant osteopetrosis			82
HP:0000496	HP:0000496	Abnormality of eye movement	0	TCIRG1 CL E G H	10312	11647	ORPHA:1782	Dysosteosclerosis			82
HP:0000496	HP:0000496	Abnormality of eye movement	0	TCIRG1 CL E G H	10312	11647	OMIM:259700	Osteopetrosis, autosomal recessive 1			82
HP:0000496	HP:0000496	Abnormality of eye movement	0	TCOF1 CL E G H	6949	11654	OMIM:154500	Treacher collins-franceschetti syndrome			140
HP:0000496	HP:0000496	Abnormality of eye movement	0	TCOF1 CL E G H	6949	11654	ORPHA:861	Treacher-Collins syndrome			140
HP:0000496	HP:0000496	Abnormality of eye movement	0	TCTN1 CL E G H	79600	26113	ORPHA:475	Joubert syndrome			45
HP:0000496	HP:0000496	Abnormality of eye movement	0	TCTN2 CL E G H	79867	25774	ORPHA:475	Joubert syndrome			76
HP:0000496	HP:0000496	Abnormality of eye movement	0	TCTN2 CL E G H	79867	25774	OMIM:616654	Joubert syndrome 24			76
HP:0000496	HP:0000496	Abnormality of eye movement	0	TCTN3 CL E G H	26123	24519	OMIM:614815	Joubert syndrome 18	.		31
HP:0000496	HP:0000496	Abnormality of eye movement	0	TCTN3 CL E G H	26123	24519	ORPHA:2753	Orofaciodigital syndrome type 4	HP:0040281 - Very frequent		31
HP:0000496	HP:0000496	Abnormality of eye movement	0	TCTN3 CL E G H	26123	24519	ORPHA:2754	Orofaciodigital syndrome type 6			31
HP:0000496	HP:0000496	Abnormality of eye movement	0	TDGF1 CL E G H	6997	11701	ORPHA:280200	Microform holoprosencephaly			1
HP:0000496	HP:0000496	Abnormality of eye movement	0	TDP1 CL E G H	55775	18884	ORPHA:94124	Spinocerebellar ataxia with axonal neuropathy type 1			52
HP:0000496	HP:0000496	Abnormality of eye movement	0	TELO2 CL E G H	9894	29099	ORPHA:488642	TELO2-related intellectual disability-neurodevelopmental disorder			12
HP:0000496	HP:0000496	Abnormality of eye movement	0	TENM3 CL E G H	55714	29944	OMIM:615145	Microphthalmia, isolated, with coloboma 9			12
HP:0000496	HP:0000496	Abnormality of eye movement	0	TERT CL E G H	7015	11730	ORPHA:2495	Meningioma			238
HP:0000496	HP:0000496	Abnormality of eye movement	0	TET3 CL E G H	200424	28313	OMIM:618798	BECK-FAHRNER SYNDROME; BEFAHRS
HP:0000496	HP:0000496	Abnormality of eye movement	0	TFAP2A CL E G H	7020	11742	ORPHA:1297	Branchio-oculo-facial syndrome			12
HP:0000496	HP:0000496	Abnormality of eye movement	0	TFAP2A CL E G H	7020	11742	OMIM:113620	Branchiooculofacial syndrome			12
HP:0000496	HP:0000496	Abnormality of eye movement	0	TFAP2B CL E G H	7021	11743	ORPHA:46627	Char syndrome			104
HP:0000496	HP:0000496	Abnormality of eye movement	0	TFAP2B CL E G H	7021	11743	OMIM:169100	Char syndrome			104
HP:0000496	HP:0000496	Abnormality of eye movement	0	TFE3 CL E G H	7030	11752	OMIM:301066	INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES; MRXSPF
HP:0000496	HP:0000496	Abnormality of eye movement	0	TGFBI CL E G H	7045	11771	OMIM:608470	Corneal dystrophy, Reis-Bucklers type			58
HP:0000496	HP:0000496	Abnormality of eye movement	0	TGFBI CL E G H	7045	11771	OMIM:121900	Groenouw type I corneal dystrophy			58
HP:0000496	HP:0000496	Abnormality of eye movement	0	TGFBR1 CL E G H	7046	11772	OMIM:609192	Loeys-Dietz syndrome 1			239
HP:0000496	HP:0000496	Abnormality of eye movement	0	TGFBR2 CL E G H	7048	11773	OMIM:610168	Loeys-Dietz syndrome 2			253
HP:0000496	HP:0000496	Abnormality of eye movement	0	TGFBR3 CL E G H	7049	11774	ORPHA:231160	Familial cerebral saccular aneurysm			1
HP:0000496	HP:0000496	Abnormality of eye movement	0	TGIF1 CL E G H	7050	11776	ORPHA:280200	Microform holoprosencephaly			32
HP:0000496	HP:0000496	Abnormality of eye movement	0	TGM6 CL E G H	343641	16255	OMIM:613908	Spinocerebellar ataxia 35			58
HP:0000496	HP:0000496	Abnormality of eye movement	0	TGM6 CL E G H	343641	16255	ORPHA:276193	Spinocerebellar ataxia type 35			58
HP:0000496	HP:0000496	Abnormality of eye movement	0	THG1L CL E G H	54974	26053	OMIM:618800	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 28; SCAR28
HP:0000496	HP:0000496	Abnormality of eye movement	0	THOC2 CL E G H	57187	19073	OMIM:300957	Mental retardation, X-linked 12/35			5
HP:0000496	HP:0000496	Abnormality of eye movement	0	THOC2 CL E G H	57187	19073	ORPHA:457240	X-linked intellectual disability-short stature-overweight syndrome			5
HP:0000496	HP:0000496	Abnormality of eye movement	0	THSD1 CL E G H	55901	17754	ORPHA:231160	Familial cerebral saccular aneurysm			2
HP:0000496	HP:0000496	Abnormality of eye movement	0	TIMM50 CL E G H	92609	23656	OMIM:617698	3-methylglutaconic aciduria, type IX			1
HP:0000496	HP:0000496	Abnormality of eye movement	0	TIMMDC1 CL E G H	51300	1321	ORPHA:2609	Isolated complex I deficiency			1
HP:0000496	HP:0000496	Abnormality of eye movement	0	TIMMDC1 CL E G H	51300	1321	OMIM:618251	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 31; MC1DN31			1
HP:0000496	HP:0000496	Abnormality of eye movement	0	TINF2 CL E G H	26277	11824	OMIM:268130	Revesz syndrome			60
HP:0000496	HP:0000496	Abnormality of eye movement	0	TK2 CL E G H	7084	11831	ORPHA:254886	Autosomal recessive progressive external ophthalmoplegia			103
HP:0000496	HP:0000496	Abnormality of eye movement	0	TK2 CL E G H	7084	11831	ORPHA:254875	Mitochondrial DNA depletion syndrome, myopathic form			103
HP:0000496	HP:0000496	Abnormality of eye movement	0	TK2 CL E G H	7084	11831	OMIM:617069	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3			103
HP:0000496	HP:0000496	Abnormality of eye movement	0	TKFC CL E G H	26007	24552	ORPHA:1369	Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome
HP:0000496	HP:0000496	Abnormality of eye movement	0	TKT CL E G H	7086	11834	OMIM:617044	Short stature, developmental delay, and congenital heart defects			4
HP:0000496	HP:0000496	Abnormality of eye movement	0	TLK2 CL E G H	11011	11842	OMIM:618050	Mental retardation, autosomal dominant 57			1
HP:0000496	HP:0000496	Abnormality of eye movement	0	TMCO1 CL E G H	54499	18188	ORPHA:1394	Cerebrofaciothoracic dysplasia			6
HP:0000496	HP:0000496	Abnormality of eye movement	0	TMCO1 CL E G H	54499	18188	OMIM:213980	Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome			6
HP:0000496	HP:0000496	Abnormality of eye movement	0	TMEM106B CL E G H	54664	22407	OMIM:617964	Leukodystrophy, hypomyelinating, 16
HP:0000496	HP:0000496	Abnormality of eye movement	0	TMEM107 CL E G H	84314	28128	OMIM:617562	Meckel syndrome 13			4
HP:0000496	HP:0000496	Abnormality of eye movement	0	TMEM107 CL E G H	84314	28128	OMIM:617563	Orofaciodigital syndrome XVI			4
HP:0000496	HP:0000496	Abnormality of eye movement	0	TMEM126A CL E G H	84233	25382	OMIM:612989	Optic atrophy 7 with or without auditory neuropathy			23
HP:0000496	HP:0000496	Abnormality of eye movement	0	TMEM126B CL E G H	55863	30883	ORPHA:2609	Isolated complex I deficiency			4
HP:0000496	HP:0000496	Abnormality of eye movement	0	TMEM138 CL E G H	51524	26944	OMIM:614465	JOUBERT SYNDROME 16; JBTS16			39
HP:0000496	HP:0000496	Abnormality of eye movement	0	TMEM138 CL E G H	51524	26944	ORPHA:2318	Joubert syndrome with oculorenal defect			39
HP:0000496	HP:0000496	Abnormality of eye movement	0	TMEM216 CL E G H	51259	25018	OMIM:608091	Joubert syndrome 2			45
HP:0000496	HP:0000496	Abnormality of eye movement	0	TMEM216 CL E G H	51259	25018	ORPHA:2318	Joubert syndrome with oculorenal defect			45
HP:0000496	HP:0000496	Abnormality of eye movement	0	TMEM216 CL E G H	51259	25018	ORPHA:2754	Orofaciodigital syndrome type 6			45
HP:0000496	HP:0000496	Abnormality of eye movement	0	TMEM218 CL E G H	219854	27344	ORPHA:475	Joubert syndrome
HP:0000496	HP:0000496	Abnormality of eye movement	0	TMEM218 CL E G H	219854	27344	OMIM:619562	JOUBERT SYNDROME 39; JBTS39
HP:0000496	HP:0000496	Abnormality of eye movement	0	TMEM222 CL E G H	84065	25363	OMIM:619470	NEURODEVELOPMENTAL DISORDER WITH MOTOR AND SPEECH DELAY AND BEHAVIORAL ABNORMALITIES; NEDMOSBA
HP:0000496	HP:0000496	Abnormality of eye movement	0	TMEM231 CL E G H	79583	37234	OMIM:614970	Joubert syndrome 20			33
HP:0000496	HP:0000496	Abnormality of eye movement	0	TMEM231 CL E G H	79583	37234	ORPHA:2318	Joubert syndrome with oculorenal defect			33
HP:0000496	HP:0000496	Abnormality of eye movement	0	TMEM231 CL E G H	79583	37234	ORPHA:2752	Orofaciodigital syndrome type 3			33
HP:0000496	HP:0000496	Abnormality of eye movement	0	TMEM237 CL E G H	65062	14432	ORPHA:475	Joubert syndrome			82
HP:0000496	HP:0000496	Abnormality of eye movement	0	TMEM237 CL E G H	65062	14432	OMIM:614424	Joubert syndrome 14			82
HP:0000496	HP:0000496	Abnormality of eye movement	0	TMEM237 CL E G H	65062	14432	ORPHA:2318	Joubert syndrome with oculorenal defect			82
HP:0000496	HP:0000496	Abnormality of eye movement	0	TMEM237 CL E G H	65062	14432	ORPHA:220497	Joubert syndrome with renal defect			82
HP:0000496	HP:0000496	Abnormality of eye movement	0	TMEM240 CL E G H	339453	25186	OMIM:607454	Spinocerebellar ataxia 21			9
HP:0000496	HP:0000496	Abnormality of eye movement	0	TMEM240 CL E G H	339453	25186	ORPHA:98773	Spinocerebellar ataxia type 21			9
HP:0000496	HP:0000496	Abnormality of eye movement	0	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome
HP:0000496	HP:0000496	Abnormality of eye movement	0	TMEM53 CL E G H	79639	26186	OMIM:619727	CRANIOTUBULAR DYSPLASIA, IKEGAWA TYPE; CTDI
HP:0000496	HP:0000496	Abnormality of eye movement	0	TMEM63A CL E G H	9725	29118	OMIM:618688	LEUKODYSTROPHY, HYPOMYELINATING, 19, TRANSIENT INFANTILE; HLD19
HP:0000496	HP:0000496	Abnormality of eye movement	0	TMEM63C CL E G H	57156	23787	OMIM:619966
HP:0000496	HP:0000496	Abnormality of eye movement	0	TMEM67 CL E G H	91147	28396	OMIM:615991	Bardet-Biedl syndrome 14			166
HP:0000496	HP:0000496	Abnormality of eye movement	0	TMEM67 CL E G H	91147	28396	OMIM:216360	Coach syndrome 1			166
HP:0000496	HP:0000496	Abnormality of eye movement	0	TMEM67 CL E G H	91147	28396	ORPHA:475	Joubert syndrome			166
HP:0000496	HP:0000496	Abnormality of eye movement	0	TMEM67 CL E G H	91147	28396	OMIM:610688	Joubert syndrome 6			166
HP:0000496	HP:0000496	Abnormality of eye movement	0	TMEM67 CL E G H	91147	28396	ORPHA:1454	Joubert syndrome with hepatic defect			166
HP:0000496	HP:0000496	Abnormality of eye movement	0	TMEM67 CL E G H	91147	28396	OMIM:613550	NEPHRONOPHTHISIS 11; NPHP11			166
HP:0000496	HP:0000496	Abnormality of eye movement	0	TMEM67 CL E G H	91147	28396	OMIM:602152	Rhyns syndrome			166
HP:0000496	HP:0000496	Abnormality of eye movement	0	TMEM94 CL E G H	9772	28983	OMIM:618316	Intellectual developmental disorder with cardiac defects and dysmorphic facies			1
HP:0000496	HP:0000496	Abnormality of eye movement	0	TMEM98 CL E G H	26022	24529	ORPHA:35612	Nanophthalmos			3
HP:0000496	HP:0000496	Abnormality of eye movement	0	TNFRSF11A CL E G H	8792	11908	ORPHA:1782	Dysosteosclerosis			72
HP:0000496	HP:0000496	Abnormality of eye movement	0	TNFRSF11A CL E G H	8792	11908	OMIM:612301	OSTEOPETROSIS, AUTOSOMAL RECESSIVE 7; OPTB7			72
HP:0000496	HP:0000496	Abnormality of eye movement	0	TNFSF11 CL E G H	8600	11926	ORPHA:667	Autosomal recessive malignant osteopetrosis			44
HP:0000496	HP:0000496	Abnormality of eye movement	0	TNFSF11 CL E G H	8600	11926	OMIM:259710	Osteopetrosis, autosomal recessive 2			44
HP:0000496	HP:0000496	Abnormality of eye movement	0	TNPO2 CL E G H	30000	19998	OMIM:619556	INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA, IMPAIRED SPEECH, AND DYSMORPHIC FACIES; IDDHISD
HP:0000496	HP:0000496	Abnormality of eye movement	0	TNR CL E G H	7143	11953	OMIM:619653	NEURODEVELOPMENTAL DISORDER, NONPROGRESSIVE, WITH SPASTICITY AND TRANSIENT OPISTHOTONUS; NEDSTO			7
HP:0000496	HP:0000496	Abnormality of eye movement	0	TOE1 CL E G H	114034	15954	ORPHA:284339	Pontocerebellar hypoplasia type 7			6
HP:0000496	HP:0000496	Abnormality of eye movement	0	TOE1 CL E G H	114034	15954	OMIM:614969	Pontocerebellar hypoplasia, type 7			6
HP:0000496	HP:0000496	Abnormality of eye movement	0	TOGARAM1 CL E G H	23116	19959	ORPHA:475	Joubert syndrome
HP:0000496	HP:0000496	Abnormality of eye movement	0	TOGARAM1 CL E G H	23116	19959	OMIM:619185	JOUBERT SYNDROME 37; JBTS37
HP:0000496	HP:0000496	Abnormality of eye movement	0	TOMM40 CL E G H	10452	18001	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease
HP:0000496	HP:0000496	Abnormality of eye movement	0	TONSL CL E G H	4796	7801	ORPHA:93357	SPONASTRIME dysplasia
HP:0000496	HP:0000496	Abnormality of eye movement	0	TOP3A CL E G H	7156	11992	OMIM:618098	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5
HP:0000496	HP:0000496	Abnormality of eye movement	0	TOPORS CL E G H	10210	21653	ORPHA:2754	Orofaciodigital syndrome type 6			61
HP:0000496	HP:0000496	Abnormality of eye movement	0	TOPORS CL E G H	10210	21653	ORPHA:791	Retinitis pigmentosa			61
HP:0000496	HP:0000496	Abnormality of eye movement	0	TOR1A CL E G H	1861	3098	OMIM:618947	ARTHROGRYPOSIS MULTIPLEX CONGENITA 5; AMC5			47
HP:0000496	HP:0000496	Abnormality of eye movement	0	TPK1 CL E G H	27010	17358	OMIM:614458	Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type)			21
HP:0000496	HP:0000496	Abnormality of eye movement	0	TPM2 CL E G H	7169	12011	ORPHA:2020	Congenital fiber-type disproportion myopathy			54
HP:0000496	HP:0000496	Abnormality of eye movement	0	TPM2 CL E G H	7169	12011	OMIM:255310	Myopathy, congenital, with fiber-type disproportion			54
HP:0000496	HP:0000496	Abnormality of eye movement	0	TPM3 CL E G H	7170	12012	ORPHA:2020	Congenital fiber-type disproportion myopathy			108
HP:0000496	HP:0000496	Abnormality of eye movement	0	TPM3 CL E G H	7170	12012	ORPHA:171433	Intermediate nemaline myopathy			108
HP:0000496	HP:0000496	Abnormality of eye movement	0	TPM3 CL E G H	7170	12012	OMIM:255310	Myopathy, congenital, with fiber-type disproportion			108
HP:0000496	HP:0000496	Abnormality of eye movement	0	TPP1 CL E G H	1200	2073	ORPHA:284324	Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia			203
HP:0000496	HP:0000496	Abnormality of eye movement	0	TPP1 CL E G H	1200	2073	OMIM:609270	Spinocerebellar ataxia, autosomal recessive 7			203
HP:0000496	HP:0000496	Abnormality of eye movement	0	TRAF3IP1 CL E G H	26146	17861	OMIM:616629	Senior-Loken syndrome 9			6
HP:0000496	HP:0000496	Abnormality of eye movement	0	TRAF7 CL E G H	84231	20456	ORPHA:2495	Meningioma
HP:0000496	HP:0000496	Abnormality of eye movement	0	TRAK1 CL E G H	22906	29947	ORPHA:442835	Non-specific early-onset epileptic encephalopathy
HP:0000496	HP:0000496	Abnormality of eye movement	0	TRAPPC11 CL E G H	60684	25751	ORPHA:369847	Intellectual disability-hyperkinetic movement-truncal ataxia syndrome			27
HP:0000496	HP:0000496	Abnormality of eye movement	0	TRAPPC11 CL E G H	60684	25751	OMIM:615356	Muscular dystrophy, limb-girdle, autosomal recessive 18			27
HP:0000496	HP:0000496	Abnormality of eye movement	0	TRAPPC11 CL E G H	60684	25751	ORPHA:369840	TRAPPC11-related limb-girdle muscular dystrophy R18			27
HP:0000496	HP:0000496	Abnormality of eye movement	0	TRAPPC6B CL E G H	122553	23066	OMIM:617862	Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy
HP:0000496	HP:0000496	Abnormality of eye movement	0	TREM2 CL E G H	54209	17761	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease			31
HP:0000496	HP:0000496	Abnormality of eye movement	0	TREM2 CL E G H	54209	17761	ORPHA:2770	Nasu-Hakola disease			31
HP:0000496	HP:0000496	Abnormality of eye movement	0	TREX1 CL E G H	11277	12269	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional		56
HP:0000496	HP:0000496	Abnormality of eye movement	0	TREX1 CL E G H	11277	12269	OMIM:225750	Aicardi-Goutieres syndrome 1			56
HP:0000496	HP:0000496	Abnormality of eye movement	0	TRIM32 CL E G H	22954	16380	ORPHA:110	Bardet-Biedl syndrome			108
HP:0000496	HP:0000496	Abnormality of eye movement	0	TRIM37 CL E G H	4591	7523	OMIM:253250	Mulibrey nanism			78
HP:0000496	HP:0000496	Abnormality of eye movement	0	TRIM44 CL E G H	54765	19016	ORPHA:250923	Isolated aniridia			1
HP:0000496	HP:0000496	Abnormality of eye movement	0	TRIM8 CL E G H	81603	15579	ORPHA:1934	Early infantile epileptic encephalopathy			1
HP:0000496	HP:0000496	Abnormality of eye movement	0	TRIO CL E G H	7204	12303	ORPHA:476126	Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome			8
HP:0000496	HP:0000496	Abnormality of eye movement	0	TRIP11 CL E G H	9321	12305	ORPHA:166272	Odontochondrodysplasia			133
HP:0000496	HP:0000496	Abnormality of eye movement	0	TRIP12 CL E G H	9320	12306	OMIM:617752	Mental retardation, autosomal dominant 49			2
HP:0000496	HP:0000496	Abnormality of eye movement	0	TRIP13 CL E G H	9319	12307	OMIM:617598	Mosaic variegated aneuploidy syndrome 3			2
HP:0000496	HP:0000496	Abnormality of eye movement	0	TRIT1 CL E G H	54802	20286	OMIM:617873	Combined oxidative phosphorylation deficiency 35			12
HP:0000496	HP:0000496	Abnormality of eye movement	0	TRNC CL E G H	4511	7477	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0000496	HP:0000496	Abnormality of eye movement	0	TRNE CL E G H	4556	7479	ORPHA:225	Maternally-inherited diabetes and deafness
HP:0000496	HP:0000496	Abnormality of eye movement	0	TRNF CL E G H	4558	7481	ORPHA:550	MELAS
HP:0000496	HP:0000496	Abnormality of eye movement	0	TRNF CL E G H	4558	7481	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0000496	HP:0000496	Abnormality of eye movement	0	TRNH CL E G H	4564	7487	ORPHA:550	MELAS
HP:0000496	HP:0000496	Abnormality of eye movement	0	TRNK CL E G H	4566	7489	ORPHA:225	Maternally-inherited diabetes and deafness
HP:0000496	HP:0000496	Abnormality of eye movement	0	TRNK CL E G H	4566	7489	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0000496	HP:0000496	Abnormality of eye movement	0	TRNK CL E G H	4566	7489	ORPHA:1349	Mitochondrial DNA-related cardiomyopathy and hearing loss
HP:0000496	HP:0000496	Abnormality of eye movement	0	TRNK CL E G H	4566	7489	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0000496	HP:0000496	Abnormality of eye movement	0	TRNL1 CL E G H	4567	7490	ORPHA:480	Kearns-Sayre syndrome
HP:0000496	HP:0000496	Abnormality of eye movement	0	TRNL1 CL E G H	4567	7490	ORPHA:225	Maternally-inherited diabetes and deafness
HP:0000496	HP:0000496	Abnormality of eye movement	0	TRNL1 CL E G H	4567	7490	ORPHA:550	MELAS
HP:0000496	HP:0000496	Abnormality of eye movement	0	TRNL1 CL E G H	4567	7490	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0000496	HP:0000496	Abnormality of eye movement	0	TRNL1 CL E G H	4567	7490	ORPHA:663	Mitochondrial DNA-related progressive external ophthalmoplegia
HP:0000496	HP:0000496	Abnormality of eye movement	0	TRNL1 CL E G H	4567	7490	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0000496	HP:0000496	Abnormality of eye movement	0	TRNL2 CL E G H	4568	7491	ORPHA:663	Mitochondrial DNA-related progressive external ophthalmoplegia
HP:0000496	HP:0000496	Abnormality of eye movement	0	TRNN CL E G H	4570	7493	OMIM:220110	Mitochondrial complex IV deficiency
HP:0000496	HP:0000496	Abnormality of eye movement	0	TRNN CL E G H	4570	7493	ORPHA:663	Mitochondrial DNA-related progressive external ophthalmoplegia
HP:0000496	HP:0000496	Abnormality of eye movement	0	TRNQ CL E G H	4572	7495	ORPHA:550	MELAS
HP:0000496	HP:0000496	Abnormality of eye movement	0	TRNQ CL E G H	4572	7495	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0000496	HP:0000496	Abnormality of eye movement	0	TRNS1 CL E G H	4574	7497	ORPHA:550	MELAS
HP:0000496	HP:0000496	Abnormality of eye movement	0	TRNS1 CL E G H	4574	7497	OMIM:220110	Mitochondrial complex IV deficiency
HP:0000496	HP:0000496	Abnormality of eye movement	0	TRNS1 CL E G H	4574	7497	ORPHA:663	Mitochondrial DNA-related progressive external ophthalmoplegia
HP:0000496	HP:0000496	Abnormality of eye movement	0	TRNS1 CL E G H	4574	7497	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0000496	HP:0000496	Abnormality of eye movement	0	TRNS2 CL E G H	4575	7498	ORPHA:550	MELAS
HP:0000496	HP:0000496	Abnormality of eye movement	0	TRNS2 CL E G H	4575	7498	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0000496	HP:0000496	Abnormality of eye movement	0	TRNT CL E G H	4576	7499	ORPHA:254857	Lethal infantile mitochondrial myopathy
HP:0000496	HP:0000496	Abnormality of eye movement	0	TRNV CL E G H	4577	7500	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0000496	HP:0000496	Abnormality of eye movement	0	TRNV CL E G H	4577	7500	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0000496	HP:0000496	Abnormality of eye movement	0	TRNW CL E G H	4578	7501	ORPHA:550	MELAS
HP:0000496	HP:0000496	Abnormality of eye movement	0	TRNW CL E G H	4578	7501	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0000496	HP:0000496	Abnormality of eye movement	0	TRNW CL E G H	4578	7501	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0000496	HP:0000496	Abnormality of eye movement	0	TRPM1 CL E G H	4308	7146	ORPHA:215	Congenital stationary night blindness			104
HP:0000496	HP:0000496	Abnormality of eye movement	0	TRPM1 CL E G H	4308	7146	OMIM:613216	NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1C; CSNB1C			104
HP:0000496	HP:0000496	Abnormality of eye movement	0	TRPV4 CL E G H	59341	18083	OMIM:606071	Hereditary motor and sensory neuropathy, type IIC			214
HP:0000496	HP:0000496	Abnormality of eye movement	0	TSEN15 CL E G H	116461	16791	OMIM:617026	Pontocerebellar hypoplasia, type 2F			3
HP:0000496	HP:0000496	Abnormality of eye movement	0	TSEN54 CL E G H	283989	27561	OMIM:277470	Pontocerebellar hypoplasia, type 2A			102
HP:0000496	HP:0000496	Abnormality of eye movement	0	TSPAN7 CL E G H	7102	11854	OMIM:300210	MENTAL RETARDATION, X-LINKED 58; MRX58			26
HP:0000496	HP:0000496	Abnormality of eye movement	0	TSPYL1 CL E G H	7259	12382	ORPHA:168593	Sudden infant death-dysgenesis of the testes syndrome			1
HP:0000496	HP:0000496	Abnormality of eye movement	0	TSR2 CL E G H	90121	25455	ORPHA:124	Blackfan-Diamond anemia			1
HP:0000496	HP:0000496	Abnormality of eye movement	0	TTBK2 CL E G H	146057	19141	OMIM:604432	Spinocerebellar ataxia 11			57
HP:0000496	HP:0000496	Abnormality of eye movement	0	TTBK2 CL E G H	146057	19141	ORPHA:98767	Spinocerebellar ataxia type 11			57
HP:0000496	HP:0000496	Abnormality of eye movement	0	TTC19 CL E G H	54902	26006	OMIM:615157	Mitochondrial complex III deficiency, nuclear type 2			88
HP:0000496	HP:0000496	Abnormality of eye movement	0	TTC8 CL E G H	123016	20087	ORPHA:110	Bardet-Biedl syndrome			41
HP:0000496	HP:0000496	Abnormality of eye movement	0	TTC8 CL E G H	123016	20087	ORPHA:791	Retinitis pigmentosa			41
HP:0000496	HP:0000496	Abnormality of eye movement	0	TTI2 CL E G H	80185	26262	OMIM:615541	Mental retardation, autosomal recessive 39			11
HP:0000496	HP:0000496	Abnormality of eye movement	0	TTI2 CL E G H	80185	26262	ORPHA:391307	Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome			11
HP:0000496	HP:0000496	Abnormality of eye movement	0	TTN CL E G H	7273	12403	ORPHA:169186	Autosomal recessive centronuclear myopathy			7128
HP:0000496	HP:0000496	Abnormality of eye movement	0	TTPA CL E G H	7274	12404	ORPHA:96	Ataxia with vitamin E deficiency			62
HP:0000496	HP:0000496	Abnormality of eye movement	0	TTR CL E G H	7276	12405	OMIM:105210	Amyloidosis, hereditary, transthyretin-related			107
HP:0000496	HP:0000496	Abnormality of eye movement	0	TUB CL E G H	7275	12406	ORPHA:791	Retinitis pigmentosa			1
HP:0000496	HP:0000496	Abnormality of eye movement	0	TUBA1A CL E G H	7846	20766	ORPHA:171680	Lissencephaly due to TUBA1A mutation			106
HP:0000496	HP:0000496	Abnormality of eye movement	0	TUBA1A CL E G H	7846	20766	ORPHA:467166	Tubulinopathy-associated dysgyria			106
HP:0000496	HP:0000496	Abnormality of eye movement	0	TUBB2B CL E G H	347733	30829	OMIM:610031	Cortical dysplasia, complex, with other brain malformations 7			39
HP:0000496	HP:0000496	Abnormality of eye movement	0	TUBB2B CL E G H	347733	30829	ORPHA:1766	Dysequilibrium syndrome			39
HP:0000496	HP:0000496	Abnormality of eye movement	0	TUBB2B CL E G H	347733	30829	ORPHA:300573	Polymicrogyria due to TUBB2B mutation			39
HP:0000496	HP:0000496	Abnormality of eye movement	0	TUBB2B CL E G H	347733	30829	ORPHA:467166	Tubulinopathy-associated dysgyria			39
HP:0000496	HP:0000496	Abnormality of eye movement	0	TUBB3 CL E G H	10381	20772	ORPHA:300570	Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation	HP:0040282 - Frequent		64
HP:0000496	HP:0000496	Abnormality of eye movement	0	TUBB3 CL E G H	10381	20772	OMIM:614039	Cortical dysplasia, complex, with other brain malformations 1			64
HP:0000496	HP:0000496	Abnormality of eye movement	0	TUBB3 CL E G H	10381	20772	OMIM:600638	Fibrosis of extraocular muscles, congenital, 3A, with or without extraocularinvolvement			64
HP:0000496	HP:0000496	Abnormality of eye movement	0	TUBB3 CL E G H	10381	20772	ORPHA:467166	Tubulinopathy-associated dysgyria			64
HP:0000496	HP:0000496	Abnormality of eye movement	0	TUBB4A CL E G H	10382	20774	OMIM:612438	Leukodystrophy, hypomyelinating, 6			66
HP:0000496	HP:0000496	Abnormality of eye movement	0	TUBB4B CL E G H	10383	20771	ORPHA:65	Leber congenital amaurosis
HP:0000496	HP:0000496	Abnormality of eye movement	0	TUBB4B CL E G H	10383	20771	OMIM:617879	Leber congenital amaurosis with early-onset deafness
HP:0000496	HP:0000496	Abnormality of eye movement	0	TUBGCP4 CL E G H	27229	16691	ORPHA:2518	Autosomal recessive chorioretinopathy-microcephaly syndrome			14
HP:0000496	HP:0000496	Abnormality of eye movement	0	TUBGCP4 CL E G H	27229	16691	OMIM:616335	Microcephaly and chorioretinopathy, autosomal recessive, 3			14
HP:0000496	HP:0000496	Abnormality of eye movement	0	TUBGCP6 CL E G H	85378	18127	ORPHA:2518	Autosomal recessive chorioretinopathy-microcephaly syndrome			61
HP:0000496	HP:0000496	Abnormality of eye movement	0	TUBGCP6 CL E G H	85378	18127	OMIM:251270	Microcephaly and chorioretinopathy, autosomal recessive, 1			61
HP:0000496	HP:0000496	Abnormality of eye movement	0	TUFM CL E G H	7284	12420	OMIM:610678	Combined oxidative phosphorylation deficiency 4			55
HP:0000496	HP:0000496	Abnormality of eye movement	0	TULP1 CL E G H	7287	12423	ORPHA:65	Leber congenital amaurosis			66
HP:0000496	HP:0000496	Abnormality of eye movement	0	TULP1 CL E G H	7287	12423	OMIM:613843	Leber congenital amaurosis 15			66
HP:0000496	HP:0000496	Abnormality of eye movement	0	TULP1 CL E G H	7287	12423	ORPHA:791	Retinitis pigmentosa			66
HP:0000496	HP:0000496	Abnormality of eye movement	0	TULP1 CL E G H	7287	12423	OMIM:600132	RETINITIS PIGMENTOSA 14; RP14			66
HP:0000496	HP:0000496	Abnormality of eye movement	0	TWIST1 CL E G H	7291	12428	OMIM:180750	Robinow-Sorauf syndrome			18
HP:0000496	HP:0000496	Abnormality of eye movement	0	TWIST1 CL E G H	7291	12428	OMIM:101400	Saethre-Chotzen syndrome			18
HP:0000496	HP:0000496	Abnormality of eye movement	0	TWIST1 CL E G H	7291	12428	ORPHA:794	Saethre-Chotzen syndrome			18
HP:0000496	HP:0000496	Abnormality of eye movement	0	TWIST2 CL E G H	117581	20670	ORPHA:1807	Focal facial dermal dysplasia type III			7
HP:0000496	HP:0000496	Abnormality of eye movement	0	TWNK CL E G H	56652	1160	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040282 - Frequent		113
HP:0000496	HP:0000496	Abnormality of eye movement	0	TWNK CL E G H	56652	1160	ORPHA:1186	Infantile-onset spinocerebellar ataxia			113
HP:0000496	HP:0000496	Abnormality of eye movement	0	TWNK CL E G H	56652	1160	OMIM:271245	Mitochondrial DNA depletion syndrome 7 (hepatocerebral type)			113
HP:0000496	HP:0000496	Abnormality of eye movement	0	TWNK CL E G H	56652	1160	OMIM:616138	Perrault syndrome 5			113
HP:0000496	HP:0000496	Abnormality of eye movement	0	TWNK CL E G H	56652	1160	OMIM:609286	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3			113
HP:0000496	HP:0000496	Abnormality of eye movement	0	TWNK CL E G H	56652	1160	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis			113
HP:0000496	HP:0000496	Abnormality of eye movement	0	TWNK CL E G H	56652	1160	ORPHA:70595	Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome			113
HP:0000496	HP:0000496	Abnormality of eye movement	0	TYMP CL E G H	1890	3148	OMIM:603041	Mitochondrial DNA depletion syndrome 1 (mngie type)			138
HP:0000496	HP:0000496	Abnormality of eye movement	0	TYMP CL E G H	1890	3148	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy			138
HP:0000496	HP:0000496	Abnormality of eye movement	0	TYR CL E G H	7299	12442	OMIM:203100	Albinism, oculocutaneous, type IA			146
HP:0000496	HP:0000496	Abnormality of eye movement	0	TYR CL E G H	7299	12442	OMIM:606952	Albinism, oculocutaneous, type IB			146
HP:0000496	HP:0000496	Abnormality of eye movement	0	TYR CL E G H	7299	12442	ORPHA:79431	Oculocutaneous albinism type 1A			146
HP:0000496	HP:0000496	Abnormality of eye movement	0	TYR CL E G H	7299	12442	ORPHA:79434	Oculocutaneous albinism type 1B			146
HP:0000496	HP:0000496	Abnormality of eye movement	0	TYROBP CL E G H	7305	12449	ORPHA:2770	Nasu-Hakola disease			22
HP:0000496	HP:0000496	Abnormality of eye movement	0	TYRP1 CL E G H	7306	12450	OMIM:203290	Albinism, oculocutaneous, type III			62
HP:0000496	HP:0000496	Abnormality of eye movement	0	TYRP1 CL E G H	7306	12450	ORPHA:79433	Oculocutaneous albinism type 3			62
HP:0000496	HP:0000496	Abnormality of eye movement	0	UBA2 CL E G H	10054	30661	OMIM:619959
HP:0000496	HP:0000496	Abnormality of eye movement	0	UBA5 CL E G H	79876	23230	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			13
HP:0000496	HP:0000496	Abnormality of eye movement	0	UBA5 CL E G H	79876	23230	OMIM:617133	Spinocerebellar ataxia, autosomal recessive 24			13
HP:0000496	HP:0000496	Abnormality of eye movement	0	UBAP1 CL E G H	51271	12461	OMIM:618418	Spastic paraplegia 80, autosomal dominant
HP:0000496	HP:0000496	Abnormality of eye movement	0	UBE2A CL E G H	7319	12472	ORPHA:163956	X-linked intellectual disability, Nascimento type			7
HP:0000496	HP:0000496	Abnormality of eye movement	0	UBE2T CL E G H	29089	25009	ORPHA:84	Fanconi anemia			2
HP:0000496	HP:0000496	Abnormality of eye movement	0	UBE3A CL E G H	7337	12496	OMIM:105830	Angelman syndrome			278
HP:0000496	HP:0000496	Abnormality of eye movement	0	UBE3A CL E G H	7337	12496	ORPHA:411511	Angelman syndrome due to a point mutation			278
HP:0000496	HP:0000496	Abnormality of eye movement	0	UBE3A CL E G H	7337	12496	ORPHA:98794	Angelman syndrome due to maternal 15q11q13 deletion			278
HP:0000496	HP:0000496	Abnormality of eye movement	0	UBE3B CL E G H	89910	13478	OMIM:244450	Kaufman oculocerebrofacial syndrome			13
HP:0000496	HP:0000496	Abnormality of eye movement	0	UBE3B CL E G H	89910	13478	ORPHA:2707	Oculocerebrofacial syndrome, Kaufman type			13
HP:0000496	HP:0000496	Abnormality of eye movement	0	UBE4B CL E G H	10277	12500	ORPHA:1606	1p36 deletion syndrome
HP:0000496	HP:0000496	Abnormality of eye movement	0	UBR1 CL E G H	197131	16808	OMIM:243800	Johanson-Blizzard syndrome			25
HP:0000496	HP:0000496	Abnormality of eye movement	0	UCHL1 CL E G H	7345	12513	OMIM:615491	Spastic paraplegia 79, autosomal recessive			21
HP:0000496	HP:0000496	Abnormality of eye movement	0	UFC1 CL E G H	51506	26941	OMIM:618076	Neurodevelopmental disorder with spasticity and poor growth	.
HP:0000496	HP:0000496	Abnormality of eye movement	0	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome
HP:0000496	HP:0000496	Abnormality of eye movement	0	UFSP2 CL E G H	55325	25640	OMIM:620028				2
HP:0000496	HP:0000496	Abnormality of eye movement	0	UGP2 CL E G H	7360	12527	OMIM:618744	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 83; DEE83
HP:0000496	HP:0000496	Abnormality of eye movement	0	UGT1A1 CL E G H	54658	12530	ORPHA:79234	Crigler-Najjar syndrome type 1			73
HP:0000496	HP:0000496	Abnormality of eye movement	0	UNC80 CL E G H	285175	26582	OMIM:616801	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2			23
HP:0000496	HP:0000496	Abnormality of eye movement	0	UNC80 CL E G H	285175	26582	ORPHA:371364	Hypotonia-speech impairment-severe cognitive delay syndrome			23
HP:0000496	HP:0000496	Abnormality of eye movement	0	UROC1 CL E G H	131669	26444	OMIM:276880	Urocanase deficiency			8
HP:0000496	HP:0000496	Abnormality of eye movement	0	UROC1 CL E G H	131669	26444	ORPHA:210128	Urocanic aciduria			8
HP:0000496	HP:0000496	Abnormality of eye movement	0	USH1C CL E G H	10083	12597	OMIM:276900	Usher syndrome, type I			173
HP:0000496	HP:0000496	Abnormality of eye movement	0	USH2A CL E G H	7399	12601	ORPHA:791	Retinitis pigmentosa			777
HP:0000496	HP:0000496	Abnormality of eye movement	0	USH2A CL E G H	7399	12601	ORPHA:231178	Usher syndrome type 2			777
HP:0000496	HP:0000496	Abnormality of eye movement	0	USP45 CL E G H	85015	20080	ORPHA:65	Leber congenital amaurosis
HP:0000496	HP:0000496	Abnormality of eye movement	0	USP45 CL E G H	85015	20080	OMIM:618513	LEBER CONGENITAL AMAUROSIS 19; LCA19
HP:0000496	HP:0000496	Abnormality of eye movement	0	USP7 CL E G H	7874	12630	ORPHA:500055	16p13.2 microdeletion syndrome			2
HP:0000496	HP:0000496	Abnormality of eye movement	0	USP7 CL E G H	7874	12630	OMIM:616863	Chromosome 16p13.2 deletion syndrome			2
HP:0000496	HP:0000496	Abnormality of eye movement	0	USP8 CL E G H	9101	12631	ORPHA:401795	Autosomal recessive spastic paraplegia type 59			7
HP:0000496	HP:0000496	Abnormality of eye movement	0	USP9X CL E G H	8239	12632	OMIM:300968	Mental retardation, X-linked 99, syndromic, female-restricted			27
HP:0000496	HP:0000496	Abnormality of eye movement	0	USP9X CL E G H	8239	12632	ORPHA:480880	X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability			27
HP:0000496	HP:0000496	Abnormality of eye movement	0	VAMP1 CL E G H	6843	12642	ORPHA:251282	Autosomal dominant spastic ataxia type 1			2
HP:0000496	HP:0000496	Abnormality of eye movement	0	VAMP1 CL E G H	6843	12642	OMIM:618323	Myasthenic syndrome, congenital, 25, presynaptic			2
HP:0000496	HP:0000496	Abnormality of eye movement	0	VAMP1 CL E G H	6843	12642	ORPHA:98914	Presynaptic congenital myasthenic syndromes			2
HP:0000496	HP:0000496	Abnormality of eye movement	0	VAMP1 CL E G H	6843	12642	OMIM:108600	Spastic ataxia 1, autosomal dominant	.		2
HP:0000496	HP:0000496	Abnormality of eye movement	0	VARS2 CL E G H	57176	21642	OMIM:615917	Combined oxidative phosphorylation deficiency 20			56
HP:0000496	HP:0000496	Abnormality of eye movement	0	VCP CL E G H	7415	12666	ORPHA:275872	Frontotemporal dementia with motor neuron disease			63
HP:0000496	HP:0000496	Abnormality of eye movement	0	VLDLR CL E G H	7436	12698	OMIM:224050	Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1			111
HP:0000496	HP:0000496	Abnormality of eye movement	0	VLDLR CL E G H	7436	12698	ORPHA:1766	Dysequilibrium syndrome			111
HP:0000496	HP:0000496	Abnormality of eye movement	0	VMA21 CL E G H	203547	22082	OMIM:310440	Myopathy, X-linked, with excessive autophagy			10
HP:0000496	HP:0000496	Abnormality of eye movement	0	VPS13A CL E G H	23230	1908	ORPHA:2388	Choreoacanthocytosis	HP:0040283 - Occasional		130
HP:0000496	HP:0000496	Abnormality of eye movement	0	VPS13B CL E G H	157680	2183	ORPHA:193	Cohen syndrome			546
HP:0000496	HP:0000496	Abnormality of eye movement	0	VPS13D CL E G H	55187	23595	ORPHA:95434	Autosomal recessive cerebellar ataxia-movement disorder syndrome	HP:0040282 - Frequent
HP:0000496	HP:0000496	Abnormality of eye movement	0	VPS13D CL E G H	55187	23595	OMIM:607317	Spinocerebellar ataxia, autosomal recessive 4
HP:0000496	HP:0000496	Abnormality of eye movement	0	VPS33A CL E G H	65082	18179	ORPHA:505248	Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders			1
HP:0000496	HP:0000496	Abnormality of eye movement	0	VPS33A CL E G H	65082	18179	OMIM:617303	Mucopolysaccharidosis-Plus syndrome			1
HP:0000496	HP:0000496	Abnormality of eye movement	0	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome
HP:0000496	HP:0000496	Abnormality of eye movement	0	VPS41 CL E G H	27072	12713	ORPHA:95434	Autosomal recessive cerebellar ataxia-movement disorder syndrome	HP:0040282 - Frequent
HP:0000496	HP:0000496	Abnormality of eye movement	0	VPS41 CL E G H	27072	12713	OMIM:619389	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 29; SCAR29
HP:0000496	HP:0000496	Abnormality of eye movement	0	VPS4A CL E G H	27183	13488	OMIM:619273	CIMDAG SYNDROME; CIMDAG			1
HP:0000496	HP:0000496	Abnormality of eye movement	0	VPS50 CL E G H	55610	25956	OMIM:619685	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND NEONATAL CHOLESTASIS; NEDMSC
HP:0000496	HP:0000496	Abnormality of eye movement	0	VPS51 CL E G H	738	1172	OMIM:618606	PONTOCEREBELLAR HYPOPLASIA, TYPE 13; PCH13
HP:0000496	HP:0000496	Abnormality of eye movement	0	VPS53 CL E G H	55275	25608	OMIM:615851	Pontocerebellar hypoplasia, type 2E			26
HP:0000496	HP:0000496	Abnormality of eye movement	0	VRK1 CL E G H	7443	12718	ORPHA:2254	Pontocerebellar hypoplasia type 1			32
HP:0000496	HP:0000496	Abnormality of eye movement	0	VSX1 CL E G H	30813	12723	ORPHA:98973	Posterior polymorphous corneal dystrophy			47
HP:0000496	HP:0000496	Abnormality of eye movement	0	VWA3B CL E G H	200403	28385	OMIM:616948	Spinocerebellar ataxia, autosomal recessive 22			1
HP:0000496	HP:0000496	Abnormality of eye movement	0	WAC CL E G H	51322	17327	OMIM:616708	Desanto-Shinawi syndrome			20
HP:0000496	HP:0000496	Abnormality of eye movement	0	WAC CL E G H	51322	17327	ORPHA:284169	Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion			20
HP:0000496	HP:0000496	Abnormality of eye movement	0	WAC CL E G H	51322	17327	ORPHA:466950	Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation			20
HP:0000496	HP:0000496	Abnormality of eye movement	0	WARS2 CL E G H	10352	12730	OMIM:617710	Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures			2
HP:0000496	HP:0000496	Abnormality of eye movement	0	WARS2 CL E G H	10352	12730	ORPHA:572798	WARS2-related combined oxidative phosphorylation defect			2
HP:0000496	HP:0000496	Abnormality of eye movement	0	WASF1 CL E G H	8936	12732	OMIM:618707	NEURODEVELOPMENTAL DISORDER WITH ABSENT LANGUAGE AND VARIABLE SEIZURES; NEDALVS
HP:0000496	HP:0000496	Abnormality of eye movement	0	WASHC4 CL E G H	23325	29174	OMIM:615817	Mental retardation, autosomal recessive 43			25
HP:0000496	HP:0000496	Abnormality of eye movement	0	WDPCP CL E G H	51057	28027	ORPHA:110	Bardet-Biedl syndrome			60
HP:0000496	HP:0000496	Abnormality of eye movement	0	WDR11 CL E G H	55717	13831	ORPHA:478	Kallmann syndrome			10
HP:0000496	HP:0000496	Abnormality of eye movement	0	WDR19 CL E G H	57728	18340	ORPHA:1515	Cranioectodermal dysplasia			95
HP:0000496	HP:0000496	Abnormality of eye movement	0	WDR26 CL E G H	80232	21208	ORPHA:513456	Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome			8
HP:0000496	HP:0000496	Abnormality of eye movement	0	WDR26 CL E G H	80232	21208	OMIM:617616	Skraban-Deardorff syndrome			8
HP:0000496	HP:0000496	Abnormality of eye movement	0	WDR35 CL E G H	57539	29250	ORPHA:1515	Cranioectodermal dysplasia			136
HP:0000496	HP:0000496	Abnormality of eye movement	0	WDR35 CL E G H	57539	29250	OMIM:613610	Cranioectodermal dysplasia 2			136
HP:0000496	HP:0000496	Abnormality of eye movement	0	WDR45 CL E G H	11152	28912	OMIM:615179	Albinism, oculocutaneous, type V			51
HP:0000496	HP:0000496	Abnormality of eye movement	0	WDR45 CL E G H	11152	28912	ORPHA:329284	Beta-propeller protein-associated neurodegeneration	HP:0040282 - Frequent		51
HP:0000496	HP:0000496	Abnormality of eye movement	0	WDR45 CL E G H	11152	28912	OMIM:300894	Neurodegeneration with brain iron accumulation 5	.		51
HP:0000496	HP:0000496	Abnormality of eye movement	0	WDR48 CL E G H	57599	30914	ORPHA:401800	Autosomal recessive spastic paraplegia type 60			1
HP:0000496	HP:0000496	Abnormality of eye movement	0	WDR73 CL E G H	84942	25928	OMIM:251300	Galloway-mowat syndrome 1			14
HP:0000496	HP:0000496	Abnormality of eye movement	0	WDR81 CL E G H	124997	26600	OMIM:610185	Cerebellar ataxia, mental retardation, and dysequilibrium syndrome2			27
HP:0000496	HP:0000496	Abnormality of eye movement	0	WDR81 CL E G H	124997	26600	ORPHA:1766	Dysequilibrium syndrome			27
HP:0000496	HP:0000496	Abnormality of eye movement	0	WFS1 CL E G H	7466	12762	ORPHA:3463	Wolfram syndrome			389
HP:0000496	HP:0000496	Abnormality of eye movement	0	WFS1 CL E G H	7466	12762	OMIM:222300	Wolfram syndrome 1			389
HP:0000496	HP:0000496	Abnormality of eye movement	0	WHRN CL E G H	25861	16361	ORPHA:231178	Usher syndrome type 2			155
HP:0000496	HP:0000496	Abnormality of eye movement	0	WNT5A CL E G H	7474	12784	ORPHA:3107	Autosomal dominant Robinow syndrome			98
HP:0000496	HP:0000496	Abnormality of eye movement	0	WT1 CL E G H	7490	12796	OMIM:106210	Aniridia			177
HP:0000496	HP:0000496	Abnormality of eye movement	0	WT1 CL E G H	7490	12796	ORPHA:893	WAGR syndrome			177
HP:0000496	HP:0000496	Abnormality of eye movement	0	WWOX CL E G H	51741	12799	ORPHA:284282	Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency			149
HP:0000496	HP:0000496	Abnormality of eye movement	0	WWOX CL E G H	51741	12799	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			149
HP:0000496	HP:0000496	Abnormality of eye movement	0	WWOX CL E G H	51741	12799	OMIM:614322	Spinocerebellar ataxia, autosomal recessive 12			149
HP:0000496	HP:0000496	Abnormality of eye movement	0	XPA CL E G H	7507	12814	ORPHA:910	Xeroderma pigmentosum			34
HP:0000496	HP:0000496	Abnormality of eye movement	0	XPC CL E G H	7508	12816	ORPHA:910	Xeroderma pigmentosum			86
HP:0000496	HP:0000496	Abnormality of eye movement	0	XRCC1 CL E G H	7515	12828	OMIM:617633	Spinocerebellar ataxia, autosomal recessive 26			4
HP:0000496	HP:0000496	Abnormality of eye movement	0	XRCC2 CL E G H	7516	12829	ORPHA:84	Fanconi anemia			125
HP:0000496	HP:0000496	Abnormality of eye movement	0	XRCC4 CL E G H	7518	12831	OMIM:616541	Short stature, microcephaly, and endocrine dysfunction			9
HP:0000496	HP:0000496	Abnormality of eye movement	0	XYLT2 CL E G H	64132	15517	ORPHA:85194	Spondylo-ocular syndrome			5
HP:0000496	HP:0000496	Abnormality of eye movement	0	XYLT2 CL E G H	64132	15517	OMIM:605822	Spondyloocular syndrome			5
HP:0000496	HP:0000496	Abnormality of eye movement	0	YAP1 CL E G H	10413	16262	ORPHA:1473	Uveal coloboma-cleft lip and palate-intellectual disability			2
HP:0000496	HP:0000496	Abnormality of eye movement	0	YARS1 CL E G H	8565	12840	OMIM:619418	NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2; IMNEPD2
HP:0000496	HP:0000496	Abnormality of eye movement	0	YARS2 CL E G H	51067	24249	OMIM:613561	Myopathy, lactic acidosis, and sideroblastic anemia 2			45
HP:0000496	HP:0000496	Abnormality of eye movement	0	YME1L1 CL E G H	10730	12843	OMIM:617302	Optic atrophy 11			2
HP:0000496	HP:0000496	Abnormality of eye movement	0	YWHAG CL E G H	7532	12852	ORPHA:442835	Non-specific early-onset epileptic encephalopathy
HP:0000496	HP:0000496	Abnormality of eye movement	0	YY1 CL E G H	7528	12856	OMIM:617557	Gabriele-De vries syndrome			7
HP:0000496	HP:0000496	Abnormality of eye movement	0	YY1 CL E G H	7528	12856	ORPHA:506358	Gabriele-de Vries syndrome			7
HP:0000496	HP:0000496	Abnormality of eye movement	0	ZBTB20 CL E G H	26137	13503	OMIM:259050	Primrose syndrome			17
HP:0000496	HP:0000496	Abnormality of eye movement	0	ZC4H2 CL E G H	55906	24931	ORPHA:3454	Intellectual disability-developmental delay-contractures syndrome	HP:0040281 - Very frequent		19
HP:0000496	HP:0000496	Abnormality of eye movement	0	ZC4H2 CL E G H	55906	24931	OMIM:314580	Wieacker-Wolff syndrome			19
HP:0000496	HP:0000496	Abnormality of eye movement	0	ZC4H2 CL E G H	55906	24931	OMIM:301041	WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED; WRWFFR			19
HP:0000496	HP:0000496	Abnormality of eye movement	0	ZDHHC9 CL E G H	51114	18475	OMIM:300799	Mental retardation, x-linked syndromic, Raymond type			10
HP:0000496	HP:0000496	Abnormality of eye movement	0	ZEB1 CL E G H	6935	11642	ORPHA:98973	Posterior polymorphous corneal dystrophy			8
HP:0000496	HP:0000496	Abnormality of eye movement	0	ZEB2 CL E G H	9839	14881	OMIM:235730	Mowat-Wilson syndrome			362
HP:0000496	HP:0000496	Abnormality of eye movement	0	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation			362
HP:0000496	HP:0000496	Abnormality of eye movement	0	ZEB2 CL E G H	9839	14881	ORPHA:261537	Mowat-Wilson syndrome due to monosomy 2q22			362
HP:0000496	HP:0000496	Abnormality of eye movement	0	ZFHX4 CL E G H	79776	30939	ORPHA:91411	Congenital ptosis
HP:0000496	HP:0000496	Abnormality of eye movement	0	ZFYVE26 CL E G H	23503	20761	ORPHA:100996	Autosomal recessive spastic paraplegia type 15	HP:0040283 - Occasional		189
HP:0000496	HP:0000496	Abnormality of eye movement	0	ZFYVE26 CL E G H	23503	20761	OMIM:270700	Spastic paraplegia 15, autosomal recessive			189
HP:0000496	HP:0000496	Abnormality of eye movement	0	ZIC1 CL E G H	7545	12872	OMIM:616602	Craniosynostosis 6			5
HP:0000496	HP:0000496	Abnormality of eye movement	0	ZIC1 CL E G H	7545	12872	OMIM:618736	STRUCTURAL BRAIN ANOMALIES WITH IMPAIRED INTELLECTUAL DEVELOPMENT AND CRANIOSYNOSTOSIS; BAIDCS			5
HP:0000496	HP:0000496	Abnormality of eye movement	0	ZIC2 CL E G H	7546	12873	ORPHA:280200	Microform holoprosencephaly			34
HP:0000496	HP:0000496	Abnormality of eye movement	0	ZMIZ1 CL E G H	57178	16493	OMIM:618659	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES; NEDDFSA
HP:0000496	HP:0000496	Abnormality of eye movement	0	ZNF292 CL E G H	23036	18410	OMIM:619188	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 64; MRD64			3
HP:0000496	HP:0000496	Abnormality of eye movement	0	ZNF407 CL E G H	55628	19904	OMIM:619557	SHORT STATURE, IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, HYPOTONIA, AND OCULAR ANOMALIES; SIMHA			68
HP:0000496	HP:0000496	Abnormality of eye movement	0	ZNF408 CL E G H	79797	20041	ORPHA:791	Retinitis pigmentosa			14
HP:0000496	HP:0000496	Abnormality of eye movement	0	ZNF423 CL E G H	23090	16762	ORPHA:2318	Joubert syndrome with oculorenal defect			49
HP:0000496	HP:0000496	Abnormality of eye movement	0	ZNF513 CL E G H	130557	26498	ORPHA:791	Retinitis pigmentosa			27
HP:0000496	HP:0000496	Abnormality of eye movement	0	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0000496	HP:0000496	Abnormality of eye movement	0	ZNHIT3 CL E G H	9326	12309	ORPHA:2836	PEHO syndrome	HP:0040281 - Very frequent		1
HP:0000496	HP:0000496	Abnormality of eye movement	0	ZSWIM6 CL E G H	57688	29316	OMIM:617865	Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features			5
HP:0000496	HP:0025518	Visual gaze preference	1	CL E G H
HP:0000496	HP:0500073	Abnormal ocular alignment	1	CL E G H
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	AARS1 CL E G H	16	20	OMIM:616339	Epileptic encephalopathy, early infantile, 29
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	AARS1 CL E G H	16	20	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040284 - Very rare
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	AARS1 CL E G H	16	20	OMIM:619691	TRICHOTHIODYSTROPHY 8, NONPHOTOSENSITIVE; TTD8
HP:0000496	HP:0000617	Abnormality of ocular smooth pursuit	1	AARS1 CL E G H	16	20	OMIM:619691	TRICHOTHIODYSTROPHY 8, NONPHOTOSENSITIVE; TTD8
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	AARS2 CL E G H	57505	21022	OMIM:615889	Leukoencephalopathy, progressive, with ovarian failure			143
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	AASS CL E G H	10157	17366	ORPHA:2203	Hyperlysinemia			15
HP:0000496	HP:0000597	Ophthalmoparesis	1	ABCA4 CL E G H	24	34	ORPHA:791	Retinitis pigmentosa			826
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	ABCA4 CL E G H	24	34	ORPHA:791	Retinitis pigmentosa			826
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	ABCA4 CL E G H	24	34	ORPHA:827	Stargardt disease			826
HP:0000496	HP:0000657	Oculomotor apraxia	1	ABCA7 CL E G H	10347	37	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease	HP:0040283 - Occasional		3
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	ABCB7 CL E G H	22	48	ORPHA:2802	X-linked sideroblastic anemia and spinocerebellar ataxia			35
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	ABCB7 CL E G H	22	48	ORPHA:2802	X-linked sideroblastic anemia and spinocerebellar ataxia			35
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	ABCC8 CL E G H	6833	59	OMIM:240800	Hypoglycemia of infancy, leucine-sensitive			245
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	ABCC9 CL E G H	10060	60	OMIM:619719	INTELLECTUAL DISABILITY AND MYOPATHY SYNDROME; IDMYS			254
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	ABCC9 CL E G H	10060	60	OMIM:619719	INTELLECTUAL DISABILITY AND MYOPATHY SYNDROME; IDMYS			254
HP:0000496	HP:0000657	Oculomotor apraxia	1	ABCD1 CL E G H	215	61	ORPHA:139396	X-linked cerebral adrenoleukodystrophy	HP:0040283 - Occasional		135
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	ABHD12 CL E G H	26090	15868	OMIM:612674	Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract			50
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	ABHD5 CL E G H	51099	21396	OMIM:275630	Chanarin-Dorfman syndrome			90
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	ABHD5 CL E G H	51099	21396	OMIM:275630	Chanarin-Dorfman syndrome			90
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	ABHD5 CL E G H	51099	21396	ORPHA:98907	Neutral lipid storage disease with ichthyosis			90
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	ABHD5 CL E G H	51099	21396	ORPHA:98907	Neutral lipid storage disease with ichthyosis			90
HP:0000496	HP:0000597	Ophthalmoparesis	1	ACADS CL E G H	35	90	OMIM:201470	Acyl-Coa dehydrogenase, short-chain, deficiency of			90
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	ACADSB CL E G H	36	91	OMIM:610006	2-Methylbutyryl-Coa dehydrogenase deficiency			111
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	ACBD5 CL E G H	91452	23338	OMIM:618863	RETINAL DYSTROPHY WITH LEUKODYSTROPHY; RDLKD			1
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	ACKR3 CL E G H	57007	23692	OMIM:619215	OCULOMOTOR-ABDUCENS SYNKINESIS; OCABSN
HP:0000496	HP:0033851	Oculomotor synkinesis	1	ACKR3 CL E G H	57007	23692	OMIM:619215	OCULOMOTOR-ABDUCENS SYNKINESIS; OCABSN
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	ACO2 CL E G H	50	118	OMIM:614559	INFANTILE CEREBELLAR-RETINAL DEGENERATION; ICRD			60
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	ACO2 CL E G H	50	118	OMIM:614559	INFANTILE CEREBELLAR-RETINAL DEGENERATION; ICRD			60
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	ACOX1 CL E G H	51	119	ORPHA:2971	Peroxisomal acyl-CoA oxidase deficiency			120
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	ACOX1 CL E G H	51	119	OMIM:264470	Peroxisomal acyl-coa oxidase deficiency			120
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	ACOX1 CL E G H	51	119	ORPHA:2971	Peroxisomal acyl-CoA oxidase deficiency			120
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	ACOX1 CL E G H	51	119	OMIM:264470	Peroxisomal acyl-coa oxidase deficiency			120
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	ACOX2 CL E G H	8309	120	OMIM:617308	Bile acid synthesis defect, congenital, 6			2
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	ACSL4 CL E G H	2182	3571	ORPHA:86818	Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome			19
HP:0000496	HP:0000597	Ophthalmoparesis	1	ACTA1 CL E G H	58	129	ORPHA:2020	Congenital fiber-type disproportion myopathy			96
HP:0000496	HP:0000597	Ophthalmoparesis	1	ACTA1 CL E G H	58	129	ORPHA:171433	Intermediate nemaline myopathy			96
HP:0000496	HP:0000597	Ophthalmoparesis	1	ACTA1 CL E G H	58	129	OMIM:255310	Myopathy, congenital, with fiber-type disproportion			96
HP:0000496	HP:0000597	Ophthalmoparesis	1	ACTA1 CL E G H	58	129	ORPHA:171430	Severe congenital nemaline myopathy			96
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	ACTL6B CL E G H	51412	160	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040284 - Very rare		2
HP:0000496	HP:0000597	Ophthalmoparesis	1	ACTN2 CL E G H	88	164	OMIM:618654	MYOPATHY, CONGENITAL, WITH STRUCTURED CORES AND Z-LINE ABNORMALITIES; MYOCOZ			307
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	ADA2 CL E G H	51816	1839	ORPHA:124	Blackfan-Diamond anemia			22
HP:0000496	HP:0000597	Ophthalmoparesis	1	ADA2 CL E G H	51816	1839	OMIM:615688	Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome			22
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	ADAMTSL4 CL E G H	54507	19706	ORPHA:1885	Isolated ectopia lentis			84
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	ADAR CL E G H	103	225	ORPHA:51	Aicardi-Goutières syndrome			116
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	ADAR CL E G H	103	225	OMIM:615010	Aicardi-Goutieres syndrome 6			116
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	ADAR CL E G H	103	225	ORPHA:225154	Familial infantile bilateral striatal necrosis			116
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	ADARB1 CL E G H	104	226	OMIM:618862	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, MICROCEPHALY, AND SEIZURES; NEDHYMS			1
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	ADAT3 CL E G H	113179	25151	ORPHA:363528	Intellectual disability-strabismus syndrome			9
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	ADAT3 CL E G H	113179	25151	OMIM:615286	Mental retardation, autosomal recessive 36			9
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	ADD3 CL E G H	120	245	OMIM:617008	Cerebral palsy, spastic quadriplegic, 3			3
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	ADD3 CL E G H	120	245	OMIM:617008	Cerebral palsy, spastic quadriplegic, 3			3
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	ADGRG1 CL E G H	9289	4512	ORPHA:101070	Bilateral frontoparietal polymicrogyria			88
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	ADGRG1 CL E G H	9289	4512	ORPHA:98889	Bilateral perisylvian polymicrogyria			88
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	ADGRG1 CL E G H	9289	4512	OMIM:606854	Polymicrogyria, bilateral frontoparietal			88
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	ADGRG1 CL E G H	9289	4512	OMIM:606854	Polymicrogyria, bilateral frontoparietal			88
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	ADGRV1 CL E G H	84059	17416	ORPHA:231178	Usher syndrome type 2			530
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	ADNP CL E G H	23394	15766	ORPHA:404448	ADNP syndrome			47
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	ADNP CL E G H	23394	15766	OMIM:615873	Helsmoortel-van der Aa syndrome			47
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	ADORA2A CL E G H	135	263	ORPHA:363549	Acute encephalopathy with biphasic seizures and late reduced diffusion			1
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	ADPRS CL E G H	54936	21304	OMIM:618170	Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures
HP:0000496	HP:0000597	Ophthalmoparesis	1	ADPRS CL E G H	54936	21304	OMIM:618170	Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	ADPRS CL E G H	54936	21304	OMIM:618170	Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	ADSL CL E G H	158	291	OMIM:103050	Adenylosuccinase deficiency			118
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	ADSL CL E G H	158	291	OMIM:103050	Adenylosuccinase deficiency			118
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	AEBP1 CL E G H	165	303	ORPHA:536532	Classical-like Ehlers-Danlos syndrome type 2
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	AFF3 CL E G H	3899	6473	OMIM:619297	KINSSHIP SYNDROME; KINS			1
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	AFF3 CL E G H	3899	6473	OMIM:619297	KINSSHIP SYNDROME; KINS			1
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	AFF4 CL E G H	27125	17869	ORPHA:444077	Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome			6
HP:0000496	HP:0000657	Oculomotor apraxia	1	AFG3L2 CL E G H	10939	315	ORPHA:313772	Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome	HP:0040282 - Frequent		86
HP:0000496	HP:0000657	Oculomotor apraxia	1	AFG3L2 CL E G H	10939	315	OMIM:614487	Spastic ataxia 5, autosomal recessive	.		86
HP:0000496	HP:0000570	Abnormal saccadic eye movements	1	AFG3L2 CL E G H	10939	315	OMIM:610246	Spinocerebellar ataxia 28			86
HP:0000496	HP:0000597	Ophthalmoparesis	1	AFG3L2 CL E G H	10939	315	OMIM:610246	Spinocerebellar ataxia 28	.		86
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	AFG3L2 CL E G H	10939	315	OMIM:610246	Spinocerebellar ataxia 28			86
HP:0000496	HP:0000570	Abnormal saccadic eye movements	1	AFG3L2 CL E G H	10939	315	ORPHA:101109	Spinocerebellar ataxia type 28			86
HP:0000496	HP:0000597	Ophthalmoparesis	1	AFG3L2 CL E G H	10939	315	ORPHA:101109	Spinocerebellar ataxia type 28	HP:0040282 - Frequent		86
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	AFG3L2 CL E G H	10939	315	ORPHA:101109	Spinocerebellar ataxia type 28			86
HP:0000496	HP:0000597	Ophthalmoparesis	1	AGBL5 CL E G H	60509	26147	ORPHA:791	Retinitis pigmentosa			2
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	AGBL5 CL E G H	60509	26147	ORPHA:791	Retinitis pigmentosa			2
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	AGK CL E G H	55750	21869	ORPHA:1369	Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome			82
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	AGK CL E G H	55750	21869	ORPHA:1369	Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome			82
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	AGK CL E G H	55750	21869	OMIM:212350	Sengers syndrome			82
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	AGK CL E G H	55750	21869	OMIM:212350	Sengers syndrome			82
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	AGO2 CL E G H	27161	3263	OMIM:619149	LESSEL-KREIENKAMP SYNDROME; LESKRES
HP:0000496	HP:0000597	Ophthalmoparesis	1	AGRN CL E G H	375790	329	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent		127
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	AGRN CL E G H	375790	329	ORPHA:98914	Presynaptic congenital myasthenic syndromes			127
HP:0000496	HP:0000597	Ophthalmoparesis	1	AGRN CL E G H	375790	329	ORPHA:98914	Presynaptic congenital myasthenic syndromes			127
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	AGRN CL E G H	375790	329	ORPHA:98914	Presynaptic congenital myasthenic syndromes			127
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	AGTPBP1 CL E G H	23287	17258	OMIM:618276	Neurodegeneration, childhood-onset, with cerebellar atrophy			1
HP:0000496	HP:0000570	Abnormal saccadic eye movements	1	AGTPBP1 CL E G H	23287	17258	OMIM:618276	Neurodegeneration, childhood-onset, with cerebellar atrophy			1
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	AGTPBP1 CL E G H	23287	17258	OMIM:618276	Neurodegeneration, childhood-onset, with cerebellar atrophy			1
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	AGTPBP1 CL E G H	23287	17258	ORPHA:2254	Pontocerebellar hypoplasia type 1			1
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	AGTPBP1 CL E G H	23287	17258	ORPHA:2254	Pontocerebellar hypoplasia type 1			1
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	AHCY CL E G H	191	343	ORPHA:88618	S-adenosylhomocysteine hydrolase deficiency			31
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	AHDC1 CL E G H	27245	25230	ORPHA:412069	AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome			36
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	AHDC1 CL E G H	27245	25230	ORPHA:412069	AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome			36
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	AHDC1 CL E G H	27245	25230	OMIM:615829	Xia-Gibbs syndrome			36
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	AHI1 CL E G H	54806	21575	ORPHA:475	Joubert syndrome			175
HP:0000496	HP:0000657	Oculomotor apraxia	1	AHI1 CL E G H	54806	21575	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent		175
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	AHI1 CL E G H	54806	21575	ORPHA:475	Joubert syndrome			175
HP:0000496	HP:0000657	Oculomotor apraxia	1	AHI1 CL E G H	54806	21575	OMIM:608629	Joubert syndrome 3	.		175
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	AHI1 CL E G H	54806	21575	OMIM:608629	Joubert syndrome 3			175
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	AHI1 CL E G H	54806	21575	ORPHA:220493	Joubert syndrome with ocular defect			175
HP:0000496	HP:0000657	Oculomotor apraxia	1	AHI1 CL E G H	54806	21575	ORPHA:220493	Joubert syndrome with ocular defect	HP:0040281 - Very frequent		175
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	AHI1 CL E G H	54806	21575	ORPHA:220493	Joubert syndrome with ocular defect			175
HP:0000496	HP:0000597	Ophthalmoparesis	1	AHI1 CL E G H	54806	21575	ORPHA:791	Retinitis pigmentosa			175
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	AHI1 CL E G H	54806	21575	ORPHA:791	Retinitis pigmentosa			175
HP:0000496	HP:0000597	Ophthalmoparesis	1	AHR CL E G H	196	348	ORPHA:791	Retinitis pigmentosa			2
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	AHR CL E G H	196	348	ORPHA:791	Retinitis pigmentosa			2
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	AIFM1 CL E G H	9131	8768	ORPHA:83629	Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome			60
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	AIFM1 CL E G H	9131	8768	OMIM:300232	Spondyloepimetaphyseal dysplasia, X-linked, with mental deterioration			60
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	AIMP1 CL E G H	9255	10648	OMIM:260600	Leukodystrophy, hypomyelinating, 3			4
HP:0000496	HP:0000597	Ophthalmoparesis	1	AIP CL E G H	9049	358	ORPHA:2965	Prolactinoma			95
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	AIPL1 CL E G H	23746	359	ORPHA:65	Leber congenital amaurosis			114
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	AIPL1 CL E G H	23746	359	OMIM:604393	Leber congenital amaurosis 4			114
HP:0000496	HP:0000597	Ophthalmoparesis	1	AK9 CL E G H	221264	33814	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent		1
HP:0000496	HP:0000597	Ophthalmoparesis	1	AKT1 CL E G H	207	391	ORPHA:2495	Meningioma			54
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	AKT1 CL E G H	207	391	ORPHA:744	Proteus syndrome			54
HP:0000496	HP:0000597	Ophthalmoparesis	1	AKT3 CL E G H	10000	393	ORPHA:99802	Hemimegalencephaly			19
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	ALDH18A1 CL E G H	5832	9722	ORPHA:90348	Autosomal dominant cutis laxa			89
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	ALDH18A1 CL E G H	5832	9722	ORPHA:447753	Autosomal dominant spastic paraplegia type 9A			89
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	ALDH18A1 CL E G H	5832	9722	OMIM:616603	Cutis laxa, autosomal dominant 3			89
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	ALDH18A1 CL E G H	5832	9722	OMIM:219150	Cutis laxa, autosomal recessive, type IIIA			89
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	ALDH18A1 CL E G H	5832	9722	OMIM:601162	Spastic paraplegia 9A, autosomal dominant			89
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	ALDH1A3 CL E G H	220	409	ORPHA:35612	Nanophthalmos			10
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	ALDH3A2 CL E G H	224	403	OMIM:270200	Sjogren-Larsson syndrome			87
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	ALDH4A1 CL E G H	8659	406	ORPHA:79101	Hyperprolinemia type 2			74
HP:0000496	HP:0000597	Ophthalmoparesis	1	ALDH4A1 CL E G H	8659	406	ORPHA:79101	Hyperprolinemia type 2	HP:0040283 - Occasional		74
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	ALDH7A1 CL E G H	501	877	OMIM:266100	Epilepsy, pyridoxine-dependent			227
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	ALG1 CL E G H	56052	18294	ORPHA:79327	ALG1-CDG			58
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	ALG1 CL E G H	56052	18294	ORPHA:79327	ALG1-CDG			58
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	ALG11 CL E G H	440138	32456	ORPHA:280071	ALG11-CDG			41
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	ALG11 CL E G H	440138	32456	OMIM:613661	Congenital disorder of glycosylation, type Ip			41
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	ALG12 CL E G H	79087	19358	ORPHA:79324	ALG12-CDG			68
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	ALG13 CL E G H	79868	30881	ORPHA:324422	ALG13-CDG			96
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	ALG13 CL E G H	79868	30881	OMIM:300884	Epileptic encephalopathy, early infantile, 36			96
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	ALG2 CL E G H	85365	23159	ORPHA:79326	ALG2-CDG			46
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	ALG2 CL E G H	85365	23159	OMIM:607906	Congenital disorder of glycosylation, type Ii			46
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	ALG2 CL E G H	85365	23159	OMIM:607906	Congenital disorder of glycosylation, type Ii			46
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	ALG3 CL E G H	10195	23056	ORPHA:79321	ALG3-CDG			37
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	ALG3 CL E G H	10195	23056	OMIM:601110	Congenital disorder of glycosylation, type Id			37
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	ALG6 CL E G H	29929	23157	ORPHA:79320	ALG6-CDG			66
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	ALG6 CL E G H	29929	23157	OMIM:603147	Congenital disorder of glycosylation, type Ic			66
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	ALG8 CL E G H	79053	23161	ORPHA:79325	ALG8-CDG			46
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	ALG9 CL E G H	79796	15672	ORPHA:79328	ALG9-CDG			93
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	ALG9 CL E G H	79796	15672	OMIM:608776	Congenital disorder of glycosylation, type Il			93
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome			404
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	ALMS1 CL E G H	7840	428	OMIM:203800	Alstrom syndrome			404
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	ALS2 CL E G H	57679	443	OMIM:205100	Amyotrophic lateral sclerosis 2, juvenile			114
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	ALS2 CL E G H	57679	443	ORPHA:300605	Juvenile amyotrophic lateral sclerosis			114
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	ALS2 CL E G H	57679	443	ORPHA:300605	Juvenile amyotrophic lateral sclerosis			114
HP:0000496	HP:0000617	Abnormality of ocular smooth pursuit	1	ALS2 CL E G H	57679	443	OMIM:606353	Primary lateral sclerosis, juvenile			114
HP:0000496	HP:0000570	Abnormal saccadic eye movements	1	ALS2 CL E G H	57679	443	OMIM:607225	Spastic paralysis, infantile-onset ascending			114
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	ALX3 CL E G H	257	449	ORPHA:391474	Frontorhiny			9
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	ALX4 CL E G H	60529	450	OMIM:613451	Frontonasal dysplasia 2			132
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	ALX4 CL E G H	60529	450	OMIM:613451	Frontonasal dysplasia 2			132
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	ALX4 CL E G H	60529	450	ORPHA:228390	Frontonasal dysplasia-alopecia-genital anomalies syndrome			132
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	ALX4 CL E G H	60529	450	ORPHA:228390	Frontonasal dysplasia-alopecia-genital anomalies syndrome			132
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	ALX4 CL E G H	60529	450	ORPHA:52022	Potocki-Shaffer syndrome			132
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	ALX4 CL E G H	60529	450	ORPHA:52022	Potocki-Shaffer syndrome			132
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	AMMECR1 CL E G H	9949	467	ORPHA:86818	Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome			2
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	AMMECR1 CL E G H	9949	467	OMIM:300990	Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis			2
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	ANAPC7 CL E G H	51434	17380	OMIM:619699	FERGUSON-BONNI NEURODEVELOPMENTAL SYNDROME; FERBON
HP:0000496	HP:0000597	Ophthalmoparesis	1	ANGPTL6 CL E G H	83854	23140	ORPHA:231160	Familial cerebral saccular aneurysm
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	ANK1 CL E G H	286	492	ORPHA:251066	8p11.2 deletion syndrome			150
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	ANKRD11 CL E G H	29123	21316	ORPHA:261250	16q24.3 microdeletion syndrome			102
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	ANKRD11 CL E G H	29123	21316	ORPHA:261250	16q24.3 microdeletion syndrome			102
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	ANKRD11 CL E G H	29123	21316	ORPHA:2332	KBG syndrome			102
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	ANKRD17 CL E G H	26057	23575	OMIM:619504	CHOPRA-AMIEL-GORDON SYNDROME; CAGS			2
HP:0000496	HP:0000570	Abnormal saccadic eye movements	1	ANO10 CL E G H	55129	25519	ORPHA:284289	Adult-onset autosomal recessive cerebellar ataxia			64
HP:0000496	HP:0000617	Abnormality of ocular smooth pursuit	1	ANO10 CL E G H	55129	25519	ORPHA:284289	Adult-onset autosomal recessive cerebellar ataxia			64
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	ANO10 CL E G H	55129	25519	ORPHA:284289	Adult-onset autosomal recessive cerebellar ataxia			64
HP:0000496	HP:0000570	Abnormal saccadic eye movements	1	ANO10 CL E G H	55129	25519	OMIM:613728	Spinocerebellar ataxia, autosomal recessive 10			64
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	ANO10 CL E G H	55129	25519	OMIM:613728	Spinocerebellar ataxia, autosomal recessive 10			64
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	ANOS1 CL E G H	3730	6211	ORPHA:478	Kallmann syndrome			65
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	ANTXR1 CL E G H	84168	21014	OMIM:230740	Gapo syndrome			8
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	ANTXR1 CL E G H	84168	21014	ORPHA:2067	GAPO syndrome			8
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	ANTXR1 CL E G H	84168	21014	OMIM:230740	Gapo syndrome			8
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	AP1G1 CL E G H	164	555	OMIM:619467	USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL DOMINANT; USRISD
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	AP1S2 CL E G H	8905	560	ORPHA:1568	X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome			13
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	AP3B1 CL E G H	8546	566	OMIM:608233	Hermansky-Pudlak syndrome 2			83
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	AP3B1 CL E G H	8546	566	OMIM:608233	Hermansky-Pudlak syndrome 2			83
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	AP3B2 CL E G H	8120	567	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040284 - Very rare		7
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	AP3D1 CL E G H	8943	568	OMIM:617050	HERMANSKY-PUDLAK SYNDROME 10; HPS10			1
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	AP3D1 CL E G H	8943	568	ORPHA:1000	Ocular albinism with late-onset sensorineural deafness			1
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	AP3D1 CL E G H	8943	568	ORPHA:1000	Ocular albinism with late-onset sensorineural deafness			1
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	AP3D1 CL E G H	8943	568	ORPHA:54	X-linked recessive ocular albinism			1
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	AP3D1 CL E G H	8943	568	ORPHA:54	X-linked recessive ocular albinism			1
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	AP4B1 CL E G H	10717	572	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia			49
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	AP4E1 CL E G H	23431	573	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia			48
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	AP4E1 CL E G H	23431	573	OMIM:613744	Spastic paraplegia 51, autosomal recessive			48
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	AP4M1 CL E G H	9179	574	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia			41
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	AP4M1 CL E G H	9179	574	OMIM:612936	Spastic paraplegia 50, autosomal recessive			41
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	AP4S1 CL E G H	11154	575	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia			18
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	APC CL E G H	324	583	ORPHA:3258	Cenani-Lenz syndrome			3179
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	APC CL E G H	324	583	ORPHA:99818	Turcot syndrome with polyposis			3179
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome			1
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome			1
HP:0000496	HP:0000657	Oculomotor apraxia	1	APP CL E G H	351	620	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease	HP:0040283 - Occasional		74
HP:0000496	HP:0000570	Abnormal saccadic eye movements	1	APTX CL E G H	54840	15984	OMIM:208920	Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia			61
HP:0000496	HP:0000597	Ophthalmoparesis	1	APTX CL E G H	54840	15984	OMIM:208920	Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia			61
HP:0000496	HP:0000657	Oculomotor apraxia	1	APTX CL E G H	54840	15984	OMIM:208920	Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia			61
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	APTX CL E G H	54840	15984	OMIM:208920	Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia			61
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	ARCN1 CL E G H	372	649	OMIM:617164	Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay			3
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	ARHGAP31 CL E G H	57514	29216	ORPHA:974	Adams-Oliver syndrome			147
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	ARHGAP31 CL E G H	57514	29216	OMIM:100300	Adams-Oliver syndrome 1			147
HP:0000496	HP:0000597	Ophthalmoparesis	1	ARHGEF18 CL E G H	23370	17090	ORPHA:791	Retinitis pigmentosa			6
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	ARHGEF18 CL E G H	23370	17090	ORPHA:791	Retinitis pigmentosa			6
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	ARHGEF2 CL E G H	9181	682	OMIM:617523	Neurodevelopmental disorder with midbrain and hindbrain malformations			1
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	ARHGEF2 CL E G H	9181	682	OMIM:617523	Neurodevelopmental disorder with midbrain and hindbrain malformations			1
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	ARID1A CL E G H	8289	11110	ORPHA:1465	Coffin-Siris syndrome			88
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	ARID1A CL E G H	8289	11110	OMIM:614607	Coffin-Siris syndrome 2			88
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	ARID1B CL E G H	57492	18040	ORPHA:1465	Coffin-Siris syndrome			219
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1			219
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1			219
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	ARID2 CL E G H	196528	18037	ORPHA:1465	Coffin-Siris syndrome			25
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	ARL13B CL E G H	200894	25419	ORPHA:475	Joubert syndrome			62
HP:0000496	HP:0000657	Oculomotor apraxia	1	ARL13B CL E G H	200894	25419	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent		62
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	ARL13B CL E G H	200894	25419	ORPHA:475	Joubert syndrome			62
HP:0000496	HP:0000657	Oculomotor apraxia	1	ARL13B CL E G H	200894	25419	OMIM:612291	JOUBERT SYNDROME 8; JBTS8			62
HP:0000496	HP:0000597	Ophthalmoparesis	1	ARL2BP CL E G H	23568	17146	ORPHA:791	Retinitis pigmentosa			3
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	ARL2BP CL E G H	23568	17146	ORPHA:791	Retinitis pigmentosa			3
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	ARL3 CL E G H	403	694	ORPHA:475	Joubert syndrome			1
HP:0000496	HP:0000657	Oculomotor apraxia	1	ARL3 CL E G H	403	694	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent		1
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	ARL3 CL E G H	403	694	ORPHA:475	Joubert syndrome			1
HP:0000496	HP:0000657	Oculomotor apraxia	1	ARL3 CL E G H	403	694	OMIM:618161	JOUBERT SYNDROME 35; JBTS35			1
HP:0000496	HP:0000597	Ophthalmoparesis	1	ARL3 CL E G H	403	694	ORPHA:791	Retinitis pigmentosa			1
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	ARL3 CL E G H	403	694	ORPHA:791	Retinitis pigmentosa			1
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	ARL6 CL E G H	84100	13210	ORPHA:110	Bardet-Biedl syndrome			29
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	ARL6 CL E G H	84100	13210	OMIM:209900	Bardet-Biedl syndrome 1			29
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	ARL6 CL E G H	84100	13210	OMIM:209900	Bardet-Biedl syndrome 1			29
HP:0000496	HP:0000597	Ophthalmoparesis	1	ARL6 CL E G H	84100	13210	ORPHA:791	Retinitis pigmentosa			29
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	ARL6 CL E G H	84100	13210	ORPHA:791	Retinitis pigmentosa			29
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	ARMC9 CL E G H	80210	20730	ORPHA:475	Joubert syndrome
HP:0000496	HP:0000657	Oculomotor apraxia	1	ARMC9 CL E G H	80210	20730	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	ARMC9 CL E G H	80210	20730	ORPHA:475	Joubert syndrome
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	ARNT2 CL E G H	9915	16876	ORPHA:3157	Septo-optic dysplasia spectrum
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	ARNT2 CL E G H	9915	16876	ORPHA:3157	Septo-optic dysplasia spectrum
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	ARPC4 CL E G H	10093	707	OMIM:620141
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	ARV1 CL E G H	64801	29561	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040284 - Very rare		3
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome			1
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	ARX CL E G H	170302	18060	ORPHA:2508	Corpus callosum agenesis-abnormal genitalia syndrome			166
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	ARX CL E G H	170302	18060	ORPHA:2508	Corpus callosum agenesis-abnormal genitalia syndrome			166
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	ARX CL E G H	170302	18060	OMIM:300004	Corpus callosum, agenesis of, with abnormal genitalia			166
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	ARX CL E G H	170302	18060	OMIM:300004	Corpus callosum, agenesis of, with abnormal genitalia			166
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	ARX CL E G H	170302	18060	ORPHA:1934	Early infantile epileptic encephalopathy			166
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	ARX CL E G H	170302	18060	OMIM:300215	Lissencephaly, X-linked, 2			166
HP:0000496	HP:0025404	Abnormal visual fixation	1	ASAH1 CL E G H	427	735	ORPHA:333	Farber disease			78
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	ASAH1 CL E G H	427	735	ORPHA:333	Farber disease			78
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	ASCL1 CL E G H	429	738	ORPHA:99803	Haddad syndrome			15
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	ASH1L CL E G H	55870	19088	OMIM:617796	Mental retardation, autosomal dominant 52			1
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	ASH1L CL E G H	55870	19088	OMIM:617796	Mental retardation, autosomal dominant 52			1
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	ASPA CL E G H	443	756	OMIM:271900	Canavan disease			48
HP:0000496	HP:0025404	Abnormal visual fixation	1	ASPA CL E G H	443	756	ORPHA:314911	Severe Canavan disease			48
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	ASXL1 CL E G H	171023	18318	OMIM:605039	Bohring-Opitz syndrome			145
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	ASXL3 CL E G H	80816	29357	ORPHA:352577	Bainbridge-Ropers syndrome			49
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	ASXL3 CL E G H	80816	29357	OMIM:615485	BAINBRIDGE-ROPERS SYNDROME; BRPS			49
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	ATAD3A CL E G H	55210	25567	OMIM:617183	Harel-Yoon syndrome			5
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	ATAD3A CL E G H	55210	25567	OMIM:617183	Harel-Yoon syndrome			5
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	ATAD3A CL E G H	55210	25567	ORPHA:496790	Ocular anomalies-axonal neuropathy-developmental delay syndrome			5
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	ATAD3A CL E G H	55210	25567	ORPHA:496790	Ocular anomalies-axonal neuropathy-developmental delay syndrome			5
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	ATCAY CL E G H	85300	779	OMIM:601238	Cerebellar ataxia, Cayman type			72
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	ATCAY CL E G H	85300	779	ORPHA:94122	Cerebellar ataxia, Cayman type			72
HP:0000496	HP:0025404	Abnormal visual fixation	1	ATF6 CL E G H	22926	791	ORPHA:49382	Achromatopsia			10
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	ATF6 CL E G H	22926	791	ORPHA:49382	Achromatopsia			10
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	ATF6 CL E G H	22926	791	OMIM:616517	ACHROMATOPSIA 7; ACHM7			10
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	ATG5 CL E G H	9474	589	OMIM:617584	Spinocerebellar ataxia, autosomal recessive 25			1
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	ATG7 CL E G H	10533	16935	OMIM:619422	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 31; SCAR31			1
HP:0000496	HP:0000597	Ophthalmoparesis	1	ATG7 CL E G H	10533	16935	OMIM:619422	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 31; SCAR31			1
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	ATM CL E G H	472	795	ORPHA:100	Ataxia-telangiectasia			3267
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	ATM CL E G H	472	795	OMIM:208900	ATAXIA-TELANGIECTASIA			3267
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	ATM CL E G H	472	795	ORPHA:100	Ataxia-telangiectasia			3267
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	ATM CL E G H	472	795	OMIM:208900	ATAXIA-TELANGIECTASIA			3267
HP:0000496	HP:0000597	Ophthalmoparesis	1	ATN1 CL E G H	1822	3033	ORPHA:101	Dentatorubral pallidoluysian atrophy	HP:0040282 - Frequent		16
HP:0000496	HP:0000617	Abnormality of ocular smooth pursuit	1	ATN1 CL E G H	1822	3033	ORPHA:101	Dentatorubral pallidoluysian atrophy			16
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	ATN1 CL E G H	1822	3033	ORPHA:101	Dentatorubral pallidoluysian atrophy			16
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	ATOH7 CL E G H	220202	13907	ORPHA:91495	Persistent hyperplastic primary vitreous			4
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	ATOH7 CL E G H	220202	13907	OMIM:221900	Persistent hyperplastic primary vitreous, autosomal recessive			4
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	ATOH7 CL E G H	220202	13907	OMIM:221900	Persistent hyperplastic primary vitreous, autosomal recessive			4
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	ATP13A2 CL E G H	23400	30213	ORPHA:314632	ATP13A2-related juvenile neuronal ceroid lipofuscinosis			100
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	ATP13A2 CL E G H	23400	30213	ORPHA:513436	Autosomal recessive spastic paraplegia type 78			100
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	ATP13A2 CL E G H	23400	30213	ORPHA:513436	Autosomal recessive spastic paraplegia type 78			100
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	ATP13A2 CL E G H	23400	30213	ORPHA:306674	Kufor-Rakeb syndrome			100
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	ATP13A2 CL E G H	23400	30213	OMIM:606693	Kufor-Rakeb syndrome			100
HP:0000496	HP:0000570	Abnormal saccadic eye movements	1	ATP13A2 CL E G H	23400	30213	OMIM:606693	Kufor-Rakeb syndrome			100
HP:0000496	HP:0000570	Abnormal saccadic eye movements	1	ATP13A2 CL E G H	23400	30213	ORPHA:306674	Kufor-Rakeb syndrome			100
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	ATP13A2 CL E G H	23400	30213	ORPHA:306674	Kufor-Rakeb syndrome			100
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	ATP13A2 CL E G H	23400	30213	OMIM:617225	SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE; SPG78			100
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	ATP13A2 CL E G H	23400	30213	OMIM:617225	SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE; SPG78			100
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	ATP1A2 CL E G H	477	800	ORPHA:2131	Alternating hemiplegia of childhood			239
HP:0000496	HP:0000570	Abnormal saccadic eye movements	1	ATP1A2 CL E G H	477	800	ORPHA:2131	Alternating hemiplegia of childhood			239
HP:0000496	HP:0000657	Oculomotor apraxia	1	ATP1A2 CL E G H	477	800	ORPHA:2131	Alternating hemiplegia of childhood	HP:0040283 - Occasional		239
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	ATP1A2 CL E G H	477	800	ORPHA:2131	Alternating hemiplegia of childhood	HP:0040282 - Frequent		239
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	ATP1A2 CL E G H	477	800	OMIM:104290	Alternating hemiplegia of childhood 1			239
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	ATP1A2 CL E G H	477	800	ORPHA:569	Familial or sporadic hemiplegic migraine			239
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	ATP1A2 CL E G H	477	800	OMIM:602481	Migraine, familial hemiplegic, 2			239
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	ATP1A2 CL E G H	477	800	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040284 - Very rare		239
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	ATP1A3 CL E G H	478	801	ORPHA:2131	Alternating hemiplegia of childhood			150
HP:0000496	HP:0000570	Abnormal saccadic eye movements	1	ATP1A3 CL E G H	478	801	ORPHA:2131	Alternating hemiplegia of childhood			150
HP:0000496	HP:0000657	Oculomotor apraxia	1	ATP1A3 CL E G H	478	801	ORPHA:2131	Alternating hemiplegia of childhood	HP:0040283 - Occasional		150
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	ATP1A3 CL E G H	478	801	ORPHA:2131	Alternating hemiplegia of childhood	HP:0040282 - Frequent		150
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	ATP1A3 CL E G H	478	801	OMIM:614820	Alternating hemiplegia of childhood 2			150
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	ATP1A3 CL E G H	478	801	OMIM:601338	Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss			150
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	ATP1A3 CL E G H	478	801	OMIM:619606	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 99; DEE99			150
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	ATP1A3 CL E G H	478	801	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040284 - Very rare		150
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	ATP2B3 CL E G H	492	816	OMIM:302500	Spinocerebellar ataxia, X-linked 1			19
HP:0000496	HP:0000570	Abnormal saccadic eye movements	1	ATP2B3 CL E G H	492	816	OMIM:302500	Spinocerebellar ataxia, X-linked 1			19
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	ATP2B3 CL E G H	492	816	OMIM:302500	Spinocerebellar ataxia, X-linked 1			19
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	ATP2B3 CL E G H	492	816	ORPHA:314978	X-linked non progressive cerebellar ataxia			19
HP:0000496	HP:0000617	Abnormality of ocular smooth pursuit	1	ATP2B3 CL E G H	492	816	ORPHA:314978	X-linked non progressive cerebellar ataxia			19
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	ATP5F1A CL E G H	498	823	OMIM:615228	Mitochondrial complex V (atp synthase) deficiency, nuclear type 4
HP:0000496	HP:0000597	Ophthalmoparesis	1	ATP5MK CL E G H	84833	30889	OMIM:618683	MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 6; MC5DN6
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	ATP6 CL E G H	4508	7414	ORPHA:225154	Familial infantile bilateral striatal necrosis
HP:0000496	HP:0000597	Ophthalmoparesis	1	ATP6 CL E G H	4508	7414	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040282 - Frequent
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	ATP6 CL E G H	4508	7414	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	ATP6 CL E G H	4508	7414	ORPHA:644	NARP syndrome
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	ATP6 CL E G H	4508	7414	OMIM:551500	Neuropathy, ataxia, and retinitis pigmentosa
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	ATP6V0A2 CL E G H	23545	18481	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type			140
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	ATP6V0A2 CL E G H	23545	18481	OMIM:219200	Cutis laxa, autosomal recessive, type IIA			140
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	ATP6V1A CL E G H	523	851	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type			3
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	ATP6V1A CL E G H	523	851	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040284 - Very rare		3
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	ATP6V1B2 CL E G H	526	854	ORPHA:79500	DOORS syndrome			5
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	ATP6V1B2 CL E G H	526	854	ORPHA:79500	DOORS syndrome			5
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	ATP6V1E1 CL E G H	529	857	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type			2
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	ATP6V1E1 CL E G H	529	857	OMIM:617402	Cutis laxa, autosomal recessive, type IIC			2
HP:0000496	HP:0000597	Ophthalmoparesis	1	ATP8 CL E G H	4509	7415	ORPHA:480	Kearns-Sayre syndrome
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	ATP8A2 CL E G H	51761	13533	ORPHA:1766	Dysequilibrium syndrome			24
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	ATR CL E G H	545	882	OMIM:210600	Seckel syndrome 1			168
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	ATRX CL E G H	546	886	OMIM:309580	Mental retardation-hypotonic facies syndrome, X-linked, 1			169
HP:0000496	HP:0000570	Abnormal saccadic eye movements	1	ATXN1 CL E G H	6310	10548	OMIM:164400	Spinocerebellar ataxia 1			19
HP:0000496	HP:0000597	Ophthalmoparesis	1	ATXN1 CL E G H	6310	10548	OMIM:164400	Spinocerebellar ataxia 1			19
HP:0000496	HP:0000617	Abnormality of ocular smooth pursuit	1	ATXN1 CL E G H	6310	10548	OMIM:164400	Spinocerebellar ataxia 1			19
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	ATXN1 CL E G H	6310	10548	OMIM:164400	Spinocerebellar ataxia 1			19
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	ATXN1 CL E G H	6310	10548	ORPHA:98755	Spinocerebellar ataxia type 1			19
HP:0000496	HP:0000570	Abnormal saccadic eye movements	1	ATXN1 CL E G H	6310	10548	ORPHA:98755	Spinocerebellar ataxia type 1			19
HP:0000496	HP:0000597	Ophthalmoparesis	1	ATXN1 CL E G H	6310	10548	ORPHA:98755	Spinocerebellar ataxia type 1	HP:0040283 - Occasional		19
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	ATXN1 CL E G H	6310	10548	ORPHA:98755	Spinocerebellar ataxia type 1			19
HP:0000496	HP:0000617	Abnormality of ocular smooth pursuit	1	ATXN10 CL E G H	25814	10549	OMIM:603516	Spinocerebellar ataxia 10			9
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	ATXN10 CL E G H	25814	10549	OMIM:603516	Spinocerebellar ataxia 10			9
HP:0000496	HP:0000617	Abnormality of ocular smooth pursuit	1	ATXN10 CL E G H	25814	10549	ORPHA:98761	Spinocerebellar ataxia type 10			9
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	ATXN10 CL E G H	25814	10549	ORPHA:98761	Spinocerebellar ataxia type 10			9
HP:0000496	HP:0000570	Abnormal saccadic eye movements	1	ATXN2 CL E G H	6311	10555	OMIM:183090	Spinocerebellar ataxia 2			11
HP:0000496	HP:0000597	Ophthalmoparesis	1	ATXN2 CL E G H	6311	10555	OMIM:183090	Spinocerebellar ataxia 2			11
HP:0000496	HP:0000617	Abnormality of ocular smooth pursuit	1	ATXN2 CL E G H	6311	10555	OMIM:183090	Spinocerebellar ataxia 2			11
HP:0000496	HP:0000657	Oculomotor apraxia	1	ATXN2 CL E G H	6311	10555	OMIM:183090	Spinocerebellar ataxia 2	.		11
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	ATXN2 CL E G H	6311	10555	OMIM:183090	Spinocerebellar ataxia 2			11
HP:0000496	HP:0000570	Abnormal saccadic eye movements	1	ATXN2 CL E G H	6311	10555	ORPHA:98756	Spinocerebellar ataxia type 2			11
HP:0000496	HP:0000597	Ophthalmoparesis	1	ATXN2 CL E G H	6311	10555	ORPHA:98756	Spinocerebellar ataxia type 2	HP:0040283 - Occasional		11
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	ATXN2 CL E G H	6311	10555	ORPHA:98756	Spinocerebellar ataxia type 2			11
HP:0000496	HP:0000570	Abnormal saccadic eye movements	1	ATXN3 CL E G H	4287	7106	OMIM:109150	Machado-Joseph disease			14
HP:0000496	HP:0000597	Ophthalmoparesis	1	ATXN3 CL E G H	4287	7106	OMIM:109150	Machado-Joseph disease			14
HP:0000496	HP:0000617	Abnormality of ocular smooth pursuit	1	ATXN3 CL E G H	4287	7106	OMIM:109150	Machado-Joseph disease			14
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	ATXN3 CL E G H	4287	7106	OMIM:109150	Machado-Joseph disease			14
HP:0000496	HP:0000597	Ophthalmoparesis	1	ATXN3 CL E G H	4287	7106	ORPHA:276238	Machado-Joseph disease type 1			14
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	ATXN3 CL E G H	4287	7106	ORPHA:276238	Machado-Joseph disease type 1			14
HP:0000496	HP:0000597	Ophthalmoparesis	1	ATXN3 CL E G H	4287	7106	ORPHA:276241	Machado-Joseph disease type 2			14
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	ATXN3 CL E G H	4287	7106	ORPHA:276241	Machado-Joseph disease type 2			14
HP:0000496	HP:0000597	Ophthalmoparesis	1	ATXN3 CL E G H	4287	7106	ORPHA:276244	Machado-Joseph disease type 3			14
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	ATXN3 CL E G H	4287	7106	ORPHA:276244	Machado-Joseph disease type 3			14
HP:0000496	HP:0000570	Abnormal saccadic eye movements	1	ATXN7 CL E G H	6314	10560	OMIM:164500	Spinocerebellar ataxia 7 opca III opca with retinal degeneration opca with macular degeneration and external ophthalmoplegia autosomal dominant cerebellar ataxia, type II adca, type II			8
HP:0000496	HP:0000597	Ophthalmoparesis	1	ATXN7 CL E G H	6314	10560	OMIM:164500	Spinocerebellar ataxia 7 opca III opca with retinal degeneration opca with macular degeneration and external ophthalmoplegia autosomal dominant cerebellar ataxia, type II adca, type II			8
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	ATXN7 CL E G H	6314	10560	OMIM:164500	Spinocerebellar ataxia 7 opca III opca with retinal degeneration opca with macular degeneration and external ophthalmoplegia autosomal dominant cerebellar ataxia, type II adca, type II			8
HP:0000496	HP:0000597	Ophthalmoparesis	1	ATXN7 CL E G H	6314	10560	ORPHA:94147	Spinocerebellar ataxia type 7	HP:0040282 - Frequent		8
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	ATXN7 CL E G H	6314	10560	ORPHA:94147	Spinocerebellar ataxia type 7			8
HP:0000496	HP:0000570	Abnormal saccadic eye movements	1	ATXN8 CL E G H	724066	32925	OMIM:608768	Spinocerebellar ataxia 8			1
HP:0000496	HP:0000617	Abnormality of ocular smooth pursuit	1	ATXN8 CL E G H	724066	32925	OMIM:608768	Spinocerebellar ataxia 8			1
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	ATXN8 CL E G H	724066	32925	OMIM:608768	Spinocerebellar ataxia 8			1
HP:0000496	HP:0000617	Abnormality of ocular smooth pursuit	1	ATXN8 CL E G H	724066	32925	ORPHA:98760	Spinocerebellar ataxia type 8			1
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	ATXN8 CL E G H	724066	32925	ORPHA:98760	Spinocerebellar ataxia type 8			1
HP:0000496	HP:0000570	Abnormal saccadic eye movements	1	ATXN8OS CL E G H	6315	10561	OMIM:608768	Spinocerebellar ataxia 8			1
HP:0000496	HP:0000617	Abnormality of ocular smooth pursuit	1	ATXN8OS CL E G H	6315	10561	OMIM:608768	Spinocerebellar ataxia 8			1
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	ATXN8OS CL E G H	6315	10561	OMIM:608768	Spinocerebellar ataxia 8			1
HP:0000496	HP:0000617	Abnormality of ocular smooth pursuit	1	ATXN8OS CL E G H	6315	10561	ORPHA:98760	Spinocerebellar ataxia type 8			1
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	ATXN8OS CL E G H	6315	10561	ORPHA:98760	Spinocerebellar ataxia type 8			1
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	AUTS2 CL E G H	26053	14262	ORPHA:352490	Autism spectrum disorder due to AUTS2 deficiency			61
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	AUTS2 CL E G H	26053	14262	OMIM:615834	Mental retardation, autosomal dominant 26			61
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	B3GALNT2 CL E G H	148789	28596	ORPHA:588	Muscle-eye-brain disease			43
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	B3GAT3 CL E G H	26229	923	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects			5
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	B3GLCT CL E G H	145173	20207	ORPHA:709	Peters plus syndrome			36
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	B3GLCT CL E G H	145173	20207	OMIM:261540	Peters-Plus syndrome			36
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	B4GALNT1 CL E G H	2583	4117	OMIM:609195	Spastic paraplegia 26, autosomal recessive			25
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	B9D1 CL E G H	27077	24123	ORPHA:475	Joubert syndrome			28
HP:0000496	HP:0000657	Oculomotor apraxia	1	B9D1 CL E G H	27077	24123	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent		28
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	B9D1 CL E G H	27077	24123	ORPHA:475	Joubert syndrome			28
HP:0000496	HP:0000657	Oculomotor apraxia	1	B9D1 CL E G H	27077	24123	OMIM:617120	Joubert syndrome 27	.		28
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	B9D1 CL E G H	27077	24123	OMIM:617120	Joubert syndrome 27			28
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	B9D2 CL E G H	80776	28636	ORPHA:475	Joubert syndrome			34
HP:0000496	HP:0000657	Oculomotor apraxia	1	B9D2 CL E G H	80776	28636	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent		34
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	B9D2 CL E G H	80776	28636	ORPHA:475	Joubert syndrome			34
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	BAP1 CL E G H	8314	950	OMIM:619762	KURY-ISIDOR SYNDROME; KURIS			184
HP:0000496	HP:0000597	Ophthalmoparesis	1	BAP1 CL E G H	8314	950	ORPHA:2495	Meningioma			184
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	BBIP1 CL E G H	92482	28093	ORPHA:110	Bardet-Biedl syndrome			1
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	BBS1 CL E G H	582	966	ORPHA:110	Bardet-Biedl syndrome			114
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	BBS1 CL E G H	582	966	OMIM:209900	Bardet-Biedl syndrome 1			114
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	BBS1 CL E G H	582	966	OMIM:209900	Bardet-Biedl syndrome 1			114
HP:0000496	HP:0000597	Ophthalmoparesis	1	BBS1 CL E G H	582	966	ORPHA:791	Retinitis pigmentosa			114
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	BBS1 CL E G H	582	966	ORPHA:791	Retinitis pigmentosa			114
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	BBS10 CL E G H	79738	26291	ORPHA:110	Bardet-Biedl syndrome			118
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	BBS12 CL E G H	166379	26648	ORPHA:110	Bardet-Biedl syndrome			71
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	BBS2 CL E G H	583	967	ORPHA:110	Bardet-Biedl syndrome			97
HP:0000496	HP:0000597	Ophthalmoparesis	1	BBS2 CL E G H	583	967	ORPHA:791	Retinitis pigmentosa			97
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	BBS2 CL E G H	583	967	ORPHA:791	Retinitis pigmentosa			97
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	BBS4 CL E G H	585	969	ORPHA:110	Bardet-Biedl syndrome			87
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	BBS5 CL E G H	129880	970	ORPHA:110	Bardet-Biedl syndrome			25
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	BBS7 CL E G H	55212	18758	ORPHA:110	Bardet-Biedl syndrome			66
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	BBS9 CL E G H	27241	30000	ORPHA:110	Bardet-Biedl syndrome			119
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	BBS9 CL E G H	27241	30000	OMIM:615986	BARDET-BIEDL SYNDROME 9; BBS9			119
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	BCAP31 CL E G H	10134	16695	OMIM:300475	Deafness, dystonia, and cerebral hypomyelination			8
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	BCAP31 CL E G H	10134	16695	ORPHA:369939	Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome			8
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	BCAS3 CL E G H	54828	14347	OMIM:619641	HENGEL-MAROOFIAN-SCHOLS SYNDROME; HEMARS			2
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	BCAS3 CL E G H	54828	14347	OMIM:619641	HENGEL-MAROOFIAN-SCHOLS SYNDROME; HEMARS			2
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	BCL11A CL E G H	53335	13221	OMIM:617101	Intellectual developmental disorder with persistence of fetal hemoglobin			11
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	BCOR CL E G H	54880	20893	ORPHA:568	Microphthalmia, Lenz type			101
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	BCOR CL E G H	54880	20893	OMIM:300166	Microphthalmia, syndromic 2			101
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	BCORL1 CL E G H	63035	25657	OMIM:301029	Shukla-Vernon syndrome			17
HP:0000496	HP:0000657	Oculomotor apraxia	1	BCR CL E G H	613	1014	ORPHA:261330	Distal 22q11.2 microdeletion syndrome	HP:0040283 - Occasional		5
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	BDNF CL E G H	627	1033	ORPHA:893	WAGR syndrome			5
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	BEAN1 CL E G H	146227	24160	OMIM:117210	Spinocerebellar ataxia 31			1
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	BEAN1 CL E G H	146227	24160	ORPHA:217012	Spinocerebellar ataxia type 31			1
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	BEST1 CL E G H	7439	12703	ORPHA:35612	Nanophthalmos			182
HP:0000496	HP:0000597	Ophthalmoparesis	1	BEST1 CL E G H	7439	12703	ORPHA:791	Retinitis pigmentosa			182
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	BEST1 CL E G H	7439	12703	ORPHA:791	Retinitis pigmentosa			182
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	BEST1 CL E G H	7439	12703	OMIM:193220	VITREORETINOCHOROIDOPATHY			182
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	BEST1 CL E G H	7439	12703	OMIM:193220	VITREORETINOCHOROIDOPATHY			182
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	BICRA CL E G H	29998	4332	OMIM:619325	COFFIN-SIRIS SYNDROME 12; CSS12			2
HP:0000496	HP:0000597	Ophthalmoparesis	1	BIN1 CL E G H	274	1052	ORPHA:169189	Autosomal dominant centronuclear myopathy			99
HP:0000496	HP:0000597	Ophthalmoparesis	1	BIN1 CL E G H	274	1052	ORPHA:169186	Autosomal recessive centronuclear myopathy	HP:0040283 - Occasional		99
HP:0000496	HP:0000597	Ophthalmoparesis	1	BIN1 CL E G H	274	1052	OMIM:255200	Myopathy, centronuclear, 2			99
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	BLOC1S3 CL E G H	388552	20914	OMIM:614077	Hermansky-Pudlak syndrome 8			42
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	BLOC1S3 CL E G H	388552	20914	OMIM:614077	Hermansky-Pudlak syndrome 8			42
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	BLOC1S5 CL E G H	63915	18561	OMIM:619172	HERMANSKY-PUDLAK SYNDROME 11; HPS11
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	BLOC1S5 CL E G H	63915	18561	OMIM:619172	HERMANSKY-PUDLAK SYNDROME 11; HPS11
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	BLOC1S6 CL E G H	26258	8549	OMIM:614171	Hermansky-Pudlak syndrome 9			35
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	BLTP1 CL E G H	84162	26953	OMIM:617822	Alkuraya-Kucinskas syndrome
HP:0000496	HP:0000657	Oculomotor apraxia	1	BLTP1 CL E G H	84162	26953	OMIM:617822	Alkuraya-Kucinskas syndrome	.
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	BMP4 CL E G H	652	1071	ORPHA:139471	Microphthalmia with brain and digit anomalies			38
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	BMP4 CL E G H	652	1071	OMIM:607932	Microphthalmia, syndromic 6			38
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	BPTF CL E G H	2186	3581	OMIM:617755	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES; NEDDFL			2
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	BRAF CL E G H	673	1097	ORPHA:1340	Cardiofaciocutaneous syndrome			276
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	BRAF CL E G H	673	1097	ORPHA:1340	Cardiofaciocutaneous syndrome			276
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	BRAF CL E G H	673	1097	OMIM:115150	Cardiofaciocutaneous syndrome 1			276
HP:0000496	HP:0000657	Oculomotor apraxia	1	BRAF CL E G H	673	1097	OMIM:115150	Cardiofaciocutaneous syndrome 1	.		276
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	BRAF CL E G H	673	1097	OMIM:115150	Cardiofaciocutaneous syndrome 1			276
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	BRAF CL E G H	673	1097	OMIM:613706	Noonan syndrome 7			276
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	BRAT1 CL E G H	221927	21701	OMIM:618056	Neurodevelopmental disorder with cerebellar atrophy and with or without seizures			20
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	BRCA1 CL E G H	672	1100	ORPHA:84	Fanconi anemia			5769
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	BRCA1 CL E G H	672	1100	ORPHA:84	Fanconi anemia			5769
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	BRCA2 CL E G H	675	1101	ORPHA:84	Fanconi anemia			7642
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	BRCA2 CL E G H	675	1101	ORPHA:84	Fanconi anemia			7642
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	BRD4 CL E G H	23476	13575	ORPHA:199	Cornelia de Lange syndrome
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	BRD4 CL E G H	23476	13575	ORPHA:199	Cornelia de Lange syndrome
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	BRF1 CL E G H	2972	11551	ORPHA:444072	Cerebellar-facial-dental syndrome			7
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	BRF1 CL E G H	2972	11551	OMIM:616202	Cerebellofaciodental syndrome			7
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	BRIP1 CL E G H	83990	20473	ORPHA:84	Fanconi anemia			1086
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	BRIP1 CL E G H	83990	20473	ORPHA:84	Fanconi anemia			1086
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	BRPF1 CL E G H	7862	14255	OMIM:617333	Intellectual developmental disorder with dysmorphic facies and ptosis			10
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	BUB1B CL E G H	701	1149	OMIM:257300	Mosaic variegated aneuploidy syndrome 1			76
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome
HP:0000496	HP:0000570	Abnormal saccadic eye movements	1	C19ORF12 CL E G H	83636	25443	ORPHA:289560	Mitochondrial membrane protein-associated neurodegeneration	HP:0040283 - Occasional		114
HP:0000496	HP:0000597	Ophthalmoparesis	1	C1QBP CL E G H	708	1243	OMIM:617713	Combined oxidative phosphorylation deficiency 33
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	C9ORF72 CL E G H	203228	28337	OMIM:105550	Amyotrophic lateral sclerosis and/or frontotemporal dementia 1			56
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	C9ORF72 CL E G H	203228	28337	ORPHA:275872	Frontotemporal dementia with motor neuron disease			56
HP:0000496	HP:0000597	Ophthalmoparesis	1	CA4 CL E G H	762	1375	ORPHA:791	Retinitis pigmentosa			23
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	CA4 CL E G H	762	1375	ORPHA:791	Retinitis pigmentosa			23
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	CA8 CL E G H	767	1382	OMIM:613227	Cerebellar ataxia, mental retardation, and dysequilibrium syndrome3			8
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	CA8 CL E G H	767	1382	ORPHA:1766	Dysequilibrium syndrome			8
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	CABP4 CL E G H	57010	1386	OMIM:610427	Cone-Rod synaptic disorder, congenital nonprogressive			94
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	CABP4 CL E G H	57010	1386	OMIM:610427	Cone-Rod synaptic disorder, congenital nonprogressive			94
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	CABP4 CL E G H	57010	1386	ORPHA:215	Congenital stationary night blindness			94
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	CABP4 CL E G H	57010	1386	ORPHA:215	Congenital stationary night blindness			94
HP:0000496	HP:0031705	Compensatory head posture	1	CABP4 CL E G H	57010	1386	ORPHA:215	Congenital stationary night blindness	HP:0040283 - Occasional		94
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	CACNA1A CL E G H	773	1388	ORPHA:2131	Alternating hemiplegia of childhood			449
HP:0000496	HP:0000570	Abnormal saccadic eye movements	1	CACNA1A CL E G H	773	1388	ORPHA:2131	Alternating hemiplegia of childhood			449
HP:0000496	HP:0000657	Oculomotor apraxia	1	CACNA1A CL E G H	773	1388	ORPHA:2131	Alternating hemiplegia of childhood	HP:0040283 - Occasional		449
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	CACNA1A CL E G H	773	1388	ORPHA:2131	Alternating hemiplegia of childhood	HP:0040282 - Frequent		449
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	CACNA1A CL E G H	773	1388	OMIM:617106	Epileptic encephalopathy, early infantile, 42			449
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	CACNA1A CL E G H	773	1388	OMIM:617106	Epileptic encephalopathy, early infantile, 42			449
HP:0000496	HP:0000617	Abnormality of ocular smooth pursuit	1	CACNA1A CL E G H	773	1388	OMIM:108500	Episodic ataxia, type 2			449
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	CACNA1A CL E G H	773	1388	OMIM:108500	Episodic ataxia, type 2			449
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	CACNA1A CL E G H	773	1388	ORPHA:569	Familial or sporadic hemiplegic migraine			449
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	CACNA1A CL E G H	773	1388	ORPHA:97	Familial paroxysmal ataxia			449
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	CACNA1A CL E G H	773	1388	OMIM:141500	Migraine, familial hemiplegic, 1			449
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	CACNA1A CL E G H	773	1388	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040284 - Very rare		449
HP:0000496	HP:0000617	Abnormality of ocular smooth pursuit	1	CACNA1A CL E G H	773	1388	OMIM:183086	Spinocerebellar ataxia 6			449
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	CACNA1A CL E G H	773	1388	OMIM:183086	Spinocerebellar ataxia 6			449
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	CACNA1A CL E G H	773	1388	ORPHA:98758	Spinocerebellar ataxia type 6			449
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	CACNA1B CL E G H	774	1389	OMIM:618497	Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements			5
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	CACNA1B CL E G H	774	1389	OMIM:618497	Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements			5
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	CACNA1B CL E G H	774	1389	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040284 - Very rare		5
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	CACNA1E CL E G H	777	1392	OMIM:618285	Developmental and epileptic encephalopathy 69			11
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	CACNA1F CL E G H	778	1393	OMIM:300600	Aland island eye disease			58
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	CACNA1F CL E G H	778	1393	ORPHA:178333	Åland Islands eye disease			58
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	CACNA1F CL E G H	778	1393	OMIM:300476	Cone-Rod dystrophy, X-linked, 3			58
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	CACNA1F CL E G H	778	1393	ORPHA:215	Congenital stationary night blindness			58
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	CACNA1F CL E G H	778	1393	ORPHA:215	Congenital stationary night blindness			58
HP:0000496	HP:0031705	Compensatory head posture	1	CACNA1F CL E G H	778	1393	ORPHA:215	Congenital stationary night blindness	HP:0040283 - Occasional		58
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	CACNA1F CL E G H	778	1393	OMIM:300071	Night blindness, congenital stationary, type 2A			58
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	CACNA1F CL E G H	778	1393	OMIM:300071	Night blindness, congenital stationary, type 2A			58
HP:0000496	HP:0000617	Abnormality of ocular smooth pursuit	1	CACNA1G CL E G H	8913	1394	OMIM:616795	Spinocerebellar ataxia 42			32
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	CACNA1G CL E G H	8913	1394	OMIM:616795	Spinocerebellar ataxia 42			32
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	CACNA1G CL E G H	8913	1394	OMIM:618087	Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits			32
HP:0000496	HP:0000657	Oculomotor apraxia	1	CACNA1G CL E G H	8913	1394	OMIM:618087	Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits	.		32
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	CACNA1G CL E G H	8913	1394	ORPHA:458803	Spinocerebellar ataxia type 42			32
HP:0000496	HP:0000570	Abnormal saccadic eye movements	1	CACNA1G CL E G H	8913	1394	ORPHA:458803	Spinocerebellar ataxia type 42			32
HP:0000496	HP:0000617	Abnormality of ocular smooth pursuit	1	CACNA1G CL E G H	8913	1394	ORPHA:458803	Spinocerebellar ataxia type 42			32
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	CACNA1G CL E G H	8913	1394	ORPHA:458803	Spinocerebellar ataxia type 42			32
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	CACNA1H CL E G H	8912	1395	ORPHA:64280	Childhood absence epilepsy			75
HP:0000496	HP:0000597	Ophthalmoparesis	1	CACNA1S CL E G H	779	1397	ORPHA:79102	Thyrotoxic periodic paralysis	HP:0040284 - Very rare		247
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	CACNA2D1 CL E G H	781	1399	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040284 - Very rare		59
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	CACNA2D2 CL E G H	9254	1400	OMIM:618501	Cerebellar atrophy with seizures and variable developmental delay			48
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	CACNA2D2 CL E G H	9254	1400	OMIM:618501	Cerebellar atrophy with seizures and variable developmental delay			48
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	CACNA2D4 CL E G H	93589	20202	ORPHA:215	Congenital stationary night blindness			129
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	CACNA2D4 CL E G H	93589	20202	ORPHA:215	Congenital stationary night blindness			129
HP:0000496	HP:0031705	Compensatory head posture	1	CACNA2D4 CL E G H	93589	20202	ORPHA:215	Congenital stationary night blindness	HP:0040283 - Occasional		129
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	CACNB4 CL E G H	785	1404	OMIM:607682	Epilepsy, idiopathic generalized, susceptibility to, 9			146
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	CACNB4 CL E G H	785	1404	ORPHA:211067	Episodic ataxia type 5			146
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	CACNB4 CL E G H	785	1404	OMIM:613855	Episodic ataxia, type 5			146
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	CAMK2A CL E G H	815	1460	OMIM:617798	Mental retardation, autosomal dominant 53			1
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	CAMK2B CL E G H	816	1461	OMIM:617799	Mental retardation, autosomal dominant 54
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	CAMK2B CL E G H	816	1461	OMIM:617799	Mental retardation, autosomal dominant 54
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	CAMK2G CL E G H	818	1463	OMIM:618522	Intellectual developmental disorder 59			1
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	CAMTA1 CL E G H	23261	18806	OMIM:614756	Cerebellar ataxia, nonprogressive, with mental retardation			34
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	CAMTA1 CL E G H	23261	18806	ORPHA:314647	Non-progressive cerebellar ataxia with intellectual disability			34
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	CAPN1 CL E G H	823	1476	OMIM:616907	SPASTIC PARAPLEGIA 76, AUTOSOMAL RECESSIVE; SPG76			4
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	CARS1 CL E G H	833	1493	OMIM:618891	MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME; MDBH
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	CARS1 CL E G H	833	1493	ORPHA:33364	Trichothiodystrophy
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	CARS1 CL E G H	833	1493	ORPHA:33364	Trichothiodystrophy
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	CASK CL E G H	8573	1497	ORPHA:1934	Early infantile epileptic encephalopathy			118
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	CASK CL E G H	8573	1497	OMIM:300749	Mental retardation and microcephaly with pontine and cerebellar hypoplasia			118
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	CASK CL E G H	8573	1497	OMIM:300749	Mental retardation and microcephaly with pontine and cerebellar hypoplasia			118
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	CASK CL E G H	8573	1497	ORPHA:163937	X-linked intellectual disability, Najm type			118
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	CASK CL E G H	8573	1497	ORPHA:163937	X-linked intellectual disability, Najm type			118
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	CASZ1 CL E G H	54897	26002	ORPHA:1606	1p36 deletion syndrome			3
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	CASZ1 CL E G H	54897	26002	ORPHA:1606	1p36 deletion syndrome			3
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	CAV1 CL E G H	857	1527	OMIM:606721	Lipodystrophy, familial partial, type 7			11
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	CBL CL E G H	867	1541	ORPHA:648	Noonan syndrome			317
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	CBL CL E G H	867	1541	ORPHA:648	Noonan syndrome			317
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	CBY1 CL E G H	25776	1307	ORPHA:475	Joubert syndrome			1
HP:0000496	HP:0000657	Oculomotor apraxia	1	CBY1 CL E G H	25776	1307	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent		1
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	CBY1 CL E G H	25776	1307	ORPHA:475	Joubert syndrome			1
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	CC2D2A CL E G H	57545	29253	OMIM:619111	COACH SYNDROME 2; COACH2			247
HP:0000496	HP:0000657	Oculomotor apraxia	1	CC2D2A CL E G H	57545	29253	OMIM:619111	COACH SYNDROME 2; COACH2			247
HP:0000496	HP:0000657	Oculomotor apraxia	1	CC2D2A CL E G H	57545	29253	OMIM:612285	Joubert syndrome 9			247
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	CC2D2A CL E G H	57545	29253	OMIM:612285	Joubert syndrome 9			247
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	CC2D2A CL E G H	57545	29253	ORPHA:1454	Joubert syndrome with hepatic defect			247
HP:0000496	HP:0000657	Oculomotor apraxia	1	CC2D2A CL E G H	57545	29253	ORPHA:1454	Joubert syndrome with hepatic defect	HP:0040281 - Very frequent		247
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	CC2D2A CL E G H	57545	29253	ORPHA:1454	Joubert syndrome with hepatic defect			247
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	CC2D2A CL E G H	57545	29253	ORPHA:2318	Joubert syndrome with oculorenal defect			247
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	CC2D2A CL E G H	57545	29253	ORPHA:2318	Joubert syndrome with oculorenal defect			247
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	CCDC141 CL E G H	285025	26821	ORPHA:478	Kallmann syndrome
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	CCDC174 CL E G H	51244	28033	OMIM:616816	Hypotonia, infantile, with psychomotor retardation			1
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	CCDC28B CL E G H	79140	28163	OMIM:209900	Bardet-Biedl syndrome 1			4
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	CCDC28B CL E G H	79140	28163	OMIM:209900	Bardet-Biedl syndrome 1			4
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	CCDC88C CL E G H	440193	19967	ORPHA:423275	Spinocerebellar ataxia type 40			54
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	CCNQ CL E G H	92002	28434	OMIM:300707	Toe syndactyly, telecanthus, and anogenital and renal malformations			7
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	CD96 CL E G H	10225	16892	OMIM:211750	C syndrome			83
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	CD96 CL E G H	10225	16892	ORPHA:1308	C syndrome			83
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	CDC42 CL E G H	998	1736	ORPHA:487796	Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome			6
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	CDC42 CL E G H	998	1736	OMIM:616737	Takenouchi-Kosaki syndrome			6
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	CDC45 CL E G H	8318	1739	OMIM:617063	Meier-Gorlin syndrome 7			9
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	CDCA7 CL E G H	83879	14628	OMIM:616910	Immunodeficiency-Centromeric instability-facial anomalies syndrome 3			4
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	CDH11 CL E G H	1009	1750	ORPHA:1299	Branchioskeletogenital syndrome			2
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	CDH11 CL E G H	1009	1750	OMIM:211380	Elsahy-Waters syndrome			2
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	CDH2 CL E G H	1000	1759	OMIM:618929	AGENESIS OF CORPUS CALLOSUM, CARDIAC, OCULAR, AND GENITAL SYNDROME; ACOGS
HP:0000496	HP:0000597	Ophthalmoparesis	1	CDH23 CL E G H	64072	13733	ORPHA:2965	Prolactinoma			636
HP:0000496	HP:0000597	Ophthalmoparesis	1	CDH23 CL E G H	64072	13733	ORPHA:91347	TSH-secreting pituitary adenoma			636
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	CDH3 CL E G H	1001	1762	ORPHA:1897	EEM syndrome			87
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	CDH3 CL E G H	1001	1762	ORPHA:1573	Hypotrichosis with juvenile macular degeneration			87
HP:0000496	HP:0000597	Ophthalmoparesis	1	CDHR1 CL E G H	92211	14550	ORPHA:791	Retinitis pigmentosa			147
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	CDHR1 CL E G H	92211	14550	ORPHA:791	Retinitis pigmentosa			147
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	CDK13 CL E G H	8621	1733	OMIM:617360	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder			8
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	CDK19 CL E G H	23097	19338	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040284 - Very rare
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	CDK8 CL E G H	1024	1779	OMIM:618748	INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA AND BEHAVIORAL ABNORMALITIES; IDDHBA
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	CDKL5 CL E G H	6792	11411	ORPHA:1934	Early infantile epileptic encephalopathy			405
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	CDON CL E G H	50937	17104	ORPHA:280200	Microform holoprosencephaly			200
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	CELF2 CL E G H	10659	2550	OMIM:619561	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 97; DEE97
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	CELF2 CL E G H	10659	2550	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040284 - Very rare
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	CENPE CL E G H	1062	1856	OMIM:616051	Microcephaly 13, primary, autosomal recessive			20
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	CENPJ CL E G H	55835	17272	OMIM:608393	Microcephaly, primary autosomal recessive, 6			161
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	CEP104 CL E G H	9731	24866	OMIM:619988				5
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	CEP104 CL E G H	9731	24866	ORPHA:475	Joubert syndrome			5
HP:0000496	HP:0000657	Oculomotor apraxia	1	CEP104 CL E G H	9731	24866	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent		5
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	CEP104 CL E G H	9731	24866	ORPHA:475	Joubert syndrome			5
HP:0000496	HP:0000657	Oculomotor apraxia	1	CEP104 CL E G H	9731	24866	OMIM:616781	Joubert syndrome 25			5
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	CEP120 CL E G H	153241	26690	ORPHA:475	Joubert syndrome			7
HP:0000496	HP:0000657	Oculomotor apraxia	1	CEP120 CL E G H	153241	26690	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent		7
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	CEP120 CL E G H	153241	26690	ORPHA:475	Joubert syndrome			7
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	CEP120 CL E G H	153241	26690	OMIM:617761	Joubert syndrome 31			7
HP:0000496	HP:0000657	Oculomotor apraxia	1	CEP120 CL E G H	153241	26690	OMIM:617761	Joubert syndrome 31	.		7
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	CEP120 CL E G H	153241	26690	OMIM:617761	Joubert syndrome 31			7
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	CEP120 CL E G H	153241	26690	ORPHA:220493	Joubert syndrome with ocular defect			7
HP:0000496	HP:0000657	Oculomotor apraxia	1	CEP120 CL E G H	153241	26690	ORPHA:220493	Joubert syndrome with ocular defect	HP:0040281 - Very frequent		7
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	CEP120 CL E G H	153241	26690	ORPHA:220493	Joubert syndrome with ocular defect			7
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	CEP152 CL E G H	22995	29298	OMIM:613823	Seckel syndrome 5			146
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	CEP164 CL E G H	22897	29182	OMIM:614845	Nephronophthisis 15			34
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	CEP19 CL E G H	84984	28209	ORPHA:110	Bardet-Biedl syndrome			1
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	CEP290 CL E G H	80184	29021	ORPHA:110	Bardet-Biedl syndrome			342
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	CEP290 CL E G H	80184	29021	OMIM:615991	Bardet-Biedl syndrome 14			342
HP:0000496	HP:0000657	Oculomotor apraxia	1	CEP290 CL E G H	80184	29021	OMIM:610188	Joubert syndrome 5	.		342
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	CEP290 CL E G H	80184	29021	OMIM:610188	Joubert syndrome 5			342
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	CEP290 CL E G H	80184	29021	ORPHA:2318	Joubert syndrome with oculorenal defect			342
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	CEP290 CL E G H	80184	29021	ORPHA:2318	Joubert syndrome with oculorenal defect			342
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	CEP290 CL E G H	80184	29021	ORPHA:65	Leber congenital amaurosis			342
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	CEP41 CL E G H	95681	12370	ORPHA:475	Joubert syndrome			90
HP:0000496	HP:0000657	Oculomotor apraxia	1	CEP41 CL E G H	95681	12370	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent		90
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	CEP41 CL E G H	95681	12370	ORPHA:475	Joubert syndrome			90
HP:0000496	HP:0000657	Oculomotor apraxia	1	CEP41 CL E G H	95681	12370	OMIM:614464	Joubert syndrome 15	HP:0040282 - Frequent		90
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	CEP41 CL E G H	95681	12370	ORPHA:220493	Joubert syndrome with ocular defect			90
HP:0000496	HP:0000657	Oculomotor apraxia	1	CEP41 CL E G H	95681	12370	ORPHA:220493	Joubert syndrome with ocular defect	HP:0040281 - Very frequent		90
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	CEP41 CL E G H	95681	12370	ORPHA:220493	Joubert syndrome with ocular defect			90
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	CEP78 CL E G H	84131	25740	OMIM:617236	CONE-ROD DYSTROPHY AND HEARING LOSS; CRDHL			9
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	CEP83 CL E G H	51134	17966	OMIM:615862	Nephronophthisis 18			10
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	CEP85L CL E G H	387119	21638	ORPHA:572013	Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome			1
HP:0000496	HP:0000597	Ophthalmoparesis	1	CERKL CL E G H	375298	21699	ORPHA:791	Retinitis pigmentosa			71
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	CERKL CL E G H	375298	21699	ORPHA:791	Retinitis pigmentosa			71
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	CERS1 CL E G H	10715	14253	OMIM:616230	Epilepsy, progressive myoclonic, 8			1
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	CFAP410 CL E G H	755	1260	OMIM:602271	Spondylometaphyseal dysplasia, axial
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	CFAP418 CL E G H	157657	27232	ORPHA:110	Bardet-Biedl syndrome
HP:0000496	HP:0000597	Ophthalmoparesis	1	CFAP418 CL E G H	157657	27232	ORPHA:791	Retinitis pigmentosa
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	CFAP418 CL E G H	157657	27232	ORPHA:791	Retinitis pigmentosa
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	CHAMP1 CL E G H	283489	20311	OMIM:616579	Mental retardation, autosomal dominant 40			16
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	CHAT CL E G H	1103	1912	OMIM:254210	Myasthenic syndrome, congenital, 6, presynaptic			65
HP:0000496	HP:0000597	Ophthalmoparesis	1	CHAT CL E G H	1103	1912	OMIM:254210	Myasthenic syndrome, congenital, 6, presynaptic	.		65
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	CHAT CL E G H	1103	1912	ORPHA:98914	Presynaptic congenital myasthenic syndromes			65
HP:0000496	HP:0000597	Ophthalmoparesis	1	CHAT CL E G H	1103	1912	ORPHA:98914	Presynaptic congenital myasthenic syndromes			65
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	CHAT CL E G H	1103	1912	ORPHA:98914	Presynaptic congenital myasthenic syndromes			65
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	CHCHD10 CL E G H	400916	15559	ORPHA:275872	Frontotemporal dementia with motor neuron disease			11
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	CHD3 CL E G H	1107	1918	OMIM:618205	Snijders blok-campeau syndrome			2
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	CHD7 CL E G H	55636	20626	ORPHA:138	CHARGE syndrome			515
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	CHD7 CL E G H	55636	20626	ORPHA:138	CHARGE syndrome			515
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	CHD7 CL E G H	55636	20626	ORPHA:478	Kallmann syndrome			515
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	CHKA CL E G H	1119	1937	OMIM:620023
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	CHMP1A CL E G H	5119	8740	OMIM:614961	Pontocerebellar hypoplasia, type 8			19
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	CHN1 CL E G H	1123	1943	ORPHA:233	Duane retraction syndrome			35
HP:0000496	HP:0000597	Ophthalmoparesis	1	CHN1 CL E G H	1123	1943	ORPHA:233	Duane retraction syndrome			35
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	CHN1 CL E G H	1123	1943	ORPHA:233	Duane retraction syndrome			35
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	CHN1 CL E G H	1123	1943	OMIM:604356	DUANE RETRACTION SYNDROME 2; DURS2			35
HP:0000496	HP:0000570	Abnormal saccadic eye movements	1	CHP1 CL E G H	11261	17433	OMIM:618438	Spastic ataxia 9, autosomal recessive
HP:0000496	HP:0007941	Limited extraocular movements	1	CHP1 CL E G H	11261	17433	OMIM:618438	Spastic ataxia 9, autosomal recessive	.
HP:0000496	HP:0000597	Ophthalmoparesis	1	CHRNA1 CL E G H	1134	1955	OMIM:601462	Myasthenic syndrome, congenital, 1A, slow-channel	.		74
HP:0000496	HP:0000597	Ophthalmoparesis	1	CHRNA1 CL E G H	1134	1955	OMIM:608930	Myasthenic syndrome, congenital, 1B, fast-channel	.		74
HP:0000496	HP:0000597	Ophthalmoparesis	1	CHRNA1 CL E G H	1134	1955	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent		74
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	CHRNA7 CL E G H	1139	1960	ORPHA:199318	15q13.3 microdeletion syndrome			52
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	CHRNA7 CL E G H	1139	1960	OMIM:612001	Chromosome 15q13.3 microdeletion syndrome			52
HP:0000496	HP:0000597	Ophthalmoparesis	1	CHRNB1 CL E G H	1140	1961	OMIM:616313	Myasthenic syndrome, congenital, 2A, slow-channel			53
HP:0000496	HP:0000597	Ophthalmoparesis	1	CHRNB1 CL E G H	1140	1961	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent		53
HP:0000496	HP:0000597	Ophthalmoparesis	1	CHRND CL E G H	1144	1965	OMIM:616322	Myasthenic syndrome, congenital, 3B, fast-channel			88
HP:0000496	HP:0000597	Ophthalmoparesis	1	CHRND CL E G H	1144	1965	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent		88
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	CHRNE CL E G H	1145	1966	OMIM:605809	Myasthenic syndrome, congenital, 4A, slow-channel			139
HP:0000496	HP:0000597	Ophthalmoparesis	1	CHRNE CL E G H	1145	1966	OMIM:605809	Myasthenic syndrome, congenital, 4A, slow-channel	.		139
HP:0000496	HP:0000597	Ophthalmoparesis	1	CHRNE CL E G H	1145	1966	OMIM:616324	Myasthenic syndrome, congenital, 4B, fast-channel			139
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	CHRNE CL E G H	1145	1966	OMIM:608931	Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency			139
HP:0000496	HP:0000597	Ophthalmoparesis	1	CHRNE CL E G H	1145	1966	OMIM:608931	Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency	.		139
HP:0000496	HP:0000597	Ophthalmoparesis	1	CHRNE CL E G H	1145	1966	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent		139
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	CHRNG CL E G H	1146	1967	ORPHA:2990	Autosomal recessive multiple pterygium syndrome			68
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	CHST14 CL E G H	113189	24464	OMIM:601776	Ehlers-Danlos syndrome, musculocontractural type 1			27
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	CHST14 CL E G H	113189	24464	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome			27
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	CHST3 CL E G H	9469	1971	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects			165
HP:0000496	HP:0000597	Ophthalmoparesis	1	CISD2 CL E G H	493856	24212	ORPHA:3463	Wolfram syndrome			3
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	CISD2 CL E G H	493856	24212	ORPHA:3463	Wolfram syndrome			3
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	CLCN3 CL E G H	1182	2021	OMIM:619512	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA			2
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	CLCN3 CL E G H	1182	2021	OMIM:619512	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA			2
HP:0000496	HP:0025404	Abnormal visual fixation	1	CLCN3 CL E G H	1182	2021	OMIM:619517	NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ABNORMALITIES; NEDSBA			2
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	CLCN3 CL E G H	1182	2021	OMIM:619517	NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ABNORMALITIES; NEDSBA			2
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	CLCN4 CL E G H	1183	2022	ORPHA:485350	CLCN4-related X-linked intellectual disability syndrome			45
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	CLCN4 CL E G H	1183	2022	OMIM:300114	Raynaud-Claes syndrome			45
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	CLCN6 CL E G H	1185	2024	OMIM:619173	NEURODEGENERATION, CHILDHOOD-ONSET, WITH HYPOTONIA, RESPIRATORY INSUFFICIENCY, AND BRAIN IMAGING ABNORMALITIES; CONRIBA
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	CLCN6 CL E G H	1185	2024	OMIM:619173	NEURODEGENERATION, CHILDHOOD-ONSET, WITH HYPOTONIA, RESPIRATORY INSUFFICIENCY, AND BRAIN IMAGING ABNORMALITIES; CONRIBA
HP:0000496	HP:0000570	Abnormal saccadic eye movements	1	CLCN7 CL E G H	1186	2025	ORPHA:667	Autosomal recessive malignant osteopetrosis			102
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	CLCN7 CL E G H	1186	2025	ORPHA:667	Autosomal recessive malignant osteopetrosis			102
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	CLDN11 CL E G H	5010	8514	OMIM:619328	Leukodystrophy, hypomyelinating, 22
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	CLDN11 CL E G H	5010	8514	OMIM:619328	Leukodystrophy, hypomyelinating, 22
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	CLDN16 CL E G H	10686	2037	OMIM:248250	Hypomagnesemia 3, renal			58
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	CLDN16 CL E G H	10686	2037	OMIM:248250	Hypomagnesemia 3, renal			58
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	CLDN19 CL E G H	149461	2040	ORPHA:2196	Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement			42
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	CLDN19 CL E G H	149461	2040	OMIM:248190	Hypomagnesemia 5, renal, with or without ocular involvement			42
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	CLDN19 CL E G H	149461	2040	OMIM:248190	Hypomagnesemia 5, renal, with or without ocular involvement			42
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	CLN3 CL E G H	1201	2074	ORPHA:228346	CLN3 disease			216
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	CLN5 CL E G H	1203	2076	OMIM:256731	Ceroid lipofuscinosis, neuronal, 5			141
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	CLN5 CL E G H	1203	2076	ORPHA:228360	CLN5 disease			141
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	CLP1 CL E G H	10978	16999	ORPHA:411493	Pontocerebellar hypoplasia type 10			7
HP:0000496	HP:0025404	Abnormal visual fixation	1	CLP1 CL E G H	10978	16999	ORPHA:411493	Pontocerebellar hypoplasia type 10			7
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	CLP1 CL E G H	10978	16999	OMIM:615803	Pontocerebellar hypoplasia, type 10			7
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	CLP1 CL E G H	10978	16999	OMIM:615803	Pontocerebellar hypoplasia, type 10			7
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	CLPB CL E G H	81570	30664	ORPHA:445038	3-methylglutaconic aciduria type 7			38
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	CLPB CL E G H	81570	30664	OMIM:616271	3-Methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia			38
HP:0000496	HP:0000597	Ophthalmoparesis	1	CLRN1 CL E G H	7401	12605	ORPHA:791	Retinitis pigmentosa			60
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	CLRN1 CL E G H	7401	12605	ORPHA:791	Retinitis pigmentosa			60
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	CLTC CL E G H	1213	2092	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040284 - Very rare		1
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	CLTCL1 CL E G H	8218	2093	ORPHA:453510	Congenital insensitivity to pain with severe intellectual disability			6
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	CLTCL1 CL E G H	8218	2093	ORPHA:453510	Congenital insensitivity to pain with severe intellectual disability			6
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	CLTRN CL E G H	57393	29437	ORPHA:2116	Hartnup disease
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	CLTRN CL E G H	57393	29437	ORPHA:2116	Hartnup disease
HP:0000496	HP:0000597	Ophthalmoparesis	1	CNGA1 CL E G H	1259	2148	ORPHA:791	Retinitis pigmentosa			44
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	CNGA1 CL E G H	1259	2148	ORPHA:791	Retinitis pigmentosa			44
HP:0000496	HP:0025404	Abnormal visual fixation	1	CNGA3 CL E G H	1261	2150	ORPHA:49382	Achromatopsia			82
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	CNGA3 CL E G H	1261	2150	ORPHA:49382	Achromatopsia			82
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	CNGA3 CL E G H	1261	2150	OMIM:216900	Achromatopsia 2			82
HP:0000496	HP:0000597	Ophthalmoparesis	1	CNGB1 CL E G H	1258	2151	ORPHA:791	Retinitis pigmentosa			164
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	CNGB1 CL E G H	1258	2151	ORPHA:791	Retinitis pigmentosa			164
HP:0000496	HP:0025404	Abnormal visual fixation	1	CNGB3 CL E G H	54714	2153	ORPHA:49382	Achromatopsia			194
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	CNGB3 CL E G H	54714	2153	ORPHA:49382	Achromatopsia			194
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	CNGB3 CL E G H	54714	2153	OMIM:262300	Achromatopsia 3			194
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	CNGB3 CL E G H	54714	2153	ORPHA:827	Stargardt disease			194
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	CNKSR2 CL E G H	22866	19701	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040284 - Very rare		18
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	CNNM4 CL E G H	26504	105	OMIM:217080	Jalili syndrome			61
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	CNNM4 CL E G H	26504	105	ORPHA:1873	Jalili syndrome			61
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	CNOT3 CL E G H	4849	7879	OMIM:618672	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, AUTISM, AND DYSMORPHIC FACIES; IDDSADF
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	CNOT3 CL E G H	4849	7879	OMIM:618672	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, AUTISM, AND DYSMORPHIC FACIES; IDDSADF
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	CNTNAP2 CL E G H	26047	13830	ORPHA:163681	CNTNAP2-related developmental and epileptic encephalopathy			518
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	COG4 CL E G H	25839	18620	ORPHA:263501	COG4-CDG			67
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	COG4 CL E G H	25839	18620	OMIM:613489	Congenital disorder of glycosylation, type IIj			67
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	COG5 CL E G H	10466	14857	ORPHA:263487	COG5-CDG			79
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	COG8 CL E G H	84342	18623	ORPHA:95428	COG8-CDG			39
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	COG8 CL E G H	84342	18623	OMIM:611182	Congenital disorder of glycosylation, type IIh			39
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	COL11A1 CL E G H	1301	2186	OMIM:154780	Marshall syndrome			215
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	COL11A1 CL E G H	1301	2186	ORPHA:560	Marshall syndrome			215
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	COL11A1 CL E G H	1301	2186	ORPHA:560	Marshall syndrome			215
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	COL11A2 CL E G H	1302	2187	ORPHA:1427	Otospondylomegaepiphyseal dysplasia			222
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	COL12A1 CL E G H	1303	2188	ORPHA:75840	Congenital muscular dystrophy, Ullrich type			65
HP:0000496	HP:0000597	Ophthalmoparesis	1	COL13A1 CL E G H	1305	2190	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent		6
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	COL13A1 CL E G H	1305	2190	ORPHA:98914	Presynaptic congenital myasthenic syndromes			6
HP:0000496	HP:0000597	Ophthalmoparesis	1	COL13A1 CL E G H	1305	2190	ORPHA:98914	Presynaptic congenital myasthenic syndromes			6
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	COL13A1 CL E G H	1305	2190	ORPHA:98914	Presynaptic congenital myasthenic syndromes			6
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	COL18A1 CL E G H	80781	2195	ORPHA:1571	Knobloch syndrome			177
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	COL18A1 CL E G H	80781	2195	ORPHA:1571	Knobloch syndrome			177
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	COL18A1 CL E G H	80781	2195	OMIM:267750	Knobloch syndrome 1			177
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	COL1A2 CL E G H	1278	2198	ORPHA:230851	Cardiac-valvular Ehlers-Danlos syndrome			243
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	COL25A1 CL E G H	84570	18603	ORPHA:91411	Congenital ptosis			3
HP:0000496	HP:0000597	Ophthalmoparesis	1	COL25A1 CL E G H	84570	18603	ORPHA:91411	Congenital ptosis			3
HP:0000496	HP:0031705	Compensatory head posture	1	COL25A1 CL E G H	84570	18603	ORPHA:91411	Congenital ptosis			3
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	COL25A1 CL E G H	84570	18603	OMIM:616219	Fibrosis of extraocular muscles, congenital, 5			3
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	COL2A1 CL E G H	1280	2200	ORPHA:93315	Spondylometaphyseal dysplasia, 'corner fracture' type			284
HP:0000496	HP:0000597	Ophthalmoparesis	1	COL3A1 CL E G H	1281	2201	ORPHA:231160	Familial cerebral saccular aneurysm			749
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	COL4A1 CL E G H	1282	2202	OMIM:175780	Brain small vessel disease 1 with or without ocular anomalies			193
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	COL4A2 CL E G H	1284	2203	OMIM:614483	PORENCEPHALY 2; POREN2			147
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	COL6A1 CL E G H	1291	2211	ORPHA:75840	Congenital muscular dystrophy, Ullrich type			442
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	COL6A2 CL E G H	1292	2212	ORPHA:75840	Congenital muscular dystrophy, Ullrich type			478
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	COL6A3 CL E G H	1293	2213	ORPHA:75840	Congenital muscular dystrophy, Ullrich type			702
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	COL8A2 CL E G H	1296	2216	ORPHA:98973	Posterior polymorphous corneal dystrophy			3
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	COLEC11 CL E G H	78989	17213	OMIM:265050	3mc syndrome 2			9
HP:0000496	HP:0000597	Ophthalmoparesis	1	COLQ CL E G H	8292	2226	OMIM:603034	Myasthenic syndrome, congenital, 5	.		90
HP:0000496	HP:0000597	Ophthalmoparesis	1	COLQ CL E G H	8292	2226	ORPHA:98915	Synaptic congenital myasthenic syndromes	HP:0040282 - Frequent		90
HP:0000496	HP:0007941	Limited extraocular movements	1	COLQ CL E G H	8292	2226	ORPHA:98915	Synaptic congenital myasthenic syndromes	HP:0040283 - Occasional		90
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome			6
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	COQ2 CL E G H	27235	25223	OMIM:607426	Coenzyme Q10 deficiency, primary, 1			54
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	COQ2 CL E G H	27235	25223	OMIM:146500	Multiple system atrophy 1, susceptibility to			54
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	COQ2 CL E G H	27235	25223	ORPHA:227510	Multiple system atrophy, cerebellar type			54
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	COQ2 CL E G H	27235	25223	ORPHA:98933	Multiple system atrophy, parkinsonian type			54
HP:0000496	HP:0000570	Abnormal saccadic eye movements	1	COQ5 CL E G H	84274	28722	OMIM:619028	COENZYME Q10 DEFICIENCY, PRIMARY, 9; COQ10D9
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	COQ5 CL E G H	84274	28722	OMIM:619028	COENZYME Q10 DEFICIENCY, PRIMARY, 9; COQ10D9
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	COQ8A CL E G H	56997	16812	ORPHA:139485	Autosomal recessive ataxia due to ubiquinone deficiency			136
HP:0000496	HP:0000597	Ophthalmoparesis	1	COX1 CL E G H	4512	7419	ORPHA:550	MELAS
HP:0000496	HP:0000597	Ophthalmoparesis	1	COX1 CL E G H	4512	7419	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	COX10 CL E G H	1352	2260	OMIM:619046	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 3; MC4DN3			82
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	COX15 CL E G H	1355	2263	ORPHA:255241	Leigh syndrome with leukodystrophy			104
HP:0000496	HP:0000597	Ophthalmoparesis	1	COX15 CL E G H	1355	2263	ORPHA:255241	Leigh syndrome with leukodystrophy			104
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	COX15 CL E G H	1355	2263	ORPHA:255241	Leigh syndrome with leukodystrophy			104
HP:0000496	HP:0000597	Ophthalmoparesis	1	COX16 CL E G H	51241	20213	OMIM:619355	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 22; MC4DN22
HP:0000496	HP:0000597	Ophthalmoparesis	1	COX2 CL E G H	4513	7421	ORPHA:550	MELAS
HP:0000496	HP:0000597	Ophthalmoparesis	1	COX2 CL E G H	4513	7421	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0000496	HP:0000597	Ophthalmoparesis	1	COX3 CL E G H	4514	7422	ORPHA:550	MELAS
HP:0000496	HP:0000597	Ophthalmoparesis	1	COX3 CL E G H	4514	7422	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	CP CL E G H	1356	2295	ORPHA:48818	Aceruloplasminemia			115
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	CPLANE1 CL E G H	65250	25801	ORPHA:475	Joubert syndrome
HP:0000496	HP:0000657	Oculomotor apraxia	1	CPLANE1 CL E G H	65250	25801	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	CPLANE1 CL E G H	65250	25801	ORPHA:475	Joubert syndrome
HP:0000496	HP:0000657	Oculomotor apraxia	1	CPLANE1 CL E G H	65250	25801	OMIM:614615	Joubert syndrome 17	.
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	CPLANE1 CL E G H	65250	25801	ORPHA:2754	Orofaciodigital syndrome type 6
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	CPLANE1 CL E G H	65250	25801	ORPHA:2754	Orofaciodigital syndrome type 6
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	CPLANE1 CL E G H	65250	25801	OMIM:277170	Orofaciodigital syndrome VI
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	CPLANE1 CL E G H	65250	25801	OMIM:277170	Orofaciodigital syndrome VI
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	CPLX1 CL E G H	10815	2309	OMIM:194190	Wolf-Hirschhorn syndrome			1
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	CPLX1 CL E G H	10815	2309	ORPHA:280	Wolf-Hirschhorn syndrome			1
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	CPLX1 CL E G H	10815	2309	OMIM:194190	Wolf-Hirschhorn syndrome			1
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	CPLX1 CL E G H	10815	2309	ORPHA:280	Wolf-Hirschhorn syndrome			1
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	CPSF3 CL E G H	51692	2326	OMIM:619876
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	CPSF3 CL E G H	51692	2326	OMIM:619876
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	CRB1 CL E G H	23418	2343	ORPHA:65	Leber congenital amaurosis			156
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	CRB1 CL E G H	23418	2343	OMIM:613835	Leber congenital amaurosis 8			156
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	CRB1 CL E G H	23418	2343	ORPHA:35612	Nanophthalmos			156
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	CRB1 CL E G H	23418	2343	OMIM:172870	Pigmented paravenous chorioretinal atrophy			156
HP:0000496	HP:0000597	Ophthalmoparesis	1	CRB1 CL E G H	23418	2343	ORPHA:791	Retinitis pigmentosa			156
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	CRB1 CL E G H	23418	2343	ORPHA:791	Retinitis pigmentosa			156
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	CRB1 CL E G H	23418	2343	OMIM:600105	Retinitis pigmentosa 12			156
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	CRB1 CL E G H	23418	2343	OMIM:600105	Retinitis pigmentosa 12			156
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	CREBBP CL E G H	1387	2348	OMIM:618332	MENKE-HENNEKAM SYNDROME 1; MKHK1			291
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1			291
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	CREBBP CL E G H	1387	2348	ORPHA:353277	Rubinstein-Taybi syndrome due to CREBBP mutations			291
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	CREBBP CL E G H	1387	2348	ORPHA:353277	Rubinstein-Taybi syndrome due to CREBBP mutations			291
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	CRIPT CL E G H	9419	14312	OMIM:615789	Short stature with microcephaly and distinctive facies			4
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	CRIPT CL E G H	9419	14312	OMIM:615789	Short stature with microcephaly and distinctive facies			4
HP:0000496	HP:0000657	Oculomotor apraxia	1	CRKL CL E G H	1399	2363	ORPHA:261330	Distal 22q11.2 microdeletion syndrome	HP:0040283 - Occasional
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	CRX CL E G H	1406	2383	ORPHA:65	Leber congenital amaurosis			158
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	CRX CL E G H	1406	2383	OMIM:613829	Leber congenital amaurosis 7			158
HP:0000496	HP:0000597	Ophthalmoparesis	1	CRX CL E G H	1406	2383	ORPHA:791	Retinitis pigmentosa			158
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	CRX CL E G H	1406	2383	ORPHA:791	Retinitis pigmentosa			158
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	CRYAA CL E G H	1409	2388	OMIM:604219	Cataract 9, multiple types			33
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	CRYAA CL E G H	1409	2388	OMIM:604219	Cataract 9, multiple types			33
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	CRYAA CL E G H	1409	2388	ORPHA:1377	Cataract-microcornea syndrome			33
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	CRYBA4 CL E G H	1413	2396	ORPHA:1377	Cataract-microcornea syndrome			10
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	CRYBB1 CL E G H	1414	2397	OMIM:611544	Cataract 17, multiple types			18
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	CRYBB1 CL E G H	1414	2397	ORPHA:1377	Cataract-microcornea syndrome			18
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	CRYBB2 CL E G H	1415	2398	ORPHA:1377	Cataract-microcornea syndrome			13
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	CRYGC CL E G H	1420	2410	OMIM:604307	Cataract 2, multiple types			11
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	CRYGC CL E G H	1420	2410	ORPHA:1377	Cataract-microcornea syndrome			11
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	CRYGD CL E G H	1421	2411	ORPHA:1377	Cataract-microcornea syndrome			29
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	CSF1R CL E G H	1436	2433	OMIM:618476	Brain abnormalities, neurodegeneration, and dysosteosclerosis			149
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	CSPP1 CL E G H	79848	26193	ORPHA:475	Joubert syndrome			57
HP:0000496	HP:0000657	Oculomotor apraxia	1	CSPP1 CL E G H	79848	26193	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent		57
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	CSPP1 CL E G H	79848	26193	ORPHA:475	Joubert syndrome			57
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	CSPP1 CL E G H	79848	26193	OMIM:615636	Joubert syndrome 21			57
HP:0000496	HP:0000657	Oculomotor apraxia	1	CSPP1 CL E G H	79848	26193	OMIM:615636	Joubert syndrome 21	.		57
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	CSPP1 CL E G H	79848	26193	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy			57
HP:0000496	HP:0000657	Oculomotor apraxia	1	CSPP1 CL E G H	79848	26193	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy	HP:0040282 - Frequent		57
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	CTBP1 CL E G H	1487	2494	OMIM:194190	Wolf-Hirschhorn syndrome			2
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	CTBP1 CL E G H	1487	2494	ORPHA:280	Wolf-Hirschhorn syndrome			2
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	CTBP1 CL E G H	1487	2494	OMIM:194190	Wolf-Hirschhorn syndrome			2
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	CTBP1 CL E G H	1487	2494	ORPHA:280	Wolf-Hirschhorn syndrome			2
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	CTCF CL E G H	10664	13723	ORPHA:363611	CTCF-related neurodevelopmental disorder			20
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	CTCF CL E G H	10664	13723	OMIM:615502	Mental retardation, autosomal dominant 21			20
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	CTDP1 CL E G H	9150	2498	OMIM:604168	Congenital cataracts, facial dysmorphism, and neuropathy			17
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	CTDP1 CL E G H	9150	2498	ORPHA:48431	Congenital cataracts-facial dysmorphism-neuropathy syndrome			17
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	CTDP1 CL E G H	9150	2498	ORPHA:48431	Congenital cataracts-facial dysmorphism-neuropathy syndrome			17
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	CTNNB1 CL E G H	1499	2514	OMIM:617572	Exudative vitreoretinopathy 7			88
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	CTNNB1 CL E G H	1499	2514	OMIM:615075	Neurodevelopmental disorder with spastic diplegia and visual defects			88
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	CTNNB1 CL E G H	1499	2514	ORPHA:404473	Severe intellectual disability-progressive spastic diplegia syndrome			88
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	CTSK CL E G H	1513	2536	ORPHA:763	Pycnodysostosis			39
HP:0000496	HP:0000657	Oculomotor apraxia	1	CWF19L1 CL E G H	55280	25613	ORPHA:453521	Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency	HP:0040282 - Frequent		9
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	CWF19L1 CL E G H	55280	25613	ORPHA:453521	Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency			9
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	CWF19L1 CL E G H	55280	25613	OMIM:616127	Spinocerebellar ataxia, autosomal recessive 17			9
HP:0000496	HP:0000657	Oculomotor apraxia	1	CWF19L1 CL E G H	55280	25613	OMIM:616127	Spinocerebellar ataxia, autosomal recessive 17			9
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	CYB5A CL E G H	1528	2570	ORPHA:621	Hereditary methemoglobinemia			2
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	CYB5R3 CL E G H	1727	2873	ORPHA:621	Hereditary methemoglobinemia			24
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	CYB5R3 CL E G H	1727	2873	OMIM:250800	Methemoglobinemia due to deficiency of methemoglobin reductase			24
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	CYFIP2 CL E G H	26999	13760	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040284 - Very rare		1
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	CYP1B1 CL E G H	1545	2597	ORPHA:708	Peters anomaly			101
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	CYP1B1 CL E G H	1545	2597	ORPHA:708	Peters anomaly			101
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	CYP27A1 CL E G H	1593	2605	ORPHA:909	Cerebrotendinous xanthomatosis			114
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	CYP7B1 CL E G H	9420	2652	ORPHA:100986	Autosomal recessive spastic paraplegia type 5A			57
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	CYP7B1 CL E G H	9420	2652	OMIM:270800	Spastic paraplegia 5A, autosomal recessive			57
HP:0000496	HP:0000597	Ophthalmoparesis	1	CYTB CL E G H	4519	7427	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	DAB1 CL E G H	1600	2661	OMIM:615945	Spinocerebellar ataxia 37			4
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	DAB1 CL E G H	1600	2661	ORPHA:363710	Spinocerebellar ataxia type 37	HP:0040281 - Very frequent		4
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	DAB1 CL E G H	1600	2661	ORPHA:363710	Spinocerebellar ataxia type 37			4
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	DACT1 CL E G H	51339	17748	ORPHA:857	Townes-Brocks syndrome			2
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	DALRD3 CL E G H	55152	25536	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040284 - Very rare
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	DARS1 CL E G H	1615	2678	OMIM:615281	HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY; HBSL
HP:0000496	HP:0000570	Abnormal saccadic eye movements	1	DARS2 CL E G H	55157	25538	ORPHA:137898	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome			60
HP:0000496	HP:0000617	Abnormality of ocular smooth pursuit	1	DARS2 CL E G H	55157	25538	ORPHA:137898	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome			60
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	DARS2 CL E G H	55157	25538	ORPHA:137898	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome			60
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	DARS2 CL E G H	55157	25538	OMIM:611105	Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation			60
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	DCC CL E G H	1630	2701	OMIM:617542	GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS, 2; HGPPS2			36
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	DCC CL E G H	1630	2701	ORPHA:2744	Horizontal gaze palsy with progressive scoliosis			36
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	DCC CL E G H	1630	2701	ORPHA:2744	Horizontal gaze palsy with progressive scoliosis			36
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	DCC CL E G H	1630	2701	ORPHA:478	Kallmann syndrome			36
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	DCN CL E G H	1634	2705	OMIM:610048	Corneal dystrophy, congenital stromal			31
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	DCT CL E G H	1638	2709	OMIM:619165	OCULOCUTANEOUS ALBINISM, TYPE VIII; OCA8
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	DCTN1 CL E G H	1639	2711	OMIM:168605	Perry syndrome			86
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	DCX CL E G H	1641	2714	OMIM:300067	Lissencephaly, X-linked, 1			145
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	DDB1 CL E G H	1642	2717	OMIM:619426	WHITE-KERNOHAN SYNDROME; WHIKERS
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	DDB1 CL E G H	1642	2717	OMIM:619426	WHITE-KERNOHAN SYNDROME; WHIKERS
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	DDB2 CL E G H	1643	2718	ORPHA:910	Xeroderma pigmentosum			30
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	DDHD2 CL E G H	23259	29106	ORPHA:320380	Autosomal recessive spastic paraplegia type 54			29
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	DDHD2 CL E G H	23259	29106	OMIM:615033	Spastic paraplegia 54, autosomal recessive			29
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	DDOST CL E G H	1650	2728	OMIM:614507	Congenital disorder of glycosylation, type IR			62
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	DDOST CL E G H	1650	2728	ORPHA:300536	DDOST-CDG			62
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	DDX3X CL E G H	1654	2745	OMIM:300958	MENTAL RETARDATION, X-LINKED 102; MRX102			57
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	DDX59 CL E G H	83479	25360	OMIM:174300	Orofaciodigital syndrome V			2
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	DDX6 CL E G H	1656	2747	OMIM:618653	INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES; IDDILF
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	DEAF1 CL E G H	10522	14677	ORPHA:819	Smith-Magenis syndrome			33
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	DEGS1 CL E G H	8560	13709	OMIM:618404	Leukodystrophy, hypomyelinating, 18
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	DGUOK CL E G H	1716	2858	ORPHA:329314	Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency			57
HP:0000496	HP:0000597	Ophthalmoparesis	1	DGUOK CL E G H	1716	2858	ORPHA:329314	Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency			57
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	DGUOK CL E G H	1716	2858	OMIM:251880	Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)	.		57
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	DGUOK CL E G H	1716	2858	OMIM:251880	Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)			57
HP:0000496	HP:0000597	Ophthalmoparesis	1	DGUOK CL E G H	1716	2858	OMIM:617070	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4			57
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	DHCR24 CL E G H	1718	2859	OMIM:602398	DESMOSTEROLOSIS			72
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	DHCR24 CL E G H	1718	2859	ORPHA:35107	Desmosterolosis			72
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	DHCR24 CL E G H	1718	2859	OMIM:602398	DESMOSTEROLOSIS			72
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	DHCR24 CL E G H	1718	2859	ORPHA:35107	Desmosterolosis			72
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	DHCR7 CL E G H	1717	2860	OMIM:270400	Smith-Lemli-Opitz syndrome			159
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	DHCR7 CL E G H	1717	2860	ORPHA:818	Smith-Lemli-Opitz syndrome			159
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	DHCR7 CL E G H	1717	2860	OMIM:270400	Smith-Lemli-Opitz syndrome			159
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	DHCR7 CL E G H	1717	2860	ORPHA:818	Smith-Lemli-Opitz syndrome			159
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	DHDDS CL E G H	79947	20603	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040284 - Very rare		47
HP:0000496	HP:0000597	Ophthalmoparesis	1	DHDDS CL E G H	79947	20603	ORPHA:791	Retinitis pigmentosa			47
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	DHDDS CL E G H	79947	20603	ORPHA:791	Retinitis pigmentosa			47
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	DHODH CL E G H	1723	2867	ORPHA:246	Postaxial acrofacial dysostosis			59
HP:0000496	HP:0000570	Abnormal saccadic eye movements	1	DHX16 CL E G H	8449	2739	OMIM:618733	NEUROMUSCULAR OCULOAUDITORY SYNDROME; NMOAS
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	DHX30 CL E G H	22907	16716	OMIM:617804	Neurodevelopmental disorder with severe motor impairment and absent language			4
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	DHX37 CL E G H	57647	17210	OMIM:618731	NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES AND WITH OR WITHOUT VERTEBRAL OR CARDIAC ANOMALIES; NEDBAVC			2
HP:0000496	HP:0000597	Ophthalmoparesis	1	DHX37 CL E G H	57647	17210	OMIM:618731	NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES AND WITH OR WITHOUT VERTEBRAL OR CARDIAC ANOMALIES; NEDBAVC			2
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	DHX37 CL E G H	57647	17210	OMIM:618731	NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES AND WITH OR WITHOUT VERTEBRAL OR CARDIAC ANOMALIES; NEDBAVC			2
HP:0000496	HP:0000597	Ophthalmoparesis	1	DHX38 CL E G H	9785	17211	ORPHA:791	Retinitis pigmentosa			1
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	DHX38 CL E G H	9785	17211	ORPHA:791	Retinitis pigmentosa			1
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	DISP1 CL E G H	84976	19711	ORPHA:280200	Microform holoprosencephaly			22
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	DKC1 CL E G H	1736	2890	OMIM:305000	Dyskeratosis congenita, X-linked			65
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	DKK1 CL E G H	22943	2891	ORPHA:268882	Arnold-Chiari malformation type I
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	DLAT CL E G H	1737	2896	ORPHA:79244	Pyruvate dehydrogenase E2 deficiency			82
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	DLAT CL E G H	1737	2896	OMIM:245348	Pyruvate dehydrogenase E2 deficiency			82
HP:0000496	HP:0000657	Oculomotor apraxia	1	DLAT CL E G H	1737	2896	OMIM:245348	Pyruvate dehydrogenase E2 deficiency	.		82
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	DLAT CL E G H	1737	2896	OMIM:245348	Pyruvate dehydrogenase E2 deficiency			82
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	DLG3 CL E G H	1741	2902	OMIM:300850	MENTAL RETARDATION, X-LINKED 90; MRX90			30
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	DLG4 CL E G H	1742	2903	OMIM:618793	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 62; MRD62			2
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	DLK1 CL E G H	8788	2907	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion			1
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	DLL1 CL E G H	28514	2908	ORPHA:280200	Microform holoprosencephaly			3
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	DLL4 CL E G H	54567	2910	ORPHA:974	Adams-Oliver syndrome			9
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	DMXL2 CL E G H	23312	2938	ORPHA:1934	Early infantile epileptic encephalopathy			3
HP:0000496	HP:0000597	Ophthalmoparesis	1	DNA2 CL E G H	1763	2939	ORPHA:352470	DNA2-related mitochondrial DNA deletion syndrome			41
HP:0000496	HP:0000597	Ophthalmoparesis	1	DNA2 CL E G H	1763	2939	OMIM:615156	Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal dominant, 6			41
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	DNAJC12 CL E G H	56521	28908	OMIM:617384	Hyperphenylalaninemia, MILD, non-bh4-deficient			3
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome
HP:0000496	HP:0000570	Abnormal saccadic eye movements	1	DNAJC6 CL E G H	9829	15469	OMIM:615528	Parkinson disease 19a, juvenile-onset			6
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	DNM1 CL E G H	1759	2972	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040284 - Very rare		72
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	DNM1L CL E G H	10059	2973	ORPHA:98673	Autosomal dominant optic atrophy, classic form			94
HP:0000496	HP:0000597	Ophthalmoparesis	1	DNM1L CL E G H	10059	2973	ORPHA:98673	Autosomal dominant optic atrophy, classic form			94
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	DNM1L CL E G H	10059	2973	ORPHA:98673	Autosomal dominant optic atrophy, classic form			94
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	DNM1L CL E G H	10059	2973	ORPHA:330050	DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect			94
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	DNM1L CL E G H	10059	2973	ORPHA:330050	DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect			94
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	DNM1L CL E G H	10059	2973	OMIM:614388	Encephalopathy due to defective mitochondrial and peroxisomal fission 1			94
HP:0000496	HP:0000657	Oculomotor apraxia	1	DNM1L CL E G H	10059	2973	OMIM:614388	Encephalopathy due to defective mitochondrial and peroxisomal fission 1	.		94
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	DNM1L CL E G H	10059	2973	OMIM:614388	Encephalopathy due to defective mitochondrial and peroxisomal fission 1			94
HP:0000496	HP:0000597	Ophthalmoparesis	1	DNM2 CL E G H	1785	2974	ORPHA:169189	Autosomal dominant centronuclear myopathy			167
HP:0000496	HP:0000597	Ophthalmoparesis	1	DNM2 CL E G H	1785	2974	OMIM:160150	Myopathy, centronuclear, autosomal dominant			167
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	DNMBP CL E G H	23268	30373	OMIM:618415	Cataract 48
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	DNMBP CL E G H	23268	30373	OMIM:618415	Cataract 48
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	DNMT1 CL E G H	1786	2976	ORPHA:314404	Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome			145
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	DNMT3A CL E G H	1788	2978	OMIM:618724	HEYN-SPROUL-JACKSON SYNDROME; HESJAS			44
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	DOCK6 CL E G H	57572	19189	ORPHA:974	Adams-Oliver syndrome			18
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	DOCK6 CL E G H	57572	19189	OMIM:614219	Adams-Oliver syndrome 2			18
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	DOHH CL E G H	83475	28662	OMIM:620066
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	DOHH CL E G H	83475	28662	OMIM:620066
HP:0000496	HP:0000597	Ophthalmoparesis	1	DOK7 CL E G H	285489	26594	OMIM:254300	Myasthenia, limb-girdle, familial	HP:0040283 - Occasional		91
HP:0000496	HP:0000597	Ophthalmoparesis	1	DOK7 CL E G H	285489	26594	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent		91
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	DOLK CL E G H	22845	23406	OMIM:610768	Congenital disorder of glycosylation, type Im			55
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	DOLK CL E G H	22845	23406	ORPHA:91131	DK1-CDG			55
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	DPAGT1 CL E G H	1798	2995	OMIM:608093	Congenital disorder of glycosylation, type Ij			38
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	DPAGT1 CL E G H	1798	2995	OMIM:608093	Congenital disorder of glycosylation, type Ij			38
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	DPAGT1 CL E G H	1798	2995	ORPHA:86309	DPAGT1-CDG			38
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	DPAGT1 CL E G H	1798	2995	ORPHA:86309	DPAGT1-CDG			38
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	DPF2 CL E G H	5977	9964	ORPHA:1465	Coffin-Siris syndrome
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	DPF2 CL E G H	5977	9964	OMIM:618027	Coffin-Siris syndrome 7
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	DPM1 CL E G H	8813	3005	OMIM:608799	Congenital disorder of glycosylation, type IE			27
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	DPM1 CL E G H	8813	3005	OMIM:608799	Congenital disorder of glycosylation, type IE			27
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	DPM1 CL E G H	8813	3005	ORPHA:79322	DPM1-CDG			27
HP:0000496	HP:0025404	Abnormal visual fixation	1	DPM1 CL E G H	8813	3005	ORPHA:79322	DPM1-CDG	HP:0040283 - Occasional		27
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	DPM1 CL E G H	8813	3005	ORPHA:79322	DPM1-CDG			27
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	DPM2 CL E G H	8818	3006	OMIM:615042	Congenital disorder of glycosylation, type Iu			26
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	DPM2 CL E G H	8818	3006	ORPHA:329178	Congenital muscular dystrophy with intellectual disability and severe epilepsy			26
HP:0000496	HP:0000617	Abnormality of ocular smooth pursuit	1	DPM2 CL E G H	8818	3006	ORPHA:329178	Congenital muscular dystrophy with intellectual disability and severe epilepsy			26
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	DPP6 CL E G H	1804	3010	ORPHA:2514	Autosomal dominant primary microcephaly			18
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	DPP6 CL E G H	1804	3010	ORPHA:2514	Autosomal dominant primary microcephaly			18
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	DPYD CL E G H	1806	3012	ORPHA:1675	Dihydropyrimidine dehydrogenase deficiency			144
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	DPYD CL E G H	1806	3012	OMIM:274270	Dihydropyrimidine dehydrogenase deficiency			144
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	DPYD CL E G H	1806	3012	ORPHA:1675	Dihydropyrimidine dehydrogenase deficiency			144
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	DPYSL5 CL E G H	56896	20637	OMIM:619435	RITSCHER-SCHINZEL SYNDROME 4; RTSC4
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	DSE CL E G H	29940	21144	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome			13
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	DTNBP1 CL E G H	84062	17328	OMIM:614076	Hermansky-Pudlak syndrome 7			46
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	DUSP6 CL E G H	1848	3072	ORPHA:478	Kallmann syndrome			4
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	DVL1 CL E G H	1855	3084	ORPHA:3107	Autosomal dominant Robinow syndrome			14
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	DVL3 CL E G H	1857	3087	ORPHA:3107	Autosomal dominant Robinow syndrome			5
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	DYNC2LI1 CL E G H	51626	24595	ORPHA:289	Ellis Van Creveld syndrome			7
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	DYRK1A CL E G H	1859	3091	ORPHA:268261	DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion			134
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	DYRK1A CL E G H	1859	3091	ORPHA:464311	Intellectual disability syndrome due to a DYRK1A point mutation			134
HP:0000496	HP:0000597	Ophthalmoparesis	1	EARS2 CL E G H	124454	29419	OMIM:614924	Combined oxidative phosphorylation deficiency 12			80
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	EBF3 CL E G H	253738	19087	OMIM:617330	HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS			25
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	EBP CL E G H	10682	3133	OMIM:302960	Chondrodysplasia punctata 2, X-linked dominant			51
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	ECHS1 CL E G H	1892	3151	ORPHA:255241	Leigh syndrome with leukodystrophy			33
HP:0000496	HP:0000597	Ophthalmoparesis	1	ECHS1 CL E G H	1892	3151	ORPHA:255241	Leigh syndrome with leukodystrophy			33
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	ECHS1 CL E G H	1892	3151	ORPHA:255241	Leigh syndrome with leukodystrophy			33
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	ECHS1 CL E G H	1892	3151	OMIM:616277	Mitochondrial short-chain enoyl-coa hydratase 1 deficiency			33
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	EDEM3 CL E G H	80267	16787	OMIM:619493	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 2v; CDG2V
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	EDNRB CL E G H	1910	3180	OMIM:277580	Waardenburg-Shah syndrome			55
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	EEF1A2 CL E G H	1917	3192	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040284 - Very rare		60
HP:0000496	HP:0000570	Abnormal saccadic eye movements	1	EEF2 CL E G H	1938	3214	OMIM:609306	Spinocerebellar ataxia 26			4
HP:0000496	HP:0000617	Abnormality of ocular smooth pursuit	1	EEF2 CL E G H	1938	3214	OMIM:609306	Spinocerebellar ataxia 26			4
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	EEF2 CL E G H	1938	3214	OMIM:609306	Spinocerebellar ataxia 26			4
HP:0000496	HP:0000570	Abnormal saccadic eye movements	1	EEF2 CL E G H	1938	3214	ORPHA:101112	Spinocerebellar ataxia type 26			4
HP:0000496	HP:0000617	Abnormality of ocular smooth pursuit	1	EEF2 CL E G H	1938	3214	ORPHA:101112	Spinocerebellar ataxia type 26			4
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	EEF2 CL E G H	1938	3214	ORPHA:101112	Spinocerebellar ataxia type 26			4
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	EFNB1 CL E G H	1947	3226	OMIM:304110	Craniofrontonasal syndrome			27
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	EFNB1 CL E G H	1947	3226	OMIM:304110	Craniofrontonasal syndrome			27
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	EGR2 CL E G H	1959	3239	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas			58
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	EIF2AK2 CL E G H	5610	9437	OMIM:619687	DYSTONIA 33; DYT33
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	EIF2AK3 CL E G H	9451	3255	ORPHA:1667	Wolcott-Rallison syndrome			65
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	EIF2S3 CL E G H	1968	3267	OMIM:300148	Mehmo syndrome			8
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	EIF2S3 CL E G H	1968	3267	ORPHA:85282	MEHMO syndrome			8
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	EIF3F CL E G H	8665	3275	OMIM:618295	Intellectual developmental disorder, autosomal recessive 67
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	EIF3F CL E G H	8665	3275	OMIM:618295	Intellectual developmental disorder, autosomal recessive 67
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	ELN CL E G H	2006	3327	ORPHA:90348	Autosomal dominant cutis laxa			172
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome			172
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome			172
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome			172
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	ELOVL1 CL E G H	64834	14418	OMIM:618527	Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	ELOVL4 CL E G H	6785	14415	OMIM:133190	Spinocerebellar ataxia 34			62
HP:0000496	HP:0000617	Abnormality of ocular smooth pursuit	1	ELOVL4 CL E G H	6785	14415	OMIM:133190	Spinocerebellar ataxia 34			62
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	ELOVL4 CL E G H	6785	14415	OMIM:133190	Spinocerebellar ataxia 34			62
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	ELOVL4 CL E G H	6785	14415	ORPHA:1955	Spinocerebellar ataxia type 34			62
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	ELOVL4 CL E G H	6785	14415	ORPHA:1955	Spinocerebellar ataxia type 34			62
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	ELOVL4 CL E G H	6785	14415	ORPHA:827	Stargardt disease			62
HP:0000496	HP:0000570	Abnormal saccadic eye movements	1	ELOVL5 CL E G H	60481	21308	OMIM:615957	Spinocerebellar ataxia 38			4
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	ELOVL5 CL E G H	60481	21308	OMIM:615957	Spinocerebellar ataxia 38			4
HP:0000496	HP:0000570	Abnormal saccadic eye movements	1	ELOVL5 CL E G H	60481	21308	ORPHA:423296	Spinocerebellar ataxia type 38			4
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	ELOVL5 CL E G H	60481	21308	ORPHA:423296	Spinocerebellar ataxia type 38			4
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	EMC1 CL E G H	23065	28957	OMIM:616875	Cerebellar atrophy, visual impairment, and psychomotor retardation			5
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	EMC1 CL E G H	23065	28957	ORPHA:480898	Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome			5
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	EMC10 CL E G H	284361	27609	OMIM:619264	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND VARIABLE SEIZURES; NEDDFAS
HP:0000496	HP:0000597	Ophthalmoparesis	1	ENG CL E G H	2022	3349	ORPHA:231160	Familial cerebral saccular aneurysm			186
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	EOGT CL E G H	285203	28526	ORPHA:974	Adams-Oliver syndrome			4
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	EP300 CL E G H	2033	3373	OMIM:618333	MENKE-HENNEKAM SYNDROME 2; MKHK2			250
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1			250
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	EP300 CL E G H	2033	3373	OMIM:613684	Rubinstein-Taybi syndrome 2			250
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	EP300 CL E G H	2033	3373	ORPHA:353284	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency			250
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	EP300 CL E G H	2033	3373	ORPHA:353284	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency			250
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	EPG5 CL E G H	57724	29331	ORPHA:1493	Vici syndrome			40
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	EPG5 CL E G H	57724	29331	OMIM:242840	Vici syndrome			40
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	EPRS1 CL E G H	2058	3418	OMIM:617951	Leukodystrophy, hypomyelinating, 15
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	ERCC1 CL E G H	2067	3433	OMIM:610758	Cerebrooculofacioskeletal syndrome 4			20
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	ERCC1 CL E G H	2067	3433	ORPHA:90322	Cockayne syndrome type 2			20
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	ERCC1 CL E G H	2067	3433	ORPHA:90322	Cockayne syndrome type 2			20
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	ERCC2 CL E G H	2068	3434	ORPHA:33364	Trichothiodystrophy			106
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	ERCC2 CL E G H	2068	3434	ORPHA:33364	Trichothiodystrophy			106
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	ERCC2 CL E G H	2068	3434	OMIM:601675	Trichothiodystrophy 1, photosensitive			106
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	ERCC2 CL E G H	2068	3434	OMIM:601675	Trichothiodystrophy 1, photosensitive			106
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	ERCC2 CL E G H	2068	3434	ORPHA:910	Xeroderma pigmentosum			106
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	ERCC2 CL E G H	2068	3434	ORPHA:220295	Xeroderma pigmentosum-Cockayne syndrome complex			106
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	ERCC3 CL E G H	2071	3435	ORPHA:33364	Trichothiodystrophy			54
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	ERCC3 CL E G H	2071	3435	ORPHA:33364	Trichothiodystrophy			54
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	ERCC3 CL E G H	2071	3435	ORPHA:910	Xeroderma pigmentosum			54
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	ERCC3 CL E G H	2071	3435	ORPHA:220295	Xeroderma pigmentosum-Cockayne syndrome complex			54
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	ERCC4 CL E G H	2072	3436	ORPHA:90321	Cockayne syndrome type 1			158
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	ERCC4 CL E G H	2072	3436	ORPHA:90321	Cockayne syndrome type 1			158
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	ERCC4 CL E G H	2072	3436	ORPHA:84	Fanconi anemia			158
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	ERCC4 CL E G H	2072	3436	ORPHA:84	Fanconi anemia			158
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	ERCC4 CL E G H	2072	3436	ORPHA:910	Xeroderma pigmentosum			158
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	ERCC4 CL E G H	2072	3436	OMIM:278760	Xeroderma pigmentosum, complementation group F			158
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	ERCC4 CL E G H	2072	3436	ORPHA:220295	Xeroderma pigmentosum-Cockayne syndrome complex			158
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	ERCC5 CL E G H	2073	3437	ORPHA:910	Xeroderma pigmentosum			83
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	ERCC5 CL E G H	2073	3437	ORPHA:220295	Xeroderma pigmentosum-Cockayne syndrome complex			83
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	ERCC6 CL E G H	2074	3438	OMIM:214150	Cerebrooculofacioskeletal syndrome 1			199
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	ERCC6 CL E G H	2074	3438	ORPHA:90321	Cockayne syndrome type 1			199
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	ERCC6 CL E G H	2074	3438	ORPHA:90321	Cockayne syndrome type 1			199
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	ERCC6 CL E G H	2074	3438	ORPHA:90322	Cockayne syndrome type 2			199
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	ERCC6 CL E G H	2074	3438	ORPHA:90322	Cockayne syndrome type 2			199
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	ERCC6 CL E G H	2074	3438	ORPHA:90324	Cockayne syndrome type 3			199
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	ERCC6 CL E G H	2074	3438	ORPHA:90324	Cockayne syndrome type 3			199
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	ERCC6 CL E G H	2074	3438	OMIM:133540	Cockayne syndrome, type B			199
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	ERCC6 CL E G H	2074	3438	OMIM:133540	Cockayne syndrome, type B			199
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	ERCC6 CL E G H	2074	3438	OMIM:278800	De Sanctis-Cacchione syndrome			199
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	ERCC8 CL E G H	1161	3439	OMIM:216400	Cockayne syndrome A			55
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	ERCC8 CL E G H	1161	3439	OMIM:216400	Cockayne syndrome A			55
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	ERCC8 CL E G H	1161	3439	ORPHA:90321	Cockayne syndrome type 1			55
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	ERCC8 CL E G H	1161	3439	ORPHA:90321	Cockayne syndrome type 1			55
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	ERCC8 CL E G H	1161	3439	ORPHA:90322	Cockayne syndrome type 2			55
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	ERCC8 CL E G H	1161	3439	ORPHA:90322	Cockayne syndrome type 2			55
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	ERCC8 CL E G H	1161	3439	ORPHA:90324	Cockayne syndrome type 3			55
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	ERCC8 CL E G H	1161	3439	ORPHA:90324	Cockayne syndrome type 3			55
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	ERF CL E G H	2077	3444	ORPHA:207	Crouzon disease			12
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	ERLIN2 CL E G H	11160	1356	ORPHA:209951	Autosomal recessive spastic paraplegia type 18			18
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	ERLIN2 CL E G H	11160	1356	OMIM:611225	Spastic paraplegia 18, autosomal recessive			18
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	ERMARD CL E G H	55780	21056	ORPHA:75857	6q terminal deletion syndrome			36
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	ERMARD CL E G H	55780	21056	ORPHA:75857	6q terminal deletion syndrome			36
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	ERMARD CL E G H	55780	21056	OMIM:615544	Periventricular nodular heterotopia 6			36
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	ESCO2 CL E G H	157570	27230	ORPHA:3103	Roberts syndrome			92
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	EVC CL E G H	2121	3497	ORPHA:289	Ellis Van Creveld syndrome			209
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	EVC2 CL E G H	132884	19747	ORPHA:289	Ellis Van Creveld syndrome			137
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	EXOC8 CL E G H	149371	24659	OMIM:619076	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND BRAIN ATROPHY; NEDMISB			1
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	EXOSC1 CL E G H	51013	17286	OMIM:619304	PONTOCEREBELLAR HYPOPLASIA, TYPE 1F; PCH1F
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	EXOSC2 CL E G H	23404	17097	OMIM:617763	Short stature, hearing loss, retinitis pigmentosa, and distinctive facies
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	EXOSC2 CL E G H	23404	17097	OMIM:617763	Short stature, hearing loss, retinitis pigmentosa, and distinctive facies
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	EXOSC3 CL E G H	51010	17944	ORPHA:2254	Pontocerebellar hypoplasia type 1			38
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	EXOSC3 CL E G H	51010	17944	ORPHA:2254	Pontocerebellar hypoplasia type 1			38
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	EXOSC3 CL E G H	51010	17944	OMIM:614678	Pontocerebellar hypoplasia, type 1B			38
HP:0000496	HP:0000657	Oculomotor apraxia	1	EXOSC3 CL E G H	51010	17944	OMIM:614678	Pontocerebellar hypoplasia, type 1B	.		38
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	EXOSC3 CL E G H	51010	17944	OMIM:614678	Pontocerebellar hypoplasia, type 1B			38
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	EXOSC5 CL E G H	56915	24662	OMIM:619576	CEREBELLAR ATAXIA, BRAIN ABNORMALITIES, AND CARDIAC CONDUCTION DEFECTS; CABAC
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	EXOSC5 CL E G H	56915	24662	OMIM:619576	CEREBELLAR ATAXIA, BRAIN ABNORMALITIES, AND CARDIAC CONDUCTION DEFECTS; CABAC
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	EXOSC8 CL E G H	11340	17035	ORPHA:2254	Pontocerebellar hypoplasia type 1			4
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	EXOSC8 CL E G H	11340	17035	ORPHA:2254	Pontocerebellar hypoplasia type 1			4
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	EXOSC9 CL E G H	5393	9137	ORPHA:2254	Pontocerebellar hypoplasia type 1
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	EXOSC9 CL E G H	5393	9137	ORPHA:2254	Pontocerebellar hypoplasia type 1
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	EXOSC9 CL E G H	5393	9137	OMIM:618065	Pontocerebellar hypoplasia, type 1D
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	EXOSC9 CL E G H	5393	9137	OMIM:618065	Pontocerebellar hypoplasia, type 1D
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	EXT2 CL E G H	2132	3513	ORPHA:52022	Potocki-Shaffer syndrome			102
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	EXT2 CL E G H	2132	3513	ORPHA:52022	Potocki-Shaffer syndrome			102
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	EXT2 CL E G H	2132	3513	OMIM:616682	Seizures, scoliosis, and macrocephaly/microcephaly syndrome			102
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	EXTL3 CL E G H	2137	3518	ORPHA:508533	Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome			3
HP:0000496	HP:0000597	Ophthalmoparesis	1	EYS CL E G H	346007	21555	ORPHA:791	Retinitis pigmentosa			209
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	EYS CL E G H	346007	21555	ORPHA:791	Retinitis pigmentosa			209
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	EZH2 CL E G H	2146	3527	OMIM:277590	Weaver syndrome			81
HP:0000496	HP:0000597	Ophthalmoparesis	1	FA2H CL E G H	79152	21197	ORPHA:171629	Autosomal recessive spastic paraplegia type 35			76
HP:0000496	HP:0000657	Oculomotor apraxia	1	FA2H CL E G H	79152	21197	ORPHA:171629	Autosomal recessive spastic paraplegia type 35	HP:0040282 - Frequent		76
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	FA2H CL E G H	79152	21197	ORPHA:329308	Fatty acid hydroxylase-associated neurodegeneration			76
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	FA2H CL E G H	79152	21197	ORPHA:329308	Fatty acid hydroxylase-associated neurodegeneration			76
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	FA2H CL E G H	79152	21197	OMIM:612319	Spastic paraplegia 35, autosomal recessive			76
HP:0000496	HP:0000597	Ophthalmoparesis	1	FA2H CL E G H	79152	21197	OMIM:612319	Spastic paraplegia 35, autosomal recessive			76
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	FA2H CL E G H	79152	21197	OMIM:612319	Spastic paraplegia 35, autosomal recessive			76
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	FAM149B1 CL E G H	317662	29162	OMIM:618763	JOUBERT SYNDROME 36; JBTS36
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	FAM149B1 CL E G H	317662	29162	ORPHA:2754	Orofaciodigital syndrome type 6
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	FAM149B1 CL E G H	317662	29162	ORPHA:2754	Orofaciodigital syndrome type 6
HP:0000496	HP:0000597	Ophthalmoparesis	1	FAM161A CL E G H	84140	25808	ORPHA:791	Retinitis pigmentosa			56
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	FAM161A CL E G H	84140	25808	ORPHA:791	Retinitis pigmentosa			56
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	FAM50A CL E G H	9130	18786	OMIM:300261	Mental retardation syndrome, X-linked, Armfield type
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	FANCA CL E G H	2175	3582	OMIM:227650	Fanconi anemia			340
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	FANCA CL E G H	2175	3582	ORPHA:84	Fanconi anemia			340
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	FANCA CL E G H	2175	3582	ORPHA:84	Fanconi anemia			340
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	FANCB CL E G H	2187	3583	ORPHA:84	Fanconi anemia			58
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	FANCB CL E G H	2187	3583	ORPHA:84	Fanconi anemia			58
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	FANCC CL E G H	2176	3584	ORPHA:84	Fanconi anemia			410
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	FANCC CL E G H	2176	3584	ORPHA:84	Fanconi anemia			410
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	FANCC CL E G H	2176	3584	OMIM:227645	Fanconi anemia, complementation group C			410
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	FANCD2 CL E G H	2177	3585	ORPHA:84	Fanconi anemia			147
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	FANCD2 CL E G H	2177	3585	ORPHA:84	Fanconi anemia			147
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	FANCD2 CL E G H	2177	3585	OMIM:227646	Fanconi anemia, complementation group D2			147
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	FANCE CL E G H	2178	3586	ORPHA:84	Fanconi anemia			73
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	FANCE CL E G H	2178	3586	ORPHA:84	Fanconi anemia			73
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	FANCE CL E G H	2178	3586	OMIM:600901	Fanconi anemia, complementation group E			73
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	FANCF CL E G H	2188	3587	ORPHA:84	Fanconi anemia			87
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	FANCF CL E G H	2188	3587	ORPHA:84	Fanconi anemia			87
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	FANCG CL E G H	2189	3588	ORPHA:84	Fanconi anemia			73
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	FANCG CL E G H	2189	3588	ORPHA:84	Fanconi anemia			73
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	FANCI CL E G H	55215	25568	ORPHA:84	Fanconi anemia			157
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	FANCI CL E G H	55215	25568	ORPHA:84	Fanconi anemia			157
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	FANCL CL E G H	55120	20748	ORPHA:84	Fanconi anemia			53
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	FANCL CL E G H	55120	20748	ORPHA:84	Fanconi anemia			53
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	FANCM CL E G H	57697	23168	ORPHA:84	Fanconi anemia			107
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	FANCM CL E G H	57697	23168	ORPHA:84	Fanconi anemia			107
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	FAR1 CL E G H	84188	26222	ORPHA:447753	Autosomal dominant spastic paraplegia type 9A			7
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	FARS2 CL E G H	10667	21062	ORPHA:466722	Autosomal recessive spastic paraplegia type 77			36
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	FASTKD2 CL E G H	22868	29160	OMIM:618855	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 44; COXPD44			122
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	FAT2 CL E G H	2196	3596	OMIM:617769	Spinocerebellar ataxia 45			2
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	FBLN5 CL E G H	10516	3602	ORPHA:90348	Autosomal dominant cutis laxa			63
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	FBN1 CL E G H	2200	3603	ORPHA:1885	Isolated ectopia lentis			1361
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	FBN1 CL E G H	2200	3603	OMIM:154700	Marfan syndrome			1361
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	FBN1 CL E G H	2200	3603	ORPHA:2462	Shprintzen-Goldberg syndrome			1361
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	FBN1 CL E G H	2200	3603	ORPHA:2833	Stiff skin syndrome			1361
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	FBXL3 CL E G H	26224	13599	OMIM:606220	Intellectual developmental disorder with short stature, facial anomalies, and speech defects
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	FBXL4 CL E G H	26235	13601	OMIM:615471	Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)			384
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	FBXO11 CL E G H	80204	13590	OMIM:618089	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities			7
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	FBXO28 CL E G H	23219	29046	OMIM:619777	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100
HP:0000496	HP:0000570	Abnormal saccadic eye movements	1	FBXO7 CL E G H	25793	13586	OMIM:260300	Parkinson disease 15, autosomal recessive early-onset			36
HP:0000496	HP:0000570	Abnormal saccadic eye movements	1	FBXO7 CL E G H	25793	13586	ORPHA:171695	Parkinsonian-pyramidal syndrome			36
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	FBXW11 CL E G H	23291	13607	OMIM:618914	NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME; NEDJED
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	FBXW7 CL E G H	55294	16712	OMIM:620012				22
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	FCSK CL E G H	197258	29500	OMIM:618324	Congenital disorder of glycosylation with defective fucosylation 2
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	FCSK CL E G H	197258	29500	OMIM:618324	Congenital disorder of glycosylation with defective fucosylation 2
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	FDX2 CL E G H	112812	30546	OMIM:251900	Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	FDXR CL E G H	2232	3642	OMIM:617717	Auditory neuropathy and optic atrophy
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	FDXR CL E G H	2232	3642	ORPHA:543470	Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	FEZF1 CL E G H	389549	22788	ORPHA:478	Kallmann syndrome			2
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	FGD1 CL E G H	2245	3663	OMIM:305400	Aarskog-Scott syndrome			62
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	FGD1 CL E G H	2245	3663	ORPHA:915	Aarskog-Scott syndrome			62
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	FGF10 CL E G H	2255	3666	ORPHA:2363	Lacrimoauriculodentodigital syndrome			17
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	FGF12 CL E G H	2257	3668	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040284 - Very rare		3
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	FGF13 CL E G H	2258	3670	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040284 - Very rare		1
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	FGF14 CL E G H	2259	3671	OMIM:193003	Nystagmus 4, congenital, autosomal dominant			47
HP:0000496	HP:0000617	Abnormality of ocular smooth pursuit	1	FGF14 CL E G H	2259	3671	OMIM:193003	Nystagmus 4, congenital, autosomal dominant			47
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	FGF14 CL E G H	2259	3671	OMIM:193003	Nystagmus 4, congenital, autosomal dominant			47
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	FGF14 CL E G H	2259	3671	ORPHA:98764	Spinocerebellar ataxia type 27			47
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	FGF14 CL E G H	2259	3671	ORPHA:98764	Spinocerebellar ataxia type 27			47
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	FGF17 CL E G H	8822	3673	ORPHA:478	Kallmann syndrome			3
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	FGF3 CL E G H	2248	3681	ORPHA:90024	Deafness with labyrinthine aplasia, microtia, and microdontia			18
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	FGF8 CL E G H	2253	3686	ORPHA:478	Kallmann syndrome			17
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	FGF8 CL E G H	2253	3686	ORPHA:280200	Microform holoprosencephaly			17
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	FGFR1 CL E G H	2260	3688	ORPHA:478	Kallmann syndrome			172
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	FGFR1 CL E G H	2260	3688	ORPHA:280200	Microform holoprosencephaly			172
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	FGFR1 CL E G H	2260	3688	OMIM:101600	Pfeiffer syndrome			172
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	FGFR1 CL E G H	2260	3688	ORPHA:3157	Septo-optic dysplasia spectrum			172
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	FGFR1 CL E G H	2260	3688	ORPHA:3157	Septo-optic dysplasia spectrum			172
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	FGFR2 CL E G H	2263	3689	OMIM:101200	Apert syndrome			175
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	FGFR2 CL E G H	2263	3689	ORPHA:87	Apert syndrome			175
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	FGFR2 CL E G H	2263	3689	ORPHA:207	Crouzon disease			175
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	FGFR2 CL E G H	2263	3689	OMIM:123500	Crouzon syndrome			175
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	FGFR2 CL E G H	2263	3689	ORPHA:1540	Jackson-Weiss syndrome			175
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	FGFR2 CL E G H	2263	3689	ORPHA:2363	Lacrimoauriculodentodigital syndrome			175
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	FGFR2 CL E G H	2263	3689	OMIM:101600	Pfeiffer syndrome			175
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	FGFR2 CL E G H	2263	3689	ORPHA:794	Saethre-Chotzen syndrome			175
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	FGFR2 CL E G H	2263	3689	OMIM:101400	Saethre-Chotzen syndrome			175
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	FGFR3 CL E G H	2261	3690	OMIM:616482	Achondroplasia, severe, with developmental delay and acanthosis nigricans			145
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	FGFR3 CL E G H	2261	3690	ORPHA:93262	Crouzon syndrome-acanthosis nigricans syndrome			145
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	FGFR3 CL E G H	2261	3690	ORPHA:2363	Lacrimoauriculodentodigital syndrome			145
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	FGFR3 CL E G H	2261	3690	OMIM:602849	Muenke syndrome			145
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	FGFR3 CL E G H	2261	3690	ORPHA:794	Saethre-Chotzen syndrome			145
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	FGFRL1 CL E G H	53834	3693	OMIM:194190	Wolf-Hirschhorn syndrome
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	FGFRL1 CL E G H	53834	3693	OMIM:194190	Wolf-Hirschhorn syndrome
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	FIBP CL E G H	9158	3705	ORPHA:500095	Tall stature-intellectual disability-renal anomalies syndrome			2
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	FIBP CL E G H	9158	3705	OMIM:617107	Thauvin-Robinet-Faivre syndrome			2
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	FIG4 CL E G H	9896	16873	ORPHA:208441	Bilateral parasagittal parieto-occipital polymicrogyria			111
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	FKRP CL E G H	79147	17997	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement			157
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	FKRP CL E G H	79147	17997	ORPHA:370968	Congenital muscular dystrophy with intellectual disability			157
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	FKRP CL E G H	79147	17997	ORPHA:588	Muscle-eye-brain disease			157
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	FKTN CL E G H	2218	3622	ORPHA:588	Muscle-eye-brain disease			184
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	FKTN CL E G H	2218	3622	OMIM:253800	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4			184
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	FLI1 CL E G H	2313	3749	ORPHA:2308	Jacobsen syndrome			8
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	FLII CL E G H	2314	3750	ORPHA:819	Smith-Magenis syndrome
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	FLNA CL E G H	2316	3754	OMIM:300049	Heterotopia, periventricular, X-linked dominant			493
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	FLNA CL E G H	2316	3754	OMIM:309350	Melnick-Needles syndrome			493
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	FLRT1 CL E G H	23769	3760	ORPHA:320406	Spastic paraplegia-optic atrophy-neuropathy syndrome
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	FLRT3 CL E G H	23767	3762	ORPHA:478	Kallmann syndrome			4
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	FMR1 CL E G H	2332	3775	ORPHA:908	Fragile X syndrome			30
HP:0000496	HP:0000617	Abnormality of ocular smooth pursuit	1	FMR1 CL E G H	2332	3775	OMIM:300623	Fragile X tremor/ataxia syndrome			30
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	FMR1 CL E G H	2332	3775	OMIM:300623	Fragile X tremor/ataxia syndrome			30
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	FMR1 CL E G H	2332	3775	ORPHA:449291	Symptomatic form of fragile X syndrome in female carriers			30
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	FN1 CL E G H	2335	3778	ORPHA:93315	Spondylometaphyseal dysplasia, 'corner fracture' type			9
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	FOCAD CL E G H	54914	23377	OMIM:619991				3
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	FOXC1 CL E G H	2296	3800	ORPHA:250923	Isolated aniridia			63
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	FOXC1 CL E G H	2296	3800	ORPHA:708	Peters anomaly			63
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	FOXC1 CL E G H	2296	3800	ORPHA:708	Peters anomaly			63
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	FOXE3 CL E G H	2301	3808	OMIM:610256	Anterior segment dysgenesis 2			23
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	FOXE3 CL E G H	2301	3808	ORPHA:708	Peters anomaly			23
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	FOXE3 CL E G H	2301	3808	ORPHA:708	Peters anomaly			23
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	FOXH1 CL E G H	8928	3814	ORPHA:280200	Microform holoprosencephaly			48
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	FOXL2 CL E G H	668	1092	OMIM:110100	Blepharophimosis, epicanthus inversus, and ptosis			92
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	FOXL2 CL E G H	668	1092	OMIM:110100	Blepharophimosis, epicanthus inversus, and ptosis			92
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	FOXL2 CL E G H	668	1092	ORPHA:572333	Blepharophimosis-ptosis-epicanthus inversus syndrome plus			92
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	FOXL2 CL E G H	668	1092	ORPHA:572333	Blepharophimosis-ptosis-epicanthus inversus syndrome plus			92
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	FOXP1 CL E G H	27086	3823	ORPHA:391372	Intellectual disability-severe speech delay-mild dysmorphism syndrome			184
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	FOXP1 CL E G H	27086	3823	ORPHA:391372	Intellectual disability-severe speech delay-mild dysmorphism syndrome			184
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	FOXP1 CL E G H	27086	3823	OMIM:613670	Mental retardation with language impairment and with or without autistic features			184
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	FOXP1 CL E G H	27086	3823	OMIM:613670	Mental retardation with language impairment and with or without autistic features			184
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	FOXRED1 CL E G H	55572	26927	ORPHA:2609	Isolated complex I deficiency			61
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	FOXRED1 CL E G H	55572	26927	ORPHA:2609	Isolated complex I deficiency			61
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	FOXRED1 CL E G H	55572	26927	ORPHA:255241	Leigh syndrome with leukodystrophy			61
HP:0000496	HP:0000597	Ophthalmoparesis	1	FOXRED1 CL E G H	55572	26927	ORPHA:255241	Leigh syndrome with leukodystrophy			61
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	FOXRED1 CL E G H	55572	26927	ORPHA:255241	Leigh syndrome with leukodystrophy			61
HP:0000496	HP:0000597	Ophthalmoparesis	1	FRG1 CL E G H	2483	3954	OMIM:158900	Facioscapulohumeral muscular dystrophy 1			1
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	FRMD4A CL E G H	55691	25491	OMIM:616819	Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia			1
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	FRMD4A CL E G H	55691	25491	ORPHA:466688	Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome			1
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	FRMD5 CL E G H	84978	28214	OMIM:620094
HP:0000496	HP:0000570	Abnormal saccadic eye movements	1	FRMD5 CL E G H	84978	28214	OMIM:620094
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	FRMD5 CL E G H	84978	28214	OMIM:620094
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	FRMD7 CL E G H	90167	8079	OMIM:310700	Nystagmus 1, congenital, X-linked			38
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	FRMPD4 CL E G H	9758	29007	OMIM:300983	MENTAL RETARDATION, X-LINKED 104; MRX104			32
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	FRMPD4 CL E G H	9758	29007	OMIM:300983	MENTAL RETARDATION, X-LINKED 104; MRX104			32
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	FRRS1L CL E G H	23732	1362	OMIM:616981	Epileptic encephalopathy, early infantile, 37			4
HP:0000496	HP:0000597	Ophthalmoparesis	1	FSCN2 CL E G H	25794	3960	ORPHA:791	Retinitis pigmentosa			26
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	FSCN2 CL E G H	25794	3960	ORPHA:791	Retinitis pigmentosa			26
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	FTL CL E G H	2512	3999	ORPHA:157846	Neuroferritinopathy			33
HP:0000496	HP:0000617	Abnormality of ocular smooth pursuit	1	FTL CL E G H	2512	3999	ORPHA:157846	Neuroferritinopathy			33
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	FUS CL E G H	2521	4010	ORPHA:275872	Frontotemporal dementia with motor neuron disease			105
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	FUS CL E G H	2521	4010	ORPHA:300605	Juvenile amyotrophic lateral sclerosis			105
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	FUS CL E G H	2521	4010	ORPHA:300605	Juvenile amyotrophic lateral sclerosis			105
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	FUZ CL E G H	80199	26219	ORPHA:1136	Arnold-Chiari malformation type II			3
HP:0000496	HP:0000570	Abnormal saccadic eye movements	1	FXN CL E G H	2395	3951	ORPHA:95	Friedreich ataxia	HP:0040282 - Frequent		18
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	FXN CL E G H	2395	3951	ORPHA:95	Friedreich ataxia			18
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	FXN CL E G H	2395	3951	OMIM:229300	Friedreich ataxia 1			18
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	FZD2 CL E G H	2535	4040	ORPHA:3107	Autosomal dominant Robinow syndrome
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	FZD4 CL E G H	8322	4042	OMIM:133780	Exudative vitreoretinopathy 1			109
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	FZD4 CL E G H	8322	4042	ORPHA:91495	Persistent hyperplastic primary vitreous			109
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	FZR1 CL E G H	51343	24824	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040284 - Very rare
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	GABBR2 CL E G H	9568	4507	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040284 - Very rare		5
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	GABRA1 CL E G H	2554	4075	ORPHA:64280	Childhood absence epilepsy			134
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	GABRA2 CL E G H	2555	4076	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040284 - Very rare		4
HP:0000496	HP:0000597	Ophthalmoparesis	1	GABRA3 CL E G H	2556	4077	ORPHA:79102	Thyrotoxic periodic paralysis	HP:0040284 - Very rare
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	GABRA5 CL E G H	2558	4079	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040284 - Very rare
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	GABRB2 CL E G H	2561	4082	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040284 - Very rare		44
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	GABRB3 CL E G H	2562	4083	ORPHA:64280	Childhood absence epilepsy			57
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	GABRD CL E G H	2563	4084	ORPHA:1606	1p36 deletion syndrome			10
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	GABRD CL E G H	2563	4084	ORPHA:1606	1p36 deletion syndrome			10
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	GABRG2 CL E G H	2566	4087	ORPHA:64280	Childhood absence epilepsy			139
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	GABRG2 CL E G H	2566	4087	OMIM:618396	Epileptic encephalopathy, early infantile, 74			139
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	GABRG2 CL E G H	2566	4087	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040284 - Very rare		139
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	GALC CL E G H	2581	4115	OMIM:245200	Krabbe disease			160
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	GALC CL E G H	2581	4115	ORPHA:206443	Late-infantile/juvenile Krabbe disease			160
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	GALNT2 CL E G H	2590	4124	OMIM:618885	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt; CDG2T
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	GALNT2 CL E G H	2590	4124	OMIM:618885	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt; CDG2T
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	GAN CL E G H	8139	4137	OMIM:256850	Giant axonal neuropathy 1, autosomal recessive			121
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	GAN CL E G H	8139	4137	OMIM:256850	Giant axonal neuropathy 1, autosomal recessive			121
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	GAS1 CL E G H	2619	4165	ORPHA:280200	Microform holoprosencephaly			2
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	GATA1 CL E G H	2623	4170	ORPHA:124	Blackfan-Diamond anemia			29
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	GATA1 CL E G H	2623	4170	OMIM:190685	Down syndrometrisomy 21, included			29
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	GATA3 CL E G H	2625	4172	OMIM:146255	Hypoparathyroidism, sensorineural deafness, and renal dysplasia			83
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	GATA4 CL E G H	2626	4173	ORPHA:251071	8p23.1 microdeletion syndrome			87
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	GATAD2B CL E G H	57459	30778	OMIM:615074	Mental retardation, autosomal dominant 18			33
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	GATAD2B CL E G H	57459	30778	ORPHA:363686	Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome			33
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	GBA1 CL E G H	2629	4177	ORPHA:77260	Gaucher disease type 2
HP:0000496	HP:0000597	Ophthalmoparesis	1	GBA1 CL E G H	2629	4177	ORPHA:77260	Gaucher disease type 2
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	GBA1 CL E G H	2629	4177	ORPHA:77261	Gaucher disease type 3
HP:0000496	HP:0000597	Ophthalmoparesis	1	GBA1 CL E G H	2629	4177	ORPHA:77261	Gaucher disease type 3
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	GBA1 CL E G H	2629	4177	OMIM:608013	Gaucher disease, perinatal lethal
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	GBA1 CL E G H	2629	4177	OMIM:230900	Gaucher disease, type II
HP:0000496	HP:0000657	Oculomotor apraxia	1	GBA1 CL E G H	2629	4177	OMIM:230900	Gaucher disease, type II	.
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	GBA1 CL E G H	2629	4177	OMIM:231000	Gaucher disease, type III
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	GBA1 CL E G H	2629	4177	OMIM:231005	Gaucher disease, type IIIC
HP:0000496	HP:0000570	Abnormal saccadic eye movements	1	GBA1 CL E G H	2629	4177	OMIM:231005	Gaucher disease, type IIIC
HP:0000496	HP:0000597	Ophthalmoparesis	1	GBA1 CL E G H	2629	4177	OMIM:231005	Gaucher disease, type IIIC
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	GBA1 CL E G H	2629	4177	OMIM:231005	Gaucher disease, type IIIC
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	GBA1 CL E G H	2629	4177	ORPHA:2072	Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
HP:0000496	HP:0000570	Abnormal saccadic eye movements	1	GBA1 CL E G H	2629	4177	ORPHA:2072	Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome	HP:0040284 - Very rare
HP:0000496	HP:0000597	Ophthalmoparesis	1	GBA1 CL E G H	2629	4177	ORPHA:2072	Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
HP:0000496	HP:0000657	Oculomotor apraxia	1	GBA1 CL E G H	2629	4177	ORPHA:2072	Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome	HP:0040283 - Occasional
HP:0000496	HP:0025404	Abnormal visual fixation	1	GBA1 CL E G H	2629	4177	ORPHA:2072	Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome	HP:0040284 - Very rare
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	GBA1 CL E G H	2629	4177	ORPHA:2072	Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
HP:0000496	HP:0000570	Abnormal saccadic eye movements	1	GBA2 CL E G H	57704	18986	ORPHA:352641	Autosomal recessive cerebellar ataxia with late-onset spasticity	HP:0040282 - Frequent		30
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	GBA2 CL E G H	57704	18986	ORPHA:352641	Autosomal recessive cerebellar ataxia with late-onset spasticity			30
HP:0000496	HP:0000617	Abnormality of ocular smooth pursuit	1	GBA2 CL E G H	57704	18986	ORPHA:320391	Autosomal recessive spastic paraplegia type 46			30
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	GBA2 CL E G H	57704	18986	ORPHA:320391	Autosomal recessive spastic paraplegia type 46			30
HP:0000496	HP:0000617	Abnormality of ocular smooth pursuit	1	GBA2 CL E G H	57704	18986	OMIM:614409	Spastic paraplegia 46, autosomal recessive			30
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	GBA2 CL E G H	57704	18986	OMIM:614409	Spastic paraplegia 46, autosomal recessive			30
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	GCH1 CL E G H	2643	4193	ORPHA:98808	Autosomal dominant dopa-responsive dystonia			86
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	GCH1 CL E G H	2643	4193	OMIM:128230	Dystonia, DOPA-responsive, with or without hyperphenylalaninemia			86
HP:0000496	HP:0000570	Abnormal saccadic eye movements	1	GDAP2 CL E G H	54834	18010	OMIM:618369	Spinocerebellar ataxia, autosomal recessive 27
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	GDAP2 CL E G H	54834	18010	OMIM:618369	Spinocerebellar ataxia, autosomal recessive 27
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	GDF3 CL E G H	9573	4218	OMIM:613703	MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 6; MCOPCB6			7
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	GDF5 CL E G H	8200	4220	ORPHA:3250	Proximal symphalangism			52
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	GDF6 CL E G H	392255	4221	ORPHA:65	Leber congenital amaurosis			64
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	GDF6 CL E G H	392255	4221	OMIM:613703	MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 6; MCOPCB6			64
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	GFAP CL E G H	2670	4235	OMIM:203450	Alexander disease			188
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	GFAP CL E G H	2670	4235	ORPHA:363722	Alexander disease type II			188
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	GFER CL E G H	2671	4236	ORPHA:330054	Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome			14
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	GFM1 CL E G H	85476	13780	OMIM:609060	Combined oxidative phosphorylation deficiency 1			85
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	GFPT1 CL E G H	2673	4241	OMIM:608931	Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency			128
HP:0000496	HP:0000597	Ophthalmoparesis	1	GFPT1 CL E G H	2673	4241	OMIM:608931	Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency	.		128
HP:0000496	HP:0000597	Ophthalmoparesis	1	GFPT1 CL E G H	2673	4241	OMIM:610542	Myasthenic syndrome, congenital, with tubular aggregates 1	.		128
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	GGCX CL E G H	2677	4247	ORPHA:436274	Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa			129
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	GGT1 CL E G H	2678	4250	OMIM:231950	GLUTATHIONURIA
HP:0000496	HP:0000597	Ophthalmoparesis	1	GIPC1 CL E G H	10755	1226	ORPHA:98897	Oculopharyngodistal myopathy	HP:0040281 - Very frequent
HP:0000496	HP:0000597	Ophthalmoparesis	1	GIPC1 CL E G H	10755	1226	OMIM:618940	OCULOPHARYNGODISTAL MYOPATHY 2; OPDM2
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	GJA1 CL E G H	2697	4274	ORPHA:2710	Oculodentodigital dysplasia			68
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	GJA1 CL E G H	2697	4274	ORPHA:2710	Oculodentodigital dysplasia			68
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	GJA5 CL E G H	2702	4279	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb			39
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	GJA8 CL E G H	2703	4281	ORPHA:1377	Cataract-microcornea syndrome			34
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	GJA8 CL E G H	2703	4281	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb			34
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	GJB1 CL E G H	2705	4283	OMIM:302800	Charcot-Marie-Tooth neuropathy, X-linked dominant, 1			107
HP:0000496	HP:0000617	Abnormality of ocular smooth pursuit	1	GJB1 CL E G H	2705	4283	ORPHA:1175	X-linked progressive cerebellar ataxia			107
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	GJB1 CL E G H	2705	4283	ORPHA:1175	X-linked progressive cerebellar ataxia			107
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	GJB6 CL E G H	10804	4288	OMIM:129500	Clouston syndrome			56
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	GJC2 CL E G H	57165	17494	ORPHA:320401	Autosomal recessive spastic paraplegia type 44			37
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	GJC2 CL E G H	57165	17494	OMIM:608804	Leukodystrophy, hypomyelinating, 2			37
HP:0000496	HP:0000570	Abnormal saccadic eye movements	1	GJC2 CL E G H	57165	17494	OMIM:613206	Spastic paraplegia 44, autosomal recessive			37
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	GK CL E G H	2710	4289	OMIM:307030	Glycerol kinase deficiency			13
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	GLI1 CL E G H	2735	4317	ORPHA:289	Ellis Van Creveld syndrome			1
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	GLI2 CL E G H	2736	4318	ORPHA:280200	Microform holoprosencephaly			173
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	GLRB CL E G H	2743	4329	OMIM:614619	Hyperekplexia 2			46
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	GLRX5 CL E G H	51218	20134	ORPHA:401866	Childhood-onset spasticity with hyperglycinemia			17
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	GLRX5 CL E G H	51218	20134	OMIM:616859	Spasticity, childhood-onset, with hyperglycinemia			17
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	GLRX5 CL E G H	51218	20134	OMIM:616859	Spasticity, childhood-onset, with hyperglycinemia			17
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	GM2A CL E G H	2760	4367	ORPHA:309246	GM2 gangliosidosis, AB variant	HP:0040282 - Frequent		69
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	GMNN CL E G H	51053	17493	OMIM:616835	Meier-Gorlin syndrome 6			3
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	GMPPA CL E G H	29926	22923	OMIM:615510	Alacrima, achalasia, and mental retardation syndrome			24
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	GMPPA CL E G H	29926	22923	OMIM:615510	Alacrima, achalasia, and mental retardation syndrome			24
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	GMPPB CL E G H	29925	22932	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement			34
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	GMPPB CL E G H	29925	22932	ORPHA:370968	Congenital muscular dystrophy with intellectual disability			34
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	GMPPB CL E G H	29925	22932	ORPHA:363623	GMPPB-related limb-girdle muscular dystrophy R19			34
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	GMPPB CL E G H	29925	22932	ORPHA:588	Muscle-eye-brain disease			34
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	GMPPB CL E G H	29925	22932	OMIM:615351	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14			34
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	GMPPB CL E G H	29925	22932	OMIM:615351	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14			34
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	GMPPB CL E G H	29925	22932	OMIM:615352	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14			34
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	GNA14 CL E G H	9630	4382	ORPHA:1063	Tufted angioma
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	GNAO1 CL E G H	2775	4389	ORPHA:1934	Early infantile epileptic encephalopathy			36
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	GNAQ CL E G H	2776	4390	ORPHA:3205	Sturge-Weber syndrome			7
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	GNAS CL E G H	2778	4392	ORPHA:79443	Pseudohypoparathyroidism type 1A			101
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	GNAS CL E G H	2778	4392	ORPHA:79443	Pseudohypoparathyroidism type 1A			101
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	GNAS CL E G H	2778	4392	ORPHA:94089	Pseudohypoparathyroidism type 1B			101
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	GNAS CL E G H	2778	4392	ORPHA:79444	Pseudohypoparathyroidism type 1C			101
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	GNAS CL E G H	2778	4392	OMIM:103580	Pseudohypoparathyroidism, type IA			101
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	GNAS CL E G H	2778	4392	OMIM:612462	Pseudohypoparathyroidism, type IC			101
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	GNAS CL E G H	2778	4392	OMIM:612463	PSEUDOPSEUDOHYPOPARATHYROIDISM			101
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	GNAT1 CL E G H	2779	4393	ORPHA:215	Congenital stationary night blindness			39
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	GNAT1 CL E G H	2779	4393	ORPHA:215	Congenital stationary night blindness			39
HP:0000496	HP:0031705	Compensatory head posture	1	GNAT1 CL E G H	2779	4393	ORPHA:215	Congenital stationary night blindness	HP:0040283 - Occasional		39
HP:0000496	HP:0025404	Abnormal visual fixation	1	GNAT2 CL E G H	2780	4394	ORPHA:49382	Achromatopsia			19
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	GNAT2 CL E G H	2780	4394	ORPHA:49382	Achromatopsia			19
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	GNAT2 CL E G H	2780	4394	OMIM:613856	ACHROMATOPSIA 4; ACHM4			19
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	GNB1 CL E G H	2782	4396	ORPHA:488613	Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome			12
HP:0000496	HP:0000617	Abnormality of ocular smooth pursuit	1	GNB1 CL E G H	2782	4396	ORPHA:488613	Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome			12
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	GNB1 CL E G H	2782	4396	ORPHA:488613	Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome			12
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	GNB1 CL E G H	2782	4396	OMIM:616973	Mental retardation, autosomal dominant 42			12
HP:0000496	HP:0000617	Abnormality of ocular smooth pursuit	1	GNB1 CL E G H	2782	4396	OMIM:616973	Mental retardation, autosomal dominant 42			12
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	GNB1 CL E G H	2782	4396	OMIM:616973	Mental retardation, autosomal dominant 42			12
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	GNB3 CL E G H	2784	4400	ORPHA:215	Congenital stationary night blindness			5
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	GNB3 CL E G H	2784	4400	ORPHA:215	Congenital stationary night blindness			5
HP:0000496	HP:0031705	Compensatory head posture	1	GNB3 CL E G H	2784	4400	ORPHA:215	Congenital stationary night blindness	HP:0040283 - Occasional		5
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	GNB5 CL E G H	10681	4401	ORPHA:542306	GNB5-related intellectual disability-cardiac arrhythmia syndrome			7
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	GNB5 CL E G H	10681	4401	OMIM:617173	Intellectual developmental disorder with cardiac arrhythmia			7
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	GNB5 CL E G H	10681	4401	OMIM:617182	Language delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmia			7
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome			8
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	GPAA1 CL E G H	8733	4446	OMIM:617810	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15; GPIBD15
HP:0000496	HP:0000657	Oculomotor apraxia	1	GPAA1 CL E G H	8733	4446	ORPHA:529665	Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome	HP:0040282 - Frequent
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	GPAA1 CL E G H	8733	4446	ORPHA:529665	Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	GPR143 CL E G H	4935	20145	OMIM:300500	Albinism, ocular, type I			64
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	GPR143 CL E G H	4935	20145	OMIM:300814	Nystagmus 6, congenital, X-linked			64
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	GPR143 CL E G H	4935	20145	ORPHA:54	X-linked recessive ocular albinism			64
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	GPR143 CL E G H	4935	20145	ORPHA:54	X-linked recessive ocular albinism			64
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	GPR179 CL E G H	440435	31371	ORPHA:215	Congenital stationary night blindness			124
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	GPR179 CL E G H	440435	31371	ORPHA:215	Congenital stationary night blindness			124
HP:0000496	HP:0031705	Compensatory head posture	1	GPR179 CL E G H	440435	31371	ORPHA:215	Congenital stationary night blindness	HP:0040283 - Occasional		124
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	GPR179 CL E G H	440435	31371	OMIM:614565	Night blindness, congenital stationary, type 1E			124
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	GPR179 CL E G H	440435	31371	OMIM:614565	Night blindness, congenital stationary, type 1E			124
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	GRHL2 CL E G H	79977	2799	ORPHA:98973	Posterior polymorphous corneal dystrophy			33
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	GRIA1 CL E G H	2890	4571	OMIM:619931				3
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	GRIA4 CL E G H	2893	4574	OMIM:617864	Neurodevelopmental disorder with or without seizures and gait abnormalities
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	GRIA4 CL E G H	2893	4574	OMIM:617864	Neurodevelopmental disorder with or without seizures and gait abnormalities
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	GRID2 CL E G H	2895	4576	ORPHA:363432	Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency			18
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	GRID2 CL E G H	2895	4576	OMIM:616204	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18; SCAR18			18
HP:0000496	HP:0000657	Oculomotor apraxia	1	GRID2 CL E G H	2895	4576	OMIM:616204	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18; SCAR18			18
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	GRID2 CL E G H	2895	4576	OMIM:616204	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18; SCAR18			18
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	GRIK2 CL E G H	2898	4580	OMIM:619580	NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND ATAXIA AND WITH OR WITHOUT SEIZURES; NEDLAS			32
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	GRIK2 CL E G H	2898	4580	OMIM:619580	NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND ATAXIA AND WITH OR WITHOUT SEIZURES; NEDLAS			32
HP:0000496	HP:0000597	Ophthalmoparesis	1	GRIN1 CL E G H	2902	4584	ORPHA:208447	Bilateral generalized polymicrogyria			108
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	GRIN1 CL E G H	2902	4584	ORPHA:1934	Early infantile epileptic encephalopathy			108
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	GRIN1 CL E G H	2902	4584	OMIM:617820	Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive			108
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	GRIN2A CL E G H	2903	4585	ORPHA:289266	Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation	HP:0040283 - Occasional		434
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	GRIN2D CL E G H	2906	4588	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040284 - Very rare		2
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	GRK1 CL E G H	6011	10013	ORPHA:215	Congenital stationary night blindness			4
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	GRK1 CL E G H	6011	10013	ORPHA:215	Congenital stationary night blindness			4
HP:0000496	HP:0031705	Compensatory head posture	1	GRK1 CL E G H	6011	10013	ORPHA:215	Congenital stationary night blindness	HP:0040283 - Occasional		4
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	GRK1 CL E G H	6011	10013	ORPHA:75382	Oguchi disease			4
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	GRK1 CL E G H	6011	10013	ORPHA:75382	Oguchi disease			4
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	GRM1 CL E G H	2911	4593	ORPHA:324262	Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency			8
HP:0000496	HP:0000570	Abnormal saccadic eye movements	1	GRM1 CL E G H	2911	4593	ORPHA:324262	Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency			8
HP:0000496	HP:0011347	Abnormality of ocular abduction	1	GRM1 CL E G H	2911	4593	ORPHA:324262	Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency	HP:0040282 - Frequent		8
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	GRM1 CL E G H	2911	4593	ORPHA:324262	Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency			8
HP:0000496	HP:0000570	Abnormal saccadic eye movements	1	GRM1 CL E G H	2911	4593	OMIM:617691	SPINOCEREBELLAR ATAXIA 44; SCA44			8
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	GRM1 CL E G H	2911	4593	OMIM:614831	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13; SCAR13			8
HP:0000496	HP:0000570	Abnormal saccadic eye movements	1	GRM1 CL E G H	2911	4593	OMIM:614831	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13; SCAR13			8
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	GRM1 CL E G H	2911	4593	OMIM:614831	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13; SCAR13			8
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	GRM6 CL E G H	2916	4598	ORPHA:215	Congenital stationary night blindness			63
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	GRM6 CL E G H	2916	4598	ORPHA:215	Congenital stationary night blindness			63
HP:0000496	HP:0031705	Compensatory head posture	1	GRM6 CL E G H	2916	4598	ORPHA:215	Congenital stationary night blindness	HP:0040283 - Occasional		63
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	GRM7 CL E G H	2917	4599	ORPHA:1934	Early infantile epileptic encephalopathy			5
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	GTF2E2 CL E G H	2961	4651	ORPHA:33364	Trichothiodystrophy			2
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	GTF2E2 CL E G H	2961	4651	ORPHA:33364	Trichothiodystrophy			2
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	GTF2E2 CL E G H	2961	4651	OMIM:616943	Trichothiodystrophy 6, nonphotosensitive			2
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	GTF2E2 CL E G H	2961	4651	OMIM:616943	Trichothiodystrophy 6, nonphotosensitive			2
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	GTF2H5 CL E G H	404672	21157	ORPHA:33364	Trichothiodystrophy			3
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	GTF2H5 CL E G H	404672	21157	ORPHA:33364	Trichothiodystrophy			3
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome			1
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome			1
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome			1
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome			1
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome			1
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome			1
HP:0000496	HP:0000597	Ophthalmoparesis	1	GUCA1B CL E G H	2979	4679	ORPHA:791	Retinitis pigmentosa			36
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	GUCA1B CL E G H	2979	4679	ORPHA:791	Retinitis pigmentosa			36
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	GUCY2D CL E G H	3000	4689	OMIM:601777	Cone-Rod dystrophy 6			124
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	GUCY2D CL E G H	3000	4689	ORPHA:65	Leber congenital amaurosis			124
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	GUCY2D CL E G H	3000	4689	OMIM:204000	Leber congenital amaurosis, type I			124
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	H1-4 CL E G H	3008	4718	OMIM:617537	Rahman syndrome
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	H3-3A CL E G H	3020	4764	OMIM:619720	BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1; BRYLIB1
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	H3-3A CL E G H	3020	4764	OMIM:619720	BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1; BRYLIB1
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	H4C11 CL E G H	8363	4785	OMIM:619759	TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 2; TEVANED2
HP:0000496	HP:0000657	Oculomotor apraxia	1	H4C11 CL E G H	8363	4785	OMIM:619759	TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 2; TEVANED2
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	H4C3 CL E G H	8364	4787	OMIM:619758	TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 1; TEVANED1
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	H4C5 CL E G H	8367	4790	OMIM:619950
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	H4C9 CL E G H	8294	4793	OMIM:619951
HP:0000496	HP:0000597	Ophthalmoparesis	1	HACD1 CL E G H	9200	9639	ORPHA:2020	Congenital fiber-type disproportion myopathy			2
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	HACE1 CL E G H	57531	21033	OMIM:616756	Spastic paraplegia and psychomotor retardation with or without seizures			10
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	HACE1 CL E G H	57531	21033	ORPHA:464282	Spastic paraplegia-severe developmental delay-epilepsy syndrome			10
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	HADHA CL E G H	3030	4801	ORPHA:5	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency			99
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	HARS1 CL E G H	3035	4816	OMIM:614504	Usher syndrome, type IIIB
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	HCN1 CL E G H	348980	4845	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040284 - Very rare		54
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	HDAC8 CL E G H	55869	13315	ORPHA:199	Cornelia de Lange syndrome			37
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	HDAC8 CL E G H	55869	13315	ORPHA:199	Cornelia de Lange syndrome			37
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	HECW2 CL E G H	57520	29853	OMIM:617268	Neurodevelopmental disorder with hypotonia, seizures, and absent language			11
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	HECW2 CL E G H	57520	29853	OMIM:617268	Neurodevelopmental disorder with hypotonia, seizures, and absent language			11
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	HERC2 CL E G H	8924	4868	OMIM:615516	Mental retardation, autosomal recessive 38			38
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	HERC2 CL E G H	8924	4868	OMIM:176270	Prader-Willi syndrome			38
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	HESX1 CL E G H	8820	4877	ORPHA:478	Kallmann syndrome			21
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	HESX1 CL E G H	8820	4877	ORPHA:3157	Septo-optic dysplasia spectrum			21
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	HESX1 CL E G H	8820	4877	ORPHA:3157	Septo-optic dysplasia spectrum			21
HP:0000496	HP:0000597	Ophthalmoparesis	1	HGSNAT CL E G H	138050	26527	ORPHA:791	Retinitis pigmentosa			86
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	HGSNAT CL E G H	138050	26527	ORPHA:791	Retinitis pigmentosa			86
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	HHAT CL E G H	55733	18270	ORPHA:1422	Chondrodysplasia-disorder of sex development syndrome
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	HIBCH CL E G H	26275	4908	OMIM:250620	3-Hydroxyisobutyryl-Coa hydrolase deficiency			32
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	HIBCH CL E G H	26275	4908	OMIM:250620	3-Hydroxyisobutyryl-Coa hydrolase deficiency			32
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	HIBCH CL E G H	26275	4908	ORPHA:88639	Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency			32
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	HIBCH CL E G H	26275	4908	ORPHA:88639	Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency			32
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	HID1 CL E G H	283987	15736	OMIM:619983
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	HID1 CL E G H	283987	15736	OMIM:619983
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	HIKESHI CL E G H	51501	26938	OMIM:616881	Leukodystrophy, hypomyelinating, 13			3
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome			3
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	HK1 CL E G H	3098	4922	OMIM:618547	NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES; NEDVIBA			11
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	HK1 CL E G H	3098	4922	OMIM:618547	NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES; NEDVIBA			11
HP:0000496	HP:0000597	Ophthalmoparesis	1	HLA-B CL E G H	3106	4932	ORPHA:397	Giant cell arteritis	HP:0040282 - Frequent		4
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	HLA-B CL E G H	3106	4932	ORPHA:397	Giant cell arteritis			4
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	HLA-DQB1 CL E G H	3119	4944	OMIM:123400	Creutzfeldt-Jakob disease
HP:0000496	HP:0000597	Ophthalmoparesis	1	HLA-DRB1 CL E G H	3123	4948	ORPHA:397	Giant cell arteritis	HP:0040282 - Frequent		2
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	HLA-DRB1 CL E G H	3123	4948	ORPHA:397	Giant cell arteritis			2
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	HMGB3 CL E G H	3149	5004	OMIM:300915	Microphthalmia, syndromic 13			2
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	HMGB3 CL E G H	3149	5004	OMIM:300915	Microphthalmia, syndromic 13			2
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	HMX1 CL E G H	3166	5017	OMIM:612109	Oculoauricular syndrome			2
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	HMX1 CL E G H	3166	5017	OMIM:612109	Oculoauricular syndrome			2
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	HNRNPH1 CL E G H	3187	5041	OMIM:620083
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	HNRNPH1 CL E G H	3187	5041	OMIM:620083
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	HNRNPH2 CL E G H	3188	5042	OMIM:300986	MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE; MRXSB			3
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	HNRNPR CL E G H	10236	5047	OMIM:620073
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	HNRNPR CL E G H	10236	5047	OMIM:620073
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	HNRNPU CL E G H	3192	5048	ORPHA:238769	1q44 microdeletion syndrome			39
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	HOXA1 CL E G H	3198	5099	OMIM:601536	ATHABASKAN BRAINSTEM DYSGENESIS SYNDROME; ABDS			34
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	HOXA13 CL E G H	3209	5102	ORPHA:2438	Hand-foot-genital syndrome			11
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	HOXB1 CL E G H	3211	5111	OMIM:614744	Facial paresis, hereditary congenital, 3			2
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	HPDL CL E G H	84842	28242	OMIM:619026	NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE SPASTICITY AND BRAIN WHITE MATTER ABNORMALITIES; NEDSWMA
HP:0000496	HP:0000597	Ophthalmoparesis	1	HPDL CL E G H	84842	28242	OMIM:619026	NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE SPASTICITY AND BRAIN WHITE MATTER ABNORMALITIES; NEDSWMA
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	HPDL CL E G H	84842	28242	OMIM:619026	NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE SPASTICITY AND BRAIN WHITE MATTER ABNORMALITIES; NEDSWMA
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	HPS1 CL E G H	3257	5163	OMIM:203300	Hermansky-Pudlak syndrome 1			121
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	HPS3 CL E G H	84343	15597	OMIM:614072	Hermansky-Pudlak syndrome 3			67
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	HPS3 CL E G H	84343	15597	OMIM:614072	Hermansky-Pudlak syndrome 3			67
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	HPS4 CL E G H	89781	15844	OMIM:614073	Hermansky-Pudlak syndrome 4			123
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	HPS5 CL E G H	11234	17022	OMIM:614074	Hermansky-Pudlak syndrome 5			105
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	HPS5 CL E G H	11234	17022	OMIM:614074	Hermansky-Pudlak syndrome 5			105
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	HPS6 CL E G H	79803	18817	OMIM:614075	Hermansky-Pudlak syndrome 6			45
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	HPS6 CL E G H	79803	18817	OMIM:614075	Hermansky-Pudlak syndrome 6			45
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	HRAS CL E G H	3265	5173	OMIM:218040	Costello syndrome			113
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	HRAS CL E G H	3265	5173	ORPHA:3071	Costello syndrome			113
HP:0000496	HP:0000597	Ophthalmoparesis	1	HRAS CL E G H	3265	5173	OMIM:163200	Schimmelpenning-Feuerstein-Mims syndrome			113
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	HS6ST1 CL E G H	9394	5201	ORPHA:478	Kallmann syndrome			8
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	HSD17B10 CL E G H	3028	4800	ORPHA:391428	HSD10 disease, infantile type			19
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	HSD17B10 CL E G H	3028	4800	OMIM:300438	HSD10 mitochondrial disease			19
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	HSD17B4 CL E G H	3295	5213	OMIM:261515	D-bifunctional protein deficiency			98
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	HSD17B4 CL E G H	3295	5213	OMIM:261515	D-bifunctional protein deficiency			98
HP:0000496	HP:0007941	Limited extraocular movements	1	HSD17B4 CL E G H	3295	5213	OMIM:233400	Perrault syndrome 1	.		98
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	HSD17B4 CL E G H	3295	5213	OMIM:233400	Perrault syndrome 1			98
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	HSPD1 CL E G H	3329	5261	OMIM:612233	Leukodystrophy, hypomyelinating, 4			46
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	HSPD1 CL E G H	3329	5261	OMIM:612233	Leukodystrophy, hypomyelinating, 4			46
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	HSPG2 CL E G H	3339	5273	ORPHA:1606	1p36 deletion syndrome			345
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	HSPG2 CL E G H	3339	5273	ORPHA:1606	1p36 deletion syndrome			345
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	HSPG2 CL E G H	3339	5273	ORPHA:800	Schwartz-Jampel syndrome			345
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	HTRA1 CL E G H	5654	9476	OMIM:600142	Autosomal recessive cerebral arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL)			34
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	HTT CL E G H	3064	4851	ORPHA:248111	Juvenile Huntington disease	HP:0040282 - Frequent		12
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	HUWE1 CL E G H	10075	30892	OMIM:309590	Mental retardation, x-linked syndromic, Turner type			98
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	HUWE1 CL E G H	10075	30892	OMIM:309590	Mental retardation, x-linked syndromic, Turner type			98
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	HYLS1 CL E G H	219844	26558	ORPHA:475	Joubert syndrome			31
HP:0000496	HP:0000657	Oculomotor apraxia	1	HYLS1 CL E G H	219844	26558	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent		31
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	HYLS1 CL E G H	219844	26558	ORPHA:475	Joubert syndrome			31
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	IARS2 CL E G H	55699	29685	OMIM:616007	Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia			25
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	IARS2 CL E G H	55699	29685	OMIM:616007	Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia			25
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	IBA57 CL E G H	200205	27302	OMIM:615330	Multiple mitochondrial dysfunctions syndrome 3			16
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	IDH1 CL E G H	3417	5382	ORPHA:99646	Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria			15
HP:0000496	HP:0000597	Ophthalmoparesis	1	IDH3A CL E G H	3419	5384	ORPHA:791	Retinitis pigmentosa
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	IDH3A CL E G H	3419	5384	ORPHA:791	Retinitis pigmentosa
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	IDH3A CL E G H	3419	5384	OMIM:619007	RETINITIS PIGMENTOSA 90; RP90
HP:0000496	HP:0000597	Ophthalmoparesis	1	IDH3B CL E G H	3420	5385	ORPHA:791	Retinitis pigmentosa			30
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	IDH3B CL E G H	3420	5385	ORPHA:791	Retinitis pigmentosa			30
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	IFIH1 CL E G H	64135	18873	ORPHA:51	Aicardi-Goutières syndrome			28
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	IFIH1 CL E G H	64135	18873	OMIM:615846	Aicardi-Goutieres syndrome 7			28
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	IFRD1 CL E G H	3475	5456	ORPHA:98771	Spinocerebellar ataxia type 18			1
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	IFT122 CL E G H	55764	13556	ORPHA:1515	Cranioectodermal dysplasia			93
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	IFT122 CL E G H	55764	13556	OMIM:218330	Cranioectodermal dysplasia			93
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	IFT140 CL E G H	9742	29077	ORPHA:65	Leber congenital amaurosis			148
HP:0000496	HP:0000597	Ophthalmoparesis	1	IFT140 CL E G H	9742	29077	ORPHA:791	Retinitis pigmentosa			148
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	IFT140 CL E G H	9742	29077	ORPHA:791	Retinitis pigmentosa			148
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	IFT140 CL E G H	9742	29077	OMIM:266920	Short-rib thoracic dysplasia 9 with or without polydactyly			148
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	IFT172 CL E G H	26160	30391	ORPHA:110	Bardet-Biedl syndrome			48
HP:0000496	HP:0000597	Ophthalmoparesis	1	IFT172 CL E G H	26160	30391	ORPHA:791	Retinitis pigmentosa			48
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	IFT172 CL E G H	26160	30391	ORPHA:791	Retinitis pigmentosa			48
HP:0000496	HP:0000657	Oculomotor apraxia	1	IFT172 CL E G H	26160	30391	OMIM:615630	Short-Rib thoracic dysplasia 10 with or without polydactyly	HP:0040283 - Occasional		48
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	IFT27 CL E G H	11020	18626	ORPHA:110	Bardet-Biedl syndrome			1
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	IFT43 CL E G H	112752	29669	ORPHA:1515	Cranioectodermal dysplasia			11
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	IFT52 CL E G H	51098	15901	ORPHA:1515	Cranioectodermal dysplasia			4
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	IFT52 CL E G H	51098	15901	OMIM:617102	Short-Rib thoracic dysplasia 16 with or without polydactyly			4
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	IFT74 CL E G H	80173	21424	ORPHA:110	Bardet-Biedl syndrome			3
HP:0000496	HP:0000657	Oculomotor apraxia	1	IFT74 CL E G H	80173	21424	OMIM:619582	JOUBERT SYNDROME 40; JBTS40			3
HP:0000496	HP:0000597	Ophthalmoparesis	1	IFT88 CL E G H	8100	20606	ORPHA:791	Retinitis pigmentosa			3
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	IFT88 CL E G H	8100	20606	ORPHA:791	Retinitis pigmentosa			3
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	IGBP1 CL E G H	3476	5461	ORPHA:52055	Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome			5
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	IGBP1 CL E G H	3476	5461	OMIM:300472	CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA, AND MICROGNATHIA			5
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	IGF1R CL E G H	3480	5465	OMIM:270450	Insulin-Like growth factor I, resistance to			268
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	IKBKG CL E G H	8517	5961	ORPHA:464	Incontinentia pigmenti			52
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	IKBKG CL E G H	8517	5961	OMIM:308300	Incontinentia pigmenti			52
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	IL17RD CL E G H	54756	17616	ORPHA:478	Kallmann syndrome			9
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	IL1RAPL1 CL E G H	11141	5996	OMIM:300143	Mental retardation, X-linked 21			42
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	IMPDH1 CL E G H	3614	6052	ORPHA:65	Leber congenital amaurosis			52
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	IMPDH1 CL E G H	3614	6052	OMIM:613837	Leber congenital amaurosis 11			52
HP:0000496	HP:0000597	Ophthalmoparesis	1	IMPDH1 CL E G H	3614	6052	ORPHA:791	Retinitis pigmentosa			52
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	IMPDH1 CL E G H	3614	6052	ORPHA:791	Retinitis pigmentosa			52
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	IMPDH2 CL E G H	3615	6053	ORPHA:98808	Autosomal dominant dopa-responsive dystonia			1
HP:0000496	HP:0000597	Ophthalmoparesis	1	IMPG1 CL E G H	3617	6055	ORPHA:791	Retinitis pigmentosa			4
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	IMPG1 CL E G H	3617	6055	ORPHA:791	Retinitis pigmentosa			4
HP:0000496	HP:0000597	Ophthalmoparesis	1	IMPG2 CL E G H	50939	18362	ORPHA:791	Retinitis pigmentosa			120
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	IMPG2 CL E G H	50939	18362	ORPHA:791	Retinitis pigmentosa			120
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	INPP5E CL E G H	56623	21474	ORPHA:475	Joubert syndrome			111
HP:0000496	HP:0000657	Oculomotor apraxia	1	INPP5E CL E G H	56623	21474	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent		111
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	INPP5E CL E G H	56623	21474	ORPHA:475	Joubert syndrome			111
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	INPP5E CL E G H	56623	21474	OMIM:213300	Joubert syndrome 1			111
HP:0000496	HP:0000570	Abnormal saccadic eye movements	1	INPP5E CL E G H	56623	21474	OMIM:213300	Joubert syndrome 1	.		111
HP:0000496	HP:0000617	Abnormality of ocular smooth pursuit	1	INPP5E CL E G H	56623	21474	OMIM:213300	Joubert syndrome 1	.		111
HP:0000496	HP:0000657	Oculomotor apraxia	1	INPP5E CL E G H	56623	21474	OMIM:213300	Joubert syndrome 1			111
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	INPP5E CL E G H	56623	21474	ORPHA:1454	Joubert syndrome with hepatic defect			111
HP:0000496	HP:0000657	Oculomotor apraxia	1	INPP5E CL E G H	56623	21474	ORPHA:1454	Joubert syndrome with hepatic defect	HP:0040281 - Very frequent		111
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	INPP5E CL E G H	56623	21474	ORPHA:1454	Joubert syndrome with hepatic defect			111
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	INPP5E CL E G H	56623	21474	ORPHA:220493	Joubert syndrome with ocular defect			111
HP:0000496	HP:0000657	Oculomotor apraxia	1	INPP5E CL E G H	56623	21474	ORPHA:220493	Joubert syndrome with ocular defect	HP:0040281 - Very frequent		111
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	INPP5E CL E G H	56623	21474	ORPHA:220493	Joubert syndrome with ocular defect			111
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	INPP5K CL E G H	51763	33882	ORPHA:559	Marinesco-Sjögren syndrome			7
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	INPP5K CL E G H	51763	33882	ORPHA:559	Marinesco-Sjögren syndrome			7
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	INPP5K CL E G H	51763	33882	OMIM:617404	Muscular dystrophy, congenital, with cataracts and intellectual disability			7
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	INTS1 CL E G H	26173	24555	OMIM:618571	NEURODEVELOPMENTAL DISORDER WITH CATARACTS, POOR GROWTH, AND DYSMORPHIC FACIES; NDCAGF
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	IPW CL E G H	3653	6109	OMIM:176270	Prader-Willi syndrome
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	IQCB1 CL E G H	9657	28949	ORPHA:65	Leber congenital amaurosis			61
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	IQSEC2 CL E G H	23096	29059	OMIM:309530	Mental retardation, X-linked 1			119
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	IQSEC2 CL E G H	23096	29059	ORPHA:397933	Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome			119
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	IQSEC2 CL E G H	23096	29059	ORPHA:397933	Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome			119
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	IQSEC2 CL E G H	23096	29059	ORPHA:819	Smith-Magenis syndrome			119
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	IRF2BPL CL E G H	64207	14282	OMIM:618088	Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	IRF2BPL CL E G H	64207	14282	OMIM:618088	Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	ISCA2 CL E G H	122961	19857	OMIM:616370	Multiple mitochondrial dysfunctions syndrome 4			7
HP:0000496	HP:0000597	Ophthalmoparesis	1	ISCU CL E G H	23479	29882	OMIM:255125	Myopathy with exercise intolerance, Swedish type			19
HP:0000496	HP:0000597	Ophthalmoparesis	1	ITGA7 CL E G H	3679	6143	ORPHA:2020	Congenital fiber-type disproportion myopathy			127
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	ITPR1 CL E G H	3708	6180	OMIM:206700	Gillespie syndrome			177
HP:0000496	HP:0000570	Abnormal saccadic eye movements	1	ITPR1 CL E G H	3708	6180	OMIM:606658	Spinocerebellar ataxia 15			177
HP:0000496	HP:0000617	Abnormality of ocular smooth pursuit	1	ITPR1 CL E G H	3708	6180	OMIM:606658	Spinocerebellar ataxia 15			177
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	ITPR1 CL E G H	3708	6180	OMIM:606658	Spinocerebellar ataxia 15			177
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	ITPR1 CL E G H	3708	6180	OMIM:117360	Spinocerebellar ataxia 29			177
HP:0000496	HP:0000570	Abnormal saccadic eye movements	1	ITPR1 CL E G H	3708	6180	ORPHA:208513	Spinocerebellar ataxia type 29	HP:0040282 - Frequent		177
HP:0000496	HP:0000657	Oculomotor apraxia	1	ITPR1 CL E G H	3708	6180	ORPHA:208513	Spinocerebellar ataxia type 29	HP:0040282 - Frequent		177
HP:0000496	HP:0025404	Abnormal visual fixation	1	ITPR1 CL E G H	3708	6180	ORPHA:208513	Spinocerebellar ataxia type 29			177
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	ITPR1 CL E G H	3708	6180	ORPHA:208513	Spinocerebellar ataxia type 29			177
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	JAG1 CL E G H	182	6188	OMIM:118450	Alagille syndrome 1			257
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	JAM2 CL E G H	58494	14686	OMIM:618824	BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 8, AUTOSOMAL RECESSIVE; IBGC8
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome			2
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	JRK CL E G H	8629	6199	ORPHA:64280	Childhood absence epilepsy
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	KANK1 CL E G H	23189	19309	OMIM:612900	CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, 2; CPSQ2			26
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	KANSL1 CL E G H	284058	24565	ORPHA:363958	17q21.31 microdeletion syndrome			283
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	KANSL1 CL E G H	284058	24565	OMIM:610443	Koolen-De Vries syndrome			283
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	KANSL1 CL E G H	284058	24565	ORPHA:363965	Koolen-De Vries syndrome due to a point mutation			283
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	KARS1 CL E G H	3735	6215	OMIM:619147	LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS; LEPID
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	KAT5 CL E G H	10524	5275	OMIM:619103	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES; NEDFASB			1
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome			34
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	KAT6A CL E G H	7994	13013	ORPHA:457193	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome			34
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	KAT8 CL E G H	84148	17933	OMIM:618974	LI-GHORBANI-WEISZ-HUBSHMAN SYNDROME; LIGOWS
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	KATNIP CL E G H	23247	29068	ORPHA:475	Joubert syndrome
HP:0000496	HP:0000657	Oculomotor apraxia	1	KATNIP CL E G H	23247	29068	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	KATNIP CL E G H	23247	29068	ORPHA:475	Joubert syndrome
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	KATNIP CL E G H	23247	29068	OMIM:616784	JOUBERT SYNDROME 26; JBTS26
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	KCNA1 CL E G H	3736	6218	ORPHA:1934	Early infantile epileptic encephalopathy			145
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	KCNA2 CL E G H	3737	6220	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040284 - Very rare		13
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	KCNAB2 CL E G H	8514	6229	ORPHA:1606	1p36 deletion syndrome			1
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	KCNAB2 CL E G H	8514	6229	ORPHA:1606	1p36 deletion syndrome			1
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	KCNB1 CL E G H	3745	6231	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040284 - Very rare		65
HP:0000496	HP:0000617	Abnormality of ocular smooth pursuit	1	KCNC3 CL E G H	3748	6235	OMIM:605259	Spinocerebellar ataxia 13			17
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	KCNC3 CL E G H	3748	6235	ORPHA:98768	Spinocerebellar ataxia type 13			17
HP:0000496	HP:0000617	Abnormality of ocular smooth pursuit	1	KCNC3 CL E G H	3748	6235	ORPHA:98768	Spinocerebellar ataxia type 13			17
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	KCNC3 CL E G H	3748	6235	ORPHA:98768	Spinocerebellar ataxia type 13			17
HP:0000496	HP:0000617	Abnormality of ocular smooth pursuit	1	KCND3 CL E G H	3752	6239	OMIM:607346	Spinocerebellar ataxia 19			35
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	KCND3 CL E G H	3752	6239	OMIM:607346	Spinocerebellar ataxia 19			35
HP:0000496	HP:0000597	Ophthalmoparesis	1	KCND3 CL E G H	3752	6239	ORPHA:98772	Spinocerebellar ataxia type 19/22			35
HP:0000496	HP:0000617	Abnormality of ocular smooth pursuit	1	KCND3 CL E G H	3752	6239	ORPHA:98772	Spinocerebellar ataxia type 19/22			35
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	KCND3 CL E G H	3752	6239	ORPHA:98772	Spinocerebellar ataxia type 19/22			35
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	KCNE5 CL E G H	23630	6241	ORPHA:86818	Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome			5
HP:0000496	HP:0000657	Oculomotor apraxia	1	KCNH1 CL E G H	3756	6250	OMIM:135500	Zimmermann-Laband syndrome 1			13
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	KCNH1 CL E G H	3756	6250	OMIM:135500	Zimmermann-Laband syndrome 1			13
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	KCNJ13 CL E G H	3769	6259	ORPHA:65	Leber congenital amaurosis			42
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	KCNJ13 CL E G H	3769	6259	OMIM:614186	Leber congenital amaurosis 16			42
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	KCNJ13 CL E G H	3769	6259	OMIM:614186	Leber congenital amaurosis 16			42
HP:0000496	HP:0000597	Ophthalmoparesis	1	KCNJ18 CL E G H	100134444	39080	ORPHA:79102	Thyrotoxic periodic paralysis	HP:0040284 - Very rare		10
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	KCNK4 CL E G H	50801	6279	OMIM:618381	Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	KCNMA1 CL E G H	3778	6284	ORPHA:79137	Generalized epilepsy-paroxysmal dyskinesia syndrome			114
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	KCNMA1 CL E G H	3778	6284	ORPHA:79137	Generalized epilepsy-paroxysmal dyskinesia syndrome			114
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	KCNMA1 CL E G H	3778	6284	OMIM:618729	LIANG-WANG SYNDROME; LIWAS			114
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	KCNMA1 CL E G H	3778	6284	OMIM:618729	LIANG-WANG SYNDROME; LIWAS			114
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	KCNN2 CL E G H	3781	6291	OMIM:619724	DYSTONIA 34, MYOCLONIC; DYT34
HP:0000496	HP:0000570	Abnormal saccadic eye movements	1	KCNN2 CL E G H	3781	6291	OMIM:619724	DYSTONIA 34, MYOCLONIC; DYT34
HP:0000496	HP:0000617	Abnormality of ocular smooth pursuit	1	KCNN2 CL E G H	3781	6291	OMIM:619724	DYSTONIA 34, MYOCLONIC; DYT34
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	KCNN2 CL E G H	3781	6291	OMIM:619724	DYSTONIA 34, MYOCLONIC; DYT34
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	KCNV2 CL E G H	169522	19698	OMIM:610356	Retinal cone dystrophy 3B			73
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	KCNV2 CL E G H	169522	19698	OMIM:610356	Retinal cone dystrophy 3B			73
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	KDM1A CL E G H	23028	29079	OMIM:616728	Cleft palate, psychomotor retardation, and distinctive facial features			3
HP:0000496	HP:0000657	Oculomotor apraxia	1	KDM1A CL E G H	23028	29079	OMIM:616728	Cleft palate, psychomotor retardation, and distinctive facial features			3
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	KDM1A CL E G H	23028	29079	ORPHA:477993	Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome			3
HP:0000496	HP:0000657	Oculomotor apraxia	1	KDM1A CL E G H	23028	29079	ORPHA:477993	Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome	HP:0040283 - Occasional		3
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	KDM5B CL E G H	10765	18039	OMIM:618109	Mental retardation, autosomal recessive 65			2
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	KDM5C CL E G H	8242	11114	OMIM:300534	Mental retardation, X-linked, syndromic, Claes-Jensen type			81
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	KDM5C CL E G H	8242	11114	ORPHA:85279	Syndromic X-linked intellectual disability due to JARID1C mutation			81
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	KDM6A CL E G H	7403	12637	ORPHA:2322	Kabuki syndrome			53
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	KDM6A CL E G H	7403	12637	ORPHA:2322	Kabuki syndrome			53
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	KDM6A CL E G H	7403	12637	OMIM:147920	Kabuki syndrome 1			53
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	KDM6A CL E G H	7403	12637	OMIM:300867	Kabuki syndrome 2			53
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	KDM6A CL E G H	7403	12637	OMIM:300867	Kabuki syndrome 2			53
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	KDM6B CL E G H	23135	29012	OMIM:618505	Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities			9
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	KIAA0586 CL E G H	9786	19960	ORPHA:475	Joubert syndrome			24
HP:0000496	HP:0000657	Oculomotor apraxia	1	KIAA0586 CL E G H	9786	19960	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent		24
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	KIAA0586 CL E G H	9786	19960	ORPHA:475	Joubert syndrome			24
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	KIAA0586 CL E G H	9786	19960	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy			24
HP:0000496	HP:0000657	Oculomotor apraxia	1	KIAA0586 CL E G H	9786	19960	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy	HP:0040282 - Frequent		24
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	KIAA0753 CL E G H	9851	29110	OMIM:619476	JOUBERT SYNDROME 38; JBTS38			4
HP:0000496	HP:0000657	Oculomotor apraxia	1	KIAA0753 CL E G H	9851	29110	OMIM:619476	JOUBERT SYNDROME 38; JBTS38			4
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	KIAA0753 CL E G H	9851	29110	ORPHA:2754	Orofaciodigital syndrome type 6			4
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	KIAA0753 CL E G H	9851	29110	ORPHA:2754	Orofaciodigital syndrome type 6			4
HP:0000496	HP:0000597	Ophthalmoparesis	1	KIAA1549 CL E G H	57670	22219	ORPHA:791	Retinitis pigmentosa
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	KIAA1549 CL E G H	57670	22219	ORPHA:791	Retinitis pigmentosa
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	KIDINS220 CL E G H	57498	29508	OMIM:617296	SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY; SINO			4
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	KIDINS220 CL E G H	57498	29508	OMIM:617296	SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY; SINO			4
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	KIDINS220 CL E G H	57498	29508	ORPHA:521390	Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome			4
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	KIDINS220 CL E G H	57498	29508	ORPHA:521390	Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome			4
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	KIF11 CL E G H	3832	6388	OMIM:152950	Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation			46
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	KIF14 CL E G H	9928	19181	OMIM:617914	Microcephaly 20, primary, autosomal recessive			9
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	KIF15 CL E G H	56992	17273	ORPHA:261323	21q22.11q22.12 microdeletion syndrome
HP:0000496	HP:0000570	Abnormal saccadic eye movements	1	KIF1A CL E G H	547	888	ORPHA:101010	Autosomal spastic paraplegia type 30	HP:0040282 - Frequent		276
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	KIF1A CL E G H	547	888	OMIM:614255	Mental retardation, autosomal dominant 9			276
HP:0000496	HP:0000570	Abnormal saccadic eye movements	1	KIF1B CL E G H	23095	16636	OMIM:256700	Neuroblastoma, susceptibility to			202
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	KIF1B CL E G H	23095	16636	OMIM:256700	Neuroblastoma, susceptibility to			202
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	KIF1C CL E G H	10749	6317	ORPHA:397946	Autosomal spastic paraplegia type 58			38
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	KIF1C CL E G H	10749	6317	OMIM:611302	Spastic ataxia 2, autosomal recessive			38
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	KIF21A CL E G H	55605	19349	OMIM:135700	Fibrosis of extraocular muscles, congenital, 1			93
HP:0000496	HP:0000597	Ophthalmoparesis	1	KIF21A CL E G H	55605	19349	OMIM:135700	Fibrosis of extraocular muscles, congenital, 1			93
HP:0000496	HP:0031705	Compensatory head posture	1	KIF21A CL E G H	55605	19349	OMIM:135700	Fibrosis of extraocular muscles, congenital, 1			93
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	KIF22 CL E G H	3835	6391	ORPHA:93360	Spondyloepimetaphyseal dysplasia with multiple dislocations			14
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	KIF2A CL E G H	3796	6318	OMIM:615411	Cortical dysplasia, complex, with other brain malformations 3			15
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	KIF5A CL E G H	3798	6323	OMIM:617235	Myoclonus, intractable, neonatal			93
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	KIF7 CL E G H	374654	30497	OMIM:200990	Acrocallosal syndrome			167
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	KIF7 CL E G H	374654	30497	OMIM:200990	Acrocallosal syndrome			167
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	KIF7 CL E G H	374654	30497	ORPHA:2754	Orofaciodigital syndrome type 6			167
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	KIF7 CL E G H	374654	30497	ORPHA:2754	Orofaciodigital syndrome type 6			167
HP:0000496	HP:0000597	Ophthalmoparesis	1	KIZ CL E G H	55857	15865	ORPHA:791	Retinitis pigmentosa			3
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	KIZ CL E G H	55857	15865	ORPHA:791	Retinitis pigmentosa			3
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	KLC2 CL E G H	64837	20716	OMIM:609541	Spastic paraplegia, optic atrophy, and neuropathy			1
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	KLC2 CL E G H	64837	20716	ORPHA:320406	Spastic paraplegia-optic atrophy-neuropathy syndrome			1
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	KLF13 CL E G H	51621	13672	OMIM:612001	Chromosome 15q13.3 microdeletion syndrome
HP:0000496	HP:0000597	Ophthalmoparesis	1	KLHL40 CL E G H	131377	30372	OMIM:615348	NEMALINE MYOPATHY 8; NEM8			28
HP:0000496	HP:0000597	Ophthalmoparesis	1	KLHL40 CL E G H	131377	30372	ORPHA:171430	Severe congenital nemaline myopathy			28
HP:0000496	HP:0000597	Ophthalmoparesis	1	KLHL41 CL E G H	10324	16905	ORPHA:171433	Intermediate nemaline myopathy			13
HP:0000496	HP:0000597	Ophthalmoparesis	1	KLHL41 CL E G H	10324	16905	ORPHA:171430	Severe congenital nemaline myopathy			13
HP:0000496	HP:0000597	Ophthalmoparesis	1	KLHL7 CL E G H	55975	15646	ORPHA:791	Retinitis pigmentosa			42
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	KLHL7 CL E G H	55975	15646	ORPHA:791	Retinitis pigmentosa			42
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	KMT2A CL E G H	4297	7132	OMIM:605130	Wiedemann-Steiner syndrome			91
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	KMT2B CL E G H	9757	15840	OMIM:619934				11
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	KMT2B CL E G H	9757	15840	OMIM:619934				11
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	KMT2B CL E G H	9757	15840	ORPHA:589618	Dystonia 28			11
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	KMT2B CL E G H	9757	15840	ORPHA:589618	Dystonia 28			11
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	KMT2B CL E G H	9757	15840	OMIM:617284	Dystonia 28, childhood-onset			11
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	KMT2D CL E G H	8085	7133	ORPHA:2322	Kabuki syndrome			660
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	KMT2D CL E G H	8085	7133	ORPHA:2322	Kabuki syndrome			660
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	KMT2D CL E G H	8085	7133	OMIM:147920	Kabuki syndrome 1			660
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	KRAS CL E G H	3845	6407	ORPHA:1340	Cardiofaciocutaneous syndrome			196
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	KRAS CL E G H	3845	6407	ORPHA:1340	Cardiofaciocutaneous syndrome			196
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	KRAS CL E G H	3845	6407	ORPHA:648	Noonan syndrome			196
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	KRAS CL E G H	3845	6407	ORPHA:648	Noonan syndrome			196
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	KRAS CL E G H	3845	6407	OMIM:609942	Noonan syndrome 3			196
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	KRAS CL E G H	3845	6407	OMIM:609942	Noonan syndrome 3			196
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	KRAS CL E G H	3845	6407	OMIM:600268	Oculoectodermal syndrome			196
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	KRAS CL E G H	3845	6407	OMIM:600268	Oculoectodermal syndrome			196
HP:0000496	HP:0000597	Ophthalmoparesis	1	KRAS CL E G H	3845	6407	OMIM:163200	Schimmelpenning-Feuerstein-Mims syndrome			196
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	KRAS CL E G H	3845	6407	ORPHA:3339	Toriello-Lacassie-Droste syndrome			196
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	KRT10 CL E G H	3858	6413	OMIM:609165	Erythroderma, ichthyosiform, congenital reticular			45
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	KRT10 CL E G H	3858	6413	OMIM:609165	Erythroderma, ichthyosiform, congenital reticular			45
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	KRT14 CL E G H	3861	6416	ORPHA:79396	Autosomal dominant generalized epidermolysis bullosa simplex, severe form			110
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	KRT25 CL E G H	147183	30839	ORPHA:170	Woolly hair			2
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	KRT5 CL E G H	3852	6442	ORPHA:79396	Autosomal dominant generalized epidermolysis bullosa simplex, severe form			173
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	KRT71 CL E G H	112802	28927	ORPHA:170	Woolly hair			1
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	KRT74 CL E G H	121391	28929	ORPHA:170	Woolly hair			5
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	L1CAM CL E G H	3897	6470	ORPHA:2182	Hydrocephalus with stenosis of the aqueduct of Sylvius			134
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	L1CAM CL E G H	3897	6470	ORPHA:2182	Hydrocephalus with stenosis of the aqueduct of Sylvius			134
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	L1CAM CL E G H	3897	6470	OMIM:303350	MASA syndrome			134
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	L2HGDH CL E G H	79944	20499	OMIM:236792	L-2-Hydroxyglutaric aciduria			34
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	L2HGDH CL E G H	79944	20499	OMIM:236792	L-2-Hydroxyglutaric aciduria			34
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	LAGE3 CL E G H	8270	26058	OMIM:301006	Galloway-Mowat syndrome 2, X-linked
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	LAGE3 CL E G H	8270	26058	OMIM:301006	Galloway-Mowat syndrome 2, X-linked
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	LAMA1 CL E G H	284217	6481	ORPHA:370022	Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome			35
HP:0000496	HP:0000657	Oculomotor apraxia	1	LAMA1 CL E G H	284217	6481	ORPHA:370022	Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome	HP:0040282 - Frequent		35
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	LAMA1 CL E G H	284217	6481	ORPHA:370022	Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome			35
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	LAMA1 CL E G H	284217	6481	OMIM:615960	Poretti-Boltshauser syndrome			35
HP:0000496	HP:0000657	Oculomotor apraxia	1	LAMA1 CL E G H	284217	6481	OMIM:615960	Poretti-Boltshauser syndrome	.		35
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	LAMA1 CL E G H	284217	6481	OMIM:615960	Poretti-Boltshauser syndrome			35
HP:0000496	HP:0000597	Ophthalmoparesis	1	LAMA2 CL E G H	3908	6482	OMIM:607855	Muscular dystrophy, congenital, merosin deficient or partially deficient			411
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	LAMB2 CL E G H	3913	6487	OMIM:614199	Nephrotic syndrome, type 5, with or without ocular abnormalities			92
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	LAMB2 CL E G H	3913	6487	OMIM:614199	Nephrotic syndrome, type 5, with or without ocular abnormalities			92
HP:0000496	HP:0000597	Ophthalmoparesis	1	LAMB2 CL E G H	3913	6487	ORPHA:98915	Synaptic congenital myasthenic syndromes	HP:0040282 - Frequent		92
HP:0000496	HP:0007941	Limited extraocular movements	1	LAMB2 CL E G H	3913	6487	ORPHA:98915	Synaptic congenital myasthenic syndromes	HP:0040283 - Occasional		92
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	LARGE1 CL E G H	9215	6511	ORPHA:370968	Congenital muscular dystrophy with intellectual disability			136
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	LARGE1 CL E G H	9215	6511	ORPHA:588	Muscle-eye-brain disease			136
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	LARGE1 CL E G H	9215	6511	OMIM:608840	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6			136
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	LARP7 CL E G H	51574	24912	ORPHA:319671	Alazami syndrome			16
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	LARS2 CL E G H	23395	17095	OMIM:615300	Perrault syndrome 4			54
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	LBR CL E G H	3930	6518	OMIM:169400	Pelger-Huet anomaly			70
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	LCA5 CL E G H	167691	31923	ORPHA:65	Leber congenital amaurosis			70
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	LCA5 CL E G H	167691	31923	OMIM:604537	Leber congenital amaurosis 5			70
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	LCA5 CL E G H	167691	31923	ORPHA:364055	Severe early-childhood-onset retinal dystrophy			70
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	LCA5 CL E G H	167691	31923	ORPHA:364055	Severe early-childhood-onset retinal dystrophy			70
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	LEMD3 CL E G H	23592	28887	ORPHA:1306	Buschke-Ollendorff syndrome			68
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	LETM1 CL E G H	3954	6556	OMIM:620089				2
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	LETM1 CL E G H	3954	6556	OMIM:194190	Wolf-Hirschhorn syndrome			2
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	LETM1 CL E G H	3954	6556	ORPHA:280	Wolf-Hirschhorn syndrome			2
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	LETM1 CL E G H	3954	6556	OMIM:194190	Wolf-Hirschhorn syndrome			2
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	LETM1 CL E G H	3954	6556	ORPHA:280	Wolf-Hirschhorn syndrome			2
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	LGI4 CL E G H	163175	18712	OMIM:617468	Arthrogryposis multiplex congenita, neurogenic, with myelin defect			6
HP:0000496	HP:0000597	Ophthalmoparesis	1	LIG3 CL E G H	3980	6600	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy	HP:0040282 - Frequent		1
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	LIG4 CL E G H	3981	6601	ORPHA:235	Dubowitz syndrome			88
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	LIG4 CL E G H	3981	6601	ORPHA:235	Dubowitz syndrome			88
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	LIM2 CL E G H	3982	6610	OMIM:615277	Cataract 19, multiple types			16
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	LIPH CL E G H	200879	18483	ORPHA:170	Woolly hair			12
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	LIPT1 CL E G H	51601	29569	ORPHA:255241	Leigh syndrome with leukodystrophy			21
HP:0000496	HP:0000597	Ophthalmoparesis	1	LIPT1 CL E G H	51601	29569	ORPHA:255241	Leigh syndrome with leukodystrophy			21
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	LIPT1 CL E G H	51601	29569	ORPHA:255241	Leigh syndrome with leukodystrophy			21
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	LMBRD2 CL E G H	92255	25287	OMIM:619694	DEVELOPMENTAL DELAY WITH VARIABLE NEUROLOGIC AND BRAIN ABNORMALITIES; DENBA
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	LMBRD2 CL E G H	92255	25287	OMIM:619694	DEVELOPMENTAL DELAY WITH VARIABLE NEUROLOGIC AND BRAIN ABNORMALITIES; DENBA
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	LMNB1 CL E G H	4001	6637	ORPHA:99027	Adult-onset autosomal dominant leukodystrophy			44
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	LMNB1 CL E G H	4001	6637	ORPHA:2514	Autosomal dominant primary microcephaly			44
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	LMNB1 CL E G H	4001	6637	ORPHA:2514	Autosomal dominant primary microcephaly			44
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	LMNB1 CL E G H	4001	6637	OMIM:169500	Leukodystrophy, adult-onset, autosomal dominant			44
HP:0000496	HP:0000597	Ophthalmoparesis	1	LMOD3 CL E G H	56203	6649	OMIM:616165	Nemaline myopathy 10			11
HP:0000496	HP:0000597	Ophthalmoparesis	1	LMOD3 CL E G H	56203	6649	ORPHA:171430	Severe congenital nemaline myopathy			11
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	LMX1B CL E G H	4010	6654	ORPHA:495818	9q33.3q34.11 microdeletion syndrome			165
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	LOC111365204 CL E G H	111365204		OMIM:600790	Chorioretinal atrophy, progressive bifocal
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	LONP1 CL E G H	9361	9479	ORPHA:1458	CODAS syndrome			8
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	LONP1 CL E G H	9361	9479	ORPHA:1458	CODAS syndrome			8
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	LPAR6 CL E G H	10161	15520	ORPHA:170	Woolly hair			8
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	LRAT CL E G H	9227	6685	ORPHA:65	Leber congenital amaurosis			62
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	LRAT CL E G H	9227	6685	OMIM:613341	Leber congenital amaurosis 14			62
HP:0000496	HP:0000597	Ophthalmoparesis	1	LRAT CL E G H	9227	6685	ORPHA:791	Retinitis pigmentosa			62
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	LRAT CL E G H	9227	6685	ORPHA:791	Retinitis pigmentosa			62
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	LRAT CL E G H	9227	6685	ORPHA:364055	Severe early-childhood-onset retinal dystrophy			62
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	LRAT CL E G H	9227	6685	ORPHA:364055	Severe early-childhood-onset retinal dystrophy			62
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	LRIT3 CL E G H	345193	24783	ORPHA:215	Congenital stationary night blindness			54
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	LRIT3 CL E G H	345193	24783	ORPHA:215	Congenital stationary night blindness			54
HP:0000496	HP:0031705	Compensatory head posture	1	LRIT3 CL E G H	345193	24783	ORPHA:215	Congenital stationary night blindness	HP:0040283 - Occasional		54
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	LRIT3 CL E G H	345193	24783	OMIM:615058	Night blindness, congenital stationary, type 1F			54
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	LRMDA CL E G H	83938	23405	OMIM:615179	Albinism, oculocutaneous, type V			13
HP:0000496	HP:0000597	Ophthalmoparesis	1	LRP12 CL E G H	29967	31708	OMIM:164310	Oculopharyngodistal myopathy 1
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	LRP4 CL E G H	4038	6696	ORPHA:3258	Cenani-Lenz syndrome			124
HP:0000496	HP:0000597	Ophthalmoparesis	1	LRP4 CL E G H	4038	6696	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent		124
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	LRP5 CL E G H	4041	6697	ORPHA:2790	Endosteal hyperostosis, Worth type			125
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	LRP5 CL E G H	4041	6697	OMIM:133780	Exudative vitreoretinopathy 1			125
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	LRP5 CL E G H	4041	6697	OMIM:601813	Exudative vitreoretinopathy 4			125
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	LRP5 CL E G H	4041	6697	ORPHA:2788	Osteoporosis-pseudoglioma syndrome			125
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	LRPPRC CL E G H	10128	15714	OMIM:220111	Leigh syndrome, french Canadian type			191
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	LRRC32 CL E G H	2615	4161	OMIM:619074	CLEFT PALATE, PROLIFERATIVE RETINOPATHY, AND DEVELOPMENTAL DELAY; CPPRDD
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	LSM11 CL E G H	134353	30860	ORPHA:51	Aicardi-Goutières syndrome
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	LSM11 CL E G H	134353	30860	OMIM:619486	AICARDI-GOUTIERES SYNDROME 8; AGS8
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	LUZP1 CL E G H	7798	14985	ORPHA:1606	1p36 deletion syndrome
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	LUZP1 CL E G H	7798	14985	ORPHA:1606	1p36 deletion syndrome
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	LYRM7 CL E G H	90624	28072	OMIM:615838	Mitochondrial complex III deficiency, nuclear type 8			10
HP:0000496	HP:0000597	Ophthalmoparesis	1	LYRM7 CL E G H	90624	28072	OMIM:615838	Mitochondrial complex III deficiency, nuclear type 8			10
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	LYRM7 CL E G H	90624	28072	OMIM:615838	Mitochondrial complex III deficiency, nuclear type 8			10
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	LYST CL E G H	1130	1968	ORPHA:167	Chédiak-Higashi syndrome			239
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	LYST CL E G H	1130	1968	ORPHA:167	Chédiak-Higashi syndrome			239
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	LYST CL E G H	1130	1968	OMIM:214500	Chediak-Higashi syndrome			239
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	LYST CL E G H	1130	1968	OMIM:214500	Chediak-Higashi syndrome			239
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	LZTFL1 CL E G H	54585	6741	ORPHA:110	Bardet-Biedl syndrome			4
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	LZTR1 CL E G H	8216	6742	ORPHA:648	Noonan syndrome			43
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	LZTR1 CL E G H	8216	6742	ORPHA:648	Noonan syndrome			43
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	MAB21L1 CL E G H	4081	6757	OMIM:618479	Cerebellar, ocular, craniofacial, and genital syndrome
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	MAB21L1 CL E G H	4081	6757	OMIM:618479	Cerebellar, ocular, craniofacial, and genital syndrome
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	MAB21L2 CL E G H	10586	6758	OMIM:615877	Microphthalmia/coloboma and skeletal dysplasia syndrome			5
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	MAB21L2 CL E G H	10586	6758	OMIM:615877	Microphthalmia/coloboma and skeletal dysplasia syndrome			5
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	MACF1 CL E G H	23499	13664	OMIM:618325	Lissencephaly 9 with complex brainstem malformation			2
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	MACF1 CL E G H	23499	13664	ORPHA:572013	Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome			2
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	MAD2L2 CL E G H	10459	6764	ORPHA:84	Fanconi anemia			1
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	MAD2L2 CL E G H	10459	6764	ORPHA:84	Fanconi anemia			1
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	MADD CL E G H	8567	6766	OMIM:619004	DEEAH SYNDROME; DEEAH			5
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	MADD CL E G H	8567	6766	OMIM:619005	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA; NEDDISH			5
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	MAF CL E G H	4094	6776	ORPHA:1377	Cataract-microcornea syndrome			21
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	MAFB CL E G H	9935	6408	ORPHA:233	Duane retraction syndrome			63
HP:0000496	HP:0000597	Ophthalmoparesis	1	MAFB CL E G H	9935	6408	ORPHA:233	Duane retraction syndrome			63
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	MAFB CL E G H	9935	6408	ORPHA:233	Duane retraction syndrome			63
HP:0000496	HP:0000542	Impaired ocular adduction	1	MAFB CL E G H	9935	6408	OMIM:617041	Duane retraction syndrome 3 with or without deafness	.		63
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	MAFB CL E G H	9935	6408	OMIM:617041	Duane retraction syndrome 3 with or without deafness			63
HP:0000496	HP:0011347	Abnormality of ocular abduction	1	MAFB CL E G H	9935	6408	OMIM:617041	Duane retraction syndrome 3 with or without deafness			63
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	MAG CL E G H	4099	6783	ORPHA:459056	Autosomal recessive spastic paraplegia type 75			4
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	MAG CL E G H	4099	6783	OMIM:616680	Spastic paraplegia 75, autosomal recessive			4
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	MAGEL2 CL E G H	54551	6814	ORPHA:398069	MAGEL2-related Prader-Willi-like syndrome			63
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	MAGEL2 CL E G H	54551	6814	OMIM:176270	Prader-Willi syndrome			63
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	MAGEL2 CL E G H	54551	6814	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15			63
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	MAGEL2 CL E G H	54551	6814	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1			63
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	MAGEL2 CL E G H	54551	6814	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2			63
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	MAGEL2 CL E G H	54551	6814	OMIM:615547	Schaaf-Yang syndrome			63
HP:0000496	HP:0000597	Ophthalmoparesis	1	MAK CL E G H	4117	6816	ORPHA:791	Retinitis pigmentosa			53
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	MAK CL E G H	4117	6816	ORPHA:791	Retinitis pigmentosa			53
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	MAN1B1 CL E G H	11253	6823	OMIM:614202	Rafiq syndrome			93
HP:0000496	HP:0000617	Abnormality of ocular smooth pursuit	1	MAN2B1 CL E G H	4125	6826	OMIM:248500	Alpha-mannosidosis			136
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	MAN2B1 CL E G H	4125	6826	OMIM:248500	Alpha-mannosidosis			136
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	MAN2B1 CL E G H	4125	6826	ORPHA:309282	Alpha-mannosidosis, infantile form			136
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	MAP2K1 CL E G H	5604	6840	ORPHA:1340	Cardiofaciocutaneous syndrome			134
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	MAP2K1 CL E G H	5604	6840	ORPHA:1340	Cardiofaciocutaneous syndrome			134
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	MAP2K1 CL E G H	5604	6840	OMIM:615279	Cardiofaciocutaneous syndrome 3			134
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	MAP2K2 CL E G H	5605	6842	ORPHA:1340	Cardiofaciocutaneous syndrome			178
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	MAP2K2 CL E G H	5605	6842	ORPHA:1340	Cardiofaciocutaneous syndrome			178
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	MAP2K2 CL E G H	5605	6842	OMIM:615280	Cardiofaciocutaneous syndrome 4			178
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	MAP2K2 CL E G H	5605	6842	OMIM:615280	Cardiofaciocutaneous syndrome 4			178
HP:0000496	HP:0000597	Ophthalmoparesis	1	MAP3K20 CL E G H	51776	17797	ORPHA:2020	Congenital fiber-type disproportion myopathy			2
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	MAP3K7 CL E G H	6885	6859	OMIM:157800	Cardiospondylocarpofacial syndrome			11
HP:0000496	HP:0000657	Oculomotor apraxia	1	MAPK1 CL E G H	5594	6871	ORPHA:261330	Distal 22q11.2 microdeletion syndrome	HP:0040283 - Occasional		2
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	MAPK8IP3 CL E G H	23162	6884	OMIM:618443	Neurodevelopmental disorder with or without variable brain abnormalities
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	MAPK8IP3 CL E G H	23162	6884	OMIM:618443	Neurodevelopmental disorder with or without variable brain abnormalities
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	MAPKAPK5 CL E G H	8550	6889	OMIM:619869
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	MAPRE2 CL E G H	10982	6891	OMIM:616734	Skin creases, congenital symmetric circumferential, 2			4
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	MAPT CL E G H	4137	6893	ORPHA:240071	Classic progressive supranuclear palsy syndrome			140
HP:0000496	HP:0000570	Abnormal saccadic eye movements	1	MAPT CL E G H	4137	6893	ORPHA:240071	Classic progressive supranuclear palsy syndrome	HP:0040282 - Frequent		140
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	MAPT CL E G H	4137	6893	ORPHA:240103	Progressive supranuclear palsy-corticobasal syndrome			140
HP:0000496	HP:0000570	Abnormal saccadic eye movements	1	MAPT CL E G H	4137	6893	ORPHA:240103	Progressive supranuclear palsy-corticobasal syndrome	HP:0040282 - Frequent		140
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	MAPT CL E G H	4137	6893	ORPHA:240085	Progressive supranuclear palsy-parkinsonism syndrome			140
HP:0000496	HP:0000570	Abnormal saccadic eye movements	1	MAPT CL E G H	4137	6893	ORPHA:240085	Progressive supranuclear palsy-parkinsonism syndrome	HP:0040281 - Very frequent		140
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	MAPT CL E G H	4137	6893	ORPHA:240112	Progressive supranuclear palsy-progressive non-fluent aphasia syndrome			140
HP:0000496	HP:0000570	Abnormal saccadic eye movements	1	MAPT CL E G H	4137	6893	ORPHA:240094	Progressive supranuclear palsy-pure akinesia with gait freezing syndrome	.		140
HP:0000496	HP:0000657	Oculomotor apraxia	1	MAPT CL E G H	4137	6893	ORPHA:240094	Progressive supranuclear palsy-pure akinesia with gait freezing syndrome	HP:0040284 - Very rare		140
HP:0000496	HP:0000597	Ophthalmoparesis	1	MAPT CL E G H	4137	6893	OMIM:260540	Supranuclear palsy, progressive atypical	.		140
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	MAPT CL E G H	4137	6893	OMIM:601104	Supranuclear palsy, progressive, 1			140
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	MARS2 CL E G H	92935	25133	ORPHA:314603	Autosomal recessive spastic ataxia with leukoencephalopathy			25
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	MARS2 CL E G H	92935	25133	OMIM:611390	Spastic ataxia 3, autosomal recessive			25
HP:0000496	HP:0000657	Oculomotor apraxia	1	MAST1 CL E G H	22983	19034	OMIM:618273	Mega-Corpus-Callosum syndrome with cerebellar hypoplasia and cortical malformations	HP:0040284 - Very rare		1
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	MBD5 CL E G H	55777	20444	OMIM:156200	Mental retardation, autosomal dominant 1			252
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	MBTPS2 CL E G H	51360	15455	ORPHA:2273	Ichthyosis follicularis-alopecia-photophobia syndrome			22
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	MC1R CL E G H	4157	6929	OMIM:203200	Albinism, oculocutaneous, type II			124
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	MC1R CL E G H	4157	6929	OMIM:203200	Albinism, oculocutaneous, type II			124
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	MC1R CL E G H	4157	6929	ORPHA:79432	Oculocutaneous albinism type 2			124
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	MCM3AP CL E G H	8888	6946	OMIM:618124	Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development			3
HP:0000496	HP:0000597	Ophthalmoparesis	1	MCM3AP CL E G H	8888	6946	OMIM:618124	Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development			3
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	MCOLN1 CL E G H	57192	13356	OMIM:252650	Mucolipidosis IV			78
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	MCOLN1 CL E G H	57192	13356	ORPHA:578	Mucolipidosis type IV			78
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	MCOLN1 CL E G H	57192	13356	ORPHA:578	Mucolipidosis type IV			78
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	MCTP2 CL E G H	55784	25636	ORPHA:1596	Distal monosomy 15q			3
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	MDH2 CL E G H	4191	6971	OMIM:617339	Epileptic encephalopathy, early infantile, 51			4
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	MECR CL E G H	51102	19691	OMIM:617282	Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities			6
HP:0000496	HP:0000570	Abnormal saccadic eye movements	1	MECR CL E G H	51102	19691	OMIM:617282	Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities			6
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	MECR CL E G H	51102	19691	OMIM:617282	Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities			6
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	MECR CL E G H	51102	19691	ORPHA:508093	MEPAN syndrome			6
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	MECR CL E G H	51102	19691	ORPHA:508093	MEPAN syndrome			6
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	MED12 CL E G H	9968	11957	ORPHA:93932	FG syndrome type 1			228
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	MED12 CL E G H	9968	11957	OMIM:301068	HARDIKAR SYNDROME; HDKR			228
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	MED12 CL E G H	9968	11957	OMIM:300895	Ohdo syndrome, X-linked			228
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	MED12 CL E G H	9968	11957	OMIM:300895	Ohdo syndrome, X-linked			228
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	MED12 CL E G H	9968	11957	OMIM:305450	Opitz-Kaveggia syndrome			228
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	MED12L CL E G H	116931	16050	OMIM:618872	NIZON-ISIDOR SYNDROME; NIZIDS
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	MED13 CL E G H	9969	22474	OMIM:618009	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 61; MRD61			4
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	MED13L CL E G H	23389	22962	OMIM:616789	Mental retardation and distinctive facial features with or without cardiac defects			74
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	MED25 CL E G H	81857	28845	OMIM:616449	Basel-Vanagaite-Smirin-Yosef syndrome			43
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	MED25 CL E G H	81857	28845	ORPHA:464738	Basel-Vanagaite-Smirin-Yosef syndrome			43
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	MEF2C CL E G H	4208	6996	ORPHA:228384	5q14.3 microdeletion syndrome			132
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	MEG3 CL E G H	55384	14575	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion			1
HP:0000496	HP:0000597	Ophthalmoparesis	1	MEN1 CL E G H	4221	7010	ORPHA:2965	Prolactinoma			462
HP:0000496	HP:0000597	Ophthalmoparesis	1	MERTK CL E G H	10461	7027	ORPHA:791	Retinitis pigmentosa			75
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	MERTK CL E G H	10461	7027	ORPHA:791	Retinitis pigmentosa			75
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome			1
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome			1
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	METTL5 CL E G H	29081	25006	OMIM:618665	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 72; MRT72
HP:0000496	HP:0000597	Ophthalmoparesis	1	MFF CL E G H	56947	24858	OMIM:617086	Encephalopathy due to defective mitochondrial and peroxisomal fission 2			17
HP:0000496	HP:0000597	Ophthalmoparesis	1	MFF CL E G H	56947	24858	ORPHA:485421	MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect			17
HP:0000496	HP:0000570	Abnormal saccadic eye movements	1	MFN2 CL E G H	9927	16877	OMIM:601152	Hereditary motor and sensory neuropathy VI			203
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	MFRP CL E G H	83552	18121	ORPHA:35612	Nanophthalmos			26
HP:0000496	HP:0000597	Ophthalmoparesis	1	MGME1 CL E G H	92667	16205	OMIM:615084	Mitochondrial DNA depletion syndrome 11			11
HP:0000496	HP:0000597	Ophthalmoparesis	1	MGME1 CL E G H	92667	16205	ORPHA:352447	Progressive external ophthalmoplegia-myopathy-emaciation syndrome			11
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	MICOS13 CL E G H	125988	33702	ORPHA:67047	3-methylglutaconic aciduria type 3
HP:0000496	HP:0000597	Ophthalmoparesis	1	MICU1 CL E G H	10367	1530	ORPHA:401768	Proximal myopathy with extrapyramidal signs			14
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	MID1 CL E G H	4281	7095	ORPHA:2745	Opitz GBBB syndrome			57
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	MID2 CL E G H	11043	7096	OMIM:300928	MENTAL RETARDATION, X-LINKED 101; MRX101			7
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	MINPP1 CL E G H	9562	7102	ORPHA:284339	Pontocerebellar hypoplasia type 7			3
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	MINPP1 CL E G H	9562	7102	OMIM:619527	PONTOCEREBELLAR HYPOPLASIA, TYPE 16; PCH16			3
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	MKKS CL E G H	8195	7108	ORPHA:110	Bardet-Biedl syndrome			69
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	MKRN3 CL E G H	7681	7114	OMIM:176270	Prader-Willi syndrome			5
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	MKRN3-AS1 CL E G H	10108		OMIM:176270	Prader-Willi syndrome
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	MKS1 CL E G H	54903	7121	ORPHA:110	Bardet-Biedl syndrome			127
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	MKS1 CL E G H	54903	7121	ORPHA:475	Joubert syndrome			127
HP:0000496	HP:0000657	Oculomotor apraxia	1	MKS1 CL E G H	54903	7121	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent		127
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	MKS1 CL E G H	54903	7121	ORPHA:475	Joubert syndrome			127
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	MKS1 CL E G H	54903	7121	OMIM:617121	JOUBERT SYNDROME 28; JBTS28			127
HP:0000496	HP:0000657	Oculomotor apraxia	1	MKS1 CL E G H	54903	7121	OMIM:617121	JOUBERT SYNDROME 28; JBTS28			127
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	MKS1 CL E G H	54903	7121	OMIM:617121	JOUBERT SYNDROME 28; JBTS28			127
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	MKS1 CL E G H	54903	7121	ORPHA:220493	Joubert syndrome with ocular defect			127
HP:0000496	HP:0000657	Oculomotor apraxia	1	MKS1 CL E G H	54903	7121	ORPHA:220493	Joubert syndrome with ocular defect	HP:0040281 - Very frequent		127
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	MKS1 CL E G H	54903	7121	ORPHA:220493	Joubert syndrome with ocular defect			127
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	MKS1 CL E G H	54903	7121	OMIM:249000	Meckel syndrome 1			127
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome			1
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome			1
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome			1
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	MMACHC CL E G H	25974	24525	ORPHA:79282	Methylmalonic acidemia with homocystinuria, type cblC			101
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	MMACHC CL E G H	25974	24525	OMIM:277400	Methylmalonic aciduria and homocystinuria, Cblc type			101
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	MMADHC CL E G H	27249	25221	OMIM:277410	Methylmalonic aciduria and homocystinuria, Cbld type			50
HP:0000496	HP:0000570	Abnormal saccadic eye movements	1	MME CL E G H	4311	7154	OMIM:617018	SPINOCEREBELLAR ATAXIA 43; SCA43			18
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	MME CL E G H	4311	7154	OMIM:617018	SPINOCEREBELLAR ATAXIA 43; SCA43			18
HP:0000496	HP:0000570	Abnormal saccadic eye movements	1	MME CL E G H	4311	7154	ORPHA:497764	Spinocerebellar ataxia type 43			18
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	MMP23B CL E G H	8510	7171	ORPHA:1606	1p36 deletion syndrome
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	MMP23B CL E G H	8510	7171	ORPHA:1606	1p36 deletion syndrome
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	MN1 CL E G H	4330	7180	OMIM:618774	CEBALID SYNDROME; CEBALID			1
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	MN1 CL E G H	4330	7180	OMIM:618774	CEBALID SYNDROME; CEBALID			1
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	MOCS1 CL E G H	4337	7190	OMIM:252150	Molybdenum cofactor deficiency, complementation group A			96
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	MOCS2 CL E G H	4338	7193	OMIM:252160	Molybdenum cofactor deficiency, complementation group B			26
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	MPC1 CL E G H	51660	21606	OMIM:614741	Mitochondrial pyruvate carrier deficiency			6
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	MPDU1 CL E G H	9526	7207	OMIM:609180	Congenital disorder of glycosylation, type IF			32
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	MPDU1 CL E G H	9526	7207	OMIM:609180	Congenital disorder of glycosylation, type IF			32
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	MPDZ CL E G H	8777	7208	OMIM:615219	Hydrocephalus, congenital, 2, with or without brain or eye anomalies			29
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	MPLKIP CL E G H	136647	16002	ORPHA:33364	Trichothiodystrophy			9
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	MPLKIP CL E G H	136647	16002	ORPHA:33364	Trichothiodystrophy			9
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	MPLKIP CL E G H	136647	16002	OMIM:234050	Trichothiodystrophy 4, nonphotosensitive			9
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	MPV17 CL E G H	4358	7224	OMIM:256810	Navajo neurohepatopathy			56
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	MPZ CL E G H	4359	7225	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas			134
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	MPZ CL E G H	4359	7225	ORPHA:3115	Roussy-Lévy syndrome			134
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	MRAS CL E G H	22808	7227	ORPHA:648	Noonan syndrome
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	MRAS CL E G H	22808	7227	ORPHA:648	Noonan syndrome
HP:0000496	HP:0000570	Abnormal saccadic eye movements	1	MRE11 CL E G H	4361	7230	ORPHA:251347	Ataxia-telangiectasia-like disorder			532
HP:0000496	HP:0000617	Abnormality of ocular smooth pursuit	1	MRE11 CL E G H	4361	7230	ORPHA:251347	Ataxia-telangiectasia-like disorder	HP:0040283 - Occasional		532
HP:0000496	HP:0000657	Oculomotor apraxia	1	MRE11 CL E G H	4361	7230	ORPHA:251347	Ataxia-telangiectasia-like disorder	HP:0040282 - Frequent		532
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	MRE11 CL E G H	4361	7230	ORPHA:251347	Ataxia-telangiectasia-like disorder			532
HP:0000496	HP:0000570	Abnormal saccadic eye movements	1	MRE11 CL E G H	4361	7230	OMIM:604391	Ataxia-Telangiectasia-Like disorder 1			532
HP:0000496	HP:0000617	Abnormality of ocular smooth pursuit	1	MRE11 CL E G H	4361	7230	OMIM:604391	Ataxia-Telangiectasia-Like disorder 1			532
HP:0000496	HP:0000657	Oculomotor apraxia	1	MRE11 CL E G H	4361	7230	OMIM:604391	Ataxia-Telangiectasia-Like disorder 1	.		532
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	MRE11 CL E G H	4361	7230	OMIM:604391	Ataxia-Telangiectasia-Like disorder 1			532
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	MRPL12 CL E G H	6182	10378	OMIM:618951	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 45; COXPD45			11
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	MRPS2 CL E G H	51116	14495	OMIM:617950	Combined oxidative phosphorylation deficiency 36
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	MRPS34 CL E G H	65993	16618	OMIM:617664	Combined oxidative phosphorylation deficiency 32			1
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	MRPS34 CL E G H	65993	16618	OMIM:617664	Combined oxidative phosphorylation deficiency 32			1
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	MTFMT CL E G H	123263	29666	OMIM:614947	Combined oxidative phosphorylation deficiency 15			29
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	MTFMT CL E G H	123263	29666	OMIM:614947	Combined oxidative phosphorylation deficiency 15			29
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	MTFMT CL E G H	123263	29666	ORPHA:255241	Leigh syndrome with leukodystrophy			29
HP:0000496	HP:0000597	Ophthalmoparesis	1	MTFMT CL E G H	123263	29666	ORPHA:255241	Leigh syndrome with leukodystrophy			29
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	MTFMT CL E G H	123263	29666	ORPHA:255241	Leigh syndrome with leukodystrophy			29
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	MTFMT CL E G H	123263	29666	OMIM:618248	Mitochondrial complex I deficiency, nuclear type 27			29
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	MTHFR CL E G H	4524	7436	ORPHA:395	Homocystinuria due to methylene tetrahydrofolate reductase deficiency			183
HP:0000496	HP:0000597	Ophthalmoparesis	1	MTM1 CL E G H	4534	7448	OMIM:310400	Myopathy, centronuclear, X-linked			185
HP:0000496	HP:0000597	Ophthalmoparesis	1	MTMR14 CL E G H	64419	26190	ORPHA:169189	Autosomal dominant centronuclear myopathy			7
HP:0000496	HP:0000597	Ophthalmoparesis	1	MTMR14 CL E G H	64419	26190	OMIM:160150	Myopathy, centronuclear, autosomal dominant			7
HP:0000496	HP:0000597	Ophthalmoparesis	1	MTOR CL E G H	2475	3942	ORPHA:99802	Hemimegalencephaly			68
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	MTOR CL E G H	2475	3942	ORPHA:457485	Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome			68
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	MTOR CL E G H	2475	3942	OMIM:616638	Smith-Kingsmore syndrome			68
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	MTPAP CL E G H	55149	25532	ORPHA:254343	Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome			19
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	MTPAP CL E G H	55149	25532	OMIM:613672	Spastic ataxia 4, autosomal recessive			19
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	MTR CL E G H	4548	7468	OMIM:250940	Homocystinuria-megaloblastic anemia, cblg Complementation type			217
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	MTRFR CL E G H	91574	26784	ORPHA:320375	Autosomal recessive spastic paraplegia type 55
HP:0000496	HP:0000597	Ophthalmoparesis	1	MTRFR CL E G H	91574	26784	ORPHA:320375	Autosomal recessive spastic paraplegia type 55
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	MTRFR CL E G H	91574	26784	ORPHA:254930	Combined oxidative phosphorylation defect type 7
HP:0000496	HP:0000597	Ophthalmoparesis	1	MTRFR CL E G H	91574	26784	ORPHA:254930	Combined oxidative phosphorylation defect type 7
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	MTRFR CL E G H	91574	26784	ORPHA:254930	Combined oxidative phosphorylation defect type 7
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	MTRFR CL E G H	91574	26784	OMIM:613559	Combined oxidative phosphorylation deficiency 7
HP:0000496	HP:0000597	Ophthalmoparesis	1	MTRFR CL E G H	91574	26784	OMIM:613559	Combined oxidative phosphorylation deficiency 7
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	MTRFR CL E G H	91574	26784	OMIM:613559	Combined oxidative phosphorylation deficiency 7
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	MTRFR CL E G H	91574	26784	OMIM:615035	Spastic paraplegia 55, autosomal recessive
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	MTRFR CL E G H	91574	26784	OMIM:615035	Spastic paraplegia 55, autosomal recessive
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	MTRR CL E G H	4552	7473	OMIM:236270	Homocystinuria-megaloblastic anemia, cbl E type			88
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	MTRR CL E G H	4552	7473	ORPHA:2169	Methylcobalamin deficiency type cblE			88
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	MTSS2 CL E G H	92154	25094	OMIM:620086
HP:0000496	HP:0000597	Ophthalmoparesis	1	MTTP CL E G H	4547	7467	ORPHA:14	Abetalipoproteinemia			81
HP:0000496	HP:0000597	Ophthalmoparesis	1	MUSK CL E G H	4593	7525	OMIM:616325	Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency			72
HP:0000496	HP:0000597	Ophthalmoparesis	1	MUSK CL E G H	4593	7525	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent		72
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	MVK CL E G H	4598	7530	OMIM:610377	Mevalonic aciduria			150
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	MYF5 CL E G H	4617	7565	OMIM:618155	Ophthalmoplegia, external, with rib and vertebral anomalies
HP:0000496	HP:0000597	Ophthalmoparesis	1	MYF5 CL E G H	4617	7565	OMIM:618155	Ophthalmoplegia, external, with rib and vertebral anomalies
HP:0000496	HP:0000597	Ophthalmoparesis	1	MYF6 CL E G H	4618	7566	ORPHA:169189	Autosomal dominant centronuclear myopathy			19
HP:0000496	HP:0000597	Ophthalmoparesis	1	MYH2 CL E G H	4620	7572	OMIM:605637	Myopathy, proximal, and ophthalmoplegia			105
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	MYH3 CL E G H	4621	7573	OMIM:193700	Arthrogryposis, distal, type 2A			166
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	MYH3 CL E G H	4621	7573	ORPHA:2990	Autosomal recessive multiple pterygium syndrome			166
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	MYH3 CL E G H	4621	7573	ORPHA:2053	Freeman-Sheldon syndrome			166
HP:0000496	HP:0000597	Ophthalmoparesis	1	MYH7 CL E G H	4625	7577	OMIM:255310	Myopathy, congenital, with fiber-type disproportion			1269
HP:0000496	HP:0000597	Ophthalmoparesis	1	MYL2 CL E G H	4633	7583	ORPHA:2020	Congenital fiber-type disproportion myopathy			131
HP:0000496	HP:0000597	Ophthalmoparesis	1	MYMK CL E G H	389827	33778	OMIM:254940	Carey-Fineman-Ziter syndrome			5
HP:0000496	HP:0011347	Abnormality of ocular abduction	1	MYMK CL E G H	389827	33778	ORPHA:1358	Carey-Fineman-Ziter syndrome			5
HP:0000496	HP:0011347	Abnormality of ocular abduction	1	MYMX CL E G H	101929726	52391	ORPHA:1358	Carey-Fineman-Ziter syndrome
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	MYO1H CL E G H	283446	13879	OMIM:619482	CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, 2, AND AUTONOMIC DYSFUNCTION; CCHS2
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	MYO5A CL E G H	4644	7602	ORPHA:79476	Griscelli syndrome type 1			35
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	MYO5A CL E G H	4644	7602	ORPHA:33445	Neuroectodermal melanolysosomal disease			35
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	MYO5A CL E G H	4644	7602	ORPHA:33445	Neuroectodermal melanolysosomal disease			35
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	MYO7A CL E G H	4647	7606	ORPHA:231178	Usher syndrome type 2			516
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	MYO7A CL E G H	4647	7606	OMIM:276900	Usher syndrome, type I			516
HP:0000496	HP:0000597	Ophthalmoparesis	1	MYO9A CL E G H	4649	7608	OMIM:618198	Myasthenic syndrome, congenital, 24, presynaptic
HP:0000496	HP:0000657	Oculomotor apraxia	1	MYO9A CL E G H	4649	7608	OMIM:618198	Myasthenic syndrome, congenital, 24, presynaptic	.
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	MYO9A CL E G H	4649	7608	OMIM:618198	Myasthenic syndrome, congenital, 24, presynaptic
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	MYO9A CL E G H	4649	7608	ORPHA:98914	Presynaptic congenital myasthenic syndromes
HP:0000496	HP:0000597	Ophthalmoparesis	1	MYO9A CL E G H	4649	7608	ORPHA:98914	Presynaptic congenital myasthenic syndromes
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	MYO9A CL E G H	4649	7608	ORPHA:98914	Presynaptic congenital myasthenic syndromes
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	MYOD1 CL E G H	4654	7611	OMIM:618975	MYOPATHY, CONGENITAL, WITH DIAPHRAGMATIC DEFECTS, RESPIRATORY INSUFFICIENCY, AND DYSMORPHIC FACIES; MYODRIF
HP:0000496	HP:0000570	Abnormal saccadic eye movements	1	MYORG CL E G H	57462	19918	OMIM:618317	Basal ganglia calcification, idiopathic, 7, autosomal recessive
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	NAA10 CL E G H	8260	18704	ORPHA:568	Microphthalmia, Lenz type			23
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	NADK2 CL E G H	133686	26404	OMIM:616034	2,4-Dienoyl-Coa reductase deficiency			14
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	NADK2 CL E G H	133686	26404	ORPHA:431361	Progressive encephalopathy with leukodystrophy due to DECR deficiency	HP:0040282 - Frequent		14
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	NAGA CL E G H	4668	7631	ORPHA:79279	Alpha-N-acetylgalactosaminidase deficiency type 1			47
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	NAGA CL E G H	4668	7631	ORPHA:79279	Alpha-N-acetylgalactosaminidase deficiency type 1			47
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	NAGA CL E G H	4668	7631	ORPHA:79281	Alpha-N-acetylgalactosaminidase deficiency type 3			47
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	NAGA CL E G H	4668	7631	OMIM:609241	Schindler disease, type I			47
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	NAGA CL E G H	4668	7631	OMIM:609241	Schindler disease, type I			47
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	NALCN CL E G H	259232	19082	OMIM:616266	Congenital contractures of the limbs and face, hypotonia, and developmental delay			48
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	NALCN CL E G H	259232	19082	ORPHA:2053	Freeman-Sheldon syndrome			48
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	NALCN CL E G H	259232	19082	OMIM:615419	Hypotonia, infantile, with psychomotor retardation and characteristic facies 1			48
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	NALCN CL E G H	259232	19082	OMIM:615419	Hypotonia, infantile, with psychomotor retardation and characteristic facies 1			48
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	NALCN CL E G H	259232	19082	ORPHA:371364	Hypotonia-speech impairment-severe cognitive delay syndrome			48
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	NALCN CL E G H	259232	19082	ORPHA:371364	Hypotonia-speech impairment-severe cognitive delay syndrome			48
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	NANS CL E G H	54187	19237	OMIM:610442	Spondyloepimetaphyseal dysplasia, Genevieve type			8
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	NANS CL E G H	54187	19237	OMIM:610442	Spondyloepimetaphyseal dysplasia, Genevieve type			8
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	NARS2 CL E G H	79731	26274	OMIM:616239	Combined oxidative phosphorylation deficiency 24			34
HP:0000496	HP:0000597	Ophthalmoparesis	1	NAXD CL E G H	55739	25576	OMIM:618321	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	NAXE CL E G H	128240	18453	OMIM:617186	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1			9
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	NAXE CL E G H	128240	18453	OMIM:617186	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1			9
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	NBAS CL E G H	51594	15625	OMIM:614800	Short stature, optic nerve atrophy, and pelger-huet anomaly			25
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	NCAPG2 CL E G H	54892	21904	OMIM:618460	Khan-Khan-Katsanis syndrome			2
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	NCAPG2 CL E G H	54892	21904	OMIM:618460	Khan-Khan-Katsanis syndrome			2
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	NCDN CL E G H	23154	17597	OMIM:619373	NEURODEVELOPMENTAL DISORDER WITH INFANTILE EPILEPTIC SPASMS; NEDIES
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome			13
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome			13
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	ND1 CL E G H	4535	7455	ORPHA:2609	Isolated complex I deficiency
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	ND1 CL E G H	4535	7455	ORPHA:2609	Isolated complex I deficiency
HP:0000496	HP:0000597	Ophthalmoparesis	1	ND1 CL E G H	4535	7455	ORPHA:550	MELAS
HP:0000496	HP:0000597	Ophthalmoparesis	1	ND1 CL E G H	4535	7455	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040282 - Frequent
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	ND1 CL E G H	4535	7455	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0000496	HP:0000597	Ophthalmoparesis	1	ND1 CL E G H	4535	7455	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	ND2 CL E G H	4536	7456	ORPHA:2609	Isolated complex I deficiency
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	ND2 CL E G H	4536	7456	ORPHA:2609	Isolated complex I deficiency
HP:0000496	HP:0000597	Ophthalmoparesis	1	ND2 CL E G H	4536	7456	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040282 - Frequent
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	ND2 CL E G H	4536	7456	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	ND3 CL E G H	4537	7458	ORPHA:2609	Isolated complex I deficiency
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	ND3 CL E G H	4537	7458	ORPHA:2609	Isolated complex I deficiency
HP:0000496	HP:0000597	Ophthalmoparesis	1	ND3 CL E G H	4537	7458	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040282 - Frequent
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	ND3 CL E G H	4537	7458	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0000496	HP:0000597	Ophthalmoparesis	1	ND4 CL E G H	4538	7459	ORPHA:550	MELAS
HP:0000496	HP:0000597	Ophthalmoparesis	1	ND4 CL E G H	4538	7459	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040282 - Frequent
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	ND4 CL E G H	4538	7459	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0000496	HP:0000597	Ophthalmoparesis	1	ND5 CL E G H	4540	7461	ORPHA:550	MELAS
HP:0000496	HP:0000597	Ophthalmoparesis	1	ND5 CL E G H	4540	7461	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040282 - Frequent
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	ND5 CL E G H	4540	7461	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0000496	HP:0000597	Ophthalmoparesis	1	ND5 CL E G H	4540	7461	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0000496	HP:0000597	Ophthalmoparesis	1	ND6 CL E G H	4541	7462	ORPHA:550	MELAS
HP:0000496	HP:0000597	Ophthalmoparesis	1	ND6 CL E G H	4541	7462	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040282 - Frequent
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	ND6 CL E G H	4541	7462	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0000496	HP:0000597	Ophthalmoparesis	1	ND6 CL E G H	4541	7462	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	NDN CL E G H	4692	7675	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	NDN CL E G H	4692	7675	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	NDN CL E G H	4692	7675	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	NDNF CL E G H	79625	26256	ORPHA:478	Kallmann syndrome
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	NDP CL E G H	4693	7678	ORPHA:190	Coats disease			39
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	NDP CL E G H	4693	7678	OMIM:305390	Exudative vitreoretinopathy 2, X-linked			39
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	NDP CL E G H	4693	7678	ORPHA:649	Norrie disease			39
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	NDP CL E G H	4693	7678	ORPHA:91495	Persistent hyperplastic primary vitreous			39
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	NDST1 CL E G H	3340	7680	OMIM:616116	Mental retardation, autosomal recessive 46			27
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	NDST1 CL E G H	3340	7680	OMIM:616116	Mental retardation, autosomal recessive 46			27
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	NDUFA1 CL E G H	4694	7683	ORPHA:2609	Isolated complex I deficiency			7
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	NDUFA1 CL E G H	4694	7683	ORPHA:2609	Isolated complex I deficiency			7
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	NDUFA1 CL E G H	4694	7683	OMIM:301020	Mitochondrial complex I deficiency, nuclear type 12			7
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	NDUFA10 CL E G H	4705	7684	ORPHA:255241	Leigh syndrome with leukodystrophy			91
HP:0000496	HP:0000597	Ophthalmoparesis	1	NDUFA10 CL E G H	4705	7684	ORPHA:255241	Leigh syndrome with leukodystrophy			91
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	NDUFA10 CL E G H	4705	7684	ORPHA:255241	Leigh syndrome with leukodystrophy			91
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	NDUFA11 CL E G H	126328	20371	ORPHA:2609	Isolated complex I deficiency			32
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	NDUFA11 CL E G H	126328	20371	ORPHA:2609	Isolated complex I deficiency			32
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	NDUFA11 CL E G H	126328	20371	OMIM:618236	Mitochondrial complex I deficiency, nuclear type 14			32
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	NDUFA12 CL E G H	55967	23987	ORPHA:255241	Leigh syndrome with leukodystrophy			7
HP:0000496	HP:0000597	Ophthalmoparesis	1	NDUFA12 CL E G H	55967	23987	ORPHA:255241	Leigh syndrome with leukodystrophy			7
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	NDUFA12 CL E G H	55967	23987	ORPHA:255241	Leigh syndrome with leukodystrophy			7
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	NDUFA13 CL E G H	51079	17194	ORPHA:255241	Leigh syndrome with leukodystrophy			3
HP:0000496	HP:0000597	Ophthalmoparesis	1	NDUFA13 CL E G H	51079	17194	ORPHA:255241	Leigh syndrome with leukodystrophy			3
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	NDUFA13 CL E G H	51079	17194	ORPHA:255241	Leigh syndrome with leukodystrophy			3
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	NDUFA2 CL E G H	4695	7685	ORPHA:255241	Leigh syndrome with leukodystrophy			19
HP:0000496	HP:0000597	Ophthalmoparesis	1	NDUFA2 CL E G H	4695	7685	ORPHA:255241	Leigh syndrome with leukodystrophy			19
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	NDUFA2 CL E G H	4695	7685	ORPHA:255241	Leigh syndrome with leukodystrophy			19
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	NDUFA4 CL E G H	4697	7687	ORPHA:255241	Leigh syndrome with leukodystrophy			4
HP:0000496	HP:0000597	Ophthalmoparesis	1	NDUFA4 CL E G H	4697	7687	ORPHA:255241	Leigh syndrome with leukodystrophy			4
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	NDUFA4 CL E G H	4697	7687	ORPHA:255241	Leigh syndrome with leukodystrophy			4
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	NDUFA6 CL E G H	4700	7690	ORPHA:2609	Isolated complex I deficiency			1
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	NDUFA6 CL E G H	4700	7690	ORPHA:2609	Isolated complex I deficiency			1
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	NDUFA9 CL E G H	4704	7693	ORPHA:255241	Leigh syndrome with leukodystrophy			27
HP:0000496	HP:0000597	Ophthalmoparesis	1	NDUFA9 CL E G H	4704	7693	ORPHA:255241	Leigh syndrome with leukodystrophy			27
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	NDUFA9 CL E G H	4704	7693	ORPHA:255241	Leigh syndrome with leukodystrophy			27
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	NDUFAF1 CL E G H	51103	18828	ORPHA:2609	Isolated complex I deficiency			40
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	NDUFAF1 CL E G H	51103	18828	ORPHA:2609	Isolated complex I deficiency			40
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	NDUFAF2 CL E G H	91942	28086	ORPHA:2609	Isolated complex I deficiency			26
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	NDUFAF2 CL E G H	91942	28086	ORPHA:2609	Isolated complex I deficiency			26
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	NDUFAF2 CL E G H	91942	28086	ORPHA:255241	Leigh syndrome with leukodystrophy			26
HP:0000496	HP:0000597	Ophthalmoparesis	1	NDUFAF2 CL E G H	91942	28086	ORPHA:255241	Leigh syndrome with leukodystrophy			26
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	NDUFAF2 CL E G H	91942	28086	ORPHA:255241	Leigh syndrome with leukodystrophy			26
HP:0000496	HP:0000597	Ophthalmoparesis	1	NDUFAF2 CL E G H	91942	28086	OMIM:618233	Mitochondrial complex I deficiency, nuclear type 10			26
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	NDUFAF2 CL E G H	91942	28086	OMIM:618233	Mitochondrial complex I deficiency, nuclear type 10			26
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	NDUFAF3 CL E G H	25915	29918	ORPHA:2609	Isolated complex I deficiency			31
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	NDUFAF3 CL E G H	25915	29918	ORPHA:2609	Isolated complex I deficiency			31
HP:0000496	HP:0000570	Abnormal saccadic eye movements	1	NDUFAF3 CL E G H	25915	29918	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040283 - Occasional		31
HP:0000496	HP:0000597	Ophthalmoparesis	1	NDUFAF3 CL E G H	25915	29918	ORPHA:70474	Leigh syndrome with cardiomyopathy			31
HP:0000496	HP:0007941	Limited extraocular movements	1	NDUFAF3 CL E G H	25915	29918	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040282 - Frequent		31
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	NDUFAF3 CL E G H	25915	29918	ORPHA:70474	Leigh syndrome with cardiomyopathy			31
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	NDUFAF4 CL E G H	29078	21034	ORPHA:2609	Isolated complex I deficiency			50
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	NDUFAF4 CL E G H	29078	21034	ORPHA:2609	Isolated complex I deficiency			50
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	NDUFAF4 CL E G H	29078	21034	OMIM:618237	Mitochondrial complex I deficiency, nuclear type 15			50
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	NDUFAF5 CL E G H	79133	15899	ORPHA:2609	Isolated complex I deficiency			34
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	NDUFAF5 CL E G H	79133	15899	ORPHA:2609	Isolated complex I deficiency			34
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	NDUFAF5 CL E G H	79133	15899	ORPHA:255241	Leigh syndrome with leukodystrophy			34
HP:0000496	HP:0000597	Ophthalmoparesis	1	NDUFAF5 CL E G H	79133	15899	ORPHA:255241	Leigh syndrome with leukodystrophy			34
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	NDUFAF5 CL E G H	79133	15899	ORPHA:255241	Leigh syndrome with leukodystrophy			34
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	NDUFAF5 CL E G H	79133	15899	OMIM:618238	Mitochondrial complex I deficiency, nuclear type 16			34
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	NDUFAF6 CL E G H	137682	28625	ORPHA:255241	Leigh syndrome with leukodystrophy			39
HP:0000496	HP:0000597	Ophthalmoparesis	1	NDUFAF6 CL E G H	137682	28625	ORPHA:255241	Leigh syndrome with leukodystrophy			39
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	NDUFAF6 CL E G H	137682	28625	ORPHA:255241	Leigh syndrome with leukodystrophy			39
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	NDUFAF8 CL E G H	284184	33551	ORPHA:2609	Isolated complex I deficiency
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	NDUFAF8 CL E G H	284184	33551	ORPHA:2609	Isolated complex I deficiency
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	NDUFB10 CL E G H	4716	7696	ORPHA:2609	Isolated complex I deficiency
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	NDUFB10 CL E G H	4716	7696	ORPHA:2609	Isolated complex I deficiency
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	NDUFB11 CL E G H	54539	20372	ORPHA:2609	Isolated complex I deficiency			3
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	NDUFB11 CL E G H	54539	20372	ORPHA:2609	Isolated complex I deficiency			3
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	NDUFB11 CL E G H	54539	20372	OMIM:300952	Linear skin defects with multiple congenital anomalies 3			3
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	NDUFB11 CL E G H	54539	20372	OMIM:300952	Linear skin defects with multiple congenital anomalies 3			3
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	NDUFB3 CL E G H	4709	7698	ORPHA:2609	Isolated complex I deficiency			9
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	NDUFB3 CL E G H	4709	7698	ORPHA:2609	Isolated complex I deficiency			9
HP:0000496	HP:0000570	Abnormal saccadic eye movements	1	NDUFB8 CL E G H	4714	7703	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040283 - Occasional
HP:0000496	HP:0000597	Ophthalmoparesis	1	NDUFB8 CL E G H	4714	7703	ORPHA:70474	Leigh syndrome with cardiomyopathy
HP:0000496	HP:0007941	Limited extraocular movements	1	NDUFB8 CL E G H	4714	7703	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040282 - Frequent
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	NDUFB8 CL E G H	4714	7703	ORPHA:70474	Leigh syndrome with cardiomyopathy
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	NDUFB9 CL E G H	4715	7704	ORPHA:2609	Isolated complex I deficiency			16
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	NDUFB9 CL E G H	4715	7704	ORPHA:2609	Isolated complex I deficiency			16
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	NDUFS1 CL E G H	4719	7707	ORPHA:2609	Isolated complex I deficiency			81
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	NDUFS1 CL E G H	4719	7707	ORPHA:2609	Isolated complex I deficiency			81
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	NDUFS1 CL E G H	4719	7707	ORPHA:255241	Leigh syndrome with leukodystrophy			81
HP:0000496	HP:0000597	Ophthalmoparesis	1	NDUFS1 CL E G H	4719	7707	ORPHA:255241	Leigh syndrome with leukodystrophy			81
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	NDUFS1 CL E G H	4719	7707	ORPHA:255241	Leigh syndrome with leukodystrophy			81
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	NDUFS1 CL E G H	4719	7707	OMIM:618226	Mitochondrial complex I deficiency, nuclear type 5			81
HP:0000496	HP:0000597	Ophthalmoparesis	1	NDUFS1 CL E G H	4719	7707	OMIM:618226	Mitochondrial complex I deficiency, nuclear type 5			81
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	NDUFS1 CL E G H	4719	7707	OMIM:618226	Mitochondrial complex I deficiency, nuclear type 5			81
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	NDUFS2 CL E G H	4720	7708	ORPHA:2609	Isolated complex I deficiency			65
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	NDUFS2 CL E G H	4720	7708	ORPHA:2609	Isolated complex I deficiency			65
HP:0000496	HP:0000570	Abnormal saccadic eye movements	1	NDUFS2 CL E G H	4720	7708	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040283 - Occasional		65
HP:0000496	HP:0000597	Ophthalmoparesis	1	NDUFS2 CL E G H	4720	7708	ORPHA:70474	Leigh syndrome with cardiomyopathy			65
HP:0000496	HP:0007941	Limited extraocular movements	1	NDUFS2 CL E G H	4720	7708	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040282 - Frequent		65
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	NDUFS2 CL E G H	4720	7708	ORPHA:70474	Leigh syndrome with cardiomyopathy			65
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	NDUFS2 CL E G H	4720	7708	ORPHA:255241	Leigh syndrome with leukodystrophy			65
HP:0000496	HP:0000597	Ophthalmoparesis	1	NDUFS2 CL E G H	4720	7708	ORPHA:255241	Leigh syndrome with leukodystrophy			65
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	NDUFS2 CL E G H	4720	7708	ORPHA:255241	Leigh syndrome with leukodystrophy			65
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	NDUFS2 CL E G H	4720	7708	OMIM:618228	Mitochondrial complex I deficiency, nuclear type 6			65
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	NDUFS3 CL E G H	4722	7710	ORPHA:2609	Isolated complex I deficiency			22
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	NDUFS3 CL E G H	4722	7710	ORPHA:2609	Isolated complex I deficiency			22
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	NDUFS3 CL E G H	4722	7710	ORPHA:255241	Leigh syndrome with leukodystrophy			22
HP:0000496	HP:0000597	Ophthalmoparesis	1	NDUFS3 CL E G H	4722	7710	ORPHA:255241	Leigh syndrome with leukodystrophy			22
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	NDUFS3 CL E G H	4722	7710	ORPHA:255241	Leigh syndrome with leukodystrophy			22
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	NDUFS4 CL E G H	4724	7711	ORPHA:2609	Isolated complex I deficiency			27
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	NDUFS4 CL E G H	4724	7711	ORPHA:2609	Isolated complex I deficiency			27
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	NDUFS4 CL E G H	4724	7711	ORPHA:255241	Leigh syndrome with leukodystrophy			27
HP:0000496	HP:0000597	Ophthalmoparesis	1	NDUFS4 CL E G H	4724	7711	ORPHA:255241	Leigh syndrome with leukodystrophy			27
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	NDUFS4 CL E G H	4724	7711	ORPHA:255241	Leigh syndrome with leukodystrophy			27
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	NDUFS4 CL E G H	4724	7711	OMIM:252010	Mitochondrial complex I deficiency, nuclear type 1			27
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	NDUFS4 CL E G H	4724	7711	OMIM:252010	Mitochondrial complex I deficiency, nuclear type 1			27
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	NDUFS6 CL E G H	4726	7713	ORPHA:2609	Isolated complex I deficiency			21
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	NDUFS6 CL E G H	4726	7713	ORPHA:2609	Isolated complex I deficiency			21
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	NDUFS6 CL E G H	4726	7713	OMIM:618232	Mitochondrial complex I deficiency, nuclear type 9			21
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	NDUFS7 CL E G H	374291	7714	ORPHA:2609	Isolated complex I deficiency			38
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	NDUFS7 CL E G H	374291	7714	ORPHA:2609	Isolated complex I deficiency			38
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	NDUFS7 CL E G H	374291	7714	ORPHA:255241	Leigh syndrome with leukodystrophy			38
HP:0000496	HP:0000597	Ophthalmoparesis	1	NDUFS7 CL E G H	374291	7714	ORPHA:255241	Leigh syndrome with leukodystrophy			38
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	NDUFS7 CL E G H	374291	7714	ORPHA:255241	Leigh syndrome with leukodystrophy			38
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	NDUFS8 CL E G H	4728	7715	ORPHA:2609	Isolated complex I deficiency			42
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	NDUFS8 CL E G H	4728	7715	ORPHA:2609	Isolated complex I deficiency			42
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	NDUFS8 CL E G H	4728	7715	ORPHA:255241	Leigh syndrome with leukodystrophy			42
HP:0000496	HP:0000597	Ophthalmoparesis	1	NDUFS8 CL E G H	4728	7715	ORPHA:255241	Leigh syndrome with leukodystrophy			42
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	NDUFS8 CL E G H	4728	7715	ORPHA:255241	Leigh syndrome with leukodystrophy			42
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	NDUFS8 CL E G H	4728	7715	OMIM:618222	Mitochondrial complex I deficiency, nuclear type 2			42
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	NDUFV1 CL E G H	4723	7716	ORPHA:2609	Isolated complex I deficiency			74
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	NDUFV1 CL E G H	4723	7716	ORPHA:2609	Isolated complex I deficiency			74
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	NDUFV1 CL E G H	4723	7716	ORPHA:255241	Leigh syndrome with leukodystrophy			74
HP:0000496	HP:0000597	Ophthalmoparesis	1	NDUFV1 CL E G H	4723	7716	ORPHA:255241	Leigh syndrome with leukodystrophy			74
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	NDUFV1 CL E G H	4723	7716	ORPHA:255241	Leigh syndrome with leukodystrophy			74
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	NDUFV1 CL E G H	4723	7716	OMIM:618225	Mitochondrial complex I deficiency, nuclear type 4			74
HP:0000496	HP:0000597	Ophthalmoparesis	1	NDUFV1 CL E G H	4723	7716	OMIM:618225	Mitochondrial complex I deficiency, nuclear type 4			74
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	NDUFV2 CL E G H	4729	7717	ORPHA:2609	Isolated complex I deficiency			27
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	NDUFV2 CL E G H	4729	7717	ORPHA:2609	Isolated complex I deficiency			27
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	NDUFV2 CL E G H	4729	7717	ORPHA:255241	Leigh syndrome with leukodystrophy			27
HP:0000496	HP:0000597	Ophthalmoparesis	1	NDUFV2 CL E G H	4729	7717	ORPHA:255241	Leigh syndrome with leukodystrophy			27
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	NDUFV2 CL E G H	4729	7717	ORPHA:255241	Leigh syndrome with leukodystrophy			27
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	NDUFV2 CL E G H	4729	7717	OMIM:618229	Mitochondrial complex I deficiency, nuclear type 7			27
HP:0000496	HP:0000597	Ophthalmoparesis	1	NEB CL E G H	4703	7720	ORPHA:171433	Intermediate nemaline myopathy			745
HP:0000496	HP:0000597	Ophthalmoparesis	1	NEB CL E G H	4703	7720	ORPHA:171430	Severe congenital nemaline myopathy			745
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	NECAP1 CL E G H	25977	24539	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040284 - Very rare		1
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	NEDD4L CL E G H	23327	7728	OMIM:617201	Periventricular nodular heterotopia 7			30
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	NEFL CL E G H	4747	7739	OMIM:617882	Charcot-Marie-Tooth disease, dominant intermediate G			118
HP:0000496	HP:0000597	Ophthalmoparesis	1	NEK2 CL E G H	4751	7745	ORPHA:791	Retinitis pigmentosa			5
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	NEK2 CL E G H	4751	7745	ORPHA:791	Retinitis pigmentosa			5
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	NEK9 CL E G H	91754	18591	OMIM:614262	Arthrogryposis, perthes disease, and upward gaze palsy			9
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	NELFA CL E G H	7469	12768	ORPHA:280	Wolf-Hirschhorn syndrome
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	NELFA CL E G H	7469	12768	ORPHA:280	Wolf-Hirschhorn syndrome
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	NEU1 CL E G H	4758	7758	ORPHA:93400	Congenital sialidosis type 2			43
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	NEU1 CL E G H	4758	7758	ORPHA:93400	Congenital sialidosis type 2			43
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	NEU1 CL E G H	4758	7758	ORPHA:93399	Juvenile sialidosis type 2			43
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	NEU1 CL E G H	4758	7758	ORPHA:93399	Juvenile sialidosis type 2			43
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	NEU1 CL E G H	4758	7758	OMIM:256550	Neuraminidase deficiency			43
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	NEU1 CL E G H	4758	7758	ORPHA:812	Sialidosis type 1			43
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	NEUROD2 CL E G H	4761	7763	ORPHA:1934	Early infantile epileptic encephalopathy
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	NEUROD2 CL E G H	4761	7763	OMIM:618374	Epileptic encephalopathy, early infantile, 72
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	NEXMIF CL E G H	340533	29433	OMIM:300912	Mental retardation, X-linked 98			52
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	NEXMIF CL E G H	340533	29433	ORPHA:85277	X-linked intellectual disability, Cantagrel type			52
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	NF1 CL E G H	4763	7765	ORPHA:97685	17q11 microdeletion syndrome			1952
HP:0000496	HP:0000597	Ophthalmoparesis	1	NF2 CL E G H	4771	7773	ORPHA:2495	Meningioma			220
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	NFIX CL E G H	4784	7788	ORPHA:447980	19p13.3 microduplication syndrome			40
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	NFIX CL E G H	4784	7788	ORPHA:420179	Malan overgrowth syndrome			40
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	NFIX CL E G H	4784	7788	ORPHA:420179	Malan overgrowth syndrome			40
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	NFIX CL E G H	4784	7788	OMIM:614753	Sotos syndrome 2			40
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	NFIX CL E G H	4784	7788	OMIM:614753	Sotos syndrome 2			40
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	NGLY1 CL E G H	55768	17646	ORPHA:404454	Alacrimia-choreoathetosis-liver dysfunction syndrome			32
HP:0000496	HP:0000657	Oculomotor apraxia	1	NGLY1 CL E G H	55768	17646	ORPHA:404454	Alacrimia-choreoathetosis-liver dysfunction syndrome	HP:0040283 - Occasional		32
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	NGLY1 CL E G H	55768	17646	OMIM:615273	Congenital disorder of deglycosylation			32
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	NHLRC2 CL E G H	374354	24731	OMIM:618278	Fibrosis, neurodegeneration, and cerebral angiomatosis
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	NHS CL E G H	4810	7820	ORPHA:627	Nance-Horan syndrome			88
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	NHS CL E G H	4810	7820	OMIM:302350	Nance-Horan syndrome			88
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	NHS CL E G H	4810	7820	ORPHA:627	Nance-Horan syndrome			88
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	NIPBL CL E G H	25836	28862	ORPHA:199	Cornelia de Lange syndrome			494
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	NIPBL CL E G H	25836	28862	ORPHA:199	Cornelia de Lange syndrome			494
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	NIPBL CL E G H	25836	28862	OMIM:122470	Cornelia de Lange syndrome 1			494
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	NIPBL CL E G H	25836	28862	OMIM:122470	Cornelia de Lange syndrome 1			494
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	NKX6-2 CL E G H	84504	19321	ORPHA:527497	NKX6-2-related autosomal recessive hypomyelinating leukodystrophy			2
HP:0000496	HP:0000570	Abnormal saccadic eye movements	1	NKX6-2 CL E G H	84504	19321	ORPHA:527497	NKX6-2-related autosomal recessive hypomyelinating leukodystrophy			2
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	NKX6-2 CL E G H	84504	19321	ORPHA:527497	NKX6-2-related autosomal recessive hypomyelinating leukodystrophy			2
HP:0000496	HP:0000570	Abnormal saccadic eye movements	1	NKX6-2 CL E G H	84504	19321	OMIM:617560	Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy			2
HP:0000496	HP:0007941	Limited extraocular movements	1	NKX6-2 CL E G H	84504	19321	OMIM:617560	Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy			2
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	NKX6-2 CL E G H	84504	19321	OMIM:617560	Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy			2
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	NMNAT1 CL E G H	64802	17877	ORPHA:65	Leber congenital amaurosis			15
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	NMNAT1 CL E G H	64802	17877	OMIM:608553	Leber congenital amaurosis 9			15
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	NMNAT1 CL E G H	64802	17877	OMIM:619260	SPONDYLOEPIPHYSEAL DYSPLASIA, SENSORINEURAL HEARING LOSS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND LEBER CONGENITAL AMAUROSIS; SHILCA			15
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	NMNAT1 CL E G H	64802	17877	OMIM:619260	SPONDYLOEPIPHYSEAL DYSPLASIA, SENSORINEURAL HEARING LOSS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND LEBER CONGENITAL AMAUROSIS; SHILCA			15
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	NODAL CL E G H	4838	7865	ORPHA:280200	Microform holoprosencephaly			45
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	NOG CL E G H	9241	7866	OMIM:186500	Multiple synostoses syndrome 1			22
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	NOG CL E G H	9241	7866	ORPHA:3250	Proximal symphalangism			22
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	NONO CL E G H	4841	7871	ORPHA:466791	Macrocephaly-intellectual disability-left ventricular non compaction syndrome			10
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	NONO CL E G H	4841	7871	OMIM:300967	MENTAL RETARDATION, X-LINKED, SYNDROMIC 34; MRXS34			10
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	NOP56 CL E G H	10528	15911	OMIM:614153	Spinocerebellar ataxia 36			9
HP:0000496	HP:0000570	Abnormal saccadic eye movements	1	NOP56 CL E G H	10528	15911	OMIM:614153	Spinocerebellar ataxia 36			9
HP:0000496	HP:0000617	Abnormality of ocular smooth pursuit	1	NOP56 CL E G H	10528	15911	OMIM:614153	Spinocerebellar ataxia 36			9
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	NOP56 CL E G H	10528	15911	OMIM:614153	Spinocerebellar ataxia 36			9
HP:0000496	HP:0000570	Abnormal saccadic eye movements	1	NOP56 CL E G H	10528	15911	ORPHA:276198	Spinocerebellar ataxia type 36			9
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	NOTCH1 CL E G H	4851	7881	ORPHA:974	Adams-Oliver syndrome			452
HP:0000496	HP:0000597	Ophthalmoparesis	1	NOTCH2NLC CL E G H	100996717	53924	ORPHA:2289	Neuronal intranuclear inclusion disease
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	NOTCH2NLC CL E G H	100996717	53924	ORPHA:2289	Neuronal intranuclear inclusion disease
HP:0000496	HP:0000597	Ophthalmoparesis	1	NOTCH2NLC CL E G H	100996717	53924	ORPHA:98897	Oculopharyngodistal myopathy	HP:0040281 - Very frequent
HP:0000496	HP:0000597	Ophthalmoparesis	1	NOTCH2NLC CL E G H	100996717	53924	OMIM:619473	OCULOPHARYNGODISTAL MYOPATHY 3; OPDM3
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	NPAP1 CL E G H	23742	1190	OMIM:176270	Prader-Willi syndrome			1
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	NPC1 CL E G H	4864	7897	OMIM:257220	Niemann-pick disease, type C1			258
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	NPC2 CL E G H	10577	14537	OMIM:607625	Niemann-pick disease, type C2			33
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	NPHP1 CL E G H	4867	7905	ORPHA:110	Bardet-Biedl syndrome			85
HP:0000496	HP:0000570	Abnormal saccadic eye movements	1	NPHP1 CL E G H	4867	7905	OMIM:609583	Joubert syndrome 4			85
HP:0000496	HP:0000657	Oculomotor apraxia	1	NPHP1 CL E G H	4867	7905	OMIM:609583	Joubert syndrome 4	.		85
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	NPHP1 CL E G H	4867	7905	OMIM:609583	Joubert syndrome 4			85
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	NPHP1 CL E G H	4867	7905	ORPHA:220497	Joubert syndrome with renal defect			85
HP:0000496	HP:0000657	Oculomotor apraxia	1	NPHP1 CL E G H	4867	7905	ORPHA:220497	Joubert syndrome with renal defect	HP:0040281 - Very frequent		85
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	NPHP1 CL E G H	4867	7905	ORPHA:220497	Joubert syndrome with renal defect			85
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	NPHP4 CL E G H	261734	19104	OMIM:606996	Senior-Loken syndrome 4			220
HP:0000496	HP:0000597	Ophthalmoparesis	1	NR2E3 CL E G H	10002	7974	ORPHA:791	Retinitis pigmentosa			58
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	NR2E3 CL E G H	10002	7974	ORPHA:791	Retinitis pigmentosa			58
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	NR2F1 CL E G H	7025	7975	OMIM:615722	Bosch-Boonstra-Schaaf optic atrophy syndrome			37
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	NR2F1 CL E G H	7025	7975	OMIM:615722	Bosch-Boonstra-Schaaf optic atrophy syndrome			37
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	NR2F1 CL E G H	7025	7975	ORPHA:401777	Optic atrophy-intellectual disability syndrome			37
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	NR2F1 CL E G H	7025	7975	ORPHA:401777	Optic atrophy-intellectual disability syndrome			37
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	NR4A2 CL E G H	4929	7981	ORPHA:98808	Autosomal dominant dopa-responsive dystonia			27
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	NRAS CL E G H	4893	7989	ORPHA:648	Noonan syndrome			102
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	NRAS CL E G H	4893	7989	ORPHA:648	Noonan syndrome			102
HP:0000496	HP:0000597	Ophthalmoparesis	1	NRAS CL E G H	4893	7989	OMIM:163200	Schimmelpenning-Feuerstein-Mims syndrome			102
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	NRCAM CL E G H	4897	7994	OMIM:619833				2
HP:0000496	HP:0000597	Ophthalmoparesis	1	NRL CL E G H	4901	8002	ORPHA:791	Retinitis pigmentosa			30
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	NRL CL E G H	4901	8002	ORPHA:791	Retinitis pigmentosa			30
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	NRXN1 CL E G H	9378	8008	OMIM:614325	Pitt-Hopkins-Like syndrome 2			470
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome			544
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome			544
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	NSD1 CL E G H	64324	14234	OMIM:117550	Sotos syndrome 1			544
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	NSD1 CL E G H	64324	14234	OMIM:117550	Sotos syndrome 1			544
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	NSD2 CL E G H	7468	12766	OMIM:194190	Wolf-Hirschhorn syndrome			118
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	NSD2 CL E G H	7468	12766	ORPHA:280	Wolf-Hirschhorn syndrome			118
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	NSD2 CL E G H	7468	12766	OMIM:194190	Wolf-Hirschhorn syndrome			118
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	NSD2 CL E G H	7468	12766	ORPHA:280	Wolf-Hirschhorn syndrome			118
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	NSDHL CL E G H	50814	13398	ORPHA:251383	CK syndrome			34
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	NSDHL CL E G H	50814	13398	OMIM:300831	Ck syndrome			34
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	NSUN2 CL E G H	54888	25994	ORPHA:235	Dubowitz syndrome			84
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	NSUN2 CL E G H	54888	25994	ORPHA:235	Dubowitz syndrome			84
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	NSUN2 CL E G H	54888	25994	OMIM:611091	Mental retardation, autosomal recessive 5			84
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	NSUN2 CL E G H	54888	25994	OMIM:611091	Mental retardation, autosomal recessive 5			84
HP:0000496	HP:0000597	Ophthalmoparesis	1	NSUN3 CL E G H	63899	26208	OMIM:619012	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 48; COXPD48
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	NSUN3 CL E G H	63899	26208	OMIM:619012	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 48; COXPD48
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	NT5C2 CL E G H	22978	8022	ORPHA:320396	Autosomal recessive spastic paraplegia type 45			15
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	NT5C2 CL E G H	22978	8022	OMIM:613162	Spastic paraplegia 45, autosomal recessive			15
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	NTNG2 CL E G H	84628	14288	OMIM:618718	NEURODEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES, ABSENT SPEECH, AND HYPOTONIA; NEDBASH
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	NTNG2 CL E G H	84628	14288	OMIM:618718	NEURODEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES, ABSENT SPEECH, AND HYPOTONIA; NEDBASH
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	NTRK2 CL E G H	4915	8032	OMIM:617830	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 58; EIEE58			8
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	NTRK2 CL E G H	4915	8032	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040284 - Very rare		8
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	NUBPL CL E G H	80224	20278	ORPHA:2609	Isolated complex I deficiency			89
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	NUBPL CL E G H	80224	20278	ORPHA:2609	Isolated complex I deficiency			89
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	NUBPL CL E G H	80224	20278	OMIM:618242	Mitochondrial complex I deficiency, nuclear type 21			89
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	NUBPL CL E G H	80224	20278	OMIM:618242	Mitochondrial complex I deficiency, nuclear type 21			89
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	NUP133 CL E G H	55746	18016	OMIM:618349	Galloway-Mowat syndrome 8			1
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	NUP62 CL E G H	23636	8066	ORPHA:225154	Familial infantile bilateral striatal necrosis			7
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	NUP62 CL E G H	23636	8066	OMIM:271930	Striatonigral degeneration, infantile			7
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	NUS1 CL E G H	116150	21042	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040284 - Very rare		1
HP:0000496	HP:0000597	Ophthalmoparesis	1	NUTM2B-AS1 CL E G H	101060691	51204	OMIM:618637	OCULOPHARYNGEAL MYOPATHY WITH LEUKOENCEPHALOPATHY 1; OPML1
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	NXN CL E G H	64359	18008	ORPHA:1507	Autosomal recessive Robinow syndrome			2
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	NYX CL E G H	60506	8082	ORPHA:215	Congenital stationary night blindness			42
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	NYX CL E G H	60506	8082	ORPHA:215	Congenital stationary night blindness			42
HP:0000496	HP:0031705	Compensatory head posture	1	NYX CL E G H	60506	8082	ORPHA:215	Congenital stationary night blindness	HP:0040283 - Occasional		42
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	OCA2 CL E G H	4948	8101	OMIM:203200	Albinism, oculocutaneous, type II			121
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	OCA2 CL E G H	4948	8101	OMIM:203200	Albinism, oculocutaneous, type II			121
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	OCA2 CL E G H	4948	8101	ORPHA:98794	Angelman syndrome due to maternal 15q11q13 deletion			121
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	OCA2 CL E G H	4948	8101	ORPHA:79432	Oculocutaneous albinism type 2			121
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	OCA2 CL E G H	4948	8101	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15			121
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	OCA2 CL E G H	4948	8101	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1			121
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	OCA2 CL E G H	4948	8101	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2			121
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	OCLN CL E G H	100506658	8104	OMIM:251290	Band-Like calcification with simplified gyration and polymicrogyria			23
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	OCRL CL E G H	4952	8108	ORPHA:534	Oculocerebrorenal syndrome of Lowe			88
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	OCRL CL E G H	4952	8108	ORPHA:534	Oculocerebrorenal syndrome of Lowe			88
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	OFD1 CL E G H	8481	2567	ORPHA:2754	Orofaciodigital syndrome type 6			201
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	OFD1 CL E G H	8481	2567	ORPHA:2754	Orofaciodigital syndrome type 6			201
HP:0000496	HP:0000597	Ophthalmoparesis	1	OFD1 CL E G H	8481	2567	ORPHA:791	Retinitis pigmentosa			201
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	OFD1 CL E G H	8481	2567	ORPHA:791	Retinitis pigmentosa			201
HP:0000496	HP:0025404	Abnormal visual fixation	1	OFD1 CL E G H	8481	2567	OMIM:300424	Retinitis pigmentosa 23			201
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	OGDHL CL E G H	55753	25590	OMIM:619701	YOON-BELLEN NEURODEVELOPMENTAL SYNDROME; YOBELN			3
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	OGT CL E G H	8473	8127	OMIM:300997	Mental retardation, X-linked 106			4
HP:0000496	HP:0000597	Ophthalmoparesis	1	OPA1 CL E G H	4976	8140	ORPHA:1215	Autosomal dominant optic atrophy plus syndrome			214
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	OPA1 CL E G H	4976	8140	ORPHA:98673	Autosomal dominant optic atrophy, classic form			214
HP:0000496	HP:0000597	Ophthalmoparesis	1	OPA1 CL E G H	4976	8140	ORPHA:98673	Autosomal dominant optic atrophy, classic form			214
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	OPA1 CL E G H	4976	8140	ORPHA:98673	Autosomal dominant optic atrophy, classic form			214
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	OPA1 CL E G H	4976	8140	OMIM:210000	Behr syndrome			214
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	OPA1 CL E G H	4976	8140	OMIM:165500	Optic atrophy 1			214
HP:0000496	HP:0000597	Ophthalmoparesis	1	OPA1 CL E G H	4976	8140	OMIM:165500	Optic atrophy 1			214
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	OPA1 CL E G H	4976	8140	OMIM:165500	Optic atrophy 1			214
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	OPA1 CL E G H	4976	8140	OMIM:125250	Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy			214
HP:0000496	HP:0000597	Ophthalmoparesis	1	OPA1 CL E G H	4976	8140	OMIM:125250	Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy			214
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	OPA1 CL E G H	4976	8140	OMIM:125250	Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy			214
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	OPA3 CL E G H	80207	8142	ORPHA:67047	3-methylglutaconic aciduria type 3			163
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	OPA3 CL E G H	80207	8142	ORPHA:67036	Autosomal dominant optic atrophy and cataract			163
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	OPHN1 CL E G H	4983	8148	OMIM:300486	Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance			55
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	OPHN1 CL E G H	4983	8148	OMIM:300486	Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance			55
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	OPHN1 CL E G H	4983	8148	ORPHA:137831	X-linked intellectual disability-cerebellar hypoplasia syndrome			55
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	OPN1LW CL E G H	5956	9936	OMIM:303700	Blue cone monochromacy			7
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	OPN1MW CL E G H	2652	4206	OMIM:303700	Blue cone monochromacy			5
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	OPN1SW CL E G H	611	1012	ORPHA:88629	Tritanopia			3
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	ORC1 CL E G H	4998	8487	OMIM:224690	Meier-Gorlin syndrome 1			53
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	OSGEP CL E G H	55644	18028	OMIM:617729	Galloway-Mowat syndrome 3
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	OSTM1 CL E G H	28962	21652	OMIM:259720	Osteopetrosis, autosomal recessive 5			73
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	OTUD5 CL E G H	55593	25402	OMIM:301056	MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	OTUD5 CL E G H	55593	25402	OMIM:301056	MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	OTX2 CL E G H	5015	8522	ORPHA:35612	Nanophthalmos			41
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	OTX2 CL E G H	5015	8522	ORPHA:3157	Septo-optic dysplasia spectrum			41
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	OTX2 CL E G H	5015	8522	ORPHA:3157	Septo-optic dysplasia spectrum			41
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	OVOL2 CL E G H	58495	15804	ORPHA:98973	Posterior polymorphous corneal dystrophy			4
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	OXR1 CL E G H	55074	15822	OMIM:213000	Cerebellar hypoplasia			1
HP:0000496	HP:0000597	Ophthalmoparesis	1	P4HA2 CL E G H	8974	8547	ORPHA:397	Giant cell arteritis	HP:0040282 - Frequent		3
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	P4HA2 CL E G H	8974	8547	ORPHA:397	Giant cell arteritis			3
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	P4HTM CL E G H	54681	28858	OMIM:618493	Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	P4HTM CL E G H	54681	28858	OMIM:618493	Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities
HP:0000496	HP:0000597	Ophthalmoparesis	1	PABPN1 CL E G H	8106	8565	ORPHA:270	Oculopharyngeal muscular dystrophy			10
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	PACS1 CL E G H	55690	30032	OMIM:615009	Schuurs-Hoeijmakers syndrome			24
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	PACS1 CL E G H	55690	30032	OMIM:615009	Schuurs-Hoeijmakers syndrome			24
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	PACS2 CL E G H	23241	23794	OMIM:618067	Epileptic encephalopathy, early infantile, 66
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	PACS2 CL E G H	23241	23794	OMIM:618067	Epileptic encephalopathy, early infantile, 66
HP:0000496	HP:0000617	Abnormality of ocular smooth pursuit	1	PAFAH1B1 CL E G H	5048	8574	ORPHA:95232	Lissencephaly due to LIS1 mutation			231
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	PAH CL E G H	5053	8582	ORPHA:2209	Maternal phenylketonuria			641
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	PAK1 CL E G H	5058	8590	OMIM:618158	Intellectual developmental disorder with macrocephaly, seizures, and speech delay
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	PAK2 CL E G H	5062	8591	ORPHA:1571	Knobloch syndrome
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	PAK2 CL E G H	5062	8591	ORPHA:1571	Knobloch syndrome
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	PALB2 CL E G H	79728	26144	ORPHA:84	Fanconi anemia			1349
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	PALB2 CL E G H	79728	26144	ORPHA:84	Fanconi anemia			1349
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	PANK4 CL E G H	55229	19366	OMIM:619593	CATARACT 49; CTRCT49
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	PARS2 CL E G H	25973	30563	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040284 - Very rare		14
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	PAX2 CL E G H	5076	8616	OMIM:120330	Papillorenal syndrome			39
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	PAX2 CL E G H	5076	8616	OMIM:120330	Papillorenal syndrome			39
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	PAX2 CL E G H	5076	8616	ORPHA:1475	Renal coloboma syndrome			39
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	PAX2 CL E G H	5076	8616	ORPHA:1475	Renal coloboma syndrome			39
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	PAX2 CL E G H	5076	8616	ORPHA:97362	Renal hypoplasia, bilateral			39
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	PAX3 CL E G H	5077	8617	ORPHA:894	Waardenburg syndrome type 1			59
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	PAX6 CL E G H	5080	8620	OMIM:106210	Aniridia			194
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	PAX6 CL E G H	5080	8620	OMIM:106210	Aniridia			194
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	PAX6 CL E G H	5080	8620	OMIM:604229	Anterior segment dysgenesis 5, multiple subtypes			194
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	PAX6 CL E G H	5080	8620	OMIM:604229	Anterior segment dysgenesis 5, multiple subtypes			194
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	PAX6 CL E G H	5080	8620	ORPHA:2334	Autosomal dominant keratitis			194
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	PAX6 CL E G H	5080	8620	OMIM:120200	COLOBOMA, OCULAR, AUTOSOMAL DOMINANT			194
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	PAX6 CL E G H	5080	8620	OMIM:136520	Foveal hypoplasia and presenile cataract syndromefoveal hypoplasia, isolated, included			194
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	PAX6 CL E G H	5080	8620	ORPHA:2253	Foveal hypoplasia-presenile cataract syndrome			194
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	PAX6 CL E G H	5080	8620	ORPHA:2253	Foveal hypoplasia-presenile cataract syndrome			194
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	PAX6 CL E G H	5080	8620	ORPHA:250923	Isolated aniridia			194
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	PAX6 CL E G H	5080	8620	ORPHA:137902	Isolated optic nerve hypoplasia/aplasia	HP:0040283 - Occasional		194
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	PAX6 CL E G H	5080	8620	ORPHA:35737	Morning glory disc anomaly			194
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	PAX6 CL E G H	5080	8620	ORPHA:35737	Morning glory disc anomaly			194
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	PAX6 CL E G H	5080	8620	OMIM:165550	OPTIC NERVE HYPOPLASIA, BILATERAL			194
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	PAX6 CL E G H	5080	8620	ORPHA:708	Peters anomaly			194
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	PAX6 CL E G H	5080	8620	ORPHA:708	Peters anomaly			194
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	PAX6 CL E G H	5080	8620	ORPHA:893	WAGR syndrome			194
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	PAX7 CL E G H	5081	8621	OMIM:618578	MYOPATHY, CONGENITAL, PROGRESSIVE, WITH SCOLIOSIS; MYOSCO
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	PBX1 CL E G H	5087	8632	OMIM:617641	Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay			3
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	PBX1 CL E G H	5087	8632	ORPHA:97362	Renal hypoplasia, bilateral			3
HP:0000496	HP:0000597	Ophthalmoparesis	1	PCARE CL E G H	388939	34383	ORPHA:791	Retinitis pigmentosa
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	PCARE CL E G H	388939	34383	ORPHA:791	Retinitis pigmentosa
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	PCDHGC4 CL E G H	56098	8717	OMIM:619880
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	PCYT1A CL E G H	5130	8754	ORPHA:65	Leber congenital amaurosis			11
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	PCYT1A CL E G H	5130	8754	OMIM:608940	Spondylometaphyseal dysplasia with cone-rod dystrophy			11
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	PCYT1A CL E G H	5130	8754	ORPHA:85167	Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome			11
HP:0000496	HP:0000597	Ophthalmoparesis	1	PCYT1A CL E G H	5130	8754	ORPHA:85167	Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome			11
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	PCYT1A CL E G H	5130	8754	ORPHA:85167	Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome			11
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	PCYT2 CL E G H	5833	8756	OMIM:618770	SPASTIC PARAPLEGIA 82, AUTOSOMAL RECESSIVE; SPG82
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	PDCD6IP CL E G H	10015	8766	OMIM:620047
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	PDE4D CL E G H	5144	8783	ORPHA:439822	PDE4D haploinsufficiency syndrome			113
HP:0000496	HP:0000597	Ophthalmoparesis	1	PDE6A CL E G H	5145	8785	ORPHA:791	Retinitis pigmentosa			116
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	PDE6A CL E G H	5145	8785	ORPHA:791	Retinitis pigmentosa			116
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	PDE6B CL E G H	5158	8786	ORPHA:215	Congenital stationary night blindness			126
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	PDE6B CL E G H	5158	8786	ORPHA:215	Congenital stationary night blindness			126
HP:0000496	HP:0031705	Compensatory head posture	1	PDE6B CL E G H	5158	8786	ORPHA:215	Congenital stationary night blindness	HP:0040283 - Occasional		126
HP:0000496	HP:0000597	Ophthalmoparesis	1	PDE6B CL E G H	5158	8786	ORPHA:791	Retinitis pigmentosa			126
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	PDE6B CL E G H	5158	8786	ORPHA:791	Retinitis pigmentosa			126
HP:0000496	HP:0025404	Abnormal visual fixation	1	PDE6C CL E G H	5146	8787	ORPHA:49382	Achromatopsia			80
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	PDE6C CL E G H	5146	8787	ORPHA:49382	Achromatopsia			80
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	PDE6C CL E G H	5146	8787	OMIM:613093	Cone dystrophy 4			80
HP:0000496	HP:0000657	Oculomotor apraxia	1	PDE6D CL E G H	5147	8788	OMIM:615665	Joubert syndrome 22			1
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	PDE6D CL E G H	5147	8788	ORPHA:2754	Orofaciodigital syndrome type 6			1
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	PDE6D CL E G H	5147	8788	ORPHA:2754	Orofaciodigital syndrome type 6			1
HP:0000496	HP:0000597	Ophthalmoparesis	1	PDE6G CL E G H	5148	8789	ORPHA:791	Retinitis pigmentosa			18
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	PDE6G CL E G H	5148	8789	ORPHA:791	Retinitis pigmentosa			18
HP:0000496	HP:0025404	Abnormal visual fixation	1	PDE6H CL E G H	5149	8790	ORPHA:49382	Achromatopsia			14
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	PDE6H CL E G H	5149	8790	ORPHA:49382	Achromatopsia			14
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	PDE6H CL E G H	5149	8790	OMIM:610024	Retinal cone dystrophy 3A			14
HP:0000496	HP:0000597	Ophthalmoparesis	1	PDGFB CL E G H	5155	8800	ORPHA:2495	Meningioma			9
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	PDGFRB CL E G H	5159	8804	OMIM:615007	Basal ganglia calcification, idiopathic, 4			28
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	PDHA1 CL E G H	5160	8806	ORPHA:255241	Leigh syndrome with leukodystrophy			88
HP:0000496	HP:0000597	Ophthalmoparesis	1	PDHA1 CL E G H	5160	8806	ORPHA:255241	Leigh syndrome with leukodystrophy			88
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	PDHA1 CL E G H	5160	8806	ORPHA:255241	Leigh syndrome with leukodystrophy			88
HP:0000496	HP:0000617	Abnormality of ocular smooth pursuit	1	PDHB CL E G H	5162	8808	ORPHA:255138	Pyruvate dehydrogenase E1-beta deficiency			37
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	PDP1 CL E G H	54704	9279	OMIM:608782	Pyruvate dehydrogenase phosphatase deficiency			52
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	PDPN CL E G H	10630	29602	ORPHA:1606	1p36 deletion syndrome
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	PDPN CL E G H	10630	29602	ORPHA:1606	1p36 deletion syndrome
HP:0000496	HP:0000570	Abnormal saccadic eye movements	1	PDYN CL E G H	5173	8820	OMIM:610245	Spinocerebellar ataxia 23			52
HP:0000496	HP:0000570	Abnormal saccadic eye movements	1	PDYN CL E G H	5173	8820	ORPHA:101108	Spinocerebellar ataxia type 23			52
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	PDZD7 CL E G H	79955	26257	ORPHA:231178	Usher syndrome type 2			40
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	PET100 CL E G H	100131801	40038	ORPHA:255241	Leigh syndrome with leukodystrophy			6
HP:0000496	HP:0000597	Ophthalmoparesis	1	PET100 CL E G H	100131801	40038	ORPHA:255241	Leigh syndrome with leukodystrophy			6
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	PET100 CL E G H	100131801	40038	ORPHA:255241	Leigh syndrome with leukodystrophy			6
HP:0000496	HP:0025404	Abnormal visual fixation	1	PET100 CL E G H	100131801	40038	OMIM:619055	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 12; MC4DN12			6
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	PET100 CL E G H	100131801	40038	OMIM:619055	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 12; MC4DN12			6
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	PEX1 CL E G H	5189	8850	ORPHA:772	Infantile Refsum disease			169
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	PEX1 CL E G H	5189	8850	ORPHA:44	Neonatal adrenoleukodystrophy			169
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	PEX1 CL E G H	5189	8850	ORPHA:44	Neonatal adrenoleukodystrophy			169
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	PEX1 CL E G H	5189	8850	OMIM:214100	Peroxisome biogenesis disorder 1A (Zellweger)			169
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	PEX1 CL E G H	5189	8850	ORPHA:912	Zellweger syndrome			169
HP:0000496	HP:0000617	Abnormality of ocular smooth pursuit	1	PEX10 CL E G H	5192	8851	ORPHA:247815	Autosomal recessive ataxia due to PEX10 deficiency			75
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	PEX10 CL E G H	5192	8851	ORPHA:772	Infantile Refsum disease			75
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	PEX10 CL E G H	5192	8851	ORPHA:44	Neonatal adrenoleukodystrophy			75
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	PEX10 CL E G H	5192	8851	ORPHA:44	Neonatal adrenoleukodystrophy			75
HP:0000496	HP:0000570	Abnormal saccadic eye movements	1	PEX10 CL E G H	5192	8851	OMIM:614871	Peroxisome biogenesis disorder 6B			75
HP:0000496	HP:0000617	Abnormality of ocular smooth pursuit	1	PEX10 CL E G H	5192	8851	OMIM:614871	Peroxisome biogenesis disorder 6B			75
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	PEX10 CL E G H	5192	8851	OMIM:614871	Peroxisome biogenesis disorder 6B			75
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	PEX10 CL E G H	5192	8851	ORPHA:912	Zellweger syndrome			75
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	PEX11B CL E G H	8799	8853	ORPHA:772	Infantile Refsum disease			4
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	PEX11B CL E G H	8799	8853	ORPHA:44	Neonatal adrenoleukodystrophy			4
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	PEX11B CL E G H	8799	8853	ORPHA:44	Neonatal adrenoleukodystrophy			4
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	PEX11B CL E G H	8799	8853	OMIM:614920	Peroxisome biogenesis disorder 14B			4
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	PEX11B CL E G H	8799	8853	ORPHA:912	Zellweger syndrome			4
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	PEX12 CL E G H	5193	8854	ORPHA:772	Infantile Refsum disease			65
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	PEX12 CL E G H	5193	8854	ORPHA:44	Neonatal adrenoleukodystrophy			65
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	PEX12 CL E G H	5193	8854	ORPHA:44	Neonatal adrenoleukodystrophy			65
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	PEX12 CL E G H	5193	8854	ORPHA:912	Zellweger syndrome			65
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	PEX13 CL E G H	5194	8855	ORPHA:772	Infantile Refsum disease			66
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	PEX13 CL E G H	5194	8855	ORPHA:44	Neonatal adrenoleukodystrophy			66
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	PEX13 CL E G H	5194	8855	ORPHA:44	Neonatal adrenoleukodystrophy			66
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	PEX13 CL E G H	5194	8855	ORPHA:912	Zellweger syndrome			66
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	PEX14 CL E G H	5195	8856	ORPHA:772	Infantile Refsum disease			46
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	PEX14 CL E G H	5195	8856	ORPHA:44	Neonatal adrenoleukodystrophy			46
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	PEX14 CL E G H	5195	8856	ORPHA:44	Neonatal adrenoleukodystrophy			46
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	PEX14 CL E G H	5195	8856	ORPHA:912	Zellweger syndrome			46
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	PEX16 CL E G H	9409	8857	ORPHA:772	Infantile Refsum disease			59
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	PEX16 CL E G H	9409	8857	ORPHA:44	Neonatal adrenoleukodystrophy			59
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	PEX16 CL E G H	9409	8857	ORPHA:44	Neonatal adrenoleukodystrophy			59
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	PEX16 CL E G H	9409	8857	OMIM:614877	Peroxisome biogenesis disorder 8B			59
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	PEX16 CL E G H	9409	8857	ORPHA:912	Zellweger syndrome			59
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	PEX19 CL E G H	5824	9713	ORPHA:772	Infantile Refsum disease			62
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	PEX19 CL E G H	5824	9713	ORPHA:44	Neonatal adrenoleukodystrophy			62
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	PEX19 CL E G H	5824	9713	ORPHA:44	Neonatal adrenoleukodystrophy			62
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	PEX19 CL E G H	5824	9713	ORPHA:912	Zellweger syndrome			62
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	PEX2 CL E G H	5828	9717	ORPHA:772	Infantile Refsum disease			82
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	PEX2 CL E G H	5828	9717	ORPHA:44	Neonatal adrenoleukodystrophy			82
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	PEX2 CL E G H	5828	9717	ORPHA:44	Neonatal adrenoleukodystrophy			82
HP:0000496	HP:0000570	Abnormal saccadic eye movements	1	PEX2 CL E G H	5828	9717	OMIM:614867	Peroxisome biogenesis disorder 5B			82
HP:0000496	HP:0000657	Oculomotor apraxia	1	PEX2 CL E G H	5828	9717	OMIM:614867	Peroxisome biogenesis disorder 5B	.		82
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	PEX2 CL E G H	5828	9717	OMIM:614867	Peroxisome biogenesis disorder 5B			82
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	PEX2 CL E G H	5828	9717	ORPHA:912	Zellweger syndrome			82
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	PEX26 CL E G H	55670	22965	ORPHA:772	Infantile Refsum disease			106
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	PEX26 CL E G H	55670	22965	ORPHA:44	Neonatal adrenoleukodystrophy			106
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	PEX26 CL E G H	55670	22965	ORPHA:44	Neonatal adrenoleukodystrophy			106
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	PEX26 CL E G H	55670	22965	OMIM:614872	Peroxisome biogenesis disorder 7A (zellweger)			106
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	PEX26 CL E G H	55670	22965	ORPHA:912	Zellweger syndrome			106
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	PEX3 CL E G H	8504	8858	ORPHA:772	Infantile Refsum disease			47
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	PEX3 CL E G H	8504	8858	ORPHA:44	Neonatal adrenoleukodystrophy			47
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	PEX3 CL E G H	8504	8858	ORPHA:44	Neonatal adrenoleukodystrophy			47
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	PEX3 CL E G H	8504	8858	OMIM:617370	Peroxisome biogenesis disorder 10B			47
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	PEX3 CL E G H	8504	8858	ORPHA:912	Zellweger syndrome			47
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	PEX5 CL E G H	5830	9719	ORPHA:772	Infantile Refsum disease			99
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	PEX5 CL E G H	5830	9719	ORPHA:44	Neonatal adrenoleukodystrophy			99
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	PEX5 CL E G H	5830	9719	ORPHA:44	Neonatal adrenoleukodystrophy			99
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	PEX5 CL E G H	5830	9719	OMIM:202370	Peroxisome biogenesis disorder 2B			99
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	PEX5 CL E G H	5830	9719	OMIM:616716	RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5; RCDP5			99
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	PEX5 CL E G H	5830	9719	ORPHA:912	Zellweger syndrome			99
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	PEX6 CL E G H	5190	8859	ORPHA:95433	Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome			98
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	PEX6 CL E G H	5190	8859	ORPHA:772	Infantile Refsum disease			98
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	PEX6 CL E G H	5190	8859	ORPHA:44	Neonatal adrenoleukodystrophy			98
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	PEX6 CL E G H	5190	8859	ORPHA:44	Neonatal adrenoleukodystrophy			98
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	PEX6 CL E G H	5190	8859	OMIM:614863	Peroxisome biogenesis disorder 4B			98
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	PEX6 CL E G H	5190	8859	ORPHA:912	Zellweger syndrome			98
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	PEX7 CL E G H	5191	8860	OMIM:266500	Refsum disease			72
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	PEX7 CL E G H	5191	8860	ORPHA:773	Refsum disease			72
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	PGAP1 CL E G H	80055	25712	OMIM:615802	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42; MRT42			20
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	PGAP2 CL E G H	27315	17893	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			8
HP:0000496	HP:0000657	Oculomotor apraxia	1	PGAP2 CL E G H	27315	17893	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional		8
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	PGAP3 CL E G H	93210	23719	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			20
HP:0000496	HP:0000657	Oculomotor apraxia	1	PGAP3 CL E G H	93210	23719	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional		20
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	PHF21A CL E G H	51317	24156	ORPHA:52022	Potocki-Shaffer syndrome			2
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	PHF21A CL E G H	51317	24156	ORPHA:52022	Potocki-Shaffer syndrome			2
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	PHF6 CL E G H	84295	18145	OMIM:301900	Borjeson-Forssman-Lehmann syndrome			29
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	PHF6 CL E G H	84295	18145	ORPHA:127	Borjeson-Forssman-Lehmann syndrome			29
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	PHGDH CL E G H	26227	8923	ORPHA:79351	3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form			37
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	PHGDH CL E G H	26227	8923	OMIM:601815	Phosphoglycerate dehydrogenase deficiency			37
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	PHIP CL E G H	55023	15673	OMIM:617991	Developmental delay, intellectual disability, obesity, and dysmorphic features			11
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	PHIP CL E G H	55023	15673	OMIM:617991	Developmental delay, intellectual disability, obesity, and dysmorphic features			11
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	PHIP CL E G H	55023	15673	ORPHA:589905	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome			11
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	PHOX2A CL E G H	401	691	OMIM:602078	Fibrosis of extraocular muscles, congenital, 2			6
HP:0000496	HP:0000597	Ophthalmoparesis	1	PHOX2A CL E G H	401	691	OMIM:602078	Fibrosis of extraocular muscles, congenital, 2			6
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	PHOX2B CL E G H	8929	9143	ORPHA:99803	Haddad syndrome			86
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	PHYH CL E G H	5264	8940	ORPHA:773	Refsum disease			45
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	PHYH CL E G H	5264	8940	OMIM:266500	Refsum disease			45
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	PI4KA CL E G H	5297	8983	ORPHA:98889	Bilateral perisylvian polymicrogyria			11
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	PI4KA CL E G H	5297	8983	OMIM:619708	GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 2; GIDID2			11
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	PI4KA CL E G H	5297	8983	OMIM:619708	GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 2; GIDID2			11
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	PI4KA CL E G H	5297	8983	OMIM:619621	SPASTIC PARAPLEGIA 84, AUTOSOMAL RECESSIVE; SPG84			11
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	PIBF1 CL E G H	10464	23352	ORPHA:475	Joubert syndrome			4
HP:0000496	HP:0000657	Oculomotor apraxia	1	PIBF1 CL E G H	10464	23352	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent		4
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	PIBF1 CL E G H	10464	23352	ORPHA:475	Joubert syndrome			4
HP:0000496	HP:0000657	Oculomotor apraxia	1	PIBF1 CL E G H	10464	23352	OMIM:617767	Joubert syndrome 33	.		4
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	PIDD1 CL E G H	55367	16491	OMIM:619827	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 75, WITH NEUROPSYCHIATRIC FEATURES AND VARIANT LISSENCEPHALY; MRT75
HP:0000496	HP:0000597	Ophthalmoparesis	1	PIEZO2 CL E G H	63895	26270	OMIM:114300	Arthrogryposis, distal, type 3			77
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	PIEZO2 CL E G H	63895	26270	OMIM:108145	Arthrogryposis, distal, type 5			77
HP:0000496	HP:0000597	Ophthalmoparesis	1	PIEZO2 CL E G H	63895	26270	OMIM:108145	Arthrogryposis, distal, type 5			77
HP:0000496	HP:0000597	Ophthalmoparesis	1	PIEZO2 CL E G H	63895	26270	ORPHA:1154	Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome			77
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	PIEZO2 CL E G H	63895	26270	OMIM:248700	Marden-Walker syndrome			77
HP:0000496	HP:0025404	Abnormal visual fixation	1	PIGB CL E G H	9488	8959	OMIM:618580	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 80; DEE80
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	PIGG CL E G H	54872	25985	ORPHA:280	Wolf-Hirschhorn syndrome			7
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	PIGG CL E G H	54872	25985	ORPHA:280	Wolf-Hirschhorn syndrome			7
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	PIGL CL E G H	9487	8966	ORPHA:3474	CHIME syndrome			36
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	PIGL CL E G H	9487	8966	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			36
HP:0000496	HP:0000657	Oculomotor apraxia	1	PIGL CL E G H	9487	8966	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional		36
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome			37
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome			37
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	PIGN CL E G H	23556	8967	OMIM:614080	Multiple congenital anomalies-hypotonia-seizures syndrome 1			37
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	PIGO CL E G H	84720	23215	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			84
HP:0000496	HP:0000657	Oculomotor apraxia	1	PIGO CL E G H	84720	23215	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional		84
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	PIGP CL E G H	51227	3046	ORPHA:1934	Early infantile epileptic encephalopathy			2
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	PIGQ CL E G H	9091	14135	ORPHA:1934	Early infantile epileptic encephalopathy			3
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	PIGQ CL E G H	9091	14135	OMIM:618548	MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 4; MCAHS4			3
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	PIGS CL E G H	94005	14937	OMIM:618143	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18; GPIBD18
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	PIGT CL E G H	51604	14938	ORPHA:369837	Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome			12
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	PIGT CL E G H	51604	14938	ORPHA:369837	Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome			12
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	PIGT CL E G H	51604	14938	OMIM:615398	Multiple congenital anomalies-hypotonia-seizures syndrome 3			12
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	PIGT CL E G H	51604	14938	OMIM:615398	Multiple congenital anomalies-hypotonia-seizures syndrome 3			12
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	PIGU CL E G H	128869	15791	OMIM:618590	NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES, SEIZURES, AND SCOLIOSIS; NEDBSS
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	PIGU CL E G H	128869	15791	OMIM:618590	NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES, SEIZURES, AND SCOLIOSIS; NEDBSS
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	PIGV CL E G H	55650	26031	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			57
HP:0000496	HP:0000657	Oculomotor apraxia	1	PIGV CL E G H	55650	26031	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional		57
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	PIGW CL E G H	284098	23213	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			6
HP:0000496	HP:0000657	Oculomotor apraxia	1	PIGW CL E G H	284098	23213	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional		6
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	PIGY CL E G H	84992	28213	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			2
HP:0000496	HP:0000657	Oculomotor apraxia	1	PIGY CL E G H	84992	28213	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional		2
HP:0000496	HP:0000597	Ophthalmoparesis	1	PIK3CA CL E G H	5290	8975	ORPHA:99802	Hemimegalencephaly			162
HP:0000496	HP:0000597	Ophthalmoparesis	1	PIK3CA CL E G H	5290	8975	ORPHA:2495	Meningioma			162
HP:0000496	HP:0000570	Abnormal saccadic eye movements	1	PIK3R5 CL E G H	23533	30035	OMIM:615217	Ataxia-Oculomotor apraxia 3			11
HP:0000496	HP:0000657	Oculomotor apraxia	1	PIK3R5 CL E G H	23533	30035	OMIM:615217	Ataxia-Oculomotor apraxia 3	.		11
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	PIK3R5 CL E G H	23533	30035	OMIM:615217	Ataxia-Oculomotor apraxia 3			11
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	PIK3R5 CL E G H	23533	30035	ORPHA:64753	Spinocerebellar ataxia with axonal neuropathy type 2			11
HP:0000496	HP:0000617	Abnormality of ocular smooth pursuit	1	PIK3R5 CL E G H	23533	30035	ORPHA:64753	Spinocerebellar ataxia with axonal neuropathy type 2			11
HP:0000496	HP:0000657	Oculomotor apraxia	1	PIK3R5 CL E G H	23533	30035	ORPHA:64753	Spinocerebellar ataxia with axonal neuropathy type 2	HP:0040282 - Frequent		11
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	PIK3R5 CL E G H	23533	30035	ORPHA:64753	Spinocerebellar ataxia with axonal neuropathy type 2			11
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	PITX2 CL E G H	5308	9005	OMIM:180500	Axenfeld-rieger syndrome, type 1			51
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	PITX2 CL E G H	5308	9005	ORPHA:708	Peters anomaly			51
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	PITX2 CL E G H	5308	9005	ORPHA:708	Peters anomaly			51
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	PLA2G6 CL E G H	8398	9039	ORPHA:199351	Adult-onset dystonia-parkinsonism			133
HP:0000496	HP:0000570	Abnormal saccadic eye movements	1	PLA2G6 CL E G H	8398	9039	ORPHA:199351	Adult-onset dystonia-parkinsonism			133
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	PLA2G6 CL E G H	8398	9039	ORPHA:35069	Infantile neuroaxonal dystrophy			133
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	PLA2G6 CL E G H	8398	9039	ORPHA:35069	Infantile neuroaxonal dystrophy			133
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	PLA2G6 CL E G H	8398	9039	OMIM:256600	Neurodegeneration with brain iron accumulation 2A			133
HP:0000496	HP:0000617	Abnormality of ocular smooth pursuit	1	PLA2G6 CL E G H	8398	9039	OMIM:610217	Neurodegeneration with brain iron accumulation 2B			133
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	PLA2G6 CL E G H	8398	9039	OMIM:610217	Neurodegeneration with brain iron accumulation 2B			133
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	PLA2G6 CL E G H	8398	9039	OMIM:612953	Parkinson disease 14, autosomal recessive			133
HP:0000496	HP:0000570	Abnormal saccadic eye movements	1	PLA2G6 CL E G H	8398	9039	OMIM:612953	Parkinson disease 14, autosomal recessive			133
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	PLA2G6 CL E G H	8398	9039	OMIM:612953	Parkinson disease 14, autosomal recessive			133
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	PLAA CL E G H	9373	9043	OMIM:617527	Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies			3
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	PLAA CL E G H	9373	9043	ORPHA:521426	PLAA-associated neurodevelopmental disorder			3
HP:0000496	HP:0000570	Abnormal saccadic eye movements	1	PLD3 CL E G H	23646	17158	OMIM:617770	Spinocerebellar ataxia 46			2
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	PLD3 CL E G H	23646	17158	OMIM:617770	Spinocerebellar ataxia 46			2
HP:0000496	HP:0000597	Ophthalmoparesis	1	PLEC CL E G H	5339	9069	ORPHA:257	Epidermolysis bullosa simplex with muscular dystrophy	HP:0040281 - Very frequent		759
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	PLEKHG2 CL E G H	64857	29515	OMIM:616763	Leukodystrophy and acquired microcephaly with or without dystonia			3
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	PLK4 CL E G H	10733	11397	ORPHA:2518	Autosomal recessive chorioretinopathy-microcephaly syndrome			11
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	PLK4 CL E G H	10733	11397	ORPHA:2518	Autosomal recessive chorioretinopathy-microcephaly syndrome			11
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	PLOD1 CL E G H	5351	9081	ORPHA:1900	Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency			105
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	PLP1 CL E G H	5354	9086	OMIM:312080	Pelizaeus-Merzbacher disease			60
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	PLP1 CL E G H	5354	9086	OMIM:312080	Pelizaeus-Merzbacher disease			60
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	PLP1 CL E G H	5354	9086	ORPHA:280229	Pelizaeus-Merzbacher disease in female carriers			60
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	PLP1 CL E G H	5354	9086	ORPHA:280219	Pelizaeus-Merzbacher disease, classic form			60
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	PLP1 CL E G H	5354	9086	ORPHA:280210	Pelizaeus-Merzbacher disease, connatal form			60
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	PLP1 CL E G H	5354	9086	ORPHA:280224	Pelizaeus-Merzbacher disease, transitional form			60
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	PLP1 CL E G H	5354	9086	OMIM:312920	Spastic paraplegia 2, X-linked			60
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	PLP1 CL E G H	5354	9086	ORPHA:99015	Spastic paraplegia type 2			60
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	PLPBP CL E G H	11212	9457	OMIM:617290	Epilepsy, early-onset, vitamin b6-dependent			6
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	PLXNA1 CL E G H	5361	9099	OMIM:619955
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	PLXNA1 CL E G H	5361	9099	OMIM:619955
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	PLXND1 CL E G H	23129	9107	ORPHA:570	Moebius syndrome
HP:0000496	HP:0000597	Ophthalmoparesis	1	PLXND1 CL E G H	23129	9107	ORPHA:570	Moebius syndrome
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	PMM2 CL E G H	5373	9115	OMIM:212065	Congenital disorder of glycosylation, type Ia			150
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	PMM2 CL E G H	5373	9115	OMIM:212065	Congenital disorder of glycosylation, type Ia			150
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	PMM2 CL E G H	5373	9115	ORPHA:79318	PMM2-CDG			150
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	PMP22 CL E G H	5376	9118	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas			79
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	PMP22 CL E G H	5376	9118	ORPHA:3115	Roussy-Lévy syndrome			79
HP:0000496	HP:0000597	Ophthalmoparesis	1	PMPCA CL E G H	23203	18667	ORPHA:1170	Autosomal recessive cerebelloparenchymal disorder type 3			7
HP:0000496	HP:0000657	Oculomotor apraxia	1	PMPCA CL E G H	23203	18667	ORPHA:1170	Autosomal recessive cerebelloparenchymal disorder type 3	HP:0040282 - Frequent		7
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	PMPCA CL E G H	23203	18667	ORPHA:1170	Autosomal recessive cerebelloparenchymal disorder type 3			7
HP:0000496	HP:0000617	Abnormality of ocular smooth pursuit	1	PMPCA CL E G H	23203	18667	OMIM:213200	Spinocerebellar ataxia, autosomal recessive 2			7
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	PMPCA CL E G H	23203	18667	OMIM:213200	Spinocerebellar ataxia, autosomal recessive 2			7
HP:0000496	HP:0000657	Oculomotor apraxia	1	PNKP CL E G H	11284	9154	OMIM:616267	Ataxia-Oculomotor apraxia 4	.		244
HP:0000496	HP:0000570	Abnormal saccadic eye movements	1	PNKP CL E G H	11284	9154	ORPHA:459033	Ataxia-oculomotor apraxia type 4	HP:0040283 - Occasional		244
HP:0000496	HP:0000657	Oculomotor apraxia	1	PNKP CL E G H	11284	9154	ORPHA:459033	Ataxia-oculomotor apraxia type 4	HP:0040282 - Frequent		244
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	PNKP CL E G H	11284	9154	ORPHA:1934	Early infantile epileptic encephalopathy			244
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	PNPLA6 CL E G H	10908	16268	ORPHA:1173	Cerebellar ataxia-hypogonadism syndrome			103
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	PNPLA6 CL E G H	10908	16268	ORPHA:2377	Laurence-Moon syndrome			103
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	PNPLA6 CL E G H	10908	16268	OMIM:245800	Laurence-Moon syndrome			103
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	PNPLA6 CL E G H	10908	16268	ORPHA:2377	Laurence-Moon syndrome			103
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	PNPLA6 CL E G H	10908	16268	OMIM:275400	Oliver-Mcfarlane syndrome			103
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	PNPO CL E G H	55163	30260	OMIM:610090	Pyridoxamine 5-prime-phosphate oxidase deficiency			92
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	PNPT1 CL E G H	87178	23166	ORPHA:319514	Combined oxidative phosphorylation defect type 13			60
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	PNPT1 CL E G H	87178	23166	OMIM:614932	Combined oxidative phosphorylation deficiency 13			60
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	PNPT1 CL E G H	87178	23166	OMIM:608703	Spinocerebellar ataxia 25			60
HP:0000496	HP:0000657	Oculomotor apraxia	1	PNPT1 CL E G H	87178	23166	OMIM:608703	Spinocerebellar ataxia 25			60
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	PNPT1 CL E G H	87178	23166	OMIM:608703	Spinocerebellar ataxia 25			60
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	PNPT1 CL E G H	87178	23166	ORPHA:101111	Spinocerebellar ataxia type 25			60
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	PNPT1 CL E G H	87178	23166	ORPHA:101111	Spinocerebellar ataxia type 25			60
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	POC1B CL E G H	282809	30836	OMIM:615973	Cone-Rod dystrophy 20			3
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	POGZ CL E G H	23126	18801	OMIM:616364	White-Sutton syndrome			35
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	POGZ CL E G H	23126	18801	ORPHA:468678	White-Sutton syndrome			35
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	POGZ CL E G H	23126	18801	OMIM:616364	White-Sutton syndrome			35
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	POLA1 CL E G H	5422	9173	OMIM:301030	Van esch-o'driscoll syndrome			2
HP:0000496	HP:0000597	Ophthalmoparesis	1	POLG CL E G H	5428	9179	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040282 - Frequent		464
HP:0000496	HP:0000597	Ophthalmoparesis	1	POLG CL E G H	5428	9179	ORPHA:254886	Autosomal recessive progressive external ophthalmoplegia			464
HP:0000496	HP:0000597	Ophthalmoparesis	1	POLG CL E G H	5428	9179	OMIM:603041	Mitochondrial DNA depletion syndrome 1 (mngie type)			464
HP:0000496	HP:0000597	Ophthalmoparesis	1	POLG CL E G H	5428	9179	OMIM:613662	Mitochondrial DNA depletion syndrome 4B (mngie type)			464
HP:0000496	HP:0000597	Ophthalmoparesis	1	POLG CL E G H	5428	9179	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy	HP:0040282 - Frequent		464
HP:0000496	HP:0000597	Ophthalmoparesis	1	POLG CL E G H	5428	9179	OMIM:157640	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1			464
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	POLG CL E G H	5428	9179	OMIM:258450	Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive			464
HP:0000496	HP:0000597	Ophthalmoparesis	1	POLG CL E G H	5428	9179	OMIM:258450	Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive			464
HP:0000496	HP:0000597	Ophthalmoparesis	1	POLG CL E G H	5428	9179	ORPHA:94125	Recessive mitochondrial ataxia syndrome			464
HP:0000496	HP:0000597	Ophthalmoparesis	1	POLG CL E G H	5428	9179	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis			464
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	POLG CL E G H	5428	9179	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis			464
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	POLG CL E G H	5428	9179	ORPHA:70595	Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome			464
HP:0000496	HP:0000597	Ophthalmoparesis	1	POLG CL E G H	5428	9179	ORPHA:70595	Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome	HP:0040282 - Frequent		464
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	POLG CL E G H	5428	9179	ORPHA:70595	Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome			464
HP:0000496	HP:0000597	Ophthalmoparesis	1	POLG2 CL E G H	11232	9180	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040282 - Frequent		45
HP:0000496	HP:0000597	Ophthalmoparesis	1	POLG2 CL E G H	11232	9180	OMIM:610131	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4			45
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	POLR1B CL E G H	84172	20454	ORPHA:861	Treacher-Collins syndrome
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	POLR1C CL E G H	9533	20194	ORPHA:861	Treacher-Collins syndrome			38
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	POLR1D CL E G H	51082	20422	ORPHA:861	Treacher-Collins syndrome			31
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	POLR2A CL E G H	5430	9187	OMIM:618603	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND VARIABLE INTELLECTUAL AND BEHAVIORAL ABNORMALITIES; NEDHIB
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	POLR3A CL E G H	11128	30074	OMIM:607694	Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism			138
HP:0000496	HP:0000617	Abnormality of ocular smooth pursuit	1	POLR3A CL E G H	11128	30074	OMIM:607694	Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism			138
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	POLR3A CL E G H	11128	30074	OMIM:607694	Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism			138
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	POLR3A CL E G H	11128	30074	ORPHA:447896	Tremor-ataxia-central hypomyelination syndrome			138
HP:0000496	HP:0000617	Abnormality of ocular smooth pursuit	1	POLR3A CL E G H	11128	30074	ORPHA:447896	Tremor-ataxia-central hypomyelination syndrome	HP:0040282 - Frequent		138
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	POLR3A CL E G H	11128	30074	ORPHA:447896	Tremor-ataxia-central hypomyelination syndrome			138
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome			138
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome			138
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	POLR3B CL E G H	55703	30348	OMIM:607694	Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism			67
HP:0000496	HP:0000617	Abnormality of ocular smooth pursuit	1	POLR3B CL E G H	55703	30348	OMIM:607694	Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism			67
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	POLR3B CL E G H	55703	30348	OMIM:607694	Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism			67
HP:0000496	HP:0000617	Abnormality of ocular smooth pursuit	1	POLR3B CL E G H	55703	30348	OMIM:614381	Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism			67
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	POLR3B CL E G H	55703	30348	OMIM:614381	Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism			67
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	POLR3K CL E G H	51728	14121	OMIM:619310	LEUKODYSTROPHY, HYPOMYELINATING, 21; HLD21
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	POLRMT CL E G H	5442	9200	OMIM:619743	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55; COXPD55			1
HP:0000496	HP:0000597	Ophthalmoparesis	1	POLRMT CL E G H	5442	9200	OMIM:619743	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55; COXPD55			1
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	POMGNT1 CL E G H	55624	19139	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement			180
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	POMGNT1 CL E G H	55624	19139	ORPHA:588	Muscle-eye-brain disease			180
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	POMGNT1 CL E G H	55624	19139	OMIM:253280	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3			180
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	POMGNT1 CL E G H	55624	19139	OMIM:253280	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3			180
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	POMGNT1 CL E G H	55624	19139	OMIM:613151	Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3			180
HP:0000496	HP:0000597	Ophthalmoparesis	1	POMGNT1 CL E G H	55624	19139	ORPHA:791	Retinitis pigmentosa			180
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	POMGNT1 CL E G H	55624	19139	ORPHA:791	Retinitis pigmentosa			180
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	POMK CL E G H	84197	26267	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement			18
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	POMT1 CL E G H	10585	9202	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement			213
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	POMT1 CL E G H	10585	9202	ORPHA:370968	Congenital muscular dystrophy with intellectual disability			213
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	POMT1 CL E G H	10585	9202	ORPHA:588	Muscle-eye-brain disease			213
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	POMT2 CL E G H	29954	19743	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement			221
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	POMT2 CL E G H	29954	19743	ORPHA:370968	Congenital muscular dystrophy with intellectual disability			221
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	POMT2 CL E G H	29954	19743	ORPHA:588	Muscle-eye-brain disease			221
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	POMT2 CL E G H	29954	19743	OMIM:613156	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2			221
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	PORCN CL E G H	64840	17652	ORPHA:2092	Focal dermal hypoplasia			20
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	PORCN CL E G H	64840	17652	OMIM:305600	Focal dermal hypoplasia			20
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	PORCN CL E G H	64840	17652	OMIM:305600	Focal dermal hypoplasia			20
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	POU3F4 CL E G H	5456	9217	ORPHA:1435	Xq21 microdeletion syndrome			40
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	POU3F4 CL E G H	5456	9217	ORPHA:1435	Xq21 microdeletion syndrome			40
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	POU4F1 CL E G H	5457	9218	OMIM:619352	ATAXIA, INTENTION TREMOR, AND HYPOTONIA SYNDROME, CHILDHOOD-ONSET; ATITHS
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	POU4F1 CL E G H	5457	9218	OMIM:619352	ATAXIA, INTENTION TREMOR, AND HYPOTONIA SYNDROME, CHILDHOOD-ONSET; ATITHS
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	POU4F1 CL E G H	5457	9218	ORPHA:314647	Non-progressive cerebellar ataxia with intellectual disability
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	PPFIBP1 CL E G H	8496	9249	OMIM:620024
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	PPM1D CL E G H	8493	9277	OMIM:617450	Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold			22
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	PPP1CB CL E G H	5500	9282	OMIM:617506	Noonan syndrome-like disorder with loose anagen hair 2			9
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	PPP1R12A CL E G H	4659	7618	OMIM:618820	GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME; GUBS
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	PPP1R21 CL E G H	129285	30595	OMIM:619383	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES; NEDHFBA
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	PPP1R21 CL E G H	129285	30595	OMIM:619383	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES; NEDHFBA
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	PPP2R5D CL E G H	5528	9312	ORPHA:457279	Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome			10
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	PPP2R5D CL E G H	5528	9312	ORPHA:457279	Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome			10
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	PPP2R5D CL E G H	5528	9312	OMIM:616355	Mental retardation, autosomal dominant 35			10
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	PPP3CA CL E G H	5530	9314	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040284 - Very rare		2
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	PQBP1 CL E G H	10084	9330	OMIM:309500	Renpenning syndrome			28
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	PQBP1 CL E G H	10084	9330	ORPHA:93945	X-linked intellectual disability, Porteous type			28
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	PQBP1 CL E G H	10084	9330	ORPHA:93950	X-linked intellectual disability, Sutherland-Haan type			28
HP:0000496	HP:0000597	Ophthalmoparesis	1	PRCD CL E G H	768206	32528	ORPHA:791	Retinitis pigmentosa			39
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	PRCD CL E G H	768206	32528	ORPHA:791	Retinitis pigmentosa			39
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	PRDM13 CL E G H	59336	13998	OMIM:619909				2
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	PRDM13 CL E G H	59336	13998	OMIM:619761	CEREBELLAR DYSFUNCTION, IMPAIRED INTELLECTUAL DEVELOPMENT, AND HYPOGONADOTROPIC HYPOGONADISM; CDIDHH			2
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	PRDM13 CL E G H	59336	13998	OMIM:619761	CEREBELLAR DYSFUNCTION, IMPAIRED INTELLECTUAL DEVELOPMENT, AND HYPOGONADOTROPIC HYPOGONADISM; CDIDHH			2
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	PRDM16 CL E G H	63976	14000	ORPHA:1606	1p36 deletion syndrome			148
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	PRDM16 CL E G H	63976	14000	ORPHA:1606	1p36 deletion syndrome			148
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	PRDX1 CL E G H	5052	9352	OMIM:277400	Methylmalonic aciduria and homocystinuria, Cblc type
HP:0000496	HP:0000570	Abnormal saccadic eye movements	1	PRDX3 CL E G H	10935	9354	OMIM:619862
HP:0000496	HP:0000617	Abnormality of ocular smooth pursuit	1	PRDX3 CL E G H	10935	9354	OMIM:619862
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	PRDX3 CL E G H	10935	9354	OMIM:619862
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	PRKACA CL E G H	5566	9380	ORPHA:289	Ellis Van Creveld syndrome			2
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	PRKACB CL E G H	5567	9381	ORPHA:289	Ellis Van Creveld syndrome			2
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	PRKAR1A CL E G H	5573	9388	OMIM:101800	Acrodysostosis 1, with or without hormone resistance			134
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	PRKAR1B CL E G H	5575	9390	OMIM:619680	MARBACH-SCHAAF NEURODEVELOPMENTAL SYNDROME; MASNS			2
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	PRKCG CL E G H	5582	9402	OMIM:605361	Spinocerebellar ataxia 14			83
HP:0000496	HP:0000617	Abnormality of ocular smooth pursuit	1	PRKCG CL E G H	5582	9402	ORPHA:98763	Spinocerebellar ataxia type 14			83
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	PRKCG CL E G H	5582	9402	ORPHA:98763	Spinocerebellar ataxia type 14			83
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	PRKCZ CL E G H	5590	9412	ORPHA:1606	1p36 deletion syndrome
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	PRKCZ CL E G H	5590	9412	ORPHA:1606	1p36 deletion syndrome
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	PRKD1 CL E G H	5587	9407	OMIM:617364	Congenital heart defects and ectodermal dysplasia			7
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	PRMT7 CL E G H	54496	25557	OMIM:617157	Short stature, brachydactyly, intellectual developmental disability, and seizures			6
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	PRMT7 CL E G H	54496	25557	ORPHA:464288	Short stature-brachydactyly-obesity-global developmental delay syndrome			6
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	PRNP CL E G H	5621	9449	OMIM:123400	Creutzfeldt-Jakob disease			69
HP:0000496	HP:0000617	Abnormality of ocular smooth pursuit	1	PRNP CL E G H	5621	9449	OMIM:137440	Gerstmann-Straussler disease			69
HP:0000496	HP:0000570	Abnormal saccadic eye movements	1	PRNP CL E G H	5621	9449	ORPHA:157941	Huntington disease-like 1	HP:0040283 - Occasional		69
HP:0000496	HP:0000617	Abnormality of ocular smooth pursuit	1	PRNP CL E G H	5621	9449	ORPHA:157941	Huntington disease-like 1	HP:0040283 - Occasional		69
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	PRNP CL E G H	5621	9449	ORPHA:157941	Huntington disease-like 1			69
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	PRNP CL E G H	5621	9449	ORPHA:282166	Inherited Creutzfeldt-Jakob disease			69
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	PRNP CL E G H	5621	9449	ORPHA:282166	Inherited Creutzfeldt-Jakob disease			69
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	PROK2 CL E G H	60675	18455	ORPHA:478	Kallmann syndrome			9
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	PROKR2 CL E G H	128674	15836	ORPHA:478	Kallmann syndrome			34
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	PROKR2 CL E G H	128674	15836	ORPHA:3157	Septo-optic dysplasia spectrum			34
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	PROKR2 CL E G H	128674	15836	ORPHA:3157	Septo-optic dysplasia spectrum			34
HP:0000496	HP:0000597	Ophthalmoparesis	1	PROM1 CL E G H	8842	9454	ORPHA:791	Retinitis pigmentosa			110
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	PROM1 CL E G H	8842	9454	ORPHA:791	Retinitis pigmentosa			110
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	PROM1 CL E G H	8842	9454	OMIM:612095	RETINITIS PIGMENTOSA 41; RP41			110
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	PROM1 CL E G H	8842	9454	ORPHA:827	Stargardt disease			110
HP:0000496	HP:0000597	Ophthalmoparesis	1	PRPF3 CL E G H	9129	17348	ORPHA:791	Retinitis pigmentosa			28
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	PRPF3 CL E G H	9129	17348	ORPHA:791	Retinitis pigmentosa			28
HP:0000496	HP:0000597	Ophthalmoparesis	1	PRPF31 CL E G H	26121	15446	ORPHA:791	Retinitis pigmentosa			70
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	PRPF31 CL E G H	26121	15446	ORPHA:791	Retinitis pigmentosa			70
HP:0000496	HP:0000597	Ophthalmoparesis	1	PRPF4 CL E G H	9128	17349	ORPHA:791	Retinitis pigmentosa			2
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	PRPF4 CL E G H	9128	17349	ORPHA:791	Retinitis pigmentosa			2
HP:0000496	HP:0000597	Ophthalmoparesis	1	PRPF6 CL E G H	24148	15860	ORPHA:791	Retinitis pigmentosa			51
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	PRPF6 CL E G H	24148	15860	ORPHA:791	Retinitis pigmentosa			51
HP:0000496	HP:0000597	Ophthalmoparesis	1	PRPF8 CL E G H	10594	17340	ORPHA:791	Retinitis pigmentosa			94
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	PRPF8 CL E G H	10594	17340	ORPHA:791	Retinitis pigmentosa			94
HP:0000496	HP:0000597	Ophthalmoparesis	1	PRPH2 CL E G H	5961	9942	ORPHA:791	Retinitis pigmentosa			159
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	PRPH2 CL E G H	5961	9942	ORPHA:791	Retinitis pigmentosa			159
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	PRPH2 CL E G H	5961	9942	ORPHA:827	Stargardt disease			159
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	PRPS1 CL E G H	5631	9462	OMIM:301835	Arts syndrome			49
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	PRPS1 CL E G H	5631	9462	ORPHA:1187	Lethal ataxia with deafness and optic atrophy			49
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	PRPS1 CL E G H	5631	9462	OMIM:300661	Phosphoribosylpyrophosphate synthetase superactivity			49
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	PRPS1 CL E G H	5631	9462	ORPHA:423479	X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome			49
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	PRR12 CL E G H	57479	29217	OMIM:619539	NEUROOCULAR SYNDROME; NOC			1
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	PRR12 CL E G H	57479	29217	OMIM:619539	NEUROOCULAR SYNDROME; NOC			1
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	PRRT2 CL E G H	112476	30500	ORPHA:569	Familial or sporadic hemiplegic migraine			94
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	PRSS12 CL E G H	8492	9477	OMIM:249500	Mental retardation, autosomal recessive 1			73
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	PRSS12 CL E G H	8492	9477	OMIM:249500	Mental retardation, autosomal recessive 1			73
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	PRSS56 CL E G H	646960	39433	ORPHA:35612	Nanophthalmos			11
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	PRX CL E G H	57716	13797	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas			170
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	PSAP CL E G H	5660	9498	OMIM:610539	Gaucher disease, atypical			81
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	PSAP CL E G H	5660	9498	OMIM:610539	Gaucher disease, atypical			81
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	PSAT1 CL E G H	29968	19129	ORPHA:284417	Phosphoserine aminotransferase deficiency, infantile/juvenile form			27
HP:0000496	HP:0000657	Oculomotor apraxia	1	PSEN1 CL E G H	5663	9508	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease	HP:0040283 - Occasional		241
HP:0000496	HP:0000657	Oculomotor apraxia	1	PSEN2 CL E G H	5664	9509	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease	HP:0040283 - Occasional		59
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	PSMC3 CL E G H	5702	9549	OMIM:619354	DEAFNESS, CATARACT, IMPAIRED INTELLECTUAL DEVELOPMENT, AND POLYNEUROPATHY; DCIDP
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	PSMD12 CL E G H	5718	9557	OMIM:617516	Stankiewicz-Isidor syndrome			4
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	PSMD12 CL E G H	5718	9557	OMIM:617516	Stankiewicz-Isidor syndrome			4
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	PTCD3 CL E G H	55037	24717	OMIM:619057	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 51; COXPD51
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	PTCH1 CL E G H	5727	9585	OMIM:109400	Basal cell nevus syndrome			665
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	PTCH1 CL E G H	5727	9585	ORPHA:377	Gorlin syndrome			665
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	PTCH1 CL E G H	5727	9585	ORPHA:280200	Microform holoprosencephaly			665
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	PTCH1 CL E G H	5727	9585	ORPHA:77301	Monosomy 9q22.3			665
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	PTCH2 CL E G H	8643	9586	OMIM:109400	Basal cell nevus syndrome			40
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	PTCH2 CL E G H	8643	9586	ORPHA:377	Gorlin syndrome			40
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	PTEN CL E G H	5728	9588	ORPHA:101070	Bilateral frontoparietal polymicrogyria			948
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	PTEN CL E G H	5728	9588	ORPHA:744	Proteus syndrome			948
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	PTPN11 CL E G H	5781	9644	OMIM:151100	Leopard syndrome 1			291
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	PTPN11 CL E G H	5781	9644	ORPHA:648	Noonan syndrome			291
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	PTPN11 CL E G H	5781	9644	ORPHA:648	Noonan syndrome			291
HP:0000496	HP:0000597	Ophthalmoparesis	1	PTPN22 CL E G H	26191	9652	ORPHA:397	Giant cell arteritis	HP:0040282 - Frequent		3
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	PTPN22 CL E G H	26191	9652	ORPHA:397	Giant cell arteritis			3
HP:0000496	HP:0025404	Abnormal visual fixation	1	PTPN23 CL E G H	25930	14406	OMIM:618890	NEURODEVELOPMENTAL DISORDER AND STRUCTURAL BRAIN ANOMALIES WITH OR WITHOUT SEIZURES AND SPASTICITY; NEDBASS			3
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	PTRH2 CL E G H	51651	24265	ORPHA:456312	Infantile multisystem neurologic-endocrine-pancreatic disease			6
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	PTRH2 CL E G H	51651	24265	OMIM:616263	Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset			6
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	PUF60 CL E G H	22827	17042	ORPHA:508488	8q24.3 microdeletion syndrome			19
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	PUF60 CL E G H	22827	17042	ORPHA:508498	Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome			19
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	PURA CL E G H	5813	9701	OMIM:616158	Mental retardation, autosomal dominant 31			53
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	PURA CL E G H	5813	9701	OMIM:616158	Mental retardation, autosomal dominant 31			53
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	PUS3 CL E G H	83480	25461	OMIM:617051	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 55; MRT55			1
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	PUS3 CL E G H	83480	25461	ORPHA:488627	Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome			1
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	PUS3 CL E G H	83480	25461	ORPHA:488627	Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome			1
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	PUS7 CL E G H	54517	26033	OMIM:618342	Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	PWAR1 CL E G H	145624	30089	OMIM:176270	Prader-Willi syndrome
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	PWRN1 CL E G H	791114	33235	OMIM:176270	Prader-Willi syndrome
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	PYCR2 CL E G H	29920	30262	OMIM:616420	Leukodystrophy, hypomyelinating, 10			11
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	PYCR2 CL E G H	29920	30262	ORPHA:481152	PYCR2-related microcephaly-progressive leukoencephalopathy			11
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	PYCR2 CL E G H	29920	30262	ORPHA:481152	PYCR2-related microcephaly-progressive leukoencephalopathy			11
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	PYROXD1 CL E G H	79912	26162	OMIM:617258	MYOPATHY, MYOFIBRILLAR, 8; MFM8			5
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	RAB11B CL E G H	9230	9761	OMIM:617807	Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	RAB11B CL E G H	9230	9761	OMIM:617807	Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	RAB18 CL E G H	22931	14244	OMIM:614222	Warburg micro syndrome 3			85
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	RAB39B CL E G H	116442	16499	ORPHA:2379	Early-onset parkinsonism-intellectual disability syndrome			34
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	RAB3GAP2 CL E G H	25782	17168	OMIM:212720	Martsolf syndrome 1			135
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	RAD21 CL E G H	5885	9811	ORPHA:199	Cornelia de Lange syndrome			25
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	RAD21 CL E G H	5885	9811	ORPHA:199	Cornelia de Lange syndrome			25
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	RAD51 CL E G H	5888	9817	ORPHA:84	Fanconi anemia			9
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	RAD51 CL E G H	5888	9817	ORPHA:84	Fanconi anemia			9
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	RAD51C CL E G H	5889	9820	ORPHA:84	Fanconi anemia			391
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	RAD51C CL E G H	5889	9820	ORPHA:84	Fanconi anemia			391
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	RAF1 CL E G H	5894	9829	ORPHA:648	Noonan syndrome			212
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	RAF1 CL E G H	5894	9829	ORPHA:648	Noonan syndrome			212
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	RAI1 CL E G H	10743	9834	ORPHA:477817	PMP22-RAI1 contiguous gene duplication syndrome			150
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	RAI1 CL E G H	10743	9834	ORPHA:819	Smith-Magenis syndrome			150
HP:0000496	HP:0025404	Abnormal visual fixation	1	RANBP2 CL E G H	5903	9848	ORPHA:88619	Familial acute necrotizing encephalopathy	HP:0040282 - Frequent		57
HP:0000496	HP:0000597	Ophthalmoparesis	1	RAPSN CL E G H	5913	9863	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent		73
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	RARS1 CL E G H	5917	9870	OMIM:616140	Leukodystrophy, hypomyelinating, 9
HP:0000496	HP:0000617	Abnormality of ocular smooth pursuit	1	RARS1 CL E G H	5917	9870	ORPHA:438114	RARS-related autosomal recessive hypomyelinating leukodystrophy
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	RARS1 CL E G H	5917	9870	ORPHA:438114	RARS-related autosomal recessive hypomyelinating leukodystrophy
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	RASA2 CL E G H	5922	9872	ORPHA:648	Noonan syndrome			3
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	RASA2 CL E G H	5922	9872	ORPHA:648	Noonan syndrome			3
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	RAX CL E G H	30062	18662	ORPHA:35612	Nanophthalmos			43
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	RBL2 CL E G H	5934	9894	OMIM:619690	BRUNET-WAGNER NEURODEVELOPMENTAL SYNDROME; BRUWAG
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	RBL2 CL E G H	5934	9894	OMIM:619690	BRUNET-WAGNER NEURODEVELOPMENTAL SYNDROME; BRUWAG
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	RBM8A CL E G H	9939	9905	OMIM:274000	Thrombocytopenia-absent radius syndrome			10
HP:0000496	HP:0000597	Ophthalmoparesis	1	RBP3 CL E G H	5949	9921	ORPHA:791	Retinitis pigmentosa			108
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	RBP3 CL E G H	5949	9921	ORPHA:791	Retinitis pigmentosa			108
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	RBPJ CL E G H	3516	5724	ORPHA:974	Adams-Oliver syndrome			3
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	RD3 CL E G H	343035	19689	ORPHA:65	Leber congenital amaurosis			95
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	RD3 CL E G H	343035	19689	OMIM:610612	Leber congenital amaurosis 12			95
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	RDH12 CL E G H	145226	19977	ORPHA:65	Leber congenital amaurosis			45
HP:0000496	HP:0000597	Ophthalmoparesis	1	RDH12 CL E G H	145226	19977	ORPHA:791	Retinitis pigmentosa			45
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	RDH12 CL E G H	145226	19977	ORPHA:791	Retinitis pigmentosa			45
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	RECQL4 CL E G H	9401	9949	OMIM:218600	Baller-Gerold syndrome			445
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	RECQL4 CL E G H	9401	9949	ORPHA:1225	Baller-Gerold syndrome			445
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	RECQL4 CL E G H	9401	9949	OMIM:268400	ROTHMUND-THOMSON SYNDROME; RTS			445
HP:0000496	HP:0000597	Ophthalmoparesis	1	REEP6 CL E G H	92840	30078	ORPHA:791	Retinitis pigmentosa			5
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	REEP6 CL E G H	92840	30078	ORPHA:791	Retinitis pigmentosa			5
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	REPS1 CL E G H	85021	15578	OMIM:617916	Neurodegeneration with brain iron accumulation 7
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	RERE CL E G H	473	9965	ORPHA:1606	1p36 deletion syndrome			16
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	RERE CL E G H	473	9965	ORPHA:1606	1p36 deletion syndrome			16
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	RERE CL E G H	473	9965	OMIM:616975	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart			16
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	RERE CL E G H	473	9965	ORPHA:494344	RERE-related neurodevelopmental syndrome			16
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	RET CL E G H	5979	9967	ORPHA:99803	Haddad syndrome			572
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	REV3L CL E G H	5980	9968	ORPHA:570	Moebius syndrome			3
HP:0000496	HP:0000597	Ophthalmoparesis	1	REV3L CL E G H	5980	9968	ORPHA:570	Moebius syndrome			3
HP:0000496	HP:0000617	Abnormality of ocular smooth pursuit	1	RFC1 CL E G H	5981	9969	OMIM:614575	Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	RFC1 CL E G H	5981	9969	OMIM:614575	Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	RFWD3 CL E G H	55159	25539	ORPHA:84	Fanconi anemia
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	RFWD3 CL E G H	55159	25539	ORPHA:84	Fanconi anemia
HP:0000496	HP:0000597	Ophthalmoparesis	1	RGR CL E G H	5995	9990	ORPHA:791	Retinitis pigmentosa			28
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	RGR CL E G H	5995	9990	ORPHA:791	Retinitis pigmentosa			28
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	RHO CL E G H	6010	10012	ORPHA:215	Congenital stationary night blindness			107
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	RHO CL E G H	6010	10012	ORPHA:215	Congenital stationary night blindness			107
HP:0000496	HP:0031705	Compensatory head posture	1	RHO CL E G H	6010	10012	ORPHA:215	Congenital stationary night blindness	HP:0040283 - Occasional		107
HP:0000496	HP:0000597	Ophthalmoparesis	1	RHO CL E G H	6010	10012	ORPHA:791	Retinitis pigmentosa			107
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	RHO CL E G H	6010	10012	ORPHA:791	Retinitis pigmentosa			107
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	RHOA CL E G H	387	667	OMIM:618727	ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES; EDFAOB			8
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	RHOA CL E G H	387	667	OMIM:618727	ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES; EDFAOB			8
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	RIC1 CL E G H	57589	17686	OMIM:618761	CATIFA SYNDROME; CATIFA
HP:0000496	HP:0000597	Ophthalmoparesis	1	RILPL1 CL E G H	353116	26814	OMIM:619790	OCULOPHARYNGODISTAL MYOPATHY 4; OPDM4
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	RIMS2 CL E G H	9699	17283	OMIM:618970	CONE-ROD SYNAPTIC DISORDER SYNDROME, CONGENITAL NONPROGRESSIVE; CRSDS			2
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	RIT1 CL E G H	6016	10023	ORPHA:648	Noonan syndrome			39
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	RIT1 CL E G H	6016	10023	ORPHA:648	Noonan syndrome			39
HP:0000496	HP:0000597	Ophthalmoparesis	1	RLBP1 CL E G H	6017	10024	ORPHA:791	Retinitis pigmentosa			47
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	RLBP1 CL E G H	6017	10024	ORPHA:791	Retinitis pigmentosa			47
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	RMRP CL E G H	6023	10031	ORPHA:175	Cartilage-hair hypoplasia			37
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	RNASEH1 CL E G H	246243	18466	ORPHA:329336	Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy			3
HP:0000496	HP:0000597	Ophthalmoparesis	1	RNASEH1 CL E G H	246243	18466	ORPHA:329336	Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy			3
HP:0000496	HP:0000597	Ophthalmoparesis	1	RNASEH1 CL E G H	246243	18466	OMIM:616479	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2			3
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	RNASEH2A CL E G H	10535	18518	ORPHA:51	Aicardi-Goutières syndrome			33
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	RNASEH2B CL E G H	79621	25671	ORPHA:51	Aicardi-Goutières syndrome			34
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	RNASEH2C CL E G H	84153	24116	ORPHA:51	Aicardi-Goutières syndrome			60
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	RNASEH2C CL E G H	84153	24116	OMIM:610329	Aicardi-Goutieres syndrome 3			60
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	RNASET2 CL E G H	8635	21686	OMIM:612951	Leukoencephalopathy, cystic, without megalencephaly			37
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	RNF113A CL E G H	7737	12974	ORPHA:33364	Trichothiodystrophy			3
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	RNF113A CL E G H	7737	12974	ORPHA:33364	Trichothiodystrophy			3
HP:0000496	HP:0025404	Abnormal visual fixation	1	RNF13 CL E G H	11342	10057	ORPHA:544503	RNF13-related severe early-onset epileptic encephalopathy
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	RNF135 CL E G H	84282	21158	ORPHA:137634	Overgrowth-macrocephaly-facial dysmorphism syndrome			11
HP:0000496	HP:0000617	Abnormality of ocular smooth pursuit	1	RNF170 CL E G H	81790	25358	OMIM:619686	SPASTIC PARAPLEGIA 85, AUTOSOMAL RECESSIVE; SPG85			3
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	RNF2 CL E G H	6045	10061	OMIM:619460	LUO-SCHOCH-YAMAMOTO SYNDROME; LUSYAM
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	RNF216 CL E G H	54476	21698	ORPHA:1173	Cerebellar ataxia-hypogonadism syndrome			10
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	RNU12 CL E G H	267010	19380	ORPHA:512260	Congenital cerebellar ataxia due to RNU12 mutation
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	RNU4ATAC CL E G H	100151683	34016	OMIM:226960	EPIPHYSEAL DYSPLASIA, MICROCEPHALY, AND NYSTAGMUS			15
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	RNU4ATAC CL E G H	100151683	34016	ORPHA:1824	Lowry-Wood syndrome			15
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	RNU7-1 CL E G H	100147744	34033	ORPHA:51	Aicardi-Goutières syndrome
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	RNU7-1 CL E G H	100147744	34033	OMIM:619487	AICARDI-GOUTIERES SYNDROME 9; AGS9
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	ROBO3 CL E G H	64221	13433	OMIM:607313	Gaze palsy, familial horizontal, with progressive scoliosis, 1			90
HP:0000496	HP:0000597	Ophthalmoparesis	1	ROBO3 CL E G H	64221	13433	OMIM:607313	Gaze palsy, familial horizontal, with progressive scoliosis, 1			90
HP:0000496	HP:0011347	Abnormality of ocular abduction	1	ROBO3 CL E G H	64221	13433	OMIM:607313	Gaze palsy, familial horizontal, with progressive scoliosis, 1			90
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	ROBO3 CL E G H	64221	13433	OMIM:607313	Gaze palsy, familial horizontal, with progressive scoliosis, 1			90
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	ROBO3 CL E G H	64221	13433	ORPHA:2744	Horizontal gaze palsy with progressive scoliosis			90
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	ROBO3 CL E G H	64221	13433	ORPHA:2744	Horizontal gaze palsy with progressive scoliosis			90
HP:0000496	HP:0000597	Ophthalmoparesis	1	ROM1 CL E G H	6094	10254	ORPHA:791	Retinitis pigmentosa			38
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	ROM1 CL E G H	6094	10254	ORPHA:791	Retinitis pigmentosa			38
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	ROR2 CL E G H	4920	10257	ORPHA:1507	Autosomal recessive Robinow syndrome			120
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	RORA CL E G H	6095	10258	OMIM:618060	INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT EPILEPSY OR CEREBELLAR ATAXIA; IDDECA			1
HP:0000496	HP:0000657	Oculomotor apraxia	1	RORA CL E G H	6095	10258	OMIM:618060	INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT EPILEPSY OR CEREBELLAR ATAXIA; IDDECA			1
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	RORA CL E G H	6095	10258	OMIM:618060	INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT EPILEPSY OR CEREBELLAR ATAXIA; IDDECA			1
HP:0000496	HP:0000597	Ophthalmoparesis	1	RP1 CL E G H	6101	10263	ORPHA:791	Retinitis pigmentosa			111
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	RP1 CL E G H	6101	10263	ORPHA:791	Retinitis pigmentosa			111
HP:0000496	HP:0000597	Ophthalmoparesis	1	RP1L1 CL E G H	94137	15946	ORPHA:791	Retinitis pigmentosa			284
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	RP1L1 CL E G H	94137	15946	ORPHA:791	Retinitis pigmentosa			284
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	RP1L1 CL E G H	94137	15946	OMIM:618826	RETINITIS PIGMENTOSA 88; RP88			284
HP:0000496	HP:0000597	Ophthalmoparesis	1	RP2 CL E G H	6102	10274	ORPHA:791	Retinitis pigmentosa			45
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	RP2 CL E G H	6102	10274	ORPHA:791	Retinitis pigmentosa			45
HP:0000496	HP:0000597	Ophthalmoparesis	1	RP9 CL E G H	6100	10288	ORPHA:791	Retinitis pigmentosa			14
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	RP9 CL E G H	6100	10288	ORPHA:791	Retinitis pigmentosa			14
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	RPE65 CL E G H	6121	10294	ORPHA:65	Leber congenital amaurosis			129
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	RPE65 CL E G H	6121	10294	OMIM:204100	Leber congenital amaurosis, type II			129
HP:0000496	HP:0000597	Ophthalmoparesis	1	RPE65 CL E G H	6121	10294	ORPHA:791	Retinitis pigmentosa			129
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	RPE65 CL E G H	6121	10294	ORPHA:791	Retinitis pigmentosa			129
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	RPE65 CL E G H	6121	10294	OMIM:613794	Retinitis pigmentosa 20			129
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	RPE65 CL E G H	6121	10294	ORPHA:364055	Severe early-childhood-onset retinal dystrophy			129
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	RPE65 CL E G H	6121	10294	ORPHA:364055	Severe early-childhood-onset retinal dystrophy			129
HP:0000496	HP:0025404	Abnormal visual fixation	1	RPGR CL E G H	6103	10295	ORPHA:49382	Achromatopsia			200
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	RPGR CL E G H	6103	10295	ORPHA:49382	Achromatopsia			200
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	RPGR CL E G H	6103	10295	OMIM:304020	Cone-rod dystrophy, X-linked, 1			200
HP:0000496	HP:0000597	Ophthalmoparesis	1	RPGR CL E G H	6103	10295	ORPHA:791	Retinitis pigmentosa			200
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	RPGR CL E G H	6103	10295	ORPHA:791	Retinitis pigmentosa			200
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	RPGRIP1 CL E G H	57096	13436	ORPHA:65	Leber congenital amaurosis			109
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	RPGRIP1 CL E G H	57096	13436	OMIM:613826	Leber congenital amaurosis 6			109
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	RPGRIP1L CL E G H	23322	29168	OMIM:619113	COACH SYNDROME 3; COACH3			167
HP:0000496	HP:0000657	Oculomotor apraxia	1	RPGRIP1L CL E G H	23322	29168	OMIM:619113	COACH SYNDROME 3; COACH3			167
HP:0000496	HP:0000657	Oculomotor apraxia	1	RPGRIP1L CL E G H	23322	29168	OMIM:611560	Joubert syndrome 7	.		167
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	RPGRIP1L CL E G H	23322	29168	OMIM:611560	Joubert syndrome 7			167
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	RPGRIP1L CL E G H	23322	29168	ORPHA:1454	Joubert syndrome with hepatic defect			167
HP:0000496	HP:0000657	Oculomotor apraxia	1	RPGRIP1L CL E G H	23322	29168	ORPHA:1454	Joubert syndrome with hepatic defect	HP:0040281 - Very frequent		167
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	RPGRIP1L CL E G H	23322	29168	ORPHA:1454	Joubert syndrome with hepatic defect			167
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	RPGRIP1L CL E G H	23322	29168	ORPHA:220497	Joubert syndrome with renal defect			167
HP:0000496	HP:0000657	Oculomotor apraxia	1	RPGRIP1L CL E G H	23322	29168	ORPHA:220497	Joubert syndrome with renal defect	HP:0040281 - Very frequent		167
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	RPGRIP1L CL E G H	23322	29168	ORPHA:220497	Joubert syndrome with renal defect			167
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	RPIA CL E G H	22934	10297	OMIM:608611	Ribose 5-phosphate isomerase deficiency			18
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	RPL10 CL E G H	6134	10298	ORPHA:459070	X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome			10
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	RPL11 CL E G H	6135	10301	ORPHA:124	Blackfan-Diamond anemia			22
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	RPL15 CL E G H	6138	10306	ORPHA:124	Blackfan-Diamond anemia			3
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	RPL18 CL E G H	6141	10310	ORPHA:124	Blackfan-Diamond anemia
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	RPL26 CL E G H	6154	10327	ORPHA:124	Blackfan-Diamond anemia			3
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	RPL27 CL E G H	6155	10328	ORPHA:124	Blackfan-Diamond anemia			1
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	RPL31 CL E G H	6160	10334	ORPHA:124	Blackfan-Diamond anemia
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	RPL35 CL E G H	11224	10344	ORPHA:124	Blackfan-Diamond anemia
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	RPL35A CL E G H	6165	10345	ORPHA:124	Blackfan-Diamond anemia			11
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	RPL5 CL E G H	6125	10360	ORPHA:124	Blackfan-Diamond anemia			40
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	RPS10 CL E G H	6204	10383	ORPHA:124	Blackfan-Diamond anemia			26
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	RPS15A CL E G H	6210	10389	ORPHA:124	Blackfan-Diamond anemia
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	RPS17 CL E G H	6218	10397	ORPHA:124	Blackfan-Diamond anemia			5
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	RPS19 CL E G H	6223	10402	ORPHA:124	Blackfan-Diamond anemia			42
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	RPS19 CL E G H	6223	10402	OMIM:105650	Diamond-Blackfan anemia 1			42
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	RPS20 CL E G H	6224	10405	ORPHA:124	Blackfan-Diamond anemia			1
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	RPS24 CL E G H	6229	10411	ORPHA:124	Blackfan-Diamond anemia			22
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	RPS26 CL E G H	6231	10414	ORPHA:124	Blackfan-Diamond anemia			20
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	RPS27 CL E G H	6232	10416	ORPHA:124	Blackfan-Diamond anemia			1
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	RPS28 CL E G H	6234	10418	ORPHA:124	Blackfan-Diamond anemia			1
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	RPS29 CL E G H	6235	10419	ORPHA:124	Blackfan-Diamond anemia			3
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	RPS6KA3 CL E G H	6197	10432	ORPHA:192	Coffin-Lowry syndrome			65
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	RPS7 CL E G H	6201	10440	ORPHA:124	Blackfan-Diamond anemia			20
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	RRAS CL E G H	6237	10447	ORPHA:648	Noonan syndrome
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	RRAS CL E G H	6237	10447	ORPHA:648	Noonan syndrome
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	RRAS2 CL E G H	22800	17271	ORPHA:648	Noonan syndrome			1
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	RRAS2 CL E G H	22800	17271	ORPHA:648	Noonan syndrome			1
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	RRAS2 CL E G H	22800	17271	OMIM:618624	NOONAN SYNDROME 12; NS12			1
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	RRM2B CL E G H	50484	17296	ORPHA:329336	Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy			125
HP:0000496	HP:0000597	Ophthalmoparesis	1	RRM2B CL E G H	50484	17296	ORPHA:329336	Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy			125
HP:0000496	HP:0000597	Ophthalmoparesis	1	RRM2B CL E G H	50484	17296	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040282 - Frequent		125
HP:0000496	HP:0000597	Ophthalmoparesis	1	RRM2B CL E G H	50484	17296	ORPHA:480	Kearns-Sayre syndrome			125
HP:0000496	HP:0000597	Ophthalmoparesis	1	RRM2B CL E G H	50484	17296	OMIM:612075	Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy)			125
HP:0000496	HP:0000597	Ophthalmoparesis	1	RRM2B CL E G H	50484	17296	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy	HP:0040282 - Frequent		125
HP:0000496	HP:0000597	Ophthalmoparesis	1	RRM2B CL E G H	50484	17296	OMIM:613077	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5			125
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	RSPRY1 CL E G H	89970	29420	ORPHA:457395	Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome			2
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	RSPRY1 CL E G H	89970	29420	OMIM:616723	Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type			2
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	RTL1 CL E G H	388015	14665	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	RTN4IP1 CL E G H	84816	18647	OMIM:616732	OPTIC ATROPHY 10 WITH OR WITHOUT ATAXIA, MENTAL RETARDATION, AND SEIZURES; OPA10			2
HP:0000496	HP:0000617	Abnormality of ocular smooth pursuit	1	RUBCN CL E G H	9711	28991	ORPHA:404499	Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency			9
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	RUBCN CL E G H	9711	28991	ORPHA:404499	Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency			9
HP:0000496	HP:0000617	Abnormality of ocular smooth pursuit	1	RUBCN CL E G H	9711	28991	OMIM:615705	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 15; SCAR15			9
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	RUBCN CL E G H	9711	28991	OMIM:615705	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 15; SCAR15			9
HP:0000496	HP:0000597	Ophthalmoparesis	1	RYR1 CL E G H	6261	10483	ORPHA:169189	Autosomal dominant centronuclear myopathy			1200
HP:0000496	HP:0000597	Ophthalmoparesis	1	RYR1 CL E G H	6261	10483	ORPHA:169186	Autosomal recessive centronuclear myopathy	HP:0040283 - Occasional		1200
HP:0000496	HP:0000597	Ophthalmoparesis	1	RYR1 CL E G H	6261	10483	ORPHA:597	Central core disease			1200
HP:0000496	HP:0000597	Ophthalmoparesis	1	RYR1 CL E G H	6261	10483	ORPHA:98905	Congenital multicore myopathy with external ophthalmoplegia			1200
HP:0000496	HP:0000597	Ophthalmoparesis	1	RYR1 CL E G H	6261	10483	ORPHA:424107	Congenital myopathy with myasthenic-like onset			1200
HP:0000496	HP:0000597	Ophthalmoparesis	1	RYR1 CL E G H	6261	10483	OMIM:255320	Minicore myopathy with external ophthalmoplegia			1200
HP:0000496	HP:0000597	Ophthalmoparesis	1	RYR1 CL E G H	6261	10483	OMIM:255310	Myopathy, congenital, with fiber-type disproportion			1200
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	SACS CL E G H	26278	10519	ORPHA:98	Autosomal recessive spastic ataxia of Charlevoix-Saguenay			309
HP:0000496	HP:0000617	Abnormality of ocular smooth pursuit	1	SACS CL E G H	26278	10519	OMIM:270550	Spastic ataxia, Charlevoix-Saguenay type			309
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	SACS CL E G H	26278	10519	OMIM:270550	Spastic ataxia, Charlevoix-Saguenay type			309
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	SAG CL E G H	6295	10521	ORPHA:215	Congenital stationary night blindness			32
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	SAG CL E G H	6295	10521	ORPHA:215	Congenital stationary night blindness			32
HP:0000496	HP:0031705	Compensatory head posture	1	SAG CL E G H	6295	10521	ORPHA:215	Congenital stationary night blindness	HP:0040283 - Occasional		32
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	SAG CL E G H	6295	10521	ORPHA:75382	Oguchi disease			32
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	SAG CL E G H	6295	10521	ORPHA:75382	Oguchi disease			32
HP:0000496	HP:0000597	Ophthalmoparesis	1	SAG CL E G H	6295	10521	ORPHA:791	Retinitis pigmentosa			32
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	SAG CL E G H	6295	10521	ORPHA:791	Retinitis pigmentosa			32
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	SALL1 CL E G H	6299	10524	ORPHA:857	Townes-Brocks syndrome			124
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	SALL1 CL E G H	6299	10524	OMIM:107480	Townes-Brocks syndrome 1			124
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	SALL2 CL E G H	6297	10526	OMIM:216820	COLOBOMA, OCULAR, AUTOSOMAL RECESSIVE			1
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	SALL2 CL E G H	6297	10526	OMIM:216820	COLOBOMA, OCULAR, AUTOSOMAL RECESSIVE			1
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	SALL4 CL E G H	57167	15924	ORPHA:959	Acro-renal-ocular syndrome			86
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	SALL4 CL E G H	57167	15924	ORPHA:959	Acro-renal-ocular syndrome			86
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	SALL4 CL E G H	57167	15924	ORPHA:233	Duane retraction syndrome			86
HP:0000496	HP:0000597	Ophthalmoparesis	1	SALL4 CL E G H	57167	15924	ORPHA:233	Duane retraction syndrome			86
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	SALL4 CL E G H	57167	15924	ORPHA:233	Duane retraction syndrome			86
HP:0000496	HP:0000542	Impaired ocular adduction	1	SALL4 CL E G H	57167	15924	OMIM:607323	Duane-Radial ray syndrome	.		86
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	SALL4 CL E G H	57167	15924	OMIM:607323	Duane-Radial ray syndrome			86
HP:0000496	HP:0011347	Abnormality of ocular abduction	1	SALL4 CL E G H	57167	15924	OMIM:607323	Duane-Radial ray syndrome			86
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	SALL4 CL E G H	57167	15924	OMIM:147750	Ivic syndrome			86
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	SALL4 CL E G H	57167	15924	ORPHA:2307	IVIC syndrome			86
HP:0000496	HP:0000597	Ophthalmoparesis	1	SALL4 CL E G H	57167	15924	OMIM:147750	Ivic syndrome			86
HP:0000496	HP:0033980	Paroxysmal tonic upgaze	1	SALL4 CL E G H	57167	15924	OMIM:147750	Ivic syndrome			86
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	SAMD9L CL E G H	219285	1349	OMIM:159550	Ataxia-Pancytopenia syndrome			4
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	SAMD9L CL E G H	219285	1349	ORPHA:2585	Ataxia-pancytopenia syndrome			4
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	SAMD9L CL E G H	219285	1349	OMIM:619806	SPINOCEREBELLAR ATAXIA 49; SCA49			4
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	SAMD9L CL E G H	219285	1349	OMIM:619806	SPINOCEREBELLAR ATAXIA 49; SCA49			4
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	SAMHD1 CL E G H	25939	15925	ORPHA:51	Aicardi-Goutières syndrome			55
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	SARDH CL E G H	1757	10536	ORPHA:3129	Sarcosinemia			4
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	SATB2 CL E G H	23314	21637	ORPHA:251019	2q32q33 microdeletion syndrome			34
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	SATB2 CL E G H	23314	21637	ORPHA:251028	SATB2-associated syndrome due to a chromosomal rearrangement			34
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	SATB2 CL E G H	23314	21637	ORPHA:576283	SATB2-associated syndrome due to a pathogenic variant			34
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	SBF1 CL E G H	6305	10542	OMIM:615284	Charcot-Marie-Tooth disease, type 4B3			16
HP:0000496	HP:0000597	Ophthalmoparesis	1	SBF1 CL E G H	6305	10542	OMIM:615284	Charcot-Marie-Tooth disease, type 4B3			16
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	SCAPER CL E G H	49855	13081	ORPHA:110	Bardet-Biedl syndrome
HP:0000496	HP:0000597	Ophthalmoparesis	1	SCAPER CL E G H	49855	13081	ORPHA:791	Retinitis pigmentosa
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	SCAPER CL E G H	49855	13081	ORPHA:791	Retinitis pigmentosa
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	SCN1A CL E G H	6323	10585	OMIM:619317	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 6B; DEE6B			1053
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	SCN1A CL E G H	6323	10585	ORPHA:569	Familial or sporadic hemiplegic migraine			1053
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	SCN1B CL E G H	6324	10586	ORPHA:1934	Early infantile epileptic encephalopathy			126
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	SCN2A CL E G H	6326	10588	ORPHA:1934	Early infantile epileptic encephalopathy			427
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	SCN2A CL E G H	6326	10588	OMIM:618924	EPISODIC ATAXIA, TYPE 9; EA9			427
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	SCN3A CL E G H	6328	10590	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040284 - Very rare		70
HP:0000496	HP:0000597	Ophthalmoparesis	1	SCN4A CL E G H	6329	10591	ORPHA:99736	Acetazolamide-responsive myotonia	HP:0040283 - Occasional		263
HP:0000496	HP:0000597	Ophthalmoparesis	1	SCN4A CL E G H	6329	10591	ORPHA:682	Hyperkalemic periodic paralysis	HP:0040283 - Occasional		263
HP:0000496	HP:0000597	Ophthalmoparesis	1	SCN4A CL E G H	6329	10591	OMIM:614198	Myasthenic syndrome, congenital, 16			263
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	SCN4A CL E G H	6329	10591	ORPHA:99734	Myotonia fluctuans			263
HP:0000496	HP:0000597	Ophthalmoparesis	1	SCN4A CL E G H	6329	10591	ORPHA:99735	Myotonia permanens	HP:0040283 - Occasional		263
HP:0000496	HP:0000597	Ophthalmoparesis	1	SCN4A CL E G H	6329	10591	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent		263
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	SCN8A CL E G H	6334	10596	OMIM:614306	Cognitive impairment with or without cerebellar ataxia			357
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	SCN8A CL E G H	6334	10596	OMIM:614306	Cognitive impairment with or without cerebellar ataxia			357
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	SCN8A CL E G H	6334	10596	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040284 - Very rare		357
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	SCNM1 CL E G H	79005	23136	OMIM:620107
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	SCO2 CL E G H	9997	10604	ORPHA:521411	Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect			40
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	SCO2 CL E G H	9997	10604	OMIM:604377	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1			40
HP:0000496	HP:0007941	Limited extraocular movements	1	SCO2 CL E G H	9997	10604	OMIM:604377	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1	.		40
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	SCO2 CL E G H	9997	10604	OMIM:604377	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1			40
HP:0000496	HP:0000570	Abnormal saccadic eye movements	1	SCO2 CL E G H	9997	10604	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040283 - Occasional		40
HP:0000496	HP:0000597	Ophthalmoparesis	1	SCO2 CL E G H	9997	10604	ORPHA:70474	Leigh syndrome with cardiomyopathy			40
HP:0000496	HP:0007941	Limited extraocular movements	1	SCO2 CL E G H	9997	10604	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040282 - Frequent		40
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	SCO2 CL E G H	9997	10604	ORPHA:70474	Leigh syndrome with cardiomyopathy			40
HP:0000496	HP:0000570	Abnormal saccadic eye movements	1	SCP2 CL E G H	6342	10606	OMIM:613724	Leukoencephalopathy with dystonia and motor neuropathy	.		4
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	SCUBE3 CL E G H	222663	13655	OMIM:619184	SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES 2; SSFSC2			1
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	SCUBE3 CL E G H	222663	13655	OMIM:619184	SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES 2; SSFSC2			1
HP:0000496	HP:0000570	Abnormal saccadic eye movements	1	SCYL1 CL E G H	57410	14372	ORPHA:466794	Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome			5
HP:0000496	HP:0000617	Abnormality of ocular smooth pursuit	1	SCYL1 CL E G H	57410	14372	ORPHA:466794	Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome			5
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	SDCCAG8 CL E G H	10806	10671	ORPHA:110	Bardet-Biedl syndrome			61
HP:0000496	HP:0000597	Ophthalmoparesis	1	SDHA CL E G H	6389	10680	ORPHA:3208	Isolated succinate-CoQ reductase deficiency			304
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	SDHA CL E G H	6389	10680	ORPHA:3208	Isolated succinate-CoQ reductase deficiency			304
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	SDHA CL E G H	6389	10680	ORPHA:255241	Leigh syndrome with leukodystrophy			304
HP:0000496	HP:0000597	Ophthalmoparesis	1	SDHA CL E G H	6389	10680	ORPHA:255241	Leigh syndrome with leukodystrophy			304
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	SDHA CL E G H	6389	10680	ORPHA:255241	Leigh syndrome with leukodystrophy			304
HP:0000496	HP:0000597	Ophthalmoparesis	1	SDHA CL E G H	6389	10680	OMIM:252011	Mitochondrial complex II deficiency			304
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	SDHA CL E G H	6389	10680	OMIM:252011	Mitochondrial complex II deficiency			304
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	SDHA CL E G H	6389	10680	OMIM:619259	NEURODEGENERATION WITH ATAXIA AND LATE-ONSET OPTIC ATROPHY; NDAXOA			304
HP:0000496	HP:0000597	Ophthalmoparesis	1	SDHAF1 CL E G H	644096	33867	ORPHA:3208	Isolated succinate-CoQ reductase deficiency			16
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	SDHAF1 CL E G H	644096	33867	ORPHA:3208	Isolated succinate-CoQ reductase deficiency			16
HP:0000496	HP:0000597	Ophthalmoparesis	1	SDHB CL E G H	6390	10681	ORPHA:3208	Isolated succinate-CoQ reductase deficiency			237
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	SDHB CL E G H	6390	10681	ORPHA:3208	Isolated succinate-CoQ reductase deficiency			237
HP:0000496	HP:0000597	Ophthalmoparesis	1	SDHD CL E G H	6392	10683	ORPHA:3208	Isolated succinate-CoQ reductase deficiency			129
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	SDHD CL E G H	6392	10683	ORPHA:3208	Isolated succinate-CoQ reductase deficiency			129
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	SDHD CL E G H	6392	10683	OMIM:619167	MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 3; MC2DN3			129
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	SEC23A CL E G H	10484	10701	OMIM:607812	Craniolenticulosutural dysplasia			2
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome
HP:0000496	HP:0000597	Ophthalmoparesis	1	SELENON CL E G H	57190	15999	ORPHA:2020	Congenital fiber-type disproportion myopathy			144
HP:0000496	HP:0000597	Ophthalmoparesis	1	SELENON CL E G H	57190	15999	OMIM:255310	Myopathy, congenital, with fiber-type disproportion			144
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	SEMA3A CL E G H	10371	10723	ORPHA:478	Kallmann syndrome			14
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	SEMA3E CL E G H	9723	10727	ORPHA:138	CHARGE syndrome			16
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	SEMA3E CL E G H	9723	10727	ORPHA:138	CHARGE syndrome			16
HP:0000496	HP:0000597	Ophthalmoparesis	1	SEMA4A CL E G H	64218	10729	ORPHA:791	Retinitis pigmentosa			48
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	SEMA4A CL E G H	64218	10729	ORPHA:791	Retinitis pigmentosa			48
HP:0000496	HP:0033980	Paroxysmal tonic upgaze	1	SEPSECS CL E G H	51091	30605	OMIM:613811	Pontocerebellar hypoplasia, type 2D			66
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	SERPINI1 CL E G H	5274	8943	OMIM:604218	Encephalopathy, familial, with neuroserpin inclusion bodies			28
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	SET CL E G H	6418	10760	OMIM:618106	Mental retardation, autosomal dominant 58			1
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	SETBP1 CL E G H	26040	15573	OMIM:616078	Mental retardation, autosomal dominant 29			143
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome			60
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome			60
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	SETD5 CL E G H	55209	25566	ORPHA:404440	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency			43
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	SETD5 CL E G H	55209	25566	OMIM:615761	MENTAL RETARDATION, AUTOSOMAL DOMINANT 23; MRD23			43
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	SETX CL E G H	23064	445	ORPHA:64753	Spinocerebellar ataxia with axonal neuropathy type 2			162
HP:0000496	HP:0000617	Abnormality of ocular smooth pursuit	1	SETX CL E G H	23064	445	ORPHA:64753	Spinocerebellar ataxia with axonal neuropathy type 2			162
HP:0000496	HP:0000657	Oculomotor apraxia	1	SETX CL E G H	23064	445	ORPHA:64753	Spinocerebellar ataxia with axonal neuropathy type 2	HP:0040282 - Frequent		162
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	SETX CL E G H	23064	445	ORPHA:64753	Spinocerebellar ataxia with axonal neuropathy type 2			162
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	SETX CL E G H	23064	445	OMIM:606002	Spinocerebellar ataxia, autosomal recessive 1			162
HP:0000496	HP:0000617	Abnormality of ocular smooth pursuit	1	SETX CL E G H	23064	445	OMIM:606002	Spinocerebellar ataxia, autosomal recessive 1			162
HP:0000496	HP:0000657	Oculomotor apraxia	1	SETX CL E G H	23064	445	OMIM:606002	Spinocerebellar ataxia, autosomal recessive 1			162
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	SETX CL E G H	23064	445	OMIM:606002	Spinocerebellar ataxia, autosomal recessive 1			162
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	SF3B2 CL E G H	10992	10769	OMIM:164210	Hemifacial microsomia			2
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	SGPL1 CL E G H	8879	10817	OMIM:617575	Nephrotic syndrome, type 14			8
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	SH3TC2 CL E G H	79628	29427	ORPHA:99949	Charcot-Marie-Tooth disease type 4C			493
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	SH3TC2 CL E G H	79628	29427	OMIM:601596	Charcot-Marie-Tooth disease, type 4C			493
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	SHANK3 CL E G H	85358	14294	ORPHA:48652	Monosomy 22q13.3			53
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	SHANK3 CL E G H	85358	14294	OMIM:606232	Phelan-Mcdermid syndrome			53
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	SHH CL E G H	6469	10848	ORPHA:280200	Microform holoprosencephaly			67
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	SHMT2 CL E G H	6472	10852	OMIM:619121	NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES; NEDCASB
HP:0000496	HP:0000570	Abnormal saccadic eye movements	1	SHMT2 CL E G H	6472	10852	OMIM:619121	NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES; NEDCASB
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	SHOC2 CL E G H	8036	15454	OMIM:607721	Noonan syndrome-like with loose anagen hair 1			74
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	SHROOM4 CL E G H	57477	29215	ORPHA:85288	X-linked intellectual disability, Stocco Dos Santos type			42
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	SIAH1 CL E G H	6477	10857	OMIM:619314	BURATTI-HAREL SYNDROME; BURHAS
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	SIGMAR1 CL E G H	10280	8157	ORPHA:300605	Juvenile amyotrophic lateral sclerosis			6
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	SIGMAR1 CL E G H	10280	8157	ORPHA:300605	Juvenile amyotrophic lateral sclerosis			6
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	SIK1 CL E G H	150094	11142	ORPHA:1934	Early infantile epileptic encephalopathy			11
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	SIL1 CL E G H	64374	24624	ORPHA:559	Marinesco-Sjögren syndrome			67
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	SIL1 CL E G H	64374	24624	ORPHA:559	Marinesco-Sjögren syndrome			67
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	SIL1 CL E G H	64374	24624	OMIM:248800	Marinesco-Sjogren syndrome			67
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	SIL1 CL E G H	64374	24624	OMIM:248800	Marinesco-Sjogren syndrome			67
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	SIM1 CL E G H	6492	10882	ORPHA:171829	6q16 microdeletion syndrome			40
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	SIM1 CL E G H	6492	10882	ORPHA:398079	SIM1-related Prader-Willi-like syndrome			40
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	SIN3A CL E G H	25942	19353	ORPHA:94065	15q24 microdeletion syndrome			9
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	SIN3A CL E G H	25942	19353	ORPHA:94065	15q24 microdeletion syndrome			9
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome			9
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome			9
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	SIX3 CL E G H	6496	10889	ORPHA:280200	Microform holoprosencephaly			32
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	SIX6 CL E G H	4990	10892	ORPHA:35612	Nanophthalmos			20
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	SIX6 CL E G H	4990	10892	OMIM:212550	Optic disc anomalies with retinal and/or macular dystrophy			20
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	SKI CL E G H	6497	10896	ORPHA:1606	1p36 deletion syndrome			150
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	SKI CL E G H	6497	10896	ORPHA:1606	1p36 deletion syndrome			150
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	SKI CL E G H	6497	10896	OMIM:182212	Shprintzen-Goldberg craniosynostosis syndrome			150
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	SKI CL E G H	6497	10896	ORPHA:2462	Shprintzen-Goldberg syndrome			150
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	SLC12A6 CL E G H	9990	10914	OMIM:218000	Agenesis of the corpus callosum with peripheral neuropathy			163
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	SLC12A6 CL E G H	9990	10914	ORPHA:1496	Corpus callosum agenesis-neuronopathy syndrome			163
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	SLC12A6 CL E G H	9990	10914	ORPHA:1496	Corpus callosum agenesis-neuronopathy syndrome			163
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	SLC13A5 CL E G H	284111	23089	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040284 - Very rare		73
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	SLC16A2 CL E G H	6567	10923	OMIM:300523	Allan-Herndon-Dudley syndrome	.		57
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	SLC16A2 CL E G H	6567	10923	ORPHA:59	Allan-Herndon-Dudley syndrome			57
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	SLC16A2 CL E G H	6567	10923	OMIM:300523	Allan-Herndon-Dudley syndrome			57
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	SLC17A5 CL E G H	26503	10933	OMIM:269920	Infantile sialic acid storage disease			78
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	SLC17A5 CL E G H	26503	10933	OMIM:604369	Salla disease			78
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	SLC17A5 CL E G H	26503	10933	OMIM:604369	Salla disease			78
HP:0000496	HP:0000597	Ophthalmoparesis	1	SLC18A3 CL E G H	6572	10936	OMIM:617239	Myasthenic syndrome, congenital, 21, presynaptic			2
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	SLC18A3 CL E G H	6572	10936	OMIM:617239	Myasthenic syndrome, congenital, 21, presynaptic			2
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	SLC18A3 CL E G H	6572	10936	ORPHA:98914	Presynaptic congenital myasthenic syndromes			2
HP:0000496	HP:0000597	Ophthalmoparesis	1	SLC18A3 CL E G H	6572	10936	ORPHA:98914	Presynaptic congenital myasthenic syndromes			2
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	SLC18A3 CL E G H	6572	10936	ORPHA:98914	Presynaptic congenital myasthenic syndromes			2
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	SLC19A2 CL E G H	10560	10938	OMIM:249270	Thiamine-Responsive megaloblastic anemia syndrome			55
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	SLC19A3 CL E G H	80704	16266	ORPHA:255241	Leigh syndrome with leukodystrophy			110
HP:0000496	HP:0000597	Ophthalmoparesis	1	SLC19A3 CL E G H	80704	16266	ORPHA:255241	Leigh syndrome with leukodystrophy			110
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	SLC19A3 CL E G H	80704	16266	ORPHA:255241	Leigh syndrome with leukodystrophy			110
HP:0000496	HP:0000597	Ophthalmoparesis	1	SLC19A3 CL E G H	80704	16266	OMIM:607483	Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2)			110
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	SLC19A3 CL E G H	80704	16266	OMIM:607483	Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2)			110
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	SLC1A2 CL E G H	6506	10940	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040284 - Very rare		3
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	SLC1A3 CL E G H	6507	10941	ORPHA:2131	Alternating hemiplegia of childhood			63
HP:0000496	HP:0000570	Abnormal saccadic eye movements	1	SLC1A3 CL E G H	6507	10941	ORPHA:2131	Alternating hemiplegia of childhood			63
HP:0000496	HP:0000657	Oculomotor apraxia	1	SLC1A3 CL E G H	6507	10941	ORPHA:2131	Alternating hemiplegia of childhood	HP:0040283 - Occasional		63
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	SLC1A3 CL E G H	6507	10941	ORPHA:2131	Alternating hemiplegia of childhood	HP:0040282 - Frequent		63
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	SLC1A3 CL E G H	6507	10941	ORPHA:209967	Episodic ataxia type 6			63
HP:0000496	HP:0000570	Abnormal saccadic eye movements	1	SLC1A3 CL E G H	6507	10941	OMIM:612656	Episodic ataxia, type 6			63
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	SLC1A3 CL E G H	6507	10941	OMIM:612656	Episodic ataxia, type 6			63
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	SLC24A1 CL E G H	9187	10975	ORPHA:215	Congenital stationary night blindness			66
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	SLC24A1 CL E G H	9187	10975	ORPHA:215	Congenital stationary night blindness			66
HP:0000496	HP:0031705	Compensatory head posture	1	SLC24A1 CL E G H	9187	10975	ORPHA:215	Congenital stationary night blindness	HP:0040283 - Occasional		66
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	SLC24A5 CL E G H	283652	20611	OMIM:113750	Albinism, oculocutaneous, type VI			12
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	SLC24A5 CL E G H	283652	20611	ORPHA:370097	Oculocutaneous albinism type 6			12
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	SLC25A1 CL E G H	6576	10979	ORPHA:98914	Presynaptic congenital myasthenic syndromes			28
HP:0000496	HP:0000597	Ophthalmoparesis	1	SLC25A1 CL E G H	6576	10979	ORPHA:98914	Presynaptic congenital myasthenic syndromes			28
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	SLC25A1 CL E G H	6576	10979	ORPHA:98914	Presynaptic congenital myasthenic syndromes			28
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	SLC25A20 CL E G H	788	1421	ORPHA:159	Carnitine-acylcarnitine translocase deficiency			40
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	SLC25A22 CL E G H	79751	19954	ORPHA:1934	Early infantile epileptic encephalopathy			166
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	SLC25A24 CL E G H	29957	20662	ORPHA:2095	Gorlin-Chaudhry-Moss syndrome
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	SLC25A24 CL E G H	29957	20662	ORPHA:2963	Progeroid syndrome, Petty type
HP:0000496	HP:0000597	Ophthalmoparesis	1	SLC25A4 CL E G H	291	10990	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040282 - Frequent		68
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	SLC25A4 CL E G H	291	10990	ORPHA:1369	Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome			68
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	SLC25A4 CL E G H	291	10990	ORPHA:1369	Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome			68
HP:0000496	HP:0000597	Ophthalmoparesis	1	SLC25A4 CL E G H	291	10990	OMIM:609283	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2			68
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	SLC25A46 CL E G H	91137	25198	OMIM:616505	Neuropathy, hereditary motor and sensory, type VIB			14
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	SLC25A46 CL E G H	91137	25198	OMIM:616505	Neuropathy, hereditary motor and sensory, type VIB			14
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	SLC25A46 CL E G H	91137	25198	ORPHA:2254	Pontocerebellar hypoplasia type 1			14
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	SLC25A46 CL E G H	91137	25198	ORPHA:2254	Pontocerebellar hypoplasia type 1			14
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	SLC29A3 CL E G H	55315	23096	ORPHA:1782	Dysosteosclerosis			68
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	SLC2A1 CL E G H	6513	11005	ORPHA:64280	Childhood absence epilepsy			255
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	SLC2A1 CL E G H	6513	11005	ORPHA:71277	Classic glucose transporter type 1 deficiency syndrome			255
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	SLC2A1 CL E G H	6513	11005	ORPHA:71277	Classic glucose transporter type 1 deficiency syndrome			255
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	SLC2A1 CL E G H	6513	11005	OMIM:606777	Glut1 deficiency syndrome 1			255
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	SLC2A1 CL E G H	6513	11005	ORPHA:168577	Hereditary cryohydrocytosis with reduced stomatin			255
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	SLC2A1 CL E G H	6513	11005	OMIM:608885	Stomatin-Deficient cryohydrocytosis with neurologic defects			255
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	SLC2A10 CL E G H	81031	13444	ORPHA:3342	Arterial tortuosity syndrome			178
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	SLC30A9 CL E G H	10463	1329	OMIM:617595	Birk-Landau-Perez syndrome			1
HP:0000496	HP:0000657	Oculomotor apraxia	1	SLC30A9 CL E G H	10463	1329	OMIM:617595	Birk-Landau-Perez syndrome	.		1
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	SLC33A1 CL E G H	9197	95	OMIM:614482	Congenital cataracts, hearing loss, and neurodegeneration			48
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	SLC35A1 CL E G H	10559	11021	OMIM:603585	Congenital disorder of glycosylation, type IIf			24
HP:0000496	HP:0000570	Abnormal saccadic eye movements	1	SLC35A2 CL E G H	7355	11022	OMIM:300896	Congenital disorder of glycosylation, type IIm			27
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	SLC35A2 CL E G H	7355	11022	OMIM:300896	Congenital disorder of glycosylation, type IIm			27
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	SLC35A2 CL E G H	7355	11022	ORPHA:356961	SLC35A2-CDG			27
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	SLC35A2 CL E G H	7355	11022	ORPHA:356961	SLC35A2-CDG			27
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	SLC35C1 CL E G H	55343	20197	ORPHA:99843	Leukocyte adhesion deficiency type II			71
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	SLC37A4 CL E G H	2542	4061	OMIM:619525	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw; CDG2W			110
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	SLC38A3 CL E G H	10991	18044	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040284 - Very rare
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	SLC38A8 CL E G H	146167	32434	OMIM:609218	Foveal hypoplasia 2			13
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	SLC38A8 CL E G H	146167	32434	OMIM:609218	Foveal hypoplasia 2			13
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	SLC39A8 CL E G H	64116	20862	OMIM:616721	Congenital disorder of glycosylation, type IIN			11
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	SLC39A8 CL E G H	64116	20862	OMIM:616721	Congenital disorder of glycosylation, type IIN			11
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	SLC39A8 CL E G H	64116	20862	ORPHA:468699	SLC39A8-CDG			11
HP:0000496	HP:0025404	Abnormal visual fixation	1	SLC39A8 CL E G H	64116	20862	ORPHA:468699	SLC39A8-CDG			11
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	SLC39A8 CL E G H	64116	20862	ORPHA:468699	SLC39A8-CDG			11
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	SLC44A1 CL E G H	23446	18798	OMIM:618868	NEURODEGENERATION, CHILDHOOD-ONSET, WITH ATAXIA, TREMOR, OPTIC ATROPHY, AND COGNITIVE DECLINE; CONATOC			1
HP:0000496	HP:0000570	Abnormal saccadic eye movements	1	SLC44A1 CL E G H	23446	18798	OMIM:618868	NEURODEGENERATION, CHILDHOOD-ONSET, WITH ATAXIA, TREMOR, OPTIC ATROPHY, AND COGNITIVE DECLINE; CONATOC			1
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	SLC45A2 CL E G H	51151	16472	OMIM:606574	ALBINISM, OCULOCUTANEOUS, TYPE IV; OCA4			42
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	SLC45A2 CL E G H	51151	16472	ORPHA:79435	Oculocutaneous albinism type 4			42
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	SLC4A11 CL E G H	83959	16438	ORPHA:293603	Congenital hereditary endothelial dystrophy type II			66
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	SLC4A11 CL E G H	83959	16438	ORPHA:1490	Corneal dystrophy-perceptive deafness syndrome			66
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	SLC52A2 CL E G H	79581	30224	OMIM:614707	Brown-Vialetto-Van laere syndrome 2			47
HP:0000496	HP:0000597	Ophthalmoparesis	1	SLC52A3 CL E G H	113278	16187	OMIM:211530	Brown-Vialetto-Van laere syndrome 1			51
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	SLC5A6 CL E G H	8884	11041	OMIM:618973	NEURODEGENERATION, INFANTILE-ONSET, BIOTIN-RESPONSIVE; NERIB
HP:0000496	HP:0000597	Ophthalmoparesis	1	SLC5A7 CL E G H	60482	14025	OMIM:617143	Myasthenic syndrome, congenital, 20, presynaptic	.		9
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	SLC5A7 CL E G H	60482	14025	ORPHA:98914	Presynaptic congenital myasthenic syndromes			9
HP:0000496	HP:0000597	Ophthalmoparesis	1	SLC5A7 CL E G H	60482	14025	ORPHA:98914	Presynaptic congenital myasthenic syndromes			9
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	SLC5A7 CL E G H	60482	14025	ORPHA:98914	Presynaptic congenital myasthenic syndromes			9
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	SLC6A19 CL E G H	340024	27960	ORPHA:2116	Hartnup disease			12
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	SLC6A19 CL E G H	340024	27960	ORPHA:2116	Hartnup disease			12
HP:0000496	HP:0000570	Abnormal saccadic eye movements	1	SLC6A3 CL E G H	6531	11049	OMIM:613135	Parkinsonism-Dystonia, infantile, 1			13
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	SLC6A3 CL E G H	6531	11049	OMIM:613135	Parkinsonism-Dystonia, infantile, 1			13
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	SLC6A6 CL E G H	6533	11052	OMIM:145350	Hypotaurinemic retinal degeneration and cardiomyopathy
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	SLC6A8 CL E G H	6535	11055	OMIM:300352	Creatine deficiency syndrome, X-linked			122
HP:0000496	HP:0000597	Ophthalmoparesis	1	SLC7A14 CL E G H	57709	29326	ORPHA:791	Retinitis pigmentosa			4
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	SLC7A14 CL E G H	57709	29326	ORPHA:791	Retinitis pigmentosa			4
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	SLC9A1 CL E G H	6548	11071	OMIM:616291	Lichtenstein-Knorr syndrome			2
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	SLC9A6 CL E G H	10479	11079	ORPHA:85278	Christianson syndrome			93
HP:0000496	HP:0000597	Ophthalmoparesis	1	SLC9A6 CL E G H	10479	11079	ORPHA:85278	Christianson syndrome			93
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	SLC9A6 CL E G H	10479	11079	ORPHA:85278	Christianson syndrome			93
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	SLC9A6 CL E G H	10479	11079	OMIM:300243	Mental retardation, x-linked syndromic, Christianson type			93
HP:0000496	HP:0000597	Ophthalmoparesis	1	SLC9A6 CL E G H	10479	11079	OMIM:300243	Mental retardation, x-linked syndromic, Christianson type			93
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	SLC9A7 CL E G H	84679	17123	OMIM:301024	Intellectual developmental disorder, X-linked 108
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	SLX4 CL E G H	84464	23845	ORPHA:84	Fanconi anemia			274
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	SLX4 CL E G H	84464	23845	ORPHA:84	Fanconi anemia			274
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	SMAD3 CL E G H	4088	6769	OMIM:613795	LOEYS-DIETZ SYNDROME 3; LDS3			260
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	SMAD4 CL E G H	4089	6770	OMIM:139210	Myhre syndrome			504
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	SMARCA4 CL E G H	6597	11100	ORPHA:1465	Coffin-Siris syndrome			617
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	SMARCB1 CL E G H	6598	11103	ORPHA:1465	Coffin-Siris syndrome			87
HP:0000496	HP:0000597	Ophthalmoparesis	1	SMARCB1 CL E G H	6598	11103	ORPHA:2495	Meningioma			87
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	SMARCC2 CL E G H	6601	11105	ORPHA:1465	Coffin-Siris syndrome			1
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	SMARCD1 CL E G H	6602	11106	ORPHA:1465	Coffin-Siris syndrome
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	SMARCE1 CL E G H	6605	11109	ORPHA:1465	Coffin-Siris syndrome			47
HP:0000496	HP:0000597	Ophthalmoparesis	1	SMARCE1 CL E G H	6605	11109	ORPHA:2495	Meningioma			47
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	SMC1A CL E G H	8243	11111	ORPHA:199	Cornelia de Lange syndrome			135
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	SMC1A CL E G H	8243	11111	ORPHA:199	Cornelia de Lange syndrome			135
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	SMC3 CL E G H	9126	2468	ORPHA:199	Cornelia de Lange syndrome			91
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	SMC3 CL E G H	9126	2468	ORPHA:199	Cornelia de Lange syndrome			91
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	SMG8 CL E G H	55181	25551	OMIM:619268	ALZAHRANI-KUWAHARA SYNDROME; ALKUS
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	SMG9 CL E G H	56006	25763	OMIM:619995				2
HP:0000496	HP:0000597	Ophthalmoparesis	1	SMO CL E G H	6608	11119	ORPHA:2495	Meningioma			22
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	SMPD1 CL E G H	6609	11120	ORPHA:77293	Niemann-Pick disease type B			164
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	SNAP25 CL E G H	6616	11132	ORPHA:98914	Presynaptic congenital myasthenic syndromes			2
HP:0000496	HP:0000597	Ophthalmoparesis	1	SNAP25 CL E G H	6616	11132	ORPHA:98914	Presynaptic congenital myasthenic syndromes			2
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	SNAP25 CL E G H	6616	11132	ORPHA:98914	Presynaptic congenital myasthenic syndromes			2
HP:0000496	HP:0000570	Abnormal saccadic eye movements	1	SNCA CL E G H	6622	11138	ORPHA:171695	Parkinsonian-pyramidal syndrome			65
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	SNIP1 CL E G H	79753	30587	OMIM:614501	Psychomotor retardation, epilepsy, and craniofacial dysmorphism			3
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	SNIP1 CL E G H	79753	30587	OMIM:614501	Psychomotor retardation, epilepsy, and craniofacial dysmorphism			3
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	SNORD115-1 CL E G H	338433	33020	OMIM:176270	Prader-Willi syndrome
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	SNORD116-1 CL E G H	100033413	33067	OMIM:176270	Prader-Willi syndrome
HP:0000496	HP:0000597	Ophthalmoparesis	1	SNRNP200 CL E G H	23020	30859	ORPHA:791	Retinitis pigmentosa			83
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	SNRNP200 CL E G H	23020	30859	ORPHA:791	Retinitis pigmentosa			83
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	SNRPN CL E G H	6638	11164	OMIM:105830	Angelman syndrome			37
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	SNRPN CL E G H	6638	11164	OMIM:105830	Angelman syndrome			37
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	SNRPN CL E G H	6638	11164	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15			37
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	SNRPN CL E G H	6638	11164	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1			37
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	SNRPN CL E G H	6638	11164	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2			37
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	SNRPN CL E G H	6638	11164	ORPHA:177907	Prader-Willi syndrome due to translocation			37
HP:0000496	HP:0000570	Abnormal saccadic eye movements	1	SNX10 CL E G H	29887	14974	ORPHA:667	Autosomal recessive malignant osteopetrosis			2
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	SNX10 CL E G H	29887	14974	ORPHA:667	Autosomal recessive malignant osteopetrosis			2
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	SNX14 CL E G H	57231	14977	ORPHA:397709	Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome			14
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	SNX14 CL E G H	57231	14977	OMIM:616354	Spinocerebellar ataxia, autosomal recessive 20			14
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	SOBP CL E G H	55084	29256	OMIM:613671	Mental retardation, anterior maxillary protrusion, and strabismus			29
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	SON CL E G H	6651	11183	ORPHA:500150	Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome			12
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	SON CL E G H	6651	11183	ORPHA:500150	Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome			12
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	SON CL E G H	6651	11183	OMIM:617140	Zttk syndrome			12
HP:0000496	HP:0000657	Oculomotor apraxia	1	SORL1 CL E G H	6653	11185	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease	HP:0040283 - Occasional		3
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	SOS1 CL E G H	6654	11187	ORPHA:648	Noonan syndrome			315
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	SOS1 CL E G H	6654	11187	ORPHA:648	Noonan syndrome			315
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	SOS2 CL E G H	6655	11188	ORPHA:648	Noonan syndrome			30
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	SOS2 CL E G H	6655	11188	ORPHA:648	Noonan syndrome			30
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	SOST CL E G H	50964	13771	OMIM:269500	Sclerosteosis 1			26
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	SOST CL E G H	50964	13771	OMIM:269500	Sclerosteosis 1			26
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	SOX10 CL E G H	6663	11190	ORPHA:478	Kallmann syndrome			61
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	SOX10 CL E G H	6663	11190	OMIM:609136	Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease			61
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	SOX10 CL E G H	6663	11190	ORPHA:163746	Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease			61
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	SOX10 CL E G H	6663	11190	OMIM:611584	Waardenburg syndrome, type 2E			61
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	SOX11 CL E G H	6664	11191	ORPHA:1465	Coffin-Siris syndrome			14
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	SOX2 CL E G H	6657	11195	ORPHA:35612	Nanophthalmos			33
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	SOX2 CL E G H	6657	11195	ORPHA:3157	Septo-optic dysplasia spectrum			33
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	SOX2 CL E G H	6657	11195	ORPHA:3157	Septo-optic dysplasia spectrum			33
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	SOX3 CL E G H	6658	11199	ORPHA:3157	Septo-optic dysplasia spectrum			24
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	SOX3 CL E G H	6658	11199	ORPHA:3157	Septo-optic dysplasia spectrum			24
HP:0000496	HP:0000570	Abnormal saccadic eye movements	1	SOX3 CL E G H	6658	11199	ORPHA:67045	X-linked intellectual disability with isolated growth hormone deficiency	HP:0040283 - Occasional		24
HP:0000496	HP:0000657	Oculomotor apraxia	1	SOX3 CL E G H	6658	11199	ORPHA:67045	X-linked intellectual disability with isolated growth hormone deficiency	HP:0040283 - Occasional		24
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	SOX3 CL E G H	6658	11199	ORPHA:67045	X-linked intellectual disability with isolated growth hormone deficiency			24
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	SOX4 CL E G H	6659	11200	ORPHA:1465	Coffin-Siris syndrome
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	SOX5 CL E G H	6660	11201	ORPHA:313892	Developmental and speech delay due to SOX5 deficiency			11
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	SOX5 CL E G H	6660	11201	OMIM:616803	Lamb-Shaffer syndrome			11
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	SPAST CL E G H	6683	11233	OMIM:182601	Spastic paraplegia 4, autosomal dominant			208
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	SPATA5 CL E G H	166378	18119	OMIM:616577	Epilepsy, hearing loss, and mental retardation syndrome			19
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	SPATA5 CL E G H	166378	18119	OMIM:616577	Epilepsy, hearing loss, and mental retardation syndrome			19
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	SPATA5 CL E G H	166378	18119	ORPHA:457351	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome			19
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	SPATA7 CL E G H	55812	20423	ORPHA:65	Leber congenital amaurosis			48
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	SPATA7 CL E G H	55812	20423	OMIM:604232	LEBER CONGENITAL AMAUROSIS 3; LCA3			48
HP:0000496	HP:0000597	Ophthalmoparesis	1	SPATA7 CL E G H	55812	20423	ORPHA:791	Retinitis pigmentosa			48
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	SPATA7 CL E G H	55812	20423	ORPHA:791	Retinitis pigmentosa			48
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	SPATA7 CL E G H	55812	20423	ORPHA:364055	Severe early-childhood-onset retinal dystrophy			48
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	SPATA7 CL E G H	55812	20423	ORPHA:364055	Severe early-childhood-onset retinal dystrophy			48
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	SPECC1L CL E G H	23384	29022	ORPHA:1519	SPECC1L-related hypertelorism syndrome			6
HP:0000496	HP:0000597	Ophthalmoparesis	1	SPEG CL E G H	10290	16901	ORPHA:169186	Autosomal recessive centronuclear myopathy	HP:0040283 - Occasional		20
HP:0000496	HP:0000597	Ophthalmoparesis	1	SPEG CL E G H	10290	16901	OMIM:615959	Myopathy, centronuclear, 5			20
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	SPEN CL E G H	23013	17575	ORPHA:1606	1p36 deletion syndrome			4
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	SPEN CL E G H	23013	17575	ORPHA:1606	1p36 deletion syndrome			4
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	SPG11 CL E G H	80208	11226	ORPHA:2822	Autosomal recessive spastic paraplegia type 11			287
HP:0000496	HP:0000617	Abnormality of ocular smooth pursuit	1	SPG11 CL E G H	80208	11226	ORPHA:2822	Autosomal recessive spastic paraplegia type 11			287
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	SPG11 CL E G H	80208	11226	ORPHA:2822	Autosomal recessive spastic paraplegia type 11			287
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	SPG11 CL E G H	80208	11226	ORPHA:300605	Juvenile amyotrophic lateral sclerosis			287
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	SPG11 CL E G H	80208	11226	ORPHA:300605	Juvenile amyotrophic lateral sclerosis			287
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	SPG11 CL E G H	80208	11226	OMIM:604360	Spastic paraplegia 11, autosomal recessive			287
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	SPG7 CL E G H	6687	11237	OMIM:607259	Spastic paraplegia 7, autosomal recessive			171
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	SPG7 CL E G H	6687	11237	OMIM:607259	Spastic paraplegia 7, autosomal recessive			171
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	SPG7 CL E G H	6687	11237	ORPHA:99013	Spastic paraplegia type 7			171
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	SPG7 CL E G H	6687	11237	ORPHA:99013	Spastic paraplegia type 7			171
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	SPOP CL E G H	8405	11254	OMIM:618829	NABAIS SA-DE VRIES SYNDROME, TYPE 2; NSDVS2			16
HP:0000496	HP:0000657	Oculomotor apraxia	1	SPR CL E G H	6697	11257	OMIM:612716	Dystonia, dopa-responsive, due to sepiapterin reductase deficiency	.		28
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	SPRED2 CL E G H	200734	17722	ORPHA:648	Noonan syndrome
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	SPRED2 CL E G H	200734	17722	ORPHA:648	Noonan syndrome
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	SPRY4 CL E G H	81848	15533	ORPHA:478	Kallmann syndrome			5
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	SPTBN2 CL E G H	6712	11276	ORPHA:352403	Spectrin-associated autosomal recessive cerebellar ataxia			126
HP:0000496	HP:0000570	Abnormal saccadic eye movements	1	SPTBN2 CL E G H	6712	11276	ORPHA:352403	Spectrin-associated autosomal recessive cerebellar ataxia			126
HP:0000496	HP:0000617	Abnormality of ocular smooth pursuit	1	SPTBN2 CL E G H	6712	11276	ORPHA:352403	Spectrin-associated autosomal recessive cerebellar ataxia			126
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	SPTBN2 CL E G H	6712	11276	ORPHA:352403	Spectrin-associated autosomal recessive cerebellar ataxia			126
HP:0000496	HP:0000617	Abnormality of ocular smooth pursuit	1	SPTBN2 CL E G H	6712	11276	OMIM:600224	Spinocerebellar ataxia 5			126
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	SPTBN2 CL E G H	6712	11276	OMIM:600224	Spinocerebellar ataxia 5			126
HP:0000496	HP:0000570	Abnormal saccadic eye movements	1	SPTBN2 CL E G H	6712	11276	OMIM:615386	Spinocerebellar ataxia, autosomal recessive 14			126
HP:0000496	HP:0000617	Abnormality of ocular smooth pursuit	1	SPTBN2 CL E G H	6712	11276	OMIM:615386	Spinocerebellar ataxia, autosomal recessive 14			126
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	SPTBN2 CL E G H	6712	11276	OMIM:615386	Spinocerebellar ataxia, autosomal recessive 14			126
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	SPTBN4 CL E G H	57731	14896	OMIM:617519	Neurodevelopmental disorder with hypotonia, neuropathy, and deafness			3
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	SPTLC1 CL E G H	10558	11277	ORPHA:300605	Juvenile amyotrophic lateral sclerosis			54
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	SPTLC1 CL E G H	10558	11277	ORPHA:300605	Juvenile amyotrophic lateral sclerosis			54
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	SQSTM1 CL E G H	8878	11280	ORPHA:275872	Frontotemporal dementia with motor neuron disease			62
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	SQSTM1 CL E G H	8878	11280	OMIM:617145	Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset			62
HP:0000496	HP:0000657	Oculomotor apraxia	1	SQSTM1 CL E G H	8878	11280	OMIM:617145	Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset	.		62
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	SQSTM1 CL E G H	8878	11280	OMIM:617145	Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset			62
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	SRCAP CL E G H	10847	16974	OMIM:619595	DEVELOPMENTAL DELAY, HYPOTONIA, MUSCULOSKELETAL DEFECTS, AND BEHAVIORAL ABNORMALITIES; DEHMBA			138
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	SRCAP CL E G H	10847	16974	ORPHA:2044	Floating-Harbor syndrome			138
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	SRCAP CL E G H	10847	16974	OMIM:136140	Floating-Harbor syndrome			138
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	SRD5A3 CL E G H	79644	25812	OMIM:612379	Congenital disorder of glycosylation, type IQ			80
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	SRD5A3 CL E G H	79644	25812	ORPHA:324737	SRD5A3-CDG			80
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	SREBF1 CL E G H	6720	11289	OMIM:619016	IFAP SYNDROME 2; IFAP2			1
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	SREBF1 CL E G H	6720	11289	OMIM:158310	Mucoepithelial dysplasia, hereditary			1
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	SREBF1 CL E G H	6720	11289	OMIM:158310	Mucoepithelial dysplasia, hereditary			1
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	SRPX2 CL E G H	27286	30668	ORPHA:98889	Bilateral perisylvian polymicrogyria			50
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	SRY CL E G H	6736	11311	ORPHA:1772	45,X/46,XY mixed gonadal dysgenesis			23
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	SSR4 CL E G H	6748	11326	OMIM:300934	Congenital disorder of glycosylation, type Iy			12
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	SSR4 CL E G H	6748	11326	ORPHA:370927	SSR4-CDG			12
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	STAG1 CL E G H	10274	11354	ORPHA:502434	STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome			9
HP:0000496	HP:0000597	Ophthalmoparesis	1	STIM1 CL E G H	6786	11386	OMIM:160565	Myopathy, tubular aggregate, 1			31
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	STRADA CL E G H	92335	30172	OMIM:611087	Polyhydramnios, megalencephaly, and symptomatic epilepsy			6
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	STT3A CL E G H	3703	6172	OMIM:619714	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iw, AUTOSOMAL DOMINANT; CDG1WAD			21
HP:0000496	HP:0000617	Abnormality of ocular smooth pursuit	1	STT3A CL E G H	3703	6172	ORPHA:370921	STT3A-CDG			21
HP:0000496	HP:0000597	Ophthalmoparesis	1	STUB1 CL E G H	10273	11427	ORPHA:412057	Autosomal recessive cerebellar ataxia due to STUB1 deficiency			14
HP:0000496	HP:0000617	Abnormality of ocular smooth pursuit	1	STUB1 CL E G H	10273	11427	ORPHA:412057	Autosomal recessive cerebellar ataxia due to STUB1 deficiency			14
HP:0000496	HP:0000657	Oculomotor apraxia	1	STUB1 CL E G H	10273	11427	ORPHA:412057	Autosomal recessive cerebellar ataxia due to STUB1 deficiency	HP:0040284 - Very rare		14
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	STUB1 CL E G H	10273	11427	ORPHA:412057	Autosomal recessive cerebellar ataxia due to STUB1 deficiency	HP:0040284 - Very rare		14
HP:0000496	HP:0000597	Ophthalmoparesis	1	STUB1 CL E G H	10273	11427	OMIM:615768	Spinocerebellar ataxia, autosomal recessive 16			14
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	STUB1 CL E G H	10273	11427	OMIM:615768	Spinocerebellar ataxia, autosomal recessive 16			14
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	STX16 CL E G H	8675	11431	ORPHA:94089	Pseudohypoparathyroidism type 1B			86
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	STX3 CL E G H	6809	11438	OMIM:619446	RETINAL DYSTROPHY AND MICROVILLUS INCLUSION DISEASE; RDMVID			1
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	STXBP1 CL E G H	6812	11444	ORPHA:495818	9q33.3q34.11 microdeletion syndrome			237
HP:0000496	HP:0000617	Abnormality of ocular smooth pursuit	1	STXBP1 CL E G H	6812	11444	OMIM:612164	Epileptic encephalopathy, early infantile, 4			237
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	SUCLA2 CL E G H	8803	11448	OMIM:612073	Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)			66
HP:0000496	HP:0000597	Ophthalmoparesis	1	SUCLA2 CL E G H	8803	11448	OMIM:612073	Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)			66
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	SUCLG1 CL E G H	8802	11449	ORPHA:17	Fatal infantile lactic acidosis with methylmalonic aciduria			60
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	SUFU CL E G H	51684	16466	OMIM:109400	Basal cell nevus syndrome			124
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	SUFU CL E G H	51684	16466	ORPHA:377	Gorlin syndrome			124
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	SUFU CL E G H	51684	16466	ORPHA:475	Joubert syndrome			124
HP:0000496	HP:0000657	Oculomotor apraxia	1	SUFU CL E G H	51684	16466	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent		124
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	SUFU CL E G H	51684	16466	ORPHA:475	Joubert syndrome			124
HP:0000496	HP:0000657	Oculomotor apraxia	1	SUFU CL E G H	51684	16466	OMIM:617757	Joubert syndrome 32	.		124
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	SUFU CL E G H	51684	16466	OMIM:617757	Joubert syndrome 32			124
HP:0000496	HP:0000597	Ophthalmoparesis	1	SUFU CL E G H	51684	16466	ORPHA:2495	Meningioma			124
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	SUFU CL E G H	51684	16466	ORPHA:280200	Microform holoprosencephaly			124
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	SUPT16H CL E G H	11198	11465	OMIM:619480	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND THIN CORPUS CALLOSUM; NEDDFAC
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	SURF1 CL E G H	6834	11474	OMIM:616684	Charcot-Marie-Tooth disease, type 4K			73
HP:0000496	HP:0000570	Abnormal saccadic eye movements	1	SURF1 CL E G H	6834	11474	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040283 - Occasional		73
HP:0000496	HP:0000597	Ophthalmoparesis	1	SURF1 CL E G H	6834	11474	ORPHA:70474	Leigh syndrome with cardiomyopathy			73
HP:0000496	HP:0007941	Limited extraocular movements	1	SURF1 CL E G H	6834	11474	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040282 - Frequent		73
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	SURF1 CL E G H	6834	11474	ORPHA:70474	Leigh syndrome with cardiomyopathy			73
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	SURF1 CL E G H	6834	11474	ORPHA:255241	Leigh syndrome with leukodystrophy			73
HP:0000496	HP:0000597	Ophthalmoparesis	1	SURF1 CL E G H	6834	11474	ORPHA:255241	Leigh syndrome with leukodystrophy			73
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	SURF1 CL E G H	6834	11474	ORPHA:255241	Leigh syndrome with leukodystrophy			73
HP:0000496	HP:0000597	Ophthalmoparesis	1	SURF1 CL E G H	6834	11474	OMIM:220110	Mitochondrial complex IV deficiency			73
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	SYNE1 CL E G H	23345	17089	OMIM:618484	Arthrogryposis multiplex congenita, Myogenic type			1129
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	SYNE1 CL E G H	23345	17089	ORPHA:88644	Autosomal recessive ataxia, Beauce type			1129
HP:0000496	HP:0000570	Abnormal saccadic eye movements	1	SYNE1 CL E G H	23345	17089	ORPHA:88644	Autosomal recessive ataxia, Beauce type	HP:0040283 - Occasional		1129
HP:0000496	HP:0000597	Ophthalmoparesis	1	SYNE1 CL E G H	23345	17089	ORPHA:88644	Autosomal recessive ataxia, Beauce type	HP:0040283 - Occasional		1129
HP:0000496	HP:0000617	Abnormality of ocular smooth pursuit	1	SYNE1 CL E G H	23345	17089	ORPHA:88644	Autosomal recessive ataxia, Beauce type			1129
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	SYNE1 CL E G H	23345	17089	ORPHA:319332	Autosomal recessive myogenic arthrogryposis multiplex congenita			1129
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	SYNE1 CL E G H	23345	17089	OMIM:610743	Spinocerebellar ataxia, autosomal recessive 8			1129
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	SYNE1 CL E G H	23345	17089	OMIM:610743	Spinocerebellar ataxia, autosomal recessive 8			1129
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	SYNGAP1 CL E G H	8831	11497	OMIM:612621	Mental retardation, autosomal dominant 5			108
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	SYNGAP1 CL E G H	8831	11497	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040284 - Very rare		108
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	SYNJ1 CL E G H	8867	11503	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040284 - Very rare		9
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	SYNJ1 CL E G H	8867	11503	OMIM:615530	Parkinson disease 20, early-onset			9
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	SYT1 CL E G H	6857	11509	OMIM:618218	Baker-Gordon syndrome			1
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	SYT1 CL E G H	6857	11509	OMIM:618218	Baker-Gordon syndrome			1
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	SYT1 CL E G H	6857	11509	ORPHA:522077	Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome			1
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	SYT1 CL E G H	6857	11509	ORPHA:522077	Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome			1
HP:0000496	HP:0000617	Abnormality of ocular smooth pursuit	1	SYT14 CL E G H	255928	23143	ORPHA:284271	Autosomal recessive cerebellar ataxia-psychomotor delay syndrome	HP:0040281 - Very frequent		4
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	SYT14 CL E G H	255928	23143	ORPHA:284271	Autosomal recessive cerebellar ataxia-psychomotor delay syndrome			4
HP:0000496	HP:0000617	Abnormality of ocular smooth pursuit	1	SYT14 CL E G H	255928	23143	OMIM:614229	Spinocerebellar ataxia, autosomal recessive 11			4
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	SYT14 CL E G H	255928	23143	OMIM:614229	Spinocerebellar ataxia, autosomal recessive 11			4
HP:0000496	HP:0000570	Abnormal saccadic eye movements	1	SYT2 CL E G H	127833	11510	OMIM:619461	MYASTHENIC SYNDROME, CONGENITAL, 7B, PRESYNAPTIC, AUTOSOMAL RECESSIVE; CMS7B			4
HP:0000496	HP:0007941	Limited extraocular movements	1	SYT2 CL E G H	127833	11510	OMIM:619461	MYASTHENIC SYNDROME, CONGENITAL, 7B, PRESYNAPTIC, AUTOSOMAL RECESSIVE; CMS7B			4
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	SYT2 CL E G H	127833	11510	ORPHA:98914	Presynaptic congenital myasthenic syndromes			4
HP:0000496	HP:0000597	Ophthalmoparesis	1	SYT2 CL E G H	127833	11510	ORPHA:98914	Presynaptic congenital myasthenic syndromes			4
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	SYT2 CL E G H	127833	11510	ORPHA:98914	Presynaptic congenital myasthenic syndromes			4
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	SZT2 CL E G H	23334	29040	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040284 - Very rare		123
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	TACO1 CL E G H	51204	24316	ORPHA:255241	Leigh syndrome with leukodystrophy			23
HP:0000496	HP:0000597	Ophthalmoparesis	1	TACO1 CL E G H	51204	24316	ORPHA:255241	Leigh syndrome with leukodystrophy			23
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	TACO1 CL E G H	51204	24316	ORPHA:255241	Leigh syndrome with leukodystrophy			23
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	TACR3 CL E G H	6870	11528	ORPHA:478	Kallmann syndrome			34
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	TAF1 CL E G H	6872	11535	OMIM:300966	MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS33			21
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	TAF1 CL E G H	6872	11535	OMIM:300966	MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS33			21
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	TAF1 CL E G H	6872	11535	ORPHA:480907	X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome			21
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	TAF2 CL E G H	6873	11536	OMIM:615599	Mental retardation, autosomal recessive 40			7
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	TAF2 CL E G H	6873	11536	ORPHA:397951	Microcephaly-thin corpus callosum-intellectual disability syndrome			7
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	TAF2 CL E G H	6873	11536	ORPHA:397951	Microcephaly-thin corpus callosum-intellectual disability syndrome			7
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	TANGO2 CL E G H	128989	25439	ORPHA:480864	Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome			12
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	TANGO2 CL E G H	128989	25439	ORPHA:480864	Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome			12
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	TAOK1 CL E G H	57551	29259	OMIM:619575	DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES; DDIB
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	TAOK1 CL E G H	57551	29259	OMIM:619575	DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES; DDIB
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	TARDBP CL E G H	23435	11571	ORPHA:275872	Frontotemporal dementia with motor neuron disease			65
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	TARS1 CL E G H	6897	11572	ORPHA:33364	Trichothiodystrophy
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	TARS1 CL E G H	6897	11572	ORPHA:33364	Trichothiodystrophy
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	TASP1 CL E G H	55617	15859	OMIM:618950	SULEIMAN-EL-HATTAB SYNDROME; SULEHS
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	TAT CL E G H	6898	11573	ORPHA:28378	Tyrosinemia type 2			43
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	TBC1D23 CL E G H	55773	25622	OMIM:617695	Pontocerebellar hypoplasia, type 11
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	TBC1D24 CL E G H	57465	29203	ORPHA:79500	DOORS syndrome			271
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	TBC1D24 CL E G H	57465	29203	ORPHA:79500	DOORS syndrome			271
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	TBC1D24 CL E G H	57465	29203	OMIM:608105	Epilepsy, rolandic, with paroxysmal exercise-induced dystonia and writer's cramp			271
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	TBC1D24 CL E G H	57465	29203	ORPHA:163727	Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome			271
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	TBC1D2B CL E G H	23102	29183	ORPHA:397973	Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome
HP:0000496	HP:0000617	Abnormality of ocular smooth pursuit	1	TBCD CL E G H	6904	11581	ORPHA:496641	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome			16
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	TBCD CL E G H	6904	11581	OMIM:617193	ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM; PEBAT			16
HP:0000496	HP:0000617	Abnormality of ocular smooth pursuit	1	TBCD CL E G H	6904	11581	OMIM:617193	ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM; PEBAT			16
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	TBCD CL E G H	6904	11581	OMIM:617193	ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM; PEBAT			16
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	TBCK CL E G H	93627	28261	ORPHA:488632	TBCK-related intellectual disability syndrome			13
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	TBCK CL E G H	93627	28261	ORPHA:488632	TBCK-related intellectual disability syndrome	HP:0040284 - Very rare		13
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	TBK1 CL E G H	29110	11584	ORPHA:275872	Frontotemporal dementia with motor neuron disease			20
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	TBL1XR1 CL E G H	79718	29529	OMIM:602342	Pierpont syndrome			22
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	TBL1XR1 CL E G H	79718	29529	ORPHA:487825	Pierpont syndrome			22
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	TBL1XR1 CL E G H	79718	29529	OMIM:602342	Pierpont syndrome			22
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	TBL1XR1 CL E G H	79718	29529	ORPHA:487825	Pierpont syndrome			22
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome
HP:0000496	HP:0000617	Abnormality of ocular smooth pursuit	1	TBP CL E G H	6908	11588	OMIM:607136	Spinocerebellar ataxia 17			7
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	TBP CL E G H	6908	11588	OMIM:607136	Spinocerebellar ataxia 17			7
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome			32
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	TBX1 CL E G H	6899	11592	OMIM:188400	Digeorge syndrome			32
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	TBX15 CL E G H	6913	11594	ORPHA:93333	Pelviscapular dysplasia			5
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	TBX4 CL E G H	9496	11603	ORPHA:261279	17q23.1q23.2 microdeletion syndrome			55
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	TCF12 CL E G H	6938	11623	OMIM:615314	Craniosynostosis 3			28
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	TCF20 CL E G H	6942	11631	OMIM:618430	Developmental delay with variable intellectual impairment and behavioral abnormalities			1
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	TCF4 CL E G H	6925	11634	OMIM:610954	Pitt-Hopkins syndrome			241
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	TCF4 CL E G H	6925	11634	ORPHA:2896	Pitt-Hopkins syndrome			241
HP:0000496	HP:0000570	Abnormal saccadic eye movements	1	TCIRG1 CL E G H	10312	11647	ORPHA:667	Autosomal recessive malignant osteopetrosis			82
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	TCIRG1 CL E G H	10312	11647	ORPHA:667	Autosomal recessive malignant osteopetrosis			82
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	TCIRG1 CL E G H	10312	11647	ORPHA:1782	Dysosteosclerosis			82
HP:0000496	HP:0000597	Ophthalmoparesis	1	TCIRG1 CL E G H	10312	11647	OMIM:259700	Osteopetrosis, autosomal recessive 1	.		82
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	TCIRG1 CL E G H	10312	11647	OMIM:259700	Osteopetrosis, autosomal recessive 1			82
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	TCOF1 CL E G H	6949	11654	OMIM:154500	Treacher collins-franceschetti syndrome			140
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	TCOF1 CL E G H	6949	11654	ORPHA:861	Treacher-Collins syndrome			140
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	TCTN1 CL E G H	79600	26113	ORPHA:475	Joubert syndrome			45
HP:0000496	HP:0000657	Oculomotor apraxia	1	TCTN1 CL E G H	79600	26113	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent		45
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	TCTN1 CL E G H	79600	26113	ORPHA:475	Joubert syndrome			45
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	TCTN2 CL E G H	79867	25774	ORPHA:475	Joubert syndrome			76
HP:0000496	HP:0000657	Oculomotor apraxia	1	TCTN2 CL E G H	79867	25774	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent		76
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	TCTN2 CL E G H	79867	25774	ORPHA:475	Joubert syndrome			76
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	TCTN2 CL E G H	79867	25774	OMIM:616654	Joubert syndrome 24			76
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	TCTN3 CL E G H	26123	24519	ORPHA:2754	Orofaciodigital syndrome type 6			31
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	TCTN3 CL E G H	26123	24519	ORPHA:2754	Orofaciodigital syndrome type 6			31
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	TDGF1 CL E G H	6997	11701	ORPHA:280200	Microform holoprosencephaly			1
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	TDP1 CL E G H	55775	18884	ORPHA:94124	Spinocerebellar ataxia with axonal neuropathy type 1			52
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	TELO2 CL E G H	9894	29099	ORPHA:488642	TELO2-related intellectual disability-neurodevelopmental disorder			12
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	TELO2 CL E G H	9894	29099	ORPHA:488642	TELO2-related intellectual disability-neurodevelopmental disorder			12
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	TENM3 CL E G H	55714	29944	OMIM:615145	Microphthalmia, isolated, with coloboma 9			12
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	TENM3 CL E G H	55714	29944	OMIM:615145	Microphthalmia, isolated, with coloboma 9			12
HP:0000496	HP:0000597	Ophthalmoparesis	1	TERT CL E G H	7015	11730	ORPHA:2495	Meningioma			238
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	TET3 CL E G H	200424	28313	OMIM:618798	BECK-FAHRNER SYNDROME; BEFAHRS
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	TET3 CL E G H	200424	28313	OMIM:618798	BECK-FAHRNER SYNDROME; BEFAHRS
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	TFAP2A CL E G H	7020	11742	ORPHA:1297	Branchio-oculo-facial syndrome			12
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	TFAP2A CL E G H	7020	11742	OMIM:113620	Branchiooculofacial syndrome			12
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	TFAP2A CL E G H	7020	11742	OMIM:113620	Branchiooculofacial syndrome			12
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	TFAP2B CL E G H	7021	11743	ORPHA:46627	Char syndrome			104
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	TFAP2B CL E G H	7021	11743	OMIM:169100	Char syndrome			104
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	TFE3 CL E G H	7030	11752	OMIM:301066	INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES; MRXSPF
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	TGFBI CL E G H	7045	11771	OMIM:608470	Corneal dystrophy, Reis-Bucklers type			58
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	TGFBI CL E G H	7045	11771	OMIM:121900	Groenouw type I corneal dystrophy			58
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	TGFBR1 CL E G H	7046	11772	OMIM:609192	Loeys-Dietz syndrome 1			239
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	TGFBR2 CL E G H	7048	11773	OMIM:610168	Loeys-Dietz syndrome 2			253
HP:0000496	HP:0000597	Ophthalmoparesis	1	TGFBR3 CL E G H	7049	11774	ORPHA:231160	Familial cerebral saccular aneurysm			1
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	TGIF1 CL E G H	7050	11776	ORPHA:280200	Microform holoprosencephaly			32
HP:0000496	HP:0000570	Abnormal saccadic eye movements	1	TGM6 CL E G H	343641	16255	OMIM:613908	Spinocerebellar ataxia 35			58
HP:0000496	HP:0000570	Abnormal saccadic eye movements	1	TGM6 CL E G H	343641	16255	ORPHA:276193	Spinocerebellar ataxia type 35			58
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	THG1L CL E G H	54974	26053	OMIM:618800	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 28; SCAR28
HP:0000496	HP:0000617	Abnormality of ocular smooth pursuit	1	THG1L CL E G H	54974	26053	OMIM:618800	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 28; SCAR28
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	THG1L CL E G H	54974	26053	OMIM:618800	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 28; SCAR28
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	THOC2 CL E G H	57187	19073	OMIM:300957	Mental retardation, X-linked 12/35			5
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	THOC2 CL E G H	57187	19073	OMIM:300957	Mental retardation, X-linked 12/35			5
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	THOC2 CL E G H	57187	19073	ORPHA:457240	X-linked intellectual disability-short stature-overweight syndrome			5
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	THOC2 CL E G H	57187	19073	ORPHA:457240	X-linked intellectual disability-short stature-overweight syndrome			5
HP:0000496	HP:0000597	Ophthalmoparesis	1	THSD1 CL E G H	55901	17754	ORPHA:231160	Familial cerebral saccular aneurysm			2
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	TIMM50 CL E G H	92609	23656	OMIM:617698	3-methylglutaconic aciduria, type IX			1
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	TIMMDC1 CL E G H	51300	1321	ORPHA:2609	Isolated complex I deficiency			1
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	TIMMDC1 CL E G H	51300	1321	ORPHA:2609	Isolated complex I deficiency			1
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	TIMMDC1 CL E G H	51300	1321	OMIM:618251	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 31; MC1DN31			1
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	TINF2 CL E G H	26277	11824	OMIM:268130	Revesz syndrome			60
HP:0000496	HP:0000597	Ophthalmoparesis	1	TK2 CL E G H	7084	11831	ORPHA:254886	Autosomal recessive progressive external ophthalmoplegia			103
HP:0000496	HP:0000597	Ophthalmoparesis	1	TK2 CL E G H	7084	11831	ORPHA:254875	Mitochondrial DNA depletion syndrome, myopathic form	HP:0040283 - Occasional		103
HP:0000496	HP:0000597	Ophthalmoparesis	1	TK2 CL E G H	7084	11831	OMIM:617069	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3			103
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	TKFC CL E G H	26007	24552	ORPHA:1369	Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	TKFC CL E G H	26007	24552	ORPHA:1369	Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	TKT CL E G H	7086	11834	OMIM:617044	Short stature, developmental delay, and congenital heart defects			4
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	TLK2 CL E G H	11011	11842	OMIM:618050	Mental retardation, autosomal dominant 57			1
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	TMCO1 CL E G H	54499	18188	ORPHA:1394	Cerebrofaciothoracic dysplasia			6
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	TMCO1 CL E G H	54499	18188	OMIM:213980	Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome			6
HP:0000496	HP:0000617	Abnormality of ocular smooth pursuit	1	TMEM106B CL E G H	54664	22407	OMIM:617964	Leukodystrophy, hypomyelinating, 16
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	TMEM106B CL E G H	54664	22407	OMIM:617964	Leukodystrophy, hypomyelinating, 16
HP:0000496	HP:0000657	Oculomotor apraxia	1	TMEM107 CL E G H	84314	28128	OMIM:617562	Meckel syndrome 13	.		4
HP:0000496	HP:0000657	Oculomotor apraxia	1	TMEM107 CL E G H	84314	28128	OMIM:617563	Orofaciodigital syndrome XVI	.		4
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	TMEM126A CL E G H	84233	25382	OMIM:612989	Optic atrophy 7 with or without auditory neuropathy			23
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	TMEM126A CL E G H	84233	25382	OMIM:612989	Optic atrophy 7 with or without auditory neuropathy			23
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	TMEM126B CL E G H	55863	30883	ORPHA:2609	Isolated complex I deficiency			4
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	TMEM126B CL E G H	55863	30883	ORPHA:2609	Isolated complex I deficiency			4
HP:0000496	HP:0000657	Oculomotor apraxia	1	TMEM138 CL E G H	51524	26944	OMIM:614465	JOUBERT SYNDROME 16; JBTS16			39
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	TMEM138 CL E G H	51524	26944	ORPHA:2318	Joubert syndrome with oculorenal defect			39
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	TMEM138 CL E G H	51524	26944	ORPHA:2318	Joubert syndrome with oculorenal defect			39
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	TMEM216 CL E G H	51259	25018	OMIM:608091	Joubert syndrome 2			45
HP:0000496	HP:0000570	Abnormal saccadic eye movements	1	TMEM216 CL E G H	51259	25018	OMIM:608091	Joubert syndrome 2	.		45
HP:0000496	HP:0000617	Abnormality of ocular smooth pursuit	1	TMEM216 CL E G H	51259	25018	OMIM:608091	Joubert syndrome 2	.		45
HP:0000496	HP:0000657	Oculomotor apraxia	1	TMEM216 CL E G H	51259	25018	OMIM:608091	Joubert syndrome 2	.		45
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	TMEM216 CL E G H	51259	25018	OMIM:608091	Joubert syndrome 2			45
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	TMEM216 CL E G H	51259	25018	ORPHA:2318	Joubert syndrome with oculorenal defect			45
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	TMEM216 CL E G H	51259	25018	ORPHA:2318	Joubert syndrome with oculorenal defect			45
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	TMEM216 CL E G H	51259	25018	ORPHA:2754	Orofaciodigital syndrome type 6			45
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	TMEM216 CL E G H	51259	25018	ORPHA:2754	Orofaciodigital syndrome type 6			45
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	TMEM218 CL E G H	219854	27344	ORPHA:475	Joubert syndrome
HP:0000496	HP:0000657	Oculomotor apraxia	1	TMEM218 CL E G H	219854	27344	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	TMEM218 CL E G H	219854	27344	ORPHA:475	Joubert syndrome
HP:0000496	HP:0000657	Oculomotor apraxia	1	TMEM218 CL E G H	219854	27344	OMIM:619562	JOUBERT SYNDROME 39; JBTS39
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	TMEM222 CL E G H	84065	25363	OMIM:619470	NEURODEVELOPMENTAL DISORDER WITH MOTOR AND SPEECH DELAY AND BEHAVIORAL ABNORMALITIES; NEDMOSBA
HP:0000496	HP:0000657	Oculomotor apraxia	1	TMEM231 CL E G H	79583	37234	OMIM:614970	Joubert syndrome 20	HP:0040280 - Obligate		33
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	TMEM231 CL E G H	79583	37234	ORPHA:2318	Joubert syndrome with oculorenal defect			33
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	TMEM231 CL E G H	79583	37234	ORPHA:2318	Joubert syndrome with oculorenal defect			33
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	TMEM231 CL E G H	79583	37234	ORPHA:2752	Orofaciodigital syndrome type 3			33
HP:0000496	HP:0000657	Oculomotor apraxia	1	TMEM231 CL E G H	79583	37234	ORPHA:2752	Orofaciodigital syndrome type 3	HP:0040282 - Frequent		33
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	TMEM231 CL E G H	79583	37234	ORPHA:2752	Orofaciodigital syndrome type 3	HP:0040282 - Frequent		33
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	TMEM237 CL E G H	65062	14432	ORPHA:475	Joubert syndrome			82
HP:0000496	HP:0000657	Oculomotor apraxia	1	TMEM237 CL E G H	65062	14432	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent		82
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	TMEM237 CL E G H	65062	14432	ORPHA:475	Joubert syndrome			82
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	TMEM237 CL E G H	65062	14432	OMIM:614424	Joubert syndrome 14			82
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	TMEM237 CL E G H	65062	14432	OMIM:614424	Joubert syndrome 14			82
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	TMEM237 CL E G H	65062	14432	ORPHA:2318	Joubert syndrome with oculorenal defect			82
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	TMEM237 CL E G H	65062	14432	ORPHA:2318	Joubert syndrome with oculorenal defect			82
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	TMEM237 CL E G H	65062	14432	ORPHA:220497	Joubert syndrome with renal defect			82
HP:0000496	HP:0000657	Oculomotor apraxia	1	TMEM237 CL E G H	65062	14432	ORPHA:220497	Joubert syndrome with renal defect	HP:0040281 - Very frequent		82
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	TMEM237 CL E G H	65062	14432	ORPHA:220497	Joubert syndrome with renal defect			82
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	TMEM240 CL E G H	339453	25186	OMIM:607454	Spinocerebellar ataxia 21			9
HP:0000496	HP:0000570	Abnormal saccadic eye movements	1	TMEM240 CL E G H	339453	25186	OMIM:607454	Spinocerebellar ataxia 21			9
HP:0000496	HP:0000617	Abnormality of ocular smooth pursuit	1	TMEM240 CL E G H	339453	25186	OMIM:607454	Spinocerebellar ataxia 21			9
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	TMEM240 CL E G H	339453	25186	OMIM:607454	Spinocerebellar ataxia 21			9
HP:0000496	HP:0000617	Abnormality of ocular smooth pursuit	1	TMEM240 CL E G H	339453	25186	ORPHA:98773	Spinocerebellar ataxia type 21			9
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	TMEM240 CL E G H	339453	25186	ORPHA:98773	Spinocerebellar ataxia type 21			9
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	TMEM53 CL E G H	79639	26186	OMIM:619727	CRANIOTUBULAR DYSPLASIA, IKEGAWA TYPE; CTDI
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	TMEM63A CL E G H	9725	29118	OMIM:618688	LEUKODYSTROPHY, HYPOMYELINATING, 19, TRANSIENT INFANTILE; HLD19
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	TMEM63C CL E G H	57156	23787	OMIM:619966
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	TMEM63C CL E G H	57156	23787	OMIM:619966
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	TMEM67 CL E G H	91147	28396	OMIM:615991	Bardet-Biedl syndrome 14			166
HP:0000496	HP:0000657	Oculomotor apraxia	1	TMEM67 CL E G H	91147	28396	OMIM:216360	Coach syndrome 1			166
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	TMEM67 CL E G H	91147	28396	OMIM:216360	Coach syndrome 1			166
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	TMEM67 CL E G H	91147	28396	ORPHA:475	Joubert syndrome			166
HP:0000496	HP:0000657	Oculomotor apraxia	1	TMEM67 CL E G H	91147	28396	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent		166
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	TMEM67 CL E G H	91147	28396	ORPHA:475	Joubert syndrome			166
HP:0000496	HP:0000657	Oculomotor apraxia	1	TMEM67 CL E G H	91147	28396	OMIM:610688	Joubert syndrome 6	.		166
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	TMEM67 CL E G H	91147	28396	ORPHA:1454	Joubert syndrome with hepatic defect			166
HP:0000496	HP:0000657	Oculomotor apraxia	1	TMEM67 CL E G H	91147	28396	ORPHA:1454	Joubert syndrome with hepatic defect	HP:0040281 - Very frequent		166
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	TMEM67 CL E G H	91147	28396	ORPHA:1454	Joubert syndrome with hepatic defect			166
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	TMEM67 CL E G H	91147	28396	OMIM:613550	NEPHRONOPHTHISIS 11; NPHP11			166
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	TMEM67 CL E G H	91147	28396	OMIM:613550	NEPHRONOPHTHISIS 11; NPHP11			166
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	TMEM67 CL E G H	91147	28396	OMIM:602152	Rhyns syndrome			166
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	TMEM94 CL E G H	9772	28983	OMIM:618316	Intellectual developmental disorder with cardiac defects and dysmorphic facies			1
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	TMEM98 CL E G H	26022	24529	ORPHA:35612	Nanophthalmos			3
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	TNFRSF11A CL E G H	8792	11908	ORPHA:1782	Dysosteosclerosis			72
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	TNFRSF11A CL E G H	8792	11908	OMIM:612301	OSTEOPETROSIS, AUTOSOMAL RECESSIVE 7; OPTB7			72
HP:0000496	HP:0000570	Abnormal saccadic eye movements	1	TNFSF11 CL E G H	8600	11926	ORPHA:667	Autosomal recessive malignant osteopetrosis			44
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	TNFSF11 CL E G H	8600	11926	ORPHA:667	Autosomal recessive malignant osteopetrosis			44
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	TNFSF11 CL E G H	8600	11926	OMIM:259710	Osteopetrosis, autosomal recessive 2			44
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	TNPO2 CL E G H	30000	19998	OMIM:619556	INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA, IMPAIRED SPEECH, AND DYSMORPHIC FACIES; IDDHISD
HP:0000496	HP:0000570	Abnormal saccadic eye movements	1	TNR CL E G H	7143	11953	OMIM:619653	NEURODEVELOPMENTAL DISORDER, NONPROGRESSIVE, WITH SPASTICITY AND TRANSIENT OPISTHOTONUS; NEDSTO			7
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	TOE1 CL E G H	114034	15954	ORPHA:284339	Pontocerebellar hypoplasia type 7			6
HP:0000496	HP:0000657	Oculomotor apraxia	1	TOE1 CL E G H	114034	15954	OMIM:614969	Pontocerebellar hypoplasia, type 7	.		6
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	TOE1 CL E G H	114034	15954	OMIM:614969	Pontocerebellar hypoplasia, type 7			6
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	TOGARAM1 CL E G H	23116	19959	ORPHA:475	Joubert syndrome
HP:0000496	HP:0000657	Oculomotor apraxia	1	TOGARAM1 CL E G H	23116	19959	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	TOGARAM1 CL E G H	23116	19959	ORPHA:475	Joubert syndrome
HP:0000496	HP:0000657	Oculomotor apraxia	1	TOGARAM1 CL E G H	23116	19959	OMIM:619185	JOUBERT SYNDROME 37; JBTS37
HP:0000496	HP:0025186	Marcus Gunn jaw winking synkinesis	1	TOGARAM1 CL E G H	23116	19959	OMIM:619185	JOUBERT SYNDROME 37; JBTS37
HP:0000496	HP:0000657	Oculomotor apraxia	1	TOMM40 CL E G H	10452	18001	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease	HP:0040283 - Occasional
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	TONSL CL E G H	4796	7801	ORPHA:93357	SPONASTRIME dysplasia
HP:0000496	HP:0000597	Ophthalmoparesis	1	TOP3A CL E G H	7156	11992	OMIM:618098	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	TOPORS CL E G H	10210	21653	ORPHA:2754	Orofaciodigital syndrome type 6			61
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	TOPORS CL E G H	10210	21653	ORPHA:2754	Orofaciodigital syndrome type 6			61
HP:0000496	HP:0000597	Ophthalmoparesis	1	TOPORS CL E G H	10210	21653	ORPHA:791	Retinitis pigmentosa			61
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	TOPORS CL E G H	10210	21653	ORPHA:791	Retinitis pigmentosa			61
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	TOR1A CL E G H	1861	3098	OMIM:618947	ARTHROGRYPOSIS MULTIPLEX CONGENITA 5; AMC5			47
HP:0000496	HP:0000597	Ophthalmoparesis	1	TPK1 CL E G H	27010	17358	OMIM:614458	Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type)			21
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	TPK1 CL E G H	27010	17358	OMIM:614458	Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type)			21
HP:0000496	HP:0000597	Ophthalmoparesis	1	TPM2 CL E G H	7169	12011	ORPHA:2020	Congenital fiber-type disproportion myopathy			54
HP:0000496	HP:0000597	Ophthalmoparesis	1	TPM2 CL E G H	7169	12011	OMIM:255310	Myopathy, congenital, with fiber-type disproportion			54
HP:0000496	HP:0000597	Ophthalmoparesis	1	TPM3 CL E G H	7170	12012	ORPHA:2020	Congenital fiber-type disproportion myopathy			108
HP:0000496	HP:0000597	Ophthalmoparesis	1	TPM3 CL E G H	7170	12012	ORPHA:171433	Intermediate nemaline myopathy			108
HP:0000496	HP:0000597	Ophthalmoparesis	1	TPM3 CL E G H	7170	12012	OMIM:255310	Myopathy, congenital, with fiber-type disproportion			108
HP:0000496	HP:0000570	Abnormal saccadic eye movements	1	TPP1 CL E G H	1200	2073	ORPHA:284324	Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia			203
HP:0000496	HP:0000617	Abnormality of ocular smooth pursuit	1	TPP1 CL E G H	1200	2073	ORPHA:284324	Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia			203
HP:0000496	HP:0000657	Oculomotor apraxia	1	TPP1 CL E G H	1200	2073	ORPHA:284324	Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia	HP:0040282 - Frequent		203
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	TPP1 CL E G H	1200	2073	ORPHA:284324	Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia			203
HP:0000496	HP:0000570	Abnormal saccadic eye movements	1	TPP1 CL E G H	1200	2073	OMIM:609270	Spinocerebellar ataxia, autosomal recessive 7			203
HP:0000496	HP:0000617	Abnormality of ocular smooth pursuit	1	TPP1 CL E G H	1200	2073	OMIM:609270	Spinocerebellar ataxia, autosomal recessive 7			203
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	TPP1 CL E G H	1200	2073	OMIM:609270	Spinocerebellar ataxia, autosomal recessive 7			203
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	TRAF3IP1 CL E G H	26146	17861	OMIM:616629	Senior-Loken syndrome 9			6
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	TRAF3IP1 CL E G H	26146	17861	OMIM:616629	Senior-Loken syndrome 9			6
HP:0000496	HP:0000597	Ophthalmoparesis	1	TRAF7 CL E G H	84231	20456	ORPHA:2495	Meningioma
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	TRAK1 CL E G H	22906	29947	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040284 - Very rare
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	TRAPPC11 CL E G H	60684	25751	ORPHA:369847	Intellectual disability-hyperkinetic movement-truncal ataxia syndrome			27
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	TRAPPC11 CL E G H	60684	25751	OMIM:615356	Muscular dystrophy, limb-girdle, autosomal recessive 18			27
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	TRAPPC11 CL E G H	60684	25751	ORPHA:369840	TRAPPC11-related limb-girdle muscular dystrophy R18			27
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	TRAPPC6B CL E G H	122553	23066	OMIM:617862	Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	TRAPPC6B CL E G H	122553	23066	OMIM:617862	Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy
HP:0000496	HP:0000657	Oculomotor apraxia	1	TREM2 CL E G H	54209	17761	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease	HP:0040283 - Occasional		31
HP:0000496	HP:0000657	Oculomotor apraxia	1	TREM2 CL E G H	54209	17761	ORPHA:2770	Nasu-Hakola disease	HP:0040282 - Frequent		31
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	TREX1 CL E G H	11277	12269	ORPHA:51	Aicardi-Goutières syndrome			56
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	TREX1 CL E G H	11277	12269	OMIM:225750	Aicardi-Goutieres syndrome 1			56
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	TREX1 CL E G H	11277	12269	OMIM:225750	Aicardi-Goutieres syndrome 1			56
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	TRIM32 CL E G H	22954	16380	ORPHA:110	Bardet-Biedl syndrome			108
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	TRIM37 CL E G H	4591	7523	OMIM:253250	Mulibrey nanism			78
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	TRIM44 CL E G H	54765	19016	ORPHA:250923	Isolated aniridia			1
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	TRIM8 CL E G H	81603	15579	ORPHA:1934	Early infantile epileptic encephalopathy			1
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	TRIO CL E G H	7204	12303	ORPHA:476126	Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome			8
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	TRIP11 CL E G H	9321	12305	ORPHA:166272	Odontochondrodysplasia			133
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	TRIP12 CL E G H	9320	12306	OMIM:617752	Mental retardation, autosomal dominant 49			2
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	TRIP13 CL E G H	9319	12307	OMIM:617598	Mosaic variegated aneuploidy syndrome 3			2
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	TRIT1 CL E G H	54802	20286	OMIM:617873	Combined oxidative phosphorylation deficiency 35			12
HP:0000496	HP:0000597	Ophthalmoparesis	1	TRNC CL E G H	4511	7477	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0000496	HP:0000597	Ophthalmoparesis	1	TRNE CL E G H	4556	7479	ORPHA:225	Maternally-inherited diabetes and deafness
HP:0000496	HP:0000597	Ophthalmoparesis	1	TRNF CL E G H	4558	7481	ORPHA:550	MELAS
HP:0000496	HP:0000597	Ophthalmoparesis	1	TRNF CL E G H	4558	7481	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0000496	HP:0000597	Ophthalmoparesis	1	TRNH CL E G H	4564	7487	ORPHA:550	MELAS
HP:0000496	HP:0000597	Ophthalmoparesis	1	TRNK CL E G H	4566	7489	ORPHA:225	Maternally-inherited diabetes and deafness
HP:0000496	HP:0000597	Ophthalmoparesis	1	TRNK CL E G H	4566	7489	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040282 - Frequent
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	TRNK CL E G H	4566	7489	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0000496	HP:0000597	Ophthalmoparesis	1	TRNK CL E G H	4566	7489	ORPHA:1349	Mitochondrial DNA-related cardiomyopathy and hearing loss	HP:0040282 - Frequent
HP:0000496	HP:0000597	Ophthalmoparesis	1	TRNK CL E G H	4566	7489	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0000496	HP:0000597	Ophthalmoparesis	1	TRNL1 CL E G H	4567	7490	ORPHA:480	Kearns-Sayre syndrome
HP:0000496	HP:0000597	Ophthalmoparesis	1	TRNL1 CL E G H	4567	7490	ORPHA:225	Maternally-inherited diabetes and deafness
HP:0000496	HP:0000597	Ophthalmoparesis	1	TRNL1 CL E G H	4567	7490	ORPHA:550	MELAS
HP:0000496	HP:0000597	Ophthalmoparesis	1	TRNL1 CL E G H	4567	7490	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040282 - Frequent
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	TRNL1 CL E G H	4567	7490	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0000496	HP:0000597	Ophthalmoparesis	1	TRNL1 CL E G H	4567	7490	ORPHA:663	Mitochondrial DNA-related progressive external ophthalmoplegia
HP:0000496	HP:0000597	Ophthalmoparesis	1	TRNL1 CL E G H	4567	7490	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0000496	HP:0000597	Ophthalmoparesis	1	TRNL2 CL E G H	4568	7491	ORPHA:663	Mitochondrial DNA-related progressive external ophthalmoplegia
HP:0000496	HP:0000597	Ophthalmoparesis	1	TRNN CL E G H	4570	7493	OMIM:220110	Mitochondrial complex IV deficiency
HP:0000496	HP:0000597	Ophthalmoparesis	1	TRNN CL E G H	4570	7493	ORPHA:663	Mitochondrial DNA-related progressive external ophthalmoplegia
HP:0000496	HP:0000597	Ophthalmoparesis	1	TRNQ CL E G H	4572	7495	ORPHA:550	MELAS
HP:0000496	HP:0000597	Ophthalmoparesis	1	TRNQ CL E G H	4572	7495	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0000496	HP:0000597	Ophthalmoparesis	1	TRNS1 CL E G H	4574	7497	ORPHA:550	MELAS
HP:0000496	HP:0000597	Ophthalmoparesis	1	TRNS1 CL E G H	4574	7497	OMIM:220110	Mitochondrial complex IV deficiency
HP:0000496	HP:0000597	Ophthalmoparesis	1	TRNS1 CL E G H	4574	7497	ORPHA:663	Mitochondrial DNA-related progressive external ophthalmoplegia
HP:0000496	HP:0000597	Ophthalmoparesis	1	TRNS1 CL E G H	4574	7497	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0000496	HP:0000597	Ophthalmoparesis	1	TRNS2 CL E G H	4575	7498	ORPHA:550	MELAS
HP:0000496	HP:0000597	Ophthalmoparesis	1	TRNS2 CL E G H	4575	7498	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0000496	HP:0000597	Ophthalmoparesis	1	TRNT CL E G H	4576	7499	ORPHA:254857	Lethal infantile mitochondrial myopathy
HP:0000496	HP:0000597	Ophthalmoparesis	1	TRNV CL E G H	4577	7500	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040282 - Frequent
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	TRNV CL E G H	4577	7500	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0000496	HP:0000597	Ophthalmoparesis	1	TRNV CL E G H	4577	7500	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0000496	HP:0000597	Ophthalmoparesis	1	TRNW CL E G H	4578	7501	ORPHA:550	MELAS
HP:0000496	HP:0000597	Ophthalmoparesis	1	TRNW CL E G H	4578	7501	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040282 - Frequent
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	TRNW CL E G H	4578	7501	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0000496	HP:0000597	Ophthalmoparesis	1	TRNW CL E G H	4578	7501	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	TRPM1 CL E G H	4308	7146	ORPHA:215	Congenital stationary night blindness			104
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	TRPM1 CL E G H	4308	7146	ORPHA:215	Congenital stationary night blindness			104
HP:0000496	HP:0031705	Compensatory head posture	1	TRPM1 CL E G H	4308	7146	ORPHA:215	Congenital stationary night blindness	HP:0040283 - Occasional		104
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	TRPM1 CL E G H	4308	7146	OMIM:613216	NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1C; CSNB1C			104
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	TRPM1 CL E G H	4308	7146	OMIM:613216	NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1C; CSNB1C			104
HP:0000496	HP:0000597	Ophthalmoparesis	1	TRPV4 CL E G H	59341	18083	OMIM:606071	Hereditary motor and sensory neuropathy, type IIC			214
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	TSEN15 CL E G H	116461	16791	OMIM:617026	Pontocerebellar hypoplasia, type 2F			3
HP:0000496	HP:0000617	Abnormality of ocular smooth pursuit	1	TSEN54 CL E G H	283989	27561	OMIM:277470	Pontocerebellar hypoplasia, type 2A			102
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	TSPAN7 CL E G H	7102	11854	OMIM:300210	MENTAL RETARDATION, X-LINKED 58; MRX58			26
HP:0000496	HP:0000597	Ophthalmoparesis	1	TSPYL1 CL E G H	7259	12382	ORPHA:168593	Sudden infant death-dysgenesis of the testes syndrome			1
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	TSR2 CL E G H	90121	25455	ORPHA:124	Blackfan-Diamond anemia			1
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	TTBK2 CL E G H	146057	19141	OMIM:604432	Spinocerebellar ataxia 11			57
HP:0000496	HP:0000617	Abnormality of ocular smooth pursuit	1	TTBK2 CL E G H	146057	19141	ORPHA:98767	Spinocerebellar ataxia type 11			57
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	TTBK2 CL E G H	146057	19141	ORPHA:98767	Spinocerebellar ataxia type 11			57
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	TTC19 CL E G H	54902	26006	OMIM:615157	Mitochondrial complex III deficiency, nuclear type 2			88
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	TTC8 CL E G H	123016	20087	ORPHA:110	Bardet-Biedl syndrome			41
HP:0000496	HP:0000597	Ophthalmoparesis	1	TTC8 CL E G H	123016	20087	ORPHA:791	Retinitis pigmentosa			41
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	TTC8 CL E G H	123016	20087	ORPHA:791	Retinitis pigmentosa			41
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	TTI2 CL E G H	80185	26262	OMIM:615541	Mental retardation, autosomal recessive 39			11
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	TTI2 CL E G H	80185	26262	ORPHA:391307	Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome			11
HP:0000496	HP:0000597	Ophthalmoparesis	1	TTN CL E G H	7273	12403	ORPHA:169186	Autosomal recessive centronuclear myopathy	HP:0040283 - Occasional		7128
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	TTPA CL E G H	7274	12404	ORPHA:96	Ataxia with vitamin E deficiency			62
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	TTR CL E G H	7276	12405	OMIM:105210	Amyloidosis, hereditary, transthyretin-related			107
HP:0000496	HP:0000597	Ophthalmoparesis	1	TUB CL E G H	7275	12406	ORPHA:791	Retinitis pigmentosa			1
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	TUB CL E G H	7275	12406	ORPHA:791	Retinitis pigmentosa			1
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	TUBA1A CL E G H	7846	20766	ORPHA:171680	Lissencephaly due to TUBA1A mutation			106
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	TUBA1A CL E G H	7846	20766	ORPHA:171680	Lissencephaly due to TUBA1A mutation			106
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	TUBA1A CL E G H	7846	20766	ORPHA:467166	Tubulinopathy-associated dysgyria			106
HP:0000496	HP:0000657	Oculomotor apraxia	1	TUBA1A CL E G H	7846	20766	ORPHA:467166	Tubulinopathy-associated dysgyria			106
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	TUBA1A CL E G H	7846	20766	ORPHA:467166	Tubulinopathy-associated dysgyria			106
HP:0000496	HP:0007941	Limited extraocular movements	1	TUBB2B CL E G H	347733	30829	OMIM:610031	Cortical dysplasia, complex, with other brain malformations 7	HP:0040283 - Occasional		39
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	TUBB2B CL E G H	347733	30829	ORPHA:1766	Dysequilibrium syndrome			39
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	TUBB2B CL E G H	347733	30829	ORPHA:300573	Polymicrogyria due to TUBB2B mutation			39
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	TUBB2B CL E G H	347733	30829	ORPHA:467166	Tubulinopathy-associated dysgyria			39
HP:0000496	HP:0000657	Oculomotor apraxia	1	TUBB2B CL E G H	347733	30829	ORPHA:467166	Tubulinopathy-associated dysgyria			39
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	TUBB2B CL E G H	347733	30829	ORPHA:467166	Tubulinopathy-associated dysgyria			39
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	TUBB3 CL E G H	10381	20772	ORPHA:300570	Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation			64
HP:0000496	HP:0000570	Abnormal saccadic eye movements	1	TUBB3 CL E G H	10381	20772	ORPHA:300570	Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation	HP:0040283 - Occasional		64
HP:0000496	HP:0000657	Oculomotor apraxia	1	TUBB3 CL E G H	10381	20772	ORPHA:300570	Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation	HP:0040283 - Occasional		64
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	TUBB3 CL E G H	10381	20772	ORPHA:300570	Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation			64
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	TUBB3 CL E G H	10381	20772	OMIM:614039	Cortical dysplasia, complex, with other brain malformations 1			64
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	TUBB3 CL E G H	10381	20772	OMIM:614039	Cortical dysplasia, complex, with other brain malformations 1			64
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	TUBB3 CL E G H	10381	20772	OMIM:600638	Fibrosis of extraocular muscles, congenital, 3A, with or without extraocularinvolvement			64
HP:0000496	HP:0000597	Ophthalmoparesis	1	TUBB3 CL E G H	10381	20772	OMIM:600638	Fibrosis of extraocular muscles, congenital, 3A, with or without extraocularinvolvement			64
HP:0000496	HP:0031705	Compensatory head posture	1	TUBB3 CL E G H	10381	20772	OMIM:600638	Fibrosis of extraocular muscles, congenital, 3A, with or without extraocularinvolvement			64
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	TUBB3 CL E G H	10381	20772	ORPHA:467166	Tubulinopathy-associated dysgyria			64
HP:0000496	HP:0000657	Oculomotor apraxia	1	TUBB3 CL E G H	10381	20772	ORPHA:467166	Tubulinopathy-associated dysgyria			64
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	TUBB3 CL E G H	10381	20772	ORPHA:467166	Tubulinopathy-associated dysgyria			64
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	TUBB4A CL E G H	10382	20774	OMIM:612438	Leukodystrophy, hypomyelinating, 6			66
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	TUBB4B CL E G H	10383	20771	ORPHA:65	Leber congenital amaurosis
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	TUBB4B CL E G H	10383	20771	OMIM:617879	Leber congenital amaurosis with early-onset deafness
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	TUBGCP4 CL E G H	27229	16691	ORPHA:2518	Autosomal recessive chorioretinopathy-microcephaly syndrome			14
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	TUBGCP4 CL E G H	27229	16691	ORPHA:2518	Autosomal recessive chorioretinopathy-microcephaly syndrome			14
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	TUBGCP4 CL E G H	27229	16691	OMIM:616335	Microcephaly and chorioretinopathy, autosomal recessive, 3			14
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	TUBGCP6 CL E G H	85378	18127	ORPHA:2518	Autosomal recessive chorioretinopathy-microcephaly syndrome			61
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	TUBGCP6 CL E G H	85378	18127	ORPHA:2518	Autosomal recessive chorioretinopathy-microcephaly syndrome			61
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	TUBGCP6 CL E G H	85378	18127	OMIM:251270	Microcephaly and chorioretinopathy, autosomal recessive, 1			61
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	TUFM CL E G H	7284	12420	OMIM:610678	Combined oxidative phosphorylation deficiency 4			55
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	TULP1 CL E G H	7287	12423	ORPHA:65	Leber congenital amaurosis			66
HP:0000496	HP:0000617	Abnormality of ocular smooth pursuit	1	TULP1 CL E G H	7287	12423	OMIM:613843	Leber congenital amaurosis 15			66
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	TULP1 CL E G H	7287	12423	OMIM:613843	Leber congenital amaurosis 15			66
HP:0000496	HP:0000597	Ophthalmoparesis	1	TULP1 CL E G H	7287	12423	ORPHA:791	Retinitis pigmentosa			66
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	TULP1 CL E G H	7287	12423	ORPHA:791	Retinitis pigmentosa			66
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	TULP1 CL E G H	7287	12423	OMIM:600132	RETINITIS PIGMENTOSA 14; RP14			66
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	TWIST1 CL E G H	7291	12428	OMIM:180750	Robinow-Sorauf syndrome			18
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	TWIST1 CL E G H	7291	12428	OMIM:101400	Saethre-Chotzen syndrome			18
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	TWIST1 CL E G H	7291	12428	ORPHA:794	Saethre-Chotzen syndrome			18
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	TWIST2 CL E G H	117581	20670	ORPHA:1807	Focal facial dermal dysplasia type III			7
HP:0000496	HP:0000597	Ophthalmoparesis	1	TWNK CL E G H	56652	1160	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040282 - Frequent		113
HP:0000496	HP:0000597	Ophthalmoparesis	1	TWNK CL E G H	56652	1160	ORPHA:1186	Infantile-onset spinocerebellar ataxia			113
HP:0000496	HP:0000597	Ophthalmoparesis	1	TWNK CL E G H	56652	1160	OMIM:271245	Mitochondrial DNA depletion syndrome 7 (hepatocerebral type)			113
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	TWNK CL E G H	56652	1160	OMIM:271245	Mitochondrial DNA depletion syndrome 7 (hepatocerebral type)			113
HP:0000496	HP:0000597	Ophthalmoparesis	1	TWNK CL E G H	56652	1160	OMIM:616138	Perrault syndrome 5			113
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	TWNK CL E G H	56652	1160	OMIM:616138	Perrault syndrome 5			113
HP:0000496	HP:0000597	Ophthalmoparesis	1	TWNK CL E G H	56652	1160	OMIM:609286	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3			113
HP:0000496	HP:0000597	Ophthalmoparesis	1	TWNK CL E G H	56652	1160	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis			113
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	TWNK CL E G H	56652	1160	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis			113
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	TWNK CL E G H	56652	1160	ORPHA:70595	Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome			113
HP:0000496	HP:0000597	Ophthalmoparesis	1	TWNK CL E G H	56652	1160	ORPHA:70595	Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome	HP:0040282 - Frequent		113
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	TWNK CL E G H	56652	1160	ORPHA:70595	Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome			113
HP:0000496	HP:0000597	Ophthalmoparesis	1	TYMP CL E G H	1890	3148	OMIM:603041	Mitochondrial DNA depletion syndrome 1 (mngie type)			138
HP:0000496	HP:0000597	Ophthalmoparesis	1	TYMP CL E G H	1890	3148	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy	HP:0040282 - Frequent		138
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	TYR CL E G H	7299	12442	OMIM:203100	Albinism, oculocutaneous, type IA			146
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	TYR CL E G H	7299	12442	OMIM:203100	Albinism, oculocutaneous, type IA			146
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	TYR CL E G H	7299	12442	OMIM:606952	Albinism, oculocutaneous, type IB			146
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	TYR CL E G H	7299	12442	ORPHA:79431	Oculocutaneous albinism type 1A			146
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	TYR CL E G H	7299	12442	ORPHA:79434	Oculocutaneous albinism type 1B			146
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	TYR CL E G H	7299	12442	ORPHA:79434	Oculocutaneous albinism type 1B			146
HP:0000496	HP:0000657	Oculomotor apraxia	1	TYROBP CL E G H	7305	12449	ORPHA:2770	Nasu-Hakola disease	HP:0040282 - Frequent		22
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	TYRP1 CL E G H	7306	12450	OMIM:203290	Albinism, oculocutaneous, type III			62
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	TYRP1 CL E G H	7306	12450	OMIM:203290	Albinism, oculocutaneous, type III			62
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	TYRP1 CL E G H	7306	12450	ORPHA:79433	Oculocutaneous albinism type 3			62
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	TYRP1 CL E G H	7306	12450	ORPHA:79433	Oculocutaneous albinism type 3			62
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	UBA2 CL E G H	10054	30661	OMIM:619959
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	UBA5 CL E G H	79876	23230	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040284 - Very rare		13
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	UBA5 CL E G H	79876	23230	OMIM:617133	Spinocerebellar ataxia, autosomal recessive 24			13
HP:0000496	HP:0000570	Abnormal saccadic eye movements	1	UBAP1 CL E G H	51271	12461	OMIM:618418	Spastic paraplegia 80, autosomal dominant
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	UBAP1 CL E G H	51271	12461	OMIM:618418	Spastic paraplegia 80, autosomal dominant
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	UBE2A CL E G H	7319	12472	ORPHA:163956	X-linked intellectual disability, Nascimento type			7
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	UBE2T CL E G H	29089	25009	ORPHA:84	Fanconi anemia			2
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	UBE2T CL E G H	29089	25009	ORPHA:84	Fanconi anemia			2
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	UBE3A CL E G H	7337	12496	OMIM:105830	Angelman syndrome			278
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	UBE3A CL E G H	7337	12496	OMIM:105830	Angelman syndrome			278
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	UBE3A CL E G H	7337	12496	ORPHA:411511	Angelman syndrome due to a point mutation			278
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	UBE3A CL E G H	7337	12496	ORPHA:98794	Angelman syndrome due to maternal 15q11q13 deletion			278
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	UBE3B CL E G H	89910	13478	OMIM:244450	Kaufman oculocerebrofacial syndrome			13
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	UBE3B CL E G H	89910	13478	OMIM:244450	Kaufman oculocerebrofacial syndrome			13
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	UBE3B CL E G H	89910	13478	ORPHA:2707	Oculocerebrofacial syndrome, Kaufman type			13
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	UBE3B CL E G H	89910	13478	ORPHA:2707	Oculocerebrofacial syndrome, Kaufman type			13
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	UBE4B CL E G H	10277	12500	ORPHA:1606	1p36 deletion syndrome
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	UBE4B CL E G H	10277	12500	ORPHA:1606	1p36 deletion syndrome
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	UBR1 CL E G H	197131	16808	OMIM:243800	Johanson-Blizzard syndrome			25
HP:0000496	HP:0000597	Ophthalmoparesis	1	UCHL1 CL E G H	7345	12513	OMIM:615491	Spastic paraplegia 79, autosomal recessive			21
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	UCHL1 CL E G H	7345	12513	OMIM:615491	Spastic paraplegia 79, autosomal recessive			21
HP:0000496	HP:0000657	Oculomotor apraxia	1	UFC1 CL E G H	51506	26941	OMIM:618076	Neurodevelopmental disorder with spasticity and poor growth	.
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	UFSP2 CL E G H	55325	25640	OMIM:620028				2
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	UGP2 CL E G H	7360	12527	OMIM:618744	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 83; DEE83
HP:0000496	HP:0000597	Ophthalmoparesis	1	UGT1A1 CL E G H	54658	12530	ORPHA:79234	Crigler-Najjar syndrome type 1			73
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	UNC80 CL E G H	285175	26582	OMIM:616801	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2			23
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	UNC80 CL E G H	285175	26582	OMIM:616801	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2			23
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	UNC80 CL E G H	285175	26582	ORPHA:371364	Hypotonia-speech impairment-severe cognitive delay syndrome			23
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	UNC80 CL E G H	285175	26582	ORPHA:371364	Hypotonia-speech impairment-severe cognitive delay syndrome			23
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	UROC1 CL E G H	131669	26444	OMIM:276880	Urocanase deficiency			8
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	UROC1 CL E G H	131669	26444	ORPHA:210128	Urocanic aciduria			8
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	USH1C CL E G H	10083	12597	OMIM:276900	Usher syndrome, type I			173
HP:0000496	HP:0000597	Ophthalmoparesis	1	USH2A CL E G H	7399	12601	ORPHA:791	Retinitis pigmentosa			777
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	USH2A CL E G H	7399	12601	ORPHA:791	Retinitis pigmentosa			777
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	USH2A CL E G H	7399	12601	ORPHA:231178	Usher syndrome type 2			777
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	USP45 CL E G H	85015	20080	ORPHA:65	Leber congenital amaurosis
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	USP45 CL E G H	85015	20080	OMIM:618513	LEBER CONGENITAL AMAUROSIS 19; LCA19
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	USP7 CL E G H	7874	12630	ORPHA:500055	16p13.2 microdeletion syndrome			2
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	USP7 CL E G H	7874	12630	ORPHA:500055	16p13.2 microdeletion syndrome			2
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	USP7 CL E G H	7874	12630	OMIM:616863	Chromosome 16p13.2 deletion syndrome			2
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	USP8 CL E G H	9101	12631	ORPHA:401795	Autosomal recessive spastic paraplegia type 59			7
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	USP9X CL E G H	8239	12632	OMIM:300968	Mental retardation, X-linked 99, syndromic, female-restricted			27
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	USP9X CL E G H	8239	12632	ORPHA:480880	X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability			27
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	VAMP1 CL E G H	6843	12642	ORPHA:251282	Autosomal dominant spastic ataxia type 1			2
HP:0000496	HP:0000570	Abnormal saccadic eye movements	1	VAMP1 CL E G H	6843	12642	ORPHA:251282	Autosomal dominant spastic ataxia type 1			2
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	VAMP1 CL E G H	6843	12642	OMIM:618323	Myasthenic syndrome, congenital, 25, presynaptic			2
HP:0000496	HP:0007941	Limited extraocular movements	1	VAMP1 CL E G H	6843	12642	OMIM:618323	Myasthenic syndrome, congenital, 25, presynaptic	.		2
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	VAMP1 CL E G H	6843	12642	ORPHA:98914	Presynaptic congenital myasthenic syndromes			2
HP:0000496	HP:0000597	Ophthalmoparesis	1	VAMP1 CL E G H	6843	12642	ORPHA:98914	Presynaptic congenital myasthenic syndromes			2
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	VAMP1 CL E G H	6843	12642	ORPHA:98914	Presynaptic congenital myasthenic syndromes			2
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	VAMP1 CL E G H	6843	12642	OMIM:108600	Spastic ataxia 1, autosomal dominant			2
HP:0000496	HP:0000570	Abnormal saccadic eye movements	1	VAMP1 CL E G H	6843	12642	OMIM:108600	Spastic ataxia 1, autosomal dominant			2
HP:0000496	HP:0000597	Ophthalmoparesis	1	VARS2 CL E G H	57176	21642	OMIM:615917	Combined oxidative phosphorylation deficiency 20			56
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	VCP CL E G H	7415	12666	ORPHA:275872	Frontotemporal dementia with motor neuron disease			63
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	VLDLR CL E G H	7436	12698	OMIM:224050	Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1			111
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	VLDLR CL E G H	7436	12698	OMIM:224050	Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1			111
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	VLDLR CL E G H	7436	12698	ORPHA:1766	Dysequilibrium syndrome			111
HP:0000496	HP:0007941	Limited extraocular movements	1	VMA21 CL E G H	203547	22082	OMIM:310440	Myopathy, X-linked, with excessive autophagy	HP:0040283 - Occasional		10
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	VPS13A CL E G H	23230	1908	ORPHA:2388	Choreoacanthocytosis			130
HP:0000496	HP:0000570	Abnormal saccadic eye movements	1	VPS13A CL E G H	23230	1908	ORPHA:2388	Choreoacanthocytosis			130
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	VPS13B CL E G H	157680	2183	ORPHA:193	Cohen syndrome			546
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	VPS13B CL E G H	157680	2183	ORPHA:193	Cohen syndrome			546
HP:0000496	HP:0000570	Abnormal saccadic eye movements	1	VPS13D CL E G H	55187	23595	ORPHA:95434	Autosomal recessive cerebellar ataxia-movement disorder syndrome	HP:0040282 - Frequent
HP:0000496	HP:0025404	Abnormal visual fixation	1	VPS13D CL E G H	55187	23595	ORPHA:95434	Autosomal recessive cerebellar ataxia-movement disorder syndrome	HP:0040281 - Very frequent
HP:0000496	HP:0000570	Abnormal saccadic eye movements	1	VPS13D CL E G H	55187	23595	OMIM:607317	Spinocerebellar ataxia, autosomal recessive 4
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	VPS13D CL E G H	55187	23595	OMIM:607317	Spinocerebellar ataxia, autosomal recessive 4
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	VPS33A CL E G H	65082	18179	ORPHA:505248	Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders			1
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	VPS33A CL E G H	65082	18179	OMIM:617303	Mucopolysaccharidosis-Plus syndrome			1
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome
HP:0000496	HP:0000570	Abnormal saccadic eye movements	1	VPS41 CL E G H	27072	12713	ORPHA:95434	Autosomal recessive cerebellar ataxia-movement disorder syndrome	HP:0040282 - Frequent
HP:0000496	HP:0025404	Abnormal visual fixation	1	VPS41 CL E G H	27072	12713	ORPHA:95434	Autosomal recessive cerebellar ataxia-movement disorder syndrome	HP:0040281 - Very frequent
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	VPS41 CL E G H	27072	12713	OMIM:619389	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 29; SCAR29
HP:0000496	HP:0025404	Abnormal visual fixation	1	VPS4A CL E G H	27183	13488	OMIM:619273	CIMDAG SYNDROME; CIMDAG			1
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	VPS50 CL E G H	55610	25956	OMIM:619685	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND NEONATAL CHOLESTASIS; NEDMSC
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	VPS51 CL E G H	738	1172	OMIM:618606	PONTOCEREBELLAR HYPOPLASIA, TYPE 13; PCH13
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	VPS53 CL E G H	55275	25608	OMIM:615851	Pontocerebellar hypoplasia, type 2E			26
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	VRK1 CL E G H	7443	12718	ORPHA:2254	Pontocerebellar hypoplasia type 1			32
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	VRK1 CL E G H	7443	12718	ORPHA:2254	Pontocerebellar hypoplasia type 1			32
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	VSX1 CL E G H	30813	12723	ORPHA:98973	Posterior polymorphous corneal dystrophy			47
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	VWA3B CL E G H	200403	28385	OMIM:616948	Spinocerebellar ataxia, autosomal recessive 22			1
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	WAC CL E G H	51322	17327	OMIM:616708	Desanto-Shinawi syndrome			20
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	WAC CL E G H	51322	17327	ORPHA:284169	Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion			20
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	WAC CL E G H	51322	17327	ORPHA:466950	Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation			20
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	WARS2 CL E G H	10352	12730	OMIM:617710	Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures			2
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	WARS2 CL E G H	10352	12730	OMIM:617710	Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures			2
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	WARS2 CL E G H	10352	12730	ORPHA:572798	WARS2-related combined oxidative phosphorylation defect			2
HP:0000496	HP:0000617	Abnormality of ocular smooth pursuit	1	WARS2 CL E G H	10352	12730	ORPHA:572798	WARS2-related combined oxidative phosphorylation defect			2
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	WARS2 CL E G H	10352	12730	ORPHA:572798	WARS2-related combined oxidative phosphorylation defect			2
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	WASF1 CL E G H	8936	12732	OMIM:618707	NEURODEVELOPMENTAL DISORDER WITH ABSENT LANGUAGE AND VARIABLE SEIZURES; NEDALVS
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	WASHC4 CL E G H	23325	29174	OMIM:615817	Mental retardation, autosomal recessive 43			25
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	WDPCP CL E G H	51057	28027	ORPHA:110	Bardet-Biedl syndrome			60
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	WDR11 CL E G H	55717	13831	ORPHA:478	Kallmann syndrome			10
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	WDR19 CL E G H	57728	18340	ORPHA:1515	Cranioectodermal dysplasia			95
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	WDR26 CL E G H	80232	21208	ORPHA:513456	Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome			8
HP:0000496	HP:0025186	Marcus Gunn jaw winking synkinesis	1	WDR26 CL E G H	80232	21208	ORPHA:513456	Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome	HP:0040283 - Occasional		8
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	WDR26 CL E G H	80232	21208	OMIM:617616	Skraban-Deardorff syndrome			8
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	WDR35 CL E G H	57539	29250	ORPHA:1515	Cranioectodermal dysplasia			136
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	WDR35 CL E G H	57539	29250	OMIM:613610	Cranioectodermal dysplasia 2			136
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	WDR45 CL E G H	11152	28912	OMIM:615179	Albinism, oculocutaneous, type V			51
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	WDR48 CL E G H	57599	30914	ORPHA:401800	Autosomal recessive spastic paraplegia type 60			1
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	WDR73 CL E G H	84942	25928	OMIM:251300	Galloway-mowat syndrome 1			14
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	WDR73 CL E G H	84942	25928	OMIM:251300	Galloway-mowat syndrome 1			14
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	WDR81 CL E G H	124997	26600	OMIM:610185	Cerebellar ataxia, mental retardation, and dysequilibrium syndrome2			27
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	WDR81 CL E G H	124997	26600	ORPHA:1766	Dysequilibrium syndrome			27
HP:0000496	HP:0000597	Ophthalmoparesis	1	WFS1 CL E G H	7466	12762	ORPHA:3463	Wolfram syndrome			389
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	WFS1 CL E G H	7466	12762	ORPHA:3463	Wolfram syndrome			389
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	WFS1 CL E G H	7466	12762	OMIM:222300	Wolfram syndrome 1			389
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	WHRN CL E G H	25861	16361	ORPHA:231178	Usher syndrome type 2			155
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	WNT5A CL E G H	7474	12784	ORPHA:3107	Autosomal dominant Robinow syndrome			98
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	WT1 CL E G H	7490	12796	OMIM:106210	Aniridia			177
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	WT1 CL E G H	7490	12796	OMIM:106210	Aniridia			177
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	WT1 CL E G H	7490	12796	ORPHA:893	WAGR syndrome			177
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	WWOX CL E G H	51741	12799	ORPHA:284282	Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency			149
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	WWOX CL E G H	51741	12799	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040284 - Very rare		149
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	WWOX CL E G H	51741	12799	OMIM:614322	Spinocerebellar ataxia, autosomal recessive 12			149
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	XPA CL E G H	7507	12814	ORPHA:910	Xeroderma pigmentosum			34
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	XPC CL E G H	7508	12816	ORPHA:910	Xeroderma pigmentosum			86
HP:0000496	HP:0000570	Abnormal saccadic eye movements	1	XRCC1 CL E G H	7515	12828	OMIM:617633	Spinocerebellar ataxia, autosomal recessive 26			4
HP:0000496	HP:0000617	Abnormality of ocular smooth pursuit	1	XRCC1 CL E G H	7515	12828	OMIM:617633	Spinocerebellar ataxia, autosomal recessive 26			4
HP:0000496	HP:0000657	Oculomotor apraxia	1	XRCC1 CL E G H	7515	12828	OMIM:617633	Spinocerebellar ataxia, autosomal recessive 26	.		4
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	XRCC1 CL E G H	7515	12828	OMIM:617633	Spinocerebellar ataxia, autosomal recessive 26			4
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	XRCC2 CL E G H	7516	12829	ORPHA:84	Fanconi anemia			125
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	XRCC2 CL E G H	7516	12829	ORPHA:84	Fanconi anemia			125
HP:0000496	HP:0000617	Abnormality of ocular smooth pursuit	1	XRCC4 CL E G H	7518	12831	OMIM:616541	Short stature, microcephaly, and endocrine dysfunction			9
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	XRCC4 CL E G H	7518	12831	OMIM:616541	Short stature, microcephaly, and endocrine dysfunction			9
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	XYLT2 CL E G H	64132	15517	ORPHA:85194	Spondylo-ocular syndrome			5
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	XYLT2 CL E G H	64132	15517	OMIM:605822	Spondyloocular syndrome			5
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	YAP1 CL E G H	10413	16262	ORPHA:1473	Uveal coloboma-cleft lip and palate-intellectual disability			2
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	YAP1 CL E G H	10413	16262	ORPHA:1473	Uveal coloboma-cleft lip and palate-intellectual disability			2
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	YARS1 CL E G H	8565	12840	OMIM:619418	NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2; IMNEPD2
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	YARS2 CL E G H	51067	24249	OMIM:613561	Myopathy, lactic acidosis, and sideroblastic anemia 2			45
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	YARS2 CL E G H	51067	24249	OMIM:613561	Myopathy, lactic acidosis, and sideroblastic anemia 2			45
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	YME1L1 CL E G H	10730	12843	OMIM:617302	Optic atrophy 11			2
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	YWHAG CL E G H	7532	12852	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040284 - Very rare
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	YY1 CL E G H	7528	12856	OMIM:617557	Gabriele-De vries syndrome			7
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	YY1 CL E G H	7528	12856	ORPHA:506358	Gabriele-de Vries syndrome			7
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	ZBTB20 CL E G H	26137	13503	OMIM:259050	Primrose syndrome			17
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	ZC4H2 CL E G H	55906	24931	ORPHA:3454	Intellectual disability-developmental delay-contractures syndrome			19
HP:0000496	HP:0000657	Oculomotor apraxia	1	ZC4H2 CL E G H	55906	24931	ORPHA:3454	Intellectual disability-developmental delay-contractures syndrome	HP:0040281 - Very frequent		19
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	ZC4H2 CL E G H	55906	24931	OMIM:314580	Wieacker-Wolff syndrome			19
HP:0000496	HP:0000657	Oculomotor apraxia	1	ZC4H2 CL E G H	55906	24931	OMIM:314580	Wieacker-Wolff syndrome	HP:0040283 - Occasional		19
HP:0000496	HP:0000657	Oculomotor apraxia	1	ZC4H2 CL E G H	55906	24931	OMIM:301041	WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED; WRWFFR			19
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	ZDHHC9 CL E G H	51114	18475	OMIM:300799	Mental retardation, x-linked syndromic, Raymond type			10
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	ZEB1 CL E G H	6935	11642	ORPHA:98973	Posterior polymorphous corneal dystrophy			8
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	ZEB2 CL E G H	9839	14881	OMIM:235730	Mowat-Wilson syndrome			362
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation			362
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	ZEB2 CL E G H	9839	14881	ORPHA:261537	Mowat-Wilson syndrome due to monosomy 2q22			362
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	ZFHX4 CL E G H	79776	30939	ORPHA:91411	Congenital ptosis
HP:0000496	HP:0000597	Ophthalmoparesis	1	ZFHX4 CL E G H	79776	30939	ORPHA:91411	Congenital ptosis
HP:0000496	HP:0031705	Compensatory head posture	1	ZFHX4 CL E G H	79776	30939	ORPHA:91411	Congenital ptosis
HP:0000496	HP:0000617	Abnormality of ocular smooth pursuit	1	ZFYVE26 CL E G H	23503	20761	ORPHA:100996	Autosomal recessive spastic paraplegia type 15			189
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	ZFYVE26 CL E G H	23503	20761	ORPHA:100996	Autosomal recessive spastic paraplegia type 15			189
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	ZFYVE26 CL E G H	23503	20761	OMIM:270700	Spastic paraplegia 15, autosomal recessive			189
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	ZIC1 CL E G H	7545	12872	OMIM:616602	Craniosynostosis 6			5
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	ZIC1 CL E G H	7545	12872	OMIM:618736	STRUCTURAL BRAIN ANOMALIES WITH IMPAIRED INTELLECTUAL DEVELOPMENT AND CRANIOSYNOSTOSIS; BAIDCS			5
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	ZIC2 CL E G H	7546	12873	ORPHA:280200	Microform holoprosencephaly			34
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	ZMIZ1 CL E G H	57178	16493	OMIM:618659	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES; NEDDFSA
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	ZNF292 CL E G H	23036	18410	OMIM:619188	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 64; MRD64			3
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	ZNF292 CL E G H	23036	18410	OMIM:619188	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 64; MRD64			3
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	ZNF407 CL E G H	55628	19904	OMIM:619557	SHORT STATURE, IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, HYPOTONIA, AND OCULAR ANOMALIES; SIMHA			68
HP:0000496	HP:0000597	Ophthalmoparesis	1	ZNF408 CL E G H	79797	20041	ORPHA:791	Retinitis pigmentosa			14
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	ZNF408 CL E G H	79797	20041	ORPHA:791	Retinitis pigmentosa			14
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	ZNF423 CL E G H	23090	16762	ORPHA:2318	Joubert syndrome with oculorenal defect			49
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	ZNF423 CL E G H	23090	16762	ORPHA:2318	Joubert syndrome with oculorenal defect			49
HP:0000496	HP:0000597	Ophthalmoparesis	1	ZNF513 CL E G H	130557	26498	ORPHA:791	Retinitis pigmentosa			27
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	ZNF513 CL E G H	130557	26498	ORPHA:791	Retinitis pigmentosa			27
HP:0000496	HP:0012547	Abnormal involuntary eye movements	1	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0000496	HP:0000549	Abnormal conjugate eye movement	1	ZSWIM6 CL E G H	57688	29316	OMIM:617865	Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features			5
HP:0000496	HP:0000497	Globe retraction and deviation on abduction	2	CL E G H
HP:0000496	HP:0007295	Chaotic rapid conjugate ocular movements	2	CL E G H
HP:0000496	HP:0008507	Static ophthalmoparesis	2	CL E G H
HP:0000496	HP:0025720	Limited horizontal extraocular movement	2	CL E G H
HP:0000496	HP:0025721	Limited vertical extraocular movement	2	CL E G H
HP:0000496	HP:0031706	Compensatory chin depression	2	CL E G H
HP:0000496	HP:0031707	Compensatory face turn to the right	2	CL E G H
HP:0000496	HP:0031708	Compensatory face turn to the left	2	CL E G H
HP:0000496	HP:0031709	Compensatory head tilt to the right shoulder	2	CL E G H
HP:0000496	HP:0031710	Compensatory head tilt to the left shoulder	2	CL E G H
HP:0000496	HP:0500074	Dissociated vertical deviation	2	CL E G H
HP:0000496	HP:0500075	Dissociated horizontal deviation	2	CL E G H
HP:0000496	HP:0000639	Nystagmus	2	AARS1 CL E G H	16	20	OMIM:616339	Epileptic encephalopathy, early infantile, 29	.
HP:0000496	HP:0000639	Nystagmus	2	AARS1 CL E G H	16	20	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional
HP:0000496	HP:0000486	Strabismus	2	AARS1 CL E G H	16	20	OMIM:619691	TRICHOTHIODYSTROPHY 8, NONPHOTOSENSITIVE; TTD8
HP:0000496	HP:0008003	Jerky ocular pursuit movements	2	AARS1 CL E G H	16	20	OMIM:619691	TRICHOTHIODYSTROPHY 8, NONPHOTOSENSITIVE; TTD8
HP:0000496	HP:0000639	Nystagmus	2	AARS2 CL E G H	57505	21022	OMIM:615889	Leukoencephalopathy, progressive, with ovarian failure	.		143
HP:0000496	HP:0000486	Strabismus	2	AASS CL E G H	10157	17366	ORPHA:2203	Hyperlysinemia	HP:0040283 - Occasional		15
HP:0000496	HP:0000605	Supranuclear gaze palsy	2	AASS CL E G H	10157	17366	ORPHA:2203	Hyperlysinemia			15
HP:0000496	HP:0000602	Ophthalmoplegia	2	ABCA4 CL E G H	24	34	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		826
HP:0000496	HP:0000639	Nystagmus	2	ABCA4 CL E G H	24	34	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		826
HP:0000496	HP:0007704	Paroxysmal involuntary eye movements	2	ABCA4 CL E G H	24	34	ORPHA:827	Stargardt disease	HP:0040281 - Very frequent		826
HP:0000496	HP:0000486	Strabismus	2	ABCB7 CL E G H	22	48	ORPHA:2802	X-linked sideroblastic anemia and spinocerebellar ataxia	HP:0040283 - Occasional		35
HP:0000496	HP:0000639	Nystagmus	2	ABCB7 CL E G H	22	48	ORPHA:2802	X-linked sideroblastic anemia and spinocerebellar ataxia	HP:0040281 - Very frequent		35
HP:0000496	HP:0000486	Strabismus	2	ABCC8 CL E G H	6833	59	OMIM:240800	Hypoglycemia of infancy, leucine-sensitive	.		245
HP:0000496	HP:0000486	Strabismus	2	ABCC9 CL E G H	10060	60	OMIM:619719	INTELLECTUAL DISABILITY AND MYOPATHY SYNDROME; IDMYS			254
HP:0000496	HP:0000639	Nystagmus	2	ABCC9 CL E G H	10060	60	OMIM:619719	INTELLECTUAL DISABILITY AND MYOPATHY SYNDROME; IDMYS			254
HP:0000496	HP:0000639	Nystagmus	2	ABHD12 CL E G H	26090	15868	OMIM:612674	Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract	.		50
HP:0000496	HP:0000486	Strabismus	2	ABHD5 CL E G H	51099	21396	OMIM:275630	Chanarin-Dorfman syndrome	.		90
HP:0000496	HP:0000639	Nystagmus	2	ABHD5 CL E G H	51099	21396	OMIM:275630	Chanarin-Dorfman syndrome	.		90
HP:0000496	HP:0000486	Strabismus	2	ABHD5 CL E G H	51099	21396	ORPHA:98907	Neutral lipid storage disease with ichthyosis	HP:0040282 - Frequent		90
HP:0000496	HP:0000639	Nystagmus	2	ABHD5 CL E G H	51099	21396	ORPHA:98907	Neutral lipid storage disease with ichthyosis	HP:0040282 - Frequent		90
HP:0000496	HP:0000602	Ophthalmoplegia	2	ACADS CL E G H	35	90	OMIM:201470	Acyl-Coa dehydrogenase, short-chain, deficiency of			90
HP:0000496	HP:0000486	Strabismus	2	ACADSB CL E G H	36	91	OMIM:610006	2-Methylbutyryl-Coa dehydrogenase deficiency			111
HP:0000496	HP:0000639	Nystagmus	2	ACBD5 CL E G H	91452	23338	OMIM:618863	RETINAL DYSTROPHY WITH LEUKODYSTROPHY; RDLKD			1
HP:0000496	HP:0000486	Strabismus	2	ACKR3 CL E G H	57007	23692	OMIM:619215	OCULOMOTOR-ABDUCENS SYNKINESIS; OCABSN
HP:0000496	HP:0000486	Strabismus	2	ACO2 CL E G H	50	118	OMIM:614559	INFANTILE CEREBELLAR-RETINAL DEGENERATION; ICRD			60
HP:0000496	HP:0000639	Nystagmus	2	ACO2 CL E G H	50	118	OMIM:614559	INFANTILE CEREBELLAR-RETINAL DEGENERATION; ICRD			60
HP:0000496	HP:0000486	Strabismus	2	ACOX1 CL E G H	51	119	ORPHA:2971	Peroxisomal acyl-CoA oxidase deficiency	HP:0040282 - Frequent		120
HP:0000496	HP:0000486	Strabismus	2	ACOX1 CL E G H	51	119	OMIM:264470	Peroxisomal acyl-coa oxidase deficiency	.		120
HP:0000496	HP:0000639	Nystagmus	2	ACOX1 CL E G H	51	119	ORPHA:2971	Peroxisomal acyl-CoA oxidase deficiency	HP:0040282 - Frequent		120
HP:0000496	HP:0000639	Nystagmus	2	ACOX1 CL E G H	51	119	OMIM:264470	Peroxisomal acyl-coa oxidase deficiency	.		120
HP:0000496	HP:0000605	Supranuclear gaze palsy	2	ACOX2 CL E G H	8309	120	OMIM:617308	Bile acid synthesis defect, congenital, 6			2
HP:0000496	HP:0000486	Strabismus	2	ACSL4 CL E G H	2182	3571	ORPHA:86818	Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome	HP:0040283 - Occasional		19
HP:0000496	HP:0000602	Ophthalmoplegia	2	ACTA1 CL E G H	58	129	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		96
HP:0000496	HP:0000602	Ophthalmoplegia	2	ACTA1 CL E G H	58	129	ORPHA:171433	Intermediate nemaline myopathy	HP:0040283 - Occasional		96
HP:0000496	HP:0000602	Ophthalmoplegia	2	ACTA1 CL E G H	58	129	OMIM:255310	Myopathy, congenital, with fiber-type disproportion			96
HP:0000496	HP:0000602	Ophthalmoplegia	2	ACTA1 CL E G H	58	129	ORPHA:171430	Severe congenital nemaline myopathy	HP:0040283 - Occasional		96
HP:0000496	HP:0000639	Nystagmus	2	ACTL6B CL E G H	51412	160	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		2
HP:0000496	HP:0007715	Weak extraocular muscles	2	ACTN2 CL E G H	88	164	OMIM:618654	MYOPATHY, CONGENITAL, WITH STRUCTURED CORES AND Z-LINE ABNORMALITIES; MYOCOZ			307
HP:0000496	HP:0000486	Strabismus	2	ADA2 CL E G H	51816	1839	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare		22
HP:0000496	HP:0000602	Ophthalmoplegia	2	ADA2 CL E G H	51816	1839	OMIM:615688	Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome			22
HP:0000496	HP:0000639	Nystagmus	2	ADAMTSL4 CL E G H	54507	19706	ORPHA:1885	Isolated ectopia lentis	HP:0040283 - Occasional		84
HP:0000496	HP:0000639	Nystagmus	2	ADAR CL E G H	103	225	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional		116
HP:0000496	HP:0000639	Nystagmus	2	ADAR CL E G H	103	225	OMIM:615010	Aicardi-Goutieres syndrome 6	HP:0040283 - Occasional		116
HP:0000496	HP:0000639	Nystagmus	2	ADAR CL E G H	103	225	ORPHA:225154	Familial infantile bilateral striatal necrosis			116
HP:0000496	HP:0000486	Strabismus	2	ADARB1 CL E G H	104	226	OMIM:618862	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, MICROCEPHALY, AND SEIZURES; NEDHYMS			1
HP:0000496	HP:0000486	Strabismus	2	ADAT3 CL E G H	113179	25151	ORPHA:363528	Intellectual disability-strabismus syndrome	HP:0040281 - Very frequent		9
HP:0000496	HP:0000486	Strabismus	2	ADAT3 CL E G H	113179	25151	OMIM:615286	Mental retardation, autosomal recessive 36	.		9
HP:0000496	HP:0000486	Strabismus	2	ADD3 CL E G H	120	245	OMIM:617008	Cerebral palsy, spastic quadriplegic, 3	.		3
HP:0000496	HP:0000605	Supranuclear gaze palsy	2	ADD3 CL E G H	120	245	OMIM:617008	Cerebral palsy, spastic quadriplegic, 3	.		3
HP:0000496	HP:0000639	Nystagmus	2	ADD3 CL E G H	120	245	OMIM:617008	Cerebral palsy, spastic quadriplegic, 3	.		3
HP:0000496	HP:0000486	Strabismus	2	ADGRG1 CL E G H	9289	4512	ORPHA:101070	Bilateral frontoparietal polymicrogyria	HP:0040283 - Occasional		88
HP:0000496	HP:0000639	Nystagmus	2	ADGRG1 CL E G H	9289	4512	ORPHA:98889	Bilateral perisylvian polymicrogyria	HP:0040283 - Occasional		88
HP:0000496	HP:0000486	Strabismus	2	ADGRG1 CL E G H	9289	4512	OMIM:606854	Polymicrogyria, bilateral frontoparietal			88
HP:0000496	HP:0000639	Nystagmus	2	ADGRG1 CL E G H	9289	4512	OMIM:606854	Polymicrogyria, bilateral frontoparietal	.		88
HP:0000496	HP:0000639	Nystagmus	2	ADGRV1 CL E G H	84059	17416	ORPHA:231178	Usher syndrome type 2	HP:0040283 - Occasional		530
HP:0000496	HP:0000486	Strabismus	2	ADNP CL E G H	23394	15766	ORPHA:404448	ADNP syndrome	HP:0040283 - Occasional		47
HP:0000496	HP:0000486	Strabismus	2	ADNP CL E G H	23394	15766	OMIM:615873	Helsmoortel-van der Aa syndrome	.		47
HP:0000496	HP:0007738	Uncontrolled eye movements	2	ADORA2A CL E G H	135	263	ORPHA:363549	Acute encephalopathy with biphasic seizures and late reduced diffusion	HP:0040283 - Occasional		1
HP:0000496	HP:0000486	Strabismus	2	ADPRS CL E G H	54936	21304	OMIM:618170	Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures	.
HP:0000496	HP:0000602	Ophthalmoplegia	2	ADPRS CL E G H	54936	21304	OMIM:618170	Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures	.
HP:0000496	HP:0000639	Nystagmus	2	ADPRS CL E G H	54936	21304	OMIM:618170	Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures	.
HP:0000496	HP:0000486	Strabismus	2	ADSL CL E G H	158	291	OMIM:103050	Adenylosuccinase deficiency	.		118
HP:0000496	HP:0000639	Nystagmus	2	ADSL CL E G H	158	291	OMIM:103050	Adenylosuccinase deficiency	.		118
HP:0000496	HP:0000486	Strabismus	2	AEBP1 CL E G H	165	303	ORPHA:536532	Classical-like Ehlers-Danlos syndrome type 2	HP:0040283 - Occasional
HP:0000496	HP:0000486	Strabismus	2	AFF3 CL E G H	3899	6473	OMIM:619297	KINSSHIP SYNDROME; KINS			1
HP:0000496	HP:0000639	Nystagmus	2	AFF3 CL E G H	3899	6473	OMIM:619297	KINSSHIP SYNDROME; KINS			1
HP:0000496	HP:0000486	Strabismus	2	AFF4 CL E G H	27125	17869	ORPHA:444077	Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome	HP:0040283 - Occasional		6
HP:0000496	HP:0000514	Slow saccadic eye movements	2	AFG3L2 CL E G H	10939	315	OMIM:610246	Spinocerebellar ataxia 28	.		86
HP:0000496	HP:0000639	Nystagmus	2	AFG3L2 CL E G H	10939	315	OMIM:610246	Spinocerebellar ataxia 28			86
HP:0000496	HP:0000641	Dysmetric saccades	2	AFG3L2 CL E G H	10939	315	OMIM:610246	Spinocerebellar ataxia 28	.		86
HP:0000496	HP:0000514	Slow saccadic eye movements	2	AFG3L2 CL E G H	10939	315	ORPHA:101109	Spinocerebellar ataxia type 28	HP:0040282 - Frequent		86
HP:0000496	HP:0000639	Nystagmus	2	AFG3L2 CL E G H	10939	315	ORPHA:101109	Spinocerebellar ataxia type 28	HP:0040282 - Frequent		86
HP:0000496	HP:0000602	Ophthalmoplegia	2	AGBL5 CL E G H	60509	26147	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		2
HP:0000496	HP:0000639	Nystagmus	2	AGBL5 CL E G H	60509	26147	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		2
HP:0000496	HP:0000486	Strabismus	2	AGK CL E G H	55750	21869	ORPHA:1369	Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome	HP:0040281 - Very frequent		82
HP:0000496	HP:0000639	Nystagmus	2	AGK CL E G H	55750	21869	ORPHA:1369	Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome	HP:0040281 - Very frequent		82
HP:0000496	HP:0000486	Strabismus	2	AGK CL E G H	55750	21869	OMIM:212350	Sengers syndrome	.		82
HP:0000496	HP:0000639	Nystagmus	2	AGK CL E G H	55750	21869	OMIM:212350	Sengers syndrome	.		82
HP:0000496	HP:0000486	Strabismus	2	AGO2 CL E G H	27161	3263	OMIM:619149	LESSEL-KREIENKAMP SYNDROME; LESKRES
HP:0000496	HP:0000486	Strabismus	2	AGRN CL E G H	375790	329	ORPHA:98914	Presynaptic congenital myasthenic syndromes			127
HP:0000496	HP:0000602	Ophthalmoplegia	2	AGRN CL E G H	375790	329	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent		127
HP:0000496	HP:0000639	Nystagmus	2	AGRN CL E G H	375790	329	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040284 - Very rare		127
HP:0000496	HP:0000486	Strabismus	2	AGTPBP1 CL E G H	23287	17258	OMIM:618276	Neurodegeneration, childhood-onset, with cerebellar atrophy	.		1
HP:0000496	HP:0000514	Slow saccadic eye movements	2	AGTPBP1 CL E G H	23287	17258	OMIM:618276	Neurodegeneration, childhood-onset, with cerebellar atrophy	.		1
HP:0000496	HP:0000605	Supranuclear gaze palsy	2	AGTPBP1 CL E G H	23287	17258	OMIM:618276	Neurodegeneration, childhood-onset, with cerebellar atrophy			1
HP:0000496	HP:0000639	Nystagmus	2	AGTPBP1 CL E G H	23287	17258	OMIM:618276	Neurodegeneration, childhood-onset, with cerebellar atrophy	.		1
HP:0000496	HP:0000486	Strabismus	2	AGTPBP1 CL E G H	23287	17258	ORPHA:2254	Pontocerebellar hypoplasia type 1			1
HP:0000496	HP:0000639	Nystagmus	2	AGTPBP1 CL E G H	23287	17258	ORPHA:2254	Pontocerebellar hypoplasia type 1			1
HP:0000496	HP:0000486	Strabismus	2	AHCY CL E G H	191	343	ORPHA:88618	S-adenosylhomocysteine hydrolase deficiency	HP:0040282 - Frequent		31
HP:0000496	HP:0000486	Strabismus	2	AHDC1 CL E G H	27245	25230	ORPHA:412069	AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome	HP:0040282 - Frequent		36
HP:0000496	HP:0000639	Nystagmus	2	AHDC1 CL E G H	27245	25230	ORPHA:412069	AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome			36
HP:0000496	HP:0000486	Strabismus	2	AHDC1 CL E G H	27245	25230	OMIM:615829	Xia-Gibbs syndrome			36
HP:0000496	HP:0000486	Strabismus	2	AHI1 CL E G H	54806	21575	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional		175
HP:0000496	HP:0000639	Nystagmus	2	AHI1 CL E G H	54806	21575	ORPHA:475	Joubert syndrome	HP:0040282 - Frequent		175
HP:0000496	HP:0000639	Nystagmus	2	AHI1 CL E G H	54806	21575	OMIM:608629	Joubert syndrome 3	.		175
HP:0000496	HP:0000486	Strabismus	2	AHI1 CL E G H	54806	21575	ORPHA:220493	Joubert syndrome with ocular defect	HP:0040283 - Occasional		175
HP:0000496	HP:0000639	Nystagmus	2	AHI1 CL E G H	54806	21575	ORPHA:220493	Joubert syndrome with ocular defect	HP:0040282 - Frequent		175
HP:0000496	HP:0000602	Ophthalmoplegia	2	AHI1 CL E G H	54806	21575	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		175
HP:0000496	HP:0000639	Nystagmus	2	AHI1 CL E G H	54806	21575	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		175
HP:0000496	HP:0000602	Ophthalmoplegia	2	AHR CL E G H	196	348	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		2
HP:0000496	HP:0000639	Nystagmus	2	AHR CL E G H	196	348	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		2
HP:0000496	HP:0000639	Nystagmus	2	AIFM1 CL E G H	9131	8768	ORPHA:83629	Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome			60
HP:0000496	HP:0000639	Nystagmus	2	AIFM1 CL E G H	9131	8768	OMIM:300232	Spondyloepimetaphyseal dysplasia, X-linked, with mental deterioration			60
HP:0000496	HP:0000639	Nystagmus	2	AIMP1 CL E G H	9255	10648	OMIM:260600	Leukodystrophy, hypomyelinating, 3	.		4
HP:0000496	HP:0000602	Ophthalmoplegia	2	AIP CL E G H	9049	358	ORPHA:2965	Prolactinoma			95
HP:0000496	HP:0012246	Oculomotor nerve palsy	2	AIP CL E G H	9049	358	ORPHA:2965	Prolactinoma	HP:0040283 - Occasional		95
HP:0000496	HP:0000639	Nystagmus	2	AIPL1 CL E G H	23746	359	ORPHA:65	Leber congenital amaurosis	HP:0040282 - Frequent		114
HP:0000496	HP:0000639	Nystagmus	2	AIPL1 CL E G H	23746	359	OMIM:604393	Leber congenital amaurosis 4			114
HP:0000496	HP:0000602	Ophthalmoplegia	2	AKT1 CL E G H	207	391	ORPHA:2495	Meningioma	HP:0040283 - Occasional		54
HP:0000496	HP:0007715	Weak extraocular muscles	2	AKT1 CL E G H	207	391	ORPHA:2495	Meningioma	HP:0040283 - Occasional		54
HP:0000496	HP:0012246	Oculomotor nerve palsy	2	AKT1 CL E G H	207	391	ORPHA:2495	Meningioma	HP:0040283 - Occasional		54
HP:0000496	HP:0000486	Strabismus	2	AKT1 CL E G H	207	391	ORPHA:744	Proteus syndrome	HP:0040283 - Occasional		54
HP:0000496	HP:0012246	Oculomotor nerve palsy	2	AKT3 CL E G H	10000	393	ORPHA:99802	Hemimegalencephaly	HP:0040283 - Occasional		19
HP:0000496	HP:0000486	Strabismus	2	ALDH18A1 CL E G H	5832	9722	ORPHA:90348	Autosomal dominant cutis laxa			89
HP:0000496	HP:0000639	Nystagmus	2	ALDH18A1 CL E G H	5832	9722	ORPHA:447753	Autosomal dominant spastic paraplegia type 9A			89
HP:0000496	HP:0000486	Strabismus	2	ALDH18A1 CL E G H	5832	9722	OMIM:616603	Cutis laxa, autosomal dominant 3	HP:0040283 - Occasional		89
HP:0000496	HP:0000486	Strabismus	2	ALDH18A1 CL E G H	5832	9722	OMIM:219150	Cutis laxa, autosomal recessive, type IIIA	.		89
HP:0000496	HP:0000639	Nystagmus	2	ALDH18A1 CL E G H	5832	9722	OMIM:601162	Spastic paraplegia 9A, autosomal dominant	HP:0040283 - Occasional		89
HP:0000496	HP:0000486	Strabismus	2	ALDH1A3 CL E G H	220	409	ORPHA:35612	Nanophthalmos	HP:0040281 - Very frequent		10
HP:0000496	HP:0000486	Strabismus	2	ALDH3A2 CL E G H	224	403	OMIM:270200	Sjogren-Larsson syndrome			87
HP:0000496	HP:0000605	Supranuclear gaze palsy	2	ALDH4A1 CL E G H	8659	406	ORPHA:79101	Hyperprolinemia type 2			74
HP:0000496	HP:0000486	Strabismus	2	ALDH7A1 CL E G H	501	877	OMIM:266100	Epilepsy, pyridoxine-dependent			227
HP:0000496	HP:0000486	Strabismus	2	ALG1 CL E G H	56052	18294	ORPHA:79327	ALG1-CDG	HP:0040282 - Frequent		58
HP:0000496	HP:0000639	Nystagmus	2	ALG1 CL E G H	56052	18294	ORPHA:79327	ALG1-CDG	HP:0040283 - Occasional		58
HP:0000496	HP:0000486	Strabismus	2	ALG11 CL E G H	440138	32456	ORPHA:280071	ALG11-CDG	HP:0040283 - Occasional		41
HP:0000496	HP:0000486	Strabismus	2	ALG11 CL E G H	440138	32456	OMIM:613661	Congenital disorder of glycosylation, type Ip	.		41
HP:0000496	HP:0000486	Strabismus	2	ALG12 CL E G H	79087	19358	ORPHA:79324	ALG12-CDG	HP:0040283 - Occasional		68
HP:0000496	HP:0000639	Nystagmus	2	ALG13 CL E G H	79868	30881	ORPHA:324422	ALG13-CDG	HP:0040283 - Occasional		96
HP:0000496	HP:0000639	Nystagmus	2	ALG13 CL E G H	79868	30881	OMIM:300884	Epileptic encephalopathy, early infantile, 36			96
HP:0000496	HP:0000486	Strabismus	2	ALG2 CL E G H	85365	23159	ORPHA:79326	ALG2-CDG			46
HP:0000496	HP:0000486	Strabismus	2	ALG2 CL E G H	85365	23159	OMIM:607906	Congenital disorder of glycosylation, type Ii			46
HP:0000496	HP:0000639	Nystagmus	2	ALG2 CL E G H	85365	23159	OMIM:607906	Congenital disorder of glycosylation, type Ii	.		46
HP:0000496	HP:0000639	Nystagmus	2	ALG3 CL E G H	10195	23056	ORPHA:79321	ALG3-CDG	HP:0040284 - Very rare		37
HP:0000496	HP:0000486	Strabismus	2	ALG3 CL E G H	10195	23056	OMIM:601110	Congenital disorder of glycosylation, type Id	.		37
HP:0000496	HP:0000486	Strabismus	2	ALG6 CL E G H	29929	23157	ORPHA:79320	ALG6-CDG	HP:0040283 - Occasional		66
HP:0000496	HP:0000486	Strabismus	2	ALG6 CL E G H	29929	23157	OMIM:603147	Congenital disorder of glycosylation, type Ic	.		66
HP:0000496	HP:0000639	Nystagmus	2	ALG8 CL E G H	79053	23161	ORPHA:79325	ALG8-CDG	HP:0040283 - Occasional		46
HP:0000496	HP:0000486	Strabismus	2	ALG9 CL E G H	79796	15672	ORPHA:79328	ALG9-CDG			93
HP:0000496	HP:0000486	Strabismus	2	ALG9 CL E G H	79796	15672	OMIM:608776	Congenital disorder of glycosylation, type Il			93
HP:0000496	HP:0000639	Nystagmus	2	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome	HP:0040281 - Very frequent		404
HP:0000496	HP:0000639	Nystagmus	2	ALMS1 CL E G H	7840	428	OMIM:203800	Alstrom syndrome	.		404
HP:0000496	HP:0000639	Nystagmus	2	ALS2 CL E G H	57679	443	OMIM:205100	Amyotrophic lateral sclerosis 2, juvenile			114
HP:0000496	HP:0000605	Supranuclear gaze palsy	2	ALS2 CL E G H	57679	443	ORPHA:300605	Juvenile amyotrophic lateral sclerosis	HP:0040283 - Occasional		114
HP:0000496	HP:0000639	Nystagmus	2	ALS2 CL E G H	57679	443	ORPHA:300605	Juvenile amyotrophic lateral sclerosis	HP:0040283 - Occasional		114
HP:0000496	HP:0001152	Saccadic smooth pursuit	2	ALS2 CL E G H	57679	443	OMIM:606353	Primary lateral sclerosis, juvenile	.		114
HP:0000496	HP:0000514	Slow saccadic eye movements	2	ALS2 CL E G H	57679	443	OMIM:607225	Spastic paralysis, infantile-onset ascending	.		114
HP:0000496	HP:0000486	Strabismus	2	ALX3 CL E G H	257	449	ORPHA:391474	Frontorhiny	HP:0040282 - Frequent		9
HP:0000496	HP:0000486	Strabismus	2	ALX4 CL E G H	60529	450	OMIM:613451	Frontonasal dysplasia 2			132
HP:0000496	HP:0000639	Nystagmus	2	ALX4 CL E G H	60529	450	OMIM:613451	Frontonasal dysplasia 2			132
HP:0000496	HP:0000486	Strabismus	2	ALX4 CL E G H	60529	450	ORPHA:228390	Frontonasal dysplasia-alopecia-genital anomalies syndrome	HP:0040281 - Very frequent		132
HP:0000496	HP:0000639	Nystagmus	2	ALX4 CL E G H	60529	450	ORPHA:228390	Frontonasal dysplasia-alopecia-genital anomalies syndrome	HP:0040281 - Very frequent		132
HP:0000496	HP:0000486	Strabismus	2	ALX4 CL E G H	60529	450	ORPHA:52022	Potocki-Shaffer syndrome	HP:0040282 - Frequent		132
HP:0000496	HP:0000639	Nystagmus	2	ALX4 CL E G H	60529	450	ORPHA:52022	Potocki-Shaffer syndrome	HP:0040282 - Frequent		132
HP:0000496	HP:0000486	Strabismus	2	AMMECR1 CL E G H	9949	467	ORPHA:86818	Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome	HP:0040283 - Occasional		2
HP:0000496	HP:0000486	Strabismus	2	AMMECR1 CL E G H	9949	467	OMIM:300990	Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis			2
HP:0000496	HP:0000486	Strabismus	2	ANAPC7 CL E G H	51434	17380	OMIM:619699	FERGUSON-BONNI NEURODEVELOPMENTAL SYNDROME; FERBON
HP:0000496	HP:0012246	Oculomotor nerve palsy	2	ANGPTL6 CL E G H	83854	23140	ORPHA:231160	Familial cerebral saccular aneurysm	HP:0040283 - Occasional
HP:0000496	HP:0000639	Nystagmus	2	ANK1 CL E G H	286	492	ORPHA:251066	8p11.2 deletion syndrome	HP:0040282 - Frequent		150
HP:0000496	HP:0000486	Strabismus	2	ANKRD11 CL E G H	29123	21316	ORPHA:261250	16q24.3 microdeletion syndrome	HP:0040283 - Occasional		102
HP:0000496	HP:0000639	Nystagmus	2	ANKRD11 CL E G H	29123	21316	ORPHA:261250	16q24.3 microdeletion syndrome	HP:0040283 - Occasional		102
HP:0000496	HP:0000486	Strabismus	2	ANKRD11 CL E G H	29123	21316	ORPHA:2332	KBG syndrome	HP:0040282 - Frequent		102
HP:0000496	HP:0000486	Strabismus	2	ANKRD17 CL E G H	26057	23575	OMIM:619504	CHOPRA-AMIEL-GORDON SYNDROME; CAGS			2
HP:0000496	HP:0000639	Nystagmus	2	ANO10 CL E G H	55129	25519	ORPHA:284289	Adult-onset autosomal recessive cerebellar ataxia			64
HP:0000496	HP:0000641	Dysmetric saccades	2	ANO10 CL E G H	55129	25519	ORPHA:284289	Adult-onset autosomal recessive cerebellar ataxia	HP:0040282 - Frequent		64
HP:0000496	HP:0001152	Saccadic smooth pursuit	2	ANO10 CL E G H	55129	25519	ORPHA:284289	Adult-onset autosomal recessive cerebellar ataxia	HP:0040282 - Frequent		64
HP:0000496	HP:0000639	Nystagmus	2	ANO10 CL E G H	55129	25519	OMIM:613728	Spinocerebellar ataxia, autosomal recessive 10	.		64
HP:0000496	HP:0007338	Hypermetric saccades	2	ANO10 CL E G H	55129	25519	OMIM:613728	Spinocerebellar ataxia, autosomal recessive 10	.		64
HP:0000496	HP:0000639	Nystagmus	2	ANOS1 CL E G H	3730	6211	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional		65
HP:0000496	HP:0000486	Strabismus	2	ANTXR1 CL E G H	84168	21014	OMIM:230740	Gapo syndrome	.		8
HP:0000496	HP:0000639	Nystagmus	2	ANTXR1 CL E G H	84168	21014	ORPHA:2067	GAPO syndrome	HP:0040283 - Occasional		8
HP:0000496	HP:0000639	Nystagmus	2	ANTXR1 CL E G H	84168	21014	OMIM:230740	Gapo syndrome	.		8
HP:0000496	HP:0000486	Strabismus	2	AP1G1 CL E G H	164	555	OMIM:619467	USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL DOMINANT; USRISD
HP:0000496	HP:0000486	Strabismus	2	AP1S2 CL E G H	8905	560	ORPHA:1568	X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome	HP:0040281 - Very frequent		13
HP:0000496	HP:0000486	Strabismus	2	AP3B1 CL E G H	8546	566	OMIM:608233	Hermansky-Pudlak syndrome 2	.		83
HP:0000496	HP:0000639	Nystagmus	2	AP3B1 CL E G H	8546	566	OMIM:608233	Hermansky-Pudlak syndrome 2			83
HP:0000496	HP:0000639	Nystagmus	2	AP3B2 CL E G H	8120	567	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		7
HP:0000496	HP:0000639	Nystagmus	2	AP3D1 CL E G H	8943	568	OMIM:617050	HERMANSKY-PUDLAK SYNDROME 10; HPS10			1
HP:0000496	HP:0000486	Strabismus	2	AP3D1 CL E G H	8943	568	ORPHA:1000	Ocular albinism with late-onset sensorineural deafness	HP:0040282 - Frequent		1
HP:0000496	HP:0000639	Nystagmus	2	AP3D1 CL E G H	8943	568	ORPHA:1000	Ocular albinism with late-onset sensorineural deafness	HP:0040281 - Very frequent		1
HP:0000496	HP:0000486	Strabismus	2	AP3D1 CL E G H	8943	568	ORPHA:54	X-linked recessive ocular albinism	HP:0040282 - Frequent		1
HP:0000496	HP:0000639	Nystagmus	2	AP3D1 CL E G H	8943	568	ORPHA:54	X-linked recessive ocular albinism	HP:0040281 - Very frequent		1
HP:0000496	HP:0000486	Strabismus	2	AP4B1 CL E G H	10717	572	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia	HP:0040284 - Very rare		49
HP:0000496	HP:0000486	Strabismus	2	AP4E1 CL E G H	23431	573	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia	HP:0040284 - Very rare		48
HP:0000496	HP:0000639	Nystagmus	2	AP4E1 CL E G H	23431	573	OMIM:613744	Spastic paraplegia 51, autosomal recessive	.		48
HP:0000496	HP:0000486	Strabismus	2	AP4M1 CL E G H	9179	574	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia	HP:0040284 - Very rare		41
HP:0000496	HP:0000486	Strabismus	2	AP4M1 CL E G H	9179	574	OMIM:612936	Spastic paraplegia 50, autosomal recessive	.		41
HP:0000496	HP:0000486	Strabismus	2	AP4S1 CL E G H	11154	575	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia	HP:0040284 - Very rare		18
HP:0000496	HP:0000639	Nystagmus	2	APC CL E G H	324	583	ORPHA:3258	Cenani-Lenz syndrome	HP:0040283 - Occasional		3179
HP:0000496	HP:0000486	Strabismus	2	APC CL E G H	324	583	ORPHA:99818	Turcot syndrome with polyposis			3179
HP:0000496	HP:0000486	Strabismus	2	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome	HP:0040284 - Very rare		1
HP:0000496	HP:0000639	Nystagmus	2	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome	HP:0040284 - Very rare		1
HP:0000496	HP:0000571	Hypometric saccades	2	APTX CL E G H	54840	15984	OMIM:208920	Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia	.		61
HP:0000496	HP:0000602	Ophthalmoplegia	2	APTX CL E G H	54840	15984	OMIM:208920	Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia			61
HP:0000496	HP:0000639	Nystagmus	2	APTX CL E G H	54840	15984	OMIM:208920	Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia			61
HP:0000496	HP:0000486	Strabismus	2	ARCN1 CL E G H	372	649	OMIM:617164	Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay			3
HP:0000496	HP:0000486	Strabismus	2	ARHGAP31 CL E G H	57514	29216	ORPHA:974	Adams-Oliver syndrome	HP:0040282 - Frequent		147
HP:0000496	HP:0000486	Strabismus	2	ARHGAP31 CL E G H	57514	29216	OMIM:100300	Adams-Oliver syndrome 1			147
HP:0000496	HP:0000602	Ophthalmoplegia	2	ARHGEF18 CL E G H	23370	17090	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		6
HP:0000496	HP:0000639	Nystagmus	2	ARHGEF18 CL E G H	23370	17090	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		6
HP:0000496	HP:0000486	Strabismus	2	ARHGEF2 CL E G H	9181	682	OMIM:617523	Neurodevelopmental disorder with midbrain and hindbrain malformations	.		1
HP:0000496	HP:0000639	Nystagmus	2	ARHGEF2 CL E G H	9181	682	OMIM:617523	Neurodevelopmental disorder with midbrain and hindbrain malformations	.		1
HP:0000496	HP:0000486	Strabismus	2	ARID1A CL E G H	8289	11110	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent		88
HP:0000496	HP:0000486	Strabismus	2	ARID1A CL E G H	8289	11110	OMIM:614607	Coffin-Siris syndrome 2			88
HP:0000496	HP:0000486	Strabismus	2	ARID1B CL E G H	57492	18040	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent		219
HP:0000496	HP:0000486	Strabismus	2	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1			219
HP:0000496	HP:0000639	Nystagmus	2	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1	.		219
HP:0000496	HP:0000486	Strabismus	2	ARID2 CL E G H	196528	18037	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent		25
HP:0000496	HP:0000486	Strabismus	2	ARL13B CL E G H	200894	25419	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional		62
HP:0000496	HP:0000639	Nystagmus	2	ARL13B CL E G H	200894	25419	ORPHA:475	Joubert syndrome	HP:0040282 - Frequent		62
HP:0000496	HP:0000602	Ophthalmoplegia	2	ARL2BP CL E G H	23568	17146	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		3
HP:0000496	HP:0000639	Nystagmus	2	ARL2BP CL E G H	23568	17146	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		3
HP:0000496	HP:0000486	Strabismus	2	ARL3 CL E G H	403	694	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional		1
HP:0000496	HP:0000639	Nystagmus	2	ARL3 CL E G H	403	694	ORPHA:475	Joubert syndrome	HP:0040282 - Frequent		1
HP:0000496	HP:0000602	Ophthalmoplegia	2	ARL3 CL E G H	403	694	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		1
HP:0000496	HP:0000639	Nystagmus	2	ARL3 CL E G H	403	694	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		1
HP:0000496	HP:0000639	Nystagmus	2	ARL6 CL E G H	84100	13210	ORPHA:110	Bardet-Biedl syndrome	HP:0040282 - Frequent		29
HP:0000496	HP:0000486	Strabismus	2	ARL6 CL E G H	84100	13210	OMIM:209900	Bardet-Biedl syndrome 1	.		29
HP:0000496	HP:0000639	Nystagmus	2	ARL6 CL E G H	84100	13210	OMIM:209900	Bardet-Biedl syndrome 1	.		29
HP:0000496	HP:0000602	Ophthalmoplegia	2	ARL6 CL E G H	84100	13210	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		29
HP:0000496	HP:0000639	Nystagmus	2	ARL6 CL E G H	84100	13210	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		29
HP:0000496	HP:0000486	Strabismus	2	ARMC9 CL E G H	80210	20730	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional
HP:0000496	HP:0000639	Nystagmus	2	ARMC9 CL E G H	80210	20730	ORPHA:475	Joubert syndrome	HP:0040282 - Frequent
HP:0000496	HP:0000486	Strabismus	2	ARNT2 CL E G H	9915	16876	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040282 - Frequent
HP:0000496	HP:0000639	Nystagmus	2	ARNT2 CL E G H	9915	16876	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040282 - Frequent
HP:0000496	HP:0000486	Strabismus	2	ARPC4 CL E G H	10093	707	OMIM:620141
HP:0000496	HP:0000639	Nystagmus	2	ARV1 CL E G H	64801	29561	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		3
HP:0000496	HP:0000486	Strabismus	2	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional		1
HP:0000496	HP:0000486	Strabismus	2	ARX CL E G H	170302	18060	ORPHA:2508	Corpus callosum agenesis-abnormal genitalia syndrome	HP:0040282 - Frequent		166
HP:0000496	HP:0000639	Nystagmus	2	ARX CL E G H	170302	18060	ORPHA:2508	Corpus callosum agenesis-abnormal genitalia syndrome	HP:0040282 - Frequent		166
HP:0000496	HP:0000486	Strabismus	2	ARX CL E G H	170302	18060	OMIM:300004	Corpus callosum, agenesis of, with abnormal genitalia	.		166
HP:0000496	HP:0000639	Nystagmus	2	ARX CL E G H	170302	18060	OMIM:300004	Corpus callosum, agenesis of, with abnormal genitalia	.		166
HP:0000496	HP:0000486	Strabismus	2	ARX CL E G H	170302	18060	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare		166
HP:0000496	HP:0000486	Strabismus	2	ARX CL E G H	170302	18060	OMIM:300215	Lissencephaly, X-linked, 2			166
HP:0000496	HP:0000639	Nystagmus	2	ASAH1 CL E G H	427	735	ORPHA:333	Farber disease	HP:0040284 - Very rare		78
HP:0000496	HP:0025405	Visual fixation instability	2	ASAH1 CL E G H	427	735	ORPHA:333	Farber disease	HP:0040283 - Occasional		78
HP:0000496	HP:0000486	Strabismus	2	ASCL1 CL E G H	429	738	ORPHA:99803	Haddad syndrome	HP:0040281 - Very frequent		15
HP:0000496	HP:0000486	Strabismus	2	ASH1L CL E G H	55870	19088	OMIM:617796	Mental retardation, autosomal dominant 52			1
HP:0000496	HP:0000639	Nystagmus	2	ASH1L CL E G H	55870	19088	OMIM:617796	Mental retardation, autosomal dominant 52			1
HP:0000496	HP:0000639	Nystagmus	2	ASPA CL E G H	443	756	OMIM:271900	Canavan disease			48
HP:0000496	HP:0025405	Visual fixation instability	2	ASPA CL E G H	443	756	ORPHA:314911	Severe Canavan disease	HP:0040281 - Very frequent		48
HP:0000496	HP:0000486	Strabismus	2	ASXL1 CL E G H	171023	18318	OMIM:605039	Bohring-Opitz syndrome	.		145
HP:0000496	HP:0000486	Strabismus	2	ASXL3 CL E G H	80816	29357	ORPHA:352577	Bainbridge-Ropers syndrome	HP:0040282 - Frequent		49
HP:0000496	HP:0000486	Strabismus	2	ASXL3 CL E G H	80816	29357	OMIM:615485	BAINBRIDGE-ROPERS SYNDROME; BRPS			49
HP:0000496	HP:0000486	Strabismus	2	ATAD3A CL E G H	55210	25567	OMIM:617183	Harel-Yoon syndrome			5
HP:0000496	HP:0000639	Nystagmus	2	ATAD3A CL E G H	55210	25567	OMIM:617183	Harel-Yoon syndrome	.		5
HP:0000496	HP:0000486	Strabismus	2	ATAD3A CL E G H	55210	25567	ORPHA:496790	Ocular anomalies-axonal neuropathy-developmental delay syndrome			5
HP:0000496	HP:0000639	Nystagmus	2	ATAD3A CL E G H	55210	25567	ORPHA:496790	Ocular anomalies-axonal neuropathy-developmental delay syndrome	HP:0040283 - Occasional		5
HP:0000496	HP:0000639	Nystagmus	2	ATCAY CL E G H	85300	779	OMIM:601238	Cerebellar ataxia, Cayman type	.		72
HP:0000496	HP:0000639	Nystagmus	2	ATCAY CL E G H	85300	779	ORPHA:94122	Cerebellar ataxia, Cayman type	HP:0040282 - Frequent		72
HP:0000496	HP:0000639	Nystagmus	2	ATF6 CL E G H	22926	791	ORPHA:49382	Achromatopsia			10
HP:0000496	HP:0025549	Eccentric visual fixation	2	ATF6 CL E G H	22926	791	ORPHA:49382	Achromatopsia	HP:0040283 - Occasional		10
HP:0000496	HP:0000639	Nystagmus	2	ATF6 CL E G H	22926	791	OMIM:616517	ACHROMATOPSIA 7; ACHM7			10
HP:0000496	HP:0000639	Nystagmus	2	ATG5 CL E G H	9474	589	OMIM:617584	Spinocerebellar ataxia, autosomal recessive 25	.		1
HP:0000496	HP:0000486	Strabismus	2	ATG7 CL E G H	10533	16935	OMIM:619422	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 31; SCAR31			1
HP:0000496	HP:0000602	Ophthalmoplegia	2	ATG7 CL E G H	10533	16935	OMIM:619422	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 31; SCAR31			1
HP:0000496	HP:0000486	Strabismus	2	ATM CL E G H	472	795	ORPHA:100	Ataxia-telangiectasia	HP:0040281 - Very frequent		3267
HP:0000496	HP:0000486	Strabismus	2	ATM CL E G H	472	795	OMIM:208900	ATAXIA-TELANGIECTASIA	.		3267
HP:0000496	HP:0000639	Nystagmus	2	ATM CL E G H	472	795	ORPHA:100	Ataxia-telangiectasia	HP:0040281 - Very frequent		3267
HP:0000496	HP:0000639	Nystagmus	2	ATM CL E G H	472	795	OMIM:208900	ATAXIA-TELANGIECTASIA	.		3267
HP:0000496	HP:0000639	Nystagmus	2	ATN1 CL E G H	1822	3033	ORPHA:101	Dentatorubral pallidoluysian atrophy	HP:0040282 - Frequent		16
HP:0000496	HP:0001152	Saccadic smooth pursuit	2	ATN1 CL E G H	1822	3033	ORPHA:101	Dentatorubral pallidoluysian atrophy	HP:0040282 - Frequent		16
HP:0000496	HP:0000486	Strabismus	2	ATOH7 CL E G H	220202	13907	ORPHA:91495	Persistent hyperplastic primary vitreous			4
HP:0000496	HP:0000486	Strabismus	2	ATOH7 CL E G H	220202	13907	OMIM:221900	Persistent hyperplastic primary vitreous, autosomal recessive			4
HP:0000496	HP:0000639	Nystagmus	2	ATOH7 CL E G H	220202	13907	OMIM:221900	Persistent hyperplastic primary vitreous, autosomal recessive			4
HP:0000496	HP:0000605	Supranuclear gaze palsy	2	ATP13A2 CL E G H	23400	30213	ORPHA:314632	ATP13A2-related juvenile neuronal ceroid lipofuscinosis			100
HP:0000496	HP:0000486	Strabismus	2	ATP13A2 CL E G H	23400	30213	ORPHA:513436	Autosomal recessive spastic paraplegia type 78	HP:0040281 - Very frequent		100
HP:0000496	HP:0000605	Supranuclear gaze palsy	2	ATP13A2 CL E G H	23400	30213	ORPHA:513436	Autosomal recessive spastic paraplegia type 78	HP:0040282 - Frequent		100
HP:0000496	HP:0000639	Nystagmus	2	ATP13A2 CL E G H	23400	30213	ORPHA:513436	Autosomal recessive spastic paraplegia type 78			100
HP:0000496	HP:0000514	Slow saccadic eye movements	2	ATP13A2 CL E G H	23400	30213	ORPHA:306674	Kufor-Rakeb syndrome	HP:0040281 - Very frequent		100
HP:0000496	HP:0000514	Slow saccadic eye movements	2	ATP13A2 CL E G H	23400	30213	OMIM:606693	Kufor-Rakeb syndrome			100
HP:0000496	HP:0000605	Supranuclear gaze palsy	2	ATP13A2 CL E G H	23400	30213	OMIM:606693	Kufor-Rakeb syndrome			100
HP:0000496	HP:0000605	Supranuclear gaze palsy	2	ATP13A2 CL E G H	23400	30213	ORPHA:306674	Kufor-Rakeb syndrome	HP:0040281 - Very frequent		100
HP:0000496	HP:0000639	Nystagmus	2	ATP13A2 CL E G H	23400	30213	ORPHA:306674	Kufor-Rakeb syndrome	HP:0040283 - Occasional		100
HP:0000496	HP:0000486	Strabismus	2	ATP13A2 CL E G H	23400	30213	OMIM:617225	SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE; SPG78			100
HP:0000496	HP:0000605	Supranuclear gaze palsy	2	ATP13A2 CL E G H	23400	30213	OMIM:617225	SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE; SPG78			100
HP:0000496	HP:0000639	Nystagmus	2	ATP13A2 CL E G H	23400	30213	OMIM:617225	SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE; SPG78			100
HP:0000496	HP:0000486	Strabismus	2	ATP1A2 CL E G H	477	800	ORPHA:2131	Alternating hemiplegia of childhood			239
HP:0000496	HP:0000639	Nystagmus	2	ATP1A2 CL E G H	477	800	ORPHA:2131	Alternating hemiplegia of childhood	HP:0040282 - Frequent		239
HP:0000496	HP:0031931	Ocular flutter	2	ATP1A2 CL E G H	477	800	ORPHA:2131	Alternating hemiplegia of childhood	HP:0040283 - Occasional		239
HP:0000496	HP:0032104	Saccadic oscillation	2	ATP1A2 CL E G H	477	800	ORPHA:2131	Alternating hemiplegia of childhood			239
HP:0000496	HP:0000639	Nystagmus	2	ATP1A2 CL E G H	477	800	OMIM:104290	Alternating hemiplegia of childhood 1	.		239
HP:0000496	HP:0000639	Nystagmus	2	ATP1A2 CL E G H	477	800	ORPHA:569	Familial or sporadic hemiplegic migraine			239
HP:0000496	HP:0000639	Nystagmus	2	ATP1A2 CL E G H	477	800	OMIM:602481	Migraine, familial hemiplegic, 2			239
HP:0000496	HP:0000639	Nystagmus	2	ATP1A2 CL E G H	477	800	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		239
HP:0000496	HP:0000486	Strabismus	2	ATP1A3 CL E G H	478	801	ORPHA:2131	Alternating hemiplegia of childhood			150
HP:0000496	HP:0000639	Nystagmus	2	ATP1A3 CL E G H	478	801	ORPHA:2131	Alternating hemiplegia of childhood	HP:0040282 - Frequent		150
HP:0000496	HP:0031931	Ocular flutter	2	ATP1A3 CL E G H	478	801	ORPHA:2131	Alternating hemiplegia of childhood	HP:0040283 - Occasional		150
HP:0000496	HP:0032104	Saccadic oscillation	2	ATP1A3 CL E G H	478	801	ORPHA:2131	Alternating hemiplegia of childhood			150
HP:0000496	HP:0000639	Nystagmus	2	ATP1A3 CL E G H	478	801	OMIM:614820	Alternating hemiplegia of childhood 2	.		150
HP:0000496	HP:0000639	Nystagmus	2	ATP1A3 CL E G H	478	801	OMIM:601338	Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss	.		150
HP:0000496	HP:0000486	Strabismus	2	ATP1A3 CL E G H	478	801	OMIM:619606	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 99; DEE99			150
HP:0000496	HP:0000639	Nystagmus	2	ATP1A3 CL E G H	478	801	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		150
HP:0000496	HP:0000486	Strabismus	2	ATP2B3 CL E G H	492	816	OMIM:302500	Spinocerebellar ataxia, X-linked 1	.		19
HP:0000496	HP:0000514	Slow saccadic eye movements	2	ATP2B3 CL E G H	492	816	OMIM:302500	Spinocerebellar ataxia, X-linked 1	.		19
HP:0000496	HP:0000639	Nystagmus	2	ATP2B3 CL E G H	492	816	OMIM:302500	Spinocerebellar ataxia, X-linked 1	.		19
HP:0000496	HP:0000486	Strabismus	2	ATP2B3 CL E G H	492	816	ORPHA:314978	X-linked non progressive cerebellar ataxia	HP:0040282 - Frequent		19
HP:0000496	HP:0001152	Saccadic smooth pursuit	2	ATP2B3 CL E G H	492	816	ORPHA:314978	X-linked non progressive cerebellar ataxia	HP:0040282 - Frequent		19
HP:0000496	HP:0000639	Nystagmus	2	ATP5F1A CL E G H	498	823	OMIM:615228	Mitochondrial complex V (atp synthase) deficiency, nuclear type 4	.
HP:0000496	HP:0000602	Ophthalmoplegia	2	ATP5MK CL E G H	84833	30889	OMIM:618683	MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 6; MC5DN6
HP:0000496	HP:0000639	Nystagmus	2	ATP6 CL E G H	4508	7414	ORPHA:225154	Familial infantile bilateral striatal necrosis
HP:0000496	HP:0000639	Nystagmus	2	ATP6 CL E G H	4508	7414	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0000496	HP:0000639	Nystagmus	2	ATP6 CL E G H	4508	7414	ORPHA:644	NARP syndrome	HP:0040282 - Frequent
HP:0000496	HP:0000639	Nystagmus	2	ATP6 CL E G H	4508	7414	OMIM:551500	Neuropathy, ataxia, and retinitis pigmentosa	.
HP:0000496	HP:0000486	Strabismus	2	ATP6V0A2 CL E G H	23545	18481	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type	HP:0040282 - Frequent		140
HP:0000496	HP:0000486	Strabismus	2	ATP6V0A2 CL E G H	23545	18481	OMIM:219200	Cutis laxa, autosomal recessive, type IIA	.		140
HP:0000496	HP:0000486	Strabismus	2	ATP6V1A CL E G H	523	851	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type	HP:0040282 - Frequent		3
HP:0000496	HP:0000639	Nystagmus	2	ATP6V1A CL E G H	523	851	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		3
HP:0000496	HP:0000486	Strabismus	2	ATP6V1B2 CL E G H	526	854	ORPHA:79500	DOORS syndrome	HP:0040284 - Very rare		5
HP:0000496	HP:0000639	Nystagmus	2	ATP6V1B2 CL E G H	526	854	ORPHA:79500	DOORS syndrome			5
HP:0000496	HP:0000486	Strabismus	2	ATP6V1E1 CL E G H	529	857	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type	HP:0040282 - Frequent		2
HP:0000496	HP:0000639	Nystagmus	2	ATP6V1E1 CL E G H	529	857	OMIM:617402	Cutis laxa, autosomal recessive, type IIC	.		2
HP:0000496	HP:0000602	Ophthalmoplegia	2	ATP8 CL E G H	4509	7415	ORPHA:480	Kearns-Sayre syndrome
HP:0000496	HP:0000486	Strabismus	2	ATP8A2 CL E G H	51761	13533	ORPHA:1766	Dysequilibrium syndrome	HP:0040282 - Frequent		24
HP:0000496	HP:0000486	Strabismus	2	ATR CL E G H	545	882	OMIM:210600	Seckel syndrome 1	.		168
HP:0000496	HP:0000486	Strabismus	2	ATRX CL E G H	546	886	OMIM:309580	Mental retardation-hypotonic facies syndrome, X-linked, 1			169
HP:0000496	HP:0000514	Slow saccadic eye movements	2	ATXN1 CL E G H	6310	10548	OMIM:164400	Spinocerebellar ataxia 1	.		19
HP:0000496	HP:0000602	Ophthalmoplegia	2	ATXN1 CL E G H	6310	10548	OMIM:164400	Spinocerebellar ataxia 1			19
HP:0000496	HP:0000639	Nystagmus	2	ATXN1 CL E G H	6310	10548	OMIM:164400	Spinocerebellar ataxia 1	.		19
HP:0000496	HP:0000641	Dysmetric saccades	2	ATXN1 CL E G H	6310	10548	OMIM:164400	Spinocerebellar ataxia 1	.		19
HP:0000496	HP:0007772	Impaired smooth pursuit	2	ATXN1 CL E G H	6310	10548	OMIM:164400	Spinocerebellar ataxia 1			19
HP:0000496	HP:0000514	Slow saccadic eye movements	2	ATXN1 CL E G H	6310	10548	ORPHA:98755	Spinocerebellar ataxia type 1	HP:0040282 - Frequent		19
HP:0000496	HP:0000605	Supranuclear gaze palsy	2	ATXN1 CL E G H	6310	10548	ORPHA:98755	Spinocerebellar ataxia type 1			19
HP:0000496	HP:0000639	Nystagmus	2	ATXN1 CL E G H	6310	10548	ORPHA:98755	Spinocerebellar ataxia type 1	HP:0040283 - Occasional		19
HP:0000496	HP:0007338	Hypermetric saccades	2	ATXN1 CL E G H	6310	10548	ORPHA:98755	Spinocerebellar ataxia type 1	HP:0040283 - Occasional		19
HP:0000496	HP:0000639	Nystagmus	2	ATXN10 CL E G H	25814	10549	OMIM:603516	Spinocerebellar ataxia 10	.		9
HP:0000496	HP:0007772	Impaired smooth pursuit	2	ATXN10 CL E G H	25814	10549	OMIM:603516	Spinocerebellar ataxia 10			9
HP:0000496	HP:0000639	Nystagmus	2	ATXN10 CL E G H	25814	10549	ORPHA:98761	Spinocerebellar ataxia type 10	HP:0040282 - Frequent		9
HP:0000496	HP:0007772	Impaired smooth pursuit	2	ATXN10 CL E G H	25814	10549	ORPHA:98761	Spinocerebellar ataxia type 10	HP:0040282 - Frequent		9
HP:0000496	HP:0000514	Slow saccadic eye movements	2	ATXN2 CL E G H	6311	10555	OMIM:183090	Spinocerebellar ataxia 2	.		11
HP:0000496	HP:0000602	Ophthalmoplegia	2	ATXN2 CL E G H	6311	10555	OMIM:183090	Spinocerebellar ataxia 2	.		11
HP:0000496	HP:0000639	Nystagmus	2	ATXN2 CL E G H	6311	10555	OMIM:183090	Spinocerebellar ataxia 2			11
HP:0000496	HP:0000641	Dysmetric saccades	2	ATXN2 CL E G H	6311	10555	OMIM:183090	Spinocerebellar ataxia 2	.		11
HP:0000496	HP:0007772	Impaired smooth pursuit	2	ATXN2 CL E G H	6311	10555	OMIM:183090	Spinocerebellar ataxia 2			11
HP:0000496	HP:0000514	Slow saccadic eye movements	2	ATXN2 CL E G H	6311	10555	ORPHA:98756	Spinocerebellar ataxia type 2	HP:0040282 - Frequent		11
HP:0000496	HP:0000602	Ophthalmoplegia	2	ATXN2 CL E G H	6311	10555	ORPHA:98756	Spinocerebellar ataxia type 2			11
HP:0000496	HP:0000639	Nystagmus	2	ATXN2 CL E G H	6311	10555	ORPHA:98756	Spinocerebellar ataxia type 2	HP:0040282 - Frequent		11
HP:0000496	HP:0000602	Ophthalmoplegia	2	ATXN3 CL E G H	4287	7106	OMIM:109150	Machado-Joseph disease			14
HP:0000496	HP:0000639	Nystagmus	2	ATXN3 CL E G H	4287	7106	OMIM:109150	Machado-Joseph disease			14
HP:0000496	HP:0000641	Dysmetric saccades	2	ATXN3 CL E G H	4287	7106	OMIM:109150	Machado-Joseph disease	.		14
HP:0000496	HP:0007772	Impaired smooth pursuit	2	ATXN3 CL E G H	4287	7106	OMIM:109150	Machado-Joseph disease			14
HP:0000496	HP:0000602	Ophthalmoplegia	2	ATXN3 CL E G H	4287	7106	ORPHA:276238	Machado-Joseph disease type 1			14
HP:0000496	HP:0000639	Nystagmus	2	ATXN3 CL E G H	4287	7106	ORPHA:276238	Machado-Joseph disease type 1			14
HP:0000496	HP:0000602	Ophthalmoplegia	2	ATXN3 CL E G H	4287	7106	ORPHA:276241	Machado-Joseph disease type 2			14
HP:0000496	HP:0000639	Nystagmus	2	ATXN3 CL E G H	4287	7106	ORPHA:276241	Machado-Joseph disease type 2			14
HP:0000496	HP:0000602	Ophthalmoplegia	2	ATXN3 CL E G H	4287	7106	ORPHA:276244	Machado-Joseph disease type 3			14
HP:0000496	HP:0000639	Nystagmus	2	ATXN3 CL E G H	4287	7106	ORPHA:276244	Machado-Joseph disease type 3			14
HP:0000496	HP:0000514	Slow saccadic eye movements	2	ATXN7 CL E G H	6314	10560	OMIM:164500	Spinocerebellar ataxia 7 opca III opca with retinal degeneration opca with macular degeneration and external ophthalmoplegia autosomal dominant cerebellar ataxia, type II adca, type II	.		8
HP:0000496	HP:0000602	Ophthalmoplegia	2	ATXN7 CL E G H	6314	10560	OMIM:164500	Spinocerebellar ataxia 7 opca III opca with retinal degeneration opca with macular degeneration and external ophthalmoplegia autosomal dominant cerebellar ataxia, type II adca, type II			8
HP:0000496	HP:0000639	Nystagmus	2	ATXN7 CL E G H	6314	10560	OMIM:164500	Spinocerebellar ataxia 7 opca III opca with retinal degeneration opca with macular degeneration and external ophthalmoplegia autosomal dominant cerebellar ataxia, type II adca, type II			8
HP:0000496	HP:0000602	Ophthalmoplegia	2	ATXN7 CL E G H	6314	10560	ORPHA:94147	Spinocerebellar ataxia type 7	HP:0040282 - Frequent		8
HP:0000496	HP:0000639	Nystagmus	2	ATXN7 CL E G H	6314	10560	ORPHA:94147	Spinocerebellar ataxia type 7	HP:0040282 - Frequent		8
HP:0000496	HP:0000514	Slow saccadic eye movements	2	ATXN8 CL E G H	724066	32925	OMIM:608768	Spinocerebellar ataxia 8	.		1
HP:0000496	HP:0000639	Nystagmus	2	ATXN8 CL E G H	724066	32925	OMIM:608768	Spinocerebellar ataxia 8	.		1
HP:0000496	HP:0000641	Dysmetric saccades	2	ATXN8 CL E G H	724066	32925	OMIM:608768	Spinocerebellar ataxia 8	.		1
HP:0000496	HP:0007772	Impaired smooth pursuit	2	ATXN8 CL E G H	724066	32925	OMIM:608768	Spinocerebellar ataxia 8	.		1
HP:0000496	HP:0000639	Nystagmus	2	ATXN8 CL E G H	724066	32925	ORPHA:98760	Spinocerebellar ataxia type 8	HP:0040282 - Frequent		1
HP:0000496	HP:0007772	Impaired smooth pursuit	2	ATXN8 CL E G H	724066	32925	ORPHA:98760	Spinocerebellar ataxia type 8	HP:0040283 - Occasional		1
HP:0000496	HP:0000514	Slow saccadic eye movements	2	ATXN8OS CL E G H	6315	10561	OMIM:608768	Spinocerebellar ataxia 8	.		1
HP:0000496	HP:0000639	Nystagmus	2	ATXN8OS CL E G H	6315	10561	OMIM:608768	Spinocerebellar ataxia 8	.		1
HP:0000496	HP:0000641	Dysmetric saccades	2	ATXN8OS CL E G H	6315	10561	OMIM:608768	Spinocerebellar ataxia 8	.		1
HP:0000496	HP:0007772	Impaired smooth pursuit	2	ATXN8OS CL E G H	6315	10561	OMIM:608768	Spinocerebellar ataxia 8	.		1
HP:0000496	HP:0000639	Nystagmus	2	ATXN8OS CL E G H	6315	10561	ORPHA:98760	Spinocerebellar ataxia type 8	HP:0040282 - Frequent		1
HP:0000496	HP:0007772	Impaired smooth pursuit	2	ATXN8OS CL E G H	6315	10561	ORPHA:98760	Spinocerebellar ataxia type 8	HP:0040283 - Occasional		1
HP:0000496	HP:0000486	Strabismus	2	AUTS2 CL E G H	26053	14262	ORPHA:352490	Autism spectrum disorder due to AUTS2 deficiency	HP:0040282 - Frequent		61
HP:0000496	HP:0000486	Strabismus	2	AUTS2 CL E G H	26053	14262	OMIM:615834	Mental retardation, autosomal dominant 26	.		61
HP:0000496	HP:0000486	Strabismus	2	B3GALNT2 CL E G H	148789	28596	ORPHA:588	Muscle-eye-brain disease	HP:0040281 - Very frequent		43
HP:0000496	HP:0000486	Strabismus	2	B3GAT3 CL E G H	26229	923	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects			5
HP:0000496	HP:0000639	Nystagmus	2	B3GLCT CL E G H	145173	20207	ORPHA:709	Peters plus syndrome	HP:0040282 - Frequent		36
HP:0000496	HP:0000639	Nystagmus	2	B3GLCT CL E G H	145173	20207	OMIM:261540	Peters-Plus syndrome	.		36
HP:0000496	HP:0000639	Nystagmus	2	B4GALNT1 CL E G H	2583	4117	OMIM:609195	Spastic paraplegia 26, autosomal recessive	HP:0040283 - Occasional		25
HP:0000496	HP:0000486	Strabismus	2	B9D1 CL E G H	27077	24123	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional		28
HP:0000496	HP:0000639	Nystagmus	2	B9D1 CL E G H	27077	24123	ORPHA:475	Joubert syndrome	HP:0040282 - Frequent		28
HP:0000496	HP:0000639	Nystagmus	2	B9D1 CL E G H	27077	24123	OMIM:617120	Joubert syndrome 27	.		28
HP:0000496	HP:0000486	Strabismus	2	B9D2 CL E G H	80776	28636	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional		34
HP:0000496	HP:0000639	Nystagmus	2	B9D2 CL E G H	80776	28636	ORPHA:475	Joubert syndrome	HP:0040282 - Frequent		34
HP:0000496	HP:0000486	Strabismus	2	BAP1 CL E G H	8314	950	OMIM:619762	KURY-ISIDOR SYNDROME; KURIS			184
HP:0000496	HP:0000602	Ophthalmoplegia	2	BAP1 CL E G H	8314	950	ORPHA:2495	Meningioma	HP:0040283 - Occasional		184
HP:0000496	HP:0007715	Weak extraocular muscles	2	BAP1 CL E G H	8314	950	ORPHA:2495	Meningioma	HP:0040283 - Occasional		184
HP:0000496	HP:0012246	Oculomotor nerve palsy	2	BAP1 CL E G H	8314	950	ORPHA:2495	Meningioma	HP:0040283 - Occasional		184
HP:0000496	HP:0000486	Strabismus	2	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0000496	HP:0000639	Nystagmus	2	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome
HP:0000496	HP:0000639	Nystagmus	2	BBIP1 CL E G H	92482	28093	ORPHA:110	Bardet-Biedl syndrome	HP:0040282 - Frequent		1
HP:0000496	HP:0000639	Nystagmus	2	BBS1 CL E G H	582	966	ORPHA:110	Bardet-Biedl syndrome	HP:0040282 - Frequent		114
HP:0000496	HP:0000486	Strabismus	2	BBS1 CL E G H	582	966	OMIM:209900	Bardet-Biedl syndrome 1	.		114
HP:0000496	HP:0000639	Nystagmus	2	BBS1 CL E G H	582	966	OMIM:209900	Bardet-Biedl syndrome 1	.		114
HP:0000496	HP:0000602	Ophthalmoplegia	2	BBS1 CL E G H	582	966	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		114
HP:0000496	HP:0000639	Nystagmus	2	BBS1 CL E G H	582	966	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		114
HP:0000496	HP:0000639	Nystagmus	2	BBS10 CL E G H	79738	26291	ORPHA:110	Bardet-Biedl syndrome	HP:0040282 - Frequent		118
HP:0000496	HP:0000639	Nystagmus	2	BBS12 CL E G H	166379	26648	ORPHA:110	Bardet-Biedl syndrome	HP:0040282 - Frequent		71
HP:0000496	HP:0000639	Nystagmus	2	BBS2 CL E G H	583	967	ORPHA:110	Bardet-Biedl syndrome	HP:0040282 - Frequent		97
HP:0000496	HP:0000602	Ophthalmoplegia	2	BBS2 CL E G H	583	967	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		97
HP:0000496	HP:0000639	Nystagmus	2	BBS2 CL E G H	583	967	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		97
HP:0000496	HP:0000639	Nystagmus	2	BBS4 CL E G H	585	969	ORPHA:110	Bardet-Biedl syndrome	HP:0040282 - Frequent		87
HP:0000496	HP:0000639	Nystagmus	2	BBS5 CL E G H	129880	970	ORPHA:110	Bardet-Biedl syndrome	HP:0040282 - Frequent		25
HP:0000496	HP:0000639	Nystagmus	2	BBS7 CL E G H	55212	18758	ORPHA:110	Bardet-Biedl syndrome	HP:0040282 - Frequent		66
HP:0000496	HP:0000639	Nystagmus	2	BBS9 CL E G H	27241	30000	ORPHA:110	Bardet-Biedl syndrome	HP:0040282 - Frequent		119
HP:0000496	HP:0000486	Strabismus	2	BBS9 CL E G H	27241	30000	OMIM:615986	BARDET-BIEDL SYNDROME 9; BBS9			119
HP:0000496	HP:0000486	Strabismus	2	BCAP31 CL E G H	10134	16695	OMIM:300475	Deafness, dystonia, and cerebral hypomyelination	.		8
HP:0000496	HP:0000486	Strabismus	2	BCAP31 CL E G H	10134	16695	ORPHA:369939	Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome	HP:0040282 - Frequent		8
HP:0000496	HP:0000486	Strabismus	2	BCAS3 CL E G H	54828	14347	OMIM:619641	HENGEL-MAROOFIAN-SCHOLS SYNDROME; HEMARS			2
HP:0000496	HP:0000639	Nystagmus	2	BCAS3 CL E G H	54828	14347	OMIM:619641	HENGEL-MAROOFIAN-SCHOLS SYNDROME; HEMARS			2
HP:0000496	HP:0000486	Strabismus	2	BCL11A CL E G H	53335	13221	OMIM:617101	Intellectual developmental disorder with persistence of fetal hemoglobin	.		11
HP:0000496	HP:0000486	Strabismus	2	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0000496	HP:0000639	Nystagmus	2	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome
HP:0000496	HP:0000639	Nystagmus	2	BCOR CL E G H	54880	20893	ORPHA:568	Microphthalmia, Lenz type	HP:0040283 - Occasional		101
HP:0000496	HP:0000486	Strabismus	2	BCOR CL E G H	54880	20893	OMIM:300166	Microphthalmia, syndromic 2			101
HP:0000496	HP:0000486	Strabismus	2	BCORL1 CL E G H	63035	25657	OMIM:301029	Shukla-Vernon syndrome	.		17
HP:0000496	HP:0000639	Nystagmus	2	BDNF CL E G H	627	1033	ORPHA:893	WAGR syndrome	HP:0040282 - Frequent		5
HP:0000496	HP:0000639	Nystagmus	2	BEAN1 CL E G H	146227	24160	OMIM:117210	Spinocerebellar ataxia 31	.		1
HP:0000496	HP:0000639	Nystagmus	2	BEAN1 CL E G H	146227	24160	ORPHA:217012	Spinocerebellar ataxia type 31	HP:0040282 - Frequent		1
HP:0000496	HP:0000486	Strabismus	2	BEST1 CL E G H	7439	12703	ORPHA:35612	Nanophthalmos	HP:0040281 - Very frequent		182
HP:0000496	HP:0000602	Ophthalmoplegia	2	BEST1 CL E G H	7439	12703	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		182
HP:0000496	HP:0000639	Nystagmus	2	BEST1 CL E G H	7439	12703	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		182
HP:0000496	HP:0000486	Strabismus	2	BEST1 CL E G H	7439	12703	OMIM:193220	VITREORETINOCHOROIDOPATHY	.		182
HP:0000496	HP:0000639	Nystagmus	2	BEST1 CL E G H	7439	12703	OMIM:193220	VITREORETINOCHOROIDOPATHY	.		182
HP:0000496	HP:0000486	Strabismus	2	BICRA CL E G H	29998	4332	OMIM:619325	COFFIN-SIRIS SYNDROME 12; CSS12			2
HP:0000496	HP:0000602	Ophthalmoplegia	2	BIN1 CL E G H	274	1052	ORPHA:169189	Autosomal dominant centronuclear myopathy			99
HP:0000496	HP:0000602	Ophthalmoplegia	2	BIN1 CL E G H	274	1052	ORPHA:169186	Autosomal recessive centronuclear myopathy	HP:0040283 - Occasional		99
HP:0000496	HP:0000602	Ophthalmoplegia	2	BIN1 CL E G H	274	1052	OMIM:255200	Myopathy, centronuclear, 2	.		99
HP:0000496	HP:0000486	Strabismus	2	BLOC1S3 CL E G H	388552	20914	OMIM:614077	Hermansky-Pudlak syndrome 8			42
HP:0000496	HP:0000639	Nystagmus	2	BLOC1S3 CL E G H	388552	20914	OMIM:614077	Hermansky-Pudlak syndrome 8			42
HP:0000496	HP:0000486	Strabismus	2	BLOC1S5 CL E G H	63915	18561	OMIM:619172	HERMANSKY-PUDLAK SYNDROME 11; HPS11
HP:0000496	HP:0000639	Nystagmus	2	BLOC1S5 CL E G H	63915	18561	OMIM:619172	HERMANSKY-PUDLAK SYNDROME 11; HPS11
HP:0000496	HP:0000639	Nystagmus	2	BLOC1S6 CL E G H	26258	8549	OMIM:614171	Hermansky-Pudlak syndrome 9	.	HP:0003577 - Congenital onset	35
HP:0000496	HP:0000486	Strabismus	2	BLTP1 CL E G H	84162	26953	OMIM:617822	Alkuraya-Kucinskas syndrome	.
HP:0000496	HP:0000639	Nystagmus	2	BMP4 CL E G H	652	1071	ORPHA:139471	Microphthalmia with brain and digit anomalies	HP:0040283 - Occasional		38
HP:0000496	HP:0000639	Nystagmus	2	BMP4 CL E G H	652	1071	OMIM:607932	Microphthalmia, syndromic 6			38
HP:0000496	HP:0000486	Strabismus	2	BPTF CL E G H	2186	3581	OMIM:617755	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES; NEDDFL			2
HP:0000496	HP:0000486	Strabismus	2	BRAF CL E G H	673	1097	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040282 - Frequent		276
HP:0000496	HP:0000639	Nystagmus	2	BRAF CL E G H	673	1097	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040282 - Frequent		276
HP:0000496	HP:0000486	Strabismus	2	BRAF CL E G H	673	1097	OMIM:115150	Cardiofaciocutaneous syndrome 1			276
HP:0000496	HP:0000639	Nystagmus	2	BRAF CL E G H	673	1097	OMIM:115150	Cardiofaciocutaneous syndrome 1			276
HP:0000496	HP:0000486	Strabismus	2	BRAF CL E G H	673	1097	OMIM:613706	Noonan syndrome 7			276
HP:0000496	HP:0000639	Nystagmus	2	BRAT1 CL E G H	221927	21701	OMIM:618056	Neurodevelopmental disorder with cerebellar atrophy and with or without seizures	.		20
HP:0000496	HP:0000486	Strabismus	2	BRCA1 CL E G H	672	1100	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		5769
HP:0000496	HP:0000639	Nystagmus	2	BRCA1 CL E G H	672	1100	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		5769
HP:0000496	HP:0000486	Strabismus	2	BRCA2 CL E G H	675	1101	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		7642
HP:0000496	HP:0000639	Nystagmus	2	BRCA2 CL E G H	675	1101	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		7642
HP:0000496	HP:0000486	Strabismus	2	BRD4 CL E G H	23476	13575	ORPHA:199	Cornelia de Lange syndrome	HP:0040283 - Occasional
HP:0000496	HP:0000639	Nystagmus	2	BRD4 CL E G H	23476	13575	ORPHA:199	Cornelia de Lange syndrome	HP:0040283 - Occasional
HP:0000496	HP:0000486	Strabismus	2	BRF1 CL E G H	2972	11551	ORPHA:444072	Cerebellar-facial-dental syndrome	HP:0040283 - Occasional		7
HP:0000496	HP:0000486	Strabismus	2	BRF1 CL E G H	2972	11551	OMIM:616202	Cerebellofaciodental syndrome			7
HP:0000496	HP:0000486	Strabismus	2	BRIP1 CL E G H	83990	20473	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		1086
HP:0000496	HP:0000639	Nystagmus	2	BRIP1 CL E G H	83990	20473	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		1086
HP:0000496	HP:0000486	Strabismus	2	BRPF1 CL E G H	7862	14255	OMIM:617333	Intellectual developmental disorder with dysmorphic facies and ptosis	.		10
HP:0000496	HP:0000639	Nystagmus	2	BUB1B CL E G H	701	1149	OMIM:257300	Mosaic variegated aneuploidy syndrome 1	.		76
HP:0000496	HP:0000486	Strabismus	2	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0000496	HP:0000639	Nystagmus	2	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome
HP:0000496	HP:0000602	Ophthalmoplegia	2	C1QBP CL E G H	708	1243	OMIM:617713	Combined oxidative phosphorylation deficiency 33
HP:0000496	HP:0000605	Supranuclear gaze palsy	2	C9ORF72 CL E G H	203228	28337	OMIM:105550	Amyotrophic lateral sclerosis and/or frontotemporal dementia 1	HP:0040283 - Occasional		56
HP:0000496	HP:0000605	Supranuclear gaze palsy	2	C9ORF72 CL E G H	203228	28337	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040283 - Occasional		56
HP:0000496	HP:0000602	Ophthalmoplegia	2	CA4 CL E G H	762	1375	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		23
HP:0000496	HP:0000639	Nystagmus	2	CA4 CL E G H	762	1375	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		23
HP:0000496	HP:0000486	Strabismus	2	CA8 CL E G H	767	1382	OMIM:613227	Cerebellar ataxia, mental retardation, and dysequilibrium syndrome3	.		8
HP:0000496	HP:0000486	Strabismus	2	CA8 CL E G H	767	1382	ORPHA:1766	Dysequilibrium syndrome	HP:0040282 - Frequent		8
HP:0000496	HP:0000486	Strabismus	2	CABP4 CL E G H	57010	1386	OMIM:610427	Cone-Rod synaptic disorder, congenital nonprogressive	HP:0040283 - Occasional		94
HP:0000496	HP:0000639	Nystagmus	2	CABP4 CL E G H	57010	1386	OMIM:610427	Cone-Rod synaptic disorder, congenital nonprogressive			94
HP:0000496	HP:0000486	Strabismus	2	CABP4 CL E G H	57010	1386	ORPHA:215	Congenital stationary night blindness	HP:0040282 - Frequent		94
HP:0000496	HP:0000639	Nystagmus	2	CABP4 CL E G H	57010	1386	ORPHA:215	Congenital stationary night blindness	HP:0040282 - Frequent		94
HP:0000496	HP:0000486	Strabismus	2	CACNA1A CL E G H	773	1388	ORPHA:2131	Alternating hemiplegia of childhood			449
HP:0000496	HP:0000639	Nystagmus	2	CACNA1A CL E G H	773	1388	ORPHA:2131	Alternating hemiplegia of childhood	HP:0040282 - Frequent		449
HP:0000496	HP:0031931	Ocular flutter	2	CACNA1A CL E G H	773	1388	ORPHA:2131	Alternating hemiplegia of childhood	HP:0040283 - Occasional		449
HP:0000496	HP:0032104	Saccadic oscillation	2	CACNA1A CL E G H	773	1388	ORPHA:2131	Alternating hemiplegia of childhood			449
HP:0000496	HP:0000486	Strabismus	2	CACNA1A CL E G H	773	1388	OMIM:617106	Epileptic encephalopathy, early infantile, 42	.		449
HP:0000496	HP:0000639	Nystagmus	2	CACNA1A CL E G H	773	1388	OMIM:617106	Epileptic encephalopathy, early infantile, 42	.		449
HP:0000496	HP:0000639	Nystagmus	2	CACNA1A CL E G H	773	1388	OMIM:108500	Episodic ataxia, type 2			449
HP:0000496	HP:0001152	Saccadic smooth pursuit	2	CACNA1A CL E G H	773	1388	OMIM:108500	Episodic ataxia, type 2	.		449
HP:0000496	HP:0000639	Nystagmus	2	CACNA1A CL E G H	773	1388	ORPHA:569	Familial or sporadic hemiplegic migraine			449
HP:0000496	HP:0000639	Nystagmus	2	CACNA1A CL E G H	773	1388	ORPHA:97	Familial paroxysmal ataxia	HP:0040281 - Very frequent		449
HP:0000496	HP:0000639	Nystagmus	2	CACNA1A CL E G H	773	1388	OMIM:141500	Migraine, familial hemiplegic, 1	.		449
HP:0000496	HP:0000639	Nystagmus	2	CACNA1A CL E G H	773	1388	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		449
HP:0000496	HP:0000639	Nystagmus	2	CACNA1A CL E G H	773	1388	OMIM:183086	Spinocerebellar ataxia 6			449
HP:0000496	HP:0007772	Impaired smooth pursuit	2	CACNA1A CL E G H	773	1388	OMIM:183086	Spinocerebellar ataxia 6	.		449
HP:0000496	HP:0000639	Nystagmus	2	CACNA1A CL E G H	773	1388	ORPHA:98758	Spinocerebellar ataxia type 6	HP:0040281 - Very frequent		449
HP:0000496	HP:0000486	Strabismus	2	CACNA1B CL E G H	774	1389	OMIM:618497	Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements	.		5
HP:0000496	HP:0000639	Nystagmus	2	CACNA1B CL E G H	774	1389	OMIM:618497	Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements	.		5
HP:0000496	HP:0000639	Nystagmus	2	CACNA1B CL E G H	774	1389	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		5
HP:0000496	HP:0000639	Nystagmus	2	CACNA1E CL E G H	777	1392	OMIM:618285	Developmental and epileptic encephalopathy 69	.		11
HP:0000496	HP:0000639	Nystagmus	2	CACNA1F CL E G H	778	1393	OMIM:300600	Aland island eye disease	.		58
HP:0000496	HP:0000639	Nystagmus	2	CACNA1F CL E G H	778	1393	ORPHA:178333	Åland Islands eye disease	HP:0040281 - Very frequent		58
HP:0000496	HP:0000639	Nystagmus	2	CACNA1F CL E G H	778	1393	OMIM:300476	Cone-Rod dystrophy, X-linked, 3	HP:0040283 - Occasional		58
HP:0000496	HP:0000486	Strabismus	2	CACNA1F CL E G H	778	1393	ORPHA:215	Congenital stationary night blindness	HP:0040282 - Frequent		58
HP:0000496	HP:0000639	Nystagmus	2	CACNA1F CL E G H	778	1393	ORPHA:215	Congenital stationary night blindness	HP:0040282 - Frequent		58
HP:0000496	HP:0000486	Strabismus	2	CACNA1F CL E G H	778	1393	OMIM:300071	Night blindness, congenital stationary, type 2A			58
HP:0000496	HP:0000639	Nystagmus	2	CACNA1F CL E G H	778	1393	OMIM:300071	Night blindness, congenital stationary, type 2A			58
HP:0000496	HP:0000639	Nystagmus	2	CACNA1G CL E G H	8913	1394	OMIM:616795	Spinocerebellar ataxia 42			32
HP:0000496	HP:0001152	Saccadic smooth pursuit	2	CACNA1G CL E G H	8913	1394	OMIM:616795	Spinocerebellar ataxia 42			32
HP:0000496	HP:0000486	Strabismus	2	CACNA1G CL E G H	8913	1394	OMIM:618087	Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits	.		32
HP:0000496	HP:0000486	Strabismus	2	CACNA1G CL E G H	8913	1394	ORPHA:458803	Spinocerebellar ataxia type 42	HP:0040283 - Occasional		32
HP:0000496	HP:0000571	Hypometric saccades	2	CACNA1G CL E G H	8913	1394	ORPHA:458803	Spinocerebellar ataxia type 42	HP:0040283 - Occasional		32
HP:0000496	HP:0000639	Nystagmus	2	CACNA1G CL E G H	8913	1394	ORPHA:458803	Spinocerebellar ataxia type 42	HP:0040283 - Occasional		32
HP:0000496	HP:0001152	Saccadic smooth pursuit	2	CACNA1G CL E G H	8913	1394	ORPHA:458803	Spinocerebellar ataxia type 42	HP:0040282 - Frequent		32
HP:0000496	HP:0007738	Uncontrolled eye movements	2	CACNA1H CL E G H	8912	1395	ORPHA:64280	Childhood absence epilepsy	HP:0040283 - Occasional		75
HP:0000496	HP:0000639	Nystagmus	2	CACNA2D1 CL E G H	781	1399	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		59
HP:0000496	HP:0000486	Strabismus	2	CACNA2D2 CL E G H	9254	1400	OMIM:618501	Cerebellar atrophy with seizures and variable developmental delay	.		48
HP:0000496	HP:0000639	Nystagmus	2	CACNA2D2 CL E G H	9254	1400	OMIM:618501	Cerebellar atrophy with seizures and variable developmental delay	.		48
HP:0000496	HP:0000486	Strabismus	2	CACNA2D4 CL E G H	93589	20202	ORPHA:215	Congenital stationary night blindness	HP:0040282 - Frequent		129
HP:0000496	HP:0000639	Nystagmus	2	CACNA2D4 CL E G H	93589	20202	ORPHA:215	Congenital stationary night blindness	HP:0040282 - Frequent		129
HP:0000496	HP:0000639	Nystagmus	2	CACNB4 CL E G H	785	1404	OMIM:607682	Epilepsy, idiopathic generalized, susceptibility to, 9			146
HP:0000496	HP:0000639	Nystagmus	2	CACNB4 CL E G H	785	1404	ORPHA:211067	Episodic ataxia type 5			146
HP:0000496	HP:0000639	Nystagmus	2	CACNB4 CL E G H	785	1404	OMIM:613855	Episodic ataxia, type 5			146
HP:0000496	HP:0000486	Strabismus	2	CAMK2A CL E G H	815	1460	OMIM:617798	Mental retardation, autosomal dominant 53	.		1
HP:0000496	HP:0000486	Strabismus	2	CAMK2B CL E G H	816	1461	OMIM:617799	Mental retardation, autosomal dominant 54	.
HP:0000496	HP:0000639	Nystagmus	2	CAMK2B CL E G H	816	1461	OMIM:617799	Mental retardation, autosomal dominant 54
HP:0000496	HP:0000486	Strabismus	2	CAMK2G CL E G H	818	1463	OMIM:618522	Intellectual developmental disorder 59			1
HP:0000496	HP:0000486	Strabismus	2	CAMTA1 CL E G H	23261	18806	OMIM:614756	Cerebellar ataxia, nonprogressive, with mental retardation	HP:0040283 - Occasional		34
HP:0000496	HP:0000486	Strabismus	2	CAMTA1 CL E G H	23261	18806	ORPHA:314647	Non-progressive cerebellar ataxia with intellectual disability	HP:0040282 - Frequent		34
HP:0000496	HP:0000639	Nystagmus	2	CAPN1 CL E G H	823	1476	OMIM:616907	SPASTIC PARAPLEGIA 76, AUTOSOMAL RECESSIVE; SPG76			4
HP:0000496	HP:0000639	Nystagmus	2	CARS1 CL E G H	833	1493	OMIM:618891	MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME; MDBH
HP:0000496	HP:0000486	Strabismus	2	CARS1 CL E G H	833	1493	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional
HP:0000496	HP:0000639	Nystagmus	2	CARS1 CL E G H	833	1493	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional
HP:0000496	HP:0000486	Strabismus	2	CASK CL E G H	8573	1497	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare		118
HP:0000496	HP:0000486	Strabismus	2	CASK CL E G H	8573	1497	OMIM:300749	Mental retardation and microcephaly with pontine and cerebellar hypoplasia	HP:0040283 - Occasional		118
HP:0000496	HP:0000639	Nystagmus	2	CASK CL E G H	8573	1497	OMIM:300749	Mental retardation and microcephaly with pontine and cerebellar hypoplasia	HP:0040283 - Occasional		118
HP:0000496	HP:0000486	Strabismus	2	CASK CL E G H	8573	1497	ORPHA:163937	X-linked intellectual disability, Najm type	HP:0040282 - Frequent		118
HP:0000496	HP:0000639	Nystagmus	2	CASK CL E G H	8573	1497	ORPHA:163937	X-linked intellectual disability, Najm type	HP:0040282 - Frequent		118
HP:0000496	HP:0000486	Strabismus	2	CASZ1 CL E G H	54897	26002	ORPHA:1606	1p36 deletion syndrome	HP:0040282 - Frequent		3
HP:0000496	HP:0000639	Nystagmus	2	CASZ1 CL E G H	54897	26002	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		3
HP:0000496	HP:0000639	Nystagmus	2	CAV1 CL E G H	857	1527	OMIM:606721	Lipodystrophy, familial partial, type 7	.		11
HP:0000496	HP:0000486	Strabismus	2	CBL CL E G H	867	1541	ORPHA:648	Noonan syndrome	HP:0040282 - Frequent		317
HP:0000496	HP:0000639	Nystagmus	2	CBL CL E G H	867	1541	ORPHA:648	Noonan syndrome	HP:0040283 - Occasional		317
HP:0000496	HP:0000486	Strabismus	2	CBY1 CL E G H	25776	1307	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional		1
HP:0000496	HP:0000639	Nystagmus	2	CBY1 CL E G H	25776	1307	ORPHA:475	Joubert syndrome	HP:0040282 - Frequent		1
HP:0000496	HP:0000486	Strabismus	2	CC2D2A CL E G H	57545	29253	OMIM:619111	COACH SYNDROME 2; COACH2			247
HP:0000496	HP:0000639	Nystagmus	2	CC2D2A CL E G H	57545	29253	OMIM:612285	Joubert syndrome 9			247
HP:0000496	HP:0000486	Strabismus	2	CC2D2A CL E G H	57545	29253	ORPHA:1454	Joubert syndrome with hepatic defect	HP:0040283 - Occasional		247
HP:0000496	HP:0000639	Nystagmus	2	CC2D2A CL E G H	57545	29253	ORPHA:1454	Joubert syndrome with hepatic defect	HP:0040282 - Frequent		247
HP:0000496	HP:0000486	Strabismus	2	CC2D2A CL E G H	57545	29253	ORPHA:2318	Joubert syndrome with oculorenal defect	HP:0040283 - Occasional		247
HP:0000496	HP:0000639	Nystagmus	2	CC2D2A CL E G H	57545	29253	ORPHA:2318	Joubert syndrome with oculorenal defect	HP:0040282 - Frequent		247
HP:0000496	HP:0000639	Nystagmus	2	CCDC141 CL E G H	285025	26821	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional
HP:0000496	HP:0000486	Strabismus	2	CCDC174 CL E G H	51244	28033	OMIM:616816	Hypotonia, infantile, with psychomotor retardation			1
HP:0000496	HP:0000486	Strabismus	2	CCDC28B CL E G H	79140	28163	OMIM:209900	Bardet-Biedl syndrome 1	.		4
HP:0000496	HP:0000639	Nystagmus	2	CCDC28B CL E G H	79140	28163	OMIM:209900	Bardet-Biedl syndrome 1	.		4
HP:0000496	HP:0000605	Supranuclear gaze palsy	2	CCDC88C CL E G H	440193	19967	ORPHA:423275	Spinocerebellar ataxia type 40			54
HP:0000496	HP:0000486	Strabismus	2	CCNQ CL E G H	92002	28434	OMIM:300707	Toe syndactyly, telecanthus, and anogenital and renal malformations			7
HP:0000496	HP:0000486	Strabismus	2	CD96 CL E G H	10225	16892	ORPHA:1308	C syndrome	HP:0040282 - Frequent		83
HP:0000496	HP:0000486	Strabismus	2	CD96 CL E G H	10225	16892	OMIM:211750	C syndrome	.		83
HP:0000496	HP:0000486	Strabismus	2	CDC42 CL E G H	998	1736	ORPHA:487796	Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome	HP:0040283 - Occasional		6
HP:0000496	HP:0000486	Strabismus	2	CDC42 CL E G H	998	1736	OMIM:616737	Takenouchi-Kosaki syndrome			6
HP:0000496	HP:0000486	Strabismus	2	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0000496	HP:0000486	Strabismus	2	CDC45 CL E G H	8318	1739	OMIM:617063	Meier-Gorlin syndrome 7	.		9
HP:0000496	HP:0000486	Strabismus	2	CDCA7 CL E G H	83879	14628	OMIM:616910	Immunodeficiency-Centromeric instability-facial anomalies syndrome 3			4
HP:0000496	HP:0000486	Strabismus	2	CDH11 CL E G H	1009	1750	ORPHA:1299	Branchioskeletogenital syndrome	HP:0040281 - Very frequent		2
HP:0000496	HP:0000486	Strabismus	2	CDH11 CL E G H	1009	1750	OMIM:211380	Elsahy-Waters syndrome			2
HP:0000496	HP:0000486	Strabismus	2	CDH2 CL E G H	1000	1759	OMIM:618929	AGENESIS OF CORPUS CALLOSUM, CARDIAC, OCULAR, AND GENITAL SYNDROME; ACOGS
HP:0000496	HP:0000602	Ophthalmoplegia	2	CDH23 CL E G H	64072	13733	ORPHA:2965	Prolactinoma			636
HP:0000496	HP:0012246	Oculomotor nerve palsy	2	CDH23 CL E G H	64072	13733	ORPHA:2965	Prolactinoma	HP:0040283 - Occasional		636
HP:0000496	HP:0000602	Ophthalmoplegia	2	CDH23 CL E G H	64072	13733	ORPHA:91347	TSH-secreting pituitary adenoma			636
HP:0000496	HP:0012246	Oculomotor nerve palsy	2	CDH23 CL E G H	64072	13733	ORPHA:91347	TSH-secreting pituitary adenoma	HP:0040283 - Occasional		636
HP:0000496	HP:0000486	Strabismus	2	CDH3 CL E G H	1001	1762	ORPHA:1897	EEM syndrome	HP:0040283 - Occasional		87
HP:0000496	HP:0000639	Nystagmus	2	CDH3 CL E G H	1001	1762	ORPHA:1573	Hypotrichosis with juvenile macular degeneration	HP:0040283 - Occasional		87
HP:0000496	HP:0000602	Ophthalmoplegia	2	CDHR1 CL E G H	92211	14550	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		147
HP:0000496	HP:0000639	Nystagmus	2	CDHR1 CL E G H	92211	14550	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		147
HP:0000496	HP:0000486	Strabismus	2	CDK13 CL E G H	8621	1733	OMIM:617360	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder	.		8
HP:0000496	HP:0000639	Nystagmus	2	CDK19 CL E G H	23097	19338	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional
HP:0000496	HP:0000486	Strabismus	2	CDK8 CL E G H	1024	1779	OMIM:618748	INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA AND BEHAVIORAL ABNORMALITIES; IDDHBA
HP:0000496	HP:0000486	Strabismus	2	CDKL5 CL E G H	6792	11411	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare		405
HP:0000496	HP:0000486	Strabismus	2	CDON CL E G H	50937	17104	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional		200
HP:0000496	HP:0000639	Nystagmus	2	CELF2 CL E G H	10659	2550	OMIM:619561	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 97; DEE97
HP:0000496	HP:0000639	Nystagmus	2	CELF2 CL E G H	10659	2550	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional
HP:0000496	HP:0000639	Nystagmus	2	CENPE CL E G H	1062	1856	OMIM:616051	Microcephaly 13, primary, autosomal recessive	.		20
HP:0000496	HP:0000486	Strabismus	2	CENPJ CL E G H	55835	17272	OMIM:608393	Microcephaly, primary autosomal recessive, 6			161
HP:0000496	HP:0000639	Nystagmus	2	CEP104 CL E G H	9731	24866	OMIM:619988				5
HP:0000496	HP:0000486	Strabismus	2	CEP104 CL E G H	9731	24866	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional		5
HP:0000496	HP:0000639	Nystagmus	2	CEP104 CL E G H	9731	24866	ORPHA:475	Joubert syndrome	HP:0040282 - Frequent		5
HP:0000496	HP:0000486	Strabismus	2	CEP120 CL E G H	153241	26690	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional		7
HP:0000496	HP:0000639	Nystagmus	2	CEP120 CL E G H	153241	26690	ORPHA:475	Joubert syndrome	HP:0040282 - Frequent		7
HP:0000496	HP:0000486	Strabismus	2	CEP120 CL E G H	153241	26690	OMIM:617761	Joubert syndrome 31	.		7
HP:0000496	HP:0000639	Nystagmus	2	CEP120 CL E G H	153241	26690	OMIM:617761	Joubert syndrome 31	.		7
HP:0000496	HP:0000486	Strabismus	2	CEP120 CL E G H	153241	26690	ORPHA:220493	Joubert syndrome with ocular defect	HP:0040283 - Occasional		7
HP:0000496	HP:0000639	Nystagmus	2	CEP120 CL E G H	153241	26690	ORPHA:220493	Joubert syndrome with ocular defect	HP:0040282 - Frequent		7
HP:0000496	HP:0000486	Strabismus	2	CEP152 CL E G H	22995	29298	OMIM:613823	Seckel syndrome 5	HP:0040283 - Occasional		146
HP:0000496	HP:0000639	Nystagmus	2	CEP164 CL E G H	22897	29182	OMIM:614845	Nephronophthisis 15	HP:0040283 - Occasional		34
HP:0000496	HP:0000639	Nystagmus	2	CEP19 CL E G H	84984	28209	ORPHA:110	Bardet-Biedl syndrome	HP:0040282 - Frequent		1
HP:0000496	HP:0000639	Nystagmus	2	CEP290 CL E G H	80184	29021	ORPHA:110	Bardet-Biedl syndrome	HP:0040282 - Frequent		342
HP:0000496	HP:0000639	Nystagmus	2	CEP290 CL E G H	80184	29021	OMIM:615991	Bardet-Biedl syndrome 14			342
HP:0000496	HP:0000639	Nystagmus	2	CEP290 CL E G H	80184	29021	OMIM:610188	Joubert syndrome 5	.		342
HP:0000496	HP:0000486	Strabismus	2	CEP290 CL E G H	80184	29021	ORPHA:2318	Joubert syndrome with oculorenal defect	HP:0040283 - Occasional		342
HP:0000496	HP:0000639	Nystagmus	2	CEP290 CL E G H	80184	29021	ORPHA:2318	Joubert syndrome with oculorenal defect	HP:0040282 - Frequent		342
HP:0000496	HP:0000639	Nystagmus	2	CEP290 CL E G H	80184	29021	ORPHA:65	Leber congenital amaurosis	HP:0040282 - Frequent		342
HP:0000496	HP:0000486	Strabismus	2	CEP41 CL E G H	95681	12370	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional		90
HP:0000496	HP:0000639	Nystagmus	2	CEP41 CL E G H	95681	12370	ORPHA:475	Joubert syndrome	HP:0040282 - Frequent		90
HP:0000496	HP:0000486	Strabismus	2	CEP41 CL E G H	95681	12370	ORPHA:220493	Joubert syndrome with ocular defect	HP:0040283 - Occasional		90
HP:0000496	HP:0000639	Nystagmus	2	CEP41 CL E G H	95681	12370	ORPHA:220493	Joubert syndrome with ocular defect	HP:0040282 - Frequent		90
HP:0000496	HP:0000639	Nystagmus	2	CEP78 CL E G H	84131	25740	OMIM:617236	CONE-ROD DYSTROPHY AND HEARING LOSS; CRDHL			9
HP:0000496	HP:0000486	Strabismus	2	CEP83 CL E G H	51134	17966	OMIM:615862	Nephronophthisis 18	HP:0040283 - Occasional		10
HP:0000496	HP:0000486	Strabismus	2	CEP85L CL E G H	387119	21638	ORPHA:572013	Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome			1
HP:0000496	HP:0000602	Ophthalmoplegia	2	CERKL CL E G H	375298	21699	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		71
HP:0000496	HP:0000639	Nystagmus	2	CERKL CL E G H	375298	21699	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		71
HP:0000496	HP:0000639	Nystagmus	2	CERS1 CL E G H	10715	14253	OMIM:616230	Epilepsy, progressive myoclonic, 8			1
HP:0000496	HP:0000639	Nystagmus	2	CFAP410 CL E G H	755	1260	OMIM:602271	Spondylometaphyseal dysplasia, axial	.
HP:0000496	HP:0000639	Nystagmus	2	CFAP418 CL E G H	157657	27232	ORPHA:110	Bardet-Biedl syndrome	HP:0040282 - Frequent
HP:0000496	HP:0000602	Ophthalmoplegia	2	CFAP418 CL E G H	157657	27232	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent
HP:0000496	HP:0000639	Nystagmus	2	CFAP418 CL E G H	157657	27232	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent
HP:0000496	HP:0000486	Strabismus	2	CHAMP1 CL E G H	283489	20311	OMIM:616579	Mental retardation, autosomal dominant 40	.		16
HP:0000496	HP:0000486	Strabismus	2	CHAT CL E G H	1103	1912	OMIM:254210	Myasthenic syndrome, congenital, 6, presynaptic	.		65
HP:0000496	HP:0000486	Strabismus	2	CHAT CL E G H	1103	1912	ORPHA:98914	Presynaptic congenital myasthenic syndromes			65
HP:0000496	HP:0000602	Ophthalmoplegia	2	CHAT CL E G H	1103	1912	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent		65
HP:0000496	HP:0000639	Nystagmus	2	CHAT CL E G H	1103	1912	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040284 - Very rare		65
HP:0000496	HP:0000605	Supranuclear gaze palsy	2	CHCHD10 CL E G H	400916	15559	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040283 - Occasional		11
HP:0000496	HP:0000486	Strabismus	2	CHD3 CL E G H	1107	1918	OMIM:618205	Snijders blok-campeau syndrome	.		2
HP:0000496	HP:0000486	Strabismus	2	CHD7 CL E G H	55636	20626	ORPHA:138	CHARGE syndrome	HP:0040282 - Frequent		515
HP:0000496	HP:0000639	Nystagmus	2	CHD7 CL E G H	55636	20626	ORPHA:138	CHARGE syndrome	HP:0040282 - Frequent		515
HP:0000496	HP:0000639	Nystagmus	2	CHD7 CL E G H	55636	20626	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional		515
HP:0000496	HP:0000639	Nystagmus	2	CHKA CL E G H	1119	1937	OMIM:620023
HP:0000496	HP:0000486	Strabismus	2	CHMP1A CL E G H	5119	8740	OMIM:614961	Pontocerebellar hypoplasia, type 8	.		19
HP:0000496	HP:0000486	Strabismus	2	CHN1 CL E G H	1123	1943	ORPHA:233	Duane retraction syndrome	HP:0040281 - Very frequent		35
HP:0000496	HP:0000639	Nystagmus	2	CHN1 CL E G H	1123	1943	ORPHA:233	Duane retraction syndrome	HP:0040283 - Occasional		35
HP:0000496	HP:0012246	Oculomotor nerve palsy	2	CHN1 CL E G H	1123	1943	ORPHA:233	Duane retraction syndrome	HP:0040281 - Very frequent		35
HP:0000496	HP:0000486	Strabismus	2	CHN1 CL E G H	1123	1943	OMIM:604356	DUANE RETRACTION SYNDROME 2; DURS2			35
HP:0000496	HP:0000514	Slow saccadic eye movements	2	CHP1 CL E G H	11261	17433	OMIM:618438	Spastic ataxia 9, autosomal recessive	.
HP:0000496	HP:0000602	Ophthalmoplegia	2	CHRNA1 CL E G H	1134	1955	OMIM:601462	Myasthenic syndrome, congenital, 1A, slow-channel	.		74
HP:0000496	HP:0000486	Strabismus	2	CHRNA7 CL E G H	1139	1960	ORPHA:199318	15q13.3 microdeletion syndrome	HP:0040283 - Occasional		52
HP:0000496	HP:0000486	Strabismus	2	CHRNA7 CL E G H	1139	1960	OMIM:612001	Chromosome 15q13.3 microdeletion syndrome			52
HP:0000496	HP:0000602	Ophthalmoplegia	2	CHRNB1 CL E G H	1140	1961	OMIM:616313	Myasthenic syndrome, congenital, 2A, slow-channel	.		53
HP:0000496	HP:0000602	Ophthalmoplegia	2	CHRND CL E G H	1144	1965	OMIM:616322	Myasthenic syndrome, congenital, 3B, fast-channel	.		88
HP:0000496	HP:0000486	Strabismus	2	CHRNE CL E G H	1145	1966	OMIM:605809	Myasthenic syndrome, congenital, 4A, slow-channel	.		139
HP:0000496	HP:0000602	Ophthalmoplegia	2	CHRNE CL E G H	1145	1966	OMIM:616324	Myasthenic syndrome, congenital, 4B, fast-channel	.		139
HP:0000496	HP:0000486	Strabismus	2	CHRNE CL E G H	1145	1966	OMIM:608931	Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency	.		139
HP:0000496	HP:0000486	Strabismus	2	CHRNG CL E G H	1146	1967	ORPHA:2990	Autosomal recessive multiple pterygium syndrome	HP:0040283 - Occasional		68
HP:0000496	HP:0000486	Strabismus	2	CHST14 CL E G H	113189	24464	OMIM:601776	Ehlers-Danlos syndrome, musculocontractural type 1	.		27
HP:0000496	HP:0000486	Strabismus	2	CHST14 CL E G H	113189	24464	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome	HP:0040282 - Frequent		27
HP:0000496	HP:0000486	Strabismus	2	CHST3 CL E G H	9469	1971	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects			165
HP:0000496	HP:0000602	Ophthalmoplegia	2	CISD2 CL E G H	493856	24212	ORPHA:3463	Wolfram syndrome	HP:0040283 - Occasional		3
HP:0000496	HP:0000639	Nystagmus	2	CISD2 CL E G H	493856	24212	ORPHA:3463	Wolfram syndrome	HP:0040282 - Frequent		3
HP:0000496	HP:0000486	Strabismus	2	CLCN3 CL E G H	1182	2021	OMIM:619512	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA			2
HP:0000496	HP:0000639	Nystagmus	2	CLCN3 CL E G H	1182	2021	OMIM:619512	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA			2
HP:0000496	HP:0000639	Nystagmus	2	CLCN3 CL E G H	1182	2021	OMIM:619517	NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ABNORMALITIES; NEDSBA			2
HP:0000496	HP:0025405	Visual fixation instability	2	CLCN3 CL E G H	1182	2021	OMIM:619517	NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ABNORMALITIES; NEDSBA			2
HP:0000496	HP:0000486	Strabismus	2	CLCN4 CL E G H	1183	2022	ORPHA:485350	CLCN4-related X-linked intellectual disability syndrome	HP:0040283 - Occasional		45
HP:0000496	HP:0000486	Strabismus	2	CLCN4 CL E G H	1183	2022	OMIM:300114	Raynaud-Claes syndrome	HP:0040283 - Occasional		45
HP:0000496	HP:0000486	Strabismus	2	CLCN6 CL E G H	1185	2024	OMIM:619173	NEURODEGENERATION, CHILDHOOD-ONSET, WITH HYPOTONIA, RESPIRATORY INSUFFICIENCY, AND BRAIN IMAGING ABNORMALITIES; CONRIBA
HP:0000496	HP:0000639	Nystagmus	2	CLCN6 CL E G H	1185	2024	OMIM:619173	NEURODEGENERATION, CHILDHOOD-ONSET, WITH HYPOTONIA, RESPIRATORY INSUFFICIENCY, AND BRAIN IMAGING ABNORMALITIES; CONRIBA
HP:0000496	HP:0000639	Nystagmus	2	CLCN7 CL E G H	1186	2025	ORPHA:667	Autosomal recessive malignant osteopetrosis	HP:0040281 - Very frequent		102
HP:0000496	HP:0010543	Opsoclonus	2	CLCN7 CL E G H	1186	2025	ORPHA:667	Autosomal recessive malignant osteopetrosis	HP:0040281 - Very frequent		102
HP:0000496	HP:0032104	Saccadic oscillation	2	CLCN7 CL E G H	1186	2025	ORPHA:667	Autosomal recessive malignant osteopetrosis			102
HP:0000496	HP:0000486	Strabismus	2	CLDN11 CL E G H	5010	8514	OMIM:619328	Leukodystrophy, hypomyelinating, 22
HP:0000496	HP:0000639	Nystagmus	2	CLDN11 CL E G H	5010	8514	OMIM:619328	Leukodystrophy, hypomyelinating, 22
HP:0000496	HP:0000486	Strabismus	2	CLDN16 CL E G H	10686	2037	OMIM:248250	Hypomagnesemia 3, renal	.		58
HP:0000496	HP:0000639	Nystagmus	2	CLDN16 CL E G H	10686	2037	OMIM:248250	Hypomagnesemia 3, renal	.		58
HP:0000496	HP:0000639	Nystagmus	2	CLDN19 CL E G H	149461	2040	ORPHA:2196	Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement	HP:0040281 - Very frequent		42
HP:0000496	HP:0000486	Strabismus	2	CLDN19 CL E G H	149461	2040	OMIM:248190	Hypomagnesemia 5, renal, with or without ocular involvement	.		42
HP:0000496	HP:0000639	Nystagmus	2	CLDN19 CL E G H	149461	2040	OMIM:248190	Hypomagnesemia 5, renal, with or without ocular involvement	.		42
HP:0000496	HP:0000486	Strabismus	2	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0000496	HP:0000639	Nystagmus	2	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome
HP:0000496	HP:0000639	Nystagmus	2	CLN3 CL E G H	1201	2074	ORPHA:228346	CLN3 disease			216
HP:0000496	HP:0000639	Nystagmus	2	CLN5 CL E G H	1203	2076	OMIM:256731	Ceroid lipofuscinosis, neuronal, 5	HP:0040283 - Occasional		141
HP:0000496	HP:0000639	Nystagmus	2	CLN5 CL E G H	1203	2076	ORPHA:228360	CLN5 disease	HP:0040282 - Frequent		141
HP:0000496	HP:0000486	Strabismus	2	CLP1 CL E G H	10978	16999	ORPHA:411493	Pontocerebellar hypoplasia type 10	HP:0040284 - Very rare		7
HP:0000496	HP:0025405	Visual fixation instability	2	CLP1 CL E G H	10978	16999	ORPHA:411493	Pontocerebellar hypoplasia type 10	HP:0040283 - Occasional		7
HP:0000496	HP:0000486	Strabismus	2	CLP1 CL E G H	10978	16999	OMIM:615803	Pontocerebellar hypoplasia, type 10	.		7
HP:0000496	HP:0000639	Nystagmus	2	CLP1 CL E G H	10978	16999	OMIM:615803	Pontocerebellar hypoplasia, type 10	.		7
HP:0000496	HP:0000639	Nystagmus	2	CLPB CL E G H	81570	30664	ORPHA:445038	3-methylglutaconic aciduria type 7	HP:0040283 - Occasional		38
HP:0000496	HP:0000639	Nystagmus	2	CLPB CL E G H	81570	30664	OMIM:616271	3-Methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia			38
HP:0000496	HP:0000602	Ophthalmoplegia	2	CLRN1 CL E G H	7401	12605	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		60
HP:0000496	HP:0000639	Nystagmus	2	CLRN1 CL E G H	7401	12605	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		60
HP:0000496	HP:0000639	Nystagmus	2	CLTC CL E G H	1213	2092	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		1
HP:0000496	HP:0000486	Strabismus	2	CLTCL1 CL E G H	8218	2093	ORPHA:453510	Congenital insensitivity to pain with severe intellectual disability	HP:0040282 - Frequent		6
HP:0000496	HP:0000639	Nystagmus	2	CLTCL1 CL E G H	8218	2093	ORPHA:453510	Congenital insensitivity to pain with severe intellectual disability			6
HP:0000496	HP:0000486	Strabismus	2	CLTRN CL E G H	57393	29437	ORPHA:2116	Hartnup disease	HP:0040282 - Frequent
HP:0000496	HP:0000639	Nystagmus	2	CLTRN CL E G H	57393	29437	ORPHA:2116	Hartnup disease	HP:0040282 - Frequent
HP:0000496	HP:0000602	Ophthalmoplegia	2	CNGA1 CL E G H	1259	2148	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		44
HP:0000496	HP:0000639	Nystagmus	2	CNGA1 CL E G H	1259	2148	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		44
HP:0000496	HP:0000639	Nystagmus	2	CNGA3 CL E G H	1261	2150	ORPHA:49382	Achromatopsia			82
HP:0000496	HP:0025549	Eccentric visual fixation	2	CNGA3 CL E G H	1261	2150	ORPHA:49382	Achromatopsia	HP:0040283 - Occasional		82
HP:0000496	HP:0000639	Nystagmus	2	CNGA3 CL E G H	1261	2150	OMIM:216900	Achromatopsia 2	.		82
HP:0000496	HP:0000602	Ophthalmoplegia	2	CNGB1 CL E G H	1258	2151	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		164
HP:0000496	HP:0000639	Nystagmus	2	CNGB1 CL E G H	1258	2151	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		164
HP:0000496	HP:0000639	Nystagmus	2	CNGB3 CL E G H	54714	2153	ORPHA:49382	Achromatopsia			194
HP:0000496	HP:0025549	Eccentric visual fixation	2	CNGB3 CL E G H	54714	2153	ORPHA:49382	Achromatopsia	HP:0040283 - Occasional		194
HP:0000496	HP:0000639	Nystagmus	2	CNGB3 CL E G H	54714	2153	OMIM:262300	Achromatopsia 3			194
HP:0000496	HP:0007704	Paroxysmal involuntary eye movements	2	CNGB3 CL E G H	54714	2153	ORPHA:827	Stargardt disease	HP:0040281 - Very frequent		194
HP:0000496	HP:0000639	Nystagmus	2	CNKSR2 CL E G H	22866	19701	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		18
HP:0000496	HP:0000639	Nystagmus	2	CNNM4 CL E G H	26504	105	OMIM:217080	Jalili syndrome	.		61
HP:0000496	HP:0000639	Nystagmus	2	CNNM4 CL E G H	26504	105	ORPHA:1873	Jalili syndrome	HP:0040281 - Very frequent		61
HP:0000496	HP:0000486	Strabismus	2	CNOT3 CL E G H	4849	7879	OMIM:618672	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, AUTISM, AND DYSMORPHIC FACIES; IDDSADF
HP:0000496	HP:0000639	Nystagmus	2	CNOT3 CL E G H	4849	7879	OMIM:618672	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, AUTISM, AND DYSMORPHIC FACIES; IDDSADF
HP:0000496	HP:0000639	Nystagmus	2	CNTNAP2 CL E G H	26047	13830	ORPHA:163681	CNTNAP2-related developmental and epileptic encephalopathy			518
HP:0000496	HP:0000639	Nystagmus	2	COG4 CL E G H	25839	18620	ORPHA:263501	COG4-CDG	HP:0040282 - Frequent		67
HP:0000496	HP:0000639	Nystagmus	2	COG4 CL E G H	25839	18620	OMIM:613489	Congenital disorder of glycosylation, type IIj	HP:0040283 - Occasional		67
HP:0000496	HP:0000486	Strabismus	2	COG5 CL E G H	10466	14857	ORPHA:263487	COG5-CDG	HP:0040283 - Occasional		79
HP:0000496	HP:0000486	Strabismus	2	COG8 CL E G H	84342	18623	ORPHA:95428	COG8-CDG			39
HP:0000496	HP:0000486	Strabismus	2	COG8 CL E G H	84342	18623	OMIM:611182	Congenital disorder of glycosylation, type IIh			39
HP:0000496	HP:0000486	Strabismus	2	COL11A1 CL E G H	1301	2186	ORPHA:560	Marshall syndrome	HP:0040283 - Occasional		215
HP:0000496	HP:0000486	Strabismus	2	COL11A1 CL E G H	1301	2186	OMIM:154780	Marshall syndrome			215
HP:0000496	HP:0000639	Nystagmus	2	COL11A1 CL E G H	1301	2186	ORPHA:560	Marshall syndrome	HP:0040283 - Occasional		215
HP:0000496	HP:0000486	Strabismus	2	COL11A2 CL E G H	1302	2187	ORPHA:1427	Otospondylomegaepiphyseal dysplasia	HP:0040284 - Very rare		222
HP:0000496	HP:0000486	Strabismus	2	COL12A1 CL E G H	1303	2188	ORPHA:75840	Congenital muscular dystrophy, Ullrich type			65
HP:0000496	HP:0000486	Strabismus	2	COL13A1 CL E G H	1305	2190	ORPHA:98914	Presynaptic congenital myasthenic syndromes			6
HP:0000496	HP:0000602	Ophthalmoplegia	2	COL13A1 CL E G H	1305	2190	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent		6
HP:0000496	HP:0000639	Nystagmus	2	COL13A1 CL E G H	1305	2190	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040284 - Very rare		6
HP:0000496	HP:0000486	Strabismus	2	COL18A1 CL E G H	80781	2195	ORPHA:1571	Knobloch syndrome	HP:0040283 - Occasional		177
HP:0000496	HP:0000639	Nystagmus	2	COL18A1 CL E G H	80781	2195	ORPHA:1571	Knobloch syndrome	HP:0040282 - Frequent		177
HP:0000496	HP:0000639	Nystagmus	2	COL18A1 CL E G H	80781	2195	OMIM:267750	Knobloch syndrome 1	.		177
HP:0000496	HP:0000486	Strabismus	2	COL1A2 CL E G H	1278	2198	ORPHA:230851	Cardiac-valvular Ehlers-Danlos syndrome	HP:0040282 - Frequent		243
HP:0000496	HP:0000486	Strabismus	2	COL25A1 CL E G H	84570	18603	ORPHA:91411	Congenital ptosis			3
HP:0000496	HP:0000602	Ophthalmoplegia	2	COL25A1 CL E G H	84570	18603	ORPHA:91411	Congenital ptosis			3
HP:0000496	HP:0001477	Compensatory chin elevation	2	COL25A1 CL E G H	84570	18603	ORPHA:91411	Congenital ptosis			3
HP:0000496	HP:0000486	Strabismus	2	COL25A1 CL E G H	84570	18603	OMIM:616219	Fibrosis of extraocular muscles, congenital, 5			3
HP:0000496	HP:0000486	Strabismus	2	COL2A1 CL E G H	1280	2200	ORPHA:93315	Spondylometaphyseal dysplasia, 'corner fracture' type	HP:0040284 - Very rare		284
HP:0000496	HP:0012246	Oculomotor nerve palsy	2	COL3A1 CL E G H	1281	2201	ORPHA:231160	Familial cerebral saccular aneurysm	HP:0040283 - Occasional		749
HP:0000496	HP:0000486	Strabismus	2	COL4A1 CL E G H	1282	2202	OMIM:175780	Brain small vessel disease 1 with or without ocular anomalies			193
HP:0000496	HP:0000486	Strabismus	2	COL4A2 CL E G H	1284	2203	OMIM:614483	PORENCEPHALY 2; POREN2			147
HP:0000496	HP:0000486	Strabismus	2	COL6A1 CL E G H	1291	2211	ORPHA:75840	Congenital muscular dystrophy, Ullrich type			442
HP:0000496	HP:0000486	Strabismus	2	COL6A2 CL E G H	1292	2212	ORPHA:75840	Congenital muscular dystrophy, Ullrich type			478
HP:0000496	HP:0000486	Strabismus	2	COL6A3 CL E G H	1293	2213	ORPHA:75840	Congenital muscular dystrophy, Ullrich type			702
HP:0000496	HP:0000486	Strabismus	2	COL8A2 CL E G H	1296	2216	ORPHA:98973	Posterior polymorphous corneal dystrophy			3
HP:0000496	HP:0000486	Strabismus	2	COLEC11 CL E G H	78989	17213	OMIM:265050	3mc syndrome 2	.		9
HP:0000496	HP:0000486	Strabismus	2	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional		6
HP:0000496	HP:0000639	Nystagmus	2	COQ2 CL E G H	27235	25223	OMIM:607426	Coenzyme Q10 deficiency, primary, 1	.		54
HP:0000496	HP:0000639	Nystagmus	2	COQ2 CL E G H	27235	25223	OMIM:146500	Multiple system atrophy 1, susceptibility to			54
HP:0000496	HP:0000639	Nystagmus	2	COQ2 CL E G H	27235	25223	ORPHA:227510	Multiple system atrophy, cerebellar type			54
HP:0000496	HP:0000639	Nystagmus	2	COQ2 CL E G H	27235	25223	ORPHA:98933	Multiple system atrophy, parkinsonian type			54
HP:0000496	HP:0000514	Slow saccadic eye movements	2	COQ5 CL E G H	84274	28722	OMIM:619028	COENZYME Q10 DEFICIENCY, PRIMARY, 9; COQ10D9
HP:0000496	HP:0000571	Hypometric saccades	2	COQ5 CL E G H	84274	28722	OMIM:619028	COENZYME Q10 DEFICIENCY, PRIMARY, 9; COQ10D9
HP:0000496	HP:0000639	Nystagmus	2	COQ5 CL E G H	84274	28722	OMIM:619028	COENZYME Q10 DEFICIENCY, PRIMARY, 9; COQ10D9
HP:0000496	HP:0000486	Strabismus	2	COQ8A CL E G H	56997	16812	ORPHA:139485	Autosomal recessive ataxia due to ubiquinone deficiency	HP:0040283 - Occasional		136
HP:0000496	HP:0000602	Ophthalmoplegia	2	COX1 CL E G H	4512	7419	ORPHA:550	MELAS
HP:0000496	HP:0000602	Ophthalmoplegia	2	COX1 CL E G H	4512	7419	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0000496	HP:0000639	Nystagmus	2	COX10 CL E G H	1352	2260	OMIM:619046	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 3; MC4DN3			82
HP:0000496	HP:0000486	Strabismus	2	COX15 CL E G H	1355	2263	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		104
HP:0000496	HP:0000602	Ophthalmoplegia	2	COX15 CL E G H	1355	2263	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		104
HP:0000496	HP:0000639	Nystagmus	2	COX15 CL E G H	1355	2263	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		104
HP:0000496	HP:0012470	Setting-sun eye phenomenon	2	COX16 CL E G H	51241	20213	OMIM:619355	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 22; MC4DN22
HP:0000496	HP:0000602	Ophthalmoplegia	2	COX2 CL E G H	4513	7421	ORPHA:550	MELAS
HP:0000496	HP:0000602	Ophthalmoplegia	2	COX2 CL E G H	4513	7421	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0000496	HP:0000602	Ophthalmoplegia	2	COX3 CL E G H	4514	7422	ORPHA:550	MELAS
HP:0000496	HP:0000602	Ophthalmoplegia	2	COX3 CL E G H	4514	7422	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0000496	HP:0000639	Nystagmus	2	CP CL E G H	1356	2295	ORPHA:48818	Aceruloplasminemia	HP:0040283 - Occasional		115
HP:0000496	HP:0000486	Strabismus	2	CPLANE1 CL E G H	65250	25801	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional
HP:0000496	HP:0000639	Nystagmus	2	CPLANE1 CL E G H	65250	25801	ORPHA:475	Joubert syndrome	HP:0040282 - Frequent
HP:0000496	HP:0000486	Strabismus	2	CPLANE1 CL E G H	65250	25801	ORPHA:2754	Orofaciodigital syndrome type 6
HP:0000496	HP:0000639	Nystagmus	2	CPLANE1 CL E G H	65250	25801	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040282 - Frequent
HP:0000496	HP:0000486	Strabismus	2	CPLANE1 CL E G H	65250	25801	OMIM:277170	Orofaciodigital syndrome VI
HP:0000496	HP:0000639	Nystagmus	2	CPLANE1 CL E G H	65250	25801	OMIM:277170	Orofaciodigital syndrome VI	.
HP:0000496	HP:0000486	Strabismus	2	CPLX1 CL E G H	10815	2309	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040283 - Occasional		1
HP:0000496	HP:0000486	Strabismus	2	CPLX1 CL E G H	10815	2309	OMIM:194190	Wolf-Hirschhorn syndrome			1
HP:0000496	HP:0000639	Nystagmus	2	CPLX1 CL E G H	10815	2309	OMIM:194190	Wolf-Hirschhorn syndrome			1
HP:0000496	HP:0000639	Nystagmus	2	CPLX1 CL E G H	10815	2309	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040283 - Occasional		1
HP:0000496	HP:0000486	Strabismus	2	CPSF3 CL E G H	51692	2326	OMIM:619876
HP:0000496	HP:0000639	Nystagmus	2	CPSF3 CL E G H	51692	2326	OMIM:619876
HP:0000496	HP:0000639	Nystagmus	2	CRB1 CL E G H	23418	2343	ORPHA:65	Leber congenital amaurosis	HP:0040282 - Frequent		156
HP:0000496	HP:0000639	Nystagmus	2	CRB1 CL E G H	23418	2343	OMIM:613835	Leber congenital amaurosis 8			156
HP:0000496	HP:0000486	Strabismus	2	CRB1 CL E G H	23418	2343	ORPHA:35612	Nanophthalmos	HP:0040281 - Very frequent		156
HP:0000496	HP:0000486	Strabismus	2	CRB1 CL E G H	23418	2343	OMIM:172870	Pigmented paravenous chorioretinal atrophy			156
HP:0000496	HP:0000602	Ophthalmoplegia	2	CRB1 CL E G H	23418	2343	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		156
HP:0000496	HP:0000639	Nystagmus	2	CRB1 CL E G H	23418	2343	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		156
HP:0000496	HP:0000486	Strabismus	2	CRB1 CL E G H	23418	2343	OMIM:600105	Retinitis pigmentosa 12			156
HP:0000496	HP:0000639	Nystagmus	2	CRB1 CL E G H	23418	2343	OMIM:600105	Retinitis pigmentosa 12	.		156
HP:0000496	HP:0000486	Strabismus	2	CREBBP CL E G H	1387	2348	OMIM:618332	MENKE-HENNEKAM SYNDROME 1; MKHK1			291
HP:0000496	HP:0000486	Strabismus	2	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1			291
HP:0000496	HP:0000486	Strabismus	2	CREBBP CL E G H	1387	2348	ORPHA:353277	Rubinstein-Taybi syndrome due to CREBBP mutations	HP:0040283 - Occasional		291
HP:0000496	HP:0000639	Nystagmus	2	CREBBP CL E G H	1387	2348	ORPHA:353277	Rubinstein-Taybi syndrome due to CREBBP mutations	HP:0040283 - Occasional		291
HP:0000496	HP:0000486	Strabismus	2	CRIPT CL E G H	9419	14312	OMIM:615789	Short stature with microcephaly and distinctive facies			4
HP:0000496	HP:0000639	Nystagmus	2	CRIPT CL E G H	9419	14312	OMIM:615789	Short stature with microcephaly and distinctive facies	.		4
HP:0000496	HP:0000639	Nystagmus	2	CRX CL E G H	1406	2383	ORPHA:65	Leber congenital amaurosis	HP:0040282 - Frequent		158
HP:0000496	HP:0000639	Nystagmus	2	CRX CL E G H	1406	2383	OMIM:613829	Leber congenital amaurosis 7			158
HP:0000496	HP:0000602	Ophthalmoplegia	2	CRX CL E G H	1406	2383	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		158
HP:0000496	HP:0000639	Nystagmus	2	CRX CL E G H	1406	2383	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		158
HP:0000496	HP:0000486	Strabismus	2	CRYAA CL E G H	1409	2388	OMIM:604219	Cataract 9, multiple types	.		33
HP:0000496	HP:0000639	Nystagmus	2	CRYAA CL E G H	1409	2388	OMIM:604219	Cataract 9, multiple types	.		33
HP:0000496	HP:0000639	Nystagmus	2	CRYAA CL E G H	1409	2388	ORPHA:1377	Cataract-microcornea syndrome	HP:0040283 - Occasional		33
HP:0000496	HP:0000639	Nystagmus	2	CRYBA4 CL E G H	1413	2396	ORPHA:1377	Cataract-microcornea syndrome	HP:0040283 - Occasional		10
HP:0000496	HP:0000639	Nystagmus	2	CRYBB1 CL E G H	1414	2397	OMIM:611544	Cataract 17, multiple types	.		18
HP:0000496	HP:0000639	Nystagmus	2	CRYBB1 CL E G H	1414	2397	ORPHA:1377	Cataract-microcornea syndrome	HP:0040283 - Occasional		18
HP:0000496	HP:0000639	Nystagmus	2	CRYBB2 CL E G H	1415	2398	ORPHA:1377	Cataract-microcornea syndrome	HP:0040283 - Occasional		13
HP:0000496	HP:0000639	Nystagmus	2	CRYGC CL E G H	1420	2410	OMIM:604307	Cataract 2, multiple types	.		11
HP:0000496	HP:0000639	Nystagmus	2	CRYGC CL E G H	1420	2410	ORPHA:1377	Cataract-microcornea syndrome	HP:0040283 - Occasional		11
HP:0000496	HP:0000639	Nystagmus	2	CRYGD CL E G H	1421	2411	ORPHA:1377	Cataract-microcornea syndrome	HP:0040283 - Occasional		29
HP:0000496	HP:0000639	Nystagmus	2	CSF1R CL E G H	1436	2433	OMIM:618476	Brain abnormalities, neurodegeneration, and dysosteosclerosis			149
HP:0000496	HP:0000486	Strabismus	2	CSPP1 CL E G H	79848	26193	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional		57
HP:0000496	HP:0000639	Nystagmus	2	CSPP1 CL E G H	79848	26193	ORPHA:475	Joubert syndrome	HP:0040282 - Frequent		57
HP:0000496	HP:0000486	Strabismus	2	CSPP1 CL E G H	79848	26193	OMIM:615636	Joubert syndrome 21	.		57
HP:0000496	HP:0000486	Strabismus	2	CSPP1 CL E G H	79848	26193	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy			57
HP:0000496	HP:0000486	Strabismus	2	CTBP1 CL E G H	1487	2494	OMIM:194190	Wolf-Hirschhorn syndrome			2
HP:0000496	HP:0000486	Strabismus	2	CTBP1 CL E G H	1487	2494	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040283 - Occasional		2
HP:0000496	HP:0000639	Nystagmus	2	CTBP1 CL E G H	1487	2494	OMIM:194190	Wolf-Hirschhorn syndrome			2
HP:0000496	HP:0000639	Nystagmus	2	CTBP1 CL E G H	1487	2494	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040283 - Occasional		2
HP:0000496	HP:0000486	Strabismus	2	CTCF CL E G H	10664	13723	ORPHA:363611	CTCF-related neurodevelopmental disorder	HP:0040282 - Frequent		20
HP:0000496	HP:0000486	Strabismus	2	CTCF CL E G H	10664	13723	OMIM:615502	Mental retardation, autosomal dominant 21	.		20
HP:0000496	HP:0000639	Nystagmus	2	CTDP1 CL E G H	9150	2498	OMIM:604168	Congenital cataracts, facial dysmorphism, and neuropathy	.		17
HP:0000496	HP:0000486	Strabismus	2	CTDP1 CL E G H	9150	2498	ORPHA:48431	Congenital cataracts-facial dysmorphism-neuropathy syndrome	HP:0040282 - Frequent		17
HP:0000496	HP:0000639	Nystagmus	2	CTDP1 CL E G H	9150	2498	ORPHA:48431	Congenital cataracts-facial dysmorphism-neuropathy syndrome	HP:0040281 - Very frequent		17
HP:0000496	HP:0000639	Nystagmus	2	CTNNB1 CL E G H	1499	2514	OMIM:617572	Exudative vitreoretinopathy 7	.		88
HP:0000496	HP:0000486	Strabismus	2	CTNNB1 CL E G H	1499	2514	OMIM:615075	Neurodevelopmental disorder with spastic diplegia and visual defects	.		88
HP:0000496	HP:0000486	Strabismus	2	CTNNB1 CL E G H	1499	2514	ORPHA:404473	Severe intellectual disability-progressive spastic diplegia syndrome	HP:0040283 - Occasional		88
HP:0000496	HP:0000486	Strabismus	2	CTSK CL E G H	1513	2536	ORPHA:763	Pycnodysostosis			39
HP:0000496	HP:0000639	Nystagmus	2	CWF19L1 CL E G H	55280	25613	ORPHA:453521	Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency			9
HP:0000496	HP:0000486	Strabismus	2	CWF19L1 CL E G H	55280	25613	OMIM:616127	Spinocerebellar ataxia, autosomal recessive 17			9
HP:0000496	HP:0000486	Strabismus	2	CYB5A CL E G H	1528	2570	ORPHA:621	Hereditary methemoglobinemia			2
HP:0000496	HP:0000486	Strabismus	2	CYB5R3 CL E G H	1727	2873	ORPHA:621	Hereditary methemoglobinemia			24
HP:0000496	HP:0000486	Strabismus	2	CYB5R3 CL E G H	1727	2873	OMIM:250800	Methemoglobinemia due to deficiency of methemoglobin reductase	.		24
HP:0000496	HP:0000639	Nystagmus	2	CYFIP2 CL E G H	26999	13760	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		1
HP:0000496	HP:0000486	Strabismus	2	CYP1B1 CL E G H	1545	2597	ORPHA:708	Peters anomaly	HP:0040284 - Very rare		101
HP:0000496	HP:0000639	Nystagmus	2	CYP1B1 CL E G H	1545	2597	ORPHA:708	Peters anomaly	HP:0040284 - Very rare		101
HP:0000496	HP:0000639	Nystagmus	2	CYP27A1 CL E G H	1593	2605	ORPHA:909	Cerebrotendinous xanthomatosis	HP:0040282 - Frequent		114
HP:0000496	HP:0000639	Nystagmus	2	CYP7B1 CL E G H	9420	2652	ORPHA:100986	Autosomal recessive spastic paraplegia type 5A	HP:0040284 - Very rare		57
HP:0000496	HP:0000639	Nystagmus	2	CYP7B1 CL E G H	9420	2652	OMIM:270800	Spastic paraplegia 5A, autosomal recessive	HP:0040283 - Occasional		57
HP:0000496	HP:0000602	Ophthalmoplegia	2	CYTB CL E G H	4519	7427	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0000496	HP:0000639	Nystagmus	2	DAB1 CL E G H	1600	2661	OMIM:615945	Spinocerebellar ataxia 37	HP:0040283 - Occasional		4
HP:0000496	HP:0000639	Nystagmus	2	DAB1 CL E G H	1600	2661	ORPHA:363710	Spinocerebellar ataxia type 37			4
HP:0000496	HP:0000486	Strabismus	2	DACT1 CL E G H	51339	17748	ORPHA:857	Townes-Brocks syndrome	HP:0040283 - Occasional		2
HP:0000496	HP:0000639	Nystagmus	2	DALRD3 CL E G H	55152	25536	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional
HP:0000496	HP:0000639	Nystagmus	2	DARS1 CL E G H	1615	2678	OMIM:615281	HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY; HBSL
HP:0000496	HP:0000514	Slow saccadic eye movements	2	DARS2 CL E G H	55157	25538	ORPHA:137898	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome	HP:0040284 - Very rare		60
HP:0000496	HP:0000639	Nystagmus	2	DARS2 CL E G H	55157	25538	ORPHA:137898	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome	HP:0040284 - Very rare		60
HP:0000496	HP:0007668	Impaired pursuit initiation and maintenance	2	DARS2 CL E G H	55157	25538	ORPHA:137898	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome	HP:0040284 - Very rare		60
HP:0000496	HP:0000639	Nystagmus	2	DARS2 CL E G H	55157	25538	OMIM:611105	Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation	.		60
HP:0000496	HP:0000605	Supranuclear gaze palsy	2	DCC CL E G H	1630	2701	OMIM:617542	GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS, 2; HGPPS2			36
HP:0000496	HP:0000605	Supranuclear gaze palsy	2	DCC CL E G H	1630	2701	ORPHA:2744	Horizontal gaze palsy with progressive scoliosis			36
HP:0000496	HP:0000639	Nystagmus	2	DCC CL E G H	1630	2701	ORPHA:2744	Horizontal gaze palsy with progressive scoliosis	HP:0040282 - Frequent		36
HP:0000496	HP:0000639	Nystagmus	2	DCC CL E G H	1630	2701	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional		36
HP:0000496	HP:0000486	Strabismus	2	DCN CL E G H	1634	2705	OMIM:610048	Corneal dystrophy, congenital stromal			31
HP:0000496	HP:0000639	Nystagmus	2	DCT CL E G H	1638	2709	OMIM:619165	OCULOCUTANEOUS ALBINISM, TYPE VIII; OCA8
HP:0000496	HP:0000605	Supranuclear gaze palsy	2	DCTN1 CL E G H	1639	2711	OMIM:168605	Perry syndrome			86
HP:0000496	HP:0000639	Nystagmus	2	DCX CL E G H	1641	2714	OMIM:300067	Lissencephaly, X-linked, 1	.		145
HP:0000496	HP:0000486	Strabismus	2	DDB1 CL E G H	1642	2717	OMIM:619426	WHITE-KERNOHAN SYNDROME; WHIKERS
HP:0000496	HP:0000639	Nystagmus	2	DDB1 CL E G H	1642	2717	OMIM:619426	WHITE-KERNOHAN SYNDROME; WHIKERS
HP:0000496	HP:0000486	Strabismus	2	DDB2 CL E G H	1643	2718	ORPHA:910	Xeroderma pigmentosum	HP:0040282 - Frequent		30
HP:0000496	HP:0000486	Strabismus	2	DDHD2 CL E G H	23259	29106	ORPHA:320380	Autosomal recessive spastic paraplegia type 54	HP:0040282 - Frequent		29
HP:0000496	HP:0000486	Strabismus	2	DDHD2 CL E G H	23259	29106	OMIM:615033	Spastic paraplegia 54, autosomal recessive	.		29
HP:0000496	HP:0000486	Strabismus	2	DDOST CL E G H	1650	2728	OMIM:614507	Congenital disorder of glycosylation, type IR	.		62
HP:0000496	HP:0000486	Strabismus	2	DDOST CL E G H	1650	2728	ORPHA:300536	DDOST-CDG			62
HP:0000496	HP:0000486	Strabismus	2	DDX3X CL E G H	1654	2745	OMIM:300958	MENTAL RETARDATION, X-LINKED 102; MRX102			57
HP:0000496	HP:0000486	Strabismus	2	DDX59 CL E G H	83479	25360	OMIM:174300	Orofaciodigital syndrome V			2
HP:0000496	HP:0000486	Strabismus	2	DDX6 CL E G H	1656	2747	OMIM:618653	INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES; IDDILF
HP:0000496	HP:0000486	Strabismus	2	DEAF1 CL E G H	10522	14677	ORPHA:819	Smith-Magenis syndrome	HP:0040282 - Frequent		33
HP:0000496	HP:0000639	Nystagmus	2	DEGS1 CL E G H	8560	13709	OMIM:618404	Leukodystrophy, hypomyelinating, 18
HP:0000496	HP:0000486	Strabismus	2	DGUOK CL E G H	1716	2858	ORPHA:329314	Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency	HP:0040283 - Occasional		57
HP:0000496	HP:0000602	Ophthalmoplegia	2	DGUOK CL E G H	1716	2858	ORPHA:329314	Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency			57
HP:0000496	HP:0000639	Nystagmus	2	DGUOK CL E G H	1716	2858	OMIM:251880	Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)	.		57
HP:0000496	HP:0000602	Ophthalmoplegia	2	DGUOK CL E G H	1716	2858	OMIM:617070	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4			57
HP:0000496	HP:0000486	Strabismus	2	DHCR24 CL E G H	1718	2859	OMIM:602398	DESMOSTEROLOSIS	.		72
HP:0000496	HP:0000486	Strabismus	2	DHCR24 CL E G H	1718	2859	ORPHA:35107	Desmosterolosis	HP:0040282 - Frequent		72
HP:0000496	HP:0000639	Nystagmus	2	DHCR24 CL E G H	1718	2859	OMIM:602398	DESMOSTEROLOSIS	.		72
HP:0000496	HP:0000639	Nystagmus	2	DHCR24 CL E G H	1718	2859	ORPHA:35107	Desmosterolosis	HP:0040282 - Frequent		72
HP:0000496	HP:0000486	Strabismus	2	DHCR7 CL E G H	1717	2860	OMIM:270400	Smith-Lemli-Opitz syndrome			159
HP:0000496	HP:0000486	Strabismus	2	DHCR7 CL E G H	1717	2860	ORPHA:818	Smith-Lemli-Opitz syndrome	HP:0040283 - Occasional		159
HP:0000496	HP:0000639	Nystagmus	2	DHCR7 CL E G H	1717	2860	OMIM:270400	Smith-Lemli-Opitz syndrome			159
HP:0000496	HP:0000639	Nystagmus	2	DHCR7 CL E G H	1717	2860	ORPHA:818	Smith-Lemli-Opitz syndrome	HP:0040283 - Occasional		159
HP:0000496	HP:0000639	Nystagmus	2	DHDDS CL E G H	79947	20603	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		47
HP:0000496	HP:0000602	Ophthalmoplegia	2	DHDDS CL E G H	79947	20603	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		47
HP:0000496	HP:0000639	Nystagmus	2	DHDDS CL E G H	79947	20603	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		47
HP:0000496	HP:0000486	Strabismus	2	DHODH CL E G H	1723	2867	ORPHA:246	Postaxial acrofacial dysostosis	HP:0040283 - Occasional		59
HP:0000496	HP:0000514	Slow saccadic eye movements	2	DHX16 CL E G H	8449	2739	OMIM:618733	NEUROMUSCULAR OCULOAUDITORY SYNDROME; NMOAS
HP:0000496	HP:0000486	Strabismus	2	DHX30 CL E G H	22907	16716	OMIM:617804	Neurodevelopmental disorder with severe motor impairment and absent language	.		4
HP:0000496	HP:0000486	Strabismus	2	DHX37 CL E G H	57647	17210	OMIM:618731	NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES AND WITH OR WITHOUT VERTEBRAL OR CARDIAC ANOMALIES; NEDBAVC			2
HP:0000496	HP:0000602	Ophthalmoplegia	2	DHX37 CL E G H	57647	17210	OMIM:618731	NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES AND WITH OR WITHOUT VERTEBRAL OR CARDIAC ANOMALIES; NEDBAVC			2
HP:0000496	HP:0000639	Nystagmus	2	DHX37 CL E G H	57647	17210	OMIM:618731	NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES AND WITH OR WITHOUT VERTEBRAL OR CARDIAC ANOMALIES; NEDBAVC			2
HP:0000496	HP:0000602	Ophthalmoplegia	2	DHX38 CL E G H	9785	17211	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		1
HP:0000496	HP:0000639	Nystagmus	2	DHX38 CL E G H	9785	17211	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		1
HP:0000496	HP:0000486	Strabismus	2	DISP1 CL E G H	84976	19711	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional		22
HP:0000496	HP:0000486	Strabismus	2	DKC1 CL E G H	1736	2890	OMIM:305000	Dyskeratosis congenita, X-linked	.		65
HP:0000496	HP:0000639	Nystagmus	2	DKK1 CL E G H	22943	2891	ORPHA:268882	Arnold-Chiari malformation type I	HP:0040282 - Frequent
HP:0000496	HP:0000486	Strabismus	2	DLAT CL E G H	1737	2896	ORPHA:79244	Pyruvate dehydrogenase E2 deficiency	HP:0040283 - Occasional		82
HP:0000496	HP:0000486	Strabismus	2	DLAT CL E G H	1737	2896	OMIM:245348	Pyruvate dehydrogenase E2 deficiency			82
HP:0000496	HP:0000605	Supranuclear gaze palsy	2	DLAT CL E G H	1737	2896	ORPHA:79244	Pyruvate dehydrogenase E2 deficiency			82
HP:0000496	HP:0000639	Nystagmus	2	DLAT CL E G H	1737	2896	OMIM:245348	Pyruvate dehydrogenase E2 deficiency	.		82
HP:0000496	HP:0000486	Strabismus	2	DLG3 CL E G H	1741	2902	OMIM:300850	MENTAL RETARDATION, X-LINKED 90; MRX90			30
HP:0000496	HP:0000486	Strabismus	2	DLG4 CL E G H	1742	2903	OMIM:618793	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 62; MRD62			2
HP:0000496	HP:0000486	Strabismus	2	DLK1 CL E G H	8788	2907	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion			1
HP:0000496	HP:0000486	Strabismus	2	DLL1 CL E G H	28514	2908	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional		3
HP:0000496	HP:0000486	Strabismus	2	DLL4 CL E G H	54567	2910	ORPHA:974	Adams-Oliver syndrome	HP:0040282 - Frequent		9
HP:0000496	HP:0000486	Strabismus	2	DMXL2 CL E G H	23312	2938	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare		3
HP:0000496	HP:0000602	Ophthalmoplegia	2	DNA2 CL E G H	1763	2939	ORPHA:352470	DNA2-related mitochondrial DNA deletion syndrome			41
HP:0000496	HP:0000602	Ophthalmoplegia	2	DNA2 CL E G H	1763	2939	OMIM:615156	Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal dominant, 6			41
HP:0000496	HP:0000639	Nystagmus	2	DNAJC12 CL E G H	56521	28908	OMIM:617384	Hyperphenylalaninemia, MILD, non-bh4-deficient			3
HP:0000496	HP:0000486	Strabismus	2	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0000496	HP:0000639	Nystagmus	2	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome
HP:0000496	HP:0000571	Hypometric saccades	2	DNAJC6 CL E G H	9829	15469	OMIM:615528	Parkinson disease 19a, juvenile-onset	HP:0040283 - Occasional		6
HP:0000496	HP:0000639	Nystagmus	2	DNM1 CL E G H	1759	2972	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		72
HP:0000496	HP:0000486	Strabismus	2	DNM1L CL E G H	10059	2973	ORPHA:98673	Autosomal dominant optic atrophy, classic form			94
HP:0000496	HP:0000602	Ophthalmoplegia	2	DNM1L CL E G H	10059	2973	ORPHA:98673	Autosomal dominant optic atrophy, classic form	HP:0040282 - Frequent		94
HP:0000496	HP:0000639	Nystagmus	2	DNM1L CL E G H	10059	2973	ORPHA:98673	Autosomal dominant optic atrophy, classic form	HP:0040284 - Very rare		94
HP:0000496	HP:0000486	Strabismus	2	DNM1L CL E G H	10059	2973	ORPHA:330050	DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect	HP:0040283 - Occasional		94
HP:0000496	HP:0000639	Nystagmus	2	DNM1L CL E G H	10059	2973	ORPHA:330050	DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect	HP:0040282 - Frequent		94
HP:0000496	HP:0000486	Strabismus	2	DNM1L CL E G H	10059	2973	OMIM:614388	Encephalopathy due to defective mitochondrial and peroxisomal fission 1	.		94
HP:0000496	HP:0000639	Nystagmus	2	DNM1L CL E G H	10059	2973	OMIM:614388	Encephalopathy due to defective mitochondrial and peroxisomal fission 1			94
HP:0000496	HP:0000602	Ophthalmoplegia	2	DNM2 CL E G H	1785	2974	ORPHA:169189	Autosomal dominant centronuclear myopathy			167
HP:0000496	HP:0000602	Ophthalmoplegia	2	DNM2 CL E G H	1785	2974	OMIM:160150	Myopathy, centronuclear, autosomal dominant			167
HP:0000496	HP:0000486	Strabismus	2	DNMBP CL E G H	23268	30373	OMIM:618415	Cataract 48
HP:0000496	HP:0000639	Nystagmus	2	DNMBP CL E G H	23268	30373	OMIM:618415	Cataract 48
HP:0000496	HP:0000639	Nystagmus	2	DNMT1 CL E G H	1786	2976	ORPHA:314404	Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome	HP:0040283 - Occasional		145
HP:0000496	HP:0000486	Strabismus	2	DNMT3A CL E G H	1788	2978	OMIM:618724	HEYN-SPROUL-JACKSON SYNDROME; HESJAS			44
HP:0000496	HP:0000486	Strabismus	2	DOCK6 CL E G H	57572	19189	ORPHA:974	Adams-Oliver syndrome	HP:0040282 - Frequent		18
HP:0000496	HP:0000486	Strabismus	2	DOCK6 CL E G H	57572	19189	OMIM:614219	Adams-Oliver syndrome 2	HP:0040283 - Occasional		18
HP:0000496	HP:0000486	Strabismus	2	DOHH CL E G H	83475	28662	OMIM:620066
HP:0000496	HP:0000639	Nystagmus	2	DOHH CL E G H	83475	28662	OMIM:620066
HP:0000496	HP:0000639	Nystagmus	2	DOLK CL E G H	22845	23406	OMIM:610768	Congenital disorder of glycosylation, type Im			55
HP:0000496	HP:0000486	Strabismus	2	DOLK CL E G H	22845	23406	ORPHA:91131	DK1-CDG			55
HP:0000496	HP:0000486	Strabismus	2	DPAGT1 CL E G H	1798	2995	OMIM:608093	Congenital disorder of glycosylation, type Ij			38
HP:0000496	HP:0000639	Nystagmus	2	DPAGT1 CL E G H	1798	2995	OMIM:608093	Congenital disorder of glycosylation, type Ij	.		38
HP:0000496	HP:0000486	Strabismus	2	DPAGT1 CL E G H	1798	2995	ORPHA:86309	DPAGT1-CDG	HP:0040283 - Occasional		38
HP:0000496	HP:0000639	Nystagmus	2	DPAGT1 CL E G H	1798	2995	ORPHA:86309	DPAGT1-CDG	HP:0040283 - Occasional		38
HP:0000496	HP:0000486	Strabismus	2	DPF2 CL E G H	5977	9964	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent
HP:0000496	HP:0000486	Strabismus	2	DPF2 CL E G H	5977	9964	OMIM:618027	Coffin-Siris syndrome 7	.
HP:0000496	HP:0000486	Strabismus	2	DPM1 CL E G H	8813	3005	OMIM:608799	Congenital disorder of glycosylation, type IE	.		27
HP:0000496	HP:0000639	Nystagmus	2	DPM1 CL E G H	8813	3005	OMIM:608799	Congenital disorder of glycosylation, type IE	.		27
HP:0000496	HP:0000486	Strabismus	2	DPM1 CL E G H	8813	3005	ORPHA:79322	DPM1-CDG	HP:0040283 - Occasional		27
HP:0000496	HP:0000639	Nystagmus	2	DPM1 CL E G H	8813	3005	ORPHA:79322	DPM1-CDG	HP:0040283 - Occasional		27
HP:0000496	HP:0000486	Strabismus	2	DPM2 CL E G H	8818	3006	OMIM:615042	Congenital disorder of glycosylation, type Iu	.		26
HP:0000496	HP:0000486	Strabismus	2	DPM2 CL E G H	8818	3006	ORPHA:329178	Congenital muscular dystrophy with intellectual disability and severe epilepsy	HP:0040283 - Occasional		26
HP:0000496	HP:0007772	Impaired smooth pursuit	2	DPM2 CL E G H	8818	3006	ORPHA:329178	Congenital muscular dystrophy with intellectual disability and severe epilepsy			26
HP:0000496	HP:0000486	Strabismus	2	DPP6 CL E G H	1804	3010	ORPHA:2514	Autosomal dominant primary microcephaly			18
HP:0000496	HP:0000639	Nystagmus	2	DPP6 CL E G H	1804	3010	ORPHA:2514	Autosomal dominant primary microcephaly			18
HP:0000496	HP:0000486	Strabismus	2	DPYD CL E G H	1806	3012	ORPHA:1675	Dihydropyrimidine dehydrogenase deficiency	HP:0040283 - Occasional		144
HP:0000496	HP:0000639	Nystagmus	2	DPYD CL E G H	1806	3012	OMIM:274270	Dihydropyrimidine dehydrogenase deficiency	.		144
HP:0000496	HP:0000639	Nystagmus	2	DPYD CL E G H	1806	3012	ORPHA:1675	Dihydropyrimidine dehydrogenase deficiency	HP:0040283 - Occasional		144
HP:0000496	HP:0000486	Strabismus	2	DPYSL5 CL E G H	56896	20637	OMIM:619435	RITSCHER-SCHINZEL SYNDROME 4; RTSC4
HP:0000496	HP:0000486	Strabismus	2	DSE CL E G H	29940	21144	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome	HP:0040282 - Frequent		13
HP:0000496	HP:0000639	Nystagmus	2	DTNBP1 CL E G H	84062	17328	OMIM:614076	Hermansky-Pudlak syndrome 7	.		46
HP:0000496	HP:0000639	Nystagmus	2	DUSP6 CL E G H	1848	3072	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional		4
HP:0000496	HP:0000486	Strabismus	2	DVL1 CL E G H	1855	3084	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040283 - Occasional		14
HP:0000496	HP:0000486	Strabismus	2	DVL3 CL E G H	1857	3087	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040283 - Occasional		5
HP:0000496	HP:0000486	Strabismus	2	DYNC2LI1 CL E G H	51626	24595	ORPHA:289	Ellis Van Creveld syndrome	HP:0040282 - Frequent		7
HP:0000496	HP:0000486	Strabismus	2	DYRK1A CL E G H	1859	3091	ORPHA:268261	DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion	HP:0040283 - Occasional		134
HP:0000496	HP:0000486	Strabismus	2	DYRK1A CL E G H	1859	3091	ORPHA:464311	Intellectual disability syndrome due to a DYRK1A point mutation	HP:0040283 - Occasional		134
HP:0000496	HP:0000602	Ophthalmoplegia	2	EARS2 CL E G H	124454	29419	OMIM:614924	Combined oxidative phosphorylation deficiency 12	.		80
HP:0000496	HP:0000486	Strabismus	2	EBF3 CL E G H	253738	19087	OMIM:617330	HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS			25
HP:0000496	HP:0000639	Nystagmus	2	EBP CL E G H	10682	3133	OMIM:302960	Chondrodysplasia punctata 2, X-linked dominant	.		51
HP:0000496	HP:0000486	Strabismus	2	ECHS1 CL E G H	1892	3151	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		33
HP:0000496	HP:0000602	Ophthalmoplegia	2	ECHS1 CL E G H	1892	3151	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		33
HP:0000496	HP:0000639	Nystagmus	2	ECHS1 CL E G H	1892	3151	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		33
HP:0000496	HP:0000639	Nystagmus	2	ECHS1 CL E G H	1892	3151	OMIM:616277	Mitochondrial short-chain enoyl-coa hydratase 1 deficiency	.		33
HP:0000496	HP:0000486	Strabismus	2	EDEM3 CL E G H	80267	16787	OMIM:619493	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 2v; CDG2V
HP:0000496	HP:0000639	Nystagmus	2	EDNRB CL E G H	1910	3180	OMIM:277580	Waardenburg-Shah syndrome	.		55
HP:0000496	HP:0000639	Nystagmus	2	EEF1A2 CL E G H	1917	3192	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		60
HP:0000496	HP:0000639	Nystagmus	2	EEF2 CL E G H	1938	3214	OMIM:609306	Spinocerebellar ataxia 26	.		4
HP:0000496	HP:0000641	Dysmetric saccades	2	EEF2 CL E G H	1938	3214	OMIM:609306	Spinocerebellar ataxia 26	.		4
HP:0000496	HP:0007772	Impaired smooth pursuit	2	EEF2 CL E G H	1938	3214	OMIM:609306	Spinocerebellar ataxia 26			4
HP:0000496	HP:0000639	Nystagmus	2	EEF2 CL E G H	1938	3214	ORPHA:101112	Spinocerebellar ataxia type 26	HP:0040282 - Frequent		4
HP:0000496	HP:0000641	Dysmetric saccades	2	EEF2 CL E G H	1938	3214	ORPHA:101112	Spinocerebellar ataxia type 26	HP:0040282 - Frequent		4
HP:0000496	HP:0007772	Impaired smooth pursuit	2	EEF2 CL E G H	1938	3214	ORPHA:101112	Spinocerebellar ataxia type 26			4
HP:0000496	HP:0000486	Strabismus	2	EFNB1 CL E G H	1947	3226	OMIM:304110	Craniofrontonasal syndrome			27
HP:0000496	HP:0000639	Nystagmus	2	EFNB1 CL E G H	1947	3226	OMIM:304110	Craniofrontonasal syndrome	.		27
HP:0000496	HP:0000639	Nystagmus	2	EGR2 CL E G H	1959	3239	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas	HP:0040283 - Occasional		58
HP:0000496	HP:0000605	Supranuclear gaze palsy	2	EIF2AK2 CL E G H	5610	9437	OMIM:619687	DYSTONIA 33; DYT33
HP:0000496	HP:0000486	Strabismus	2	EIF2AK3 CL E G H	9451	3255	ORPHA:1667	Wolcott-Rallison syndrome	HP:0040283 - Occasional		65
HP:0000496	HP:0000486	Strabismus	2	EIF2S3 CL E G H	1968	3267	OMIM:300148	Mehmo syndrome	.		8
HP:0000496	HP:0000639	Nystagmus	2	EIF2S3 CL E G H	1968	3267	ORPHA:85282	MEHMO syndrome	HP:0040282 - Frequent		8
HP:0000496	HP:0000486	Strabismus	2	EIF3F CL E G H	8665	3275	OMIM:618295	Intellectual developmental disorder, autosomal recessive 67
HP:0000496	HP:0000639	Nystagmus	2	EIF3F CL E G H	8665	3275	OMIM:618295	Intellectual developmental disorder, autosomal recessive 67
HP:0000496	HP:0000486	Strabismus	2	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0000496	HP:0000639	Nystagmus	2	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome
HP:0000496	HP:0000486	Strabismus	2	ELN CL E G H	2006	3327	ORPHA:90348	Autosomal dominant cutis laxa			172
HP:0000496	HP:0000486	Strabismus	2	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome	HP:0040282 - Frequent		172
HP:0000496	HP:0000639	Nystagmus	2	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome			172
HP:0000496	HP:0000486	Strabismus	2	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome			172
HP:0000496	HP:0000639	Nystagmus	2	ELOVL1 CL E G H	64834	14418	OMIM:618527	Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features
HP:0000496	HP:0000605	Supranuclear gaze palsy	2	ELOVL4 CL E G H	6785	14415	OMIM:133190	Spinocerebellar ataxia 34	.		62
HP:0000496	HP:0000639	Nystagmus	2	ELOVL4 CL E G H	6785	14415	OMIM:133190	Spinocerebellar ataxia 34	.		62
HP:0000496	HP:0007772	Impaired smooth pursuit	2	ELOVL4 CL E G H	6785	14415	OMIM:133190	Spinocerebellar ataxia 34	.		62
HP:0000496	HP:0000486	Strabismus	2	ELOVL4 CL E G H	6785	14415	ORPHA:1955	Spinocerebellar ataxia type 34	HP:0040283 - Occasional		62
HP:0000496	HP:0000639	Nystagmus	2	ELOVL4 CL E G H	6785	14415	ORPHA:1955	Spinocerebellar ataxia type 34	HP:0040281 - Very frequent		62
HP:0000496	HP:0007704	Paroxysmal involuntary eye movements	2	ELOVL4 CL E G H	6785	14415	ORPHA:827	Stargardt disease	HP:0040281 - Very frequent		62
HP:0000496	HP:0000514	Slow saccadic eye movements	2	ELOVL5 CL E G H	60481	21308	OMIM:615957	Spinocerebellar ataxia 38	.		4
HP:0000496	HP:0000639	Nystagmus	2	ELOVL5 CL E G H	60481	21308	OMIM:615957	Spinocerebellar ataxia 38	.		4
HP:0000496	HP:0000514	Slow saccadic eye movements	2	ELOVL5 CL E G H	60481	21308	ORPHA:423296	Spinocerebellar ataxia type 38	HP:0040282 - Frequent		4
HP:0000496	HP:0000639	Nystagmus	2	ELOVL5 CL E G H	60481	21308	ORPHA:423296	Spinocerebellar ataxia type 38	HP:0040281 - Very frequent		4
HP:0000496	HP:0000486	Strabismus	2	EMC1 CL E G H	23065	28957	OMIM:616875	Cerebellar atrophy, visual impairment, and psychomotor retardation			5
HP:0000496	HP:0000486	Strabismus	2	EMC1 CL E G H	23065	28957	ORPHA:480898	Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome	HP:0040283 - Occasional		5
HP:0000496	HP:0000639	Nystagmus	2	EMC10 CL E G H	284361	27609	OMIM:619264	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND VARIABLE SEIZURES; NEDDFAS
HP:0000496	HP:0012246	Oculomotor nerve palsy	2	ENG CL E G H	2022	3349	ORPHA:231160	Familial cerebral saccular aneurysm	HP:0040283 - Occasional		186
HP:0000496	HP:0000486	Strabismus	2	EOGT CL E G H	285203	28526	ORPHA:974	Adams-Oliver syndrome	HP:0040282 - Frequent		4
HP:0000496	HP:0000486	Strabismus	2	EP300 CL E G H	2033	3373	OMIM:618333	MENKE-HENNEKAM SYNDROME 2; MKHK2			250
HP:0000496	HP:0000486	Strabismus	2	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1			250
HP:0000496	HP:0000486	Strabismus	2	EP300 CL E G H	2033	3373	OMIM:613684	Rubinstein-Taybi syndrome 2			250
HP:0000496	HP:0000486	Strabismus	2	EP300 CL E G H	2033	3373	ORPHA:353284	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	HP:0040283 - Occasional		250
HP:0000496	HP:0000639	Nystagmus	2	EP300 CL E G H	2033	3373	ORPHA:353284	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	HP:0040283 - Occasional		250
HP:0000496	HP:0000639	Nystagmus	2	EPG5 CL E G H	57724	29331	ORPHA:1493	Vici syndrome	HP:0040282 - Frequent		40
HP:0000496	HP:0000639	Nystagmus	2	EPG5 CL E G H	57724	29331	OMIM:242840	Vici syndrome	.		40
HP:0000496	HP:0000639	Nystagmus	2	EPRS1 CL E G H	2058	3418	OMIM:617951	Leukodystrophy, hypomyelinating, 15	.
HP:0000496	HP:0000639	Nystagmus	2	ERCC1 CL E G H	2067	3433	OMIM:610758	Cerebrooculofacioskeletal syndrome 4	.		20
HP:0000496	HP:0000486	Strabismus	2	ERCC1 CL E G H	2067	3433	ORPHA:90322	Cockayne syndrome type 2	HP:0040283 - Occasional		20
HP:0000496	HP:0000639	Nystagmus	2	ERCC1 CL E G H	2067	3433	ORPHA:90322	Cockayne syndrome type 2	HP:0040283 - Occasional		20
HP:0000496	HP:0000486	Strabismus	2	ERCC2 CL E G H	2068	3434	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		106
HP:0000496	HP:0000639	Nystagmus	2	ERCC2 CL E G H	2068	3434	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		106
HP:0000496	HP:0000486	Strabismus	2	ERCC2 CL E G H	2068	3434	OMIM:601675	Trichothiodystrophy 1, photosensitive	.		106
HP:0000496	HP:0000639	Nystagmus	2	ERCC2 CL E G H	2068	3434	OMIM:601675	Trichothiodystrophy 1, photosensitive	.		106
HP:0000496	HP:0000486	Strabismus	2	ERCC2 CL E G H	2068	3434	ORPHA:910	Xeroderma pigmentosum	HP:0040282 - Frequent		106
HP:0000496	HP:0000639	Nystagmus	2	ERCC2 CL E G H	2068	3434	ORPHA:220295	Xeroderma pigmentosum-Cockayne syndrome complex	HP:0040281 - Very frequent		106
HP:0000496	HP:0000486	Strabismus	2	ERCC3 CL E G H	2071	3435	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		54
HP:0000496	HP:0000639	Nystagmus	2	ERCC3 CL E G H	2071	3435	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		54
HP:0000496	HP:0000486	Strabismus	2	ERCC3 CL E G H	2071	3435	ORPHA:910	Xeroderma pigmentosum	HP:0040282 - Frequent		54
HP:0000496	HP:0000639	Nystagmus	2	ERCC3 CL E G H	2071	3435	ORPHA:220295	Xeroderma pigmentosum-Cockayne syndrome complex	HP:0040281 - Very frequent		54
HP:0000496	HP:0000486	Strabismus	2	ERCC4 CL E G H	2072	3436	ORPHA:90321	Cockayne syndrome type 1	HP:0040283 - Occasional		158
HP:0000496	HP:0000639	Nystagmus	2	ERCC4 CL E G H	2072	3436	ORPHA:90321	Cockayne syndrome type 1	HP:0040283 - Occasional		158
HP:0000496	HP:0000486	Strabismus	2	ERCC4 CL E G H	2072	3436	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		158
HP:0000496	HP:0000639	Nystagmus	2	ERCC4 CL E G H	2072	3436	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		158
HP:0000496	HP:0000486	Strabismus	2	ERCC4 CL E G H	2072	3436	ORPHA:910	Xeroderma pigmentosum	HP:0040282 - Frequent		158
HP:0000496	HP:0000639	Nystagmus	2	ERCC4 CL E G H	2072	3436	OMIM:278760	Xeroderma pigmentosum, complementation group F	HP:0040283 - Occasional		158
HP:0000496	HP:0000639	Nystagmus	2	ERCC4 CL E G H	2072	3436	ORPHA:220295	Xeroderma pigmentosum-Cockayne syndrome complex	HP:0040281 - Very frequent		158
HP:0000496	HP:0000486	Strabismus	2	ERCC5 CL E G H	2073	3437	ORPHA:910	Xeroderma pigmentosum	HP:0040282 - Frequent		83
HP:0000496	HP:0000639	Nystagmus	2	ERCC5 CL E G H	2073	3437	ORPHA:220295	Xeroderma pigmentosum-Cockayne syndrome complex	HP:0040281 - Very frequent		83
HP:0000496	HP:0000639	Nystagmus	2	ERCC6 CL E G H	2074	3438	OMIM:214150	Cerebrooculofacioskeletal syndrome 1	.		199
HP:0000496	HP:0000486	Strabismus	2	ERCC6 CL E G H	2074	3438	ORPHA:90321	Cockayne syndrome type 1	HP:0040283 - Occasional		199
HP:0000496	HP:0000639	Nystagmus	2	ERCC6 CL E G H	2074	3438	ORPHA:90321	Cockayne syndrome type 1	HP:0040283 - Occasional		199
HP:0000496	HP:0000486	Strabismus	2	ERCC6 CL E G H	2074	3438	ORPHA:90322	Cockayne syndrome type 2	HP:0040283 - Occasional		199
HP:0000496	HP:0000639	Nystagmus	2	ERCC6 CL E G H	2074	3438	ORPHA:90322	Cockayne syndrome type 2	HP:0040283 - Occasional		199
HP:0000496	HP:0000486	Strabismus	2	ERCC6 CL E G H	2074	3438	ORPHA:90324	Cockayne syndrome type 3	HP:0040283 - Occasional		199
HP:0000496	HP:0000639	Nystagmus	2	ERCC6 CL E G H	2074	3438	ORPHA:90324	Cockayne syndrome type 3	HP:0040283 - Occasional		199
HP:0000496	HP:0000486	Strabismus	2	ERCC6 CL E G H	2074	3438	OMIM:133540	Cockayne syndrome, type B	.		199
HP:0000496	HP:0000639	Nystagmus	2	ERCC6 CL E G H	2074	3438	OMIM:133540	Cockayne syndrome, type B	.		199
HP:0000496	HP:0000486	Strabismus	2	ERCC6 CL E G H	2074	3438	OMIM:278800	De Sanctis-Cacchione syndrome			199
HP:0000496	HP:0000486	Strabismus	2	ERCC8 CL E G H	1161	3439	OMIM:216400	Cockayne syndrome A	.		55
HP:0000496	HP:0000639	Nystagmus	2	ERCC8 CL E G H	1161	3439	OMIM:216400	Cockayne syndrome A	.		55
HP:0000496	HP:0000486	Strabismus	2	ERCC8 CL E G H	1161	3439	ORPHA:90321	Cockayne syndrome type 1	HP:0040283 - Occasional		55
HP:0000496	HP:0000639	Nystagmus	2	ERCC8 CL E G H	1161	3439	ORPHA:90321	Cockayne syndrome type 1	HP:0040283 - Occasional		55
HP:0000496	HP:0000486	Strabismus	2	ERCC8 CL E G H	1161	3439	ORPHA:90322	Cockayne syndrome type 2	HP:0040283 - Occasional		55
HP:0000496	HP:0000639	Nystagmus	2	ERCC8 CL E G H	1161	3439	ORPHA:90322	Cockayne syndrome type 2	HP:0040283 - Occasional		55
HP:0000496	HP:0000486	Strabismus	2	ERCC8 CL E G H	1161	3439	ORPHA:90324	Cockayne syndrome type 3	HP:0040283 - Occasional		55
HP:0000496	HP:0000639	Nystagmus	2	ERCC8 CL E G H	1161	3439	ORPHA:90324	Cockayne syndrome type 3	HP:0040283 - Occasional		55
HP:0000496	HP:0000486	Strabismus	2	ERF CL E G H	2077	3444	ORPHA:207	Crouzon disease	HP:0040282 - Frequent		12
HP:0000496	HP:0000639	Nystagmus	2	ERLIN2 CL E G H	11160	1356	ORPHA:209951	Autosomal recessive spastic paraplegia type 18			18
HP:0000496	HP:0000486	Strabismus	2	ERLIN2 CL E G H	11160	1356	OMIM:611225	Spastic paraplegia 18, autosomal recessive	.		18
HP:0000496	HP:0000486	Strabismus	2	ERMARD CL E G H	55780	21056	ORPHA:75857	6q terminal deletion syndrome	HP:0040281 - Very frequent		36
HP:0000496	HP:0000639	Nystagmus	2	ERMARD CL E G H	55780	21056	ORPHA:75857	6q terminal deletion syndrome	HP:0040282 - Frequent		36
HP:0000496	HP:0000486	Strabismus	2	ERMARD CL E G H	55780	21056	OMIM:615544	Periventricular nodular heterotopia 6	.		36
HP:0000496	HP:0000639	Nystagmus	2	ESCO2 CL E G H	157570	27230	ORPHA:3103	Roberts syndrome	HP:0040283 - Occasional		92
HP:0000496	HP:0000486	Strabismus	2	EVC CL E G H	2121	3497	ORPHA:289	Ellis Van Creveld syndrome	HP:0040282 - Frequent		209
HP:0000496	HP:0000486	Strabismus	2	EVC2 CL E G H	132884	19747	ORPHA:289	Ellis Van Creveld syndrome	HP:0040282 - Frequent		137
HP:0000496	HP:0000486	Strabismus	2	EXOC8 CL E G H	149371	24659	OMIM:619076	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND BRAIN ATROPHY; NEDMISB			1
HP:0000496	HP:0000486	Strabismus	2	EXOSC1 CL E G H	51013	17286	OMIM:619304	PONTOCEREBELLAR HYPOPLASIA, TYPE 1F; PCH1F
HP:0000496	HP:0000486	Strabismus	2	EXOSC2 CL E G H	23404	17097	OMIM:617763	Short stature, hearing loss, retinitis pigmentosa, and distinctive facies	HP:0040284 - Very rare
HP:0000496	HP:0000639	Nystagmus	2	EXOSC2 CL E G H	23404	17097	OMIM:617763	Short stature, hearing loss, retinitis pigmentosa, and distinctive facies	HP:0040284 - Very rare
HP:0000496	HP:0000486	Strabismus	2	EXOSC3 CL E G H	51010	17944	ORPHA:2254	Pontocerebellar hypoplasia type 1			38
HP:0000496	HP:0000639	Nystagmus	2	EXOSC3 CL E G H	51010	17944	ORPHA:2254	Pontocerebellar hypoplasia type 1			38
HP:0000496	HP:0000486	Strabismus	2	EXOSC3 CL E G H	51010	17944	OMIM:614678	Pontocerebellar hypoplasia, type 1B	.		38
HP:0000496	HP:0000639	Nystagmus	2	EXOSC3 CL E G H	51010	17944	OMIM:614678	Pontocerebellar hypoplasia, type 1B	.		38
HP:0000496	HP:0000486	Strabismus	2	EXOSC5 CL E G H	56915	24662	OMIM:619576	CEREBELLAR ATAXIA, BRAIN ABNORMALITIES, AND CARDIAC CONDUCTION DEFECTS; CABAC
HP:0000496	HP:0000639	Nystagmus	2	EXOSC5 CL E G H	56915	24662	OMIM:619576	CEREBELLAR ATAXIA, BRAIN ABNORMALITIES, AND CARDIAC CONDUCTION DEFECTS; CABAC
HP:0000496	HP:0000486	Strabismus	2	EXOSC8 CL E G H	11340	17035	ORPHA:2254	Pontocerebellar hypoplasia type 1			4
HP:0000496	HP:0000639	Nystagmus	2	EXOSC8 CL E G H	11340	17035	ORPHA:2254	Pontocerebellar hypoplasia type 1			4
HP:0000496	HP:0000486	Strabismus	2	EXOSC9 CL E G H	5393	9137	ORPHA:2254	Pontocerebellar hypoplasia type 1
HP:0000496	HP:0000639	Nystagmus	2	EXOSC9 CL E G H	5393	9137	ORPHA:2254	Pontocerebellar hypoplasia type 1
HP:0000496	HP:0000486	Strabismus	2	EXOSC9 CL E G H	5393	9137	OMIM:618065	Pontocerebellar hypoplasia, type 1D
HP:0000496	HP:0000639	Nystagmus	2	EXOSC9 CL E G H	5393	9137	OMIM:618065	Pontocerebellar hypoplasia, type 1D	.
HP:0000496	HP:0000486	Strabismus	2	EXT2 CL E G H	2132	3513	ORPHA:52022	Potocki-Shaffer syndrome	HP:0040282 - Frequent		102
HP:0000496	HP:0000639	Nystagmus	2	EXT2 CL E G H	2132	3513	ORPHA:52022	Potocki-Shaffer syndrome	HP:0040282 - Frequent		102
HP:0000496	HP:0000486	Strabismus	2	EXT2 CL E G H	2132	3513	OMIM:616682	Seizures, scoliosis, and macrocephaly/microcephaly syndrome	.		102
HP:0000496	HP:0000639	Nystagmus	2	EXTL3 CL E G H	2137	3518	ORPHA:508533	Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome	HP:0040283 - Occasional		3
HP:0000496	HP:0000602	Ophthalmoplegia	2	EYS CL E G H	346007	21555	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		209
HP:0000496	HP:0000639	Nystagmus	2	EYS CL E G H	346007	21555	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		209
HP:0000496	HP:0000486	Strabismus	2	EZH2 CL E G H	2146	3527	OMIM:277590	Weaver syndrome	.		81
HP:0000496	HP:0000602	Ophthalmoplegia	2	FA2H CL E G H	79152	21197	ORPHA:171629	Autosomal recessive spastic paraplegia type 35	HP:0040284 - Very rare		76
HP:0000496	HP:0000486	Strabismus	2	FA2H CL E G H	79152	21197	ORPHA:329308	Fatty acid hydroxylase-associated neurodegeneration	HP:0040283 - Occasional		76
HP:0000496	HP:0000605	Supranuclear gaze palsy	2	FA2H CL E G H	79152	21197	ORPHA:329308	Fatty acid hydroxylase-associated neurodegeneration	HP:0040282 - Frequent		76
HP:0000496	HP:0000639	Nystagmus	2	FA2H CL E G H	79152	21197	ORPHA:329308	Fatty acid hydroxylase-associated neurodegeneration			76
HP:0000496	HP:0000486	Strabismus	2	FA2H CL E G H	79152	21197	OMIM:612319	Spastic paraplegia 35, autosomal recessive	.		76
HP:0000496	HP:0000602	Ophthalmoplegia	2	FA2H CL E G H	79152	21197	OMIM:612319	Spastic paraplegia 35, autosomal recessive			76
HP:0000496	HP:0000639	Nystagmus	2	FA2H CL E G H	79152	21197	OMIM:612319	Spastic paraplegia 35, autosomal recessive	.		76
HP:0000496	HP:0000486	Strabismus	2	FAM149B1 CL E G H	317662	29162	OMIM:618763	JOUBERT SYNDROME 36; JBTS36
HP:0000496	HP:0000486	Strabismus	2	FAM149B1 CL E G H	317662	29162	ORPHA:2754	Orofaciodigital syndrome type 6
HP:0000496	HP:0000639	Nystagmus	2	FAM149B1 CL E G H	317662	29162	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040282 - Frequent
HP:0000496	HP:0000602	Ophthalmoplegia	2	FAM161A CL E G H	84140	25808	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		56
HP:0000496	HP:0000639	Nystagmus	2	FAM161A CL E G H	84140	25808	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		56
HP:0000496	HP:0000486	Strabismus	2	FAM50A CL E G H	9130	18786	OMIM:300261	Mental retardation syndrome, X-linked, Armfield type	HP:0040283 - Occasional
HP:0000496	HP:0000486	Strabismus	2	FANCA CL E G H	2175	3582	OMIM:227650	Fanconi anemia	.		340
HP:0000496	HP:0000486	Strabismus	2	FANCA CL E G H	2175	3582	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		340
HP:0000496	HP:0000639	Nystagmus	2	FANCA CL E G H	2175	3582	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		340
HP:0000496	HP:0000486	Strabismus	2	FANCB CL E G H	2187	3583	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		58
HP:0000496	HP:0000639	Nystagmus	2	FANCB CL E G H	2187	3583	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		58
HP:0000496	HP:0000486	Strabismus	2	FANCC CL E G H	2176	3584	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		410
HP:0000496	HP:0000639	Nystagmus	2	FANCC CL E G H	2176	3584	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		410
HP:0000496	HP:0000486	Strabismus	2	FANCC CL E G H	2176	3584	OMIM:227645	Fanconi anemia, complementation group C	.		410
HP:0000496	HP:0000486	Strabismus	2	FANCD2 CL E G H	2177	3585	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		147
HP:0000496	HP:0000639	Nystagmus	2	FANCD2 CL E G H	2177	3585	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		147
HP:0000496	HP:0000486	Strabismus	2	FANCD2 CL E G H	2177	3585	OMIM:227646	Fanconi anemia, complementation group D2			147
HP:0000496	HP:0000486	Strabismus	2	FANCE CL E G H	2178	3586	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		73
HP:0000496	HP:0000639	Nystagmus	2	FANCE CL E G H	2178	3586	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		73
HP:0000496	HP:0000486	Strabismus	2	FANCE CL E G H	2178	3586	OMIM:600901	Fanconi anemia, complementation group E	.		73
HP:0000496	HP:0000486	Strabismus	2	FANCF CL E G H	2188	3587	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		87
HP:0000496	HP:0000639	Nystagmus	2	FANCF CL E G H	2188	3587	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		87
HP:0000496	HP:0000486	Strabismus	2	FANCG CL E G H	2189	3588	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		73
HP:0000496	HP:0000639	Nystagmus	2	FANCG CL E G H	2189	3588	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		73
HP:0000496	HP:0000486	Strabismus	2	FANCI CL E G H	55215	25568	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		157
HP:0000496	HP:0000639	Nystagmus	2	FANCI CL E G H	55215	25568	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		157
HP:0000496	HP:0000486	Strabismus	2	FANCL CL E G H	55120	20748	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		53
HP:0000496	HP:0000639	Nystagmus	2	FANCL CL E G H	55120	20748	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		53
HP:0000496	HP:0000486	Strabismus	2	FANCM CL E G H	57697	23168	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		107
HP:0000496	HP:0000639	Nystagmus	2	FANCM CL E G H	57697	23168	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		107
HP:0000496	HP:0000639	Nystagmus	2	FAR1 CL E G H	84188	26222	ORPHA:447753	Autosomal dominant spastic paraplegia type 9A			7
HP:0000496	HP:0000486	Strabismus	2	FARS2 CL E G H	10667	21062	ORPHA:466722	Autosomal recessive spastic paraplegia type 77	HP:0040283 - Occasional		36
HP:0000496	HP:0000639	Nystagmus	2	FASTKD2 CL E G H	22868	29160	OMIM:618855	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 44; COXPD44			122
HP:0000496	HP:0000639	Nystagmus	2	FAT2 CL E G H	2196	3596	OMIM:617769	Spinocerebellar ataxia 45	HP:0040284 - Very rare		2
HP:0000496	HP:0000486	Strabismus	2	FBLN5 CL E G H	10516	3602	ORPHA:90348	Autosomal dominant cutis laxa			63
HP:0000496	HP:0000639	Nystagmus	2	FBN1 CL E G H	2200	3603	ORPHA:1885	Isolated ectopia lentis	HP:0040283 - Occasional		1361
HP:0000496	HP:0000486	Strabismus	2	FBN1 CL E G H	2200	3603	OMIM:154700	Marfan syndrome			1361
HP:0000496	HP:0000486	Strabismus	2	FBN1 CL E G H	2200	3603	ORPHA:2462	Shprintzen-Goldberg syndrome	HP:0040282 - Frequent		1361
HP:0000496	HP:0000486	Strabismus	2	FBN1 CL E G H	2200	3603	ORPHA:2833	Stiff skin syndrome	HP:0040283 - Occasional		1361
HP:0000496	HP:0000486	Strabismus	2	FBXL3 CL E G H	26224	13599	OMIM:606220	Intellectual developmental disorder with short stature, facial anomalies, and speech defects	.
HP:0000496	HP:0000639	Nystagmus	2	FBXL4 CL E G H	26235	13601	OMIM:615471	Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)	HP:0040283 - Occasional		384
HP:0000496	HP:0000486	Strabismus	2	FBXO11 CL E G H	80204	13590	OMIM:618089	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities	.		7
HP:0000496	HP:0000486	Strabismus	2	FBXO28 CL E G H	23219	29046	OMIM:619777	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100
HP:0000496	HP:0000514	Slow saccadic eye movements	2	FBXO7 CL E G H	25793	13586	OMIM:260300	Parkinson disease 15, autosomal recessive early-onset	.		36
HP:0000496	HP:0000514	Slow saccadic eye movements	2	FBXO7 CL E G H	25793	13586	ORPHA:171695	Parkinsonian-pyramidal syndrome	HP:0040282 - Frequent		36
HP:0000496	HP:0000486	Strabismus	2	FBXW11 CL E G H	23291	13607	OMIM:618914	NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME; NEDJED
HP:0000496	HP:0000486	Strabismus	2	FBXW7 CL E G H	55294	16712	OMIM:620012				22
HP:0000496	HP:0000486	Strabismus	2	FCSK CL E G H	197258	29500	OMIM:618324	Congenital disorder of glycosylation with defective fucosylation 2	.
HP:0000496	HP:0000639	Nystagmus	2	FCSK CL E G H	197258	29500	OMIM:618324	Congenital disorder of glycosylation with defective fucosylation 2	.
HP:0000496	HP:0000639	Nystagmus	2	FDX2 CL E G H	112812	30546	OMIM:251900	Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy	HP:0040284 - Very rare
HP:0000496	HP:0000639	Nystagmus	2	FDXR CL E G H	2232	3642	OMIM:617717	Auditory neuropathy and optic atrophy	.
HP:0000496	HP:0000639	Nystagmus	2	FDXR CL E G H	2232	3642	ORPHA:543470	Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome	HP:0040283 - Occasional
HP:0000496	HP:0000639	Nystagmus	2	FEZF1 CL E G H	389549	22788	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional		2
HP:0000496	HP:0000486	Strabismus	2	FGD1 CL E G H	2245	3663	OMIM:305400	Aarskog-Scott syndrome	.		62
HP:0000496	HP:0000486	Strabismus	2	FGD1 CL E G H	2245	3663	ORPHA:915	Aarskog-Scott syndrome	HP:0040283 - Occasional		62
HP:0000496	HP:0000486	Strabismus	2	FGF10 CL E G H	2255	3666	ORPHA:2363	Lacrimoauriculodentodigital syndrome			17
HP:0000496	HP:0000639	Nystagmus	2	FGF12 CL E G H	2257	3668	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		3
HP:0000496	HP:0000639	Nystagmus	2	FGF13 CL E G H	2258	3670	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		1
HP:0000496	HP:0000486	Strabismus	2	FGF14 CL E G H	2259	3671	OMIM:193003	Nystagmus 4, congenital, autosomal dominant	.		47
HP:0000496	HP:0000639	Nystagmus	2	FGF14 CL E G H	2259	3671	OMIM:193003	Nystagmus 4, congenital, autosomal dominant			47
HP:0000496	HP:0007772	Impaired smooth pursuit	2	FGF14 CL E G H	2259	3671	OMIM:193003	Nystagmus 4, congenital, autosomal dominant	.		47
HP:0000496	HP:0000486	Strabismus	2	FGF14 CL E G H	2259	3671	ORPHA:98764	Spinocerebellar ataxia type 27	HP:0040283 - Occasional		47
HP:0000496	HP:0000639	Nystagmus	2	FGF14 CL E G H	2259	3671	ORPHA:98764	Spinocerebellar ataxia type 27			47
HP:0000496	HP:0000639	Nystagmus	2	FGF17 CL E G H	8822	3673	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional		3
HP:0000496	HP:0000486	Strabismus	2	FGF3 CL E G H	2248	3681	ORPHA:90024	Deafness with labyrinthine aplasia, microtia, and microdontia	HP:0040283 - Occasional		18
HP:0000496	HP:0000639	Nystagmus	2	FGF8 CL E G H	2253	3686	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional		17
HP:0000496	HP:0000486	Strabismus	2	FGF8 CL E G H	2253	3686	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional		17
HP:0000496	HP:0000639	Nystagmus	2	FGFR1 CL E G H	2260	3688	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional		172
HP:0000496	HP:0000486	Strabismus	2	FGFR1 CL E G H	2260	3688	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional		172
HP:0000496	HP:0000486	Strabismus	2	FGFR1 CL E G H	2260	3688	OMIM:101600	Pfeiffer syndrome	.		172
HP:0000496	HP:0000486	Strabismus	2	FGFR1 CL E G H	2260	3688	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040282 - Frequent		172
HP:0000496	HP:0000639	Nystagmus	2	FGFR1 CL E G H	2260	3688	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040282 - Frequent		172
HP:0000496	HP:0000486	Strabismus	2	FGFR2 CL E G H	2263	3689	ORPHA:87	Apert syndrome	HP:0040282 - Frequent		175
HP:0000496	HP:0000486	Strabismus	2	FGFR2 CL E G H	2263	3689	OMIM:101200	Apert syndrome	.		175
HP:0000496	HP:0000486	Strabismus	2	FGFR2 CL E G H	2263	3689	ORPHA:207	Crouzon disease	HP:0040282 - Frequent		175
HP:0000496	HP:0000486	Strabismus	2	FGFR2 CL E G H	2263	3689	OMIM:123500	Crouzon syndrome	.		175
HP:0000496	HP:0000486	Strabismus	2	FGFR2 CL E G H	2263	3689	ORPHA:1540	Jackson-Weiss syndrome	HP:0040282 - Frequent		175
HP:0000496	HP:0000486	Strabismus	2	FGFR2 CL E G H	2263	3689	ORPHA:2363	Lacrimoauriculodentodigital syndrome			175
HP:0000496	HP:0000486	Strabismus	2	FGFR2 CL E G H	2263	3689	OMIM:101600	Pfeiffer syndrome	.		175
HP:0000496	HP:0000486	Strabismus	2	FGFR2 CL E G H	2263	3689	OMIM:101400	Saethre-Chotzen syndrome	.		175
HP:0000496	HP:0000486	Strabismus	2	FGFR2 CL E G H	2263	3689	ORPHA:794	Saethre-Chotzen syndrome	HP:0040282 - Frequent		175
HP:0000496	HP:0000486	Strabismus	2	FGFR3 CL E G H	2261	3690	OMIM:616482	Achondroplasia, severe, with developmental delay and acanthosis nigricans			145
HP:0000496	HP:0000486	Strabismus	2	FGFR3 CL E G H	2261	3690	ORPHA:93262	Crouzon syndrome-acanthosis nigricans syndrome	HP:0040282 - Frequent		145
HP:0000496	HP:0000486	Strabismus	2	FGFR3 CL E G H	2261	3690	ORPHA:2363	Lacrimoauriculodentodigital syndrome			145
HP:0000496	HP:0000486	Strabismus	2	FGFR3 CL E G H	2261	3690	OMIM:602849	Muenke syndrome			145
HP:0000496	HP:0000486	Strabismus	2	FGFR3 CL E G H	2261	3690	ORPHA:794	Saethre-Chotzen syndrome	HP:0040282 - Frequent		145
HP:0000496	HP:0000486	Strabismus	2	FGFRL1 CL E G H	53834	3693	OMIM:194190	Wolf-Hirschhorn syndrome
HP:0000496	HP:0000639	Nystagmus	2	FGFRL1 CL E G H	53834	3693	OMIM:194190	Wolf-Hirschhorn syndrome
HP:0000496	HP:0000486	Strabismus	2	FIBP CL E G H	9158	3705	ORPHA:500095	Tall stature-intellectual disability-renal anomalies syndrome	HP:0040283 - Occasional		2
HP:0000496	HP:0000486	Strabismus	2	FIBP CL E G H	9158	3705	OMIM:617107	Thauvin-Robinet-Faivre syndrome	.		2
HP:0000496	HP:0000486	Strabismus	2	FIG4 CL E G H	9896	16873	ORPHA:208441	Bilateral parasagittal parieto-occipital polymicrogyria	HP:0040283 - Occasional		111
HP:0000496	HP:0000486	Strabismus	2	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0000496	HP:0000639	Nystagmus	2	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome
HP:0000496	HP:0000486	Strabismus	2	FKRP CL E G H	79147	17997	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040283 - Occasional		157
HP:0000496	HP:0000486	Strabismus	2	FKRP CL E G H	79147	17997	ORPHA:370968	Congenital muscular dystrophy with intellectual disability	HP:0040283 - Occasional		157
HP:0000496	HP:0000486	Strabismus	2	FKRP CL E G H	79147	17997	ORPHA:588	Muscle-eye-brain disease	HP:0040281 - Very frequent		157
HP:0000496	HP:0000486	Strabismus	2	FKTN CL E G H	2218	3622	ORPHA:588	Muscle-eye-brain disease	HP:0040281 - Very frequent		184
HP:0000496	HP:0000486	Strabismus	2	FKTN CL E G H	2218	3622	OMIM:253800	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4	.		184
HP:0000496	HP:0000486	Strabismus	2	FLI1 CL E G H	2313	3749	ORPHA:2308	Jacobsen syndrome	HP:0040282 - Frequent		8
HP:0000496	HP:0000486	Strabismus	2	FLII CL E G H	2314	3750	ORPHA:819	Smith-Magenis syndrome	HP:0040282 - Frequent
HP:0000496	HP:0000486	Strabismus	2	FLNA CL E G H	2316	3754	OMIM:300049	Heterotopia, periventricular, X-linked dominant			493
HP:0000496	HP:0000486	Strabismus	2	FLNA CL E G H	2316	3754	OMIM:309350	Melnick-Needles syndrome	.		493
HP:0000496	HP:0000639	Nystagmus	2	FLRT1 CL E G H	23769	3760	ORPHA:320406	Spastic paraplegia-optic atrophy-neuropathy syndrome	HP:0040283 - Occasional
HP:0000496	HP:0000639	Nystagmus	2	FLRT3 CL E G H	23767	3762	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional		4
HP:0000496	HP:0000486	Strabismus	2	FMR1 CL E G H	2332	3775	ORPHA:908	Fragile X syndrome	HP:0040283 - Occasional		30
HP:0000496	HP:0000639	Nystagmus	2	FMR1 CL E G H	2332	3775	OMIM:300623	Fragile X tremor/ataxia syndrome	.		30
HP:0000496	HP:0001152	Saccadic smooth pursuit	2	FMR1 CL E G H	2332	3775	OMIM:300623	Fragile X tremor/ataxia syndrome			30
HP:0000496	HP:0000486	Strabismus	2	FMR1 CL E G H	2332	3775	ORPHA:449291	Symptomatic form of fragile X syndrome in female carriers	HP:0040284 - Very rare		30
HP:0000496	HP:0000486	Strabismus	2	FN1 CL E G H	2335	3778	ORPHA:93315	Spondylometaphyseal dysplasia, 'corner fracture' type	HP:0040284 - Very rare		9
HP:0000496	HP:0000639	Nystagmus	2	FOCAD CL E G H	54914	23377	OMIM:619991				3
HP:0000496	HP:0000639	Nystagmus	2	FOXC1 CL E G H	2296	3800	ORPHA:250923	Isolated aniridia	HP:0040281 - Very frequent		63
HP:0000496	HP:0000486	Strabismus	2	FOXC1 CL E G H	2296	3800	ORPHA:708	Peters anomaly	HP:0040284 - Very rare		63
HP:0000496	HP:0000639	Nystagmus	2	FOXC1 CL E G H	2296	3800	ORPHA:708	Peters anomaly	HP:0040284 - Very rare		63
HP:0000496	HP:0000639	Nystagmus	2	FOXE3 CL E G H	2301	3808	OMIM:610256	Anterior segment dysgenesis 2	.		23
HP:0000496	HP:0000486	Strabismus	2	FOXE3 CL E G H	2301	3808	ORPHA:708	Peters anomaly	HP:0040284 - Very rare		23
HP:0000496	HP:0000639	Nystagmus	2	FOXE3 CL E G H	2301	3808	ORPHA:708	Peters anomaly	HP:0040284 - Very rare		23
HP:0000496	HP:0000486	Strabismus	2	FOXH1 CL E G H	8928	3814	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional		48
HP:0000496	HP:0000486	Strabismus	2	FOXL2 CL E G H	668	1092	OMIM:110100	Blepharophimosis, epicanthus inversus, and ptosis	.		92
HP:0000496	HP:0000639	Nystagmus	2	FOXL2 CL E G H	668	1092	OMIM:110100	Blepharophimosis, epicanthus inversus, and ptosis	.		92
HP:0000496	HP:0000486	Strabismus	2	FOXL2 CL E G H	668	1092	ORPHA:572333	Blepharophimosis-ptosis-epicanthus inversus syndrome plus	HP:0040283 - Occasional		92
HP:0000496	HP:0000639	Nystagmus	2	FOXL2 CL E G H	668	1092	ORPHA:572333	Blepharophimosis-ptosis-epicanthus inversus syndrome plus	HP:0040284 - Very rare		92
HP:0000496	HP:0000486	Strabismus	2	FOXP1 CL E G H	27086	3823	ORPHA:391372	Intellectual disability-severe speech delay-mild dysmorphism syndrome	HP:0040282 - Frequent		184
HP:0000496	HP:0000639	Nystagmus	2	FOXP1 CL E G H	27086	3823	ORPHA:391372	Intellectual disability-severe speech delay-mild dysmorphism syndrome	HP:0040283 - Occasional		184
HP:0000496	HP:0000486	Strabismus	2	FOXP1 CL E G H	27086	3823	OMIM:613670	Mental retardation with language impairment and with or without autistic features			184
HP:0000496	HP:0000639	Nystagmus	2	FOXP1 CL E G H	27086	3823	OMIM:613670	Mental retardation with language impairment and with or without autistic features			184
HP:0000496	HP:0000486	Strabismus	2	FOXRED1 CL E G H	55572	26927	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		61
HP:0000496	HP:0000639	Nystagmus	2	FOXRED1 CL E G H	55572	26927	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		61
HP:0000496	HP:0007704	Paroxysmal involuntary eye movements	2	FOXRED1 CL E G H	55572	26927	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		61
HP:0000496	HP:0000486	Strabismus	2	FOXRED1 CL E G H	55572	26927	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		61
HP:0000496	HP:0000602	Ophthalmoplegia	2	FOXRED1 CL E G H	55572	26927	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		61
HP:0000496	HP:0000639	Nystagmus	2	FOXRED1 CL E G H	55572	26927	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		61
HP:0000496	HP:0000602	Ophthalmoplegia	2	FRG1 CL E G H	2483	3954	OMIM:158900	Facioscapulohumeral muscular dystrophy 1			1
HP:0000496	HP:0000486	Strabismus	2	FRMD4A CL E G H	55691	25491	OMIM:616819	Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia			1
HP:0000496	HP:0000486	Strabismus	2	FRMD4A CL E G H	55691	25491	ORPHA:466688	Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome	HP:0040282 - Frequent		1
HP:0000496	HP:0000486	Strabismus	2	FRMD5 CL E G H	84978	28214	OMIM:620094
HP:0000496	HP:0000639	Nystagmus	2	FRMD5 CL E G H	84978	28214	OMIM:620094
HP:0000496	HP:0010543	Opsoclonus	2	FRMD5 CL E G H	84978	28214	OMIM:620094
HP:0000496	HP:0032104	Saccadic oscillation	2	FRMD5 CL E G H	84978	28214	OMIM:620094
HP:0000496	HP:0000639	Nystagmus	2	FRMD7 CL E G H	90167	8079	OMIM:310700	Nystagmus 1, congenital, X-linked			38
HP:0000496	HP:0000486	Strabismus	2	FRMPD4 CL E G H	9758	29007	OMIM:300983	MENTAL RETARDATION, X-LINKED 104; MRX104			32
HP:0000496	HP:0000639	Nystagmus	2	FRMPD4 CL E G H	9758	29007	OMIM:300983	MENTAL RETARDATION, X-LINKED 104; MRX104			32
HP:0000496	HP:0000639	Nystagmus	2	FRRS1L CL E G H	23732	1362	OMIM:616981	Epileptic encephalopathy, early infantile, 37	HP:0040283 - Occasional		4
HP:0000496	HP:0000602	Ophthalmoplegia	2	FSCN2 CL E G H	25794	3960	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		26
HP:0000496	HP:0000639	Nystagmus	2	FSCN2 CL E G H	25794	3960	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		26
HP:0000496	HP:0000605	Supranuclear gaze palsy	2	FTL CL E G H	2512	3999	ORPHA:157846	Neuroferritinopathy			33
HP:0000496	HP:0007772	Impaired smooth pursuit	2	FTL CL E G H	2512	3999	ORPHA:157846	Neuroferritinopathy	HP:0040283 - Occasional		33
HP:0000496	HP:0000605	Supranuclear gaze palsy	2	FUS CL E G H	2521	4010	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040283 - Occasional		105
HP:0000496	HP:0000605	Supranuclear gaze palsy	2	FUS CL E G H	2521	4010	ORPHA:300605	Juvenile amyotrophic lateral sclerosis	HP:0040283 - Occasional		105
HP:0000496	HP:0000639	Nystagmus	2	FUS CL E G H	2521	4010	ORPHA:300605	Juvenile amyotrophic lateral sclerosis	HP:0040283 - Occasional		105
HP:0000496	HP:0000639	Nystagmus	2	FUZ CL E G H	80199	26219	ORPHA:1136	Arnold-Chiari malformation type II	HP:0040283 - Occasional		3
HP:0000496	HP:0000639	Nystagmus	2	FXN CL E G H	2395	3951	ORPHA:95	Friedreich ataxia	HP:0040282 - Frequent		18
HP:0000496	HP:0000639	Nystagmus	2	FXN CL E G H	2395	3951	OMIM:229300	Friedreich ataxia 1	.		18
HP:0000496	HP:0000486	Strabismus	2	FZD2 CL E G H	2535	4040	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040283 - Occasional
HP:0000496	HP:0000486	Strabismus	2	FZD4 CL E G H	8322	4042	OMIM:133780	Exudative vitreoretinopathy 1			109
HP:0000496	HP:0000486	Strabismus	2	FZD4 CL E G H	8322	4042	ORPHA:91495	Persistent hyperplastic primary vitreous			109
HP:0000496	HP:0000639	Nystagmus	2	FZR1 CL E G H	51343	24824	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional
HP:0000496	HP:0000639	Nystagmus	2	GABBR2 CL E G H	9568	4507	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		5
HP:0000496	HP:0007738	Uncontrolled eye movements	2	GABRA1 CL E G H	2554	4075	ORPHA:64280	Childhood absence epilepsy	HP:0040283 - Occasional		134
HP:0000496	HP:0000639	Nystagmus	2	GABRA2 CL E G H	2555	4076	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		4
HP:0000496	HP:0000639	Nystagmus	2	GABRA5 CL E G H	2558	4079	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional
HP:0000496	HP:0000639	Nystagmus	2	GABRB2 CL E G H	2561	4082	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		44
HP:0000496	HP:0007738	Uncontrolled eye movements	2	GABRB3 CL E G H	2562	4083	ORPHA:64280	Childhood absence epilepsy	HP:0040283 - Occasional		57
HP:0000496	HP:0000486	Strabismus	2	GABRD CL E G H	2563	4084	ORPHA:1606	1p36 deletion syndrome	HP:0040282 - Frequent		10
HP:0000496	HP:0000639	Nystagmus	2	GABRD CL E G H	2563	4084	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		10
HP:0000496	HP:0007738	Uncontrolled eye movements	2	GABRG2 CL E G H	2566	4087	ORPHA:64280	Childhood absence epilepsy	HP:0040283 - Occasional		139
HP:0000496	HP:0000639	Nystagmus	2	GABRG2 CL E G H	2566	4087	OMIM:618396	Epileptic encephalopathy, early infantile, 74	.		139
HP:0000496	HP:0000639	Nystagmus	2	GABRG2 CL E G H	2566	4087	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		139
HP:0000496	HP:0000639	Nystagmus	2	GALC CL E G H	2581	4115	OMIM:245200	Krabbe disease	.		160
HP:0000496	HP:0000486	Strabismus	2	GALC CL E G H	2581	4115	ORPHA:206443	Late-infantile/juvenile Krabbe disease			160
HP:0000496	HP:0000486	Strabismus	2	GALNT2 CL E G H	2590	4124	OMIM:618885	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt; CDG2T
HP:0000496	HP:0000639	Nystagmus	2	GALNT2 CL E G H	2590	4124	OMIM:618885	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt; CDG2T
HP:0000496	HP:0000486	Strabismus	2	GAN CL E G H	8139	4137	OMIM:256850	Giant axonal neuropathy 1, autosomal recessive			121
HP:0000496	HP:0000639	Nystagmus	2	GAN CL E G H	8139	4137	OMIM:256850	Giant axonal neuropathy 1, autosomal recessive	.		121
HP:0000496	HP:0000486	Strabismus	2	GAS1 CL E G H	2619	4165	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional		2
HP:0000496	HP:0000486	Strabismus	2	GATA1 CL E G H	2623	4170	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare		29
HP:0000496	HP:0000639	Nystagmus	2	GATA1 CL E G H	2623	4170	OMIM:190685	Down syndrometrisomy 21, included			29
HP:0000496	HP:0000639	Nystagmus	2	GATA3 CL E G H	2625	4172	OMIM:146255	Hypoparathyroidism, sensorineural deafness, and renal dysplasia			83
HP:0000496	HP:0000486	Strabismus	2	GATA4 CL E G H	2626	4173	ORPHA:251071	8p23.1 microdeletion syndrome	HP:0040283 - Occasional		87
HP:0000496	HP:0000486	Strabismus	2	GATAD2B CL E G H	57459	30778	OMIM:615074	Mental retardation, autosomal dominant 18			33
HP:0000496	HP:0000486	Strabismus	2	GATAD2B CL E G H	57459	30778	ORPHA:363686	Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome	HP:0040282 - Frequent		33
HP:0000496	HP:0000486	Strabismus	2	GBA1 CL E G H	2629	4177	ORPHA:77260	Gaucher disease type 2	HP:0040281 - Very frequent
HP:0000496	HP:0000602	Ophthalmoplegia	2	GBA1 CL E G H	2629	4177	ORPHA:77260	Gaucher disease type 2	HP:0040281 - Very frequent
HP:0000496	HP:0000486	Strabismus	2	GBA1 CL E G H	2629	4177	ORPHA:77261	Gaucher disease type 3	HP:0040281 - Very frequent
HP:0000496	HP:0000602	Ophthalmoplegia	2	GBA1 CL E G H	2629	4177	ORPHA:77261	Gaucher disease type 3	HP:0040281 - Very frequent
HP:0000496	HP:0000486	Strabismus	2	GBA1 CL E G H	2629	4177	OMIM:608013	Gaucher disease, perinatal lethal	.
HP:0000496	HP:0000486	Strabismus	2	GBA1 CL E G H	2629	4177	OMIM:230900	Gaucher disease, type II	.
HP:0000496	HP:0000486	Strabismus	2	GBA1 CL E G H	2629	4177	OMIM:231000	Gaucher disease, type III	.
HP:0000496	HP:0000605	Supranuclear gaze palsy	2	GBA1 CL E G H	2629	4177	OMIM:231000	Gaucher disease, type III
HP:0000496	HP:0000486	Strabismus	2	GBA1 CL E G H	2629	4177	OMIM:231005	Gaucher disease, type IIIC	.
HP:0000496	HP:0000514	Slow saccadic eye movements	2	GBA1 CL E G H	2629	4177	OMIM:231005	Gaucher disease, type IIIC
HP:0000496	HP:0000571	Hypometric saccades	2	GBA1 CL E G H	2629	4177	OMIM:231005	Gaucher disease, type IIIC
HP:0000496	HP:0000602	Ophthalmoplegia	2	GBA1 CL E G H	2629	4177	OMIM:231005	Gaucher disease, type IIIC
HP:0000496	HP:0000639	Nystagmus	2	GBA1 CL E G H	2629	4177	OMIM:231005	Gaucher disease, type IIIC
HP:0000496	HP:0000486	Strabismus	2	GBA1 CL E G H	2629	4177	ORPHA:2072	Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome	HP:0040283 - Occasional
HP:0000496	HP:0000602	Ophthalmoplegia	2	GBA1 CL E G H	2629	4177	ORPHA:2072	Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome	HP:0040283 - Occasional
HP:0000496	HP:0000605	Supranuclear gaze palsy	2	GBA1 CL E G H	2629	4177	ORPHA:2072	Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome	HP:0040284 - Very rare
HP:0000496	HP:0010543	Opsoclonus	2	GBA1 CL E G H	2629	4177	ORPHA:2072	Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome	HP:0040284 - Very rare
HP:0000496	HP:0032104	Saccadic oscillation	2	GBA1 CL E G H	2629	4177	ORPHA:2072	Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
HP:0000496	HP:0000639	Nystagmus	2	GBA2 CL E G H	57704	18986	ORPHA:352641	Autosomal recessive cerebellar ataxia with late-onset spasticity	HP:0040282 - Frequent		30
HP:0000496	HP:0000639	Nystagmus	2	GBA2 CL E G H	57704	18986	ORPHA:320391	Autosomal recessive spastic paraplegia type 46	HP:0040283 - Occasional		30
HP:0000496	HP:0008003	Jerky ocular pursuit movements	2	GBA2 CL E G H	57704	18986	ORPHA:320391	Autosomal recessive spastic paraplegia type 46	HP:0040283 - Occasional		30
HP:0000496	HP:0000639	Nystagmus	2	GBA2 CL E G H	57704	18986	OMIM:614409	Spastic paraplegia 46, autosomal recessive	.		30
HP:0000496	HP:0008003	Jerky ocular pursuit movements	2	GBA2 CL E G H	57704	18986	OMIM:614409	Spastic paraplegia 46, autosomal recessive	.		30
HP:0000496	HP:0000639	Nystagmus	2	GCH1 CL E G H	2643	4193	ORPHA:98808	Autosomal dominant dopa-responsive dystonia			86
HP:0000496	HP:0000639	Nystagmus	2	GCH1 CL E G H	2643	4193	OMIM:128230	Dystonia, DOPA-responsive, with or without hyperphenylalaninemia			86
HP:0000496	HP:0000639	Nystagmus	2	GDAP2 CL E G H	54834	18010	OMIM:618369	Spinocerebellar ataxia, autosomal recessive 27	.
HP:0000496	HP:0007338	Hypermetric saccades	2	GDAP2 CL E G H	54834	18010	OMIM:618369	Spinocerebellar ataxia, autosomal recessive 27	.
HP:0000496	HP:0000639	Nystagmus	2	GDF3 CL E G H	9573	4218	OMIM:613703	MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 6; MCOPCB6			7
HP:0000496	HP:0000486	Strabismus	2	GDF5 CL E G H	8200	4220	ORPHA:3250	Proximal symphalangism	HP:0040283 - Occasional		52
HP:0000496	HP:0000639	Nystagmus	2	GDF6 CL E G H	392255	4221	ORPHA:65	Leber congenital amaurosis	HP:0040282 - Frequent		64
HP:0000496	HP:0000639	Nystagmus	2	GDF6 CL E G H	392255	4221	OMIM:613703	MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 6; MCOPCB6			64
HP:0000496	HP:0000639	Nystagmus	2	GFAP CL E G H	2670	4235	OMIM:203450	Alexander disease			188
HP:0000496	HP:0000639	Nystagmus	2	GFAP CL E G H	2670	4235	ORPHA:363722	Alexander disease type II			188
HP:0000496	HP:0000639	Nystagmus	2	GFER CL E G H	2671	4236	ORPHA:330054	Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome			14
HP:0000496	HP:0000639	Nystagmus	2	GFM1 CL E G H	85476	13780	OMIM:609060	Combined oxidative phosphorylation deficiency 1	.		85
HP:0000496	HP:0000486	Strabismus	2	GFPT1 CL E G H	2673	4241	OMIM:608931	Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency	.		128
HP:0000496	HP:0000486	Strabismus	2	GGCX CL E G H	2677	4247	ORPHA:436274	Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa	HP:0040281 - Very frequent		129
HP:0000496	HP:0000486	Strabismus	2	GGT1 CL E G H	2678	4250	OMIM:231950	GLUTATHIONURIA	HP:0040284 - Very rare
HP:0000496	HP:0000602	Ophthalmoplegia	2	GIPC1 CL E G H	10755	1226	ORPHA:98897	Oculopharyngodistal myopathy
HP:0000496	HP:0000602	Ophthalmoplegia	2	GIPC1 CL E G H	10755	1226	OMIM:618940	OCULOPHARYNGODISTAL MYOPATHY 2; OPDM2
HP:0000496	HP:0000486	Strabismus	2	GJA1 CL E G H	2697	4274	ORPHA:2710	Oculodentodigital dysplasia	HP:0040283 - Occasional		68
HP:0000496	HP:0000639	Nystagmus	2	GJA1 CL E G H	2697	4274	ORPHA:2710	Oculodentodigital dysplasia	HP:0040283 - Occasional		68
HP:0000496	HP:0000486	Strabismus	2	GJA5 CL E G H	2702	4279	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb			39
HP:0000496	HP:0000639	Nystagmus	2	GJA8 CL E G H	2703	4281	ORPHA:1377	Cataract-microcornea syndrome	HP:0040283 - Occasional		34
HP:0000496	HP:0000486	Strabismus	2	GJA8 CL E G H	2703	4281	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb			34
HP:0000496	HP:0000639	Nystagmus	2	GJB1 CL E G H	2705	4283	OMIM:302800	Charcot-Marie-Tooth neuropathy, X-linked dominant, 1	HP:0040283 - Occasional		107
HP:0000496	HP:0000639	Nystagmus	2	GJB1 CL E G H	2705	4283	ORPHA:1175	X-linked progressive cerebellar ataxia	HP:0040282 - Frequent		107
HP:0000496	HP:0001152	Saccadic smooth pursuit	2	GJB1 CL E G H	2705	4283	ORPHA:1175	X-linked progressive cerebellar ataxia	HP:0040282 - Frequent		107
HP:0000496	HP:0000486	Strabismus	2	GJB6 CL E G H	10804	4288	OMIM:129500	Clouston syndrome	.		56
HP:0000496	HP:0000486	Strabismus	2	GJC2 CL E G H	57165	17494	ORPHA:320401	Autosomal recessive spastic paraplegia type 44	HP:0040281 - Very frequent		37
HP:0000496	HP:0000639	Nystagmus	2	GJC2 CL E G H	57165	17494	OMIM:608804	Leukodystrophy, hypomyelinating, 2			37
HP:0000496	HP:0000514	Slow saccadic eye movements	2	GJC2 CL E G H	57165	17494	OMIM:613206	Spastic paraplegia 44, autosomal recessive	.		37
HP:0000496	HP:0000486	Strabismus	2	GK CL E G H	2710	4289	OMIM:307030	Glycerol kinase deficiency	.		13
HP:0000496	HP:0000486	Strabismus	2	GLI1 CL E G H	2735	4317	ORPHA:289	Ellis Van Creveld syndrome	HP:0040282 - Frequent		1
HP:0000496	HP:0000486	Strabismus	2	GLI2 CL E G H	2736	4318	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional		173
HP:0000496	HP:0000486	Strabismus	2	GLRB CL E G H	2743	4329	OMIM:614619	Hyperekplexia 2			46
HP:0000496	HP:0000639	Nystagmus	2	GLRX5 CL E G H	51218	20134	ORPHA:401866	Childhood-onset spasticity with hyperglycinemia	HP:0040282 - Frequent		17
HP:0000496	HP:0000486	Strabismus	2	GLRX5 CL E G H	51218	20134	OMIM:616859	Spasticity, childhood-onset, with hyperglycinemia			17
HP:0000496	HP:0000639	Nystagmus	2	GLRX5 CL E G H	51218	20134	OMIM:616859	Spasticity, childhood-onset, with hyperglycinemia			17
HP:0000496	HP:0000486	Strabismus	2	GMNN CL E G H	51053	17493	OMIM:616835	Meier-Gorlin syndrome 6	.		3
HP:0000496	HP:0000486	Strabismus	2	GMPPA CL E G H	29926	22923	OMIM:615510	Alacrima, achalasia, and mental retardation syndrome	HP:0040283 - Occasional		24
HP:0000496	HP:0000639	Nystagmus	2	GMPPA CL E G H	29926	22923	OMIM:615510	Alacrima, achalasia, and mental retardation syndrome	HP:0040283 - Occasional		24
HP:0000496	HP:0000486	Strabismus	2	GMPPB CL E G H	29925	22932	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040283 - Occasional		34
HP:0000496	HP:0000486	Strabismus	2	GMPPB CL E G H	29925	22932	ORPHA:370968	Congenital muscular dystrophy with intellectual disability	HP:0040283 - Occasional		34
HP:0000496	HP:0000639	Nystagmus	2	GMPPB CL E G H	29925	22932	ORPHA:363623	GMPPB-related limb-girdle muscular dystrophy R19	HP:0040283 - Occasional		34
HP:0000496	HP:0000486	Strabismus	2	GMPPB CL E G H	29925	22932	ORPHA:588	Muscle-eye-brain disease	HP:0040281 - Very frequent		34
HP:0000496	HP:0000486	Strabismus	2	GMPPB CL E G H	29925	22932	OMIM:615351	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14	HP:0040283 - Occasional		34
HP:0000496	HP:0000639	Nystagmus	2	GMPPB CL E G H	29925	22932	OMIM:615351	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14	HP:0040283 - Occasional		34
HP:0000496	HP:0000639	Nystagmus	2	GMPPB CL E G H	29925	22932	OMIM:615352	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14	HP:0040283 - Occasional		34
HP:0000496	HP:0000486	Strabismus	2	GNA14 CL E G H	9630	4382	ORPHA:1063	Tufted angioma
HP:0000496	HP:0000486	Strabismus	2	GNAO1 CL E G H	2775	4389	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare		36
HP:0000496	HP:0000486	Strabismus	2	GNAQ CL E G H	2776	4390	ORPHA:3205	Sturge-Weber syndrome	HP:0040282 - Frequent		7
HP:0000496	HP:0000486	Strabismus	2	GNAS CL E G H	2778	4392	ORPHA:79443	Pseudohypoparathyroidism type 1A	HP:0040283 - Occasional		101
HP:0000496	HP:0000639	Nystagmus	2	GNAS CL E G H	2778	4392	ORPHA:79443	Pseudohypoparathyroidism type 1A	HP:0040282 - Frequent		101
HP:0000496	HP:0000639	Nystagmus	2	GNAS CL E G H	2778	4392	ORPHA:94089	Pseudohypoparathyroidism type 1B	HP:0040282 - Frequent		101
HP:0000496	HP:0000639	Nystagmus	2	GNAS CL E G H	2778	4392	ORPHA:79444	Pseudohypoparathyroidism type 1C	HP:0040282 - Frequent		101
HP:0000496	HP:0000639	Nystagmus	2	GNAS CL E G H	2778	4392	OMIM:103580	Pseudohypoparathyroidism, type IA	.		101
HP:0000496	HP:0000639	Nystagmus	2	GNAS CL E G H	2778	4392	OMIM:612462	Pseudohypoparathyroidism, type IC	.		101
HP:0000496	HP:0000639	Nystagmus	2	GNAS CL E G H	2778	4392	OMIM:612463	PSEUDOPSEUDOHYPOPARATHYROIDISM	.		101
HP:0000496	HP:0000486	Strabismus	2	GNAT1 CL E G H	2779	4393	ORPHA:215	Congenital stationary night blindness	HP:0040282 - Frequent		39
HP:0000496	HP:0000639	Nystagmus	2	GNAT1 CL E G H	2779	4393	ORPHA:215	Congenital stationary night blindness	HP:0040282 - Frequent		39
HP:0000496	HP:0000639	Nystagmus	2	GNAT2 CL E G H	2780	4394	ORPHA:49382	Achromatopsia			19
HP:0000496	HP:0025549	Eccentric visual fixation	2	GNAT2 CL E G H	2780	4394	ORPHA:49382	Achromatopsia	HP:0040283 - Occasional		19
HP:0000496	HP:0000639	Nystagmus	2	GNAT2 CL E G H	2780	4394	OMIM:613856	ACHROMATOPSIA 4; ACHM4			19
HP:0000496	HP:0000486	Strabismus	2	GNB1 CL E G H	2782	4396	ORPHA:488613	Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome	HP:0040283 - Occasional		12
HP:0000496	HP:0000639	Nystagmus	2	GNB1 CL E G H	2782	4396	ORPHA:488613	Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome	HP:0040283 - Occasional		12
HP:0000496	HP:0007772	Impaired smooth pursuit	2	GNB1 CL E G H	2782	4396	ORPHA:488613	Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome	HP:0040283 - Occasional		12
HP:0000496	HP:0000486	Strabismus	2	GNB1 CL E G H	2782	4396	OMIM:616973	Mental retardation, autosomal dominant 42	.		12
HP:0000496	HP:0000639	Nystagmus	2	GNB1 CL E G H	2782	4396	OMIM:616973	Mental retardation, autosomal dominant 42	.		12
HP:0000496	HP:0007772	Impaired smooth pursuit	2	GNB1 CL E G H	2782	4396	OMIM:616973	Mental retardation, autosomal dominant 42	.		12
HP:0000496	HP:0000486	Strabismus	2	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0000496	HP:0000486	Strabismus	2	GNB3 CL E G H	2784	4400	ORPHA:215	Congenital stationary night blindness	HP:0040282 - Frequent		5
HP:0000496	HP:0000639	Nystagmus	2	GNB3 CL E G H	2784	4400	ORPHA:215	Congenital stationary night blindness	HP:0040282 - Frequent		5
HP:0000496	HP:0000639	Nystagmus	2	GNB5 CL E G H	10681	4401	ORPHA:542306	GNB5-related intellectual disability-cardiac arrhythmia syndrome	HP:0040282 - Frequent		7
HP:0000496	HP:0000639	Nystagmus	2	GNB5 CL E G H	10681	4401	OMIM:617173	Intellectual developmental disorder with cardiac arrhythmia	.		7
HP:0000496	HP:0000639	Nystagmus	2	GNB5 CL E G H	10681	4401	OMIM:617182	Language delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmia			7
HP:0000496	HP:0000486	Strabismus	2	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional		8
HP:0000496	HP:0000639	Nystagmus	2	GPAA1 CL E G H	8733	4446	OMIM:617810	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15; GPIBD15
HP:0000496	HP:0000639	Nystagmus	2	GPAA1 CL E G H	8733	4446	ORPHA:529665	Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome	HP:0040282 - Frequent
HP:0000496	HP:0000639	Nystagmus	2	GPR143 CL E G H	4935	20145	OMIM:300500	Albinism, ocular, type I	.		64
HP:0000496	HP:0000639	Nystagmus	2	GPR143 CL E G H	4935	20145	OMIM:300814	Nystagmus 6, congenital, X-linked			64
HP:0000496	HP:0000486	Strabismus	2	GPR143 CL E G H	4935	20145	ORPHA:54	X-linked recessive ocular albinism	HP:0040282 - Frequent		64
HP:0000496	HP:0000639	Nystagmus	2	GPR143 CL E G H	4935	20145	ORPHA:54	X-linked recessive ocular albinism	HP:0040281 - Very frequent		64
HP:0000496	HP:0000486	Strabismus	2	GPR179 CL E G H	440435	31371	ORPHA:215	Congenital stationary night blindness	HP:0040282 - Frequent		124
HP:0000496	HP:0000639	Nystagmus	2	GPR179 CL E G H	440435	31371	ORPHA:215	Congenital stationary night blindness	HP:0040282 - Frequent		124
HP:0000496	HP:0000486	Strabismus	2	GPR179 CL E G H	440435	31371	OMIM:614565	Night blindness, congenital stationary, type 1E	HP:0040283 - Occasional		124
HP:0000496	HP:0000639	Nystagmus	2	GPR179 CL E G H	440435	31371	OMIM:614565	Night blindness, congenital stationary, type 1E	.		124
HP:0000496	HP:0000486	Strabismus	2	GRHL2 CL E G H	79977	2799	ORPHA:98973	Posterior polymorphous corneal dystrophy			33
HP:0000496	HP:0000486	Strabismus	2	GRIA1 CL E G H	2890	4571	OMIM:619931				3
HP:0000496	HP:0000486	Strabismus	2	GRIA4 CL E G H	2893	4574	OMIM:617864	Neurodevelopmental disorder with or without seizures and gait abnormalities	.
HP:0000496	HP:0000639	Nystagmus	2	GRIA4 CL E G H	2893	4574	OMIM:617864	Neurodevelopmental disorder with or without seizures and gait abnormalities	.
HP:0000496	HP:0000639	Nystagmus	2	GRID2 CL E G H	2895	4576	ORPHA:363432	Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency			18
HP:0000496	HP:0000486	Strabismus	2	GRID2 CL E G H	2895	4576	OMIM:616204	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18; SCAR18			18
HP:0000496	HP:0000639	Nystagmus	2	GRID2 CL E G H	2895	4576	OMIM:616204	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18; SCAR18			18
HP:0000496	HP:0000486	Strabismus	2	GRIK2 CL E G H	2898	4580	OMIM:619580	NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND ATAXIA AND WITH OR WITHOUT SEIZURES; NEDLAS			32
HP:0000496	HP:0000639	Nystagmus	2	GRIK2 CL E G H	2898	4580	OMIM:619580	NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND ATAXIA AND WITH OR WITHOUT SEIZURES; NEDLAS			32
HP:0000496	HP:0000602	Ophthalmoplegia	2	GRIN1 CL E G H	2902	4584	ORPHA:208447	Bilateral generalized polymicrogyria			108
HP:0000496	HP:0000486	Strabismus	2	GRIN1 CL E G H	2902	4584	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare		108
HP:0000496	HP:0000486	Strabismus	2	GRIN1 CL E G H	2902	4584	OMIM:617820	Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive	.		108
HP:0000496	HP:0000639	Nystagmus	2	GRIN2D CL E G H	2906	4588	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		2
HP:0000496	HP:0000486	Strabismus	2	GRK1 CL E G H	6011	10013	ORPHA:215	Congenital stationary night blindness	HP:0040282 - Frequent		4
HP:0000496	HP:0000639	Nystagmus	2	GRK1 CL E G H	6011	10013	ORPHA:215	Congenital stationary night blindness	HP:0040282 - Frequent		4
HP:0000496	HP:0000486	Strabismus	2	GRK1 CL E G H	6011	10013	ORPHA:75382	Oguchi disease	HP:0040284 - Very rare		4
HP:0000496	HP:0000639	Nystagmus	2	GRK1 CL E G H	6011	10013	ORPHA:75382	Oguchi disease	HP:0040284 - Very rare		4
HP:0000496	HP:0000486	Strabismus	2	GRM1 CL E G H	2911	4593	ORPHA:324262	Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency			8
HP:0000496	HP:0000571	Hypometric saccades	2	GRM1 CL E G H	2911	4593	ORPHA:324262	Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency	HP:0040282 - Frequent		8
HP:0000496	HP:0000639	Nystagmus	2	GRM1 CL E G H	2911	4593	ORPHA:324262	Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency			8
HP:0000496	HP:0007338	Hypermetric saccades	2	GRM1 CL E G H	2911	4593	OMIM:617691	SPINOCEREBELLAR ATAXIA 44; SCA44			8
HP:0000496	HP:0000486	Strabismus	2	GRM1 CL E G H	2911	4593	OMIM:614831	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13; SCAR13			8
HP:0000496	HP:0000571	Hypometric saccades	2	GRM1 CL E G H	2911	4593	OMIM:614831	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13; SCAR13			8
HP:0000496	HP:0000639	Nystagmus	2	GRM1 CL E G H	2911	4593	OMIM:614831	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13; SCAR13			8
HP:0000496	HP:0000486	Strabismus	2	GRM6 CL E G H	2916	4598	ORPHA:215	Congenital stationary night blindness	HP:0040282 - Frequent		63
HP:0000496	HP:0000639	Nystagmus	2	GRM6 CL E G H	2916	4598	ORPHA:215	Congenital stationary night blindness	HP:0040282 - Frequent		63
HP:0000496	HP:0000486	Strabismus	2	GRM7 CL E G H	2917	4599	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare		5
HP:0000496	HP:0000486	Strabismus	2	GTF2E2 CL E G H	2961	4651	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		2
HP:0000496	HP:0000639	Nystagmus	2	GTF2E2 CL E G H	2961	4651	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		2
HP:0000496	HP:0000486	Strabismus	2	GTF2E2 CL E G H	2961	4651	OMIM:616943	Trichothiodystrophy 6, nonphotosensitive			2
HP:0000496	HP:0000639	Nystagmus	2	GTF2E2 CL E G H	2961	4651	OMIM:616943	Trichothiodystrophy 6, nonphotosensitive	HP:0040283 - Occasional		2
HP:0000496	HP:0000486	Strabismus	2	GTF2H5 CL E G H	404672	21157	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		3
HP:0000496	HP:0000639	Nystagmus	2	GTF2H5 CL E G H	404672	21157	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		3
HP:0000496	HP:0000486	Strabismus	2	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome	HP:0040282 - Frequent		1
HP:0000496	HP:0000639	Nystagmus	2	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome			1
HP:0000496	HP:0000486	Strabismus	2	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome	HP:0040282 - Frequent		1
HP:0000496	HP:0000639	Nystagmus	2	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome			1
HP:0000496	HP:0000486	Strabismus	2	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome	HP:0040282 - Frequent		1
HP:0000496	HP:0000639	Nystagmus	2	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome			1
HP:0000496	HP:0000602	Ophthalmoplegia	2	GUCA1B CL E G H	2979	4679	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		36
HP:0000496	HP:0000639	Nystagmus	2	GUCA1B CL E G H	2979	4679	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		36
HP:0000496	HP:0000639	Nystagmus	2	GUCY2D CL E G H	3000	4689	OMIM:601777	Cone-Rod dystrophy 6	.		124
HP:0000496	HP:0000639	Nystagmus	2	GUCY2D CL E G H	3000	4689	ORPHA:65	Leber congenital amaurosis	HP:0040282 - Frequent		124
HP:0000496	HP:0000639	Nystagmus	2	GUCY2D CL E G H	3000	4689	OMIM:204000	Leber congenital amaurosis, type I	.		124
HP:0000496	HP:0000486	Strabismus	2	H1-4 CL E G H	3008	4718	OMIM:617537	Rahman syndrome	.
HP:0000496	HP:0000486	Strabismus	2	H3-3A CL E G H	3020	4764	OMIM:619720	BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1; BRYLIB1
HP:0000496	HP:0000639	Nystagmus	2	H3-3A CL E G H	3020	4764	OMIM:619720	BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1; BRYLIB1
HP:0000496	HP:0000486	Strabismus	2	H4C11 CL E G H	8363	4785	OMIM:619759	TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 2; TEVANED2
HP:0000496	HP:0000486	Strabismus	2	H4C3 CL E G H	8364	4787	OMIM:619758	TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 1; TEVANED1
HP:0000496	HP:0000486	Strabismus	2	H4C5 CL E G H	8367	4790	OMIM:619950
HP:0000496	HP:0000486	Strabismus	2	H4C9 CL E G H	8294	4793	OMIM:619951
HP:0000496	HP:0000602	Ophthalmoplegia	2	HACD1 CL E G H	9200	9639	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		2
HP:0000496	HP:0000486	Strabismus	2	HACE1 CL E G H	57531	21033	OMIM:616756	Spastic paraplegia and psychomotor retardation with or without seizures			10
HP:0000496	HP:0000486	Strabismus	2	HACE1 CL E G H	57531	21033	ORPHA:464282	Spastic paraplegia-severe developmental delay-epilepsy syndrome			10
HP:0000496	HP:0000486	Strabismus	2	HADHA CL E G H	3030	4801	ORPHA:5	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency			99
HP:0000496	HP:0000639	Nystagmus	2	HARS1 CL E G H	3035	4816	OMIM:614504	Usher syndrome, type IIIB
HP:0000496	HP:0000639	Nystagmus	2	HCN1 CL E G H	348980	4845	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		54
HP:0000496	HP:0000486	Strabismus	2	HDAC8 CL E G H	55869	13315	ORPHA:199	Cornelia de Lange syndrome	HP:0040283 - Occasional		37
HP:0000496	HP:0000639	Nystagmus	2	HDAC8 CL E G H	55869	13315	ORPHA:199	Cornelia de Lange syndrome	HP:0040283 - Occasional		37
HP:0000496	HP:0000486	Strabismus	2	HECW2 CL E G H	57520	29853	OMIM:617268	Neurodevelopmental disorder with hypotonia, seizures, and absent language			11
HP:0000496	HP:0000639	Nystagmus	2	HECW2 CL E G H	57520	29853	OMIM:617268	Neurodevelopmental disorder with hypotonia, seizures, and absent language	.		11
HP:0000496	HP:0000486	Strabismus	2	HERC2 CL E G H	8924	4868	OMIM:615516	Mental retardation, autosomal recessive 38	.		38
HP:0000496	HP:0000486	Strabismus	2	HERC2 CL E G H	8924	4868	OMIM:176270	Prader-Willi syndrome			38
HP:0000496	HP:0000639	Nystagmus	2	HESX1 CL E G H	8820	4877	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional		21
HP:0000496	HP:0000486	Strabismus	2	HESX1 CL E G H	8820	4877	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040282 - Frequent		21
HP:0000496	HP:0000639	Nystagmus	2	HESX1 CL E G H	8820	4877	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040282 - Frequent		21
HP:0000496	HP:0000602	Ophthalmoplegia	2	HGSNAT CL E G H	138050	26527	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		86
HP:0000496	HP:0000639	Nystagmus	2	HGSNAT CL E G H	138050	26527	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		86
HP:0000496	HP:0000486	Strabismus	2	HHAT CL E G H	55733	18270	ORPHA:1422	Chondrodysplasia-disorder of sex development syndrome	HP:0040282 - Frequent
HP:0000496	HP:0000486	Strabismus	2	HIBCH CL E G H	26275	4908	OMIM:250620	3-Hydroxyisobutyryl-Coa hydrolase deficiency	.		32
HP:0000496	HP:0000639	Nystagmus	2	HIBCH CL E G H	26275	4908	OMIM:250620	3-Hydroxyisobutyryl-Coa hydrolase deficiency	.		32
HP:0000496	HP:0000486	Strabismus	2	HIBCH CL E G H	26275	4908	ORPHA:88639	Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency	HP:0040282 - Frequent		32
HP:0000496	HP:0000639	Nystagmus	2	HIBCH CL E G H	26275	4908	ORPHA:88639	Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency	HP:0040282 - Frequent		32
HP:0000496	HP:0000486	Strabismus	2	HID1 CL E G H	283987	15736	OMIM:619983
HP:0000496	HP:0000639	Nystagmus	2	HID1 CL E G H	283987	15736	OMIM:619983
HP:0000496	HP:0000639	Nystagmus	2	HIKESHI CL E G H	51501	26938	OMIM:616881	Leukodystrophy, hypomyelinating, 13	.		3
HP:0000496	HP:0000486	Strabismus	2	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional		3
HP:0000496	HP:0000486	Strabismus	2	HK1 CL E G H	3098	4922	OMIM:618547	NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES; NEDVIBA			11
HP:0000496	HP:0000639	Nystagmus	2	HK1 CL E G H	3098	4922	OMIM:618547	NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES; NEDVIBA			11
HP:0000496	HP:0000639	Nystagmus	2	HLA-B CL E G H	3106	4932	ORPHA:397	Giant cell arteritis	HP:0040283 - Occasional		4
HP:0000496	HP:0000605	Supranuclear gaze palsy	2	HLA-DQB1 CL E G H	3119	4944	OMIM:123400	Creutzfeldt-Jakob disease	.
HP:0000496	HP:0000639	Nystagmus	2	HLA-DRB1 CL E G H	3123	4948	ORPHA:397	Giant cell arteritis	HP:0040283 - Occasional		2
HP:0000496	HP:0000486	Strabismus	2	HMGB3 CL E G H	3149	5004	OMIM:300915	Microphthalmia, syndromic 13			2
HP:0000496	HP:0000639	Nystagmus	2	HMGB3 CL E G H	3149	5004	OMIM:300915	Microphthalmia, syndromic 13			2
HP:0000496	HP:0000486	Strabismus	2	HMX1 CL E G H	3166	5017	OMIM:612109	Oculoauricular syndrome			2
HP:0000496	HP:0000639	Nystagmus	2	HMX1 CL E G H	3166	5017	OMIM:612109	Oculoauricular syndrome	.		2
HP:0000496	HP:0000486	Strabismus	2	HNRNPH1 CL E G H	3187	5041	OMIM:620083
HP:0000496	HP:0000639	Nystagmus	2	HNRNPH1 CL E G H	3187	5041	OMIM:620083
HP:0000496	HP:0000486	Strabismus	2	HNRNPH2 CL E G H	3188	5042	OMIM:300986	MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE; MRXSB			3
HP:0000496	HP:0000486	Strabismus	2	HNRNPR CL E G H	10236	5047	OMIM:620073
HP:0000496	HP:0000639	Nystagmus	2	HNRNPR CL E G H	10236	5047	OMIM:620073
HP:0000496	HP:0000486	Strabismus	2	HNRNPU CL E G H	3192	5048	ORPHA:238769	1q44 microdeletion syndrome	HP:0040282 - Frequent		39
HP:0000496	HP:0000486	Strabismus	2	HOXA1 CL E G H	3198	5099	OMIM:601536	ATHABASKAN BRAINSTEM DYSGENESIS SYNDROME; ABDS			34
HP:0000496	HP:0000605	Supranuclear gaze palsy	2	HOXA1 CL E G H	3198	5099	OMIM:601536	ATHABASKAN BRAINSTEM DYSGENESIS SYNDROME; ABDS			34
HP:0000496	HP:0000486	Strabismus	2	HOXA13 CL E G H	3209	5102	ORPHA:2438	Hand-foot-genital syndrome	HP:0040283 - Occasional		11
HP:0000496	HP:0000486	Strabismus	2	HOXB1 CL E G H	3211	5111	OMIM:614744	Facial paresis, hereditary congenital, 3			2
HP:0000496	HP:0000486	Strabismus	2	HPDL CL E G H	84842	28242	OMIM:619026	NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE SPASTICITY AND BRAIN WHITE MATTER ABNORMALITIES; NEDSWMA
HP:0000496	HP:0000602	Ophthalmoplegia	2	HPDL CL E G H	84842	28242	OMIM:619026	NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE SPASTICITY AND BRAIN WHITE MATTER ABNORMALITIES; NEDSWMA
HP:0000496	HP:0000639	Nystagmus	2	HPDL CL E G H	84842	28242	OMIM:619026	NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE SPASTICITY AND BRAIN WHITE MATTER ABNORMALITIES; NEDSWMA
HP:0000496	HP:0000639	Nystagmus	2	HPS1 CL E G H	3257	5163	OMIM:203300	Hermansky-Pudlak syndrome 1	.		121
HP:0000496	HP:0000486	Strabismus	2	HPS3 CL E G H	84343	15597	OMIM:614072	Hermansky-Pudlak syndrome 3			67
HP:0000496	HP:0000639	Nystagmus	2	HPS3 CL E G H	84343	15597	OMIM:614072	Hermansky-Pudlak syndrome 3			67
HP:0000496	HP:0000639	Nystagmus	2	HPS4 CL E G H	89781	15844	OMIM:614073	Hermansky-Pudlak syndrome 4			123
HP:0000496	HP:0000486	Strabismus	2	HPS5 CL E G H	11234	17022	OMIM:614074	Hermansky-Pudlak syndrome 5	.		105
HP:0000496	HP:0000639	Nystagmus	2	HPS5 CL E G H	11234	17022	OMIM:614074	Hermansky-Pudlak syndrome 5			105
HP:0000496	HP:0000486	Strabismus	2	HPS6 CL E G H	79803	18817	OMIM:614075	Hermansky-Pudlak syndrome 6	.		45
HP:0000496	HP:0000639	Nystagmus	2	HPS6 CL E G H	79803	18817	OMIM:614075	Hermansky-Pudlak syndrome 6	.		45
HP:0000496	HP:0000486	Strabismus	2	HRAS CL E G H	3265	5173	OMIM:218040	Costello syndrome	.		113
HP:0000496	HP:0000486	Strabismus	2	HRAS CL E G H	3265	5173	ORPHA:3071	Costello syndrome	HP:0040282 - Frequent		113
HP:0000496	HP:0000602	Ophthalmoplegia	2	HRAS CL E G H	3265	5173	OMIM:163200	Schimmelpenning-Feuerstein-Mims syndrome	HP:0040283 - Occasional		113
HP:0000496	HP:0000639	Nystagmus	2	HS6ST1 CL E G H	9394	5201	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional		8
HP:0000496	HP:0000639	Nystagmus	2	HSD17B10 CL E G H	3028	4800	ORPHA:391428	HSD10 disease, infantile type	HP:0040283 - Occasional		19
HP:0000496	HP:0000639	Nystagmus	2	HSD17B10 CL E G H	3028	4800	OMIM:300438	HSD10 mitochondrial disease	.		19
HP:0000496	HP:0000486	Strabismus	2	HSD17B4 CL E G H	3295	5213	OMIM:261515	D-bifunctional protein deficiency			98
HP:0000496	HP:0000639	Nystagmus	2	HSD17B4 CL E G H	3295	5213	OMIM:261515	D-bifunctional protein deficiency			98
HP:0000496	HP:0000639	Nystagmus	2	HSD17B4 CL E G H	3295	5213	OMIM:233400	Perrault syndrome 1	.		98
HP:0000496	HP:0000486	Strabismus	2	HSPD1 CL E G H	3329	5261	OMIM:612233	Leukodystrophy, hypomyelinating, 4	.		46
HP:0000496	HP:0000639	Nystagmus	2	HSPD1 CL E G H	3329	5261	OMIM:612233	Leukodystrophy, hypomyelinating, 4	.		46
HP:0000496	HP:0000486	Strabismus	2	HSPG2 CL E G H	3339	5273	ORPHA:1606	1p36 deletion syndrome	HP:0040282 - Frequent		345
HP:0000496	HP:0000639	Nystagmus	2	HSPG2 CL E G H	3339	5273	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		345
HP:0000496	HP:0000486	Strabismus	2	HSPG2 CL E G H	3339	5273	ORPHA:800	Schwartz-Jampel syndrome	HP:0040282 - Frequent		345
HP:0000496	HP:0000639	Nystagmus	2	HTRA1 CL E G H	5654	9476	OMIM:600142	Autosomal recessive cerebral arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL)	HP:0040283 - Occasional		34
HP:0000496	HP:0000486	Strabismus	2	HUWE1 CL E G H	10075	30892	OMIM:309590	Mental retardation, x-linked syndromic, Turner type			98
HP:0000496	HP:0000639	Nystagmus	2	HUWE1 CL E G H	10075	30892	OMIM:309590	Mental retardation, x-linked syndromic, Turner type	.		98
HP:0000496	HP:0000486	Strabismus	2	HYLS1 CL E G H	219844	26558	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional		31
HP:0000496	HP:0000639	Nystagmus	2	HYLS1 CL E G H	219844	26558	ORPHA:475	Joubert syndrome	HP:0040282 - Frequent		31
HP:0000496	HP:0000486	Strabismus	2	IARS2 CL E G H	55699	29685	OMIM:616007	Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia	.		25
HP:0000496	HP:0000639	Nystagmus	2	IARS2 CL E G H	55699	29685	OMIM:616007	Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia	.		25
HP:0000496	HP:0000639	Nystagmus	2	IBA57 CL E G H	200205	27302	OMIM:615330	Multiple mitochondrial dysfunctions syndrome 3	.		16
HP:0000496	HP:0000639	Nystagmus	2	IDH1 CL E G H	3417	5382	ORPHA:99646	Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria			15
HP:0000496	HP:0000602	Ophthalmoplegia	2	IDH3A CL E G H	3419	5384	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent
HP:0000496	HP:0000639	Nystagmus	2	IDH3A CL E G H	3419	5384	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent
HP:0000496	HP:0000486	Strabismus	2	IDH3A CL E G H	3419	5384	OMIM:619007	RETINITIS PIGMENTOSA 90; RP90
HP:0000496	HP:0000602	Ophthalmoplegia	2	IDH3B CL E G H	3420	5385	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		30
HP:0000496	HP:0000639	Nystagmus	2	IDH3B CL E G H	3420	5385	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		30
HP:0000496	HP:0000639	Nystagmus	2	IFIH1 CL E G H	64135	18873	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional		28
HP:0000496	HP:0000639	Nystagmus	2	IFIH1 CL E G H	64135	18873	OMIM:615846	Aicardi-Goutieres syndrome 7			28
HP:0000496	HP:0000639	Nystagmus	2	IFRD1 CL E G H	3475	5456	ORPHA:98771	Spinocerebellar ataxia type 18	HP:0040283 - Occasional		1
HP:0000496	HP:0000639	Nystagmus	2	IFT122 CL E G H	55764	13556	ORPHA:1515	Cranioectodermal dysplasia	HP:0040283 - Occasional		93
HP:0000496	HP:0000639	Nystagmus	2	IFT122 CL E G H	55764	13556	OMIM:218330	Cranioectodermal dysplasia	.		93
HP:0000496	HP:0000639	Nystagmus	2	IFT140 CL E G H	9742	29077	ORPHA:65	Leber congenital amaurosis	HP:0040282 - Frequent		148
HP:0000496	HP:0000602	Ophthalmoplegia	2	IFT140 CL E G H	9742	29077	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		148
HP:0000496	HP:0000639	Nystagmus	2	IFT140 CL E G H	9742	29077	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		148
HP:0000496	HP:0000639	Nystagmus	2	IFT140 CL E G H	9742	29077	OMIM:266920	Short-rib thoracic dysplasia 9 with or without polydactyly	.		148
HP:0000496	HP:0000639	Nystagmus	2	IFT172 CL E G H	26160	30391	ORPHA:110	Bardet-Biedl syndrome	HP:0040282 - Frequent		48
HP:0000496	HP:0000602	Ophthalmoplegia	2	IFT172 CL E G H	26160	30391	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		48
HP:0000496	HP:0000639	Nystagmus	2	IFT172 CL E G H	26160	30391	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		48
HP:0000496	HP:0000639	Nystagmus	2	IFT27 CL E G H	11020	18626	ORPHA:110	Bardet-Biedl syndrome	HP:0040282 - Frequent		1
HP:0000496	HP:0000639	Nystagmus	2	IFT43 CL E G H	112752	29669	ORPHA:1515	Cranioectodermal dysplasia	HP:0040283 - Occasional		11
HP:0000496	HP:0000639	Nystagmus	2	IFT52 CL E G H	51098	15901	ORPHA:1515	Cranioectodermal dysplasia	HP:0040283 - Occasional		4
HP:0000496	HP:0000639	Nystagmus	2	IFT52 CL E G H	51098	15901	OMIM:617102	Short-Rib thoracic dysplasia 16 with or without polydactyly			4
HP:0000496	HP:0000639	Nystagmus	2	IFT74 CL E G H	80173	21424	ORPHA:110	Bardet-Biedl syndrome	HP:0040282 - Frequent		3
HP:0000496	HP:0000602	Ophthalmoplegia	2	IFT88 CL E G H	8100	20606	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		3
HP:0000496	HP:0000639	Nystagmus	2	IFT88 CL E G H	8100	20606	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		3
HP:0000496	HP:0000639	Nystagmus	2	IGBP1 CL E G H	3476	5461	ORPHA:52055	Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome	HP:0040281 - Very frequent		5
HP:0000496	HP:0000639	Nystagmus	2	IGBP1 CL E G H	3476	5461	OMIM:300472	CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA, AND MICROGNATHIA			5
HP:0000496	HP:0000486	Strabismus	2	IGF1R CL E G H	3480	5465	OMIM:270450	Insulin-Like growth factor I, resistance to	.		268
HP:0000496	HP:0000486	Strabismus	2	IKBKG CL E G H	8517	5961	ORPHA:464	Incontinentia pigmenti	HP:0040282 - Frequent		52
HP:0000496	HP:0000486	Strabismus	2	IKBKG CL E G H	8517	5961	OMIM:308300	Incontinentia pigmenti	.		52
HP:0000496	HP:0000639	Nystagmus	2	IL17RD CL E G H	54756	17616	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional		9
HP:0000496	HP:0000486	Strabismus	2	IL1RAPL1 CL E G H	11141	5996	OMIM:300143	Mental retardation, X-linked 21			42
HP:0000496	HP:0000639	Nystagmus	2	IMPDH1 CL E G H	3614	6052	ORPHA:65	Leber congenital amaurosis	HP:0040282 - Frequent		52
HP:0000496	HP:0000639	Nystagmus	2	IMPDH1 CL E G H	3614	6052	OMIM:613837	Leber congenital amaurosis 11			52
HP:0000496	HP:0000602	Ophthalmoplegia	2	IMPDH1 CL E G H	3614	6052	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		52
HP:0000496	HP:0000639	Nystagmus	2	IMPDH1 CL E G H	3614	6052	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		52
HP:0000496	HP:0000639	Nystagmus	2	IMPDH2 CL E G H	3615	6053	ORPHA:98808	Autosomal dominant dopa-responsive dystonia			1
HP:0000496	HP:0000602	Ophthalmoplegia	2	IMPG1 CL E G H	3617	6055	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		4
HP:0000496	HP:0000639	Nystagmus	2	IMPG1 CL E G H	3617	6055	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		4
HP:0000496	HP:0000602	Ophthalmoplegia	2	IMPG2 CL E G H	50939	18362	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		120
HP:0000496	HP:0000639	Nystagmus	2	IMPG2 CL E G H	50939	18362	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		120
HP:0000496	HP:0000486	Strabismus	2	INPP5E CL E G H	56623	21474	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional		111
HP:0000496	HP:0000639	Nystagmus	2	INPP5E CL E G H	56623	21474	ORPHA:475	Joubert syndrome	HP:0040282 - Frequent		111
HP:0000496	HP:0000486	Strabismus	2	INPP5E CL E G H	56623	21474	OMIM:213300	Joubert syndrome 1			111
HP:0000496	HP:0007772	Impaired smooth pursuit	2	INPP5E CL E G H	56623	21474	OMIM:213300	Joubert syndrome 1	.		111
HP:0000496	HP:0000486	Strabismus	2	INPP5E CL E G H	56623	21474	ORPHA:1454	Joubert syndrome with hepatic defect	HP:0040283 - Occasional		111
HP:0000496	HP:0000639	Nystagmus	2	INPP5E CL E G H	56623	21474	ORPHA:1454	Joubert syndrome with hepatic defect	HP:0040282 - Frequent		111
HP:0000496	HP:0000486	Strabismus	2	INPP5E CL E G H	56623	21474	ORPHA:220493	Joubert syndrome with ocular defect	HP:0040283 - Occasional		111
HP:0000496	HP:0000639	Nystagmus	2	INPP5E CL E G H	56623	21474	ORPHA:220493	Joubert syndrome with ocular defect	HP:0040282 - Frequent		111
HP:0000496	HP:0000486	Strabismus	2	INPP5K CL E G H	51763	33882	ORPHA:559	Marinesco-Sjögren syndrome	HP:0040281 - Very frequent		7
HP:0000496	HP:0000639	Nystagmus	2	INPP5K CL E G H	51763	33882	ORPHA:559	Marinesco-Sjögren syndrome	HP:0040282 - Frequent		7
HP:0000496	HP:0000486	Strabismus	2	INPP5K CL E G H	51763	33882	OMIM:617404	Muscular dystrophy, congenital, with cataracts and intellectual disability	.		7
HP:0000496	HP:0000486	Strabismus	2	INTS1 CL E G H	26173	24555	OMIM:618571	NEURODEVELOPMENTAL DISORDER WITH CATARACTS, POOR GROWTH, AND DYSMORPHIC FACIES; NDCAGF
HP:0000496	HP:0000639	Nystagmus	2	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0000496	HP:0000486	Strabismus	2	IPW CL E G H	3653	6109	OMIM:176270	Prader-Willi syndrome
HP:0000496	HP:0000639	Nystagmus	2	IQCB1 CL E G H	9657	28949	ORPHA:65	Leber congenital amaurosis	HP:0040282 - Frequent		61
HP:0000496	HP:0000486	Strabismus	2	IQSEC2 CL E G H	23096	29059	OMIM:309530	Mental retardation, X-linked 1	.		119
HP:0000496	HP:0000486	Strabismus	2	IQSEC2 CL E G H	23096	29059	ORPHA:397933	Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome	HP:0040283 - Occasional		119
HP:0000496	HP:0000639	Nystagmus	2	IQSEC2 CL E G H	23096	29059	ORPHA:397933	Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome			119
HP:0000496	HP:0000486	Strabismus	2	IQSEC2 CL E G H	23096	29059	ORPHA:819	Smith-Magenis syndrome	HP:0040282 - Frequent		119
HP:0000496	HP:0000486	Strabismus	2	IRF2BPL CL E G H	64207	14282	OMIM:618088	Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures
HP:0000496	HP:0000639	Nystagmus	2	IRF2BPL CL E G H	64207	14282	OMIM:618088	Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures	.
HP:0000496	HP:0000639	Nystagmus	2	ISCA2 CL E G H	122961	19857	OMIM:616370	Multiple mitochondrial dysfunctions syndrome 4	.		7
HP:0000496	HP:0000602	Ophthalmoplegia	2	ITGA7 CL E G H	3679	6143	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		127
HP:0000496	HP:0000639	Nystagmus	2	ITPR1 CL E G H	3708	6180	OMIM:206700	Gillespie syndrome	.		177
HP:0000496	HP:0000639	Nystagmus	2	ITPR1 CL E G H	3708	6180	OMIM:606658	Spinocerebellar ataxia 15			177
HP:0000496	HP:0000641	Dysmetric saccades	2	ITPR1 CL E G H	3708	6180	OMIM:606658	Spinocerebellar ataxia 15	.		177
HP:0000496	HP:0007772	Impaired smooth pursuit	2	ITPR1 CL E G H	3708	6180	OMIM:606658	Spinocerebellar ataxia 15	.		177
HP:0000496	HP:0000639	Nystagmus	2	ITPR1 CL E G H	3708	6180	OMIM:117360	Spinocerebellar ataxia 29	.		177
HP:0000496	HP:0000639	Nystagmus	2	ITPR1 CL E G H	3708	6180	ORPHA:208513	Spinocerebellar ataxia type 29	HP:0040282 - Frequent		177
HP:0000496	HP:0025405	Visual fixation instability	2	ITPR1 CL E G H	3708	6180	ORPHA:208513	Spinocerebellar ataxia type 29	HP:0040283 - Occasional		177
HP:0000496	HP:0000486	Strabismus	2	JAG1 CL E G H	182	6188	OMIM:118450	Alagille syndrome 1	.		257
HP:0000496	HP:0000639	Nystagmus	2	JAM2 CL E G H	58494	14686	OMIM:618824	BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 8, AUTOSOMAL RECESSIVE; IBGC8
HP:0000496	HP:0000486	Strabismus	2	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional		2
HP:0000496	HP:0007738	Uncontrolled eye movements	2	JRK CL E G H	8629	6199	ORPHA:64280	Childhood absence epilepsy	HP:0040283 - Occasional
HP:0000496	HP:0000639	Nystagmus	2	KANK1 CL E G H	23189	19309	OMIM:612900	CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, 2; CPSQ2			26
HP:0000496	HP:0000486	Strabismus	2	KANSL1 CL E G H	284058	24565	ORPHA:363958	17q21.31 microdeletion syndrome	HP:0040282 - Frequent		283
HP:0000496	HP:0000486	Strabismus	2	KANSL1 CL E G H	284058	24565	OMIM:610443	Koolen-De Vries syndrome			283
HP:0000496	HP:0000486	Strabismus	2	KANSL1 CL E G H	284058	24565	ORPHA:363965	Koolen-De Vries syndrome due to a point mutation	HP:0040282 - Frequent		283
HP:0000496	HP:0000639	Nystagmus	2	KARS1 CL E G H	3735	6215	OMIM:619147	LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS; LEPID
HP:0000496	HP:0000486	Strabismus	2	KAT5 CL E G H	10524	5275	OMIM:619103	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES; NEDFASB			1
HP:0000496	HP:0000486	Strabismus	2	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome			34
HP:0000496	HP:0000486	Strabismus	2	KAT6A CL E G H	7994	13013	ORPHA:457193	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome	HP:0040282 - Frequent		34
HP:0000496	HP:0000486	Strabismus	2	KAT8 CL E G H	84148	17933	OMIM:618974	LI-GHORBANI-WEISZ-HUBSHMAN SYNDROME; LIGOWS
HP:0000496	HP:0000486	Strabismus	2	KATNIP CL E G H	23247	29068	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional
HP:0000496	HP:0000639	Nystagmus	2	KATNIP CL E G H	23247	29068	ORPHA:475	Joubert syndrome	HP:0040282 - Frequent
HP:0000496	HP:0000639	Nystagmus	2	KATNIP CL E G H	23247	29068	OMIM:616784	JOUBERT SYNDROME 26; JBTS26
HP:0000496	HP:0000486	Strabismus	2	KCNA1 CL E G H	3736	6218	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare		145
HP:0000496	HP:0000639	Nystagmus	2	KCNA2 CL E G H	3737	6220	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		13
HP:0000496	HP:0000486	Strabismus	2	KCNAB2 CL E G H	8514	6229	ORPHA:1606	1p36 deletion syndrome	HP:0040282 - Frequent		1
HP:0000496	HP:0000639	Nystagmus	2	KCNAB2 CL E G H	8514	6229	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		1
HP:0000496	HP:0000639	Nystagmus	2	KCNB1 CL E G H	3745	6231	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		65
HP:0000496	HP:0008003	Jerky ocular pursuit movements	2	KCNC3 CL E G H	3748	6235	OMIM:605259	Spinocerebellar ataxia 13	.		17
HP:0000496	HP:0000605	Supranuclear gaze palsy	2	KCNC3 CL E G H	3748	6235	ORPHA:98768	Spinocerebellar ataxia type 13			17
HP:0000496	HP:0000639	Nystagmus	2	KCNC3 CL E G H	3748	6235	ORPHA:98768	Spinocerebellar ataxia type 13	HP:0040282 - Frequent		17
HP:0000496	HP:0008003	Jerky ocular pursuit movements	2	KCNC3 CL E G H	3748	6235	ORPHA:98768	Spinocerebellar ataxia type 13	HP:0040283 - Occasional		17
HP:0000496	HP:0000639	Nystagmus	2	KCND3 CL E G H	3752	6239	OMIM:607346	Spinocerebellar ataxia 19			35
HP:0000496	HP:0001152	Saccadic smooth pursuit	2	KCND3 CL E G H	3752	6239	OMIM:607346	Spinocerebellar ataxia 19			35
HP:0000496	HP:0000602	Ophthalmoplegia	2	KCND3 CL E G H	3752	6239	ORPHA:98772	Spinocerebellar ataxia type 19/22	HP:0040283 - Occasional		35
HP:0000496	HP:0000639	Nystagmus	2	KCND3 CL E G H	3752	6239	ORPHA:98772	Spinocerebellar ataxia type 19/22	HP:0040283 - Occasional		35
HP:0000496	HP:0007772	Impaired smooth pursuit	2	KCND3 CL E G H	3752	6239	ORPHA:98772	Spinocerebellar ataxia type 19/22	HP:0040283 - Occasional		35
HP:0000496	HP:0000486	Strabismus	2	KCNE5 CL E G H	23630	6241	ORPHA:86818	Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome	HP:0040283 - Occasional		5
HP:0000496	HP:0000639	Nystagmus	2	KCNH1 CL E G H	3756	6250	OMIM:135500	Zimmermann-Laband syndrome 1			13
HP:0000496	HP:0000639	Nystagmus	2	KCNJ13 CL E G H	3769	6259	ORPHA:65	Leber congenital amaurosis	HP:0040282 - Frequent		42
HP:0000496	HP:0000486	Strabismus	2	KCNJ13 CL E G H	3769	6259	OMIM:614186	Leber congenital amaurosis 16	HP:0040283 - Occasional		42
HP:0000496	HP:0000639	Nystagmus	2	KCNJ13 CL E G H	3769	6259	OMIM:614186	Leber congenital amaurosis 16	.		42
HP:0000496	HP:0000639	Nystagmus	2	KCNK4 CL E G H	50801	6279	OMIM:618381	Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome	.
HP:0000496	HP:0000486	Strabismus	2	KCNMA1 CL E G H	3778	6284	ORPHA:79137	Generalized epilepsy-paroxysmal dyskinesia syndrome			114
HP:0000496	HP:0000639	Nystagmus	2	KCNMA1 CL E G H	3778	6284	ORPHA:79137	Generalized epilepsy-paroxysmal dyskinesia syndrome	HP:0040283 - Occasional		114
HP:0000496	HP:0000486	Strabismus	2	KCNMA1 CL E G H	3778	6284	OMIM:618729	LIANG-WANG SYNDROME; LIWAS			114
HP:0000496	HP:0000639	Nystagmus	2	KCNMA1 CL E G H	3778	6284	OMIM:618729	LIANG-WANG SYNDROME; LIWAS			114
HP:0000496	HP:0000486	Strabismus	2	KCNN2 CL E G H	3781	6291	OMIM:619724	DYSTONIA 34, MYOCLONIC; DYT34
HP:0000496	HP:0000639	Nystagmus	2	KCNN2 CL E G H	3781	6291	OMIM:619724	DYSTONIA 34, MYOCLONIC; DYT34
HP:0000496	HP:0007338	Hypermetric saccades	2	KCNN2 CL E G H	3781	6291	OMIM:619724	DYSTONIA 34, MYOCLONIC; DYT34
HP:0000496	HP:0007772	Impaired smooth pursuit	2	KCNN2 CL E G H	3781	6291	OMIM:619724	DYSTONIA 34, MYOCLONIC; DYT34
HP:0000496	HP:0000486	Strabismus	2	KCNV2 CL E G H	169522	19698	OMIM:610356	Retinal cone dystrophy 3B	HP:0040283 - Occasional		73
HP:0000496	HP:0000639	Nystagmus	2	KCNV2 CL E G H	169522	19698	OMIM:610356	Retinal cone dystrophy 3B			73
HP:0000496	HP:0000486	Strabismus	2	KDM1A CL E G H	23028	29079	OMIM:616728	Cleft palate, psychomotor retardation, and distinctive facial features			3
HP:0000496	HP:0000486	Strabismus	2	KDM1A CL E G H	23028	29079	ORPHA:477993	Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome	HP:0040282 - Frequent		3
HP:0000496	HP:0000486	Strabismus	2	KDM5B CL E G H	10765	18039	OMIM:618109	Mental retardation, autosomal recessive 65	.		2
HP:0000496	HP:0000486	Strabismus	2	KDM5C CL E G H	8242	11114	OMIM:300534	Mental retardation, X-linked, syndromic, Claes-Jensen type			81
HP:0000496	HP:0000486	Strabismus	2	KDM5C CL E G H	8242	11114	ORPHA:85279	Syndromic X-linked intellectual disability due to JARID1C mutation	HP:0040283 - Occasional		81
HP:0000496	HP:0000486	Strabismus	2	KDM6A CL E G H	7403	12637	ORPHA:2322	Kabuki syndrome	HP:0040282 - Frequent		53
HP:0000496	HP:0000639	Nystagmus	2	KDM6A CL E G H	7403	12637	ORPHA:2322	Kabuki syndrome	HP:0040283 - Occasional		53
HP:0000496	HP:0000486	Strabismus	2	KDM6A CL E G H	7403	12637	OMIM:147920	Kabuki syndrome 1	.		53
HP:0000496	HP:0000486	Strabismus	2	KDM6A CL E G H	7403	12637	OMIM:300867	Kabuki syndrome 2			53
HP:0000496	HP:0000639	Nystagmus	2	KDM6A CL E G H	7403	12637	OMIM:300867	Kabuki syndrome 2			53
HP:0000496	HP:0000486	Strabismus	2	KDM6B CL E G H	23135	29012	OMIM:618505	Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities	.		9
HP:0000496	HP:0000486	Strabismus	2	KIAA0586 CL E G H	9786	19960	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional		24
HP:0000496	HP:0000639	Nystagmus	2	KIAA0586 CL E G H	9786	19960	ORPHA:475	Joubert syndrome	HP:0040282 - Frequent		24
HP:0000496	HP:0000486	Strabismus	2	KIAA0586 CL E G H	9786	19960	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy			24
HP:0000496	HP:0000486	Strabismus	2	KIAA0753 CL E G H	9851	29110	OMIM:619476	JOUBERT SYNDROME 38; JBTS38			4
HP:0000496	HP:0000486	Strabismus	2	KIAA0753 CL E G H	9851	29110	ORPHA:2754	Orofaciodigital syndrome type 6			4
HP:0000496	HP:0000639	Nystagmus	2	KIAA0753 CL E G H	9851	29110	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040282 - Frequent		4
HP:0000496	HP:0000602	Ophthalmoplegia	2	KIAA1549 CL E G H	57670	22219	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent
HP:0000496	HP:0000639	Nystagmus	2	KIAA1549 CL E G H	57670	22219	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent
HP:0000496	HP:0000486	Strabismus	2	KIDINS220 CL E G H	57498	29508	OMIM:617296	SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY; SINO			4
HP:0000496	HP:0000639	Nystagmus	2	KIDINS220 CL E G H	57498	29508	OMIM:617296	SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY; SINO			4
HP:0000496	HP:0000486	Strabismus	2	KIDINS220 CL E G H	57498	29508	ORPHA:521390	Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome			4
HP:0000496	HP:0000639	Nystagmus	2	KIDINS220 CL E G H	57498	29508	ORPHA:521390	Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome	HP:0040282 - Frequent		4
HP:0000496	HP:0000639	Nystagmus	2	KIF11 CL E G H	3832	6388	OMIM:152950	Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation	.		46
HP:0000496	HP:0000486	Strabismus	2	KIF14 CL E G H	9928	19181	OMIM:617914	Microcephaly 20, primary, autosomal recessive	.		9
HP:0000496	HP:0000486	Strabismus	2	KIF15 CL E G H	56992	17273	ORPHA:261323	21q22.11q22.12 microdeletion syndrome	HP:0040283 - Occasional
HP:0000496	HP:0000639	Nystagmus	2	KIF1A CL E G H	547	888	OMIM:614255	Mental retardation, autosomal dominant 9	HP:0040283 - Occasional		276
HP:0000496	HP:0010543	Opsoclonus	2	KIF1B CL E G H	23095	16636	OMIM:256700	Neuroblastoma, susceptibility to	.		202
HP:0000496	HP:0032104	Saccadic oscillation	2	KIF1B CL E G H	23095	16636	OMIM:256700	Neuroblastoma, susceptibility to			202
HP:0000496	HP:0000639	Nystagmus	2	KIF1C CL E G H	10749	6317	ORPHA:397946	Autosomal spastic paraplegia type 58			38
HP:0000496	HP:0000639	Nystagmus	2	KIF1C CL E G H	10749	6317	OMIM:611302	Spastic ataxia 2, autosomal recessive			38
HP:0000496	HP:0000486	Strabismus	2	KIF21A CL E G H	55605	19349	OMIM:135700	Fibrosis of extraocular muscles, congenital, 1			93
HP:0000496	HP:0000602	Ophthalmoplegia	2	KIF21A CL E G H	55605	19349	OMIM:135700	Fibrosis of extraocular muscles, congenital, 1			93
HP:0000496	HP:0001477	Compensatory chin elevation	2	KIF21A CL E G H	55605	19349	OMIM:135700	Fibrosis of extraocular muscles, congenital, 1	.		93
HP:0000496	HP:0000486	Strabismus	2	KIF22 CL E G H	3835	6391	ORPHA:93360	Spondyloepimetaphyseal dysplasia with multiple dislocations	HP:0040283 - Occasional		14
HP:0000496	HP:0000639	Nystagmus	2	KIF2A CL E G H	3796	6318	OMIM:615411	Cortical dysplasia, complex, with other brain malformations 3	HP:0040283 - Occasional		15
HP:0000496	HP:0000639	Nystagmus	2	KIF5A CL E G H	3798	6323	OMIM:617235	Myoclonus, intractable, neonatal	.		93
HP:0000496	HP:0000486	Strabismus	2	KIF7 CL E G H	374654	30497	OMIM:200990	Acrocallosal syndrome			167
HP:0000496	HP:0000639	Nystagmus	2	KIF7 CL E G H	374654	30497	OMIM:200990	Acrocallosal syndrome			167
HP:0000496	HP:0000486	Strabismus	2	KIF7 CL E G H	374654	30497	ORPHA:2754	Orofaciodigital syndrome type 6			167
HP:0000496	HP:0000639	Nystagmus	2	KIF7 CL E G H	374654	30497	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040282 - Frequent		167
HP:0000496	HP:0000602	Ophthalmoplegia	2	KIZ CL E G H	55857	15865	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		3
HP:0000496	HP:0000639	Nystagmus	2	KIZ CL E G H	55857	15865	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		3
HP:0000496	HP:0000639	Nystagmus	2	KLC2 CL E G H	64837	20716	OMIM:609541	Spastic paraplegia, optic atrophy, and neuropathy	.		1
HP:0000496	HP:0000639	Nystagmus	2	KLC2 CL E G H	64837	20716	ORPHA:320406	Spastic paraplegia-optic atrophy-neuropathy syndrome	HP:0040283 - Occasional		1
HP:0000496	HP:0000486	Strabismus	2	KLF13 CL E G H	51621	13672	OMIM:612001	Chromosome 15q13.3 microdeletion syndrome
HP:0000496	HP:0000602	Ophthalmoplegia	2	KLHL40 CL E G H	131377	30372	ORPHA:171430	Severe congenital nemaline myopathy	HP:0040283 - Occasional		28
HP:0000496	HP:0000602	Ophthalmoplegia	2	KLHL41 CL E G H	10324	16905	ORPHA:171433	Intermediate nemaline myopathy	HP:0040283 - Occasional		13
HP:0000496	HP:0000602	Ophthalmoplegia	2	KLHL41 CL E G H	10324	16905	ORPHA:171430	Severe congenital nemaline myopathy	HP:0040283 - Occasional		13
HP:0000496	HP:0000602	Ophthalmoplegia	2	KLHL7 CL E G H	55975	15646	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		42
HP:0000496	HP:0000639	Nystagmus	2	KLHL7 CL E G H	55975	15646	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		42
HP:0000496	HP:0000486	Strabismus	2	KMT2A CL E G H	4297	7132	OMIM:605130	Wiedemann-Steiner syndrome	.		91
HP:0000496	HP:0000486	Strabismus	2	KMT2B CL E G H	9757	15840	OMIM:619934				11
HP:0000496	HP:0000639	Nystagmus	2	KMT2B CL E G H	9757	15840	OMIM:619934				11
HP:0000496	HP:0000486	Strabismus	2	KMT2B CL E G H	9757	15840	ORPHA:589618	Dystonia 28			11
HP:0000496	HP:0000639	Nystagmus	2	KMT2B CL E G H	9757	15840	ORPHA:589618	Dystonia 28			11
HP:0000496	HP:0000486	Strabismus	2	KMT2B CL E G H	9757	15840	OMIM:617284	Dystonia 28, childhood-onset			11
HP:0000496	HP:0000486	Strabismus	2	KMT2D CL E G H	8085	7133	ORPHA:2322	Kabuki syndrome	HP:0040282 - Frequent		660
HP:0000496	HP:0000639	Nystagmus	2	KMT2D CL E G H	8085	7133	ORPHA:2322	Kabuki syndrome	HP:0040283 - Occasional		660
HP:0000496	HP:0000486	Strabismus	2	KMT2D CL E G H	8085	7133	OMIM:147920	Kabuki syndrome 1	.		660
HP:0000496	HP:0000486	Strabismus	2	KRAS CL E G H	3845	6407	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040282 - Frequent		196
HP:0000496	HP:0000639	Nystagmus	2	KRAS CL E G H	3845	6407	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040282 - Frequent		196
HP:0000496	HP:0000486	Strabismus	2	KRAS CL E G H	3845	6407	ORPHA:648	Noonan syndrome	HP:0040282 - Frequent		196
HP:0000496	HP:0000639	Nystagmus	2	KRAS CL E G H	3845	6407	ORPHA:648	Noonan syndrome	HP:0040283 - Occasional		196
HP:0000496	HP:0000486	Strabismus	2	KRAS CL E G H	3845	6407	OMIM:609942	Noonan syndrome 3			196
HP:0000496	HP:0000639	Nystagmus	2	KRAS CL E G H	3845	6407	OMIM:609942	Noonan syndrome 3			196
HP:0000496	HP:0000486	Strabismus	2	KRAS CL E G H	3845	6407	OMIM:600268	Oculoectodermal syndrome	.		196
HP:0000496	HP:0000639	Nystagmus	2	KRAS CL E G H	3845	6407	OMIM:600268	Oculoectodermal syndrome	.		196
HP:0000496	HP:0000602	Ophthalmoplegia	2	KRAS CL E G H	3845	6407	OMIM:163200	Schimmelpenning-Feuerstein-Mims syndrome	HP:0040283 - Occasional		196
HP:0000496	HP:0000486	Strabismus	2	KRAS CL E G H	3845	6407	ORPHA:3339	Toriello-Lacassie-Droste syndrome	HP:0040282 - Frequent		196
HP:0000496	HP:0000486	Strabismus	2	KRT10 CL E G H	3858	6413	OMIM:609165	Erythroderma, ichthyosiform, congenital reticular			45
HP:0000496	HP:0000639	Nystagmus	2	KRT10 CL E G H	3858	6413	OMIM:609165	Erythroderma, ichthyosiform, congenital reticular			45
HP:0000496	HP:0000639	Nystagmus	2	KRT14 CL E G H	3861	6416	ORPHA:79396	Autosomal dominant generalized epidermolysis bullosa simplex, severe form			110
HP:0000496	HP:0000486	Strabismus	2	KRT25 CL E G H	147183	30839	ORPHA:170	Woolly hair	HP:0040283 - Occasional		2
HP:0000496	HP:0000639	Nystagmus	2	KRT5 CL E G H	3852	6442	ORPHA:79396	Autosomal dominant generalized epidermolysis bullosa simplex, severe form			173
HP:0000496	HP:0000486	Strabismus	2	KRT71 CL E G H	112802	28927	ORPHA:170	Woolly hair	HP:0040283 - Occasional		1
HP:0000496	HP:0000486	Strabismus	2	KRT74 CL E G H	121391	28929	ORPHA:170	Woolly hair	HP:0040283 - Occasional		5
HP:0000496	HP:0000486	Strabismus	2	L1CAM CL E G H	3897	6470	ORPHA:2182	Hydrocephalus with stenosis of the aqueduct of Sylvius	HP:0040283 - Occasional		134
HP:0000496	HP:0000639	Nystagmus	2	L1CAM CL E G H	3897	6470	ORPHA:2182	Hydrocephalus with stenosis of the aqueduct of Sylvius	HP:0040283 - Occasional		134
HP:0000496	HP:0000486	Strabismus	2	L1CAM CL E G H	3897	6470	OMIM:303350	MASA syndrome	.		134
HP:0000496	HP:0000486	Strabismus	2	L2HGDH CL E G H	79944	20499	OMIM:236792	L-2-Hydroxyglutaric aciduria	.		34
HP:0000496	HP:0000639	Nystagmus	2	L2HGDH CL E G H	79944	20499	OMIM:236792	L-2-Hydroxyglutaric aciduria	.		34
HP:0000496	HP:0000486	Strabismus	2	LAGE3 CL E G H	8270	26058	OMIM:301006	Galloway-Mowat syndrome 2, X-linked
HP:0000496	HP:0000639	Nystagmus	2	LAGE3 CL E G H	8270	26058	OMIM:301006	Galloway-Mowat syndrome 2, X-linked	.
HP:0000496	HP:0000486	Strabismus	2	LAMA1 CL E G H	284217	6481	ORPHA:370022	Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome	HP:0040282 - Frequent		35
HP:0000496	HP:0000639	Nystagmus	2	LAMA1 CL E G H	284217	6481	ORPHA:370022	Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome	HP:0040283 - Occasional		35
HP:0000496	HP:0000486	Strabismus	2	LAMA1 CL E G H	284217	6481	OMIM:615960	Poretti-Boltshauser syndrome	.		35
HP:0000496	HP:0000639	Nystagmus	2	LAMA1 CL E G H	284217	6481	OMIM:615960	Poretti-Boltshauser syndrome	.		35
HP:0000496	HP:0000602	Ophthalmoplegia	2	LAMA2 CL E G H	3908	6482	OMIM:607855	Muscular dystrophy, congenital, merosin deficient or partially deficient	HP:0040283 - Occasional		411
HP:0000496	HP:0000486	Strabismus	2	LAMB2 CL E G H	3913	6487	OMIM:614199	Nephrotic syndrome, type 5, with or without ocular abnormalities			92
HP:0000496	HP:0000639	Nystagmus	2	LAMB2 CL E G H	3913	6487	OMIM:614199	Nephrotic syndrome, type 5, with or without ocular abnormalities			92
HP:0000496	HP:0000486	Strabismus	2	LARGE1 CL E G H	9215	6511	ORPHA:370968	Congenital muscular dystrophy with intellectual disability	HP:0040283 - Occasional		136
HP:0000496	HP:0000486	Strabismus	2	LARGE1 CL E G H	9215	6511	ORPHA:588	Muscle-eye-brain disease	HP:0040281 - Very frequent		136
HP:0000496	HP:0000639	Nystagmus	2	LARGE1 CL E G H	9215	6511	OMIM:608840	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6			136
HP:0000496	HP:0000486	Strabismus	2	LARP7 CL E G H	51574	24912	ORPHA:319671	Alazami syndrome	HP:0040283 - Occasional		16
HP:0000496	HP:0000486	Strabismus	2	LARS2 CL E G H	23395	17095	OMIM:615300	Perrault syndrome 4			54
HP:0000496	HP:0000486	Strabismus	2	LBR CL E G H	3930	6518	OMIM:169400	Pelger-Huet anomaly			70
HP:0000496	HP:0000639	Nystagmus	2	LCA5 CL E G H	167691	31923	ORPHA:65	Leber congenital amaurosis	HP:0040282 - Frequent		70
HP:0000496	HP:0000639	Nystagmus	2	LCA5 CL E G H	167691	31923	OMIM:604537	Leber congenital amaurosis 5			70
HP:0000496	HP:0000486	Strabismus	2	LCA5 CL E G H	167691	31923	ORPHA:364055	Severe early-childhood-onset retinal dystrophy			70
HP:0000496	HP:0000639	Nystagmus	2	LCA5 CL E G H	167691	31923	ORPHA:364055	Severe early-childhood-onset retinal dystrophy	HP:0040282 - Frequent		70
HP:0000496	HP:0000486	Strabismus	2	LEMD3 CL E G H	23592	28887	ORPHA:1306	Buschke-Ollendorff syndrome	HP:0040283 - Occasional		68
HP:0000496	HP:0000639	Nystagmus	2	LETM1 CL E G H	3954	6556	OMIM:620089				2
HP:0000496	HP:0000486	Strabismus	2	LETM1 CL E G H	3954	6556	OMIM:194190	Wolf-Hirschhorn syndrome			2
HP:0000496	HP:0000486	Strabismus	2	LETM1 CL E G H	3954	6556	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040283 - Occasional		2
HP:0000496	HP:0000639	Nystagmus	2	LETM1 CL E G H	3954	6556	OMIM:194190	Wolf-Hirschhorn syndrome			2
HP:0000496	HP:0000639	Nystagmus	2	LETM1 CL E G H	3954	6556	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040283 - Occasional		2
HP:0000496	HP:0000486	Strabismus	2	LGI4 CL E G H	163175	18712	OMIM:617468	Arthrogryposis multiplex congenita, neurogenic, with myelin defect	.		6
HP:0000496	HP:0000602	Ophthalmoplegia	2	LIG3 CL E G H	3980	6600	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy			1
HP:0000496	HP:0000486	Strabismus	2	LIG4 CL E G H	3981	6601	ORPHA:235	Dubowitz syndrome	HP:0040283 - Occasional		88
HP:0000496	HP:0000639	Nystagmus	2	LIG4 CL E G H	3981	6601	ORPHA:235	Dubowitz syndrome	HP:0040283 - Occasional		88
HP:0000496	HP:0000639	Nystagmus	2	LIM2 CL E G H	3982	6610	OMIM:615277	Cataract 19, multiple types	.		16
HP:0000496	HP:0000486	Strabismus	2	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0000496	HP:0000639	Nystagmus	2	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome
HP:0000496	HP:0000486	Strabismus	2	LIPH CL E G H	200879	18483	ORPHA:170	Woolly hair	HP:0040283 - Occasional		12
HP:0000496	HP:0000486	Strabismus	2	LIPT1 CL E G H	51601	29569	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		21
HP:0000496	HP:0000602	Ophthalmoplegia	2	LIPT1 CL E G H	51601	29569	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		21
HP:0000496	HP:0000639	Nystagmus	2	LIPT1 CL E G H	51601	29569	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		21
HP:0000496	HP:0000486	Strabismus	2	LMBRD2 CL E G H	92255	25287	OMIM:619694	DEVELOPMENTAL DELAY WITH VARIABLE NEUROLOGIC AND BRAIN ABNORMALITIES; DENBA
HP:0000496	HP:0000639	Nystagmus	2	LMBRD2 CL E G H	92255	25287	OMIM:619694	DEVELOPMENTAL DELAY WITH VARIABLE NEUROLOGIC AND BRAIN ABNORMALITIES; DENBA
HP:0000496	HP:0000639	Nystagmus	2	LMNB1 CL E G H	4001	6637	ORPHA:99027	Adult-onset autosomal dominant leukodystrophy	HP:0040283 - Occasional		44
HP:0000496	HP:0000486	Strabismus	2	LMNB1 CL E G H	4001	6637	ORPHA:2514	Autosomal dominant primary microcephaly			44
HP:0000496	HP:0000639	Nystagmus	2	LMNB1 CL E G H	4001	6637	ORPHA:2514	Autosomal dominant primary microcephaly			44
HP:0000496	HP:0000639	Nystagmus	2	LMNB1 CL E G H	4001	6637	OMIM:169500	Leukodystrophy, adult-onset, autosomal dominant	.		44
HP:0000496	HP:0000602	Ophthalmoplegia	2	LMOD3 CL E G H	56203	6649	OMIM:616165	Nemaline myopathy 10	.		11
HP:0000496	HP:0000602	Ophthalmoplegia	2	LMOD3 CL E G H	56203	6649	ORPHA:171430	Severe congenital nemaline myopathy	HP:0040283 - Occasional		11
HP:0000496	HP:0000486	Strabismus	2	LMX1B CL E G H	4010	6654	ORPHA:495818	9q33.3q34.11 microdeletion syndrome	HP:0040282 - Frequent		165
HP:0000496	HP:0000639	Nystagmus	2	LOC111365204 CL E G H	111365204		OMIM:600790	Chorioretinal atrophy, progressive bifocal	.
HP:0000496	HP:0000486	Strabismus	2	LONP1 CL E G H	9361	9479	ORPHA:1458	CODAS syndrome	HP:0040283 - Occasional		8
HP:0000496	HP:0000639	Nystagmus	2	LONP1 CL E G H	9361	9479	ORPHA:1458	CODAS syndrome	HP:0040283 - Occasional		8
HP:0000496	HP:0000486	Strabismus	2	LPAR6 CL E G H	10161	15520	ORPHA:170	Woolly hair	HP:0040283 - Occasional		8
HP:0000496	HP:0000639	Nystagmus	2	LRAT CL E G H	9227	6685	ORPHA:65	Leber congenital amaurosis	HP:0040282 - Frequent		62
HP:0000496	HP:0000639	Nystagmus	2	LRAT CL E G H	9227	6685	OMIM:613341	Leber congenital amaurosis 14	.		62
HP:0000496	HP:0000602	Ophthalmoplegia	2	LRAT CL E G H	9227	6685	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		62
HP:0000496	HP:0000639	Nystagmus	2	LRAT CL E G H	9227	6685	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		62
HP:0000496	HP:0000486	Strabismus	2	LRAT CL E G H	9227	6685	ORPHA:364055	Severe early-childhood-onset retinal dystrophy			62
HP:0000496	HP:0000639	Nystagmus	2	LRAT CL E G H	9227	6685	ORPHA:364055	Severe early-childhood-onset retinal dystrophy	HP:0040282 - Frequent		62
HP:0000496	HP:0000486	Strabismus	2	LRIT3 CL E G H	345193	24783	ORPHA:215	Congenital stationary night blindness	HP:0040282 - Frequent		54
HP:0000496	HP:0000639	Nystagmus	2	LRIT3 CL E G H	345193	24783	ORPHA:215	Congenital stationary night blindness	HP:0040282 - Frequent		54
HP:0000496	HP:0000486	Strabismus	2	LRIT3 CL E G H	345193	24783	OMIM:615058	Night blindness, congenital stationary, type 1F	HP:0040283 - Occasional		54
HP:0000496	HP:0000639	Nystagmus	2	LRMDA CL E G H	83938	23405	OMIM:615179	Albinism, oculocutaneous, type V	.		13
HP:0000496	HP:0000602	Ophthalmoplegia	2	LRP12 CL E G H	29967	31708	OMIM:164310	Oculopharyngodistal myopathy 1
HP:0000496	HP:0000639	Nystagmus	2	LRP4 CL E G H	4038	6696	ORPHA:3258	Cenani-Lenz syndrome	HP:0040283 - Occasional		124
HP:0000496	HP:0000639	Nystagmus	2	LRP5 CL E G H	4041	6697	ORPHA:2790	Endosteal hyperostosis, Worth type	HP:0040283 - Occasional		125
HP:0000496	HP:0000486	Strabismus	2	LRP5 CL E G H	4041	6697	OMIM:133780	Exudative vitreoretinopathy 1			125
HP:0000496	HP:0000639	Nystagmus	2	LRP5 CL E G H	4041	6697	OMIM:601813	Exudative vitreoretinopathy 4			125
HP:0000496	HP:0000639	Nystagmus	2	LRP5 CL E G H	4041	6697	ORPHA:2788	Osteoporosis-pseudoglioma syndrome			125
HP:0000496	HP:0000486	Strabismus	2	LRPPRC CL E G H	10128	15714	OMIM:220111	Leigh syndrome, french Canadian type	.		191
HP:0000496	HP:0000486	Strabismus	2	LRRC32 CL E G H	2615	4161	OMIM:619074	CLEFT PALATE, PROLIFERATIVE RETINOPATHY, AND DEVELOPMENTAL DELAY; CPPRDD
HP:0000496	HP:0000639	Nystagmus	2	LSM11 CL E G H	134353	30860	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional
HP:0000496	HP:0000639	Nystagmus	2	LSM11 CL E G H	134353	30860	OMIM:619486	AICARDI-GOUTIERES SYNDROME 8; AGS8
HP:0000496	HP:0000486	Strabismus	2	LUZP1 CL E G H	7798	14985	ORPHA:1606	1p36 deletion syndrome	HP:0040282 - Frequent
HP:0000496	HP:0000639	Nystagmus	2	LUZP1 CL E G H	7798	14985	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0000496	HP:0000486	Strabismus	2	LYRM7 CL E G H	90624	28072	OMIM:615838	Mitochondrial complex III deficiency, nuclear type 8			10
HP:0000496	HP:0000602	Ophthalmoplegia	2	LYRM7 CL E G H	90624	28072	OMIM:615838	Mitochondrial complex III deficiency, nuclear type 8			10
HP:0000496	HP:0000639	Nystagmus	2	LYRM7 CL E G H	90624	28072	OMIM:615838	Mitochondrial complex III deficiency, nuclear type 8	.		10
HP:0000496	HP:0000486	Strabismus	2	LYST CL E G H	1130	1968	ORPHA:167	Chédiak-Higashi syndrome	HP:0040283 - Occasional		239
HP:0000496	HP:0000639	Nystagmus	2	LYST CL E G H	1130	1968	ORPHA:167	Chédiak-Higashi syndrome			239
HP:0000496	HP:0000486	Strabismus	2	LYST CL E G H	1130	1968	OMIM:214500	Chediak-Higashi syndrome			239
HP:0000496	HP:0000639	Nystagmus	2	LYST CL E G H	1130	1968	OMIM:214500	Chediak-Higashi syndrome			239
HP:0000496	HP:0000639	Nystagmus	2	LZTFL1 CL E G H	54585	6741	ORPHA:110	Bardet-Biedl syndrome	HP:0040282 - Frequent		4
HP:0000496	HP:0000486	Strabismus	2	LZTR1 CL E G H	8216	6742	ORPHA:648	Noonan syndrome	HP:0040282 - Frequent		43
HP:0000496	HP:0000639	Nystagmus	2	LZTR1 CL E G H	8216	6742	ORPHA:648	Noonan syndrome	HP:0040283 - Occasional		43
HP:0000496	HP:0000486	Strabismus	2	MAB21L1 CL E G H	4081	6757	OMIM:618479	Cerebellar, ocular, craniofacial, and genital syndrome	.
HP:0000496	HP:0000639	Nystagmus	2	MAB21L1 CL E G H	4081	6757	OMIM:618479	Cerebellar, ocular, craniofacial, and genital syndrome
HP:0000496	HP:0000486	Strabismus	2	MAB21L2 CL E G H	10586	6758	OMIM:615877	Microphthalmia/coloboma and skeletal dysplasia syndrome	.		5
HP:0000496	HP:0000639	Nystagmus	2	MAB21L2 CL E G H	10586	6758	OMIM:615877	Microphthalmia/coloboma and skeletal dysplasia syndrome	.		5
HP:0000496	HP:0000486	Strabismus	2	MACF1 CL E G H	23499	13664	OMIM:618325	Lissencephaly 9 with complex brainstem malformation	.		2
HP:0000496	HP:0000486	Strabismus	2	MACF1 CL E G H	23499	13664	ORPHA:572013	Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome			2
HP:0000496	HP:0000486	Strabismus	2	MAD2L2 CL E G H	10459	6764	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		1
HP:0000496	HP:0000639	Nystagmus	2	MAD2L2 CL E G H	10459	6764	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		1
HP:0000496	HP:0000486	Strabismus	2	MADD CL E G H	8567	6766	OMIM:619004	DEEAH SYNDROME; DEEAH			5
HP:0000496	HP:0000486	Strabismus	2	MADD CL E G H	8567	6766	OMIM:619005	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA; NEDDISH			5
HP:0000496	HP:0000639	Nystagmus	2	MAF CL E G H	4094	6776	ORPHA:1377	Cataract-microcornea syndrome	HP:0040283 - Occasional		21
HP:0000496	HP:0000486	Strabismus	2	MAFB CL E G H	9935	6408	ORPHA:233	Duane retraction syndrome	HP:0040281 - Very frequent		63
HP:0000496	HP:0000639	Nystagmus	2	MAFB CL E G H	9935	6408	ORPHA:233	Duane retraction syndrome	HP:0040283 - Occasional		63
HP:0000496	HP:0012246	Oculomotor nerve palsy	2	MAFB CL E G H	9935	6408	ORPHA:233	Duane retraction syndrome	HP:0040281 - Very frequent		63
HP:0000496	HP:0000486	Strabismus	2	MAFB CL E G H	9935	6408	OMIM:617041	Duane retraction syndrome 3 with or without deafness			63
HP:0000496	HP:0000634	Impaired ocular abduction	2	MAFB CL E G H	9935	6408	OMIM:617041	Duane retraction syndrome 3 with or without deafness	.		63
HP:0000496	HP:0000639	Nystagmus	2	MAG CL E G H	4099	6783	ORPHA:459056	Autosomal recessive spastic paraplegia type 75	HP:0040282 - Frequent		4
HP:0000496	HP:0000639	Nystagmus	2	MAG CL E G H	4099	6783	OMIM:616680	Spastic paraplegia 75, autosomal recessive	.		4
HP:0000496	HP:0000486	Strabismus	2	MAGEL2 CL E G H	54551	6814	ORPHA:398069	MAGEL2-related Prader-Willi-like syndrome	HP:0040282 - Frequent		63
HP:0000496	HP:0000486	Strabismus	2	MAGEL2 CL E G H	54551	6814	OMIM:176270	Prader-Willi syndrome			63
HP:0000496	HP:0000486	Strabismus	2	MAGEL2 CL E G H	54551	6814	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	HP:0040282 - Frequent		63
HP:0000496	HP:0000486	Strabismus	2	MAGEL2 CL E G H	54551	6814	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040282 - Frequent		63
HP:0000496	HP:0000486	Strabismus	2	MAGEL2 CL E G H	54551	6814	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040282 - Frequent		63
HP:0000496	HP:0000486	Strabismus	2	MAGEL2 CL E G H	54551	6814	OMIM:615547	Schaaf-Yang syndrome			63
HP:0000496	HP:0000602	Ophthalmoplegia	2	MAK CL E G H	4117	6816	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		53
HP:0000496	HP:0000639	Nystagmus	2	MAK CL E G H	4117	6816	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		53
HP:0000496	HP:0000486	Strabismus	2	MAN1B1 CL E G H	11253	6823	OMIM:614202	Rafiq syndrome			93
HP:0000496	HP:0000639	Nystagmus	2	MAN2B1 CL E G H	4125	6826	OMIM:248500	Alpha-mannosidosis	.		136
HP:0000496	HP:0007772	Impaired smooth pursuit	2	MAN2B1 CL E G H	4125	6826	OMIM:248500	Alpha-mannosidosis	.	HP:0003581 - Adult onset	136
HP:0000496	HP:0000486	Strabismus	2	MAN2B1 CL E G H	4125	6826	ORPHA:309282	Alpha-mannosidosis, infantile form	HP:0040282 - Frequent		136
HP:0000496	HP:0000486	Strabismus	2	MAP2K1 CL E G H	5604	6840	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040282 - Frequent		134
HP:0000496	HP:0000639	Nystagmus	2	MAP2K1 CL E G H	5604	6840	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040282 - Frequent		134
HP:0000496	HP:0000639	Nystagmus	2	MAP2K1 CL E G H	5604	6840	OMIM:615279	Cardiofaciocutaneous syndrome 3	.		134
HP:0000496	HP:0000486	Strabismus	2	MAP2K2 CL E G H	5605	6842	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040282 - Frequent		178
HP:0000496	HP:0000639	Nystagmus	2	MAP2K2 CL E G H	5605	6842	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040282 - Frequent		178
HP:0000496	HP:0000486	Strabismus	2	MAP2K2 CL E G H	5605	6842	OMIM:615280	Cardiofaciocutaneous syndrome 4	.		178
HP:0000496	HP:0000639	Nystagmus	2	MAP2K2 CL E G H	5605	6842	OMIM:615280	Cardiofaciocutaneous syndrome 4	.		178
HP:0000496	HP:0000602	Ophthalmoplegia	2	MAP3K20 CL E G H	51776	17797	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		2
HP:0000496	HP:0000486	Strabismus	2	MAP3K7 CL E G H	6885	6859	OMIM:157800	Cardiospondylocarpofacial syndrome	.		11
HP:0000496	HP:0000486	Strabismus	2	MAPK8IP3 CL E G H	23162	6884	OMIM:618443	Neurodevelopmental disorder with or without variable brain abnormalities	.
HP:0000496	HP:0000639	Nystagmus	2	MAPK8IP3 CL E G H	23162	6884	OMIM:618443	Neurodevelopmental disorder with or without variable brain abnormalities
HP:0000496	HP:0000639	Nystagmus	2	MAPKAPK5 CL E G H	8550	6889	OMIM:619869
HP:0000496	HP:0000486	Strabismus	2	MAPRE2 CL E G H	10982	6891	OMIM:616734	Skin creases, congenital symmetric circumferential, 2			4
HP:0000496	HP:0000514	Slow saccadic eye movements	2	MAPT CL E G H	4137	6893	ORPHA:240071	Classic progressive supranuclear palsy syndrome	HP:0040282 - Frequent		140
HP:0000496	HP:0000605	Supranuclear gaze palsy	2	MAPT CL E G H	4137	6893	ORPHA:240071	Classic progressive supranuclear palsy syndrome	HP:0040282 - Frequent		140
HP:0000496	HP:0000514	Slow saccadic eye movements	2	MAPT CL E G H	4137	6893	ORPHA:240103	Progressive supranuclear palsy-corticobasal syndrome	HP:0040281 - Very frequent		140
HP:0000496	HP:0000605	Supranuclear gaze palsy	2	MAPT CL E G H	4137	6893	ORPHA:240103	Progressive supranuclear palsy-corticobasal syndrome			140
HP:0000496	HP:0000605	Supranuclear gaze palsy	2	MAPT CL E G H	4137	6893	ORPHA:240085	Progressive supranuclear palsy-parkinsonism syndrome			140
HP:0000496	HP:0000605	Supranuclear gaze palsy	2	MAPT CL E G H	4137	6893	ORPHA:240112	Progressive supranuclear palsy-progressive non-fluent aphasia syndrome			140
HP:0000496	HP:0000571	Hypometric saccades	2	MAPT CL E G H	4137	6893	ORPHA:240094	Progressive supranuclear palsy-pure akinesia with gait freezing syndrome	HP:0040284 - Very rare		140
HP:0000496	HP:0000605	Supranuclear gaze palsy	2	MAPT CL E G H	4137	6893	OMIM:601104	Supranuclear palsy, progressive, 1	.		140
HP:0000496	HP:0000639	Nystagmus	2	MARS2 CL E G H	92935	25133	ORPHA:314603	Autosomal recessive spastic ataxia with leukoencephalopathy			25
HP:0000496	HP:0000639	Nystagmus	2	MARS2 CL E G H	92935	25133	OMIM:611390	Spastic ataxia 3, autosomal recessive			25
HP:0000496	HP:0000486	Strabismus	2	MBD5 CL E G H	55777	20444	OMIM:156200	Mental retardation, autosomal dominant 1			252
HP:0000496	HP:0000639	Nystagmus	2	MBTPS2 CL E G H	51360	15455	ORPHA:2273	Ichthyosis follicularis-alopecia-photophobia syndrome	HP:0040283 - Occasional		22
HP:0000496	HP:0000486	Strabismus	2	MC1R CL E G H	4157	6929	OMIM:203200	Albinism, oculocutaneous, type II	.		124
HP:0000496	HP:0000639	Nystagmus	2	MC1R CL E G H	4157	6929	OMIM:203200	Albinism, oculocutaneous, type II	.		124
HP:0000496	HP:0000639	Nystagmus	2	MC1R CL E G H	4157	6929	ORPHA:79432	Oculocutaneous albinism type 2	HP:0040282 - Frequent		124
HP:0000496	HP:0000486	Strabismus	2	MCM3AP CL E G H	8888	6946	OMIM:618124	Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development	.		3
HP:0000496	HP:0000602	Ophthalmoplegia	2	MCM3AP CL E G H	8888	6946	OMIM:618124	Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development	HP:0040284 - Very rare		3
HP:0000496	HP:0000486	Strabismus	2	MCOLN1 CL E G H	57192	13356	OMIM:252650	Mucolipidosis IV			78
HP:0000496	HP:0000486	Strabismus	2	MCOLN1 CL E G H	57192	13356	ORPHA:578	Mucolipidosis type IV	HP:0040281 - Very frequent		78
HP:0000496	HP:0000639	Nystagmus	2	MCOLN1 CL E G H	57192	13356	ORPHA:578	Mucolipidosis type IV	HP:0040282 - Frequent		78
HP:0000496	HP:0000486	Strabismus	2	MCTP2 CL E G H	55784	25636	ORPHA:1596	Distal monosomy 15q	HP:0040282 - Frequent		3
HP:0000496	HP:0000486	Strabismus	2	MDH2 CL E G H	4191	6971	OMIM:617339	Epileptic encephalopathy, early infantile, 51	.		4
HP:0000496	HP:0000486	Strabismus	2	MECR CL E G H	51102	19691	OMIM:617282	Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities			6
HP:0000496	HP:0000514	Slow saccadic eye movements	2	MECR CL E G H	51102	19691	OMIM:617282	Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities			6
HP:0000496	HP:0000639	Nystagmus	2	MECR CL E G H	51102	19691	OMIM:617282	Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities	.		6
HP:0000496	HP:0000486	Strabismus	2	MECR CL E G H	51102	19691	ORPHA:508093	MEPAN syndrome			6
HP:0000496	HP:0000639	Nystagmus	2	MECR CL E G H	51102	19691	ORPHA:508093	MEPAN syndrome			6
HP:0000496	HP:0000486	Strabismus	2	MED12 CL E G H	9968	11957	ORPHA:93932	FG syndrome type 1	HP:0040282 - Frequent		228
HP:0000496	HP:0000486	Strabismus	2	MED12 CL E G H	9968	11957	OMIM:301068	HARDIKAR SYNDROME; HDKR			228
HP:0000496	HP:0000486	Strabismus	2	MED12 CL E G H	9968	11957	OMIM:300895	Ohdo syndrome, X-linked			228
HP:0000496	HP:0000639	Nystagmus	2	MED12 CL E G H	9968	11957	OMIM:300895	Ohdo syndrome, X-linked			228
HP:0000496	HP:0000486	Strabismus	2	MED12 CL E G H	9968	11957	OMIM:305450	Opitz-Kaveggia syndrome	.		228
HP:0000496	HP:0000486	Strabismus	2	MED12L CL E G H	116931	16050	OMIM:618872	NIZON-ISIDOR SYNDROME; NIZIDS
HP:0000496	HP:0000486	Strabismus	2	MED13 CL E G H	9969	22474	OMIM:618009	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 61; MRD61			4
HP:0000496	HP:0000486	Strabismus	2	MED13L CL E G H	23389	22962	OMIM:616789	Mental retardation and distinctive facial features with or without cardiac defects	.		74
HP:0000496	HP:0000486	Strabismus	2	MED25 CL E G H	81857	28845	OMIM:616449	Basel-Vanagaite-Smirin-Yosef syndrome	.		43
HP:0000496	HP:0000486	Strabismus	2	MED25 CL E G H	81857	28845	ORPHA:464738	Basel-Vanagaite-Smirin-Yosef syndrome	HP:0040283 - Occasional		43
HP:0000496	HP:0000486	Strabismus	2	MEF2C CL E G H	4208	6996	ORPHA:228384	5q14.3 microdeletion syndrome	HP:0040283 - Occasional		132
HP:0000496	HP:0000486	Strabismus	2	MEG3 CL E G H	55384	14575	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion			1
HP:0000496	HP:0000602	Ophthalmoplegia	2	MEN1 CL E G H	4221	7010	ORPHA:2965	Prolactinoma			462
HP:0000496	HP:0012246	Oculomotor nerve palsy	2	MEN1 CL E G H	4221	7010	ORPHA:2965	Prolactinoma	HP:0040283 - Occasional		462
HP:0000496	HP:0000602	Ophthalmoplegia	2	MERTK CL E G H	10461	7027	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		75
HP:0000496	HP:0000639	Nystagmus	2	MERTK CL E G H	10461	7027	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		75
HP:0000496	HP:0000486	Strabismus	2	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome	HP:0040282 - Frequent		1
HP:0000496	HP:0000639	Nystagmus	2	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome			1
HP:0000496	HP:0000486	Strabismus	2	METTL5 CL E G H	29081	25006	OMIM:618665	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 72; MRT72
HP:0000496	HP:0000602	Ophthalmoplegia	2	MFF CL E G H	56947	24858	OMIM:617086	Encephalopathy due to defective mitochondrial and peroxisomal fission 2			17
HP:0000496	HP:0000602	Ophthalmoplegia	2	MFF CL E G H	56947	24858	ORPHA:485421	MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect			17
HP:0000496	HP:0000641	Dysmetric saccades	2	MFN2 CL E G H	9927	16877	OMIM:601152	Hereditary motor and sensory neuropathy VI	.		203
HP:0000496	HP:0000486	Strabismus	2	MFRP CL E G H	83552	18121	ORPHA:35612	Nanophthalmos	HP:0040281 - Very frequent		26
HP:0000496	HP:0000602	Ophthalmoplegia	2	MGME1 CL E G H	92667	16205	OMIM:615084	Mitochondrial DNA depletion syndrome 11			11
HP:0000496	HP:0000602	Ophthalmoplegia	2	MGME1 CL E G H	92667	16205	ORPHA:352447	Progressive external ophthalmoplegia-myopathy-emaciation syndrome			11
HP:0000496	HP:0000639	Nystagmus	2	MICOS13 CL E G H	125988	33702	ORPHA:67047	3-methylglutaconic aciduria type 3	HP:0040282 - Frequent
HP:0000496	HP:0000602	Ophthalmoplegia	2	MICU1 CL E G H	10367	1530	ORPHA:401768	Proximal myopathy with extrapyramidal signs	HP:0040283 - Occasional		14
HP:0000496	HP:0000486	Strabismus	2	MID1 CL E G H	4281	7095	ORPHA:2745	Opitz GBBB syndrome	HP:0040284 - Very rare		57
HP:0000496	HP:0000486	Strabismus	2	MID2 CL E G H	11043	7096	OMIM:300928	MENTAL RETARDATION, X-LINKED 101; MRX101			7
HP:0000496	HP:0000639	Nystagmus	2	MINPP1 CL E G H	9562	7102	ORPHA:284339	Pontocerebellar hypoplasia type 7	HP:0040283 - Occasional		3
HP:0000496	HP:0000639	Nystagmus	2	MINPP1 CL E G H	9562	7102	OMIM:619527	PONTOCEREBELLAR HYPOPLASIA, TYPE 16; PCH16			3
HP:0000496	HP:0000639	Nystagmus	2	MKKS CL E G H	8195	7108	ORPHA:110	Bardet-Biedl syndrome	HP:0040282 - Frequent		69
HP:0000496	HP:0000486	Strabismus	2	MKRN3 CL E G H	7681	7114	OMIM:176270	Prader-Willi syndrome			5
HP:0000496	HP:0000486	Strabismus	2	MKRN3-AS1 CL E G H	10108		OMIM:176270	Prader-Willi syndrome
HP:0000496	HP:0000639	Nystagmus	2	MKS1 CL E G H	54903	7121	ORPHA:110	Bardet-Biedl syndrome	HP:0040282 - Frequent		127
HP:0000496	HP:0000486	Strabismus	2	MKS1 CL E G H	54903	7121	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional		127
HP:0000496	HP:0000639	Nystagmus	2	MKS1 CL E G H	54903	7121	ORPHA:475	Joubert syndrome	HP:0040282 - Frequent		127
HP:0000496	HP:0000486	Strabismus	2	MKS1 CL E G H	54903	7121	OMIM:617121	JOUBERT SYNDROME 28; JBTS28			127
HP:0000496	HP:0000639	Nystagmus	2	MKS1 CL E G H	54903	7121	OMIM:617121	JOUBERT SYNDROME 28; JBTS28			127
HP:0000496	HP:0000486	Strabismus	2	MKS1 CL E G H	54903	7121	ORPHA:220493	Joubert syndrome with ocular defect	HP:0040283 - Occasional		127
HP:0000496	HP:0000639	Nystagmus	2	MKS1 CL E G H	54903	7121	ORPHA:220493	Joubert syndrome with ocular defect	HP:0040282 - Frequent		127
HP:0000496	HP:0000639	Nystagmus	2	MKS1 CL E G H	54903	7121	OMIM:249000	Meckel syndrome 1			127
HP:0000496	HP:0000486	Strabismus	2	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome	HP:0040282 - Frequent		1
HP:0000496	HP:0000639	Nystagmus	2	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome			1
HP:0000496	HP:0000486	Strabismus	2	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome			1
HP:0000496	HP:0000639	Nystagmus	2	MMACHC CL E G H	25974	24525	ORPHA:79282	Methylmalonic acidemia with homocystinuria, type cblC	HP:0040282 - Frequent		101
HP:0000496	HP:0000639	Nystagmus	2	MMACHC CL E G H	25974	24525	OMIM:277400	Methylmalonic aciduria and homocystinuria, Cblc type	.		101
HP:0000496	HP:0000639	Nystagmus	2	MMADHC CL E G H	27249	25221	OMIM:277410	Methylmalonic aciduria and homocystinuria, Cbld type	.		50
HP:0000496	HP:0000571	Hypometric saccades	2	MME CL E G H	4311	7154	OMIM:617018	SPINOCEREBELLAR ATAXIA 43; SCA43			18
HP:0000496	HP:0000639	Nystagmus	2	MME CL E G H	4311	7154	OMIM:617018	SPINOCEREBELLAR ATAXIA 43; SCA43			18
HP:0000496	HP:0000571	Hypometric saccades	2	MME CL E G H	4311	7154	ORPHA:497764	Spinocerebellar ataxia type 43	HP:0040282 - Frequent		18
HP:0000496	HP:0000486	Strabismus	2	MMP23B CL E G H	8510	7171	ORPHA:1606	1p36 deletion syndrome	HP:0040282 - Frequent
HP:0000496	HP:0000639	Nystagmus	2	MMP23B CL E G H	8510	7171	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0000496	HP:0000486	Strabismus	2	MN1 CL E G H	4330	7180	OMIM:618774	CEBALID SYNDROME; CEBALID			1
HP:0000496	HP:0000639	Nystagmus	2	MN1 CL E G H	4330	7180	OMIM:618774	CEBALID SYNDROME; CEBALID			1
HP:0000496	HP:0000639	Nystagmus	2	MOCS1 CL E G H	4337	7190	OMIM:252150	Molybdenum cofactor deficiency, complementation group A	.		96
HP:0000496	HP:0000639	Nystagmus	2	MOCS2 CL E G H	4338	7193	OMIM:252160	Molybdenum cofactor deficiency, complementation group B	.		26
HP:0000496	HP:0000639	Nystagmus	2	MPC1 CL E G H	51660	21606	OMIM:614741	Mitochondrial pyruvate carrier deficiency			6
HP:0000496	HP:0000486	Strabismus	2	MPDU1 CL E G H	9526	7207	OMIM:609180	Congenital disorder of glycosylation, type IF	.		32
HP:0000496	HP:0000639	Nystagmus	2	MPDU1 CL E G H	9526	7207	OMIM:609180	Congenital disorder of glycosylation, type IF	.		32
HP:0000496	HP:0000486	Strabismus	2	MPDZ CL E G H	8777	7208	OMIM:615219	Hydrocephalus, congenital, 2, with or without brain or eye anomalies	.		29
HP:0000496	HP:0000486	Strabismus	2	MPLKIP CL E G H	136647	16002	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		9
HP:0000496	HP:0000639	Nystagmus	2	MPLKIP CL E G H	136647	16002	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		9
HP:0000496	HP:0000639	Nystagmus	2	MPLKIP CL E G H	136647	16002	OMIM:234050	Trichothiodystrophy 4, nonphotosensitive	HP:0040283 - Occasional		9
HP:0000496	HP:0000639	Nystagmus	2	MPV17 CL E G H	4358	7224	OMIM:256810	Navajo neurohepatopathy	.		56
HP:0000496	HP:0000639	Nystagmus	2	MPZ CL E G H	4359	7225	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas	HP:0040283 - Occasional		134
HP:0000496	HP:0000639	Nystagmus	2	MPZ CL E G H	4359	7225	ORPHA:3115	Roussy-Lévy syndrome	HP:0040282 - Frequent		134
HP:0000496	HP:0000486	Strabismus	2	MRAS CL E G H	22808	7227	ORPHA:648	Noonan syndrome	HP:0040282 - Frequent
HP:0000496	HP:0000639	Nystagmus	2	MRAS CL E G H	22808	7227	ORPHA:648	Noonan syndrome	HP:0040283 - Occasional
HP:0000496	HP:0000514	Slow saccadic eye movements	2	MRE11 CL E G H	4361	7230	ORPHA:251347	Ataxia-telangiectasia-like disorder	HP:0040282 - Frequent		532
HP:0000496	HP:0000639	Nystagmus	2	MRE11 CL E G H	4361	7230	ORPHA:251347	Ataxia-telangiectasia-like disorder			532
HP:0000496	HP:0000641	Dysmetric saccades	2	MRE11 CL E G H	4361	7230	ORPHA:251347	Ataxia-telangiectasia-like disorder	HP:0040283 - Occasional		532
HP:0000496	HP:0000571	Hypometric saccades	2	MRE11 CL E G H	4361	7230	OMIM:604391	Ataxia-Telangiectasia-Like disorder 1	.		532
HP:0000496	HP:0000639	Nystagmus	2	MRE11 CL E G H	4361	7230	OMIM:604391	Ataxia-Telangiectasia-Like disorder 1			532
HP:0000496	HP:0007772	Impaired smooth pursuit	2	MRE11 CL E G H	4361	7230	OMIM:604391	Ataxia-Telangiectasia-Like disorder 1	.		532
HP:0000496	HP:0000639	Nystagmus	2	MRPL12 CL E G H	6182	10378	OMIM:618951	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 45; COXPD45			11
HP:0000496	HP:0000486	Strabismus	2	MRPS2 CL E G H	51116	14495	OMIM:617950	Combined oxidative phosphorylation deficiency 36
HP:0000496	HP:0000486	Strabismus	2	MRPS34 CL E G H	65993	16618	OMIM:617664	Combined oxidative phosphorylation deficiency 32	.		1
HP:0000496	HP:0000639	Nystagmus	2	MRPS34 CL E G H	65993	16618	OMIM:617664	Combined oxidative phosphorylation deficiency 32	.		1
HP:0000496	HP:0000486	Strabismus	2	MTFMT CL E G H	123263	29666	OMIM:614947	Combined oxidative phosphorylation deficiency 15	HP:0040283 - Occasional		29
HP:0000496	HP:0000639	Nystagmus	2	MTFMT CL E G H	123263	29666	OMIM:614947	Combined oxidative phosphorylation deficiency 15	HP:0040283 - Occasional		29
HP:0000496	HP:0000486	Strabismus	2	MTFMT CL E G H	123263	29666	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		29
HP:0000496	HP:0000602	Ophthalmoplegia	2	MTFMT CL E G H	123263	29666	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		29
HP:0000496	HP:0000639	Nystagmus	2	MTFMT CL E G H	123263	29666	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		29
HP:0000496	HP:0000605	Supranuclear gaze palsy	2	MTFMT CL E G H	123263	29666	OMIM:618248	Mitochondrial complex I deficiency, nuclear type 27			29
HP:0000496	HP:0000639	Nystagmus	2	MTHFR CL E G H	4524	7436	ORPHA:395	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	HP:0040284 - Very rare		183
HP:0000496	HP:0000602	Ophthalmoplegia	2	MTM1 CL E G H	4534	7448	OMIM:310400	Myopathy, centronuclear, X-linked			185
HP:0000496	HP:0000602	Ophthalmoplegia	2	MTMR14 CL E G H	64419	26190	ORPHA:169189	Autosomal dominant centronuclear myopathy			7
HP:0000496	HP:0000602	Ophthalmoplegia	2	MTMR14 CL E G H	64419	26190	OMIM:160150	Myopathy, centronuclear, autosomal dominant			7
HP:0000496	HP:0012246	Oculomotor nerve palsy	2	MTOR CL E G H	2475	3942	ORPHA:99802	Hemimegalencephaly	HP:0040283 - Occasional		68
HP:0000496	HP:0000486	Strabismus	2	MTOR CL E G H	2475	3942	ORPHA:457485	Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome	HP:0040283 - Occasional		68
HP:0000496	HP:0000486	Strabismus	2	MTOR CL E G H	2475	3942	OMIM:616638	Smith-Kingsmore syndrome	.		68
HP:0000496	HP:0000639	Nystagmus	2	MTPAP CL E G H	55149	25532	ORPHA:254343	Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome	HP:0040282 - Frequent		19
HP:0000496	HP:0000639	Nystagmus	2	MTPAP CL E G H	55149	25532	OMIM:613672	Spastic ataxia 4, autosomal recessive	.		19
HP:0000496	HP:0000639	Nystagmus	2	MTR CL E G H	4548	7468	OMIM:250940	Homocystinuria-megaloblastic anemia, cblg Complementation type	HP:0040283 - Occasional		217
HP:0000496	HP:0000486	Strabismus	2	MTRFR CL E G H	91574	26784	ORPHA:320375	Autosomal recessive spastic paraplegia type 55	HP:0040283 - Occasional
HP:0000496	HP:0000602	Ophthalmoplegia	2	MTRFR CL E G H	91574	26784	ORPHA:320375	Autosomal recessive spastic paraplegia type 55	HP:0040283 - Occasional
HP:0000496	HP:0000486	Strabismus	2	MTRFR CL E G H	91574	26784	ORPHA:254930	Combined oxidative phosphorylation defect type 7
HP:0000496	HP:0000602	Ophthalmoplegia	2	MTRFR CL E G H	91574	26784	ORPHA:254930	Combined oxidative phosphorylation defect type 7	HP:0040282 - Frequent
HP:0000496	HP:0000639	Nystagmus	2	MTRFR CL E G H	91574	26784	ORPHA:254930	Combined oxidative phosphorylation defect type 7	HP:0040283 - Occasional
HP:0000496	HP:0000486	Strabismus	2	MTRFR CL E G H	91574	26784	OMIM:613559	Combined oxidative phosphorylation deficiency 7
HP:0000496	HP:0000602	Ophthalmoplegia	2	MTRFR CL E G H	91574	26784	OMIM:613559	Combined oxidative phosphorylation deficiency 7	.
HP:0000496	HP:0000639	Nystagmus	2	MTRFR CL E G H	91574	26784	OMIM:613559	Combined oxidative phosphorylation deficiency 7	.
HP:0000496	HP:0000486	Strabismus	2	MTRFR CL E G H	91574	26784	OMIM:615035	Spastic paraplegia 55, autosomal recessive	.
HP:0000496	HP:0000639	Nystagmus	2	MTRFR CL E G H	91574	26784	OMIM:615035	Spastic paraplegia 55, autosomal recessive	HP:0040283 - Occasional
HP:0000496	HP:0000639	Nystagmus	2	MTRR CL E G H	4552	7473	OMIM:236270	Homocystinuria-megaloblastic anemia, cbl E type	HP:0040283 - Occasional		88
HP:0000496	HP:0000639	Nystagmus	2	MTRR CL E G H	4552	7473	ORPHA:2169	Methylcobalamin deficiency type cblE	HP:0040283 - Occasional		88
HP:0000496	HP:0000639	Nystagmus	2	MTSS2 CL E G H	92154	25094	OMIM:620086
HP:0000496	HP:0000602	Ophthalmoplegia	2	MTTP CL E G H	4547	7467	ORPHA:14	Abetalipoproteinemia	HP:0040284 - Very rare		81
HP:0000496	HP:0000602	Ophthalmoplegia	2	MUSK CL E G H	4593	7525	OMIM:616325	Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency	.		72
HP:0000496	HP:0000639	Nystagmus	2	MVK CL E G H	4598	7530	OMIM:610377	Mevalonic aciduria	.		150
HP:0000496	HP:0000486	Strabismus	2	MYF5 CL E G H	4617	7565	OMIM:618155	Ophthalmoplegia, external, with rib and vertebral anomalies
HP:0000496	HP:0000602	Ophthalmoplegia	2	MYF5 CL E G H	4617	7565	OMIM:618155	Ophthalmoplegia, external, with rib and vertebral anomalies
HP:0000496	HP:0000602	Ophthalmoplegia	2	MYF6 CL E G H	4618	7566	ORPHA:169189	Autosomal dominant centronuclear myopathy			19
HP:0000496	HP:0000602	Ophthalmoplegia	2	MYH2 CL E G H	4620	7572	OMIM:605637	Myopathy, proximal, and ophthalmoplegia	.		105
HP:0000496	HP:0000486	Strabismus	2	MYH3 CL E G H	4621	7573	OMIM:193700	Arthrogryposis, distal, type 2A			166
HP:0000496	HP:0000486	Strabismus	2	MYH3 CL E G H	4621	7573	ORPHA:2990	Autosomal recessive multiple pterygium syndrome	HP:0040283 - Occasional		166
HP:0000496	HP:0000486	Strabismus	2	MYH3 CL E G H	4621	7573	ORPHA:2053	Freeman-Sheldon syndrome	HP:0040282 - Frequent		166
HP:0000496	HP:0000602	Ophthalmoplegia	2	MYH7 CL E G H	4625	7577	OMIM:255310	Myopathy, congenital, with fiber-type disproportion			1269
HP:0000496	HP:0000602	Ophthalmoplegia	2	MYL2 CL E G H	4633	7583	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		131
HP:0000496	HP:0000602	Ophthalmoplegia	2	MYMK CL E G H	389827	33778	OMIM:254940	Carey-Fineman-Ziter syndrome	.		5
HP:0000496	HP:0000634	Impaired ocular abduction	2	MYMK CL E G H	389827	33778	ORPHA:1358	Carey-Fineman-Ziter syndrome	HP:0040281 - Very frequent		5
HP:0000496	HP:0012246	Oculomotor nerve palsy	2	MYMK CL E G H	389827	33778	OMIM:254940	Carey-Fineman-Ziter syndrome	.		5
HP:0000496	HP:0000634	Impaired ocular abduction	2	MYMX CL E G H	101929726	52391	ORPHA:1358	Carey-Fineman-Ziter syndrome	HP:0040281 - Very frequent
HP:0000496	HP:0000486	Strabismus	2	MYO1H CL E G H	283446	13879	OMIM:619482	CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, 2, AND AUTONOMIC DYSFUNCTION; CCHS2
HP:0000496	HP:0000639	Nystagmus	2	MYO5A CL E G H	4644	7602	ORPHA:79476	Griscelli syndrome type 1	HP:0040281 - Very frequent		35
HP:0000496	HP:0000486	Strabismus	2	MYO5A CL E G H	4644	7602	ORPHA:33445	Neuroectodermal melanolysosomal disease	HP:0040283 - Occasional		35
HP:0000496	HP:0000639	Nystagmus	2	MYO5A CL E G H	4644	7602	ORPHA:33445	Neuroectodermal melanolysosomal disease	HP:0040283 - Occasional		35
HP:0000496	HP:0000639	Nystagmus	2	MYO7A CL E G H	4647	7606	ORPHA:231178	Usher syndrome type 2	HP:0040283 - Occasional		516
HP:0000496	HP:0000639	Nystagmus	2	MYO7A CL E G H	4647	7606	OMIM:276900	Usher syndrome, type I			516
HP:0000496	HP:0000602	Ophthalmoplegia	2	MYO9A CL E G H	4649	7608	OMIM:618198	Myasthenic syndrome, congenital, 24, presynaptic	.
HP:0000496	HP:0000639	Nystagmus	2	MYO9A CL E G H	4649	7608	OMIM:618198	Myasthenic syndrome, congenital, 24, presynaptic	.
HP:0000496	HP:0000486	Strabismus	2	MYO9A CL E G H	4649	7608	ORPHA:98914	Presynaptic congenital myasthenic syndromes
HP:0000496	HP:0000602	Ophthalmoplegia	2	MYO9A CL E G H	4649	7608	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent
HP:0000496	HP:0000639	Nystagmus	2	MYO9A CL E G H	4649	7608	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040284 - Very rare
HP:0000496	HP:0000486	Strabismus	2	MYOD1 CL E G H	4654	7611	OMIM:618975	MYOPATHY, CONGENITAL, WITH DIAPHRAGMATIC DEFECTS, RESPIRATORY INSUFFICIENCY, AND DYSMORPHIC FACIES; MYODRIF
HP:0000496	HP:0000571	Hypometric saccades	2	MYORG CL E G H	57462	19918	OMIM:618317	Basal ganglia calcification, idiopathic, 7, autosomal recessive	.
HP:0000496	HP:0000639	Nystagmus	2	NAA10 CL E G H	8260	18704	ORPHA:568	Microphthalmia, Lenz type	HP:0040283 - Occasional		23
HP:0000496	HP:0000639	Nystagmus	2	NADK2 CL E G H	133686	26404	OMIM:616034	2,4-Dienoyl-Coa reductase deficiency	.		14
HP:0000496	HP:0000639	Nystagmus	2	NADK2 CL E G H	133686	26404	ORPHA:431361	Progressive encephalopathy with leukodystrophy due to DECR deficiency	HP:0040282 - Frequent		14
HP:0000496	HP:0000486	Strabismus	2	NAGA CL E G H	4668	7631	ORPHA:79279	Alpha-N-acetylgalactosaminidase deficiency type 1	HP:0040282 - Frequent		47
HP:0000496	HP:0000639	Nystagmus	2	NAGA CL E G H	4668	7631	ORPHA:79279	Alpha-N-acetylgalactosaminidase deficiency type 1	HP:0040282 - Frequent		47
HP:0000496	HP:0000486	Strabismus	2	NAGA CL E G H	4668	7631	ORPHA:79281	Alpha-N-acetylgalactosaminidase deficiency type 3	HP:0040281 - Very frequent		47
HP:0000496	HP:0000486	Strabismus	2	NAGA CL E G H	4668	7631	OMIM:609241	Schindler disease, type I	.		47
HP:0000496	HP:0000639	Nystagmus	2	NAGA CL E G H	4668	7631	OMIM:609241	Schindler disease, type I	.		47
HP:0000496	HP:0000486	Strabismus	2	NALCN CL E G H	259232	19082	OMIM:616266	Congenital contractures of the limbs and face, hypotonia, and developmental delay			48
HP:0000496	HP:0000486	Strabismus	2	NALCN CL E G H	259232	19082	ORPHA:2053	Freeman-Sheldon syndrome	HP:0040282 - Frequent		48
HP:0000496	HP:0000486	Strabismus	2	NALCN CL E G H	259232	19082	OMIM:615419	Hypotonia, infantile, with psychomotor retardation and characteristic facies 1	.		48
HP:0000496	HP:0000639	Nystagmus	2	NALCN CL E G H	259232	19082	OMIM:615419	Hypotonia, infantile, with psychomotor retardation and characteristic facies 1	.		48
HP:0000496	HP:0000486	Strabismus	2	NALCN CL E G H	259232	19082	ORPHA:371364	Hypotonia-speech impairment-severe cognitive delay syndrome	HP:0040281 - Very frequent		48
HP:0000496	HP:0000639	Nystagmus	2	NALCN CL E G H	259232	19082	ORPHA:371364	Hypotonia-speech impairment-severe cognitive delay syndrome	HP:0040283 - Occasional		48
HP:0000496	HP:0000486	Strabismus	2	NANS CL E G H	54187	19237	OMIM:610442	Spondyloepimetaphyseal dysplasia, Genevieve type	HP:0040283 - Occasional		8
HP:0000496	HP:0000639	Nystagmus	2	NANS CL E G H	54187	19237	OMIM:610442	Spondyloepimetaphyseal dysplasia, Genevieve type	.		8
HP:0000496	HP:0000639	Nystagmus	2	NARS2 CL E G H	79731	26274	OMIM:616239	Combined oxidative phosphorylation deficiency 24	.		34
HP:0000496	HP:0000602	Ophthalmoplegia	2	NAXD CL E G H	55739	25576	OMIM:618321	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2	HP:0040284 - Very rare
HP:0000496	HP:0000486	Strabismus	2	NAXE CL E G H	128240	18453	OMIM:617186	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1	.		9
HP:0000496	HP:0000605	Supranuclear gaze palsy	2	NAXE CL E G H	128240	18453	OMIM:617186	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1			9
HP:0000496	HP:0000639	Nystagmus	2	NAXE CL E G H	128240	18453	OMIM:617186	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1	.		9
HP:0000496	HP:0000486	Strabismus	2	NBAS CL E G H	51594	15625	OMIM:614800	Short stature, optic nerve atrophy, and pelger-huet anomaly	HP:0040283 - Occasional		25
HP:0000496	HP:0000486	Strabismus	2	NCAPG2 CL E G H	54892	21904	OMIM:618460	Khan-Khan-Katsanis syndrome	.		2
HP:0000496	HP:0000639	Nystagmus	2	NCAPG2 CL E G H	54892	21904	OMIM:618460	Khan-Khan-Katsanis syndrome	.		2
HP:0000496	HP:0000486	Strabismus	2	NCDN CL E G H	23154	17597	OMIM:619373	NEURODEVELOPMENTAL DISORDER WITH INFANTILE EPILEPTIC SPASMS; NEDIES
HP:0000496	HP:0000486	Strabismus	2	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome	HP:0040282 - Frequent		13
HP:0000496	HP:0000639	Nystagmus	2	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome			13
HP:0000496	HP:0000486	Strabismus	2	ND1 CL E G H	4535	7455	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent
HP:0000496	HP:0000639	Nystagmus	2	ND1 CL E G H	4535	7455	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent
HP:0000496	HP:0007704	Paroxysmal involuntary eye movements	2	ND1 CL E G H	4535	7455	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent
HP:0000496	HP:0000602	Ophthalmoplegia	2	ND1 CL E G H	4535	7455	ORPHA:550	MELAS
HP:0000496	HP:0000639	Nystagmus	2	ND1 CL E G H	4535	7455	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0000496	HP:0000602	Ophthalmoplegia	2	ND1 CL E G H	4535	7455	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0000496	HP:0000486	Strabismus	2	ND2 CL E G H	4536	7456	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent
HP:0000496	HP:0000639	Nystagmus	2	ND2 CL E G H	4536	7456	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent
HP:0000496	HP:0007704	Paroxysmal involuntary eye movements	2	ND2 CL E G H	4536	7456	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent
HP:0000496	HP:0000639	Nystagmus	2	ND2 CL E G H	4536	7456	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0000496	HP:0000486	Strabismus	2	ND3 CL E G H	4537	7458	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent
HP:0000496	HP:0000639	Nystagmus	2	ND3 CL E G H	4537	7458	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent
HP:0000496	HP:0007704	Paroxysmal involuntary eye movements	2	ND3 CL E G H	4537	7458	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent
HP:0000496	HP:0000639	Nystagmus	2	ND3 CL E G H	4537	7458	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0000496	HP:0000602	Ophthalmoplegia	2	ND4 CL E G H	4538	7459	ORPHA:550	MELAS
HP:0000496	HP:0000639	Nystagmus	2	ND4 CL E G H	4538	7459	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0000496	HP:0000602	Ophthalmoplegia	2	ND5 CL E G H	4540	7461	ORPHA:550	MELAS
HP:0000496	HP:0000639	Nystagmus	2	ND5 CL E G H	4540	7461	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0000496	HP:0000602	Ophthalmoplegia	2	ND5 CL E G H	4540	7461	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0000496	HP:0000602	Ophthalmoplegia	2	ND6 CL E G H	4541	7462	ORPHA:550	MELAS
HP:0000496	HP:0000639	Nystagmus	2	ND6 CL E G H	4541	7462	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0000496	HP:0000602	Ophthalmoplegia	2	ND6 CL E G H	4541	7462	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0000496	HP:0000486	Strabismus	2	NDN CL E G H	4692	7675	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	HP:0040282 - Frequent
HP:0000496	HP:0000486	Strabismus	2	NDN CL E G H	4692	7675	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040282 - Frequent
HP:0000496	HP:0000486	Strabismus	2	NDN CL E G H	4692	7675	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040282 - Frequent
HP:0000496	HP:0000639	Nystagmus	2	NDNF CL E G H	79625	26256	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional
HP:0000496	HP:0000486	Strabismus	2	NDP CL E G H	4693	7678	ORPHA:190	Coats disease	HP:0040281 - Very frequent		39
HP:0000496	HP:0000639	Nystagmus	2	NDP CL E G H	4693	7678	OMIM:305390	Exudative vitreoretinopathy 2, X-linked	HP:0040283 - Occasional		39
HP:0000496	HP:0000639	Nystagmus	2	NDP CL E G H	4693	7678	ORPHA:649	Norrie disease	HP:0040282 - Frequent		39
HP:0000496	HP:0000486	Strabismus	2	NDP CL E G H	4693	7678	ORPHA:91495	Persistent hyperplastic primary vitreous			39
HP:0000496	HP:0000486	Strabismus	2	NDST1 CL E G H	3340	7680	OMIM:616116	Mental retardation, autosomal recessive 46			27
HP:0000496	HP:0000639	Nystagmus	2	NDST1 CL E G H	3340	7680	OMIM:616116	Mental retardation, autosomal recessive 46			27
HP:0000496	HP:0000486	Strabismus	2	NDUFA1 CL E G H	4694	7683	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		7
HP:0000496	HP:0000639	Nystagmus	2	NDUFA1 CL E G H	4694	7683	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		7
HP:0000496	HP:0007704	Paroxysmal involuntary eye movements	2	NDUFA1 CL E G H	4694	7683	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		7
HP:0000496	HP:0000639	Nystagmus	2	NDUFA1 CL E G H	4694	7683	OMIM:301020	Mitochondrial complex I deficiency, nuclear type 12	.		7
HP:0000496	HP:0000486	Strabismus	2	NDUFA10 CL E G H	4705	7684	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		91
HP:0000496	HP:0000602	Ophthalmoplegia	2	NDUFA10 CL E G H	4705	7684	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		91
HP:0000496	HP:0000639	Nystagmus	2	NDUFA10 CL E G H	4705	7684	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		91
HP:0000496	HP:0000486	Strabismus	2	NDUFA11 CL E G H	126328	20371	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		32
HP:0000496	HP:0000639	Nystagmus	2	NDUFA11 CL E G H	126328	20371	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		32
HP:0000496	HP:0007704	Paroxysmal involuntary eye movements	2	NDUFA11 CL E G H	126328	20371	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		32
HP:0000496	HP:0000639	Nystagmus	2	NDUFA11 CL E G H	126328	20371	OMIM:618236	Mitochondrial complex I deficiency, nuclear type 14	.		32
HP:0000496	HP:0000486	Strabismus	2	NDUFA12 CL E G H	55967	23987	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		7
HP:0000496	HP:0000602	Ophthalmoplegia	2	NDUFA12 CL E G H	55967	23987	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		7
HP:0000496	HP:0000639	Nystagmus	2	NDUFA12 CL E G H	55967	23987	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		7
HP:0000496	HP:0000486	Strabismus	2	NDUFA13 CL E G H	51079	17194	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		3
HP:0000496	HP:0000602	Ophthalmoplegia	2	NDUFA13 CL E G H	51079	17194	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		3
HP:0000496	HP:0000639	Nystagmus	2	NDUFA13 CL E G H	51079	17194	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		3
HP:0000496	HP:0000486	Strabismus	2	NDUFA2 CL E G H	4695	7685	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		19
HP:0000496	HP:0000602	Ophthalmoplegia	2	NDUFA2 CL E G H	4695	7685	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		19
HP:0000496	HP:0000639	Nystagmus	2	NDUFA2 CL E G H	4695	7685	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		19
HP:0000496	HP:0000486	Strabismus	2	NDUFA4 CL E G H	4697	7687	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		4
HP:0000496	HP:0000602	Ophthalmoplegia	2	NDUFA4 CL E G H	4697	7687	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		4
HP:0000496	HP:0000639	Nystagmus	2	NDUFA4 CL E G H	4697	7687	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		4
HP:0000496	HP:0000486	Strabismus	2	NDUFA6 CL E G H	4700	7690	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		1
HP:0000496	HP:0000639	Nystagmus	2	NDUFA6 CL E G H	4700	7690	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		1
HP:0000496	HP:0007704	Paroxysmal involuntary eye movements	2	NDUFA6 CL E G H	4700	7690	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		1
HP:0000496	HP:0000486	Strabismus	2	NDUFA9 CL E G H	4704	7693	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		27
HP:0000496	HP:0000602	Ophthalmoplegia	2	NDUFA9 CL E G H	4704	7693	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		27
HP:0000496	HP:0000639	Nystagmus	2	NDUFA9 CL E G H	4704	7693	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		27
HP:0000496	HP:0000486	Strabismus	2	NDUFAF1 CL E G H	51103	18828	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		40
HP:0000496	HP:0000639	Nystagmus	2	NDUFAF1 CL E G H	51103	18828	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		40
HP:0000496	HP:0007704	Paroxysmal involuntary eye movements	2	NDUFAF1 CL E G H	51103	18828	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		40
HP:0000496	HP:0000486	Strabismus	2	NDUFAF2 CL E G H	91942	28086	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		26
HP:0000496	HP:0000639	Nystagmus	2	NDUFAF2 CL E G H	91942	28086	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		26
HP:0000496	HP:0007704	Paroxysmal involuntary eye movements	2	NDUFAF2 CL E G H	91942	28086	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		26
HP:0000496	HP:0000486	Strabismus	2	NDUFAF2 CL E G H	91942	28086	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		26
HP:0000496	HP:0000602	Ophthalmoplegia	2	NDUFAF2 CL E G H	91942	28086	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		26
HP:0000496	HP:0000639	Nystagmus	2	NDUFAF2 CL E G H	91942	28086	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		26
HP:0000496	HP:0000602	Ophthalmoplegia	2	NDUFAF2 CL E G H	91942	28086	OMIM:618233	Mitochondrial complex I deficiency, nuclear type 10			26
HP:0000496	HP:0000639	Nystagmus	2	NDUFAF2 CL E G H	91942	28086	OMIM:618233	Mitochondrial complex I deficiency, nuclear type 10	HP:0040284 - Very rare		26
HP:0000496	HP:0000486	Strabismus	2	NDUFAF3 CL E G H	25915	29918	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		31
HP:0000496	HP:0000639	Nystagmus	2	NDUFAF3 CL E G H	25915	29918	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		31
HP:0000496	HP:0007704	Paroxysmal involuntary eye movements	2	NDUFAF3 CL E G H	25915	29918	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		31
HP:0000496	HP:0000602	Ophthalmoplegia	2	NDUFAF3 CL E G H	25915	29918	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040283 - Occasional		31
HP:0000496	HP:0000639	Nystagmus	2	NDUFAF3 CL E G H	25915	29918	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040282 - Frequent		31
HP:0000496	HP:0000486	Strabismus	2	NDUFAF4 CL E G H	29078	21034	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		50
HP:0000496	HP:0000639	Nystagmus	2	NDUFAF4 CL E G H	29078	21034	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		50
HP:0000496	HP:0007704	Paroxysmal involuntary eye movements	2	NDUFAF4 CL E G H	29078	21034	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		50
HP:0000496	HP:0000639	Nystagmus	2	NDUFAF4 CL E G H	29078	21034	OMIM:618237	Mitochondrial complex I deficiency, nuclear type 15	.		50
HP:0000496	HP:0000486	Strabismus	2	NDUFAF5 CL E G H	79133	15899	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		34
HP:0000496	HP:0000639	Nystagmus	2	NDUFAF5 CL E G H	79133	15899	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		34
HP:0000496	HP:0007704	Paroxysmal involuntary eye movements	2	NDUFAF5 CL E G H	79133	15899	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		34
HP:0000496	HP:0000486	Strabismus	2	NDUFAF5 CL E G H	79133	15899	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		34
HP:0000496	HP:0000602	Ophthalmoplegia	2	NDUFAF5 CL E G H	79133	15899	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		34
HP:0000496	HP:0000639	Nystagmus	2	NDUFAF5 CL E G H	79133	15899	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		34
HP:0000496	HP:0000639	Nystagmus	2	NDUFAF5 CL E G H	79133	15899	OMIM:618238	Mitochondrial complex I deficiency, nuclear type 16	.		34
HP:0000496	HP:0000486	Strabismus	2	NDUFAF6 CL E G H	137682	28625	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		39
HP:0000496	HP:0000602	Ophthalmoplegia	2	NDUFAF6 CL E G H	137682	28625	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		39
HP:0000496	HP:0000639	Nystagmus	2	NDUFAF6 CL E G H	137682	28625	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		39
HP:0000496	HP:0000486	Strabismus	2	NDUFAF8 CL E G H	284184	33551	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent
HP:0000496	HP:0000639	Nystagmus	2	NDUFAF8 CL E G H	284184	33551	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent
HP:0000496	HP:0007704	Paroxysmal involuntary eye movements	2	NDUFAF8 CL E G H	284184	33551	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent
HP:0000496	HP:0000486	Strabismus	2	NDUFB10 CL E G H	4716	7696	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent
HP:0000496	HP:0000639	Nystagmus	2	NDUFB10 CL E G H	4716	7696	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent
HP:0000496	HP:0007704	Paroxysmal involuntary eye movements	2	NDUFB10 CL E G H	4716	7696	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent
HP:0000496	HP:0000486	Strabismus	2	NDUFB11 CL E G H	54539	20372	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		3
HP:0000496	HP:0000639	Nystagmus	2	NDUFB11 CL E G H	54539	20372	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		3
HP:0000496	HP:0007704	Paroxysmal involuntary eye movements	2	NDUFB11 CL E G H	54539	20372	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		3
HP:0000496	HP:0000486	Strabismus	2	NDUFB11 CL E G H	54539	20372	OMIM:300952	Linear skin defects with multiple congenital anomalies 3	.		3
HP:0000496	HP:0000639	Nystagmus	2	NDUFB11 CL E G H	54539	20372	OMIM:300952	Linear skin defects with multiple congenital anomalies 3	.		3
HP:0000496	HP:0000486	Strabismus	2	NDUFB3 CL E G H	4709	7698	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		9
HP:0000496	HP:0000639	Nystagmus	2	NDUFB3 CL E G H	4709	7698	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		9
HP:0000496	HP:0007704	Paroxysmal involuntary eye movements	2	NDUFB3 CL E G H	4709	7698	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		9
HP:0000496	HP:0000602	Ophthalmoplegia	2	NDUFB8 CL E G H	4714	7703	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040283 - Occasional
HP:0000496	HP:0000639	Nystagmus	2	NDUFB8 CL E G H	4714	7703	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040282 - Frequent
HP:0000496	HP:0000486	Strabismus	2	NDUFB9 CL E G H	4715	7704	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		16
HP:0000496	HP:0000639	Nystagmus	2	NDUFB9 CL E G H	4715	7704	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		16
HP:0000496	HP:0007704	Paroxysmal involuntary eye movements	2	NDUFB9 CL E G H	4715	7704	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		16
HP:0000496	HP:0000486	Strabismus	2	NDUFS1 CL E G H	4719	7707	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		81
HP:0000496	HP:0000639	Nystagmus	2	NDUFS1 CL E G H	4719	7707	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		81
HP:0000496	HP:0007704	Paroxysmal involuntary eye movements	2	NDUFS1 CL E G H	4719	7707	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		81
HP:0000496	HP:0000486	Strabismus	2	NDUFS1 CL E G H	4719	7707	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		81
HP:0000496	HP:0000602	Ophthalmoplegia	2	NDUFS1 CL E G H	4719	7707	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		81
HP:0000496	HP:0000639	Nystagmus	2	NDUFS1 CL E G H	4719	7707	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		81
HP:0000496	HP:0000486	Strabismus	2	NDUFS1 CL E G H	4719	7707	OMIM:618226	Mitochondrial complex I deficiency, nuclear type 5	.		81
HP:0000496	HP:0000602	Ophthalmoplegia	2	NDUFS1 CL E G H	4719	7707	OMIM:618226	Mitochondrial complex I deficiency, nuclear type 5	.		81
HP:0000496	HP:0000639	Nystagmus	2	NDUFS1 CL E G H	4719	7707	OMIM:618226	Mitochondrial complex I deficiency, nuclear type 5	.		81
HP:0000496	HP:0000486	Strabismus	2	NDUFS2 CL E G H	4720	7708	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		65
HP:0000496	HP:0000639	Nystagmus	2	NDUFS2 CL E G H	4720	7708	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		65
HP:0000496	HP:0007704	Paroxysmal involuntary eye movements	2	NDUFS2 CL E G H	4720	7708	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		65
HP:0000496	HP:0000602	Ophthalmoplegia	2	NDUFS2 CL E G H	4720	7708	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040283 - Occasional		65
HP:0000496	HP:0000639	Nystagmus	2	NDUFS2 CL E G H	4720	7708	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040282 - Frequent		65
HP:0000496	HP:0000486	Strabismus	2	NDUFS2 CL E G H	4720	7708	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		65
HP:0000496	HP:0000602	Ophthalmoplegia	2	NDUFS2 CL E G H	4720	7708	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		65
HP:0000496	HP:0000639	Nystagmus	2	NDUFS2 CL E G H	4720	7708	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		65
HP:0000496	HP:0000639	Nystagmus	2	NDUFS2 CL E G H	4720	7708	OMIM:618228	Mitochondrial complex I deficiency, nuclear type 6	.		65
HP:0000496	HP:0000486	Strabismus	2	NDUFS3 CL E G H	4722	7710	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		22
HP:0000496	HP:0000639	Nystagmus	2	NDUFS3 CL E G H	4722	7710	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		22
HP:0000496	HP:0007704	Paroxysmal involuntary eye movements	2	NDUFS3 CL E G H	4722	7710	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		22
HP:0000496	HP:0000486	Strabismus	2	NDUFS3 CL E G H	4722	7710	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		22
HP:0000496	HP:0000602	Ophthalmoplegia	2	NDUFS3 CL E G H	4722	7710	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		22
HP:0000496	HP:0000639	Nystagmus	2	NDUFS3 CL E G H	4722	7710	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		22
HP:0000496	HP:0000486	Strabismus	2	NDUFS4 CL E G H	4724	7711	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		27
HP:0000496	HP:0000639	Nystagmus	2	NDUFS4 CL E G H	4724	7711	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		27
HP:0000496	HP:0007704	Paroxysmal involuntary eye movements	2	NDUFS4 CL E G H	4724	7711	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		27
HP:0000496	HP:0000486	Strabismus	2	NDUFS4 CL E G H	4724	7711	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		27
HP:0000496	HP:0000602	Ophthalmoplegia	2	NDUFS4 CL E G H	4724	7711	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		27
HP:0000496	HP:0000639	Nystagmus	2	NDUFS4 CL E G H	4724	7711	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		27
HP:0000496	HP:0000486	Strabismus	2	NDUFS4 CL E G H	4724	7711	OMIM:252010	Mitochondrial complex I deficiency, nuclear type 1	.		27
HP:0000496	HP:0000639	Nystagmus	2	NDUFS4 CL E G H	4724	7711	OMIM:252010	Mitochondrial complex I deficiency, nuclear type 1	.		27
HP:0000496	HP:0000486	Strabismus	2	NDUFS6 CL E G H	4726	7713	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		21
HP:0000496	HP:0000639	Nystagmus	2	NDUFS6 CL E G H	4726	7713	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		21
HP:0000496	HP:0007704	Paroxysmal involuntary eye movements	2	NDUFS6 CL E G H	4726	7713	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		21
HP:0000496	HP:0000639	Nystagmus	2	NDUFS6 CL E G H	4726	7713	OMIM:618232	Mitochondrial complex I deficiency, nuclear type 9	.		21
HP:0000496	HP:0000486	Strabismus	2	NDUFS7 CL E G H	374291	7714	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		38
HP:0000496	HP:0000639	Nystagmus	2	NDUFS7 CL E G H	374291	7714	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		38
HP:0000496	HP:0007704	Paroxysmal involuntary eye movements	2	NDUFS7 CL E G H	374291	7714	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		38
HP:0000496	HP:0000486	Strabismus	2	NDUFS7 CL E G H	374291	7714	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		38
HP:0000496	HP:0000602	Ophthalmoplegia	2	NDUFS7 CL E G H	374291	7714	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		38
HP:0000496	HP:0000639	Nystagmus	2	NDUFS7 CL E G H	374291	7714	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		38
HP:0000496	HP:0000486	Strabismus	2	NDUFS8 CL E G H	4728	7715	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		42
HP:0000496	HP:0000639	Nystagmus	2	NDUFS8 CL E G H	4728	7715	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		42
HP:0000496	HP:0007704	Paroxysmal involuntary eye movements	2	NDUFS8 CL E G H	4728	7715	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		42
HP:0000496	HP:0000486	Strabismus	2	NDUFS8 CL E G H	4728	7715	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		42
HP:0000496	HP:0000602	Ophthalmoplegia	2	NDUFS8 CL E G H	4728	7715	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		42
HP:0000496	HP:0000639	Nystagmus	2	NDUFS8 CL E G H	4728	7715	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		42
HP:0000496	HP:0000639	Nystagmus	2	NDUFS8 CL E G H	4728	7715	OMIM:618222	Mitochondrial complex I deficiency, nuclear type 2	.		42
HP:0000496	HP:0000486	Strabismus	2	NDUFV1 CL E G H	4723	7716	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		74
HP:0000496	HP:0000639	Nystagmus	2	NDUFV1 CL E G H	4723	7716	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		74
HP:0000496	HP:0007704	Paroxysmal involuntary eye movements	2	NDUFV1 CL E G H	4723	7716	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		74
HP:0000496	HP:0000486	Strabismus	2	NDUFV1 CL E G H	4723	7716	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		74
HP:0000496	HP:0000602	Ophthalmoplegia	2	NDUFV1 CL E G H	4723	7716	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		74
HP:0000496	HP:0000639	Nystagmus	2	NDUFV1 CL E G H	4723	7716	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		74
HP:0000496	HP:0000486	Strabismus	2	NDUFV1 CL E G H	4723	7716	OMIM:618225	Mitochondrial complex I deficiency, nuclear type 4	.		74
HP:0000496	HP:0000602	Ophthalmoplegia	2	NDUFV1 CL E G H	4723	7716	OMIM:618225	Mitochondrial complex I deficiency, nuclear type 4	.		74
HP:0000496	HP:0000486	Strabismus	2	NDUFV2 CL E G H	4729	7717	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		27
HP:0000496	HP:0000639	Nystagmus	2	NDUFV2 CL E G H	4729	7717	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		27
HP:0000496	HP:0007704	Paroxysmal involuntary eye movements	2	NDUFV2 CL E G H	4729	7717	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		27
HP:0000496	HP:0000486	Strabismus	2	NDUFV2 CL E G H	4729	7717	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		27
HP:0000496	HP:0000602	Ophthalmoplegia	2	NDUFV2 CL E G H	4729	7717	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		27
HP:0000496	HP:0000639	Nystagmus	2	NDUFV2 CL E G H	4729	7717	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		27
HP:0000496	HP:0000639	Nystagmus	2	NDUFV2 CL E G H	4729	7717	OMIM:618229	Mitochondrial complex I deficiency, nuclear type 7	.		27
HP:0000496	HP:0000602	Ophthalmoplegia	2	NEB CL E G H	4703	7720	ORPHA:171433	Intermediate nemaline myopathy	HP:0040283 - Occasional		745
HP:0000496	HP:0000602	Ophthalmoplegia	2	NEB CL E G H	4703	7720	ORPHA:171430	Severe congenital nemaline myopathy	HP:0040283 - Occasional		745
HP:0000496	HP:0000639	Nystagmus	2	NECAP1 CL E G H	25977	24539	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		1
HP:0000496	HP:0000486	Strabismus	2	NEDD4L CL E G H	23327	7728	OMIM:617201	Periventricular nodular heterotopia 7	.		30
HP:0000496	HP:0000639	Nystagmus	2	NEFL CL E G H	4747	7739	OMIM:617882	Charcot-Marie-Tooth disease, dominant intermediate G	.		118
HP:0000496	HP:0000602	Ophthalmoplegia	2	NEK2 CL E G H	4751	7745	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		5
HP:0000496	HP:0000639	Nystagmus	2	NEK2 CL E G H	4751	7745	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		5
HP:0000496	HP:0000605	Supranuclear gaze palsy	2	NEK9 CL E G H	91754	18591	OMIM:614262	Arthrogryposis, perthes disease, and upward gaze palsy			9
HP:0000496	HP:0000486	Strabismus	2	NELFA CL E G H	7469	12768	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040283 - Occasional
HP:0000496	HP:0000639	Nystagmus	2	NELFA CL E G H	7469	12768	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040283 - Occasional
HP:0000496	HP:0000486	Strabismus	2	NEU1 CL E G H	4758	7758	ORPHA:93400	Congenital sialidosis type 2	HP:0040283 - Occasional		43
HP:0000496	HP:0000639	Nystagmus	2	NEU1 CL E G H	4758	7758	ORPHA:93400	Congenital sialidosis type 2	HP:0040283 - Occasional		43
HP:0000496	HP:0000486	Strabismus	2	NEU1 CL E G H	4758	7758	ORPHA:93399	Juvenile sialidosis type 2	HP:0040283 - Occasional		43
HP:0000496	HP:0000639	Nystagmus	2	NEU1 CL E G H	4758	7758	ORPHA:93399	Juvenile sialidosis type 2	HP:0040283 - Occasional		43
HP:0000496	HP:0000639	Nystagmus	2	NEU1 CL E G H	4758	7758	OMIM:256550	Neuraminidase deficiency	.		43
HP:0000496	HP:0000639	Nystagmus	2	NEU1 CL E G H	4758	7758	ORPHA:812	Sialidosis type 1	HP:0040281 - Very frequent		43
HP:0000496	HP:0000486	Strabismus	2	NEUROD2 CL E G H	4761	7763	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare
HP:0000496	HP:0000486	Strabismus	2	NEUROD2 CL E G H	4761	7763	OMIM:618374	Epileptic encephalopathy, early infantile, 72
HP:0000496	HP:0000486	Strabismus	2	NEXMIF CL E G H	340533	29433	OMIM:300912	Mental retardation, X-linked 98			52
HP:0000496	HP:0000486	Strabismus	2	NEXMIF CL E G H	340533	29433	ORPHA:85277	X-linked intellectual disability, Cantagrel type			52
HP:0000496	HP:0000486	Strabismus	2	NF1 CL E G H	4763	7765	ORPHA:97685	17q11 microdeletion syndrome	HP:0040283 - Occasional		1952
HP:0000496	HP:0000602	Ophthalmoplegia	2	NF2 CL E G H	4771	7773	ORPHA:2495	Meningioma	HP:0040283 - Occasional		220
HP:0000496	HP:0007715	Weak extraocular muscles	2	NF2 CL E G H	4771	7773	ORPHA:2495	Meningioma	HP:0040283 - Occasional		220
HP:0000496	HP:0012246	Oculomotor nerve palsy	2	NF2 CL E G H	4771	7773	ORPHA:2495	Meningioma	HP:0040283 - Occasional		220
HP:0000496	HP:0000639	Nystagmus	2	NFIX CL E G H	4784	7788	ORPHA:447980	19p13.3 microduplication syndrome			40
HP:0000496	HP:0000486	Strabismus	2	NFIX CL E G H	4784	7788	ORPHA:420179	Malan overgrowth syndrome	HP:0040282 - Frequent		40
HP:0000496	HP:0000639	Nystagmus	2	NFIX CL E G H	4784	7788	ORPHA:420179	Malan overgrowth syndrome	HP:0040283 - Occasional		40
HP:0000496	HP:0000486	Strabismus	2	NFIX CL E G H	4784	7788	OMIM:614753	Sotos syndrome 2	.		40
HP:0000496	HP:0000639	Nystagmus	2	NFIX CL E G H	4784	7788	OMIM:614753	Sotos syndrome 2	.		40
HP:0000496	HP:0000486	Strabismus	2	NGLY1 CL E G H	55768	17646	ORPHA:404454	Alacrimia-choreoathetosis-liver dysfunction syndrome			32
HP:0000496	HP:0000486	Strabismus	2	NGLY1 CL E G H	55768	17646	OMIM:615273	Congenital disorder of deglycosylation			32
HP:0000496	HP:0000486	Strabismus	2	NHLRC2 CL E G H	374354	24731	OMIM:618278	Fibrosis, neurodegeneration, and cerebral angiomatosis	.
HP:0000496	HP:0000486	Strabismus	2	NHS CL E G H	4810	7820	ORPHA:627	Nance-Horan syndrome	HP:0040282 - Frequent		88
HP:0000496	HP:0000639	Nystagmus	2	NHS CL E G H	4810	7820	OMIM:302350	Nance-Horan syndrome	.		88
HP:0000496	HP:0000639	Nystagmus	2	NHS CL E G H	4810	7820	ORPHA:627	Nance-Horan syndrome	HP:0040281 - Very frequent		88
HP:0000496	HP:0000486	Strabismus	2	NIPBL CL E G H	25836	28862	ORPHA:199	Cornelia de Lange syndrome	HP:0040283 - Occasional		494
HP:0000496	HP:0000639	Nystagmus	2	NIPBL CL E G H	25836	28862	ORPHA:199	Cornelia de Lange syndrome	HP:0040283 - Occasional		494
HP:0000496	HP:0000486	Strabismus	2	NIPBL CL E G H	25836	28862	OMIM:122470	Cornelia de Lange syndrome 1	.		494
HP:0000496	HP:0000639	Nystagmus	2	NIPBL CL E G H	25836	28862	OMIM:122470	Cornelia de Lange syndrome 1	.		494
HP:0000496	HP:0000486	Strabismus	2	NKX6-2 CL E G H	84504	19321	ORPHA:527497	NKX6-2-related autosomal recessive hypomyelinating leukodystrophy	HP:0040283 - Occasional		2
HP:0000496	HP:0000571	Hypometric saccades	2	NKX6-2 CL E G H	84504	19321	ORPHA:527497	NKX6-2-related autosomal recessive hypomyelinating leukodystrophy	HP:0040281 - Very frequent		2
HP:0000496	HP:0000639	Nystagmus	2	NKX6-2 CL E G H	84504	19321	ORPHA:527497	NKX6-2-related autosomal recessive hypomyelinating leukodystrophy	HP:0040281 - Very frequent		2
HP:0000496	HP:0007704	Paroxysmal involuntary eye movements	2	NKX6-2 CL E G H	84504	19321	ORPHA:527497	NKX6-2-related autosomal recessive hypomyelinating leukodystrophy	HP:0040282 - Frequent		2
HP:0000496	HP:0000571	Hypometric saccades	2	NKX6-2 CL E G H	84504	19321	OMIM:617560	Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy	.		2
HP:0000496	HP:0000639	Nystagmus	2	NKX6-2 CL E G H	84504	19321	OMIM:617560	Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy	.		2
HP:0000496	HP:0000639	Nystagmus	2	NMNAT1 CL E G H	64802	17877	ORPHA:65	Leber congenital amaurosis	HP:0040282 - Frequent		15
HP:0000496	HP:0000639	Nystagmus	2	NMNAT1 CL E G H	64802	17877	OMIM:608553	Leber congenital amaurosis 9	.		15
HP:0000496	HP:0000486	Strabismus	2	NMNAT1 CL E G H	64802	17877	OMIM:619260	SPONDYLOEPIPHYSEAL DYSPLASIA, SENSORINEURAL HEARING LOSS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND LEBER CONGENITAL AMAUROSIS; SHILCA			15
HP:0000496	HP:0000639	Nystagmus	2	NMNAT1 CL E G H	64802	17877	OMIM:619260	SPONDYLOEPIPHYSEAL DYSPLASIA, SENSORINEURAL HEARING LOSS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND LEBER CONGENITAL AMAUROSIS; SHILCA			15
HP:0000496	HP:0000486	Strabismus	2	NODAL CL E G H	4838	7865	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional		45
HP:0000496	HP:0000486	Strabismus	2	NOG CL E G H	9241	7866	OMIM:186500	Multiple synostoses syndrome 1	.		22
HP:0000496	HP:0000486	Strabismus	2	NOG CL E G H	9241	7866	ORPHA:3250	Proximal symphalangism	HP:0040283 - Occasional		22
HP:0000496	HP:0000486	Strabismus	2	NONO CL E G H	4841	7871	ORPHA:466791	Macrocephaly-intellectual disability-left ventricular non compaction syndrome	HP:0040282 - Frequent		10
HP:0000496	HP:0000486	Strabismus	2	NONO CL E G H	4841	7871	OMIM:300967	MENTAL RETARDATION, X-LINKED, SYNDROMIC 34; MRXS34			10
HP:0000496	HP:0000514	Slow saccadic eye movements	2	NOP56 CL E G H	10528	15911	OMIM:614153	Spinocerebellar ataxia 36			9
HP:0000496	HP:0000605	Supranuclear gaze palsy	2	NOP56 CL E G H	10528	15911	OMIM:614153	Spinocerebellar ataxia 36			9
HP:0000496	HP:0000639	Nystagmus	2	NOP56 CL E G H	10528	15911	OMIM:614153	Spinocerebellar ataxia 36			9
HP:0000496	HP:0007772	Impaired smooth pursuit	2	NOP56 CL E G H	10528	15911	OMIM:614153	Spinocerebellar ataxia 36	.		9
HP:0000496	HP:0000514	Slow saccadic eye movements	2	NOP56 CL E G H	10528	15911	ORPHA:276198	Spinocerebellar ataxia type 36	HP:0040282 - Frequent		9
HP:0000496	HP:0000486	Strabismus	2	NOTCH1 CL E G H	4851	7881	ORPHA:974	Adams-Oliver syndrome	HP:0040282 - Frequent		452
HP:0000496	HP:0000602	Ophthalmoplegia	2	NOTCH2NLC CL E G H	100996717	53924	ORPHA:2289	Neuronal intranuclear inclusion disease	HP:0040282 - Frequent
HP:0000496	HP:0000639	Nystagmus	2	NOTCH2NLC CL E G H	100996717	53924	ORPHA:2289	Neuronal intranuclear inclusion disease	HP:0040282 - Frequent
HP:0000496	HP:0000602	Ophthalmoplegia	2	NOTCH2NLC CL E G H	100996717	53924	ORPHA:98897	Oculopharyngodistal myopathy
HP:0000496	HP:0000602	Ophthalmoplegia	2	NOTCH2NLC CL E G H	100996717	53924	OMIM:619473	OCULOPHARYNGODISTAL MYOPATHY 3; OPDM3
HP:0000496	HP:0000486	Strabismus	2	NPAP1 CL E G H	23742	1190	OMIM:176270	Prader-Willi syndrome			1
HP:0000496	HP:0000605	Supranuclear gaze palsy	2	NPC1 CL E G H	4864	7897	OMIM:257220	Niemann-pick disease, type C1			258
HP:0000496	HP:0000605	Supranuclear gaze palsy	2	NPC2 CL E G H	10577	14537	OMIM:607625	Niemann-pick disease, type C2			33
HP:0000496	HP:0000639	Nystagmus	2	NPHP1 CL E G H	4867	7905	ORPHA:110	Bardet-Biedl syndrome	HP:0040282 - Frequent		85
HP:0000496	HP:0000571	Hypometric saccades	2	NPHP1 CL E G H	4867	7905	OMIM:609583	Joubert syndrome 4	.		85
HP:0000496	HP:0000639	Nystagmus	2	NPHP1 CL E G H	4867	7905	OMIM:609583	Joubert syndrome 4	.		85
HP:0000496	HP:0000486	Strabismus	2	NPHP1 CL E G H	4867	7905	ORPHA:220497	Joubert syndrome with renal defect	HP:0040283 - Occasional		85
HP:0000496	HP:0000639	Nystagmus	2	NPHP1 CL E G H	4867	7905	ORPHA:220497	Joubert syndrome with renal defect	HP:0040282 - Frequent		85
HP:0000496	HP:0000639	Nystagmus	2	NPHP4 CL E G H	261734	19104	OMIM:606996	Senior-Loken syndrome 4			220
HP:0000496	HP:0000602	Ophthalmoplegia	2	NR2E3 CL E G H	10002	7974	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		58
HP:0000496	HP:0000639	Nystagmus	2	NR2E3 CL E G H	10002	7974	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		58
HP:0000496	HP:0000486	Strabismus	2	NR2F1 CL E G H	7025	7975	OMIM:615722	Bosch-Boonstra-Schaaf optic atrophy syndrome	.		37
HP:0000496	HP:0000639	Nystagmus	2	NR2F1 CL E G H	7025	7975	OMIM:615722	Bosch-Boonstra-Schaaf optic atrophy syndrome	.		37
HP:0000496	HP:0000486	Strabismus	2	NR2F1 CL E G H	7025	7975	ORPHA:401777	Optic atrophy-intellectual disability syndrome	HP:0040283 - Occasional		37
HP:0000496	HP:0000639	Nystagmus	2	NR2F1 CL E G H	7025	7975	ORPHA:401777	Optic atrophy-intellectual disability syndrome	HP:0040284 - Very rare		37
HP:0000496	HP:0000639	Nystagmus	2	NR4A2 CL E G H	4929	7981	ORPHA:98808	Autosomal dominant dopa-responsive dystonia			27
HP:0000496	HP:0000486	Strabismus	2	NRAS CL E G H	4893	7989	ORPHA:648	Noonan syndrome	HP:0040282 - Frequent		102
HP:0000496	HP:0000639	Nystagmus	2	NRAS CL E G H	4893	7989	ORPHA:648	Noonan syndrome	HP:0040283 - Occasional		102
HP:0000496	HP:0000602	Ophthalmoplegia	2	NRAS CL E G H	4893	7989	OMIM:163200	Schimmelpenning-Feuerstein-Mims syndrome	HP:0040283 - Occasional		102
HP:0000496	HP:0000486	Strabismus	2	NRCAM CL E G H	4897	7994	OMIM:619833				2
HP:0000496	HP:0000602	Ophthalmoplegia	2	NRL CL E G H	4901	8002	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		30
HP:0000496	HP:0000639	Nystagmus	2	NRL CL E G H	4901	8002	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		30
HP:0000496	HP:0000486	Strabismus	2	NRXN1 CL E G H	9378	8008	OMIM:614325	Pitt-Hopkins-Like syndrome 2	.		470
HP:0000496	HP:0000486	Strabismus	2	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome	HP:0040284 - Very rare		544
HP:0000496	HP:0000639	Nystagmus	2	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome	HP:0040284 - Very rare		544
HP:0000496	HP:0000486	Strabismus	2	NSD1 CL E G H	64324	14234	OMIM:117550	Sotos syndrome 1			544
HP:0000496	HP:0000639	Nystagmus	2	NSD1 CL E G H	64324	14234	OMIM:117550	Sotos syndrome 1			544
HP:0000496	HP:0000486	Strabismus	2	NSD2 CL E G H	7468	12766	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040283 - Occasional		118
HP:0000496	HP:0000486	Strabismus	2	NSD2 CL E G H	7468	12766	OMIM:194190	Wolf-Hirschhorn syndrome			118
HP:0000496	HP:0000639	Nystagmus	2	NSD2 CL E G H	7468	12766	OMIM:194190	Wolf-Hirschhorn syndrome			118
HP:0000496	HP:0000639	Nystagmus	2	NSD2 CL E G H	7468	12766	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040283 - Occasional		118
HP:0000496	HP:0000486	Strabismus	2	NSDHL CL E G H	50814	13398	ORPHA:251383	CK syndrome	HP:0040281 - Very frequent		34
HP:0000496	HP:0000486	Strabismus	2	NSDHL CL E G H	50814	13398	OMIM:300831	Ck syndrome	.		34
HP:0000496	HP:0000486	Strabismus	2	NSUN2 CL E G H	54888	25994	ORPHA:235	Dubowitz syndrome	HP:0040283 - Occasional		84
HP:0000496	HP:0000639	Nystagmus	2	NSUN2 CL E G H	54888	25994	ORPHA:235	Dubowitz syndrome	HP:0040283 - Occasional		84
HP:0000496	HP:0000486	Strabismus	2	NSUN2 CL E G H	54888	25994	OMIM:611091	Mental retardation, autosomal recessive 5	.		84
HP:0000496	HP:0000639	Nystagmus	2	NSUN2 CL E G H	54888	25994	OMIM:611091	Mental retardation, autosomal recessive 5			84
HP:0000496	HP:0000602	Ophthalmoplegia	2	NSUN3 CL E G H	63899	26208	OMIM:619012	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 48; COXPD48
HP:0000496	HP:0000639	Nystagmus	2	NSUN3 CL E G H	63899	26208	OMIM:619012	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 48; COXPD48
HP:0000496	HP:0000639	Nystagmus	2	NT5C2 CL E G H	22978	8022	ORPHA:320396	Autosomal recessive spastic paraplegia type 45			15
HP:0000496	HP:0000639	Nystagmus	2	NT5C2 CL E G H	22978	8022	OMIM:613162	Spastic paraplegia 45, autosomal recessive	.		15
HP:0000496	HP:0000486	Strabismus	2	NTNG2 CL E G H	84628	14288	OMIM:618718	NEURODEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES, ABSENT SPEECH, AND HYPOTONIA; NEDBASH
HP:0000496	HP:0000639	Nystagmus	2	NTNG2 CL E G H	84628	14288	OMIM:618718	NEURODEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES, ABSENT SPEECH, AND HYPOTONIA; NEDBASH
HP:0000496	HP:0000639	Nystagmus	2	NTRK2 CL E G H	4915	8032	OMIM:617830	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 58; EIEE58			8
HP:0000496	HP:0000639	Nystagmus	2	NTRK2 CL E G H	4915	8032	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		8
HP:0000496	HP:0000486	Strabismus	2	NUBPL CL E G H	80224	20278	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		89
HP:0000496	HP:0000639	Nystagmus	2	NUBPL CL E G H	80224	20278	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		89
HP:0000496	HP:0007704	Paroxysmal involuntary eye movements	2	NUBPL CL E G H	80224	20278	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		89
HP:0000496	HP:0000486	Strabismus	2	NUBPL CL E G H	80224	20278	OMIM:618242	Mitochondrial complex I deficiency, nuclear type 21	.		89
HP:0000496	HP:0000639	Nystagmus	2	NUBPL CL E G H	80224	20278	OMIM:618242	Mitochondrial complex I deficiency, nuclear type 21	.		89
HP:0000496	HP:0000486	Strabismus	2	NUP133 CL E G H	55746	18016	OMIM:618349	Galloway-Mowat syndrome 8	.		1
HP:0000496	HP:0000639	Nystagmus	2	NUP62 CL E G H	23636	8066	ORPHA:225154	Familial infantile bilateral striatal necrosis			7
HP:0000496	HP:0000639	Nystagmus	2	NUP62 CL E G H	23636	8066	OMIM:271930	Striatonigral degeneration, infantile			7
HP:0000496	HP:0000639	Nystagmus	2	NUS1 CL E G H	116150	21042	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		1
HP:0000496	HP:0000602	Ophthalmoplegia	2	NUTM2B-AS1 CL E G H	101060691	51204	OMIM:618637	OCULOPHARYNGEAL MYOPATHY WITH LEUKOENCEPHALOPATHY 1; OPML1
HP:0000496	HP:0000486	Strabismus	2	NXN CL E G H	64359	18008	ORPHA:1507	Autosomal recessive Robinow syndrome	HP:0040283 - Occasional		2
HP:0000496	HP:0000486	Strabismus	2	NYX CL E G H	60506	8082	ORPHA:215	Congenital stationary night blindness	HP:0040282 - Frequent		42
HP:0000496	HP:0000639	Nystagmus	2	NYX CL E G H	60506	8082	ORPHA:215	Congenital stationary night blindness	HP:0040282 - Frequent		42
HP:0000496	HP:0000486	Strabismus	2	OCA2 CL E G H	4948	8101	OMIM:203200	Albinism, oculocutaneous, type II	.		121
HP:0000496	HP:0000639	Nystagmus	2	OCA2 CL E G H	4948	8101	OMIM:203200	Albinism, oculocutaneous, type II	.		121
HP:0000496	HP:0000486	Strabismus	2	OCA2 CL E G H	4948	8101	ORPHA:98794	Angelman syndrome due to maternal 15q11q13 deletion	HP:0040282 - Frequent		121
HP:0000496	HP:0000639	Nystagmus	2	OCA2 CL E G H	4948	8101	ORPHA:79432	Oculocutaneous albinism type 2	HP:0040282 - Frequent		121
HP:0000496	HP:0000486	Strabismus	2	OCA2 CL E G H	4948	8101	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	HP:0040282 - Frequent		121
HP:0000496	HP:0000486	Strabismus	2	OCA2 CL E G H	4948	8101	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040282 - Frequent		121
HP:0000496	HP:0000486	Strabismus	2	OCA2 CL E G H	4948	8101	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040282 - Frequent		121
HP:0000496	HP:0000639	Nystagmus	2	OCLN CL E G H	100506658	8104	OMIM:251290	Band-Like calcification with simplified gyration and polymicrogyria	.		23
HP:0000496	HP:0000486	Strabismus	2	OCRL CL E G H	4952	8108	ORPHA:534	Oculocerebrorenal syndrome of Lowe	HP:0040283 - Occasional		88
HP:0000496	HP:0000639	Nystagmus	2	OCRL CL E G H	4952	8108	ORPHA:534	Oculocerebrorenal syndrome of Lowe	HP:0040281 - Very frequent		88
HP:0000496	HP:0000486	Strabismus	2	OFD1 CL E G H	8481	2567	ORPHA:2754	Orofaciodigital syndrome type 6			201
HP:0000496	HP:0000639	Nystagmus	2	OFD1 CL E G H	8481	2567	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040282 - Frequent		201
HP:0000496	HP:0000602	Ophthalmoplegia	2	OFD1 CL E G H	8481	2567	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		201
HP:0000496	HP:0000639	Nystagmus	2	OFD1 CL E G H	8481	2567	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		201
HP:0000496	HP:0025549	Eccentric visual fixation	2	OFD1 CL E G H	8481	2567	OMIM:300424	Retinitis pigmentosa 23			201
HP:0000496	HP:0000639	Nystagmus	2	OGDHL CL E G H	55753	25590	OMIM:619701	YOON-BELLEN NEURODEVELOPMENTAL SYNDROME; YOBELN			3
HP:0000496	HP:0000639	Nystagmus	2	OGT CL E G H	8473	8127	OMIM:300997	Mental retardation, X-linked 106			4
HP:0000496	HP:0000602	Ophthalmoplegia	2	OPA1 CL E G H	4976	8140	ORPHA:1215	Autosomal dominant optic atrophy plus syndrome			214
HP:0000496	HP:0000486	Strabismus	2	OPA1 CL E G H	4976	8140	ORPHA:98673	Autosomal dominant optic atrophy, classic form			214
HP:0000496	HP:0000602	Ophthalmoplegia	2	OPA1 CL E G H	4976	8140	ORPHA:98673	Autosomal dominant optic atrophy, classic form	HP:0040282 - Frequent		214
HP:0000496	HP:0000639	Nystagmus	2	OPA1 CL E G H	4976	8140	ORPHA:98673	Autosomal dominant optic atrophy, classic form	HP:0040284 - Very rare		214
HP:0000496	HP:0000639	Nystagmus	2	OPA1 CL E G H	4976	8140	OMIM:210000	Behr syndrome	.		214
HP:0000496	HP:0000486	Strabismus	2	OPA1 CL E G H	4976	8140	OMIM:165500	Optic atrophy 1			214
HP:0000496	HP:0000602	Ophthalmoplegia	2	OPA1 CL E G H	4976	8140	OMIM:165500	Optic atrophy 1			214
HP:0000496	HP:0000639	Nystagmus	2	OPA1 CL E G H	4976	8140	OMIM:165500	Optic atrophy 1			214
HP:0000496	HP:0000486	Strabismus	2	OPA1 CL E G H	4976	8140	OMIM:125250	Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy	.		214
HP:0000496	HP:0000602	Ophthalmoplegia	2	OPA1 CL E G H	4976	8140	OMIM:125250	Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy	.		214
HP:0000496	HP:0000639	Nystagmus	2	OPA1 CL E G H	4976	8140	OMIM:125250	Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy			214
HP:0000496	HP:0000639	Nystagmus	2	OPA3 CL E G H	80207	8142	ORPHA:67047	3-methylglutaconic aciduria type 3	HP:0040282 - Frequent		163
HP:0000496	HP:0000639	Nystagmus	2	OPA3 CL E G H	80207	8142	ORPHA:67036	Autosomal dominant optic atrophy and cataract	HP:0040282 - Frequent		163
HP:0000496	HP:0000486	Strabismus	2	OPHN1 CL E G H	4983	8148	OMIM:300486	Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance			55
HP:0000496	HP:0000639	Nystagmus	2	OPHN1 CL E G H	4983	8148	OMIM:300486	Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance	.		55
HP:0000496	HP:0000486	Strabismus	2	OPHN1 CL E G H	4983	8148	ORPHA:137831	X-linked intellectual disability-cerebellar hypoplasia syndrome	HP:0040282 - Frequent		55
HP:0000496	HP:0000639	Nystagmus	2	OPN1LW CL E G H	5956	9936	OMIM:303700	Blue cone monochromacy	HP:0040282 - Frequent		7
HP:0000496	HP:0000639	Nystagmus	2	OPN1MW CL E G H	2652	4206	OMIM:303700	Blue cone monochromacy	HP:0040282 - Frequent		5
HP:0000496	HP:0000639	Nystagmus	2	OPN1SW CL E G H	611	1012	ORPHA:88629	Tritanopia			3
HP:0000496	HP:0000486	Strabismus	2	ORC1 CL E G H	4998	8487	OMIM:224690	Meier-Gorlin syndrome 1	.		53
HP:0000496	HP:0000486	Strabismus	2	OSGEP CL E G H	55644	18028	OMIM:617729	Galloway-Mowat syndrome 3	.
HP:0000496	HP:0000639	Nystagmus	2	OSTM1 CL E G H	28962	21652	OMIM:259720	Osteopetrosis, autosomal recessive 5	.		73
HP:0000496	HP:0000486	Strabismus	2	OTUD5 CL E G H	55593	25402	OMIM:301056	MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND
HP:0000496	HP:0000639	Nystagmus	2	OTUD5 CL E G H	55593	25402	OMIM:301056	MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND
HP:0000496	HP:0000486	Strabismus	2	OTX2 CL E G H	5015	8522	ORPHA:35612	Nanophthalmos	HP:0040281 - Very frequent		41
HP:0000496	HP:0000486	Strabismus	2	OTX2 CL E G H	5015	8522	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040282 - Frequent		41
HP:0000496	HP:0000639	Nystagmus	2	OTX2 CL E G H	5015	8522	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040282 - Frequent		41
HP:0000496	HP:0000486	Strabismus	2	OVOL2 CL E G H	58495	15804	ORPHA:98973	Posterior polymorphous corneal dystrophy			4
HP:0000496	HP:0000639	Nystagmus	2	OXR1 CL E G H	55074	15822	OMIM:213000	Cerebellar hypoplasia	.		1
HP:0000496	HP:0000639	Nystagmus	2	P4HA2 CL E G H	8974	8547	ORPHA:397	Giant cell arteritis	HP:0040283 - Occasional		3
HP:0000496	HP:0000486	Strabismus	2	P4HTM CL E G H	54681	28858	OMIM:618493	Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities	.
HP:0000496	HP:0000639	Nystagmus	2	P4HTM CL E G H	54681	28858	OMIM:618493	Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities
HP:0000496	HP:0000602	Ophthalmoplegia	2	PABPN1 CL E G H	8106	8565	ORPHA:270	Oculopharyngeal muscular dystrophy	HP:0040281 - Very frequent		10
HP:0000496	HP:0000486	Strabismus	2	PACS1 CL E G H	55690	30032	OMIM:615009	Schuurs-Hoeijmakers syndrome	.		24
HP:0000496	HP:0000639	Nystagmus	2	PACS1 CL E G H	55690	30032	OMIM:615009	Schuurs-Hoeijmakers syndrome	.		24
HP:0000496	HP:0000486	Strabismus	2	PACS2 CL E G H	23241	23794	OMIM:618067	Epileptic encephalopathy, early infantile, 66	.
HP:0000496	HP:0000639	Nystagmus	2	PACS2 CL E G H	23241	23794	OMIM:618067	Epileptic encephalopathy, early infantile, 66	.
HP:0000496	HP:0007772	Impaired smooth pursuit	2	PAFAH1B1 CL E G H	5048	8574	ORPHA:95232	Lissencephaly due to LIS1 mutation	HP:0040282 - Frequent		231
HP:0000496	HP:0000486	Strabismus	2	PAH CL E G H	5053	8582	ORPHA:2209	Maternal phenylketonuria	HP:0040284 - Very rare		641
HP:0000496	HP:0000486	Strabismus	2	PAK1 CL E G H	5058	8590	OMIM:618158	Intellectual developmental disorder with macrocephaly, seizures, and speech delay
HP:0000496	HP:0000486	Strabismus	2	PAK2 CL E G H	5062	8591	ORPHA:1571	Knobloch syndrome	HP:0040283 - Occasional
HP:0000496	HP:0000639	Nystagmus	2	PAK2 CL E G H	5062	8591	ORPHA:1571	Knobloch syndrome	HP:0040282 - Frequent
HP:0000496	HP:0000486	Strabismus	2	PALB2 CL E G H	79728	26144	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		1349
HP:0000496	HP:0000639	Nystagmus	2	PALB2 CL E G H	79728	26144	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		1349
HP:0000496	HP:0000639	Nystagmus	2	PANK4 CL E G H	55229	19366	OMIM:619593	CATARACT 49; CTRCT49
HP:0000496	HP:0000639	Nystagmus	2	PARS2 CL E G H	25973	30563	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		14
HP:0000496	HP:0000486	Strabismus	2	PAX2 CL E G H	5076	8616	OMIM:120330	Papillorenal syndrome			39
HP:0000496	HP:0000639	Nystagmus	2	PAX2 CL E G H	5076	8616	OMIM:120330	Papillorenal syndrome			39
HP:0000496	HP:0000486	Strabismus	2	PAX2 CL E G H	5076	8616	ORPHA:1475	Renal coloboma syndrome	HP:0040283 - Occasional		39
HP:0000496	HP:0000639	Nystagmus	2	PAX2 CL E G H	5076	8616	ORPHA:1475	Renal coloboma syndrome	HP:0040283 - Occasional		39
HP:0000496	HP:0000639	Nystagmus	2	PAX2 CL E G H	5076	8616	ORPHA:97362	Renal hypoplasia, bilateral			39
HP:0000496	HP:0000486	Strabismus	2	PAX3 CL E G H	5077	8617	ORPHA:894	Waardenburg syndrome type 1	HP:0040283 - Occasional		59
HP:0000496	HP:0000486	Strabismus	2	PAX6 CL E G H	5080	8620	OMIM:106210	Aniridia			194
HP:0000496	HP:0000639	Nystagmus	2	PAX6 CL E G H	5080	8620	OMIM:106210	Aniridia			194
HP:0000496	HP:0000486	Strabismus	2	PAX6 CL E G H	5080	8620	OMIM:604229	Anterior segment dysgenesis 5, multiple subtypes	.		194
HP:0000496	HP:0000639	Nystagmus	2	PAX6 CL E G H	5080	8620	OMIM:604229	Anterior segment dysgenesis 5, multiple subtypes	.		194
HP:0000496	HP:0000639	Nystagmus	2	PAX6 CL E G H	5080	8620	ORPHA:2334	Autosomal dominant keratitis			194
HP:0000496	HP:0000639	Nystagmus	2	PAX6 CL E G H	5080	8620	OMIM:120200	COLOBOMA, OCULAR, AUTOSOMAL DOMINANT			194
HP:0000496	HP:0000639	Nystagmus	2	PAX6 CL E G H	5080	8620	OMIM:136520	Foveal hypoplasia and presenile cataract syndromefoveal hypoplasia, isolated, included			194
HP:0000496	HP:0000486	Strabismus	2	PAX6 CL E G H	5080	8620	ORPHA:2253	Foveal hypoplasia-presenile cataract syndrome	HP:0040282 - Frequent		194
HP:0000496	HP:0000639	Nystagmus	2	PAX6 CL E G H	5080	8620	ORPHA:2253	Foveal hypoplasia-presenile cataract syndrome	HP:0040281 - Very frequent		194
HP:0000496	HP:0000639	Nystagmus	2	PAX6 CL E G H	5080	8620	ORPHA:250923	Isolated aniridia	HP:0040281 - Very frequent		194
HP:0000496	HP:0000486	Strabismus	2	PAX6 CL E G H	5080	8620	ORPHA:35737	Morning glory disc anomaly	HP:0040281 - Very frequent		194
HP:0000496	HP:0000639	Nystagmus	2	PAX6 CL E G H	5080	8620	ORPHA:35737	Morning glory disc anomaly	HP:0040283 - Occasional		194
HP:0000496	HP:0000639	Nystagmus	2	PAX6 CL E G H	5080	8620	OMIM:165550	OPTIC NERVE HYPOPLASIA, BILATERAL			194
HP:0000496	HP:0000486	Strabismus	2	PAX6 CL E G H	5080	8620	ORPHA:708	Peters anomaly	HP:0040284 - Very rare		194
HP:0000496	HP:0000639	Nystagmus	2	PAX6 CL E G H	5080	8620	ORPHA:708	Peters anomaly	HP:0040284 - Very rare		194
HP:0000496	HP:0000639	Nystagmus	2	PAX6 CL E G H	5080	8620	ORPHA:893	WAGR syndrome	HP:0040282 - Frequent		194
HP:0000496	HP:0000639	Nystagmus	2	PAX7 CL E G H	5081	8621	OMIM:618578	MYOPATHY, CONGENITAL, PROGRESSIVE, WITH SCOLIOSIS; MYOSCO
HP:0000496	HP:0000486	Strabismus	2	PBX1 CL E G H	5087	8632	OMIM:617641	Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay	.		3
HP:0000496	HP:0000639	Nystagmus	2	PBX1 CL E G H	5087	8632	ORPHA:97362	Renal hypoplasia, bilateral			3
HP:0000496	HP:0000602	Ophthalmoplegia	2	PCARE CL E G H	388939	34383	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent
HP:0000496	HP:0000639	Nystagmus	2	PCARE CL E G H	388939	34383	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent
HP:0000496	HP:0000486	Strabismus	2	PCDHGC4 CL E G H	56098	8717	OMIM:619880
HP:0000496	HP:0000639	Nystagmus	2	PCYT1A CL E G H	5130	8754	ORPHA:65	Leber congenital amaurosis	HP:0040282 - Frequent		11
HP:0000496	HP:0000639	Nystagmus	2	PCYT1A CL E G H	5130	8754	OMIM:608940	Spondylometaphyseal dysplasia with cone-rod dystrophy	.		11
HP:0000496	HP:0000486	Strabismus	2	PCYT1A CL E G H	5130	8754	ORPHA:85167	Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome	HP:0040283 - Occasional		11
HP:0000496	HP:0000602	Ophthalmoplegia	2	PCYT1A CL E G H	5130	8754	ORPHA:85167	Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome	HP:0040283 - Occasional		11
HP:0000496	HP:0000639	Nystagmus	2	PCYT1A CL E G H	5130	8754	ORPHA:85167	Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome	HP:0040283 - Occasional		11
HP:0000496	HP:0000639	Nystagmus	2	PCYT2 CL E G H	5833	8756	OMIM:618770	SPASTIC PARAPLEGIA 82, AUTOSOMAL RECESSIVE; SPG82
HP:0000496	HP:0000486	Strabismus	2	PDCD6IP CL E G H	10015	8766	OMIM:620047
HP:0000496	HP:0000486	Strabismus	2	PDE4D CL E G H	5144	8783	ORPHA:439822	PDE4D haploinsufficiency syndrome			113
HP:0000496	HP:0000602	Ophthalmoplegia	2	PDE6A CL E G H	5145	8785	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		116
HP:0000496	HP:0000639	Nystagmus	2	PDE6A CL E G H	5145	8785	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		116
HP:0000496	HP:0000486	Strabismus	2	PDE6B CL E G H	5158	8786	ORPHA:215	Congenital stationary night blindness	HP:0040282 - Frequent		126
HP:0000496	HP:0000639	Nystagmus	2	PDE6B CL E G H	5158	8786	ORPHA:215	Congenital stationary night blindness	HP:0040282 - Frequent		126
HP:0000496	HP:0000602	Ophthalmoplegia	2	PDE6B CL E G H	5158	8786	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		126
HP:0000496	HP:0000639	Nystagmus	2	PDE6B CL E G H	5158	8786	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		126
HP:0000496	HP:0000639	Nystagmus	2	PDE6C CL E G H	5146	8787	ORPHA:49382	Achromatopsia			80
HP:0000496	HP:0025549	Eccentric visual fixation	2	PDE6C CL E G H	5146	8787	ORPHA:49382	Achromatopsia	HP:0040283 - Occasional		80
HP:0000496	HP:0000639	Nystagmus	2	PDE6C CL E G H	5146	8787	OMIM:613093	Cone dystrophy 4	.		80
HP:0000496	HP:0000486	Strabismus	2	PDE6D CL E G H	5147	8788	ORPHA:2754	Orofaciodigital syndrome type 6			1
HP:0000496	HP:0000639	Nystagmus	2	PDE6D CL E G H	5147	8788	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040282 - Frequent		1
HP:0000496	HP:0000602	Ophthalmoplegia	2	PDE6G CL E G H	5148	8789	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		18
HP:0000496	HP:0000639	Nystagmus	2	PDE6G CL E G H	5148	8789	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		18
HP:0000496	HP:0000639	Nystagmus	2	PDE6H CL E G H	5149	8790	ORPHA:49382	Achromatopsia			14
HP:0000496	HP:0025549	Eccentric visual fixation	2	PDE6H CL E G H	5149	8790	ORPHA:49382	Achromatopsia	HP:0040283 - Occasional		14
HP:0000496	HP:0000639	Nystagmus	2	PDE6H CL E G H	5149	8790	OMIM:610024	Retinal cone dystrophy 3A	HP:0040283 - Occasional		14
HP:0000496	HP:0000602	Ophthalmoplegia	2	PDGFB CL E G H	5155	8800	ORPHA:2495	Meningioma	HP:0040283 - Occasional		9
HP:0000496	HP:0007715	Weak extraocular muscles	2	PDGFB CL E G H	5155	8800	ORPHA:2495	Meningioma	HP:0040283 - Occasional		9
HP:0000496	HP:0012246	Oculomotor nerve palsy	2	PDGFB CL E G H	5155	8800	ORPHA:2495	Meningioma	HP:0040283 - Occasional		9
HP:0000496	HP:0000639	Nystagmus	2	PDGFRB CL E G H	5159	8804	OMIM:615007	Basal ganglia calcification, idiopathic, 4	HP:0040283 - Occasional		28
HP:0000496	HP:0000486	Strabismus	2	PDHA1 CL E G H	5160	8806	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		88
HP:0000496	HP:0000602	Ophthalmoplegia	2	PDHA1 CL E G H	5160	8806	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		88
HP:0000496	HP:0000639	Nystagmus	2	PDHA1 CL E G H	5160	8806	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		88
HP:0000496	HP:0007772	Impaired smooth pursuit	2	PDHB CL E G H	5162	8808	ORPHA:255138	Pyruvate dehydrogenase E1-beta deficiency	HP:0040283 - Occasional		37
HP:0000496	HP:0000639	Nystagmus	2	PDP1 CL E G H	54704	9279	OMIM:608782	Pyruvate dehydrogenase phosphatase deficiency	.		52
HP:0000496	HP:0000486	Strabismus	2	PDPN CL E G H	10630	29602	ORPHA:1606	1p36 deletion syndrome	HP:0040282 - Frequent
HP:0000496	HP:0000639	Nystagmus	2	PDPN CL E G H	10630	29602	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0000496	HP:0000514	Slow saccadic eye movements	2	PDYN CL E G H	5173	8820	OMIM:610245	Spinocerebellar ataxia 23	.		52
HP:0000496	HP:0000514	Slow saccadic eye movements	2	PDYN CL E G H	5173	8820	ORPHA:101108	Spinocerebellar ataxia type 23	HP:0040282 - Frequent		52
HP:0000496	HP:0000639	Nystagmus	2	PDZD7 CL E G H	79955	26257	ORPHA:231178	Usher syndrome type 2	HP:0040283 - Occasional		40
HP:0000496	HP:0000486	Strabismus	2	PET100 CL E G H	100131801	40038	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		6
HP:0000496	HP:0000602	Ophthalmoplegia	2	PET100 CL E G H	100131801	40038	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		6
HP:0000496	HP:0000639	Nystagmus	2	PET100 CL E G H	100131801	40038	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		6
HP:0000496	HP:0000639	Nystagmus	2	PET100 CL E G H	100131801	40038	OMIM:619055	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 12; MC4DN12			6
HP:0000496	HP:0025405	Visual fixation instability	2	PET100 CL E G H	100131801	40038	OMIM:619055	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 12; MC4DN12			6
HP:0000496	HP:0000639	Nystagmus	2	PEX1 CL E G H	5189	8850	ORPHA:772	Infantile Refsum disease	HP:0040282 - Frequent		169
HP:0000496	HP:0000486	Strabismus	2	PEX1 CL E G H	5189	8850	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040281 - Very frequent		169
HP:0000496	HP:0000639	Nystagmus	2	PEX1 CL E G H	5189	8850	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040281 - Very frequent		169
HP:0000496	HP:0000639	Nystagmus	2	PEX1 CL E G H	5189	8850	OMIM:214100	Peroxisome biogenesis disorder 1A (Zellweger)	.		169
HP:0000496	HP:0000639	Nystagmus	2	PEX1 CL E G H	5189	8850	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent		169
HP:0000496	HP:0007772	Impaired smooth pursuit	2	PEX10 CL E G H	5192	8851	ORPHA:247815	Autosomal recessive ataxia due to PEX10 deficiency	HP:0040282 - Frequent		75
HP:0000496	HP:0000639	Nystagmus	2	PEX10 CL E G H	5192	8851	ORPHA:772	Infantile Refsum disease	HP:0040282 - Frequent		75
HP:0000496	HP:0000486	Strabismus	2	PEX10 CL E G H	5192	8851	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040281 - Very frequent		75
HP:0000496	HP:0000639	Nystagmus	2	PEX10 CL E G H	5192	8851	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040281 - Very frequent		75
HP:0000496	HP:0000639	Nystagmus	2	PEX10 CL E G H	5192	8851	OMIM:614871	Peroxisome biogenesis disorder 6B	.		75
HP:0000496	HP:0000641	Dysmetric saccades	2	PEX10 CL E G H	5192	8851	OMIM:614871	Peroxisome biogenesis disorder 6B	.		75
HP:0000496	HP:0007772	Impaired smooth pursuit	2	PEX10 CL E G H	5192	8851	OMIM:614871	Peroxisome biogenesis disorder 6B	.		75
HP:0000496	HP:0000639	Nystagmus	2	PEX10 CL E G H	5192	8851	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent		75
HP:0000496	HP:0000639	Nystagmus	2	PEX11B CL E G H	8799	8853	ORPHA:772	Infantile Refsum disease	HP:0040282 - Frequent		4
HP:0000496	HP:0000486	Strabismus	2	PEX11B CL E G H	8799	8853	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040281 - Very frequent		4
HP:0000496	HP:0000639	Nystagmus	2	PEX11B CL E G H	8799	8853	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040281 - Very frequent		4
HP:0000496	HP:0000639	Nystagmus	2	PEX11B CL E G H	8799	8853	OMIM:614920	Peroxisome biogenesis disorder 14B	.		4
HP:0000496	HP:0000639	Nystagmus	2	PEX11B CL E G H	8799	8853	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent		4
HP:0000496	HP:0000639	Nystagmus	2	PEX12 CL E G H	5193	8854	ORPHA:772	Infantile Refsum disease	HP:0040282 - Frequent		65
HP:0000496	HP:0000486	Strabismus	2	PEX12 CL E G H	5193	8854	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040281 - Very frequent		65
HP:0000496	HP:0000639	Nystagmus	2	PEX12 CL E G H	5193	8854	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040281 - Very frequent		65
HP:0000496	HP:0000639	Nystagmus	2	PEX12 CL E G H	5193	8854	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent		65
HP:0000496	HP:0000639	Nystagmus	2	PEX13 CL E G H	5194	8855	ORPHA:772	Infantile Refsum disease	HP:0040282 - Frequent		66
HP:0000496	HP:0000486	Strabismus	2	PEX13 CL E G H	5194	8855	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040281 - Very frequent		66
HP:0000496	HP:0000639	Nystagmus	2	PEX13 CL E G H	5194	8855	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040281 - Very frequent		66
HP:0000496	HP:0000639	Nystagmus	2	PEX13 CL E G H	5194	8855	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent		66
HP:0000496	HP:0000639	Nystagmus	2	PEX14 CL E G H	5195	8856	ORPHA:772	Infantile Refsum disease	HP:0040282 - Frequent		46
HP:0000496	HP:0000486	Strabismus	2	PEX14 CL E G H	5195	8856	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040281 - Very frequent		46
HP:0000496	HP:0000639	Nystagmus	2	PEX14 CL E G H	5195	8856	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040281 - Very frequent		46
HP:0000496	HP:0000639	Nystagmus	2	PEX14 CL E G H	5195	8856	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent		46
HP:0000496	HP:0000639	Nystagmus	2	PEX16 CL E G H	9409	8857	ORPHA:772	Infantile Refsum disease	HP:0040282 - Frequent		59
HP:0000496	HP:0000486	Strabismus	2	PEX16 CL E G H	9409	8857	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040281 - Very frequent		59
HP:0000496	HP:0000639	Nystagmus	2	PEX16 CL E G H	9409	8857	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040281 - Very frequent		59
HP:0000496	HP:0000639	Nystagmus	2	PEX16 CL E G H	9409	8857	OMIM:614877	Peroxisome biogenesis disorder 8B	.		59
HP:0000496	HP:0000639	Nystagmus	2	PEX16 CL E G H	9409	8857	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent		59
HP:0000496	HP:0000639	Nystagmus	2	PEX19 CL E G H	5824	9713	ORPHA:772	Infantile Refsum disease	HP:0040282 - Frequent		62
HP:0000496	HP:0000486	Strabismus	2	PEX19 CL E G H	5824	9713	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040281 - Very frequent		62
HP:0000496	HP:0000639	Nystagmus	2	PEX19 CL E G H	5824	9713	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040281 - Very frequent		62
HP:0000496	HP:0000639	Nystagmus	2	PEX19 CL E G H	5824	9713	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent		62
HP:0000496	HP:0000639	Nystagmus	2	PEX2 CL E G H	5828	9717	ORPHA:772	Infantile Refsum disease	HP:0040282 - Frequent		82
HP:0000496	HP:0000486	Strabismus	2	PEX2 CL E G H	5828	9717	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040281 - Very frequent		82
HP:0000496	HP:0000639	Nystagmus	2	PEX2 CL E G H	5828	9717	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040281 - Very frequent		82
HP:0000496	HP:0000514	Slow saccadic eye movements	2	PEX2 CL E G H	5828	9717	OMIM:614867	Peroxisome biogenesis disorder 5B	.		82
HP:0000496	HP:0000639	Nystagmus	2	PEX2 CL E G H	5828	9717	OMIM:614867	Peroxisome biogenesis disorder 5B	.		82
HP:0000496	HP:0000639	Nystagmus	2	PEX2 CL E G H	5828	9717	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent		82
HP:0000496	HP:0000639	Nystagmus	2	PEX26 CL E G H	55670	22965	ORPHA:772	Infantile Refsum disease	HP:0040282 - Frequent		106
HP:0000496	HP:0000486	Strabismus	2	PEX26 CL E G H	55670	22965	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040281 - Very frequent		106
HP:0000496	HP:0000639	Nystagmus	2	PEX26 CL E G H	55670	22965	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040281 - Very frequent		106
HP:0000496	HP:0000639	Nystagmus	2	PEX26 CL E G H	55670	22965	OMIM:614872	Peroxisome biogenesis disorder 7A (zellweger)	.		106
HP:0000496	HP:0000639	Nystagmus	2	PEX26 CL E G H	55670	22965	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent		106
HP:0000496	HP:0000639	Nystagmus	2	PEX3 CL E G H	8504	8858	ORPHA:772	Infantile Refsum disease	HP:0040282 - Frequent		47
HP:0000496	HP:0000486	Strabismus	2	PEX3 CL E G H	8504	8858	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040281 - Very frequent		47
HP:0000496	HP:0000639	Nystagmus	2	PEX3 CL E G H	8504	8858	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040281 - Very frequent		47
HP:0000496	HP:0000639	Nystagmus	2	PEX3 CL E G H	8504	8858	OMIM:617370	Peroxisome biogenesis disorder 10B	.		47
HP:0000496	HP:0000639	Nystagmus	2	PEX3 CL E G H	8504	8858	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent		47
HP:0000496	HP:0000639	Nystagmus	2	PEX5 CL E G H	5830	9719	ORPHA:772	Infantile Refsum disease	HP:0040282 - Frequent		99
HP:0000496	HP:0000486	Strabismus	2	PEX5 CL E G H	5830	9719	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040281 - Very frequent		99
HP:0000496	HP:0000639	Nystagmus	2	PEX5 CL E G H	5830	9719	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040281 - Very frequent		99
HP:0000496	HP:0000486	Strabismus	2	PEX5 CL E G H	5830	9719	OMIM:202370	Peroxisome biogenesis disorder 2B			99
HP:0000496	HP:0000639	Nystagmus	2	PEX5 CL E G H	5830	9719	OMIM:616716	RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5; RCDP5			99
HP:0000496	HP:0000639	Nystagmus	2	PEX5 CL E G H	5830	9719	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent		99
HP:0000496	HP:0000639	Nystagmus	2	PEX6 CL E G H	5190	8859	ORPHA:95433	Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome	HP:0040282 - Frequent		98
HP:0000496	HP:0000639	Nystagmus	2	PEX6 CL E G H	5190	8859	ORPHA:772	Infantile Refsum disease	HP:0040282 - Frequent		98
HP:0000496	HP:0000486	Strabismus	2	PEX6 CL E G H	5190	8859	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040281 - Very frequent		98
HP:0000496	HP:0000639	Nystagmus	2	PEX6 CL E G H	5190	8859	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040281 - Very frequent		98
HP:0000496	HP:0000639	Nystagmus	2	PEX6 CL E G H	5190	8859	OMIM:614863	Peroxisome biogenesis disorder 4B	.		98
HP:0000496	HP:0000639	Nystagmus	2	PEX6 CL E G H	5190	8859	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent		98
HP:0000496	HP:0000639	Nystagmus	2	PEX7 CL E G H	5191	8860	OMIM:266500	Refsum disease	.		72
HP:0000496	HP:0000639	Nystagmus	2	PEX7 CL E G H	5191	8860	ORPHA:773	Refsum disease	HP:0040283 - Occasional		72
HP:0000496	HP:0000639	Nystagmus	2	PGAP1 CL E G H	80055	25712	OMIM:615802	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42; MRT42			20
HP:0000496	HP:0000486	Strabismus	2	PGAP2 CL E G H	27315	17893	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			8
HP:0000496	HP:0000486	Strabismus	2	PGAP3 CL E G H	93210	23719	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			20
HP:0000496	HP:0000486	Strabismus	2	PHF21A CL E G H	51317	24156	ORPHA:52022	Potocki-Shaffer syndrome	HP:0040282 - Frequent		2
HP:0000496	HP:0000639	Nystagmus	2	PHF21A CL E G H	51317	24156	ORPHA:52022	Potocki-Shaffer syndrome	HP:0040282 - Frequent		2
HP:0000496	HP:0000639	Nystagmus	2	PHF6 CL E G H	84295	18145	OMIM:301900	Borjeson-Forssman-Lehmann syndrome	.		29
HP:0000496	HP:0000639	Nystagmus	2	PHF6 CL E G H	84295	18145	ORPHA:127	Borjeson-Forssman-Lehmann syndrome	HP:0040283 - Occasional		29
HP:0000496	HP:0000486	Strabismus	2	PHGDH CL E G H	26227	8923	ORPHA:79351	3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form			37
HP:0000496	HP:0000639	Nystagmus	2	PHGDH CL E G H	26227	8923	OMIM:601815	Phosphoglycerate dehydrogenase deficiency	.		37
HP:0000496	HP:0000486	Strabismus	2	PHIP CL E G H	55023	15673	OMIM:617991	Developmental delay, intellectual disability, obesity, and dysmorphic features	.		11
HP:0000496	HP:0000639	Nystagmus	2	PHIP CL E G H	55023	15673	OMIM:617991	Developmental delay, intellectual disability, obesity, and dysmorphic features	.		11
HP:0000496	HP:0000486	Strabismus	2	PHIP CL E G H	55023	15673	ORPHA:589905	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome			11
HP:0000496	HP:0000486	Strabismus	2	PHOX2A CL E G H	401	691	OMIM:602078	Fibrosis of extraocular muscles, congenital, 2			6
HP:0000496	HP:0000602	Ophthalmoplegia	2	PHOX2A CL E G H	401	691	OMIM:602078	Fibrosis of extraocular muscles, congenital, 2			6
HP:0000496	HP:0000486	Strabismus	2	PHOX2B CL E G H	8929	9143	ORPHA:99803	Haddad syndrome	HP:0040281 - Very frequent		86
HP:0000496	HP:0000639	Nystagmus	2	PHYH CL E G H	5264	8940	ORPHA:773	Refsum disease	HP:0040283 - Occasional		45
HP:0000496	HP:0000639	Nystagmus	2	PHYH CL E G H	5264	8940	OMIM:266500	Refsum disease	.		45
HP:0000496	HP:0000639	Nystagmus	2	PI4KA CL E G H	5297	8983	ORPHA:98889	Bilateral perisylvian polymicrogyria	HP:0040283 - Occasional		11
HP:0000496	HP:0000486	Strabismus	2	PI4KA CL E G H	5297	8983	OMIM:619708	GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 2; GIDID2			11
HP:0000496	HP:0000639	Nystagmus	2	PI4KA CL E G H	5297	8983	OMIM:619708	GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 2; GIDID2			11
HP:0000496	HP:0000639	Nystagmus	2	PI4KA CL E G H	5297	8983	OMIM:619621	SPASTIC PARAPLEGIA 84, AUTOSOMAL RECESSIVE; SPG84			11
HP:0000496	HP:0000486	Strabismus	2	PIBF1 CL E G H	10464	23352	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional		4
HP:0000496	HP:0000639	Nystagmus	2	PIBF1 CL E G H	10464	23352	ORPHA:475	Joubert syndrome	HP:0040282 - Frequent		4
HP:0000496	HP:0000486	Strabismus	2	PIDD1 CL E G H	55367	16491	OMIM:619827	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 75, WITH NEUROPSYCHIATRIC FEATURES AND VARIANT LISSENCEPHALY; MRT75
HP:0000496	HP:0000602	Ophthalmoplegia	2	PIEZO2 CL E G H	63895	26270	OMIM:114300	Arthrogryposis, distal, type 3	HP:0040283 - Occasional		77
HP:0000496	HP:0000486	Strabismus	2	PIEZO2 CL E G H	63895	26270	OMIM:108145	Arthrogryposis, distal, type 5	.		77
HP:0000496	HP:0000602	Ophthalmoplegia	2	PIEZO2 CL E G H	63895	26270	OMIM:108145	Arthrogryposis, distal, type 5	.		77
HP:0000496	HP:0000602	Ophthalmoplegia	2	PIEZO2 CL E G H	63895	26270	ORPHA:1154	Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome	HP:0040281 - Very frequent		77
HP:0000496	HP:0000486	Strabismus	2	PIEZO2 CL E G H	63895	26270	OMIM:248700	Marden-Walker syndrome	.		77
HP:0000496	HP:0000486	Strabismus	2	PIGG CL E G H	54872	25985	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040283 - Occasional		7
HP:0000496	HP:0000639	Nystagmus	2	PIGG CL E G H	54872	25985	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040283 - Occasional		7
HP:0000496	HP:0000486	Strabismus	2	PIGL CL E G H	9487	8966	ORPHA:3474	CHIME syndrome	HP:0040281 - Very frequent		36
HP:0000496	HP:0000486	Strabismus	2	PIGL CL E G H	9487	8966	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			36
HP:0000496	HP:0000486	Strabismus	2	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome	HP:0040282 - Frequent		37
HP:0000496	HP:0000639	Nystagmus	2	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome	HP:0040281 - Very frequent		37
HP:0000496	HP:0000639	Nystagmus	2	PIGN CL E G H	23556	8967	OMIM:614080	Multiple congenital anomalies-hypotonia-seizures syndrome 1	.		37
HP:0000496	HP:0000486	Strabismus	2	PIGO CL E G H	84720	23215	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			84
HP:0000496	HP:0000486	Strabismus	2	PIGP CL E G H	51227	3046	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare		2
HP:0000496	HP:0000486	Strabismus	2	PIGQ CL E G H	9091	14135	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare		3
HP:0000496	HP:0000639	Nystagmus	2	PIGQ CL E G H	9091	14135	OMIM:618548	MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 4; MCAHS4			3
HP:0000496	HP:0000639	Nystagmus	2	PIGS CL E G H	94005	14937	OMIM:618143	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18; GPIBD18
HP:0000496	HP:0000486	Strabismus	2	PIGT CL E G H	51604	14938	ORPHA:369837	Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome	HP:0040281 - Very frequent		12
HP:0000496	HP:0000605	Supranuclear gaze palsy	2	PIGT CL E G H	51604	14938	ORPHA:369837	Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome			12
HP:0000496	HP:0000639	Nystagmus	2	PIGT CL E G H	51604	14938	ORPHA:369837	Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome	HP:0040281 - Very frequent		12
HP:0000496	HP:0000486	Strabismus	2	PIGT CL E G H	51604	14938	OMIM:615398	Multiple congenital anomalies-hypotonia-seizures syndrome 3	.		12
HP:0000496	HP:0000639	Nystagmus	2	PIGT CL E G H	51604	14938	OMIM:615398	Multiple congenital anomalies-hypotonia-seizures syndrome 3	.		12
HP:0000496	HP:0000486	Strabismus	2	PIGU CL E G H	128869	15791	OMIM:618590	NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES, SEIZURES, AND SCOLIOSIS; NEDBSS
HP:0000496	HP:0000639	Nystagmus	2	PIGU CL E G H	128869	15791	OMIM:618590	NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES, SEIZURES, AND SCOLIOSIS; NEDBSS
HP:0000496	HP:0000486	Strabismus	2	PIGV CL E G H	55650	26031	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			57
HP:0000496	HP:0000486	Strabismus	2	PIGW CL E G H	284098	23213	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			6
HP:0000496	HP:0000486	Strabismus	2	PIGY CL E G H	84992	28213	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			2
HP:0000496	HP:0012246	Oculomotor nerve palsy	2	PIK3CA CL E G H	5290	8975	ORPHA:99802	Hemimegalencephaly	HP:0040283 - Occasional		162
HP:0000496	HP:0000602	Ophthalmoplegia	2	PIK3CA CL E G H	5290	8975	ORPHA:2495	Meningioma	HP:0040283 - Occasional		162
HP:0000496	HP:0007715	Weak extraocular muscles	2	PIK3CA CL E G H	5290	8975	ORPHA:2495	Meningioma	HP:0040283 - Occasional		162
HP:0000496	HP:0012246	Oculomotor nerve palsy	2	PIK3CA CL E G H	5290	8975	ORPHA:2495	Meningioma	HP:0040283 - Occasional		162
HP:0000496	HP:0000514	Slow saccadic eye movements	2	PIK3R5 CL E G H	23533	30035	OMIM:615217	Ataxia-Oculomotor apraxia 3	.		11
HP:0000496	HP:0000639	Nystagmus	2	PIK3R5 CL E G H	23533	30035	OMIM:615217	Ataxia-Oculomotor apraxia 3	.		11
HP:0000496	HP:0000486	Strabismus	2	PIK3R5 CL E G H	23533	30035	ORPHA:64753	Spinocerebellar ataxia with axonal neuropathy type 2	HP:0040283 - Occasional		11
HP:0000496	HP:0000639	Nystagmus	2	PIK3R5 CL E G H	23533	30035	ORPHA:64753	Spinocerebellar ataxia with axonal neuropathy type 2			11
HP:0000496	HP:0001152	Saccadic smooth pursuit	2	PIK3R5 CL E G H	23533	30035	ORPHA:64753	Spinocerebellar ataxia with axonal neuropathy type 2	HP:0040282 - Frequent		11
HP:0000496	HP:0000486	Strabismus	2	PITX2 CL E G H	5308	9005	OMIM:180500	Axenfeld-rieger syndrome, type 1	.		51
HP:0000496	HP:0000486	Strabismus	2	PITX2 CL E G H	5308	9005	ORPHA:708	Peters anomaly	HP:0040284 - Very rare		51
HP:0000496	HP:0000639	Nystagmus	2	PITX2 CL E G H	5308	9005	ORPHA:708	Peters anomaly	HP:0040284 - Very rare		51
HP:0000496	HP:0000571	Hypometric saccades	2	PLA2G6 CL E G H	8398	9039	ORPHA:199351	Adult-onset dystonia-parkinsonism	HP:0040282 - Frequent		133
HP:0000496	HP:0000605	Supranuclear gaze palsy	2	PLA2G6 CL E G H	8398	9039	ORPHA:199351	Adult-onset dystonia-parkinsonism	HP:0040283 - Occasional		133
HP:0000496	HP:0000486	Strabismus	2	PLA2G6 CL E G H	8398	9039	ORPHA:35069	Infantile neuroaxonal dystrophy	HP:0040283 - Occasional		133
HP:0000496	HP:0000605	Supranuclear gaze palsy	2	PLA2G6 CL E G H	8398	9039	ORPHA:35069	Infantile neuroaxonal dystrophy			133
HP:0000496	HP:0000639	Nystagmus	2	PLA2G6 CL E G H	8398	9039	ORPHA:35069	Infantile neuroaxonal dystrophy	HP:0040283 - Occasional		133
HP:0000496	HP:0000639	Nystagmus	2	PLA2G6 CL E G H	8398	9039	OMIM:256600	Neurodegeneration with brain iron accumulation 2A	.		133
HP:0000496	HP:0000639	Nystagmus	2	PLA2G6 CL E G H	8398	9039	OMIM:610217	Neurodegeneration with brain iron accumulation 2B	.		133
HP:0000496	HP:0007772	Impaired smooth pursuit	2	PLA2G6 CL E G H	8398	9039	OMIM:610217	Neurodegeneration with brain iron accumulation 2B	.		133
HP:0000496	HP:0000571	Hypometric saccades	2	PLA2G6 CL E G H	8398	9039	OMIM:612953	Parkinson disease 14, autosomal recessive			133
HP:0000496	HP:0000605	Supranuclear gaze palsy	2	PLA2G6 CL E G H	8398	9039	OMIM:612953	Parkinson disease 14, autosomal recessive	.		133
HP:0000496	HP:0000639	Nystagmus	2	PLA2G6 CL E G H	8398	9039	OMIM:612953	Parkinson disease 14, autosomal recessive			133
HP:0000496	HP:0000639	Nystagmus	2	PLAA CL E G H	9373	9043	OMIM:617527	Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies			3
HP:0000496	HP:0000639	Nystagmus	2	PLAA CL E G H	9373	9043	ORPHA:521426	PLAA-associated neurodevelopmental disorder	HP:0040283 - Occasional		3
HP:0000496	HP:0000514	Slow saccadic eye movements	2	PLD3 CL E G H	23646	17158	OMIM:617770	Spinocerebellar ataxia 46	.		2
HP:0000496	HP:0000639	Nystagmus	2	PLD3 CL E G H	23646	17158	OMIM:617770	Spinocerebellar ataxia 46	.		2
HP:0000496	HP:0000602	Ophthalmoplegia	2	PLEC CL E G H	5339	9069	ORPHA:257	Epidermolysis bullosa simplex with muscular dystrophy	HP:0040281 - Very frequent		759
HP:0000496	HP:0012246	Oculomotor nerve palsy	2	PLEC CL E G H	5339	9069	ORPHA:257	Epidermolysis bullosa simplex with muscular dystrophy	HP:0040281 - Very frequent		759
HP:0000496	HP:0000639	Nystagmus	2	PLEKHG2 CL E G H	64857	29515	OMIM:616763	Leukodystrophy and acquired microcephaly with or without dystonia			3
HP:0000496	HP:0000486	Strabismus	2	PLK4 CL E G H	10733	11397	ORPHA:2518	Autosomal recessive chorioretinopathy-microcephaly syndrome	HP:0040282 - Frequent		11
HP:0000496	HP:0000639	Nystagmus	2	PLK4 CL E G H	10733	11397	ORPHA:2518	Autosomal recessive chorioretinopathy-microcephaly syndrome	HP:0040282 - Frequent		11
HP:0000496	HP:0000486	Strabismus	2	PLOD1 CL E G H	5351	9081	ORPHA:1900	Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency	HP:0040284 - Very rare		105
HP:0000496	HP:0000605	Supranuclear gaze palsy	2	PLP1 CL E G H	5354	9086	OMIM:312080	Pelizaeus-Merzbacher disease			60
HP:0000496	HP:0000639	Nystagmus	2	PLP1 CL E G H	5354	9086	OMIM:312080	Pelizaeus-Merzbacher disease			60
HP:0000496	HP:0000639	Nystagmus	2	PLP1 CL E G H	5354	9086	ORPHA:280229	Pelizaeus-Merzbacher disease in female carriers	HP:0040283 - Occasional		60
HP:0000496	HP:0000639	Nystagmus	2	PLP1 CL E G H	5354	9086	ORPHA:280219	Pelizaeus-Merzbacher disease, classic form	HP:0040281 - Very frequent		60
HP:0000496	HP:0000639	Nystagmus	2	PLP1 CL E G H	5354	9086	ORPHA:280210	Pelizaeus-Merzbacher disease, connatal form	HP:0040281 - Very frequent		60
HP:0000496	HP:0000639	Nystagmus	2	PLP1 CL E G H	5354	9086	ORPHA:280224	Pelizaeus-Merzbacher disease, transitional form	HP:0040281 - Very frequent		60
HP:0000496	HP:0000639	Nystagmus	2	PLP1 CL E G H	5354	9086	OMIM:312920	Spastic paraplegia 2, X-linked	.		60
HP:0000496	HP:0000639	Nystagmus	2	PLP1 CL E G H	5354	9086	ORPHA:99015	Spastic paraplegia type 2	HP:0040283 - Occasional		60
HP:0000496	HP:0000486	Strabismus	2	PLPBP CL E G H	11212	9457	OMIM:617290	Epilepsy, early-onset, vitamin b6-dependent			6
HP:0000496	HP:0000486	Strabismus	2	PLXNA1 CL E G H	5361	9099	OMIM:619955
HP:0000496	HP:0000639	Nystagmus	2	PLXNA1 CL E G H	5361	9099	OMIM:619955
HP:0000496	HP:0000486	Strabismus	2	PLXND1 CL E G H	23129	9107	ORPHA:570	Moebius syndrome	HP:0040281 - Very frequent
HP:0000496	HP:0000602	Ophthalmoplegia	2	PLXND1 CL E G H	23129	9107	ORPHA:570	Moebius syndrome	HP:0040281 - Very frequent
HP:0000496	HP:0000486	Strabismus	2	PMM2 CL E G H	5373	9115	OMIM:212065	Congenital disorder of glycosylation, type Ia			150
HP:0000496	HP:0000639	Nystagmus	2	PMM2 CL E G H	5373	9115	OMIM:212065	Congenital disorder of glycosylation, type Ia	.		150
HP:0000496	HP:0000486	Strabismus	2	PMM2 CL E G H	5373	9115	ORPHA:79318	PMM2-CDG	HP:0040281 - Very frequent		150
HP:0000496	HP:0000639	Nystagmus	2	PMP22 CL E G H	5376	9118	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas	HP:0040283 - Occasional		79
HP:0000496	HP:0000639	Nystagmus	2	PMP22 CL E G H	5376	9118	ORPHA:3115	Roussy-Lévy syndrome	HP:0040282 - Frequent		79
HP:0000496	HP:0000602	Ophthalmoplegia	2	PMPCA CL E G H	23203	18667	ORPHA:1170	Autosomal recessive cerebelloparenchymal disorder type 3	HP:0040283 - Occasional		7
HP:0000496	HP:0000639	Nystagmus	2	PMPCA CL E G H	23203	18667	ORPHA:1170	Autosomal recessive cerebelloparenchymal disorder type 3			7
HP:0000496	HP:0000639	Nystagmus	2	PMPCA CL E G H	23203	18667	OMIM:213200	Spinocerebellar ataxia, autosomal recessive 2	HP:0040283 - Occasional		7
HP:0000496	HP:0001152	Saccadic smooth pursuit	2	PMPCA CL E G H	23203	18667	OMIM:213200	Spinocerebellar ataxia, autosomal recessive 2	.		7
HP:0000496	HP:0000486	Strabismus	2	PNKP CL E G H	11284	9154	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare		244
HP:0000496	HP:0000639	Nystagmus	2	PNPLA6 CL E G H	10908	16268	ORPHA:1173	Cerebellar ataxia-hypogonadism syndrome	HP:0040281 - Very frequent		103
HP:0000496	HP:0000486	Strabismus	2	PNPLA6 CL E G H	10908	16268	ORPHA:2377	Laurence-Moon syndrome	HP:0040283 - Occasional		103
HP:0000496	HP:0000639	Nystagmus	2	PNPLA6 CL E G H	10908	16268	OMIM:245800	Laurence-Moon syndrome	.		103
HP:0000496	HP:0000639	Nystagmus	2	PNPLA6 CL E G H	10908	16268	ORPHA:2377	Laurence-Moon syndrome	HP:0040283 - Occasional		103
HP:0000496	HP:0000639	Nystagmus	2	PNPLA6 CL E G H	10908	16268	OMIM:275400	Oliver-Mcfarlane syndrome	.		103
HP:0000496	HP:0000639	Nystagmus	2	PNPO CL E G H	55163	30260	OMIM:610090	Pyridoxamine 5-prime-phosphate oxidase deficiency			92
HP:0000496	HP:0000639	Nystagmus	2	PNPT1 CL E G H	87178	23166	ORPHA:319514	Combined oxidative phosphorylation defect type 13	HP:0040282 - Frequent		60
HP:0000496	HP:0000639	Nystagmus	2	PNPT1 CL E G H	87178	23166	OMIM:614932	Combined oxidative phosphorylation deficiency 13	.		60
HP:0000496	HP:0000486	Strabismus	2	PNPT1 CL E G H	87178	23166	OMIM:608703	Spinocerebellar ataxia 25	.		60
HP:0000496	HP:0000639	Nystagmus	2	PNPT1 CL E G H	87178	23166	OMIM:608703	Spinocerebellar ataxia 25	.		60
HP:0000496	HP:0000486	Strabismus	2	PNPT1 CL E G H	87178	23166	ORPHA:101111	Spinocerebellar ataxia type 25	HP:0040282 - Frequent		60
HP:0000496	HP:0000639	Nystagmus	2	PNPT1 CL E G H	87178	23166	ORPHA:101111	Spinocerebellar ataxia type 25	HP:0040282 - Frequent		60
HP:0000496	HP:0000639	Nystagmus	2	POC1B CL E G H	282809	30836	OMIM:615973	Cone-Rod dystrophy 20	HP:0040283 - Occasional		3
HP:0000496	HP:0000486	Strabismus	2	POGZ CL E G H	23126	18801	OMIM:616364	White-Sutton syndrome	.		35
HP:0000496	HP:0000486	Strabismus	2	POGZ CL E G H	23126	18801	ORPHA:468678	White-Sutton syndrome	HP:0040283 - Occasional		35
HP:0000496	HP:0000639	Nystagmus	2	POGZ CL E G H	23126	18801	OMIM:616364	White-Sutton syndrome			35
HP:0000496	HP:0000486	Strabismus	2	POLA1 CL E G H	5422	9173	OMIM:301030	Van esch-o'driscoll syndrome			2
HP:0000496	HP:0000602	Ophthalmoplegia	2	POLG CL E G H	5428	9179	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040282 - Frequent		464
HP:0000496	HP:0000602	Ophthalmoplegia	2	POLG CL E G H	5428	9179	ORPHA:254886	Autosomal recessive progressive external ophthalmoplegia			464
HP:0000496	HP:0000602	Ophthalmoplegia	2	POLG CL E G H	5428	9179	OMIM:603041	Mitochondrial DNA depletion syndrome 1 (mngie type)			464
HP:0000496	HP:0000602	Ophthalmoplegia	2	POLG CL E G H	5428	9179	OMIM:613662	Mitochondrial DNA depletion syndrome 4B (mngie type)			464
HP:0000496	HP:0000602	Ophthalmoplegia	2	POLG CL E G H	5428	9179	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy			464
HP:0000496	HP:0000602	Ophthalmoplegia	2	POLG CL E G H	5428	9179	OMIM:157640	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1			464
HP:0000496	HP:0000486	Strabismus	2	POLG CL E G H	5428	9179	OMIM:258450	Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive			464
HP:0000496	HP:0000602	Ophthalmoplegia	2	POLG CL E G H	5428	9179	OMIM:258450	Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive			464
HP:0000496	HP:0000602	Ophthalmoplegia	2	POLG CL E G H	5428	9179	ORPHA:94125	Recessive mitochondrial ataxia syndrome	HP:0040282 - Frequent		464
HP:0000496	HP:0000602	Ophthalmoplegia	2	POLG CL E G H	5428	9179	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis			464
HP:0000496	HP:0000639	Nystagmus	2	POLG CL E G H	5428	9179	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis	.		464
HP:0000496	HP:0000605	Supranuclear gaze palsy	2	POLG CL E G H	5428	9179	ORPHA:70595	Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome			464
HP:0000496	HP:0000639	Nystagmus	2	POLG CL E G H	5428	9179	ORPHA:70595	Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome	HP:0040282 - Frequent		464
HP:0000496	HP:0000602	Ophthalmoplegia	2	POLG2 CL E G H	11232	9180	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040282 - Frequent		45
HP:0000496	HP:0000602	Ophthalmoplegia	2	POLG2 CL E G H	11232	9180	OMIM:610131	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4			45
HP:0000496	HP:0000486	Strabismus	2	POLR1B CL E G H	84172	20454	ORPHA:861	Treacher-Collins syndrome	HP:0040282 - Frequent
HP:0000496	HP:0000486	Strabismus	2	POLR1C CL E G H	9533	20194	ORPHA:861	Treacher-Collins syndrome	HP:0040282 - Frequent		38
HP:0000496	HP:0000486	Strabismus	2	POLR1D CL E G H	51082	20422	ORPHA:861	Treacher-Collins syndrome	HP:0040282 - Frequent		31
HP:0000496	HP:0000486	Strabismus	2	POLR2A CL E G H	5430	9187	OMIM:618603	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND VARIABLE INTELLECTUAL AND BEHAVIORAL ABNORMALITIES; NEDHIB
HP:0000496	HP:0000605	Supranuclear gaze palsy	2	POLR3A CL E G H	11128	30074	OMIM:607694	Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism			138
HP:0000496	HP:0000639	Nystagmus	2	POLR3A CL E G H	11128	30074	OMIM:607694	Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism	HP:0040283 - Occasional		138
HP:0000496	HP:0000605	Supranuclear gaze palsy	2	POLR3A CL E G H	11128	30074	ORPHA:447896	Tremor-ataxia-central hypomyelination syndrome			138
HP:0000496	HP:0000639	Nystagmus	2	POLR3A CL E G H	11128	30074	ORPHA:447896	Tremor-ataxia-central hypomyelination syndrome	HP:0040282 - Frequent		138
HP:0000496	HP:0000639	Nystagmus	2	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome	HP:0040283 - Occasional		138
HP:0000496	HP:0000639	Nystagmus	2	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome	.		138
HP:0000496	HP:0000605	Supranuclear gaze palsy	2	POLR3B CL E G H	55703	30348	OMIM:607694	Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism			67
HP:0000496	HP:0000639	Nystagmus	2	POLR3B CL E G H	55703	30348	OMIM:607694	Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism	HP:0040283 - Occasional		67
HP:0000496	HP:0000639	Nystagmus	2	POLR3B CL E G H	55703	30348	OMIM:614381	Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism			67
HP:0000496	HP:0007772	Impaired smooth pursuit	2	POLR3B CL E G H	55703	30348	OMIM:614381	Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism			67
HP:0000496	HP:0000639	Nystagmus	2	POLR3K CL E G H	51728	14121	OMIM:619310	LEUKODYSTROPHY, HYPOMYELINATING, 21; HLD21
HP:0000496	HP:0000486	Strabismus	2	POLRMT CL E G H	5442	9200	OMIM:619743	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55; COXPD55			1
HP:0000496	HP:0000602	Ophthalmoplegia	2	POLRMT CL E G H	5442	9200	OMIM:619743	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55; COXPD55			1
HP:0000496	HP:0000486	Strabismus	2	POMGNT1 CL E G H	55624	19139	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040283 - Occasional		180
HP:0000496	HP:0000486	Strabismus	2	POMGNT1 CL E G H	55624	19139	ORPHA:588	Muscle-eye-brain disease	HP:0040281 - Very frequent		180
HP:0000496	HP:0000486	Strabismus	2	POMGNT1 CL E G H	55624	19139	OMIM:253280	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3	.		180
HP:0000496	HP:0000639	Nystagmus	2	POMGNT1 CL E G H	55624	19139	OMIM:253280	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3	.		180
HP:0000496	HP:0007738	Uncontrolled eye movements	2	POMGNT1 CL E G H	55624	19139	OMIM:253280	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3	.		180
HP:0000496	HP:0000486	Strabismus	2	POMGNT1 CL E G H	55624	19139	OMIM:613151	Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3	.		180
HP:0000496	HP:0000602	Ophthalmoplegia	2	POMGNT1 CL E G H	55624	19139	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		180
HP:0000496	HP:0000639	Nystagmus	2	POMGNT1 CL E G H	55624	19139	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		180
HP:0000496	HP:0000486	Strabismus	2	POMK CL E G H	84197	26267	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040283 - Occasional		18
HP:0000496	HP:0000486	Strabismus	2	POMT1 CL E G H	10585	9202	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040283 - Occasional		213
HP:0000496	HP:0000486	Strabismus	2	POMT1 CL E G H	10585	9202	ORPHA:370968	Congenital muscular dystrophy with intellectual disability	HP:0040283 - Occasional		213
HP:0000496	HP:0000486	Strabismus	2	POMT1 CL E G H	10585	9202	ORPHA:588	Muscle-eye-brain disease	HP:0040281 - Very frequent		213
HP:0000496	HP:0000486	Strabismus	2	POMT2 CL E G H	29954	19743	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040283 - Occasional		221
HP:0000496	HP:0000486	Strabismus	2	POMT2 CL E G H	29954	19743	ORPHA:370968	Congenital muscular dystrophy with intellectual disability	HP:0040283 - Occasional		221
HP:0000496	HP:0000486	Strabismus	2	POMT2 CL E G H	29954	19743	ORPHA:588	Muscle-eye-brain disease	HP:0040281 - Very frequent		221
HP:0000496	HP:0000486	Strabismus	2	POMT2 CL E G H	29954	19743	OMIM:613156	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2	.		221
HP:0000496	HP:0000486	Strabismus	2	PORCN CL E G H	64840	17652	ORPHA:2092	Focal dermal hypoplasia	HP:0040282 - Frequent		20
HP:0000496	HP:0000486	Strabismus	2	PORCN CL E G H	64840	17652	OMIM:305600	Focal dermal hypoplasia	.		20
HP:0000496	HP:0000639	Nystagmus	2	PORCN CL E G H	64840	17652	OMIM:305600	Focal dermal hypoplasia	.		20
HP:0000496	HP:0000486	Strabismus	2	POU3F4 CL E G H	5456	9217	ORPHA:1435	Xq21 microdeletion syndrome	HP:0040283 - Occasional		40
HP:0000496	HP:0000639	Nystagmus	2	POU3F4 CL E G H	5456	9217	ORPHA:1435	Xq21 microdeletion syndrome	HP:0040283 - Occasional		40
HP:0000496	HP:0000486	Strabismus	2	POU4F1 CL E G H	5457	9218	OMIM:619352	ATAXIA, INTENTION TREMOR, AND HYPOTONIA SYNDROME, CHILDHOOD-ONSET; ATITHS
HP:0000496	HP:0000639	Nystagmus	2	POU4F1 CL E G H	5457	9218	OMIM:619352	ATAXIA, INTENTION TREMOR, AND HYPOTONIA SYNDROME, CHILDHOOD-ONSET; ATITHS
HP:0000496	HP:0000486	Strabismus	2	POU4F1 CL E G H	5457	9218	ORPHA:314647	Non-progressive cerebellar ataxia with intellectual disability	HP:0040282 - Frequent
HP:0000496	HP:0000639	Nystagmus	2	PPFIBP1 CL E G H	8496	9249	OMIM:620024
HP:0000496	HP:0000486	Strabismus	2	PPM1D CL E G H	8493	9277	OMIM:617450	Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold	.		22
HP:0000496	HP:0000639	Nystagmus	2	PPP1CB CL E G H	5500	9282	OMIM:617506	Noonan syndrome-like disorder with loose anagen hair 2			9
HP:0000496	HP:0000486	Strabismus	2	PPP1R12A CL E G H	4659	7618	OMIM:618820	GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME; GUBS
HP:0000496	HP:0000486	Strabismus	2	PPP1R21 CL E G H	129285	30595	OMIM:619383	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES; NEDHFBA
HP:0000496	HP:0000639	Nystagmus	2	PPP1R21 CL E G H	129285	30595	OMIM:619383	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES; NEDHFBA
HP:0000496	HP:0000486	Strabismus	2	PPP2R5D CL E G H	5528	9312	ORPHA:457279	Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome	HP:0040283 - Occasional		10
HP:0000496	HP:0000639	Nystagmus	2	PPP2R5D CL E G H	5528	9312	ORPHA:457279	Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome			10
HP:0000496	HP:0000486	Strabismus	2	PPP2R5D CL E G H	5528	9312	OMIM:616355	Mental retardation, autosomal dominant 35	.		10
HP:0000496	HP:0000639	Nystagmus	2	PPP3CA CL E G H	5530	9314	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		2
HP:0000496	HP:0000486	Strabismus	2	PQBP1 CL E G H	10084	9330	OMIM:309500	Renpenning syndrome			28
HP:0000496	HP:0000486	Strabismus	2	PQBP1 CL E G H	10084	9330	ORPHA:93945	X-linked intellectual disability, Porteous type	HP:0040282 - Frequent		28
HP:0000496	HP:0000486	Strabismus	2	PQBP1 CL E G H	10084	9330	ORPHA:93950	X-linked intellectual disability, Sutherland-Haan type	HP:0040283 - Occasional		28
HP:0000496	HP:0000602	Ophthalmoplegia	2	PRCD CL E G H	768206	32528	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		39
HP:0000496	HP:0000639	Nystagmus	2	PRCD CL E G H	768206	32528	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		39
HP:0000496	HP:0000639	Nystagmus	2	PRDM13 CL E G H	59336	13998	OMIM:619909				2
HP:0000496	HP:0000486	Strabismus	2	PRDM13 CL E G H	59336	13998	OMIM:619761	CEREBELLAR DYSFUNCTION, IMPAIRED INTELLECTUAL DEVELOPMENT, AND HYPOGONADOTROPIC HYPOGONADISM; CDIDHH			2
HP:0000496	HP:0000639	Nystagmus	2	PRDM13 CL E G H	59336	13998	OMIM:619761	CEREBELLAR DYSFUNCTION, IMPAIRED INTELLECTUAL DEVELOPMENT, AND HYPOGONADOTROPIC HYPOGONADISM; CDIDHH			2
HP:0000496	HP:0000486	Strabismus	2	PRDM16 CL E G H	63976	14000	ORPHA:1606	1p36 deletion syndrome	HP:0040282 - Frequent		148
HP:0000496	HP:0000639	Nystagmus	2	PRDM16 CL E G H	63976	14000	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		148
HP:0000496	HP:0000639	Nystagmus	2	PRDX1 CL E G H	5052	9352	OMIM:277400	Methylmalonic aciduria and homocystinuria, Cblc type	.
HP:0000496	HP:0000639	Nystagmus	2	PRDX3 CL E G H	10935	9354	OMIM:619862
HP:0000496	HP:0001152	Saccadic smooth pursuit	2	PRDX3 CL E G H	10935	9354	OMIM:619862
HP:0000496	HP:0007338	Hypermetric saccades	2	PRDX3 CL E G H	10935	9354	OMIM:619862
HP:0000496	HP:0000486	Strabismus	2	PRKACA CL E G H	5566	9380	ORPHA:289	Ellis Van Creveld syndrome	HP:0040282 - Frequent		2
HP:0000496	HP:0000486	Strabismus	2	PRKACB CL E G H	5567	9381	ORPHA:289	Ellis Van Creveld syndrome	HP:0040282 - Frequent		2
HP:0000496	HP:0000486	Strabismus	2	PRKAR1A CL E G H	5573	9388	OMIM:101800	Acrodysostosis 1, with or without hormone resistance	.		134
HP:0000496	HP:0000486	Strabismus	2	PRKAR1B CL E G H	5575	9390	OMIM:619680	MARBACH-SCHAAF NEURODEVELOPMENTAL SYNDROME; MASNS			2
HP:0000496	HP:0000639	Nystagmus	2	PRKCG CL E G H	5582	9402	OMIM:605361	Spinocerebellar ataxia 14	.		83
HP:0000496	HP:0000639	Nystagmus	2	PRKCG CL E G H	5582	9402	ORPHA:98763	Spinocerebellar ataxia type 14			83
HP:0000496	HP:0001152	Saccadic smooth pursuit	2	PRKCG CL E G H	5582	9402	ORPHA:98763	Spinocerebellar ataxia type 14	HP:0040283 - Occasional		83
HP:0000496	HP:0000486	Strabismus	2	PRKCZ CL E G H	5590	9412	ORPHA:1606	1p36 deletion syndrome	HP:0040282 - Frequent
HP:0000496	HP:0000639	Nystagmus	2	PRKCZ CL E G H	5590	9412	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0000496	HP:0000639	Nystagmus	2	PRKD1 CL E G H	5587	9407	OMIM:617364	Congenital heart defects and ectodermal dysplasia	.		7
HP:0000496	HP:0000486	Strabismus	2	PRMT7 CL E G H	54496	25557	OMIM:617157	Short stature, brachydactyly, intellectual developmental disability, and seizures	.		6
HP:0000496	HP:0000486	Strabismus	2	PRMT7 CL E G H	54496	25557	ORPHA:464288	Short stature-brachydactyly-obesity-global developmental delay syndrome	HP:0040282 - Frequent		6
HP:0000496	HP:0000605	Supranuclear gaze palsy	2	PRNP CL E G H	5621	9449	OMIM:123400	Creutzfeldt-Jakob disease	.		69
HP:0000496	HP:0007772	Impaired smooth pursuit	2	PRNP CL E G H	5621	9449	OMIM:137440	Gerstmann-Straussler disease	.		69
HP:0000496	HP:0000514	Slow saccadic eye movements	2	PRNP CL E G H	5621	9449	ORPHA:157941	Huntington disease-like 1	HP:0040283 - Occasional		69
HP:0000496	HP:0000639	Nystagmus	2	PRNP CL E G H	5621	9449	ORPHA:157941	Huntington disease-like 1	HP:0040283 - Occasional		69
HP:0000496	HP:0008003	Jerky ocular pursuit movements	2	PRNP CL E G H	5621	9449	ORPHA:157941	Huntington disease-like 1	HP:0040283 - Occasional		69
HP:0000496	HP:0000605	Supranuclear gaze palsy	2	PRNP CL E G H	5621	9449	ORPHA:282166	Inherited Creutzfeldt-Jakob disease	HP:0040282 - Frequent		69
HP:0000496	HP:0000639	Nystagmus	2	PRNP CL E G H	5621	9449	ORPHA:282166	Inherited Creutzfeldt-Jakob disease	HP:0040282 - Frequent		69
HP:0000496	HP:0000639	Nystagmus	2	PROK2 CL E G H	60675	18455	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional		9
HP:0000496	HP:0000639	Nystagmus	2	PROKR2 CL E G H	128674	15836	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional		34
HP:0000496	HP:0000486	Strabismus	2	PROKR2 CL E G H	128674	15836	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040282 - Frequent		34
HP:0000496	HP:0000639	Nystagmus	2	PROKR2 CL E G H	128674	15836	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040282 - Frequent		34
HP:0000496	HP:0000602	Ophthalmoplegia	2	PROM1 CL E G H	8842	9454	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		110
HP:0000496	HP:0000639	Nystagmus	2	PROM1 CL E G H	8842	9454	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		110
HP:0000496	HP:0000639	Nystagmus	2	PROM1 CL E G H	8842	9454	OMIM:612095	RETINITIS PIGMENTOSA 41; RP41			110
HP:0000496	HP:0007704	Paroxysmal involuntary eye movements	2	PROM1 CL E G H	8842	9454	ORPHA:827	Stargardt disease	HP:0040281 - Very frequent		110
HP:0000496	HP:0000602	Ophthalmoplegia	2	PRPF3 CL E G H	9129	17348	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		28
HP:0000496	HP:0000639	Nystagmus	2	PRPF3 CL E G H	9129	17348	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		28
HP:0000496	HP:0000602	Ophthalmoplegia	2	PRPF31 CL E G H	26121	15446	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		70
HP:0000496	HP:0000639	Nystagmus	2	PRPF31 CL E G H	26121	15446	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		70
HP:0000496	HP:0000602	Ophthalmoplegia	2	PRPF4 CL E G H	9128	17349	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		2
HP:0000496	HP:0000639	Nystagmus	2	PRPF4 CL E G H	9128	17349	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		2
HP:0000496	HP:0000602	Ophthalmoplegia	2	PRPF6 CL E G H	24148	15860	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		51
HP:0000496	HP:0000639	Nystagmus	2	PRPF6 CL E G H	24148	15860	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		51
HP:0000496	HP:0000602	Ophthalmoplegia	2	PRPF8 CL E G H	10594	17340	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		94
HP:0000496	HP:0000639	Nystagmus	2	PRPF8 CL E G H	10594	17340	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		94
HP:0000496	HP:0000602	Ophthalmoplegia	2	PRPH2 CL E G H	5961	9942	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		159
HP:0000496	HP:0000639	Nystagmus	2	PRPH2 CL E G H	5961	9942	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		159
HP:0000496	HP:0007704	Paroxysmal involuntary eye movements	2	PRPH2 CL E G H	5961	9942	ORPHA:827	Stargardt disease	HP:0040281 - Very frequent		159
HP:0000496	HP:0000639	Nystagmus	2	PRPS1 CL E G H	5631	9462	OMIM:301835	Arts syndrome	.		49
HP:0000496	HP:0000639	Nystagmus	2	PRPS1 CL E G H	5631	9462	ORPHA:1187	Lethal ataxia with deafness and optic atrophy	HP:0040282 - Frequent		49
HP:0000496	HP:0000486	Strabismus	2	PRPS1 CL E G H	5631	9462	OMIM:300661	Phosphoribosylpyrophosphate synthetase superactivity			49
HP:0000496	HP:0000486	Strabismus	2	PRPS1 CL E G H	5631	9462	ORPHA:423479	X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome			49
HP:0000496	HP:0000486	Strabismus	2	PRR12 CL E G H	57479	29217	OMIM:619539	NEUROOCULAR SYNDROME; NOC			1
HP:0000496	HP:0000639	Nystagmus	2	PRR12 CL E G H	57479	29217	OMIM:619539	NEUROOCULAR SYNDROME; NOC			1
HP:0000496	HP:0000639	Nystagmus	2	PRRT2 CL E G H	112476	30500	ORPHA:569	Familial or sporadic hemiplegic migraine			94
HP:0000496	HP:0000486	Strabismus	2	PRSS12 CL E G H	8492	9477	OMIM:249500	Mental retardation, autosomal recessive 1	.		73
HP:0000496	HP:0000639	Nystagmus	2	PRSS12 CL E G H	8492	9477	OMIM:249500	Mental retardation, autosomal recessive 1	.		73
HP:0000496	HP:0000486	Strabismus	2	PRSS56 CL E G H	646960	39433	ORPHA:35612	Nanophthalmos	HP:0040281 - Very frequent		11
HP:0000496	HP:0000639	Nystagmus	2	PRX CL E G H	57716	13797	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas	HP:0040283 - Occasional		170
HP:0000496	HP:0000605	Supranuclear gaze palsy	2	PSAP CL E G H	5660	9498	OMIM:610539	Gaucher disease, atypical			81
HP:0000496	HP:0000639	Nystagmus	2	PSAP CL E G H	5660	9498	OMIM:610539	Gaucher disease, atypical			81
HP:0000496	HP:0007704	Paroxysmal involuntary eye movements	2	PSAT1 CL E G H	29968	19129	ORPHA:284417	Phosphoserine aminotransferase deficiency, infantile/juvenile form	HP:0040283 - Occasional		27
HP:0000496	HP:0000486	Strabismus	2	PSMC3 CL E G H	5702	9549	OMIM:619354	DEAFNESS, CATARACT, IMPAIRED INTELLECTUAL DEVELOPMENT, AND POLYNEUROPATHY; DCIDP
HP:0000496	HP:0000486	Strabismus	2	PSMD12 CL E G H	5718	9557	OMIM:617516	Stankiewicz-Isidor syndrome			4
HP:0000496	HP:0000639	Nystagmus	2	PSMD12 CL E G H	5718	9557	OMIM:617516	Stankiewicz-Isidor syndrome			4
HP:0000496	HP:0000639	Nystagmus	2	PTCD3 CL E G H	55037	24717	OMIM:619057	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 51; COXPD51
HP:0000496	HP:0000486	Strabismus	2	PTCH1 CL E G H	5727	9585	OMIM:109400	Basal cell nevus syndrome			665
HP:0000496	HP:0000486	Strabismus	2	PTCH1 CL E G H	5727	9585	ORPHA:377	Gorlin syndrome	HP:0040283 - Occasional		665
HP:0000496	HP:0000486	Strabismus	2	PTCH1 CL E G H	5727	9585	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional		665
HP:0000496	HP:0000486	Strabismus	2	PTCH1 CL E G H	5727	9585	ORPHA:77301	Monosomy 9q22.3	HP:0040281 - Very frequent		665
HP:0000496	HP:0000486	Strabismus	2	PTCH2 CL E G H	8643	9586	OMIM:109400	Basal cell nevus syndrome			40
HP:0000496	HP:0000486	Strabismus	2	PTCH2 CL E G H	8643	9586	ORPHA:377	Gorlin syndrome	HP:0040283 - Occasional		40
HP:0000496	HP:0000486	Strabismus	2	PTEN CL E G H	5728	9588	ORPHA:101070	Bilateral frontoparietal polymicrogyria	HP:0040283 - Occasional		948
HP:0000496	HP:0000486	Strabismus	2	PTEN CL E G H	5728	9588	ORPHA:744	Proteus syndrome	HP:0040283 - Occasional		948
HP:0000496	HP:0000486	Strabismus	2	PTPN11 CL E G H	5781	9644	OMIM:151100	Leopard syndrome 1	.		291
HP:0000496	HP:0000486	Strabismus	2	PTPN11 CL E G H	5781	9644	ORPHA:648	Noonan syndrome	HP:0040282 - Frequent		291
HP:0000496	HP:0000639	Nystagmus	2	PTPN11 CL E G H	5781	9644	ORPHA:648	Noonan syndrome	HP:0040283 - Occasional		291
HP:0000496	HP:0000639	Nystagmus	2	PTPN22 CL E G H	26191	9652	ORPHA:397	Giant cell arteritis	HP:0040283 - Occasional		3
HP:0000496	HP:0000486	Strabismus	2	PTRH2 CL E G H	51651	24265	ORPHA:456312	Infantile multisystem neurologic-endocrine-pancreatic disease			6
HP:0000496	HP:0000486	Strabismus	2	PTRH2 CL E G H	51651	24265	OMIM:616263	Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset			6
HP:0000496	HP:0000486	Strabismus	2	PUF60 CL E G H	22827	17042	ORPHA:508488	8q24.3 microdeletion syndrome	HP:0040283 - Occasional		19
HP:0000496	HP:0000486	Strabismus	2	PUF60 CL E G H	22827	17042	ORPHA:508498	Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome	HP:0040283 - Occasional		19
HP:0000496	HP:0000486	Strabismus	2	PURA CL E G H	5813	9701	OMIM:616158	Mental retardation, autosomal dominant 31	.		53
HP:0000496	HP:0000639	Nystagmus	2	PURA CL E G H	5813	9701	OMIM:616158	Mental retardation, autosomal dominant 31	.		53
HP:0000496	HP:0000486	Strabismus	2	PUS3 CL E G H	83480	25461	OMIM:617051	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 55; MRT55			1
HP:0000496	HP:0000486	Strabismus	2	PUS3 CL E G H	83480	25461	ORPHA:488627	Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome	HP:0040283 - Occasional		1
HP:0000496	HP:0000639	Nystagmus	2	PUS3 CL E G H	83480	25461	ORPHA:488627	Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome	HP:0040283 - Occasional		1
HP:0000496	HP:0000486	Strabismus	2	PUS7 CL E G H	54517	26033	OMIM:618342	Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature
HP:0000496	HP:0000486	Strabismus	2	PWAR1 CL E G H	145624	30089	OMIM:176270	Prader-Willi syndrome
HP:0000496	HP:0000486	Strabismus	2	PWRN1 CL E G H	791114	33235	OMIM:176270	Prader-Willi syndrome
HP:0000496	HP:0000639	Nystagmus	2	PYCR2 CL E G H	29920	30262	OMIM:616420	Leukodystrophy, hypomyelinating, 10	HP:0040283 - Occasional		11
HP:0000496	HP:0000486	Strabismus	2	PYCR2 CL E G H	29920	30262	ORPHA:481152	PYCR2-related microcephaly-progressive leukoencephalopathy			11
HP:0000496	HP:0000639	Nystagmus	2	PYCR2 CL E G H	29920	30262	ORPHA:481152	PYCR2-related microcephaly-progressive leukoencephalopathy	HP:0040283 - Occasional		11
HP:0000496	HP:0000486	Strabismus	2	PYROXD1 CL E G H	79912	26162	OMIM:617258	MYOPATHY, MYOFIBRILLAR, 8; MFM8			5
HP:0000496	HP:0000486	Strabismus	2	RAB11B CL E G H	9230	9761	OMIM:617807	Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter	.
HP:0000496	HP:0000639	Nystagmus	2	RAB11B CL E G H	9230	9761	OMIM:617807	Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter	.
HP:0000496	HP:0000639	Nystagmus	2	RAB18 CL E G H	22931	14244	OMIM:614222	Warburg micro syndrome 3	.		85
HP:0000496	HP:0000486	Strabismus	2	RAB39B CL E G H	116442	16499	ORPHA:2379	Early-onset parkinsonism-intellectual disability syndrome	HP:0040282 - Frequent		34
HP:0000496	HP:0000486	Strabismus	2	RAB3GAP2 CL E G H	25782	17168	OMIM:212720	Martsolf syndrome 1			135
HP:0000496	HP:0000486	Strabismus	2	RAD21 CL E G H	5885	9811	ORPHA:199	Cornelia de Lange syndrome	HP:0040283 - Occasional		25
HP:0000496	HP:0000639	Nystagmus	2	RAD21 CL E G H	5885	9811	ORPHA:199	Cornelia de Lange syndrome	HP:0040283 - Occasional		25
HP:0000496	HP:0000486	Strabismus	2	RAD51 CL E G H	5888	9817	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		9
HP:0000496	HP:0000639	Nystagmus	2	RAD51 CL E G H	5888	9817	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		9
HP:0000496	HP:0000486	Strabismus	2	RAD51C CL E G H	5889	9820	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		391
HP:0000496	HP:0000639	Nystagmus	2	RAD51C CL E G H	5889	9820	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		391
HP:0000496	HP:0000486	Strabismus	2	RAF1 CL E G H	5894	9829	ORPHA:648	Noonan syndrome	HP:0040282 - Frequent		212
HP:0000496	HP:0000639	Nystagmus	2	RAF1 CL E G H	5894	9829	ORPHA:648	Noonan syndrome	HP:0040283 - Occasional		212
HP:0000496	HP:0000486	Strabismus	2	RAI1 CL E G H	10743	9834	ORPHA:477817	PMP22-RAI1 contiguous gene duplication syndrome	HP:0040283 - Occasional		150
HP:0000496	HP:0000486	Strabismus	2	RAI1 CL E G H	10743	9834	ORPHA:819	Smith-Magenis syndrome	HP:0040282 - Frequent		150
HP:0000496	HP:0000639	Nystagmus	2	RARS1 CL E G H	5917	9870	OMIM:616140	Leukodystrophy, hypomyelinating, 9	.
HP:0000496	HP:0000639	Nystagmus	2	RARS1 CL E G H	5917	9870	ORPHA:438114	RARS-related autosomal recessive hypomyelinating leukodystrophy	HP:0040282 - Frequent
HP:0000496	HP:0007772	Impaired smooth pursuit	2	RARS1 CL E G H	5917	9870	ORPHA:438114	RARS-related autosomal recessive hypomyelinating leukodystrophy
HP:0000496	HP:0000486	Strabismus	2	RASA2 CL E G H	5922	9872	ORPHA:648	Noonan syndrome	HP:0040282 - Frequent		3
HP:0000496	HP:0000639	Nystagmus	2	RASA2 CL E G H	5922	9872	ORPHA:648	Noonan syndrome	HP:0040283 - Occasional		3
HP:0000496	HP:0000486	Strabismus	2	RAX CL E G H	30062	18662	ORPHA:35612	Nanophthalmos	HP:0040281 - Very frequent		43
HP:0000496	HP:0000486	Strabismus	2	RBL2 CL E G H	5934	9894	OMIM:619690	BRUNET-WAGNER NEURODEVELOPMENTAL SYNDROME; BRUWAG
HP:0000496	HP:0000639	Nystagmus	2	RBL2 CL E G H	5934	9894	OMIM:619690	BRUNET-WAGNER NEURODEVELOPMENTAL SYNDROME; BRUWAG
HP:0000496	HP:0000486	Strabismus	2	RBM8A CL E G H	9939	9905	OMIM:274000	Thrombocytopenia-absent radius syndrome			10
HP:0000496	HP:0000602	Ophthalmoplegia	2	RBP3 CL E G H	5949	9921	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		108
HP:0000496	HP:0000639	Nystagmus	2	RBP3 CL E G H	5949	9921	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		108
HP:0000496	HP:0000486	Strabismus	2	RBPJ CL E G H	3516	5724	ORPHA:974	Adams-Oliver syndrome	HP:0040282 - Frequent		3
HP:0000496	HP:0000639	Nystagmus	2	RD3 CL E G H	343035	19689	ORPHA:65	Leber congenital amaurosis	HP:0040282 - Frequent		95
HP:0000496	HP:0000639	Nystagmus	2	RD3 CL E G H	343035	19689	OMIM:610612	Leber congenital amaurosis 12	.		95
HP:0000496	HP:0000639	Nystagmus	2	RDH12 CL E G H	145226	19977	ORPHA:65	Leber congenital amaurosis	HP:0040282 - Frequent		45
HP:0000496	HP:0000602	Ophthalmoplegia	2	RDH12 CL E G H	145226	19977	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		45
HP:0000496	HP:0000639	Nystagmus	2	RDH12 CL E G H	145226	19977	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		45
HP:0000496	HP:0000486	Strabismus	2	RECQL4 CL E G H	9401	9949	OMIM:218600	Baller-Gerold syndrome	.		445
HP:0000496	HP:0000639	Nystagmus	2	RECQL4 CL E G H	9401	9949	ORPHA:1225	Baller-Gerold syndrome	HP:0040283 - Occasional		445
HP:0000496	HP:0000486	Strabismus	2	RECQL4 CL E G H	9401	9949	OMIM:268400	ROTHMUND-THOMSON SYNDROME; RTS			445
HP:0000496	HP:0000602	Ophthalmoplegia	2	REEP6 CL E G H	92840	30078	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		5
HP:0000496	HP:0000639	Nystagmus	2	REEP6 CL E G H	92840	30078	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		5
HP:0000496	HP:0000639	Nystagmus	2	REPS1 CL E G H	85021	15578	OMIM:617916	Neurodegeneration with brain iron accumulation 7	.
HP:0000496	HP:0000486	Strabismus	2	RERE CL E G H	473	9965	ORPHA:1606	1p36 deletion syndrome	HP:0040282 - Frequent		16
HP:0000496	HP:0000639	Nystagmus	2	RERE CL E G H	473	9965	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		16
HP:0000496	HP:0000486	Strabismus	2	RERE CL E G H	473	9965	OMIM:616975	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart			16
HP:0000496	HP:0000486	Strabismus	2	RERE CL E G H	473	9965	ORPHA:494344	RERE-related neurodevelopmental syndrome	HP:0040283 - Occasional		16
HP:0000496	HP:0000486	Strabismus	2	RET CL E G H	5979	9967	ORPHA:99803	Haddad syndrome	HP:0040281 - Very frequent		572
HP:0000496	HP:0000486	Strabismus	2	REV3L CL E G H	5980	9968	ORPHA:570	Moebius syndrome	HP:0040281 - Very frequent		3
HP:0000496	HP:0000602	Ophthalmoplegia	2	REV3L CL E G H	5980	9968	ORPHA:570	Moebius syndrome	HP:0040281 - Very frequent		3
HP:0000496	HP:0000639	Nystagmus	2	RFC1 CL E G H	5981	9969	OMIM:614575	Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome
HP:0000496	HP:0007772	Impaired smooth pursuit	2	RFC1 CL E G H	5981	9969	OMIM:614575	Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome
HP:0000496	HP:0000486	Strabismus	2	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0000496	HP:0000639	Nystagmus	2	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome
HP:0000496	HP:0000486	Strabismus	2	RFWD3 CL E G H	55159	25539	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional
HP:0000496	HP:0000639	Nystagmus	2	RFWD3 CL E G H	55159	25539	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional
HP:0000496	HP:0000602	Ophthalmoplegia	2	RGR CL E G H	5995	9990	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		28
HP:0000496	HP:0000639	Nystagmus	2	RGR CL E G H	5995	9990	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		28
HP:0000496	HP:0000486	Strabismus	2	RHO CL E G H	6010	10012	ORPHA:215	Congenital stationary night blindness	HP:0040282 - Frequent		107
HP:0000496	HP:0000639	Nystagmus	2	RHO CL E G H	6010	10012	ORPHA:215	Congenital stationary night blindness	HP:0040282 - Frequent		107
HP:0000496	HP:0000602	Ophthalmoplegia	2	RHO CL E G H	6010	10012	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		107
HP:0000496	HP:0000639	Nystagmus	2	RHO CL E G H	6010	10012	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		107
HP:0000496	HP:0000486	Strabismus	2	RHOA CL E G H	387	667	OMIM:618727	ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES; EDFAOB			8
HP:0000496	HP:0000639	Nystagmus	2	RHOA CL E G H	387	667	OMIM:618727	ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES; EDFAOB			8
HP:0000496	HP:0000486	Strabismus	2	RIC1 CL E G H	57589	17686	OMIM:618761	CATIFA SYNDROME; CATIFA
HP:0000496	HP:0000602	Ophthalmoplegia	2	RILPL1 CL E G H	353116	26814	OMIM:619790	OCULOPHARYNGODISTAL MYOPATHY 4; OPDM4
HP:0000496	HP:0000639	Nystagmus	2	RIMS2 CL E G H	9699	17283	OMIM:618970	CONE-ROD SYNAPTIC DISORDER SYNDROME, CONGENITAL NONPROGRESSIVE; CRSDS			2
HP:0000496	HP:0000486	Strabismus	2	RIT1 CL E G H	6016	10023	ORPHA:648	Noonan syndrome	HP:0040282 - Frequent		39
HP:0000496	HP:0000639	Nystagmus	2	RIT1 CL E G H	6016	10023	ORPHA:648	Noonan syndrome	HP:0040283 - Occasional		39
HP:0000496	HP:0000602	Ophthalmoplegia	2	RLBP1 CL E G H	6017	10024	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		47
HP:0000496	HP:0000639	Nystagmus	2	RLBP1 CL E G H	6017	10024	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		47
HP:0000496	HP:0000486	Strabismus	2	RMRP CL E G H	6023	10031	ORPHA:175	Cartilage-hair hypoplasia	HP:0040281 - Very frequent		37
HP:0000496	HP:0000486	Strabismus	2	RNASEH1 CL E G H	246243	18466	ORPHA:329336	Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy			3
HP:0000496	HP:0000602	Ophthalmoplegia	2	RNASEH1 CL E G H	246243	18466	ORPHA:329336	Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy			3
HP:0000496	HP:0000602	Ophthalmoplegia	2	RNASEH1 CL E G H	246243	18466	OMIM:616479	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2			3
HP:0000496	HP:0000639	Nystagmus	2	RNASEH2A CL E G H	10535	18518	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional		33
HP:0000496	HP:0000639	Nystagmus	2	RNASEH2B CL E G H	79621	25671	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional		34
HP:0000496	HP:0000639	Nystagmus	2	RNASEH2C CL E G H	84153	24116	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional		60
HP:0000496	HP:0000639	Nystagmus	2	RNASEH2C CL E G H	84153	24116	OMIM:610329	Aicardi-Goutieres syndrome 3	.		60
HP:0000496	HP:0000639	Nystagmus	2	RNASET2 CL E G H	8635	21686	OMIM:612951	Leukoencephalopathy, cystic, without megalencephaly	HP:0040283 - Occasional		37
HP:0000496	HP:0000486	Strabismus	2	RNF113A CL E G H	7737	12974	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		3
HP:0000496	HP:0000639	Nystagmus	2	RNF113A CL E G H	7737	12974	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		3
HP:0000496	HP:0025405	Visual fixation instability	2	RNF13 CL E G H	11342	10057	ORPHA:544503	RNF13-related severe early-onset epileptic encephalopathy	HP:0040282 - Frequent
HP:0000496	HP:0000486	Strabismus	2	RNF135 CL E G H	84282	21158	ORPHA:137634	Overgrowth-macrocephaly-facial dysmorphism syndrome	HP:0040283 - Occasional		11
HP:0000496	HP:0001152	Saccadic smooth pursuit	2	RNF170 CL E G H	81790	25358	OMIM:619686	SPASTIC PARAPLEGIA 85, AUTOSOMAL RECESSIVE; SPG85			3
HP:0000496	HP:0000486	Strabismus	2	RNF2 CL E G H	6045	10061	OMIM:619460	LUO-SCHOCH-YAMAMOTO SYNDROME; LUSYAM
HP:0000496	HP:0000639	Nystagmus	2	RNF216 CL E G H	54476	21698	ORPHA:1173	Cerebellar ataxia-hypogonadism syndrome	HP:0040281 - Very frequent		10
HP:0000496	HP:0000639	Nystagmus	2	RNU12 CL E G H	267010	19380	ORPHA:512260	Congenital cerebellar ataxia due to RNU12 mutation	HP:0040283 - Occasional
HP:0000496	HP:0000639	Nystagmus	2	RNU4ATAC CL E G H	100151683	34016	OMIM:226960	EPIPHYSEAL DYSPLASIA, MICROCEPHALY, AND NYSTAGMUS			15
HP:0000496	HP:0000639	Nystagmus	2	RNU4ATAC CL E G H	100151683	34016	ORPHA:1824	Lowry-Wood syndrome	HP:0040282 - Frequent		15
HP:0000496	HP:0000639	Nystagmus	2	RNU7-1 CL E G H	100147744	34033	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional
HP:0000496	HP:0000639	Nystagmus	2	RNU7-1 CL E G H	100147744	34033	OMIM:619487	AICARDI-GOUTIERES SYNDROME 9; AGS9
HP:0000496	HP:0000486	Strabismus	2	ROBO3 CL E G H	64221	13433	OMIM:607313	Gaze palsy, familial horizontal, with progressive scoliosis, 1			90
HP:0000496	HP:0000602	Ophthalmoplegia	2	ROBO3 CL E G H	64221	13433	OMIM:607313	Gaze palsy, familial horizontal, with progressive scoliosis, 1			90
HP:0000496	HP:0000605	Supranuclear gaze palsy	2	ROBO3 CL E G H	64221	13433	OMIM:607313	Gaze palsy, familial horizontal, with progressive scoliosis, 1			90
HP:0000496	HP:0000634	Impaired ocular abduction	2	ROBO3 CL E G H	64221	13433	OMIM:607313	Gaze palsy, familial horizontal, with progressive scoliosis, 1			90
HP:0000496	HP:0000639	Nystagmus	2	ROBO3 CL E G H	64221	13433	OMIM:607313	Gaze palsy, familial horizontal, with progressive scoliosis, 1			90
HP:0000496	HP:0000605	Supranuclear gaze palsy	2	ROBO3 CL E G H	64221	13433	ORPHA:2744	Horizontal gaze palsy with progressive scoliosis			90
HP:0000496	HP:0000639	Nystagmus	2	ROBO3 CL E G H	64221	13433	ORPHA:2744	Horizontal gaze palsy with progressive scoliosis	HP:0040282 - Frequent		90
HP:0000496	HP:0000602	Ophthalmoplegia	2	ROM1 CL E G H	6094	10254	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		38
HP:0000496	HP:0000639	Nystagmus	2	ROM1 CL E G H	6094	10254	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		38
HP:0000496	HP:0000486	Strabismus	2	ROR2 CL E G H	4920	10257	ORPHA:1507	Autosomal recessive Robinow syndrome	HP:0040283 - Occasional		120
HP:0000496	HP:0000486	Strabismus	2	RORA CL E G H	6095	10258	OMIM:618060	INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT EPILEPSY OR CEREBELLAR ATAXIA; IDDECA			1
HP:0000496	HP:0000639	Nystagmus	2	RORA CL E G H	6095	10258	OMIM:618060	INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT EPILEPSY OR CEREBELLAR ATAXIA; IDDECA			1
HP:0000496	HP:0000602	Ophthalmoplegia	2	RP1 CL E G H	6101	10263	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		111
HP:0000496	HP:0000639	Nystagmus	2	RP1 CL E G H	6101	10263	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		111
HP:0000496	HP:0000602	Ophthalmoplegia	2	RP1L1 CL E G H	94137	15946	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		284
HP:0000496	HP:0000639	Nystagmus	2	RP1L1 CL E G H	94137	15946	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		284
HP:0000496	HP:0000486	Strabismus	2	RP1L1 CL E G H	94137	15946	OMIM:618826	RETINITIS PIGMENTOSA 88; RP88			284
HP:0000496	HP:0000602	Ophthalmoplegia	2	RP2 CL E G H	6102	10274	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		45
HP:0000496	HP:0000639	Nystagmus	2	RP2 CL E G H	6102	10274	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		45
HP:0000496	HP:0000602	Ophthalmoplegia	2	RP9 CL E G H	6100	10288	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		14
HP:0000496	HP:0000639	Nystagmus	2	RP9 CL E G H	6100	10288	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		14
HP:0000496	HP:0000639	Nystagmus	2	RPE65 CL E G H	6121	10294	ORPHA:65	Leber congenital amaurosis	HP:0040282 - Frequent		129
HP:0000496	HP:0000639	Nystagmus	2	RPE65 CL E G H	6121	10294	OMIM:204100	Leber congenital amaurosis, type II			129
HP:0000496	HP:0000602	Ophthalmoplegia	2	RPE65 CL E G H	6121	10294	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		129
HP:0000496	HP:0000639	Nystagmus	2	RPE65 CL E G H	6121	10294	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		129
HP:0000496	HP:0000639	Nystagmus	2	RPE65 CL E G H	6121	10294	OMIM:613794	Retinitis pigmentosa 20	.		129
HP:0000496	HP:0000486	Strabismus	2	RPE65 CL E G H	6121	10294	ORPHA:364055	Severe early-childhood-onset retinal dystrophy			129
HP:0000496	HP:0000639	Nystagmus	2	RPE65 CL E G H	6121	10294	ORPHA:364055	Severe early-childhood-onset retinal dystrophy	HP:0040282 - Frequent		129
HP:0000496	HP:0000639	Nystagmus	2	RPGR CL E G H	6103	10295	ORPHA:49382	Achromatopsia			200
HP:0000496	HP:0025549	Eccentric visual fixation	2	RPGR CL E G H	6103	10295	ORPHA:49382	Achromatopsia	HP:0040283 - Occasional		200
HP:0000496	HP:0000639	Nystagmus	2	RPGR CL E G H	6103	10295	OMIM:304020	Cone-rod dystrophy, X-linked, 1	.		200
HP:0000496	HP:0000602	Ophthalmoplegia	2	RPGR CL E G H	6103	10295	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		200
HP:0000496	HP:0000639	Nystagmus	2	RPGR CL E G H	6103	10295	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		200
HP:0000496	HP:0000639	Nystagmus	2	RPGRIP1 CL E G H	57096	13436	ORPHA:65	Leber congenital amaurosis	HP:0040282 - Frequent		109
HP:0000496	HP:0000639	Nystagmus	2	RPGRIP1 CL E G H	57096	13436	OMIM:613826	Leber congenital amaurosis 6			109
HP:0000496	HP:0000486	Strabismus	2	RPGRIP1L CL E G H	23322	29168	OMIM:619113	COACH SYNDROME 3; COACH3			167
HP:0000496	HP:0000639	Nystagmus	2	RPGRIP1L CL E G H	23322	29168	OMIM:611560	Joubert syndrome 7	.		167
HP:0000496	HP:0000486	Strabismus	2	RPGRIP1L CL E G H	23322	29168	ORPHA:1454	Joubert syndrome with hepatic defect	HP:0040283 - Occasional		167
HP:0000496	HP:0000639	Nystagmus	2	RPGRIP1L CL E G H	23322	29168	ORPHA:1454	Joubert syndrome with hepatic defect	HP:0040282 - Frequent		167
HP:0000496	HP:0000486	Strabismus	2	RPGRIP1L CL E G H	23322	29168	ORPHA:220497	Joubert syndrome with renal defect	HP:0040283 - Occasional		167
HP:0000496	HP:0000639	Nystagmus	2	RPGRIP1L CL E G H	23322	29168	ORPHA:220497	Joubert syndrome with renal defect	HP:0040282 - Frequent		167
HP:0000496	HP:0000639	Nystagmus	2	RPIA CL E G H	22934	10297	OMIM:608611	Ribose 5-phosphate isomerase deficiency	.		18
HP:0000496	HP:0000486	Strabismus	2	RPL10 CL E G H	6134	10298	ORPHA:459070	X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome			10
HP:0000496	HP:0000486	Strabismus	2	RPL11 CL E G H	6135	10301	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare		22
HP:0000496	HP:0000486	Strabismus	2	RPL15 CL E G H	6138	10306	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare		3
HP:0000496	HP:0000486	Strabismus	2	RPL18 CL E G H	6141	10310	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare
HP:0000496	HP:0000486	Strabismus	2	RPL26 CL E G H	6154	10327	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare		3
HP:0000496	HP:0000486	Strabismus	2	RPL27 CL E G H	6155	10328	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare		1
HP:0000496	HP:0000486	Strabismus	2	RPL31 CL E G H	6160	10334	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare
HP:0000496	HP:0000486	Strabismus	2	RPL35 CL E G H	11224	10344	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare
HP:0000496	HP:0000486	Strabismus	2	RPL35A CL E G H	6165	10345	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare		11
HP:0000496	HP:0000486	Strabismus	2	RPL5 CL E G H	6125	10360	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare		40
HP:0000496	HP:0000486	Strabismus	2	RPS10 CL E G H	6204	10383	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare		26
HP:0000496	HP:0000486	Strabismus	2	RPS15A CL E G H	6210	10389	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare
HP:0000496	HP:0000486	Strabismus	2	RPS17 CL E G H	6218	10397	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare		5
HP:0000496	HP:0000486	Strabismus	2	RPS19 CL E G H	6223	10402	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare		42
HP:0000496	HP:0000486	Strabismus	2	RPS19 CL E G H	6223	10402	OMIM:105650	Diamond-Blackfan anemia 1	.		42
HP:0000496	HP:0000486	Strabismus	2	RPS20 CL E G H	6224	10405	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare		1
HP:0000496	HP:0000486	Strabismus	2	RPS24 CL E G H	6229	10411	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare		22
HP:0000496	HP:0000486	Strabismus	2	RPS26 CL E G H	6231	10414	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare		20
HP:0000496	HP:0000486	Strabismus	2	RPS27 CL E G H	6232	10416	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare		1
HP:0000496	HP:0000486	Strabismus	2	RPS28 CL E G H	6234	10418	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare		1
HP:0000496	HP:0000486	Strabismus	2	RPS29 CL E G H	6235	10419	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare		3
HP:0000496	HP:0000486	Strabismus	2	RPS6KA3 CL E G H	6197	10432	ORPHA:192	Coffin-Lowry syndrome	HP:0040283 - Occasional		65
HP:0000496	HP:0000486	Strabismus	2	RPS7 CL E G H	6201	10440	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare		20
HP:0000496	HP:0000486	Strabismus	2	RRAS CL E G H	6237	10447	ORPHA:648	Noonan syndrome	HP:0040282 - Frequent
HP:0000496	HP:0000639	Nystagmus	2	RRAS CL E G H	6237	10447	ORPHA:648	Noonan syndrome	HP:0040283 - Occasional
HP:0000496	HP:0000486	Strabismus	2	RRAS2 CL E G H	22800	17271	ORPHA:648	Noonan syndrome	HP:0040282 - Frequent		1
HP:0000496	HP:0000639	Nystagmus	2	RRAS2 CL E G H	22800	17271	ORPHA:648	Noonan syndrome	HP:0040283 - Occasional		1
HP:0000496	HP:0000486	Strabismus	2	RRAS2 CL E G H	22800	17271	OMIM:618624	NOONAN SYNDROME 12; NS12			1
HP:0000496	HP:0000486	Strabismus	2	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional
HP:0000496	HP:0000486	Strabismus	2	RRM2B CL E G H	50484	17296	ORPHA:329336	Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy			125
HP:0000496	HP:0000602	Ophthalmoplegia	2	RRM2B CL E G H	50484	17296	ORPHA:329336	Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy			125
HP:0000496	HP:0000602	Ophthalmoplegia	2	RRM2B CL E G H	50484	17296	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040282 - Frequent		125
HP:0000496	HP:0000602	Ophthalmoplegia	2	RRM2B CL E G H	50484	17296	ORPHA:480	Kearns-Sayre syndrome			125
HP:0000496	HP:0000602	Ophthalmoplegia	2	RRM2B CL E G H	50484	17296	OMIM:612075	Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy)			125
HP:0000496	HP:0000602	Ophthalmoplegia	2	RRM2B CL E G H	50484	17296	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy			125
HP:0000496	HP:0000602	Ophthalmoplegia	2	RRM2B CL E G H	50484	17296	OMIM:613077	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5			125
HP:0000496	HP:0000486	Strabismus	2	RSPRY1 CL E G H	89970	29420	ORPHA:457395	Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome	HP:0040283 - Occasional		2
HP:0000496	HP:0000486	Strabismus	2	RSPRY1 CL E G H	89970	29420	OMIM:616723	Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type	.		2
HP:0000496	HP:0000486	Strabismus	2	RTL1 CL E G H	388015	14665	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion
HP:0000496	HP:0000639	Nystagmus	2	RTN4IP1 CL E G H	84816	18647	OMIM:616732	OPTIC ATROPHY 10 WITH OR WITHOUT ATAXIA, MENTAL RETARDATION, AND SEIZURES; OPA10			2
HP:0000496	HP:0000639	Nystagmus	2	RUBCN CL E G H	9711	28991	ORPHA:404499	Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency	HP:0040283 - Occasional		9
HP:0000496	HP:0001152	Saccadic smooth pursuit	2	RUBCN CL E G H	9711	28991	ORPHA:404499	Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency	HP:0040282 - Frequent		9
HP:0000496	HP:0000639	Nystagmus	2	RUBCN CL E G H	9711	28991	OMIM:615705	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 15; SCAR15			9
HP:0000496	HP:0001152	Saccadic smooth pursuit	2	RUBCN CL E G H	9711	28991	OMIM:615705	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 15; SCAR15			9
HP:0000496	HP:0000602	Ophthalmoplegia	2	RYR1 CL E G H	6261	10483	ORPHA:169189	Autosomal dominant centronuclear myopathy			1200
HP:0000496	HP:0000602	Ophthalmoplegia	2	RYR1 CL E G H	6261	10483	ORPHA:169186	Autosomal recessive centronuclear myopathy	HP:0040283 - Occasional		1200
HP:0000496	HP:0000602	Ophthalmoplegia	2	RYR1 CL E G H	6261	10483	ORPHA:597	Central core disease	HP:0040283 - Occasional		1200
HP:0000496	HP:0000602	Ophthalmoplegia	2	RYR1 CL E G H	6261	10483	ORPHA:98905	Congenital multicore myopathy with external ophthalmoplegia			1200
HP:0000496	HP:0000602	Ophthalmoplegia	2	RYR1 CL E G H	6261	10483	ORPHA:424107	Congenital myopathy with myasthenic-like onset	HP:0040284 - Very rare		1200
HP:0000496	HP:0000602	Ophthalmoplegia	2	RYR1 CL E G H	6261	10483	OMIM:255320	Minicore myopathy with external ophthalmoplegia			1200
HP:0000496	HP:0000602	Ophthalmoplegia	2	RYR1 CL E G H	6261	10483	OMIM:255310	Myopathy, congenital, with fiber-type disproportion			1200
HP:0000496	HP:0000639	Nystagmus	2	SACS CL E G H	26278	10519	ORPHA:98	Autosomal recessive spastic ataxia of Charlevoix-Saguenay			309
HP:0000496	HP:0000639	Nystagmus	2	SACS CL E G H	26278	10519	OMIM:270550	Spastic ataxia, Charlevoix-Saguenay type			309
HP:0000496	HP:0007772	Impaired smooth pursuit	2	SACS CL E G H	26278	10519	OMIM:270550	Spastic ataxia, Charlevoix-Saguenay type	.		309
HP:0000496	HP:0000486	Strabismus	2	SAG CL E G H	6295	10521	ORPHA:215	Congenital stationary night blindness	HP:0040282 - Frequent		32
HP:0000496	HP:0000639	Nystagmus	2	SAG CL E G H	6295	10521	ORPHA:215	Congenital stationary night blindness	HP:0040282 - Frequent		32
HP:0000496	HP:0000486	Strabismus	2	SAG CL E G H	6295	10521	ORPHA:75382	Oguchi disease	HP:0040284 - Very rare		32
HP:0000496	HP:0000639	Nystagmus	2	SAG CL E G H	6295	10521	ORPHA:75382	Oguchi disease	HP:0040284 - Very rare		32
HP:0000496	HP:0000602	Ophthalmoplegia	2	SAG CL E G H	6295	10521	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		32
HP:0000496	HP:0000639	Nystagmus	2	SAG CL E G H	6295	10521	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		32
HP:0000496	HP:0000486	Strabismus	2	SALL1 CL E G H	6299	10524	ORPHA:857	Townes-Brocks syndrome	HP:0040283 - Occasional		124
HP:0000496	HP:0000486	Strabismus	2	SALL1 CL E G H	6299	10524	OMIM:107480	Townes-Brocks syndrome 1			124
HP:0000496	HP:0000486	Strabismus	2	SALL2 CL E G H	6297	10526	OMIM:216820	COLOBOMA, OCULAR, AUTOSOMAL RECESSIVE			1
HP:0000496	HP:0000639	Nystagmus	2	SALL2 CL E G H	6297	10526	OMIM:216820	COLOBOMA, OCULAR, AUTOSOMAL RECESSIVE			1
HP:0000496	HP:0000486	Strabismus	2	SALL4 CL E G H	57167	15924	ORPHA:959	Acro-renal-ocular syndrome	HP:0040282 - Frequent		86
HP:0000496	HP:0000639	Nystagmus	2	SALL4 CL E G H	57167	15924	ORPHA:959	Acro-renal-ocular syndrome	HP:0040283 - Occasional		86
HP:0000496	HP:0000486	Strabismus	2	SALL4 CL E G H	57167	15924	ORPHA:233	Duane retraction syndrome	HP:0040281 - Very frequent		86
HP:0000496	HP:0000639	Nystagmus	2	SALL4 CL E G H	57167	15924	ORPHA:233	Duane retraction syndrome	HP:0040283 - Occasional		86
HP:0000496	HP:0012246	Oculomotor nerve palsy	2	SALL4 CL E G H	57167	15924	ORPHA:233	Duane retraction syndrome	HP:0040281 - Very frequent		86
HP:0000496	HP:0000486	Strabismus	2	SALL4 CL E G H	57167	15924	OMIM:607323	Duane-Radial ray syndrome	.	HP:0003577 - Congenital onset	86
HP:0000496	HP:0000619	Impaired convergence	2	SALL4 CL E G H	57167	15924	OMIM:607323	Duane-Radial ray syndrome	.		86
HP:0000496	HP:0000634	Impaired ocular abduction	2	SALL4 CL E G H	57167	15924	OMIM:607323	Duane-Radial ray syndrome	.		86
HP:0000496	HP:0000486	Strabismus	2	SALL4 CL E G H	57167	15924	OMIM:147750	Ivic syndrome			86
HP:0000496	HP:0000486	Strabismus	2	SALL4 CL E G H	57167	15924	ORPHA:2307	IVIC syndrome	HP:0040281 - Very frequent		86
HP:0000496	HP:0000602	Ophthalmoplegia	2	SALL4 CL E G H	57167	15924	OMIM:147750	Ivic syndrome			86
HP:0000496	HP:0000639	Nystagmus	2	SAMD9L CL E G H	219285	1349	OMIM:159550	Ataxia-Pancytopenia syndrome	.		4
HP:0000496	HP:0000639	Nystagmus	2	SAMD9L CL E G H	219285	1349	ORPHA:2585	Ataxia-pancytopenia syndrome	HP:0040282 - Frequent		4
HP:0000496	HP:0000486	Strabismus	2	SAMD9L CL E G H	219285	1349	OMIM:619806	SPINOCEREBELLAR ATAXIA 49; SCA49			4
HP:0000496	HP:0000639	Nystagmus	2	SAMD9L CL E G H	219285	1349	OMIM:619806	SPINOCEREBELLAR ATAXIA 49; SCA49			4
HP:0000496	HP:0000639	Nystagmus	2	SAMHD1 CL E G H	25939	15925	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional		55
HP:0000496	HP:0000486	Strabismus	2	SARDH CL E G H	1757	10536	ORPHA:3129	Sarcosinemia	HP:0040283 - Occasional		4
HP:0000496	HP:0000486	Strabismus	2	SATB2 CL E G H	23314	21637	ORPHA:251019	2q32q33 microdeletion syndrome	HP:0040283 - Occasional		34
HP:0000496	HP:0000486	Strabismus	2	SATB2 CL E G H	23314	21637	ORPHA:251028	SATB2-associated syndrome due to a chromosomal rearrangement			34
HP:0000496	HP:0000486	Strabismus	2	SATB2 CL E G H	23314	21637	ORPHA:576283	SATB2-associated syndrome due to a pathogenic variant	HP:0040283 - Occasional		34
HP:0000496	HP:0000486	Strabismus	2	SBF1 CL E G H	6305	10542	OMIM:615284	Charcot-Marie-Tooth disease, type 4B3	HP:0040283 - Occasional		16
HP:0000496	HP:0000602	Ophthalmoplegia	2	SBF1 CL E G H	6305	10542	OMIM:615284	Charcot-Marie-Tooth disease, type 4B3	HP:0040283 - Occasional		16
HP:0000496	HP:0000639	Nystagmus	2	SCAPER CL E G H	49855	13081	ORPHA:110	Bardet-Biedl syndrome	HP:0040282 - Frequent
HP:0000496	HP:0000602	Ophthalmoplegia	2	SCAPER CL E G H	49855	13081	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent
HP:0000496	HP:0000639	Nystagmus	2	SCAPER CL E G H	49855	13081	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent
HP:0000496	HP:0000639	Nystagmus	2	SCN1A CL E G H	6323	10585	OMIM:619317	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 6B; DEE6B			1053
HP:0000496	HP:0000639	Nystagmus	2	SCN1A CL E G H	6323	10585	ORPHA:569	Familial or sporadic hemiplegic migraine			1053
HP:0000496	HP:0000486	Strabismus	2	SCN1B CL E G H	6324	10586	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare		126
HP:0000496	HP:0000486	Strabismus	2	SCN2A CL E G H	6326	10588	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare		427
HP:0000496	HP:0000639	Nystagmus	2	SCN2A CL E G H	6326	10588	OMIM:618924	EPISODIC ATAXIA, TYPE 9; EA9			427
HP:0000496	HP:0000639	Nystagmus	2	SCN3A CL E G H	6328	10590	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		70
HP:0000496	HP:0000602	Ophthalmoplegia	2	SCN4A CL E G H	6329	10591	ORPHA:99736	Acetazolamide-responsive myotonia	HP:0040283 - Occasional		263
HP:0000496	HP:0000602	Ophthalmoplegia	2	SCN4A CL E G H	6329	10591	OMIM:614198	Myasthenic syndrome, congenital, 16			263
HP:0000496	HP:0000486	Strabismus	2	SCN4A CL E G H	6329	10591	ORPHA:99734	Myotonia fluctuans	HP:0040284 - Very rare		263
HP:0000496	HP:0000602	Ophthalmoplegia	2	SCN4A CL E G H	6329	10591	ORPHA:99735	Myotonia permanens	HP:0040283 - Occasional		263
HP:0000496	HP:0000486	Strabismus	2	SCN8A CL E G H	6334	10596	OMIM:614306	Cognitive impairment with or without cerebellar ataxia			357
HP:0000496	HP:0000639	Nystagmus	2	SCN8A CL E G H	6334	10596	OMIM:614306	Cognitive impairment with or without cerebellar ataxia			357
HP:0000496	HP:0000639	Nystagmus	2	SCN8A CL E G H	6334	10596	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		357
HP:0000496	HP:0000486	Strabismus	2	SCNM1 CL E G H	79005	23136	OMIM:620107
HP:0000496	HP:0000486	Strabismus	2	SCO2 CL E G H	9997	10604	ORPHA:521411	Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect			40
HP:0000496	HP:0000486	Strabismus	2	SCO2 CL E G H	9997	10604	OMIM:604377	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1			40
HP:0000496	HP:0000639	Nystagmus	2	SCO2 CL E G H	9997	10604	OMIM:604377	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1			40
HP:0000496	HP:0000602	Ophthalmoplegia	2	SCO2 CL E G H	9997	10604	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040283 - Occasional		40
HP:0000496	HP:0000639	Nystagmus	2	SCO2 CL E G H	9997	10604	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040282 - Frequent		40
HP:0000496	HP:0000486	Strabismus	2	SCUBE3 CL E G H	222663	13655	OMIM:619184	SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES 2; SSFSC2			1
HP:0000496	HP:0000639	Nystagmus	2	SCUBE3 CL E G H	222663	13655	OMIM:619184	SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES 2; SSFSC2			1
HP:0000496	HP:0000641	Dysmetric saccades	2	SCYL1 CL E G H	57410	14372	ORPHA:466794	Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome	HP:0040282 - Frequent		5
HP:0000496	HP:0001152	Saccadic smooth pursuit	2	SCYL1 CL E G H	57410	14372	ORPHA:466794	Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome	HP:0040282 - Frequent		5
HP:0000496	HP:0000639	Nystagmus	2	SDCCAG8 CL E G H	10806	10671	ORPHA:110	Bardet-Biedl syndrome	HP:0040282 - Frequent		61
HP:0000496	HP:0000602	Ophthalmoplegia	2	SDHA CL E G H	6389	10680	ORPHA:3208	Isolated succinate-CoQ reductase deficiency			304
HP:0000496	HP:0000639	Nystagmus	2	SDHA CL E G H	6389	10680	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040284 - Very rare		304
HP:0000496	HP:0000486	Strabismus	2	SDHA CL E G H	6389	10680	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		304
HP:0000496	HP:0000602	Ophthalmoplegia	2	SDHA CL E G H	6389	10680	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		304
HP:0000496	HP:0000639	Nystagmus	2	SDHA CL E G H	6389	10680	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		304
HP:0000496	HP:0000602	Ophthalmoplegia	2	SDHA CL E G H	6389	10680	OMIM:252011	Mitochondrial complex II deficiency	.		304
HP:0000496	HP:0000639	Nystagmus	2	SDHA CL E G H	6389	10680	OMIM:252011	Mitochondrial complex II deficiency	.		304
HP:0000496	HP:0000639	Nystagmus	2	SDHA CL E G H	6389	10680	OMIM:619259	NEURODEGENERATION WITH ATAXIA AND LATE-ONSET OPTIC ATROPHY; NDAXOA			304
HP:0000496	HP:0000602	Ophthalmoplegia	2	SDHAF1 CL E G H	644096	33867	ORPHA:3208	Isolated succinate-CoQ reductase deficiency			16
HP:0000496	HP:0000639	Nystagmus	2	SDHAF1 CL E G H	644096	33867	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040284 - Very rare		16
HP:0000496	HP:0000602	Ophthalmoplegia	2	SDHB CL E G H	6390	10681	ORPHA:3208	Isolated succinate-CoQ reductase deficiency			237
HP:0000496	HP:0000639	Nystagmus	2	SDHB CL E G H	6390	10681	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040284 - Very rare		237
HP:0000496	HP:0000602	Ophthalmoplegia	2	SDHD CL E G H	6392	10683	ORPHA:3208	Isolated succinate-CoQ reductase deficiency			129
HP:0000496	HP:0000639	Nystagmus	2	SDHD CL E G H	6392	10683	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040284 - Very rare		129
HP:0000496	HP:0000639	Nystagmus	2	SDHD CL E G H	6392	10683	OMIM:619167	MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 3; MC2DN3			129
HP:0000496	HP:0000486	Strabismus	2	SEC23A CL E G H	10484	10701	OMIM:607812	Craniolenticulosutural dysplasia			2
HP:0000496	HP:0000486	Strabismus	2	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional
HP:0000496	HP:0000602	Ophthalmoplegia	2	SELENON CL E G H	57190	15999	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		144
HP:0000496	HP:0000602	Ophthalmoplegia	2	SELENON CL E G H	57190	15999	OMIM:255310	Myopathy, congenital, with fiber-type disproportion			144
HP:0000496	HP:0000639	Nystagmus	2	SEMA3A CL E G H	10371	10723	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional		14
HP:0000496	HP:0000486	Strabismus	2	SEMA3E CL E G H	9723	10727	ORPHA:138	CHARGE syndrome	HP:0040282 - Frequent		16
HP:0000496	HP:0000639	Nystagmus	2	SEMA3E CL E G H	9723	10727	ORPHA:138	CHARGE syndrome	HP:0040282 - Frequent		16
HP:0000496	HP:0000602	Ophthalmoplegia	2	SEMA4A CL E G H	64218	10729	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		48
HP:0000496	HP:0000639	Nystagmus	2	SEMA4A CL E G H	64218	10729	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		48
HP:0000496	HP:0000639	Nystagmus	2	SERPINI1 CL E G H	5274	8943	OMIM:604218	Encephalopathy, familial, with neuroserpin inclusion bodies	.		28
HP:0000496	HP:0000486	Strabismus	2	SET CL E G H	6418	10760	OMIM:618106	Mental retardation, autosomal dominant 58			1
HP:0000496	HP:0000486	Strabismus	2	SETBP1 CL E G H	26040	15573	OMIM:616078	Mental retardation, autosomal dominant 29			143
HP:0000496	HP:0000486	Strabismus	2	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome	HP:0040284 - Very rare		60
HP:0000496	HP:0000639	Nystagmus	2	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome	HP:0040284 - Very rare		60
HP:0000496	HP:0000486	Strabismus	2	SETD5 CL E G H	55209	25566	ORPHA:404440	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency	HP:0040283 - Occasional		43
HP:0000496	HP:0000486	Strabismus	2	SETD5 CL E G H	55209	25566	OMIM:615761	MENTAL RETARDATION, AUTOSOMAL DOMINANT 23; MRD23			43
HP:0000496	HP:0000486	Strabismus	2	SETX CL E G H	23064	445	ORPHA:64753	Spinocerebellar ataxia with axonal neuropathy type 2	HP:0040283 - Occasional		162
HP:0000496	HP:0000639	Nystagmus	2	SETX CL E G H	23064	445	ORPHA:64753	Spinocerebellar ataxia with axonal neuropathy type 2			162
HP:0000496	HP:0001152	Saccadic smooth pursuit	2	SETX CL E G H	23064	445	ORPHA:64753	Spinocerebellar ataxia with axonal neuropathy type 2	HP:0040282 - Frequent		162
HP:0000496	HP:0000486	Strabismus	2	SETX CL E G H	23064	445	OMIM:606002	Spinocerebellar ataxia, autosomal recessive 1			162
HP:0000496	HP:0000639	Nystagmus	2	SETX CL E G H	23064	445	OMIM:606002	Spinocerebellar ataxia, autosomal recessive 1			162
HP:0000496	HP:0001152	Saccadic smooth pursuit	2	SETX CL E G H	23064	445	OMIM:606002	Spinocerebellar ataxia, autosomal recessive 1	.		162
HP:0000496	HP:0000486	Strabismus	2	SF3B2 CL E G H	10992	10769	OMIM:164210	Hemifacial microsomia	.		2
HP:0000496	HP:0000486	Strabismus	2	SGPL1 CL E G H	8879	10817	OMIM:617575	Nephrotic syndrome, type 14	.		8
HP:0000496	HP:0000639	Nystagmus	2	SH3TC2 CL E G H	79628	29427	ORPHA:99949	Charcot-Marie-Tooth disease type 4C	HP:0040283 - Occasional		493
HP:0000496	HP:0000639	Nystagmus	2	SH3TC2 CL E G H	79628	29427	OMIM:601596	Charcot-Marie-Tooth disease, type 4C	.		493
HP:0000496	HP:0000486	Strabismus	2	SHANK3 CL E G H	85358	14294	ORPHA:48652	Monosomy 22q13.3	HP:0040283 - Occasional		53
HP:0000496	HP:0000486	Strabismus	2	SHANK3 CL E G H	85358	14294	OMIM:606232	Phelan-Mcdermid syndrome			53
HP:0000496	HP:0000486	Strabismus	2	SHH CL E G H	6469	10848	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional		67
HP:0000496	HP:0000486	Strabismus	2	SHMT2 CL E G H	6472	10852	OMIM:619121	NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES; NEDCASB
HP:0000496	HP:0000514	Slow saccadic eye movements	2	SHMT2 CL E G H	6472	10852	OMIM:619121	NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES; NEDCASB
HP:0000496	HP:0000486	Strabismus	2	SHOC2 CL E G H	8036	15454	OMIM:607721	Noonan syndrome-like with loose anagen hair 1			74
HP:0000496	HP:0000486	Strabismus	2	SHROOM4 CL E G H	57477	29215	ORPHA:85288	X-linked intellectual disability, Stocco Dos Santos type	HP:0040282 - Frequent		42
HP:0000496	HP:0000486	Strabismus	2	SIAH1 CL E G H	6477	10857	OMIM:619314	BURATTI-HAREL SYNDROME; BURHAS
HP:0000496	HP:0000605	Supranuclear gaze palsy	2	SIGMAR1 CL E G H	10280	8157	ORPHA:300605	Juvenile amyotrophic lateral sclerosis	HP:0040283 - Occasional		6
HP:0000496	HP:0000639	Nystagmus	2	SIGMAR1 CL E G H	10280	8157	ORPHA:300605	Juvenile amyotrophic lateral sclerosis	HP:0040283 - Occasional		6
HP:0000496	HP:0000486	Strabismus	2	SIK1 CL E G H	150094	11142	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare		11
HP:0000496	HP:0000486	Strabismus	2	SIL1 CL E G H	64374	24624	ORPHA:559	Marinesco-Sjögren syndrome	HP:0040281 - Very frequent		67
HP:0000496	HP:0000639	Nystagmus	2	SIL1 CL E G H	64374	24624	ORPHA:559	Marinesco-Sjögren syndrome	HP:0040282 - Frequent		67
HP:0000496	HP:0000486	Strabismus	2	SIL1 CL E G H	64374	24624	OMIM:248800	Marinesco-Sjogren syndrome	.		67
HP:0000496	HP:0000639	Nystagmus	2	SIL1 CL E G H	64374	24624	OMIM:248800	Marinesco-Sjogren syndrome	.		67
HP:0000496	HP:0000486	Strabismus	2	SIM1 CL E G H	6492	10882	ORPHA:171829	6q16 microdeletion syndrome	HP:0040282 - Frequent		40
HP:0000496	HP:0000486	Strabismus	2	SIM1 CL E G H	6492	10882	ORPHA:398079	SIM1-related Prader-Willi-like syndrome	HP:0040282 - Frequent		40
HP:0000496	HP:0000486	Strabismus	2	SIN3A CL E G H	25942	19353	ORPHA:94065	15q24 microdeletion syndrome	HP:0040283 - Occasional		9
HP:0000496	HP:0000639	Nystagmus	2	SIN3A CL E G H	25942	19353	ORPHA:94065	15q24 microdeletion syndrome	HP:0040283 - Occasional		9
HP:0000496	HP:0000486	Strabismus	2	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome			9
HP:0000496	HP:0000639	Nystagmus	2	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome			9
HP:0000496	HP:0000486	Strabismus	2	SIX3 CL E G H	6496	10889	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional		32
HP:0000496	HP:0000486	Strabismus	2	SIX6 CL E G H	4990	10892	ORPHA:35612	Nanophthalmos	HP:0040281 - Very frequent		20
HP:0000496	HP:0000639	Nystagmus	2	SIX6 CL E G H	4990	10892	OMIM:212550	Optic disc anomalies with retinal and/or macular dystrophy	.		20
HP:0000496	HP:0000486	Strabismus	2	SKI CL E G H	6497	10896	ORPHA:1606	1p36 deletion syndrome	HP:0040282 - Frequent		150
HP:0000496	HP:0000639	Nystagmus	2	SKI CL E G H	6497	10896	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		150
HP:0000496	HP:0000486	Strabismus	2	SKI CL E G H	6497	10896	OMIM:182212	Shprintzen-Goldberg craniosynostosis syndrome			150
HP:0000496	HP:0000486	Strabismus	2	SKI CL E G H	6497	10896	ORPHA:2462	Shprintzen-Goldberg syndrome	HP:0040282 - Frequent		150
HP:0000496	HP:0000486	Strabismus	2	SLC12A6 CL E G H	9990	10914	OMIM:218000	Agenesis of the corpus callosum with peripheral neuropathy			163
HP:0000496	HP:0000486	Strabismus	2	SLC12A6 CL E G H	9990	10914	ORPHA:1496	Corpus callosum agenesis-neuronopathy syndrome	HP:0040283 - Occasional		163
HP:0000496	HP:0000639	Nystagmus	2	SLC12A6 CL E G H	9990	10914	ORPHA:1496	Corpus callosum agenesis-neuronopathy syndrome	HP:0040283 - Occasional		163
HP:0000496	HP:0000639	Nystagmus	2	SLC13A5 CL E G H	284111	23089	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		73
HP:0000496	HP:0000639	Nystagmus	2	SLC16A2 CL E G H	6567	10923	ORPHA:59	Allan-Herndon-Dudley syndrome	HP:0040283 - Occasional		57
HP:0000496	HP:0000639	Nystagmus	2	SLC16A2 CL E G H	6567	10923	OMIM:300523	Allan-Herndon-Dudley syndrome			57
HP:0000496	HP:0000639	Nystagmus	2	SLC17A5 CL E G H	26503	10933	OMIM:269920	Infantile sialic acid storage disease	.		78
HP:0000496	HP:0000486	Strabismus	2	SLC17A5 CL E G H	26503	10933	OMIM:604369	Salla disease			78
HP:0000496	HP:0000639	Nystagmus	2	SLC17A5 CL E G H	26503	10933	OMIM:604369	Salla disease	.		78
HP:0000496	HP:0000602	Ophthalmoplegia	2	SLC18A3 CL E G H	6572	10936	OMIM:617239	Myasthenic syndrome, congenital, 21, presynaptic	.		2
HP:0000496	HP:0000639	Nystagmus	2	SLC18A3 CL E G H	6572	10936	OMIM:617239	Myasthenic syndrome, congenital, 21, presynaptic	.		2
HP:0000496	HP:0000486	Strabismus	2	SLC18A3 CL E G H	6572	10936	ORPHA:98914	Presynaptic congenital myasthenic syndromes			2
HP:0000496	HP:0000602	Ophthalmoplegia	2	SLC18A3 CL E G H	6572	10936	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent		2
HP:0000496	HP:0000639	Nystagmus	2	SLC18A3 CL E G H	6572	10936	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040284 - Very rare		2
HP:0000496	HP:0000639	Nystagmus	2	SLC19A2 CL E G H	10560	10938	OMIM:249270	Thiamine-Responsive megaloblastic anemia syndrome	.		55
HP:0000496	HP:0000486	Strabismus	2	SLC19A3 CL E G H	80704	16266	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		110
HP:0000496	HP:0000602	Ophthalmoplegia	2	SLC19A3 CL E G H	80704	16266	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		110
HP:0000496	HP:0000639	Nystagmus	2	SLC19A3 CL E G H	80704	16266	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		110
HP:0000496	HP:0000602	Ophthalmoplegia	2	SLC19A3 CL E G H	80704	16266	OMIM:607483	Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2)			110
HP:0000496	HP:0000639	Nystagmus	2	SLC19A3 CL E G H	80704	16266	OMIM:607483	Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2)	.		110
HP:0000496	HP:0000639	Nystagmus	2	SLC1A2 CL E G H	6506	10940	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		3
HP:0000496	HP:0000486	Strabismus	2	SLC1A3 CL E G H	6507	10941	ORPHA:2131	Alternating hemiplegia of childhood			63
HP:0000496	HP:0000639	Nystagmus	2	SLC1A3 CL E G H	6507	10941	ORPHA:2131	Alternating hemiplegia of childhood	HP:0040282 - Frequent		63
HP:0000496	HP:0031931	Ocular flutter	2	SLC1A3 CL E G H	6507	10941	ORPHA:2131	Alternating hemiplegia of childhood	HP:0040283 - Occasional		63
HP:0000496	HP:0032104	Saccadic oscillation	2	SLC1A3 CL E G H	6507	10941	ORPHA:2131	Alternating hemiplegia of childhood			63
HP:0000496	HP:0000639	Nystagmus	2	SLC1A3 CL E G H	6507	10941	ORPHA:209967	Episodic ataxia type 6			63
HP:0000496	HP:0000571	Hypometric saccades	2	SLC1A3 CL E G H	6507	10941	OMIM:612656	Episodic ataxia, type 6	HP:0040283 - Occasional		63
HP:0000496	HP:0000639	Nystagmus	2	SLC1A3 CL E G H	6507	10941	OMIM:612656	Episodic ataxia, type 6	HP:0040283 - Occasional		63
HP:0000496	HP:0000486	Strabismus	2	SLC24A1 CL E G H	9187	10975	ORPHA:215	Congenital stationary night blindness	HP:0040282 - Frequent		66
HP:0000496	HP:0000639	Nystagmus	2	SLC24A1 CL E G H	9187	10975	ORPHA:215	Congenital stationary night blindness	HP:0040282 - Frequent		66
HP:0000496	HP:0000639	Nystagmus	2	SLC24A5 CL E G H	283652	20611	OMIM:113750	Albinism, oculocutaneous, type VI	.		12
HP:0000496	HP:0000639	Nystagmus	2	SLC24A5 CL E G H	283652	20611	ORPHA:370097	Oculocutaneous albinism type 6	HP:0040281 - Very frequent		12
HP:0000496	HP:0000486	Strabismus	2	SLC25A1 CL E G H	6576	10979	ORPHA:98914	Presynaptic congenital myasthenic syndromes			28
HP:0000496	HP:0000602	Ophthalmoplegia	2	SLC25A1 CL E G H	6576	10979	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent		28
HP:0000496	HP:0000639	Nystagmus	2	SLC25A1 CL E G H	6576	10979	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040284 - Very rare		28
HP:0000496	HP:0000639	Nystagmus	2	SLC25A20 CL E G H	788	1421	ORPHA:159	Carnitine-acylcarnitine translocase deficiency	HP:0040283 - Occasional		40
HP:0000496	HP:0000486	Strabismus	2	SLC25A22 CL E G H	79751	19954	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare		166
HP:0000496	HP:0000639	Nystagmus	2	SLC25A24 CL E G H	29957	20662	ORPHA:2095	Gorlin-Chaudhry-Moss syndrome	HP:0040281 - Very frequent
HP:0000496	HP:0000486	Strabismus	2	SLC25A24 CL E G H	29957	20662	ORPHA:2963	Progeroid syndrome, Petty type	HP:0040281 - Very frequent
HP:0000496	HP:0000602	Ophthalmoplegia	2	SLC25A4 CL E G H	291	10990	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040282 - Frequent		68
HP:0000496	HP:0000486	Strabismus	2	SLC25A4 CL E G H	291	10990	ORPHA:1369	Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome	HP:0040281 - Very frequent		68
HP:0000496	HP:0000639	Nystagmus	2	SLC25A4 CL E G H	291	10990	ORPHA:1369	Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome	HP:0040281 - Very frequent		68
HP:0000496	HP:0000602	Ophthalmoplegia	2	SLC25A4 CL E G H	291	10990	OMIM:609283	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2			68
HP:0000496	HP:0000486	Strabismus	2	SLC25A46 CL E G H	91137	25198	OMIM:616505	Neuropathy, hereditary motor and sensory, type VIB			14
HP:0000496	HP:0000639	Nystagmus	2	SLC25A46 CL E G H	91137	25198	OMIM:616505	Neuropathy, hereditary motor and sensory, type VIB			14
HP:0000496	HP:0000486	Strabismus	2	SLC25A46 CL E G H	91137	25198	ORPHA:2254	Pontocerebellar hypoplasia type 1			14
HP:0000496	HP:0000639	Nystagmus	2	SLC25A46 CL E G H	91137	25198	ORPHA:2254	Pontocerebellar hypoplasia type 1			14
HP:0000496	HP:0000639	Nystagmus	2	SLC29A3 CL E G H	55315	23096	ORPHA:1782	Dysosteosclerosis	HP:0040281 - Very frequent		68
HP:0000496	HP:0007738	Uncontrolled eye movements	2	SLC2A1 CL E G H	6513	11005	ORPHA:64280	Childhood absence epilepsy	HP:0040283 - Occasional		255
HP:0000496	HP:0000486	Strabismus	2	SLC2A1 CL E G H	6513	11005	ORPHA:71277	Classic glucose transporter type 1 deficiency syndrome	HP:0040283 - Occasional		255
HP:0000496	HP:0007704	Paroxysmal involuntary eye movements	2	SLC2A1 CL E G H	6513	11005	ORPHA:71277	Classic glucose transporter type 1 deficiency syndrome	HP:0040282 - Frequent		255
HP:0000496	HP:0007704	Paroxysmal involuntary eye movements	2	SLC2A1 CL E G H	6513	11005	OMIM:606777	Glut1 deficiency syndrome 1	.		255
HP:0000496	HP:0000639	Nystagmus	2	SLC2A1 CL E G H	6513	11005	ORPHA:168577	Hereditary cryohydrocytosis with reduced stomatin	HP:0040283 - Occasional		255
HP:0000496	HP:0000639	Nystagmus	2	SLC2A1 CL E G H	6513	11005	OMIM:608885	Stomatin-Deficient cryohydrocytosis with neurologic defects	.		255
HP:0000496	HP:0000486	Strabismus	2	SLC2A10 CL E G H	81031	13444	ORPHA:3342	Arterial tortuosity syndrome	HP:0040283 - Occasional		178
HP:0000496	HP:0000486	Strabismus	2	SLC30A9 CL E G H	10463	1329	OMIM:617595	Birk-Landau-Perez syndrome			1
HP:0000496	HP:0000639	Nystagmus	2	SLC33A1 CL E G H	9197	95	OMIM:614482	Congenital cataracts, hearing loss, and neurodegeneration	.		48
HP:0000496	HP:0000639	Nystagmus	2	SLC35A1 CL E G H	10559	11021	OMIM:603585	Congenital disorder of glycosylation, type IIf	.		24
HP:0000496	HP:0000639	Nystagmus	2	SLC35A2 CL E G H	7355	11022	OMIM:300896	Congenital disorder of glycosylation, type IIm	.		27
HP:0000496	HP:0031931	Ocular flutter	2	SLC35A2 CL E G H	7355	11022	OMIM:300896	Congenital disorder of glycosylation, type IIm	.		27
HP:0000496	HP:0032104	Saccadic oscillation	2	SLC35A2 CL E G H	7355	11022	OMIM:300896	Congenital disorder of glycosylation, type IIm			27
HP:0000496	HP:0000486	Strabismus	2	SLC35A2 CL E G H	7355	11022	ORPHA:356961	SLC35A2-CDG	HP:0040283 - Occasional		27
HP:0000496	HP:0007704	Paroxysmal involuntary eye movements	2	SLC35A2 CL E G H	7355	11022	ORPHA:356961	SLC35A2-CDG	HP:0040283 - Occasional		27
HP:0000496	HP:0000486	Strabismus	2	SLC35C1 CL E G H	55343	20197	ORPHA:99843	Leukocyte adhesion deficiency type II			71
HP:0000496	HP:0000486	Strabismus	2	SLC37A4 CL E G H	2542	4061	OMIM:619525	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw; CDG2W			110
HP:0000496	HP:0000639	Nystagmus	2	SLC38A3 CL E G H	10991	18044	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional
HP:0000496	HP:0000486	Strabismus	2	SLC38A8 CL E G H	146167	32434	OMIM:609218	Foveal hypoplasia 2			13
HP:0000496	HP:0000639	Nystagmus	2	SLC38A8 CL E G H	146167	32434	OMIM:609218	Foveal hypoplasia 2	.		13
HP:0000496	HP:0000486	Strabismus	2	SLC39A8 CL E G H	64116	20862	OMIM:616721	Congenital disorder of glycosylation, type IIN	.		11
HP:0000496	HP:0000639	Nystagmus	2	SLC39A8 CL E G H	64116	20862	OMIM:616721	Congenital disorder of glycosylation, type IIN	.		11
HP:0000496	HP:0000486	Strabismus	2	SLC39A8 CL E G H	64116	20862	ORPHA:468699	SLC39A8-CDG	HP:0040282 - Frequent		11
HP:0000496	HP:0000639	Nystagmus	2	SLC39A8 CL E G H	64116	20862	ORPHA:468699	SLC39A8-CDG	HP:0040283 - Occasional		11
HP:0000496	HP:0025405	Visual fixation instability	2	SLC39A8 CL E G H	64116	20862	ORPHA:468699	SLC39A8-CDG	HP:0040282 - Frequent		11
HP:0000496	HP:0000486	Strabismus	2	SLC44A1 CL E G H	23446	18798	OMIM:618868	NEURODEGENERATION, CHILDHOOD-ONSET, WITH ATAXIA, TREMOR, OPTIC ATROPHY, AND COGNITIVE DECLINE; CONATOC			1
HP:0000496	HP:0000514	Slow saccadic eye movements	2	SLC44A1 CL E G H	23446	18798	OMIM:618868	NEURODEGENERATION, CHILDHOOD-ONSET, WITH ATAXIA, TREMOR, OPTIC ATROPHY, AND COGNITIVE DECLINE; CONATOC			1
HP:0000496	HP:0000639	Nystagmus	2	SLC45A2 CL E G H	51151	16472	OMIM:606574	ALBINISM, OCULOCUTANEOUS, TYPE IV; OCA4			42
HP:0000496	HP:0000639	Nystagmus	2	SLC45A2 CL E G H	51151	16472	ORPHA:79435	Oculocutaneous albinism type 4	HP:0040281 - Very frequent		42
HP:0000496	HP:0000639	Nystagmus	2	SLC4A11 CL E G H	83959	16438	ORPHA:293603	Congenital hereditary endothelial dystrophy type II	HP:0040283 - Occasional		66
HP:0000496	HP:0000639	Nystagmus	2	SLC4A11 CL E G H	83959	16438	ORPHA:1490	Corneal dystrophy-perceptive deafness syndrome	HP:0040282 - Frequent		66
HP:0000496	HP:0000639	Nystagmus	2	SLC52A2 CL E G H	79581	30224	OMIM:614707	Brown-Vialetto-Van laere syndrome 2	HP:0040283 - Occasional		47
HP:0000496	HP:0000602	Ophthalmoplegia	2	SLC52A3 CL E G H	113278	16187	OMIM:211530	Brown-Vialetto-Van laere syndrome 1			51
HP:0000496	HP:0000639	Nystagmus	2	SLC5A6 CL E G H	8884	11041	OMIM:618973	NEURODEGENERATION, INFANTILE-ONSET, BIOTIN-RESPONSIVE; NERIB
HP:0000496	HP:0000486	Strabismus	2	SLC5A7 CL E G H	60482	14025	ORPHA:98914	Presynaptic congenital myasthenic syndromes			9
HP:0000496	HP:0000602	Ophthalmoplegia	2	SLC5A7 CL E G H	60482	14025	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent		9
HP:0000496	HP:0000639	Nystagmus	2	SLC5A7 CL E G H	60482	14025	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040284 - Very rare		9
HP:0000496	HP:0000486	Strabismus	2	SLC6A19 CL E G H	340024	27960	ORPHA:2116	Hartnup disease	HP:0040282 - Frequent		12
HP:0000496	HP:0000639	Nystagmus	2	SLC6A19 CL E G H	340024	27960	ORPHA:2116	Hartnup disease	HP:0040282 - Frequent		12
HP:0000496	HP:0031931	Ocular flutter	2	SLC6A3 CL E G H	6531	11049	OMIM:613135	Parkinsonism-Dystonia, infantile, 1	.		13
HP:0000496	HP:0032104	Saccadic oscillation	2	SLC6A3 CL E G H	6531	11049	OMIM:613135	Parkinsonism-Dystonia, infantile, 1			13
HP:0000496	HP:0000639	Nystagmus	2	SLC6A6 CL E G H	6533	11052	OMIM:145350	Hypotaurinemic retinal degeneration and cardiomyopathy
HP:0000496	HP:0000486	Strabismus	2	SLC6A8 CL E G H	6535	11055	OMIM:300352	Creatine deficiency syndrome, X-linked			122
HP:0000496	HP:0000602	Ophthalmoplegia	2	SLC7A14 CL E G H	57709	29326	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		4
HP:0000496	HP:0000639	Nystagmus	2	SLC7A14 CL E G H	57709	29326	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		4
HP:0000496	HP:0000639	Nystagmus	2	SLC9A1 CL E G H	6548	11071	OMIM:616291	Lichtenstein-Knorr syndrome	HP:0040283 - Occasional		2
HP:0000496	HP:0000486	Strabismus	2	SLC9A6 CL E G H	10479	11079	ORPHA:85278	Christianson syndrome	HP:0040281 - Very frequent		93
HP:0000496	HP:0000602	Ophthalmoplegia	2	SLC9A6 CL E G H	10479	11079	ORPHA:85278	Christianson syndrome	HP:0040282 - Frequent		93
HP:0000496	HP:0000639	Nystagmus	2	SLC9A6 CL E G H	10479	11079	ORPHA:85278	Christianson syndrome	HP:0040282 - Frequent		93
HP:0000496	HP:0000486	Strabismus	2	SLC9A6 CL E G H	10479	11079	OMIM:300243	Mental retardation, x-linked syndromic, Christianson type			93
HP:0000496	HP:0000602	Ophthalmoplegia	2	SLC9A6 CL E G H	10479	11079	OMIM:300243	Mental retardation, x-linked syndromic, Christianson type	.		93
HP:0000496	HP:0000486	Strabismus	2	SLC9A7 CL E G H	84679	17123	OMIM:301024	Intellectual developmental disorder, X-linked 108	.
HP:0000496	HP:0000486	Strabismus	2	SLX4 CL E G H	84464	23845	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		274
HP:0000496	HP:0000639	Nystagmus	2	SLX4 CL E G H	84464	23845	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		274
HP:0000496	HP:0000486	Strabismus	2	SMAD3 CL E G H	4088	6769	OMIM:613795	LOEYS-DIETZ SYNDROME 3; LDS3			260
HP:0000496	HP:0000486	Strabismus	2	SMAD4 CL E G H	4089	6770	OMIM:139210	Myhre syndrome	.		504
HP:0000496	HP:0000486	Strabismus	2	SMARCA4 CL E G H	6597	11100	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent		617
HP:0000496	HP:0000486	Strabismus	2	SMARCB1 CL E G H	6598	11103	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent		87
HP:0000496	HP:0000602	Ophthalmoplegia	2	SMARCB1 CL E G H	6598	11103	ORPHA:2495	Meningioma	HP:0040283 - Occasional		87
HP:0000496	HP:0007715	Weak extraocular muscles	2	SMARCB1 CL E G H	6598	11103	ORPHA:2495	Meningioma	HP:0040283 - Occasional		87
HP:0000496	HP:0012246	Oculomotor nerve palsy	2	SMARCB1 CL E G H	6598	11103	ORPHA:2495	Meningioma	HP:0040283 - Occasional		87
HP:0000496	HP:0000486	Strabismus	2	SMARCC2 CL E G H	6601	11105	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent		1
HP:0000496	HP:0000486	Strabismus	2	SMARCD1 CL E G H	6602	11106	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent
HP:0000496	HP:0000486	Strabismus	2	SMARCE1 CL E G H	6605	11109	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent		47
HP:0000496	HP:0000602	Ophthalmoplegia	2	SMARCE1 CL E G H	6605	11109	ORPHA:2495	Meningioma	HP:0040283 - Occasional		47
HP:0000496	HP:0007715	Weak extraocular muscles	2	SMARCE1 CL E G H	6605	11109	ORPHA:2495	Meningioma	HP:0040283 - Occasional		47
HP:0000496	HP:0012246	Oculomotor nerve palsy	2	SMARCE1 CL E G H	6605	11109	ORPHA:2495	Meningioma	HP:0040283 - Occasional		47
HP:0000496	HP:0000486	Strabismus	2	SMC1A CL E G H	8243	11111	ORPHA:199	Cornelia de Lange syndrome	HP:0040283 - Occasional		135
HP:0000496	HP:0000639	Nystagmus	2	SMC1A CL E G H	8243	11111	ORPHA:199	Cornelia de Lange syndrome	HP:0040283 - Occasional		135
HP:0000496	HP:0000486	Strabismus	2	SMC3 CL E G H	9126	2468	ORPHA:199	Cornelia de Lange syndrome	HP:0040283 - Occasional		91
HP:0000496	HP:0000639	Nystagmus	2	SMC3 CL E G H	9126	2468	ORPHA:199	Cornelia de Lange syndrome	HP:0040283 - Occasional		91
HP:0000496	HP:0000486	Strabismus	2	SMG8 CL E G H	55181	25551	OMIM:619268	ALZAHRANI-KUWAHARA SYNDROME; ALKUS
HP:0000496	HP:0000486	Strabismus	2	SMG9 CL E G H	56006	25763	OMIM:619995				2
HP:0000496	HP:0000602	Ophthalmoplegia	2	SMO CL E G H	6608	11119	ORPHA:2495	Meningioma	HP:0040283 - Occasional		22
HP:0000496	HP:0007715	Weak extraocular muscles	2	SMO CL E G H	6608	11119	ORPHA:2495	Meningioma	HP:0040283 - Occasional		22
HP:0000496	HP:0012246	Oculomotor nerve palsy	2	SMO CL E G H	6608	11119	ORPHA:2495	Meningioma	HP:0040283 - Occasional		22
HP:0000496	HP:0000639	Nystagmus	2	SMPD1 CL E G H	6609	11120	ORPHA:77293	Niemann-Pick disease type B	HP:0040284 - Very rare		164
HP:0000496	HP:0000486	Strabismus	2	SNAP25 CL E G H	6616	11132	ORPHA:98914	Presynaptic congenital myasthenic syndromes			2
HP:0000496	HP:0000602	Ophthalmoplegia	2	SNAP25 CL E G H	6616	11132	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent		2
HP:0000496	HP:0000639	Nystagmus	2	SNAP25 CL E G H	6616	11132	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040284 - Very rare		2
HP:0000496	HP:0000514	Slow saccadic eye movements	2	SNCA CL E G H	6622	11138	ORPHA:171695	Parkinsonian-pyramidal syndrome	HP:0040282 - Frequent		65
HP:0000496	HP:0000486	Strabismus	2	SNIP1 CL E G H	79753	30587	OMIM:614501	Psychomotor retardation, epilepsy, and craniofacial dysmorphism	.		3
HP:0000496	HP:0000639	Nystagmus	2	SNIP1 CL E G H	79753	30587	OMIM:614501	Psychomotor retardation, epilepsy, and craniofacial dysmorphism			3
HP:0000496	HP:0000486	Strabismus	2	SNORD115-1 CL E G H	338433	33020	OMIM:176270	Prader-Willi syndrome
HP:0000496	HP:0000486	Strabismus	2	SNORD116-1 CL E G H	100033413	33067	OMIM:176270	Prader-Willi syndrome
HP:0000496	HP:0000602	Ophthalmoplegia	2	SNRNP200 CL E G H	23020	30859	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		83
HP:0000496	HP:0000639	Nystagmus	2	SNRNP200 CL E G H	23020	30859	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		83
HP:0000496	HP:0000486	Strabismus	2	SNRPN CL E G H	6638	11164	OMIM:105830	Angelman syndrome			37
HP:0000496	HP:0000639	Nystagmus	2	SNRPN CL E G H	6638	11164	OMIM:105830	Angelman syndrome			37
HP:0000496	HP:0000486	Strabismus	2	SNRPN CL E G H	6638	11164	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	HP:0040282 - Frequent		37
HP:0000496	HP:0000486	Strabismus	2	SNRPN CL E G H	6638	11164	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040282 - Frequent		37
HP:0000496	HP:0000486	Strabismus	2	SNRPN CL E G H	6638	11164	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040282 - Frequent		37
HP:0000496	HP:0000486	Strabismus	2	SNRPN CL E G H	6638	11164	ORPHA:177907	Prader-Willi syndrome due to translocation	HP:0040283 - Occasional		37
HP:0000496	HP:0000639	Nystagmus	2	SNX10 CL E G H	29887	14974	ORPHA:667	Autosomal recessive malignant osteopetrosis	HP:0040281 - Very frequent		2
HP:0000496	HP:0010543	Opsoclonus	2	SNX10 CL E G H	29887	14974	ORPHA:667	Autosomal recessive malignant osteopetrosis	HP:0040281 - Very frequent		2
HP:0000496	HP:0032104	Saccadic oscillation	2	SNX10 CL E G H	29887	14974	ORPHA:667	Autosomal recessive malignant osteopetrosis			2
HP:0000496	HP:0000639	Nystagmus	2	SNX14 CL E G H	57231	14977	ORPHA:397709	Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome	HP:0040282 - Frequent		14
HP:0000496	HP:0000639	Nystagmus	2	SNX14 CL E G H	57231	14977	OMIM:616354	Spinocerebellar ataxia, autosomal recessive 20	HP:0040283 - Occasional		14
HP:0000496	HP:0000486	Strabismus	2	SOBP CL E G H	55084	29256	OMIM:613671	Mental retardation, anterior maxillary protrusion, and strabismus	.		29
HP:0000496	HP:0000486	Strabismus	2	SON CL E G H	6651	11183	ORPHA:500150	Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome	HP:0040282 - Frequent		12
HP:0000496	HP:0000639	Nystagmus	2	SON CL E G H	6651	11183	ORPHA:500150	Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome	HP:0040283 - Occasional		12
HP:0000496	HP:0000486	Strabismus	2	SON CL E G H	6651	11183	OMIM:617140	Zttk syndrome			12
HP:0000496	HP:0000486	Strabismus	2	SOS1 CL E G H	6654	11187	ORPHA:648	Noonan syndrome	HP:0040282 - Frequent		315
HP:0000496	HP:0000639	Nystagmus	2	SOS1 CL E G H	6654	11187	ORPHA:648	Noonan syndrome	HP:0040283 - Occasional		315
HP:0000496	HP:0000486	Strabismus	2	SOS2 CL E G H	6655	11188	ORPHA:648	Noonan syndrome	HP:0040282 - Frequent		30
HP:0000496	HP:0000639	Nystagmus	2	SOS2 CL E G H	6655	11188	ORPHA:648	Noonan syndrome	HP:0040283 - Occasional		30
HP:0000496	HP:0000486	Strabismus	2	SOST CL E G H	50964	13771	OMIM:269500	Sclerosteosis 1			26
HP:0000496	HP:0000639	Nystagmus	2	SOST CL E G H	50964	13771	OMIM:269500	Sclerosteosis 1	.		26
HP:0000496	HP:0000639	Nystagmus	2	SOX10 CL E G H	6663	11190	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional		61
HP:0000496	HP:0000639	Nystagmus	2	SOX10 CL E G H	6663	11190	OMIM:609136	Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease			61
HP:0000496	HP:0000639	Nystagmus	2	SOX10 CL E G H	6663	11190	ORPHA:163746	Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease	HP:0040281 - Very frequent		61
HP:0000496	HP:0000639	Nystagmus	2	SOX10 CL E G H	6663	11190	OMIM:611584	Waardenburg syndrome, type 2E	.		61
HP:0000496	HP:0000486	Strabismus	2	SOX11 CL E G H	6664	11191	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent		14
HP:0000496	HP:0000486	Strabismus	2	SOX2 CL E G H	6657	11195	ORPHA:35612	Nanophthalmos	HP:0040281 - Very frequent		33
HP:0000496	HP:0000486	Strabismus	2	SOX2 CL E G H	6657	11195	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040282 - Frequent		33
HP:0000496	HP:0000639	Nystagmus	2	SOX2 CL E G H	6657	11195	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040282 - Frequent		33
HP:0000496	HP:0000486	Strabismus	2	SOX3 CL E G H	6658	11199	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040282 - Frequent		24
HP:0000496	HP:0000639	Nystagmus	2	SOX3 CL E G H	6658	11199	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040282 - Frequent		24
HP:0000496	HP:0000639	Nystagmus	2	SOX3 CL E G H	6658	11199	ORPHA:67045	X-linked intellectual disability with isolated growth hormone deficiency			24
HP:0000496	HP:0000486	Strabismus	2	SOX4 CL E G H	6659	11200	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent
HP:0000496	HP:0000486	Strabismus	2	SOX5 CL E G H	6660	11201	ORPHA:313892	Developmental and speech delay due to SOX5 deficiency	HP:0040282 - Frequent		11
HP:0000496	HP:0000486	Strabismus	2	SOX5 CL E G H	6660	11201	OMIM:616803	Lamb-Shaffer syndrome			11
HP:0000496	HP:0000639	Nystagmus	2	SPAST CL E G H	6683	11233	OMIM:182601	Spastic paraplegia 4, autosomal dominant	.		208
HP:0000496	HP:0000486	Strabismus	2	SPATA5 CL E G H	166378	18119	OMIM:616577	Epilepsy, hearing loss, and mental retardation syndrome	HP:0040283 - Occasional		19
HP:0000496	HP:0000639	Nystagmus	2	SPATA5 CL E G H	166378	18119	OMIM:616577	Epilepsy, hearing loss, and mental retardation syndrome	HP:0040283 - Occasional		19
HP:0000496	HP:0000486	Strabismus	2	SPATA5 CL E G H	166378	18119	ORPHA:457351	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome			19
HP:0000496	HP:0000639	Nystagmus	2	SPATA7 CL E G H	55812	20423	ORPHA:65	Leber congenital amaurosis	HP:0040282 - Frequent		48
HP:0000496	HP:0000639	Nystagmus	2	SPATA7 CL E G H	55812	20423	OMIM:604232	LEBER CONGENITAL AMAUROSIS 3; LCA3			48
HP:0000496	HP:0000602	Ophthalmoplegia	2	SPATA7 CL E G H	55812	20423	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		48
HP:0000496	HP:0000639	Nystagmus	2	SPATA7 CL E G H	55812	20423	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		48
HP:0000496	HP:0000486	Strabismus	2	SPATA7 CL E G H	55812	20423	ORPHA:364055	Severe early-childhood-onset retinal dystrophy			48
HP:0000496	HP:0000639	Nystagmus	2	SPATA7 CL E G H	55812	20423	ORPHA:364055	Severe early-childhood-onset retinal dystrophy	HP:0040282 - Frequent		48
HP:0000496	HP:0000486	Strabismus	2	SPECC1L CL E G H	23384	29022	ORPHA:1519	SPECC1L-related hypertelorism syndrome	HP:0040283 - Occasional		6
HP:0000496	HP:0000602	Ophthalmoplegia	2	SPEG CL E G H	10290	16901	ORPHA:169186	Autosomal recessive centronuclear myopathy	HP:0040283 - Occasional		20
HP:0000496	HP:0000602	Ophthalmoplegia	2	SPEG CL E G H	10290	16901	OMIM:615959	Myopathy, centronuclear, 5	.		20
HP:0000496	HP:0000486	Strabismus	2	SPEN CL E G H	23013	17575	ORPHA:1606	1p36 deletion syndrome	HP:0040282 - Frequent		4
HP:0000496	HP:0000639	Nystagmus	2	SPEN CL E G H	23013	17575	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		4
HP:0000496	HP:0000486	Strabismus	2	SPG11 CL E G H	80208	11226	ORPHA:2822	Autosomal recessive spastic paraplegia type 11	HP:0040283 - Occasional		287
HP:0000496	HP:0000639	Nystagmus	2	SPG11 CL E G H	80208	11226	ORPHA:2822	Autosomal recessive spastic paraplegia type 11	HP:0040282 - Frequent		287
HP:0000496	HP:0001152	Saccadic smooth pursuit	2	SPG11 CL E G H	80208	11226	ORPHA:2822	Autosomal recessive spastic paraplegia type 11	HP:0040282 - Frequent		287
HP:0000496	HP:0000605	Supranuclear gaze palsy	2	SPG11 CL E G H	80208	11226	ORPHA:300605	Juvenile amyotrophic lateral sclerosis	HP:0040283 - Occasional		287
HP:0000496	HP:0000639	Nystagmus	2	SPG11 CL E G H	80208	11226	ORPHA:300605	Juvenile amyotrophic lateral sclerosis	HP:0040283 - Occasional		287
HP:0000496	HP:0000639	Nystagmus	2	SPG11 CL E G H	80208	11226	OMIM:604360	Spastic paraplegia 11, autosomal recessive			287
HP:0000496	HP:0000605	Supranuclear gaze palsy	2	SPG7 CL E G H	6687	11237	OMIM:607259	Spastic paraplegia 7, autosomal recessive			171
HP:0000496	HP:0000639	Nystagmus	2	SPG7 CL E G H	6687	11237	OMIM:607259	Spastic paraplegia 7, autosomal recessive			171
HP:0000496	HP:0000605	Supranuclear gaze palsy	2	SPG7 CL E G H	6687	11237	ORPHA:99013	Spastic paraplegia type 7	HP:0040282 - Frequent		171
HP:0000496	HP:0000639	Nystagmus	2	SPG7 CL E G H	6687	11237	ORPHA:99013	Spastic paraplegia type 7	HP:0040282 - Frequent		171
HP:0000496	HP:0000486	Strabismus	2	SPOP CL E G H	8405	11254	OMIM:618829	NABAIS SA-DE VRIES SYNDROME, TYPE 2; NSDVS2			16
HP:0000496	HP:0000486	Strabismus	2	SPRED2 CL E G H	200734	17722	ORPHA:648	Noonan syndrome	HP:0040282 - Frequent
HP:0000496	HP:0000639	Nystagmus	2	SPRED2 CL E G H	200734	17722	ORPHA:648	Noonan syndrome	HP:0040283 - Occasional
HP:0000496	HP:0000639	Nystagmus	2	SPRY4 CL E G H	81848	15533	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional		5
HP:0000496	HP:0000486	Strabismus	2	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0000496	HP:0000486	Strabismus	2	SPTBN2 CL E G H	6712	11276	ORPHA:352403	Spectrin-associated autosomal recessive cerebellar ataxia	HP:0040283 - Occasional		126
HP:0000496	HP:0000639	Nystagmus	2	SPTBN2 CL E G H	6712	11276	ORPHA:352403	Spectrin-associated autosomal recessive cerebellar ataxia	HP:0040283 - Occasional		126
HP:0000496	HP:0000641	Dysmetric saccades	2	SPTBN2 CL E G H	6712	11276	ORPHA:352403	Spectrin-associated autosomal recessive cerebellar ataxia	HP:0040283 - Occasional		126
HP:0000496	HP:0008003	Jerky ocular pursuit movements	2	SPTBN2 CL E G H	6712	11276	ORPHA:352403	Spectrin-associated autosomal recessive cerebellar ataxia	HP:0040283 - Occasional		126
HP:0000496	HP:0000639	Nystagmus	2	SPTBN2 CL E G H	6712	11276	OMIM:600224	Spinocerebellar ataxia 5			126
HP:0000496	HP:0007772	Impaired smooth pursuit	2	SPTBN2 CL E G H	6712	11276	OMIM:600224	Spinocerebellar ataxia 5	.		126
HP:0000496	HP:0000571	Hypometric saccades	2	SPTBN2 CL E G H	6712	11276	OMIM:615386	Spinocerebellar ataxia, autosomal recessive 14	HP:0040283 - Occasional		126
HP:0000496	HP:0000639	Nystagmus	2	SPTBN2 CL E G H	6712	11276	OMIM:615386	Spinocerebellar ataxia, autosomal recessive 14	HP:0040283 - Occasional		126
HP:0000496	HP:0008003	Jerky ocular pursuit movements	2	SPTBN2 CL E G H	6712	11276	OMIM:615386	Spinocerebellar ataxia, autosomal recessive 14	HP:0040283 - Occasional		126
HP:0000496	HP:0000639	Nystagmus	2	SPTBN4 CL E G H	57731	14896	OMIM:617519	Neurodevelopmental disorder with hypotonia, neuropathy, and deafness			3
HP:0000496	HP:0000605	Supranuclear gaze palsy	2	SPTLC1 CL E G H	10558	11277	ORPHA:300605	Juvenile amyotrophic lateral sclerosis	HP:0040283 - Occasional		54
HP:0000496	HP:0000639	Nystagmus	2	SPTLC1 CL E G H	10558	11277	ORPHA:300605	Juvenile amyotrophic lateral sclerosis	HP:0040283 - Occasional		54
HP:0000496	HP:0000605	Supranuclear gaze palsy	2	SQSTM1 CL E G H	8878	11280	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040283 - Occasional		62
HP:0000496	HP:0000605	Supranuclear gaze palsy	2	SQSTM1 CL E G H	8878	11280	OMIM:617145	Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset			62
HP:0000496	HP:0000639	Nystagmus	2	SQSTM1 CL E G H	8878	11280	OMIM:617145	Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset	.		62
HP:0000496	HP:0000486	Strabismus	2	SRCAP CL E G H	10847	16974	OMIM:619595	DEVELOPMENTAL DELAY, HYPOTONIA, MUSCULOSKELETAL DEFECTS, AND BEHAVIORAL ABNORMALITIES; DEHMBA			138
HP:0000496	HP:0000486	Strabismus	2	SRCAP CL E G H	10847	16974	OMIM:136140	Floating-Harbor syndrome	HP:0040283 - Occasional		138
HP:0000496	HP:0000486	Strabismus	2	SRCAP CL E G H	10847	16974	ORPHA:2044	Floating-Harbor syndrome	HP:0040282 - Frequent		138
HP:0000496	HP:0000639	Nystagmus	2	SRD5A3 CL E G H	79644	25812	OMIM:612379	Congenital disorder of glycosylation, type IQ	.		80
HP:0000496	HP:0000639	Nystagmus	2	SRD5A3 CL E G H	79644	25812	ORPHA:324737	SRD5A3-CDG	HP:0040282 - Frequent		80
HP:0000496	HP:0000486	Strabismus	2	SREBF1 CL E G H	6720	11289	OMIM:619016	IFAP SYNDROME 2; IFAP2			1
HP:0000496	HP:0000486	Strabismus	2	SREBF1 CL E G H	6720	11289	OMIM:158310	Mucoepithelial dysplasia, hereditary			1
HP:0000496	HP:0000639	Nystagmus	2	SREBF1 CL E G H	6720	11289	OMIM:158310	Mucoepithelial dysplasia, hereditary	.		1
HP:0000496	HP:0000639	Nystagmus	2	SRPX2 CL E G H	27286	30668	ORPHA:98889	Bilateral perisylvian polymicrogyria	HP:0040283 - Occasional		50
HP:0000496	HP:0000639	Nystagmus	2	SRY CL E G H	6736	11311	ORPHA:1772	45,X/46,XY mixed gonadal dysgenesis	HP:0040283 - Occasional		23
HP:0000496	HP:0000486	Strabismus	2	SSR4 CL E G H	6748	11326	OMIM:300934	Congenital disorder of glycosylation, type Iy			12
HP:0000496	HP:0000486	Strabismus	2	SSR4 CL E G H	6748	11326	ORPHA:370927	SSR4-CDG	HP:0040281 - Very frequent		12
HP:0000496	HP:0000486	Strabismus	2	STAG1 CL E G H	10274	11354	ORPHA:502434	STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome	HP:0040283 - Occasional		9
HP:0000496	HP:0000602	Ophthalmoplegia	2	STIM1 CL E G H	6786	11386	OMIM:160565	Myopathy, tubular aggregate, 1			31
HP:0000496	HP:0000486	Strabismus	2	STRADA CL E G H	92335	30172	OMIM:611087	Polyhydramnios, megalencephaly, and symptomatic epilepsy	.		6
HP:0000496	HP:0000486	Strabismus	2	STT3A CL E G H	3703	6172	OMIM:619714	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iw, AUTOSOMAL DOMINANT; CDG1WAD			21
HP:0000496	HP:0007772	Impaired smooth pursuit	2	STT3A CL E G H	3703	6172	ORPHA:370921	STT3A-CDG	HP:0040282 - Frequent		21
HP:0000496	HP:0000602	Ophthalmoplegia	2	STUB1 CL E G H	10273	11427	ORPHA:412057	Autosomal recessive cerebellar ataxia due to STUB1 deficiency	HP:0040283 - Occasional		14
HP:0000496	HP:0000639	Nystagmus	2	STUB1 CL E G H	10273	11427	ORPHA:412057	Autosomal recessive cerebellar ataxia due to STUB1 deficiency	HP:0040283 - Occasional		14
HP:0000496	HP:0001152	Saccadic smooth pursuit	2	STUB1 CL E G H	10273	11427	ORPHA:412057	Autosomal recessive cerebellar ataxia due to STUB1 deficiency	HP:0040284 - Very rare		14
HP:0000496	HP:0000602	Ophthalmoplegia	2	STUB1 CL E G H	10273	11427	OMIM:615768	Spinocerebellar ataxia, autosomal recessive 16			14
HP:0000496	HP:0000639	Nystagmus	2	STUB1 CL E G H	10273	11427	OMIM:615768	Spinocerebellar ataxia, autosomal recessive 16			14
HP:0000496	HP:0000639	Nystagmus	2	STX16 CL E G H	8675	11431	ORPHA:94089	Pseudohypoparathyroidism type 1B	HP:0040282 - Frequent		86
HP:0000496	HP:0000486	Strabismus	2	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0000496	HP:0000639	Nystagmus	2	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome
HP:0000496	HP:0000639	Nystagmus	2	STX3 CL E G H	6809	11438	OMIM:619446	RETINAL DYSTROPHY AND MICROVILLUS INCLUSION DISEASE; RDMVID			1
HP:0000496	HP:0000486	Strabismus	2	STXBP1 CL E G H	6812	11444	ORPHA:495818	9q33.3q34.11 microdeletion syndrome	HP:0040282 - Frequent		237
HP:0000496	HP:0007772	Impaired smooth pursuit	2	STXBP1 CL E G H	6812	11444	OMIM:612164	Epileptic encephalopathy, early infantile, 4			237
HP:0000496	HP:0000486	Strabismus	2	SUCLA2 CL E G H	8803	11448	OMIM:612073	Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)	.		66
HP:0000496	HP:0000602	Ophthalmoplegia	2	SUCLA2 CL E G H	8803	11448	OMIM:612073	Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)	.		66
HP:0000496	HP:0000486	Strabismus	2	SUCLG1 CL E G H	8802	11449	ORPHA:17	Fatal infantile lactic acidosis with methylmalonic aciduria	HP:0040283 - Occasional		60
HP:0000496	HP:0000486	Strabismus	2	SUFU CL E G H	51684	16466	OMIM:109400	Basal cell nevus syndrome			124
HP:0000496	HP:0000486	Strabismus	2	SUFU CL E G H	51684	16466	ORPHA:377	Gorlin syndrome	HP:0040283 - Occasional		124
HP:0000496	HP:0000486	Strabismus	2	SUFU CL E G H	51684	16466	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional		124
HP:0000496	HP:0000639	Nystagmus	2	SUFU CL E G H	51684	16466	ORPHA:475	Joubert syndrome	HP:0040282 - Frequent		124
HP:0000496	HP:0000639	Nystagmus	2	SUFU CL E G H	51684	16466	OMIM:617757	Joubert syndrome 32	HP:0040284 - Very rare		124
HP:0000496	HP:0000602	Ophthalmoplegia	2	SUFU CL E G H	51684	16466	ORPHA:2495	Meningioma	HP:0040283 - Occasional		124
HP:0000496	HP:0007715	Weak extraocular muscles	2	SUFU CL E G H	51684	16466	ORPHA:2495	Meningioma	HP:0040283 - Occasional		124
HP:0000496	HP:0012246	Oculomotor nerve palsy	2	SUFU CL E G H	51684	16466	ORPHA:2495	Meningioma	HP:0040283 - Occasional		124
HP:0000496	HP:0000486	Strabismus	2	SUFU CL E G H	51684	16466	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional		124
HP:0000496	HP:0000486	Strabismus	2	SUPT16H CL E G H	11198	11465	OMIM:619480	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND THIN CORPUS CALLOSUM; NEDDFAC
HP:0000496	HP:0000639	Nystagmus	2	SURF1 CL E G H	6834	11474	OMIM:616684	Charcot-Marie-Tooth disease, type 4K			73
HP:0000496	HP:0000602	Ophthalmoplegia	2	SURF1 CL E G H	6834	11474	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040283 - Occasional		73
HP:0000496	HP:0000639	Nystagmus	2	SURF1 CL E G H	6834	11474	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040282 - Frequent		73
HP:0000496	HP:0000486	Strabismus	2	SURF1 CL E G H	6834	11474	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		73
HP:0000496	HP:0000602	Ophthalmoplegia	2	SURF1 CL E G H	6834	11474	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		73
HP:0000496	HP:0000639	Nystagmus	2	SURF1 CL E G H	6834	11474	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		73
HP:0000496	HP:0000486	Strabismus	2	SYNE1 CL E G H	23345	17089	OMIM:618484	Arthrogryposis multiplex congenita, Myogenic type	.		1129
HP:0000496	HP:0000486	Strabismus	2	SYNE1 CL E G H	23345	17089	ORPHA:88644	Autosomal recessive ataxia, Beauce type	HP:0040283 - Occasional		1129
HP:0000496	HP:0007772	Impaired smooth pursuit	2	SYNE1 CL E G H	23345	17089	ORPHA:88644	Autosomal recessive ataxia, Beauce type	HP:0040283 - Occasional		1129
HP:0000496	HP:0032114	Saccadic intrusion	2	SYNE1 CL E G H	23345	17089	ORPHA:88644	Autosomal recessive ataxia, Beauce type			1129
HP:0000496	HP:0000486	Strabismus	2	SYNE1 CL E G H	23345	17089	ORPHA:319332	Autosomal recessive myogenic arthrogryposis multiplex congenita			1129
HP:0000496	HP:0000486	Strabismus	2	SYNE1 CL E G H	23345	17089	OMIM:610743	Spinocerebellar ataxia, autosomal recessive 8	.		1129
HP:0000496	HP:0000639	Nystagmus	2	SYNE1 CL E G H	23345	17089	OMIM:610743	Spinocerebellar ataxia, autosomal recessive 8	.		1129
HP:0000496	HP:0000486	Strabismus	2	SYNGAP1 CL E G H	8831	11497	OMIM:612621	Mental retardation, autosomal dominant 5			108
HP:0000496	HP:0000639	Nystagmus	2	SYNGAP1 CL E G H	8831	11497	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		108
HP:0000496	HP:0000639	Nystagmus	2	SYNJ1 CL E G H	8867	11503	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		9
HP:0000496	HP:0000605	Supranuclear gaze palsy	2	SYNJ1 CL E G H	8867	11503	OMIM:615530	Parkinson disease 20, early-onset	.		9
HP:0000496	HP:0000486	Strabismus	2	SYT1 CL E G H	6857	11509	OMIM:618218	Baker-Gordon syndrome	.		1
HP:0000496	HP:0000639	Nystagmus	2	SYT1 CL E G H	6857	11509	OMIM:618218	Baker-Gordon syndrome	.		1
HP:0000496	HP:0000486	Strabismus	2	SYT1 CL E G H	6857	11509	ORPHA:522077	Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome	HP:0040282 - Frequent		1
HP:0000496	HP:0000639	Nystagmus	2	SYT1 CL E G H	6857	11509	ORPHA:522077	Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome	HP:0040282 - Frequent		1
HP:0000496	HP:0000639	Nystagmus	2	SYT14 CL E G H	255928	23143	ORPHA:284271	Autosomal recessive cerebellar ataxia-psychomotor delay syndrome	HP:0040282 - Frequent		4
HP:0000496	HP:0000639	Nystagmus	2	SYT14 CL E G H	255928	23143	OMIM:614229	Spinocerebellar ataxia, autosomal recessive 11	HP:0040283 - Occasional		4
HP:0000496	HP:0007772	Impaired smooth pursuit	2	SYT14 CL E G H	255928	23143	OMIM:614229	Spinocerebellar ataxia, autosomal recessive 11	.		4
HP:0000496	HP:0000514	Slow saccadic eye movements	2	SYT2 CL E G H	127833	11510	OMIM:619461	MYASTHENIC SYNDROME, CONGENITAL, 7B, PRESYNAPTIC, AUTOSOMAL RECESSIVE; CMS7B			4
HP:0000496	HP:0000486	Strabismus	2	SYT2 CL E G H	127833	11510	ORPHA:98914	Presynaptic congenital myasthenic syndromes			4
HP:0000496	HP:0000602	Ophthalmoplegia	2	SYT2 CL E G H	127833	11510	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent		4
HP:0000496	HP:0000639	Nystagmus	2	SYT2 CL E G H	127833	11510	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040284 - Very rare		4
HP:0000496	HP:0000639	Nystagmus	2	SZT2 CL E G H	23334	29040	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		123
HP:0000496	HP:0000486	Strabismus	2	TACO1 CL E G H	51204	24316	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		23
HP:0000496	HP:0000602	Ophthalmoplegia	2	TACO1 CL E G H	51204	24316	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		23
HP:0000496	HP:0000639	Nystagmus	2	TACO1 CL E G H	51204	24316	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		23
HP:0000496	HP:0000639	Nystagmus	2	TACR3 CL E G H	6870	11528	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional		34
HP:0000496	HP:0000486	Strabismus	2	TAF1 CL E G H	6872	11535	OMIM:300966	MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS33			21
HP:0000496	HP:0000639	Nystagmus	2	TAF1 CL E G H	6872	11535	OMIM:300966	MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS33			21
HP:0000496	HP:0000486	Strabismus	2	TAF1 CL E G H	6872	11535	ORPHA:480907	X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome	HP:0040282 - Frequent		21
HP:0000496	HP:0000639	Nystagmus	2	TAF2 CL E G H	6873	11536	OMIM:615599	Mental retardation, autosomal recessive 40	HP:0040283 - Occasional		7
HP:0000496	HP:0000486	Strabismus	2	TAF2 CL E G H	6873	11536	ORPHA:397951	Microcephaly-thin corpus callosum-intellectual disability syndrome			7
HP:0000496	HP:0000639	Nystagmus	2	TAF2 CL E G H	6873	11536	ORPHA:397951	Microcephaly-thin corpus callosum-intellectual disability syndrome			7
HP:0000496	HP:0000605	Supranuclear gaze palsy	2	TANGO2 CL E G H	128989	25439	ORPHA:480864	Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome	HP:0040283 - Occasional		12
HP:0000496	HP:0000639	Nystagmus	2	TANGO2 CL E G H	128989	25439	ORPHA:480864	Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome	HP:0040283 - Occasional		12
HP:0000496	HP:0000486	Strabismus	2	TAOK1 CL E G H	57551	29259	OMIM:619575	DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES; DDIB
HP:0000496	HP:0000639	Nystagmus	2	TAOK1 CL E G H	57551	29259	OMIM:619575	DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES; DDIB
HP:0000496	HP:0000605	Supranuclear gaze palsy	2	TARDBP CL E G H	23435	11571	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040283 - Occasional		65
HP:0000496	HP:0000486	Strabismus	2	TARS1 CL E G H	6897	11572	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional
HP:0000496	HP:0000639	Nystagmus	2	TARS1 CL E G H	6897	11572	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional
HP:0000496	HP:0000486	Strabismus	2	TASP1 CL E G H	55617	15859	OMIM:618950	SULEIMAN-EL-HATTAB SYNDROME; SULEHS
HP:0000496	HP:0000639	Nystagmus	2	TAT CL E G H	6898	11573	ORPHA:28378	Tyrosinemia type 2	HP:0040282 - Frequent		43
HP:0000496	HP:0000486	Strabismus	2	TBC1D23 CL E G H	55773	25622	OMIM:617695	Pontocerebellar hypoplasia, type 11	.
HP:0000496	HP:0000486	Strabismus	2	TBC1D24 CL E G H	57465	29203	ORPHA:79500	DOORS syndrome	HP:0040284 - Very rare		271
HP:0000496	HP:0000639	Nystagmus	2	TBC1D24 CL E G H	57465	29203	ORPHA:79500	DOORS syndrome			271
HP:0000496	HP:0000639	Nystagmus	2	TBC1D24 CL E G H	57465	29203	OMIM:608105	Epilepsy, rolandic, with paroxysmal exercise-induced dystonia and writer's cramp			271
HP:0000496	HP:0000639	Nystagmus	2	TBC1D24 CL E G H	57465	29203	ORPHA:163727	Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome			271
HP:0000496	HP:0000486	Strabismus	2	TBC1D2B CL E G H	23102	29183	ORPHA:397973	Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome	HP:0040283 - Occasional
HP:0000496	HP:0007772	Impaired smooth pursuit	2	TBCD CL E G H	6904	11581	ORPHA:496641	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome			16
HP:0000496	HP:0000486	Strabismus	2	TBCD CL E G H	6904	11581	OMIM:617193	ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM; PEBAT			16
HP:0000496	HP:0000639	Nystagmus	2	TBCD CL E G H	6904	11581	OMIM:617193	ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM; PEBAT			16
HP:0000496	HP:0007772	Impaired smooth pursuit	2	TBCD CL E G H	6904	11581	OMIM:617193	ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM; PEBAT			16
HP:0000496	HP:0000486	Strabismus	2	TBCK CL E G H	93627	28261	ORPHA:488632	TBCK-related intellectual disability syndrome	HP:0040284 - Very rare		13
HP:0000496	HP:0000639	Nystagmus	2	TBCK CL E G H	93627	28261	ORPHA:488632	TBCK-related intellectual disability syndrome	HP:0040284 - Very rare		13
HP:0000496	HP:0000605	Supranuclear gaze palsy	2	TBK1 CL E G H	29110	11584	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040283 - Occasional		20
HP:0000496	HP:0000486	Strabismus	2	TBL1XR1 CL E G H	79718	29529	OMIM:602342	Pierpont syndrome	HP:0040283 - Occasional		22
HP:0000496	HP:0000486	Strabismus	2	TBL1XR1 CL E G H	79718	29529	ORPHA:487825	Pierpont syndrome	HP:0040282 - Frequent		22
HP:0000496	HP:0000639	Nystagmus	2	TBL1XR1 CL E G H	79718	29529	OMIM:602342	Pierpont syndrome			22
HP:0000496	HP:0000639	Nystagmus	2	TBL1XR1 CL E G H	79718	29529	ORPHA:487825	Pierpont syndrome			22
HP:0000496	HP:0000486	Strabismus	2	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0000496	HP:0000639	Nystagmus	2	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome
HP:0000496	HP:0000639	Nystagmus	2	TBP CL E G H	6908	11588	OMIM:607136	Spinocerebellar ataxia 17			7
HP:0000496	HP:0007668	Impaired pursuit initiation and maintenance	2	TBP CL E G H	6908	11588	OMIM:607136	Spinocerebellar ataxia 17	.		7
HP:0000496	HP:0000486	Strabismus	2	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional		32
HP:0000496	HP:0000486	Strabismus	2	TBX1 CL E G H	6899	11592	OMIM:188400	Digeorge syndrome			32
HP:0000496	HP:0000486	Strabismus	2	TBX15 CL E G H	6913	11594	ORPHA:93333	Pelviscapular dysplasia	HP:0040282 - Frequent		5
HP:0000496	HP:0000486	Strabismus	2	TBX4 CL E G H	9496	11603	ORPHA:261279	17q23.1q23.2 microdeletion syndrome	HP:0040283 - Occasional		55
HP:0000496	HP:0000486	Strabismus	2	TCF12 CL E G H	6938	11623	OMIM:615314	Craniosynostosis 3	HP:0040283 - Occasional		28
HP:0000496	HP:0000486	Strabismus	2	TCF20 CL E G H	6942	11631	OMIM:618430	Developmental delay with variable intellectual impairment and behavioral abnormalities	.		1
HP:0000496	HP:0000486	Strabismus	2	TCF4 CL E G H	6925	11634	OMIM:610954	Pitt-Hopkins syndrome	.		241
HP:0000496	HP:0000486	Strabismus	2	TCF4 CL E G H	6925	11634	ORPHA:2896	Pitt-Hopkins syndrome	HP:0040282 - Frequent		241
HP:0000496	HP:0000639	Nystagmus	2	TCIRG1 CL E G H	10312	11647	ORPHA:667	Autosomal recessive malignant osteopetrosis	HP:0040281 - Very frequent		82
HP:0000496	HP:0010543	Opsoclonus	2	TCIRG1 CL E G H	10312	11647	ORPHA:667	Autosomal recessive malignant osteopetrosis	HP:0040281 - Very frequent		82
HP:0000496	HP:0032104	Saccadic oscillation	2	TCIRG1 CL E G H	10312	11647	ORPHA:667	Autosomal recessive malignant osteopetrosis			82
HP:0000496	HP:0000639	Nystagmus	2	TCIRG1 CL E G H	10312	11647	ORPHA:1782	Dysosteosclerosis	HP:0040281 - Very frequent		82
HP:0000496	HP:0000639	Nystagmus	2	TCIRG1 CL E G H	10312	11647	OMIM:259700	Osteopetrosis, autosomal recessive 1	.		82
HP:0000496	HP:0000486	Strabismus	2	TCOF1 CL E G H	6949	11654	OMIM:154500	Treacher collins-franceschetti syndrome	.		140
HP:0000496	HP:0000486	Strabismus	2	TCOF1 CL E G H	6949	11654	ORPHA:861	Treacher-Collins syndrome	HP:0040282 - Frequent		140
HP:0000496	HP:0000486	Strabismus	2	TCTN1 CL E G H	79600	26113	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional		45
HP:0000496	HP:0000639	Nystagmus	2	TCTN1 CL E G H	79600	26113	ORPHA:475	Joubert syndrome	HP:0040282 - Frequent		45
HP:0000496	HP:0000486	Strabismus	2	TCTN2 CL E G H	79867	25774	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional		76
HP:0000496	HP:0000639	Nystagmus	2	TCTN2 CL E G H	79867	25774	ORPHA:475	Joubert syndrome	HP:0040282 - Frequent		76
HP:0000496	HP:0000639	Nystagmus	2	TCTN2 CL E G H	79867	25774	OMIM:616654	Joubert syndrome 24	.		76
HP:0000496	HP:0000486	Strabismus	2	TCTN3 CL E G H	26123	24519	ORPHA:2754	Orofaciodigital syndrome type 6			31
HP:0000496	HP:0000639	Nystagmus	2	TCTN3 CL E G H	26123	24519	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040282 - Frequent		31
HP:0000496	HP:0000486	Strabismus	2	TDGF1 CL E G H	6997	11701	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional		1
HP:0000496	HP:0000639	Nystagmus	2	TDP1 CL E G H	55775	18884	ORPHA:94124	Spinocerebellar ataxia with axonal neuropathy type 1			52
HP:0000496	HP:0000486	Strabismus	2	TELO2 CL E G H	9894	29099	ORPHA:488642	TELO2-related intellectual disability-neurodevelopmental disorder			12
HP:0000496	HP:0000639	Nystagmus	2	TELO2 CL E G H	9894	29099	ORPHA:488642	TELO2-related intellectual disability-neurodevelopmental disorder			12
HP:0000496	HP:0000486	Strabismus	2	TENM3 CL E G H	55714	29944	OMIM:615145	Microphthalmia, isolated, with coloboma 9			12
HP:0000496	HP:0000639	Nystagmus	2	TENM3 CL E G H	55714	29944	OMIM:615145	Microphthalmia, isolated, with coloboma 9			12
HP:0000496	HP:0000602	Ophthalmoplegia	2	TERT CL E G H	7015	11730	ORPHA:2495	Meningioma	HP:0040283 - Occasional		238
HP:0000496	HP:0007715	Weak extraocular muscles	2	TERT CL E G H	7015	11730	ORPHA:2495	Meningioma	HP:0040283 - Occasional		238
HP:0000496	HP:0012246	Oculomotor nerve palsy	2	TERT CL E G H	7015	11730	ORPHA:2495	Meningioma	HP:0040283 - Occasional		238
HP:0000496	HP:0000486	Strabismus	2	TET3 CL E G H	200424	28313	OMIM:618798	BECK-FAHRNER SYNDROME; BEFAHRS
HP:0000496	HP:0000639	Nystagmus	2	TET3 CL E G H	200424	28313	OMIM:618798	BECK-FAHRNER SYNDROME; BEFAHRS
HP:0000496	HP:0000486	Strabismus	2	TFAP2A CL E G H	7020	11742	ORPHA:1297	Branchio-oculo-facial syndrome	HP:0040283 - Occasional		12
HP:0000496	HP:0000486	Strabismus	2	TFAP2A CL E G H	7020	11742	OMIM:113620	Branchiooculofacial syndrome	.		12
HP:0000496	HP:0000639	Nystagmus	2	TFAP2A CL E G H	7020	11742	OMIM:113620	Branchiooculofacial syndrome	.		12
HP:0000496	HP:0000486	Strabismus	2	TFAP2B CL E G H	7021	11743	OMIM:169100	Char syndrome	.		104
HP:0000496	HP:0000486	Strabismus	2	TFAP2B CL E G H	7021	11743	ORPHA:46627	Char syndrome	HP:0040283 - Occasional		104
HP:0000496	HP:0000486	Strabismus	2	TFE3 CL E G H	7030	11752	OMIM:301066	INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES; MRXSPF
HP:0000496	HP:0000486	Strabismus	2	TGFBI CL E G H	7045	11771	OMIM:608470	Corneal dystrophy, Reis-Bucklers type	.		58
HP:0000496	HP:0000486	Strabismus	2	TGFBI CL E G H	7045	11771	OMIM:121900	Groenouw type I corneal dystrophy	.		58
HP:0000496	HP:0000486	Strabismus	2	TGFBR1 CL E G H	7046	11772	OMIM:609192	Loeys-Dietz syndrome 1			239
HP:0000496	HP:0000486	Strabismus	2	TGFBR2 CL E G H	7048	11773	OMIM:610168	Loeys-Dietz syndrome 2			253
HP:0000496	HP:0012246	Oculomotor nerve palsy	2	TGFBR3 CL E G H	7049	11774	ORPHA:231160	Familial cerebral saccular aneurysm	HP:0040283 - Occasional		1
HP:0000496	HP:0000486	Strabismus	2	TGIF1 CL E G H	7050	11776	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional		32
HP:0000496	HP:0000514	Slow saccadic eye movements	2	TGM6 CL E G H	343641	16255	OMIM:613908	Spinocerebellar ataxia 35			58
HP:0000496	HP:0000641	Dysmetric saccades	2	TGM6 CL E G H	343641	16255	ORPHA:276193	Spinocerebellar ataxia type 35	HP:0040283 - Occasional		58
HP:0000496	HP:0000486	Strabismus	2	THG1L CL E G H	54974	26053	OMIM:618800	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 28; SCAR28
HP:0000496	HP:0000639	Nystagmus	2	THG1L CL E G H	54974	26053	OMIM:618800	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 28; SCAR28
HP:0000496	HP:0007772	Impaired smooth pursuit	2	THG1L CL E G H	54974	26053	OMIM:618800	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 28; SCAR28
HP:0000496	HP:0000486	Strabismus	2	THOC2 CL E G H	57187	19073	OMIM:300957	Mental retardation, X-linked 12/35			5
HP:0000496	HP:0000639	Nystagmus	2	THOC2 CL E G H	57187	19073	OMIM:300957	Mental retardation, X-linked 12/35			5
HP:0000496	HP:0000486	Strabismus	2	THOC2 CL E G H	57187	19073	ORPHA:457240	X-linked intellectual disability-short stature-overweight syndrome	HP:0040283 - Occasional		5
HP:0000496	HP:0000639	Nystagmus	2	THOC2 CL E G H	57187	19073	ORPHA:457240	X-linked intellectual disability-short stature-overweight syndrome	HP:0040283 - Occasional		5
HP:0000496	HP:0012246	Oculomotor nerve palsy	2	THSD1 CL E G H	55901	17754	ORPHA:231160	Familial cerebral saccular aneurysm	HP:0040283 - Occasional		2
HP:0000496	HP:0000486	Strabismus	2	TIMM50 CL E G H	92609	23656	OMIM:617698	3-methylglutaconic aciduria, type IX			1
HP:0000496	HP:0000486	Strabismus	2	TIMMDC1 CL E G H	51300	1321	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		1
HP:0000496	HP:0000639	Nystagmus	2	TIMMDC1 CL E G H	51300	1321	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		1
HP:0000496	HP:0007704	Paroxysmal involuntary eye movements	2	TIMMDC1 CL E G H	51300	1321	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		1
HP:0000496	HP:0000639	Nystagmus	2	TIMMDC1 CL E G H	51300	1321	OMIM:618251	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 31; MC1DN31			1
HP:0000496	HP:0000639	Nystagmus	2	TINF2 CL E G H	26277	11824	OMIM:268130	Revesz syndrome	.		60
HP:0000496	HP:0000602	Ophthalmoplegia	2	TK2 CL E G H	7084	11831	ORPHA:254886	Autosomal recessive progressive external ophthalmoplegia			103
HP:0000496	HP:0000602	Ophthalmoplegia	2	TK2 CL E G H	7084	11831	ORPHA:254875	Mitochondrial DNA depletion syndrome, myopathic form			103
HP:0000496	HP:0000602	Ophthalmoplegia	2	TK2 CL E G H	7084	11831	OMIM:617069	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3			103
HP:0000496	HP:0000486	Strabismus	2	TKFC CL E G H	26007	24552	ORPHA:1369	Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome	HP:0040281 - Very frequent
HP:0000496	HP:0000639	Nystagmus	2	TKFC CL E G H	26007	24552	ORPHA:1369	Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome	HP:0040281 - Very frequent
HP:0000496	HP:0000486	Strabismus	2	TKT CL E G H	7086	11834	OMIM:617044	Short stature, developmental delay, and congenital heart defects			4
HP:0000496	HP:0000486	Strabismus	2	TLK2 CL E G H	11011	11842	OMIM:618050	Mental retardation, autosomal dominant 57	.		1
HP:0000496	HP:0000486	Strabismus	2	TMCO1 CL E G H	54499	18188	ORPHA:1394	Cerebrofaciothoracic dysplasia	HP:0040282 - Frequent		6
HP:0000496	HP:0000486	Strabismus	2	TMCO1 CL E G H	54499	18188	OMIM:213980	Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome	HP:0040283 - Occasional		6
HP:0000496	HP:0000639	Nystagmus	2	TMEM106B CL E G H	54664	22407	OMIM:617964	Leukodystrophy, hypomyelinating, 16	.
HP:0000496	HP:0001152	Saccadic smooth pursuit	2	TMEM106B CL E G H	54664	22407	OMIM:617964	Leukodystrophy, hypomyelinating, 16
HP:0000496	HP:0000486	Strabismus	2	TMEM126A CL E G H	84233	25382	OMIM:612989	Optic atrophy 7 with or without auditory neuropathy	HP:0040283 - Occasional		23
HP:0000496	HP:0000639	Nystagmus	2	TMEM126A CL E G H	84233	25382	OMIM:612989	Optic atrophy 7 with or without auditory neuropathy			23
HP:0000496	HP:0000486	Strabismus	2	TMEM126B CL E G H	55863	30883	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		4
HP:0000496	HP:0000639	Nystagmus	2	TMEM126B CL E G H	55863	30883	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		4
HP:0000496	HP:0007704	Paroxysmal involuntary eye movements	2	TMEM126B CL E G H	55863	30883	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		4
HP:0000496	HP:0000486	Strabismus	2	TMEM138 CL E G H	51524	26944	ORPHA:2318	Joubert syndrome with oculorenal defect	HP:0040283 - Occasional		39
HP:0000496	HP:0000639	Nystagmus	2	TMEM138 CL E G H	51524	26944	ORPHA:2318	Joubert syndrome with oculorenal defect	HP:0040282 - Frequent		39
HP:0000496	HP:0000486	Strabismus	2	TMEM216 CL E G H	51259	25018	OMIM:608091	Joubert syndrome 2			45
HP:0000496	HP:0000639	Nystagmus	2	TMEM216 CL E G H	51259	25018	OMIM:608091	Joubert syndrome 2	.		45
HP:0000496	HP:0007772	Impaired smooth pursuit	2	TMEM216 CL E G H	51259	25018	OMIM:608091	Joubert syndrome 2	.		45
HP:0000496	HP:0000486	Strabismus	2	TMEM216 CL E G H	51259	25018	ORPHA:2318	Joubert syndrome with oculorenal defect	HP:0040283 - Occasional		45
HP:0000496	HP:0000639	Nystagmus	2	TMEM216 CL E G H	51259	25018	ORPHA:2318	Joubert syndrome with oculorenal defect	HP:0040282 - Frequent		45
HP:0000496	HP:0000486	Strabismus	2	TMEM216 CL E G H	51259	25018	ORPHA:2754	Orofaciodigital syndrome type 6			45
HP:0000496	HP:0000639	Nystagmus	2	TMEM216 CL E G H	51259	25018	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040282 - Frequent		45
HP:0000496	HP:0000486	Strabismus	2	TMEM218 CL E G H	219854	27344	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional
HP:0000496	HP:0000639	Nystagmus	2	TMEM218 CL E G H	219854	27344	ORPHA:475	Joubert syndrome	HP:0040282 - Frequent
HP:0000496	HP:0000486	Strabismus	2	TMEM222 CL E G H	84065	25363	OMIM:619470	NEURODEVELOPMENTAL DISORDER WITH MOTOR AND SPEECH DELAY AND BEHAVIORAL ABNORMALITIES; NEDMOSBA
HP:0000496	HP:0000486	Strabismus	2	TMEM231 CL E G H	79583	37234	ORPHA:2318	Joubert syndrome with oculorenal defect	HP:0040283 - Occasional		33
HP:0000496	HP:0000639	Nystagmus	2	TMEM231 CL E G H	79583	37234	ORPHA:2318	Joubert syndrome with oculorenal defect	HP:0040282 - Frequent		33
HP:0000496	HP:0000486	Strabismus	2	TMEM231 CL E G H	79583	37234	ORPHA:2752	Orofaciodigital syndrome type 3			33
HP:0000496	HP:0000639	Nystagmus	2	TMEM231 CL E G H	79583	37234	ORPHA:2752	Orofaciodigital syndrome type 3			33
HP:0000496	HP:0000486	Strabismus	2	TMEM237 CL E G H	65062	14432	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional		82
HP:0000496	HP:0000639	Nystagmus	2	TMEM237 CL E G H	65062	14432	ORPHA:475	Joubert syndrome	HP:0040282 - Frequent		82
HP:0000496	HP:0000486	Strabismus	2	TMEM237 CL E G H	65062	14432	OMIM:614424	Joubert syndrome 14	.		82
HP:0000496	HP:0000639	Nystagmus	2	TMEM237 CL E G H	65062	14432	OMIM:614424	Joubert syndrome 14	.		82
HP:0000496	HP:0000486	Strabismus	2	TMEM237 CL E G H	65062	14432	ORPHA:2318	Joubert syndrome with oculorenal defect	HP:0040283 - Occasional		82
HP:0000496	HP:0000639	Nystagmus	2	TMEM237 CL E G H	65062	14432	ORPHA:2318	Joubert syndrome with oculorenal defect	HP:0040282 - Frequent		82
HP:0000496	HP:0000486	Strabismus	2	TMEM237 CL E G H	65062	14432	ORPHA:220497	Joubert syndrome with renal defect	HP:0040283 - Occasional		82
HP:0000496	HP:0000639	Nystagmus	2	TMEM237 CL E G H	65062	14432	ORPHA:220497	Joubert syndrome with renal defect	HP:0040282 - Frequent		82
HP:0000496	HP:0000486	Strabismus	2	TMEM240 CL E G H	339453	25186	OMIM:607454	Spinocerebellar ataxia 21			9
HP:0000496	HP:0000514	Slow saccadic eye movements	2	TMEM240 CL E G H	339453	25186	OMIM:607454	Spinocerebellar ataxia 21	.		9
HP:0000496	HP:0000639	Nystagmus	2	TMEM240 CL E G H	339453	25186	OMIM:607454	Spinocerebellar ataxia 21			9
HP:0000496	HP:0001152	Saccadic smooth pursuit	2	TMEM240 CL E G H	339453	25186	OMIM:607454	Spinocerebellar ataxia 21			9
HP:0000496	HP:0007338	Hypermetric saccades	2	TMEM240 CL E G H	339453	25186	OMIM:607454	Spinocerebellar ataxia 21			9
HP:0000496	HP:0010543	Opsoclonus	2	TMEM240 CL E G H	339453	25186	OMIM:607454	Spinocerebellar ataxia 21			9
HP:0000496	HP:0032104	Saccadic oscillation	2	TMEM240 CL E G H	339453	25186	OMIM:607454	Spinocerebellar ataxia 21			9
HP:0000496	HP:0000639	Nystagmus	2	TMEM240 CL E G H	339453	25186	ORPHA:98773	Spinocerebellar ataxia type 21	HP:0040282 - Frequent		9
HP:0000496	HP:0001152	Saccadic smooth pursuit	2	TMEM240 CL E G H	339453	25186	ORPHA:98773	Spinocerebellar ataxia type 21			9
HP:0000496	HP:0000486	Strabismus	2	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0000496	HP:0000639	Nystagmus	2	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome
HP:0000496	HP:0000486	Strabismus	2	TMEM53 CL E G H	79639	26186	OMIM:619727	CRANIOTUBULAR DYSPLASIA, IKEGAWA TYPE; CTDI
HP:0000496	HP:0000639	Nystagmus	2	TMEM63A CL E G H	9725	29118	OMIM:618688	LEUKODYSTROPHY, HYPOMYELINATING, 19, TRANSIENT INFANTILE; HLD19
HP:0000496	HP:0000486	Strabismus	2	TMEM63C CL E G H	57156	23787	OMIM:619966
HP:0000496	HP:0000639	Nystagmus	2	TMEM63C CL E G H	57156	23787	OMIM:619966
HP:0000496	HP:0000639	Nystagmus	2	TMEM67 CL E G H	91147	28396	OMIM:615991	Bardet-Biedl syndrome 14			166
HP:0000496	HP:0000639	Nystagmus	2	TMEM67 CL E G H	91147	28396	OMIM:216360	Coach syndrome 1			166
HP:0000496	HP:0000486	Strabismus	2	TMEM67 CL E G H	91147	28396	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional		166
HP:0000496	HP:0000639	Nystagmus	2	TMEM67 CL E G H	91147	28396	ORPHA:475	Joubert syndrome	HP:0040282 - Frequent		166
HP:0000496	HP:0000486	Strabismus	2	TMEM67 CL E G H	91147	28396	ORPHA:1454	Joubert syndrome with hepatic defect	HP:0040283 - Occasional		166
HP:0000496	HP:0000639	Nystagmus	2	TMEM67 CL E G H	91147	28396	ORPHA:1454	Joubert syndrome with hepatic defect	HP:0040282 - Frequent		166
HP:0000496	HP:0000486	Strabismus	2	TMEM67 CL E G H	91147	28396	OMIM:613550	NEPHRONOPHTHISIS 11; NPHP11			166
HP:0000496	HP:0000639	Nystagmus	2	TMEM67 CL E G H	91147	28396	OMIM:613550	NEPHRONOPHTHISIS 11; NPHP11			166
HP:0000496	HP:0000486	Strabismus	2	TMEM67 CL E G H	91147	28396	OMIM:602152	Rhyns syndrome			166
HP:0000496	HP:0000486	Strabismus	2	TMEM94 CL E G H	9772	28983	OMIM:618316	Intellectual developmental disorder with cardiac defects and dysmorphic facies	.		1
HP:0000496	HP:0000486	Strabismus	2	TMEM98 CL E G H	26022	24529	ORPHA:35612	Nanophthalmos	HP:0040281 - Very frequent		3
HP:0000496	HP:0000639	Nystagmus	2	TNFRSF11A CL E G H	8792	11908	ORPHA:1782	Dysosteosclerosis	HP:0040281 - Very frequent		72
HP:0000496	HP:0000639	Nystagmus	2	TNFRSF11A CL E G H	8792	11908	OMIM:612301	OSTEOPETROSIS, AUTOSOMAL RECESSIVE 7; OPTB7			72
HP:0000496	HP:0000639	Nystagmus	2	TNFSF11 CL E G H	8600	11926	ORPHA:667	Autosomal recessive malignant osteopetrosis	HP:0040281 - Very frequent		44
HP:0000496	HP:0010543	Opsoclonus	2	TNFSF11 CL E G H	8600	11926	ORPHA:667	Autosomal recessive malignant osteopetrosis	HP:0040281 - Very frequent		44
HP:0000496	HP:0032104	Saccadic oscillation	2	TNFSF11 CL E G H	8600	11926	ORPHA:667	Autosomal recessive malignant osteopetrosis			44
HP:0000496	HP:0000639	Nystagmus	2	TNFSF11 CL E G H	8600	11926	OMIM:259710	Osteopetrosis, autosomal recessive 2			44
HP:0000496	HP:0000486	Strabismus	2	TNPO2 CL E G H	30000	19998	OMIM:619556	INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA, IMPAIRED SPEECH, AND DYSMORPHIC FACIES; IDDHISD
HP:0000496	HP:0000514	Slow saccadic eye movements	2	TNR CL E G H	7143	11953	OMIM:619653	NEURODEVELOPMENTAL DISORDER, NONPROGRESSIVE, WITH SPASTICITY AND TRANSIENT OPISTHOTONUS; NEDSTO			7
HP:0000496	HP:0000639	Nystagmus	2	TOE1 CL E G H	114034	15954	ORPHA:284339	Pontocerebellar hypoplasia type 7	HP:0040283 - Occasional		6
HP:0000496	HP:0000639	Nystagmus	2	TOE1 CL E G H	114034	15954	OMIM:614969	Pontocerebellar hypoplasia, type 7	.		6
HP:0000496	HP:0000486	Strabismus	2	TOGARAM1 CL E G H	23116	19959	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional
HP:0000496	HP:0000639	Nystagmus	2	TOGARAM1 CL E G H	23116	19959	ORPHA:475	Joubert syndrome	HP:0040282 - Frequent
HP:0000496	HP:0000639	Nystagmus	2	TONSL CL E G H	4796	7801	ORPHA:93357	SPONASTRIME dysplasia	HP:0040283 - Occasional
HP:0000496	HP:0000602	Ophthalmoplegia	2	TOP3A CL E G H	7156	11992	OMIM:618098	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5
HP:0000496	HP:0000486	Strabismus	2	TOPORS CL E G H	10210	21653	ORPHA:2754	Orofaciodigital syndrome type 6			61
HP:0000496	HP:0000639	Nystagmus	2	TOPORS CL E G H	10210	21653	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040282 - Frequent		61
HP:0000496	HP:0000602	Ophthalmoplegia	2	TOPORS CL E G H	10210	21653	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		61
HP:0000496	HP:0000639	Nystagmus	2	TOPORS CL E G H	10210	21653	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		61
HP:0000496	HP:0000486	Strabismus	2	TOR1A CL E G H	1861	3098	OMIM:618947	ARTHROGRYPOSIS MULTIPLEX CONGENITA 5; AMC5			47
HP:0000496	HP:0000602	Ophthalmoplegia	2	TPK1 CL E G H	27010	17358	OMIM:614458	Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type)			21
HP:0000496	HP:0000639	Nystagmus	2	TPK1 CL E G H	27010	17358	OMIM:614458	Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type)			21
HP:0000496	HP:0000602	Ophthalmoplegia	2	TPM2 CL E G H	7169	12011	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		54
HP:0000496	HP:0000602	Ophthalmoplegia	2	TPM2 CL E G H	7169	12011	OMIM:255310	Myopathy, congenital, with fiber-type disproportion			54
HP:0000496	HP:0000602	Ophthalmoplegia	2	TPM3 CL E G H	7170	12012	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		108
HP:0000496	HP:0000602	Ophthalmoplegia	2	TPM3 CL E G H	7170	12012	ORPHA:171433	Intermediate nemaline myopathy	HP:0040283 - Occasional		108
HP:0000496	HP:0000602	Ophthalmoplegia	2	TPM3 CL E G H	7170	12012	OMIM:255310	Myopathy, congenital, with fiber-type disproportion			108
HP:0000496	HP:0000639	Nystagmus	2	TPP1 CL E G H	1200	2073	ORPHA:284324	Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia			203
HP:0000496	HP:0000641	Dysmetric saccades	2	TPP1 CL E G H	1200	2073	ORPHA:284324	Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia	HP:0040282 - Frequent		203
HP:0000496	HP:0001152	Saccadic smooth pursuit	2	TPP1 CL E G H	1200	2073	ORPHA:284324	Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia	HP:0040282 - Frequent		203
HP:0000496	HP:0000639	Nystagmus	2	TPP1 CL E G H	1200	2073	OMIM:609270	Spinocerebellar ataxia, autosomal recessive 7	.		203
HP:0000496	HP:0001152	Saccadic smooth pursuit	2	TPP1 CL E G H	1200	2073	OMIM:609270	Spinocerebellar ataxia, autosomal recessive 7	.		203
HP:0000496	HP:0007338	Hypermetric saccades	2	TPP1 CL E G H	1200	2073	OMIM:609270	Spinocerebellar ataxia, autosomal recessive 7	.		203
HP:0000496	HP:0000486	Strabismus	2	TRAF3IP1 CL E G H	26146	17861	OMIM:616629	Senior-Loken syndrome 9	.		6
HP:0000496	HP:0000639	Nystagmus	2	TRAF3IP1 CL E G H	26146	17861	OMIM:616629	Senior-Loken syndrome 9	.		6
HP:0000496	HP:0000602	Ophthalmoplegia	2	TRAF7 CL E G H	84231	20456	ORPHA:2495	Meningioma	HP:0040283 - Occasional
HP:0000496	HP:0007715	Weak extraocular muscles	2	TRAF7 CL E G H	84231	20456	ORPHA:2495	Meningioma	HP:0040283 - Occasional
HP:0000496	HP:0012246	Oculomotor nerve palsy	2	TRAF7 CL E G H	84231	20456	ORPHA:2495	Meningioma	HP:0040283 - Occasional
HP:0000496	HP:0000639	Nystagmus	2	TRAK1 CL E G H	22906	29947	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional
HP:0000496	HP:0000486	Strabismus	2	TRAPPC11 CL E G H	60684	25751	ORPHA:369847	Intellectual disability-hyperkinetic movement-truncal ataxia syndrome	HP:0040283 - Occasional		27
HP:0000496	HP:0000486	Strabismus	2	TRAPPC11 CL E G H	60684	25751	OMIM:615356	Muscular dystrophy, limb-girdle, autosomal recessive 18	.		27
HP:0000496	HP:0000486	Strabismus	2	TRAPPC11 CL E G H	60684	25751	ORPHA:369840	TRAPPC11-related limb-girdle muscular dystrophy R18			27
HP:0000496	HP:0000486	Strabismus	2	TRAPPC6B CL E G H	122553	23066	OMIM:617862	Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy	.
HP:0000496	HP:0000639	Nystagmus	2	TRAPPC6B CL E G H	122553	23066	OMIM:617862	Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy	.
HP:0000496	HP:0000639	Nystagmus	2	TREX1 CL E G H	11277	12269	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional		56
HP:0000496	HP:0000486	Strabismus	2	TREX1 CL E G H	11277	12269	OMIM:225750	Aicardi-Goutieres syndrome 1	.		56
HP:0000496	HP:0000639	Nystagmus	2	TREX1 CL E G H	11277	12269	OMIM:225750	Aicardi-Goutieres syndrome 1	.		56
HP:0000496	HP:0000639	Nystagmus	2	TRIM32 CL E G H	22954	16380	ORPHA:110	Bardet-Biedl syndrome	HP:0040282 - Frequent		108
HP:0000496	HP:0000486	Strabismus	2	TRIM37 CL E G H	4591	7523	OMIM:253250	Mulibrey nanism			78
HP:0000496	HP:0000639	Nystagmus	2	TRIM44 CL E G H	54765	19016	ORPHA:250923	Isolated aniridia	HP:0040281 - Very frequent		1
HP:0000496	HP:0000486	Strabismus	2	TRIM8 CL E G H	81603	15579	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare		1
HP:0000496	HP:0000486	Strabismus	2	TRIO CL E G H	7204	12303	ORPHA:476126	Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome	HP:0040283 - Occasional		8
HP:0000496	HP:0000486	Strabismus	2	TRIP11 CL E G H	9321	12305	ORPHA:166272	Odontochondrodysplasia	HP:0040283 - Occasional		133
HP:0000496	HP:0000486	Strabismus	2	TRIP12 CL E G H	9320	12306	OMIM:617752	Mental retardation, autosomal dominant 49	.		2
HP:0000496	HP:0000639	Nystagmus	2	TRIP13 CL E G H	9319	12307	OMIM:617598	Mosaic variegated aneuploidy syndrome 3			2
HP:0000496	HP:0000486	Strabismus	2	TRIT1 CL E G H	54802	20286	OMIM:617873	Combined oxidative phosphorylation deficiency 35			12
HP:0000496	HP:0000602	Ophthalmoplegia	2	TRNC CL E G H	4511	7477	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0000496	HP:0000602	Ophthalmoplegia	2	TRNE CL E G H	4556	7479	ORPHA:225	Maternally-inherited diabetes and deafness
HP:0000496	HP:0000602	Ophthalmoplegia	2	TRNF CL E G H	4558	7481	ORPHA:550	MELAS
HP:0000496	HP:0000602	Ophthalmoplegia	2	TRNF CL E G H	4558	7481	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0000496	HP:0000602	Ophthalmoplegia	2	TRNH CL E G H	4564	7487	ORPHA:550	MELAS
HP:0000496	HP:0000602	Ophthalmoplegia	2	TRNK CL E G H	4566	7489	ORPHA:225	Maternally-inherited diabetes and deafness
HP:0000496	HP:0000639	Nystagmus	2	TRNK CL E G H	4566	7489	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0000496	HP:0000602	Ophthalmoplegia	2	TRNK CL E G H	4566	7489	ORPHA:1349	Mitochondrial DNA-related cardiomyopathy and hearing loss
HP:0000496	HP:0000602	Ophthalmoplegia	2	TRNK CL E G H	4566	7489	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0000496	HP:0000602	Ophthalmoplegia	2	TRNL1 CL E G H	4567	7490	ORPHA:480	Kearns-Sayre syndrome
HP:0000496	HP:0000602	Ophthalmoplegia	2	TRNL1 CL E G H	4567	7490	ORPHA:225	Maternally-inherited diabetes and deafness
HP:0000496	HP:0000602	Ophthalmoplegia	2	TRNL1 CL E G H	4567	7490	ORPHA:550	MELAS
HP:0000496	HP:0000639	Nystagmus	2	TRNL1 CL E G H	4567	7490	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0000496	HP:0000602	Ophthalmoplegia	2	TRNL1 CL E G H	4567	7490	ORPHA:663	Mitochondrial DNA-related progressive external ophthalmoplegia
HP:0000496	HP:0000602	Ophthalmoplegia	2	TRNL1 CL E G H	4567	7490	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0000496	HP:0000602	Ophthalmoplegia	2	TRNL2 CL E G H	4568	7491	ORPHA:663	Mitochondrial DNA-related progressive external ophthalmoplegia
HP:0000496	HP:0000602	Ophthalmoplegia	2	TRNN CL E G H	4570	7493	ORPHA:663	Mitochondrial DNA-related progressive external ophthalmoplegia
HP:0000496	HP:0000602	Ophthalmoplegia	2	TRNQ CL E G H	4572	7495	ORPHA:550	MELAS
HP:0000496	HP:0000602	Ophthalmoplegia	2	TRNQ CL E G H	4572	7495	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0000496	HP:0000602	Ophthalmoplegia	2	TRNS1 CL E G H	4574	7497	ORPHA:550	MELAS
HP:0000496	HP:0000602	Ophthalmoplegia	2	TRNS1 CL E G H	4574	7497	ORPHA:663	Mitochondrial DNA-related progressive external ophthalmoplegia
HP:0000496	HP:0000602	Ophthalmoplegia	2	TRNS1 CL E G H	4574	7497	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0000496	HP:0000602	Ophthalmoplegia	2	TRNS2 CL E G H	4575	7498	ORPHA:550	MELAS
HP:0000496	HP:0000602	Ophthalmoplegia	2	TRNS2 CL E G H	4575	7498	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0000496	HP:0000602	Ophthalmoplegia	2	TRNT CL E G H	4576	7499	ORPHA:254857	Lethal infantile mitochondrial myopathy
HP:0000496	HP:0000639	Nystagmus	2	TRNV CL E G H	4577	7500	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0000496	HP:0000602	Ophthalmoplegia	2	TRNV CL E G H	4577	7500	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0000496	HP:0000602	Ophthalmoplegia	2	TRNW CL E G H	4578	7501	ORPHA:550	MELAS
HP:0000496	HP:0000639	Nystagmus	2	TRNW CL E G H	4578	7501	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0000496	HP:0000602	Ophthalmoplegia	2	TRNW CL E G H	4578	7501	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0000496	HP:0000486	Strabismus	2	TRPM1 CL E G H	4308	7146	ORPHA:215	Congenital stationary night blindness	HP:0040282 - Frequent		104
HP:0000496	HP:0000639	Nystagmus	2	TRPM1 CL E G H	4308	7146	ORPHA:215	Congenital stationary night blindness	HP:0040282 - Frequent		104
HP:0000496	HP:0000486	Strabismus	2	TRPM1 CL E G H	4308	7146	OMIM:613216	NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1C; CSNB1C			104
HP:0000496	HP:0000639	Nystagmus	2	TRPM1 CL E G H	4308	7146	OMIM:613216	NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1C; CSNB1C			104
HP:0000496	HP:0012246	Oculomotor nerve palsy	2	TRPV4 CL E G H	59341	18083	OMIM:606071	Hereditary motor and sensory neuropathy, type IIC	.		214
HP:0000496	HP:0000486	Strabismus	2	TSEN15 CL E G H	116461	16791	OMIM:617026	Pontocerebellar hypoplasia, type 2F	HP:0040283 - Occasional		3
HP:0000496	HP:0007772	Impaired smooth pursuit	2	TSEN54 CL E G H	283989	27561	OMIM:277470	Pontocerebellar hypoplasia, type 2A	.		102
HP:0000496	HP:0000639	Nystagmus	2	TSPAN7 CL E G H	7102	11854	OMIM:300210	MENTAL RETARDATION, X-LINKED 58; MRX58			26
HP:0000496	HP:0000602	Ophthalmoplegia	2	TSPYL1 CL E G H	7259	12382	ORPHA:168593	Sudden infant death-dysgenesis of the testes syndrome	HP:0040282 - Frequent		1
HP:0000496	HP:0000486	Strabismus	2	TSR2 CL E G H	90121	25455	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare		1
HP:0000496	HP:0000639	Nystagmus	2	TTBK2 CL E G H	146057	19141	OMIM:604432	Spinocerebellar ataxia 11	.		57
HP:0000496	HP:0000639	Nystagmus	2	TTBK2 CL E G H	146057	19141	ORPHA:98767	Spinocerebellar ataxia type 11			57
HP:0000496	HP:0008003	Jerky ocular pursuit movements	2	TTBK2 CL E G H	146057	19141	ORPHA:98767	Spinocerebellar ataxia type 11	HP:0040281 - Very frequent		57
HP:0000496	HP:0000639	Nystagmus	2	TTC19 CL E G H	54902	26006	OMIM:615157	Mitochondrial complex III deficiency, nuclear type 2	.		88
HP:0000496	HP:0000639	Nystagmus	2	TTC8 CL E G H	123016	20087	ORPHA:110	Bardet-Biedl syndrome	HP:0040282 - Frequent		41
HP:0000496	HP:0000602	Ophthalmoplegia	2	TTC8 CL E G H	123016	20087	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		41
HP:0000496	HP:0000639	Nystagmus	2	TTC8 CL E G H	123016	20087	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		41
HP:0000496	HP:0000486	Strabismus	2	TTI2 CL E G H	80185	26262	OMIM:615541	Mental retardation, autosomal recessive 39	.		11
HP:0000496	HP:0000486	Strabismus	2	TTI2 CL E G H	80185	26262	ORPHA:391307	Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome	HP:0040283 - Occasional		11
HP:0000496	HP:0000602	Ophthalmoplegia	2	TTN CL E G H	7273	12403	ORPHA:169186	Autosomal recessive centronuclear myopathy	HP:0040283 - Occasional		7128
HP:0000496	HP:0000639	Nystagmus	2	TTPA CL E G H	7274	12404	ORPHA:96	Ataxia with vitamin E deficiency	HP:0040282 - Frequent		62
HP:0000496	HP:0000639	Nystagmus	2	TTR CL E G H	7276	12405	OMIM:105210	Amyloidosis, hereditary, transthyretin-related	.		107
HP:0000496	HP:0000602	Ophthalmoplegia	2	TUB CL E G H	7275	12406	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		1
HP:0000496	HP:0000639	Nystagmus	2	TUB CL E G H	7275	12406	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		1
HP:0000496	HP:0000486	Strabismus	2	TUBA1A CL E G H	7846	20766	ORPHA:171680	Lissencephaly due to TUBA1A mutation			106
HP:0000496	HP:0000639	Nystagmus	2	TUBA1A CL E G H	7846	20766	ORPHA:171680	Lissencephaly due to TUBA1A mutation			106
HP:0000496	HP:0000486	Strabismus	2	TUBA1A CL E G H	7846	20766	ORPHA:467166	Tubulinopathy-associated dysgyria			106
HP:0000496	HP:0000486	Strabismus	2	TUBB2B CL E G H	347733	30829	ORPHA:1766	Dysequilibrium syndrome	HP:0040282 - Frequent		39
HP:0000496	HP:0000486	Strabismus	2	TUBB2B CL E G H	347733	30829	ORPHA:300573	Polymicrogyria due to TUBB2B mutation	HP:0040283 - Occasional		39
HP:0000496	HP:0000486	Strabismus	2	TUBB2B CL E G H	347733	30829	ORPHA:467166	Tubulinopathy-associated dysgyria			39
HP:0000496	HP:0000486	Strabismus	2	TUBB3 CL E G H	10381	20772	ORPHA:300570	Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation	HP:0040282 - Frequent		64
HP:0000496	HP:0000639	Nystagmus	2	TUBB3 CL E G H	10381	20772	ORPHA:300570	Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation	HP:0040282 - Frequent		64
HP:0000496	HP:0000486	Strabismus	2	TUBB3 CL E G H	10381	20772	OMIM:614039	Cortical dysplasia, complex, with other brain malformations 1	.		64
HP:0000496	HP:0000639	Nystagmus	2	TUBB3 CL E G H	10381	20772	OMIM:614039	Cortical dysplasia, complex, with other brain malformations 1	.		64
HP:0000496	HP:0000486	Strabismus	2	TUBB3 CL E G H	10381	20772	OMIM:600638	Fibrosis of extraocular muscles, congenital, 3A, with or without extraocularinvolvement			64
HP:0000496	HP:0000602	Ophthalmoplegia	2	TUBB3 CL E G H	10381	20772	OMIM:600638	Fibrosis of extraocular muscles, congenital, 3A, with or without extraocularinvolvement			64
HP:0000496	HP:0001477	Compensatory chin elevation	2	TUBB3 CL E G H	10381	20772	OMIM:600638	Fibrosis of extraocular muscles, congenital, 3A, with or without extraocularinvolvement	.		64
HP:0000496	HP:0000486	Strabismus	2	TUBB3 CL E G H	10381	20772	ORPHA:467166	Tubulinopathy-associated dysgyria			64
HP:0000496	HP:0000639	Nystagmus	2	TUBB4A CL E G H	10382	20774	OMIM:612438	Leukodystrophy, hypomyelinating, 6	HP:0040283 - Occasional		66
HP:0000496	HP:0000639	Nystagmus	2	TUBB4B CL E G H	10383	20771	ORPHA:65	Leber congenital amaurosis	HP:0040282 - Frequent
HP:0000496	HP:0000639	Nystagmus	2	TUBB4B CL E G H	10383	20771	OMIM:617879	Leber congenital amaurosis with early-onset deafness
HP:0000496	HP:0000486	Strabismus	2	TUBGCP4 CL E G H	27229	16691	ORPHA:2518	Autosomal recessive chorioretinopathy-microcephaly syndrome	HP:0040282 - Frequent		14
HP:0000496	HP:0000639	Nystagmus	2	TUBGCP4 CL E G H	27229	16691	ORPHA:2518	Autosomal recessive chorioretinopathy-microcephaly syndrome	HP:0040282 - Frequent		14
HP:0000496	HP:0000639	Nystagmus	2	TUBGCP4 CL E G H	27229	16691	OMIM:616335	Microcephaly and chorioretinopathy, autosomal recessive, 3	.		14
HP:0000496	HP:0000486	Strabismus	2	TUBGCP6 CL E G H	85378	18127	ORPHA:2518	Autosomal recessive chorioretinopathy-microcephaly syndrome	HP:0040282 - Frequent		61
HP:0000496	HP:0000639	Nystagmus	2	TUBGCP6 CL E G H	85378	18127	ORPHA:2518	Autosomal recessive chorioretinopathy-microcephaly syndrome	HP:0040282 - Frequent		61
HP:0000496	HP:0000639	Nystagmus	2	TUBGCP6 CL E G H	85378	18127	OMIM:251270	Microcephaly and chorioretinopathy, autosomal recessive, 1	HP:0040283 - Occasional		61
HP:0000496	HP:0000639	Nystagmus	2	TUFM CL E G H	7284	12420	OMIM:610678	Combined oxidative phosphorylation deficiency 4			55
HP:0000496	HP:0000639	Nystagmus	2	TULP1 CL E G H	7287	12423	ORPHA:65	Leber congenital amaurosis	HP:0040282 - Frequent		66
HP:0000496	HP:0000639	Nystagmus	2	TULP1 CL E G H	7287	12423	OMIM:613843	Leber congenital amaurosis 15	.	HP:0003577 - Congenital onset	66
HP:0000496	HP:0007772	Impaired smooth pursuit	2	TULP1 CL E G H	7287	12423	OMIM:613843	Leber congenital amaurosis 15	.		66
HP:0000496	HP:0000602	Ophthalmoplegia	2	TULP1 CL E G H	7287	12423	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		66
HP:0000496	HP:0000639	Nystagmus	2	TULP1 CL E G H	7287	12423	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		66
HP:0000496	HP:0000639	Nystagmus	2	TULP1 CL E G H	7287	12423	OMIM:600132	RETINITIS PIGMENTOSA 14; RP14			66
HP:0000496	HP:0000486	Strabismus	2	TWIST1 CL E G H	7291	12428	OMIM:180750	Robinow-Sorauf syndrome	.		18
HP:0000496	HP:0000486	Strabismus	2	TWIST1 CL E G H	7291	12428	OMIM:101400	Saethre-Chotzen syndrome	.		18
HP:0000496	HP:0000486	Strabismus	2	TWIST1 CL E G H	7291	12428	ORPHA:794	Saethre-Chotzen syndrome	HP:0040282 - Frequent		18
HP:0000496	HP:0000486	Strabismus	2	TWIST2 CL E G H	117581	20670	ORPHA:1807	Focal facial dermal dysplasia type III	HP:0040283 - Occasional		7
HP:0000496	HP:0000602	Ophthalmoplegia	2	TWNK CL E G H	56652	1160	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040282 - Frequent		113
HP:0000496	HP:0000602	Ophthalmoplegia	2	TWNK CL E G H	56652	1160	ORPHA:1186	Infantile-onset spinocerebellar ataxia	HP:0040281 - Very frequent		113
HP:0000496	HP:0000602	Ophthalmoplegia	2	TWNK CL E G H	56652	1160	OMIM:271245	Mitochondrial DNA depletion syndrome 7 (hepatocerebral type)	.		113
HP:0000496	HP:0000639	Nystagmus	2	TWNK CL E G H	56652	1160	OMIM:271245	Mitochondrial DNA depletion syndrome 7 (hepatocerebral type)	.		113
HP:0000496	HP:0000602	Ophthalmoplegia	2	TWNK CL E G H	56652	1160	OMIM:616138	Perrault syndrome 5	.		113
HP:0000496	HP:0000639	Nystagmus	2	TWNK CL E G H	56652	1160	OMIM:616138	Perrault syndrome 5	.		113
HP:0000496	HP:0000602	Ophthalmoplegia	2	TWNK CL E G H	56652	1160	OMIM:609286	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3			113
HP:0000496	HP:0000602	Ophthalmoplegia	2	TWNK CL E G H	56652	1160	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis			113
HP:0000496	HP:0000639	Nystagmus	2	TWNK CL E G H	56652	1160	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis	.		113
HP:0000496	HP:0000605	Supranuclear gaze palsy	2	TWNK CL E G H	56652	1160	ORPHA:70595	Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome			113
HP:0000496	HP:0000639	Nystagmus	2	TWNK CL E G H	56652	1160	ORPHA:70595	Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome	HP:0040282 - Frequent		113
HP:0000496	HP:0000602	Ophthalmoplegia	2	TYMP CL E G H	1890	3148	OMIM:603041	Mitochondrial DNA depletion syndrome 1 (mngie type)			138
HP:0000496	HP:0000602	Ophthalmoplegia	2	TYMP CL E G H	1890	3148	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy			138
HP:0000496	HP:0000486	Strabismus	2	TYR CL E G H	7299	12442	OMIM:203100	Albinism, oculocutaneous, type IA	.		146
HP:0000496	HP:0000639	Nystagmus	2	TYR CL E G H	7299	12442	OMIM:203100	Albinism, oculocutaneous, type IA	.		146
HP:0000496	HP:0000639	Nystagmus	2	TYR CL E G H	7299	12442	OMIM:606952	Albinism, oculocutaneous, type IB	.		146
HP:0000496	HP:0000639	Nystagmus	2	TYR CL E G H	7299	12442	ORPHA:79431	Oculocutaneous albinism type 1A	HP:0040281 - Very frequent		146
HP:0000496	HP:0000486	Strabismus	2	TYR CL E G H	7299	12442	ORPHA:79434	Oculocutaneous albinism type 1B	HP:0040281 - Very frequent		146
HP:0000496	HP:0000639	Nystagmus	2	TYR CL E G H	7299	12442	ORPHA:79434	Oculocutaneous albinism type 1B	HP:0040282 - Frequent		146
HP:0000496	HP:0000486	Strabismus	2	TYRP1 CL E G H	7306	12450	OMIM:203290	Albinism, oculocutaneous, type III	.		62
HP:0000496	HP:0000639	Nystagmus	2	TYRP1 CL E G H	7306	12450	OMIM:203290	Albinism, oculocutaneous, type III	.		62
HP:0000496	HP:0000486	Strabismus	2	TYRP1 CL E G H	7306	12450	ORPHA:79433	Oculocutaneous albinism type 3	HP:0040283 - Occasional		62
HP:0000496	HP:0000639	Nystagmus	2	TYRP1 CL E G H	7306	12450	ORPHA:79433	Oculocutaneous albinism type 3	HP:0040282 - Frequent		62
HP:0000496	HP:0000486	Strabismus	2	UBA2 CL E G H	10054	30661	OMIM:619959
HP:0000496	HP:0000639	Nystagmus	2	UBA5 CL E G H	79876	23230	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		13
HP:0000496	HP:0000639	Nystagmus	2	UBA5 CL E G H	79876	23230	OMIM:617133	Spinocerebellar ataxia, autosomal recessive 24	.		13
HP:0000496	HP:0000639	Nystagmus	2	UBAP1 CL E G H	51271	12461	OMIM:618418	Spastic paraplegia 80, autosomal dominant
HP:0000496	HP:0000641	Dysmetric saccades	2	UBAP1 CL E G H	51271	12461	OMIM:618418	Spastic paraplegia 80, autosomal dominant	HP:0040284 - Very rare
HP:0000496	HP:0000486	Strabismus	2	UBE2A CL E G H	7319	12472	ORPHA:163956	X-linked intellectual disability, Nascimento type	HP:0040283 - Occasional		7
HP:0000496	HP:0000486	Strabismus	2	UBE2T CL E G H	29089	25009	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		2
HP:0000496	HP:0000639	Nystagmus	2	UBE2T CL E G H	29089	25009	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		2
HP:0000496	HP:0000486	Strabismus	2	UBE3A CL E G H	7337	12496	OMIM:105830	Angelman syndrome			278
HP:0000496	HP:0000639	Nystagmus	2	UBE3A CL E G H	7337	12496	OMIM:105830	Angelman syndrome			278
HP:0000496	HP:0000486	Strabismus	2	UBE3A CL E G H	7337	12496	ORPHA:411511	Angelman syndrome due to a point mutation	HP:0040283 - Occasional		278
HP:0000496	HP:0000486	Strabismus	2	UBE3A CL E G H	7337	12496	ORPHA:98794	Angelman syndrome due to maternal 15q11q13 deletion	HP:0040282 - Frequent		278
HP:0000496	HP:0000486	Strabismus	2	UBE3B CL E G H	89910	13478	OMIM:244450	Kaufman oculocerebrofacial syndrome	.		13
HP:0000496	HP:0000639	Nystagmus	2	UBE3B CL E G H	89910	13478	OMIM:244450	Kaufman oculocerebrofacial syndrome			13
HP:0000496	HP:0000486	Strabismus	2	UBE3B CL E G H	89910	13478	ORPHA:2707	Oculocerebrofacial syndrome, Kaufman type	HP:0040282 - Frequent		13
HP:0000496	HP:0000639	Nystagmus	2	UBE3B CL E G H	89910	13478	ORPHA:2707	Oculocerebrofacial syndrome, Kaufman type	HP:0040282 - Frequent		13
HP:0000496	HP:0000486	Strabismus	2	UBE4B CL E G H	10277	12500	ORPHA:1606	1p36 deletion syndrome	HP:0040282 - Frequent
HP:0000496	HP:0000639	Nystagmus	2	UBE4B CL E G H	10277	12500	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0000496	HP:0000486	Strabismus	2	UBR1 CL E G H	197131	16808	OMIM:243800	Johanson-Blizzard syndrome	.		25
HP:0000496	HP:0000639	Nystagmus	2	UCHL1 CL E G H	7345	12513	OMIM:615491	Spastic paraplegia 79, autosomal recessive	.		21
HP:0000496	HP:0000486	Strabismus	2	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional
HP:0000496	HP:0000486	Strabismus	2	UFSP2 CL E G H	55325	25640	OMIM:620028				2
HP:0000496	HP:0000639	Nystagmus	2	UGP2 CL E G H	7360	12527	OMIM:618744	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 83; DEE83
HP:0000496	HP:0012246	Oculomotor nerve palsy	2	UGT1A1 CL E G H	54658	12530	ORPHA:79234	Crigler-Najjar syndrome type 1	HP:0040283 - Occasional		73
HP:0000496	HP:0000486	Strabismus	2	UNC80 CL E G H	285175	26582	OMIM:616801	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2			23
HP:0000496	HP:0000639	Nystagmus	2	UNC80 CL E G H	285175	26582	OMIM:616801	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2	.		23
HP:0000496	HP:0000486	Strabismus	2	UNC80 CL E G H	285175	26582	ORPHA:371364	Hypotonia-speech impairment-severe cognitive delay syndrome	HP:0040281 - Very frequent		23
HP:0000496	HP:0000639	Nystagmus	2	UNC80 CL E G H	285175	26582	ORPHA:371364	Hypotonia-speech impairment-severe cognitive delay syndrome	HP:0040283 - Occasional		23
HP:0000496	HP:0000639	Nystagmus	2	UROC1 CL E G H	131669	26444	OMIM:276880	Urocanase deficiency	HP:0040283 - Occasional		8
HP:0000496	HP:0000639	Nystagmus	2	UROC1 CL E G H	131669	26444	ORPHA:210128	Urocanic aciduria			8
HP:0000496	HP:0000639	Nystagmus	2	USH1C CL E G H	10083	12597	OMIM:276900	Usher syndrome, type I			173
HP:0000496	HP:0000602	Ophthalmoplegia	2	USH2A CL E G H	7399	12601	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		777
HP:0000496	HP:0000639	Nystagmus	2	USH2A CL E G H	7399	12601	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		777
HP:0000496	HP:0000639	Nystagmus	2	USH2A CL E G H	7399	12601	ORPHA:231178	Usher syndrome type 2	HP:0040283 - Occasional		777
HP:0000496	HP:0000639	Nystagmus	2	USP45 CL E G H	85015	20080	ORPHA:65	Leber congenital amaurosis	HP:0040282 - Frequent
HP:0000496	HP:0000639	Nystagmus	2	USP45 CL E G H	85015	20080	OMIM:618513	LEBER CONGENITAL AMAUROSIS 19; LCA19
HP:0000496	HP:0000486	Strabismus	2	USP7 CL E G H	7874	12630	ORPHA:500055	16p13.2 microdeletion syndrome	HP:0040283 - Occasional		2
HP:0000496	HP:0000639	Nystagmus	2	USP7 CL E G H	7874	12630	ORPHA:500055	16p13.2 microdeletion syndrome	HP:0040283 - Occasional		2
HP:0000496	HP:0000486	Strabismus	2	USP7 CL E G H	7874	12630	OMIM:616863	Chromosome 16p13.2 deletion syndrome			2
HP:0000496	HP:0000639	Nystagmus	2	USP8 CL E G H	9101	12631	ORPHA:401795	Autosomal recessive spastic paraplegia type 59	HP:0040282 - Frequent		7
HP:0000496	HP:0000486	Strabismus	2	USP9X CL E G H	8239	12632	OMIM:300968	Mental retardation, X-linked 99, syndromic, female-restricted	.		27
HP:0000496	HP:0000486	Strabismus	2	USP9X CL E G H	8239	12632	ORPHA:480880	X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability	HP:0040283 - Occasional		27
HP:0000496	HP:0000514	Slow saccadic eye movements	2	VAMP1 CL E G H	6843	12642	ORPHA:251282	Autosomal dominant spastic ataxia type 1	HP:0040282 - Frequent		2
HP:0000496	HP:0000605	Supranuclear gaze palsy	2	VAMP1 CL E G H	6843	12642	ORPHA:251282	Autosomal dominant spastic ataxia type 1	HP:0040281 - Very frequent		2
HP:0000496	HP:0000486	Strabismus	2	VAMP1 CL E G H	6843	12642	OMIM:618323	Myasthenic syndrome, congenital, 25, presynaptic	.		2
HP:0000496	HP:0000486	Strabismus	2	VAMP1 CL E G H	6843	12642	ORPHA:98914	Presynaptic congenital myasthenic syndromes			2
HP:0000496	HP:0000602	Ophthalmoplegia	2	VAMP1 CL E G H	6843	12642	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent		2
HP:0000496	HP:0000639	Nystagmus	2	VAMP1 CL E G H	6843	12642	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040284 - Very rare		2
HP:0000496	HP:0000514	Slow saccadic eye movements	2	VAMP1 CL E G H	6843	12642	OMIM:108600	Spastic ataxia 1, autosomal dominant	.		2
HP:0000496	HP:0000605	Supranuclear gaze palsy	2	VAMP1 CL E G H	6843	12642	OMIM:108600	Spastic ataxia 1, autosomal dominant	.		2
HP:0000496	HP:0000602	Ophthalmoplegia	2	VARS2 CL E G H	57176	21642	OMIM:615917	Combined oxidative phosphorylation deficiency 20			56
HP:0000496	HP:0000605	Supranuclear gaze palsy	2	VCP CL E G H	7415	12666	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040283 - Occasional		63
HP:0000496	HP:0000486	Strabismus	2	VLDLR CL E G H	7436	12698	OMIM:224050	Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1	.		111
HP:0000496	HP:0000639	Nystagmus	2	VLDLR CL E G H	7436	12698	OMIM:224050	Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1			111
HP:0000496	HP:0000486	Strabismus	2	VLDLR CL E G H	7436	12698	ORPHA:1766	Dysequilibrium syndrome	HP:0040282 - Frequent		111
HP:0000496	HP:0000514	Slow saccadic eye movements	2	VPS13A CL E G H	23230	1908	ORPHA:2388	Choreoacanthocytosis	HP:0040283 - Occasional		130
HP:0000496	HP:0000605	Supranuclear gaze palsy	2	VPS13A CL E G H	23230	1908	ORPHA:2388	Choreoacanthocytosis			130
HP:0000496	HP:0032114	Saccadic intrusion	2	VPS13A CL E G H	23230	1908	ORPHA:2388	Choreoacanthocytosis			130
HP:0000496	HP:0000486	Strabismus	2	VPS13B CL E G H	157680	2183	ORPHA:193	Cohen syndrome	HP:0040283 - Occasional		546
HP:0000496	HP:0000639	Nystagmus	2	VPS13B CL E G H	157680	2183	ORPHA:193	Cohen syndrome	HP:0040283 - Occasional		546
HP:0000496	HP:0007338	Hypermetric saccades	2	VPS13D CL E G H	55187	23595	ORPHA:95434	Autosomal recessive cerebellar ataxia-movement disorder syndrome	HP:0040282 - Frequent
HP:0000496	HP:0000639	Nystagmus	2	VPS13D CL E G H	55187	23595	OMIM:607317	Spinocerebellar ataxia, autosomal recessive 4	.
HP:0000496	HP:0007338	Hypermetric saccades	2	VPS13D CL E G H	55187	23595	OMIM:607317	Spinocerebellar ataxia, autosomal recessive 4	.
HP:0000496	HP:0032104	Saccadic oscillation	2	VPS13D CL E G H	55187	23595	OMIM:607317	Spinocerebellar ataxia, autosomal recessive 4
HP:0000496	HP:0000639	Nystagmus	2	VPS33A CL E G H	65082	18179	ORPHA:505248	Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders	HP:0040283 - Occasional		1
HP:0000496	HP:0000639	Nystagmus	2	VPS33A CL E G H	65082	18179	OMIM:617303	Mucopolysaccharidosis-Plus syndrome			1
HP:0000496	HP:0000486	Strabismus	2	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0000496	HP:0000639	Nystagmus	2	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome
HP:0000496	HP:0007338	Hypermetric saccades	2	VPS41 CL E G H	27072	12713	ORPHA:95434	Autosomal recessive cerebellar ataxia-movement disorder syndrome	HP:0040282 - Frequent
HP:0000496	HP:0000639	Nystagmus	2	VPS41 CL E G H	27072	12713	OMIM:619389	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 29; SCAR29
HP:0000496	HP:0025405	Visual fixation instability	2	VPS4A CL E G H	27183	13488	OMIM:619273	CIMDAG SYNDROME; CIMDAG			1
HP:0000496	HP:0000486	Strabismus	2	VPS50 CL E G H	55610	25956	OMIM:619685	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND NEONATAL CHOLESTASIS; NEDMSC
HP:0000496	HP:0000486	Strabismus	2	VPS51 CL E G H	738	1172	OMIM:618606	PONTOCEREBELLAR HYPOPLASIA, TYPE 13; PCH13
HP:0000496	HP:0000486	Strabismus	2	VPS53 CL E G H	55275	25608	OMIM:615851	Pontocerebellar hypoplasia, type 2E			26
HP:0000496	HP:0000486	Strabismus	2	VRK1 CL E G H	7443	12718	ORPHA:2254	Pontocerebellar hypoplasia type 1			32
HP:0000496	HP:0000639	Nystagmus	2	VRK1 CL E G H	7443	12718	ORPHA:2254	Pontocerebellar hypoplasia type 1			32
HP:0000496	HP:0000486	Strabismus	2	VSX1 CL E G H	30813	12723	ORPHA:98973	Posterior polymorphous corneal dystrophy			47
HP:0000496	HP:0000639	Nystagmus	2	VWA3B CL E G H	200403	28385	OMIM:616948	Spinocerebellar ataxia, autosomal recessive 22	.		1
HP:0000496	HP:0000486	Strabismus	2	WAC CL E G H	51322	17327	OMIM:616708	Desanto-Shinawi syndrome	.		20
HP:0000496	HP:0000486	Strabismus	2	WAC CL E G H	51322	17327	ORPHA:284169	Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion	HP:0040282 - Frequent		20
HP:0000496	HP:0000486	Strabismus	2	WAC CL E G H	51322	17327	ORPHA:466950	Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation	HP:0040282 - Frequent		20
HP:0000496	HP:0000486	Strabismus	2	WARS2 CL E G H	10352	12730	OMIM:617710	Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures	.		2
HP:0000496	HP:0000639	Nystagmus	2	WARS2 CL E G H	10352	12730	OMIM:617710	Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures	.		2
HP:0000496	HP:0000486	Strabismus	2	WARS2 CL E G H	10352	12730	ORPHA:572798	WARS2-related combined oxidative phosphorylation defect			2
HP:0000496	HP:0000639	Nystagmus	2	WARS2 CL E G H	10352	12730	ORPHA:572798	WARS2-related combined oxidative phosphorylation defect	HP:0040283 - Occasional		2
HP:0000496	HP:0007772	Impaired smooth pursuit	2	WARS2 CL E G H	10352	12730	ORPHA:572798	WARS2-related combined oxidative phosphorylation defect	HP:0040283 - Occasional		2
HP:0000496	HP:0000486	Strabismus	2	WASF1 CL E G H	8936	12732	OMIM:618707	NEURODEVELOPMENTAL DISORDER WITH ABSENT LANGUAGE AND VARIABLE SEIZURES; NEDALVS
HP:0000496	HP:0000486	Strabismus	2	WASHC4 CL E G H	23325	29174	OMIM:615817	Mental retardation, autosomal recessive 43			25
HP:0000496	HP:0000639	Nystagmus	2	WDPCP CL E G H	51057	28027	ORPHA:110	Bardet-Biedl syndrome	HP:0040282 - Frequent		60
HP:0000496	HP:0000639	Nystagmus	2	WDR11 CL E G H	55717	13831	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional		10
HP:0000496	HP:0000639	Nystagmus	2	WDR19 CL E G H	57728	18340	ORPHA:1515	Cranioectodermal dysplasia	HP:0040283 - Occasional		95
HP:0000496	HP:0000486	Strabismus	2	WDR26 CL E G H	80232	21208	ORPHA:513456	Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome	HP:0040283 - Occasional		8
HP:0000496	HP:0000486	Strabismus	2	WDR26 CL E G H	80232	21208	OMIM:617616	Skraban-Deardorff syndrome	.		8
HP:0000496	HP:0000639	Nystagmus	2	WDR35 CL E G H	57539	29250	ORPHA:1515	Cranioectodermal dysplasia	HP:0040283 - Occasional		136
HP:0000496	HP:0000486	Strabismus	2	WDR35 CL E G H	57539	29250	OMIM:613610	Cranioectodermal dysplasia 2			136
HP:0000496	HP:0000639	Nystagmus	2	WDR45 CL E G H	11152	28912	OMIM:615179	Albinism, oculocutaneous, type V	.		51
HP:0000496	HP:0000639	Nystagmus	2	WDR48 CL E G H	57599	30914	ORPHA:401800	Autosomal recessive spastic paraplegia type 60	HP:0040282 - Frequent		1
HP:0000496	HP:0000486	Strabismus	2	WDR73 CL E G H	84942	25928	OMIM:251300	Galloway-mowat syndrome 1			14
HP:0000496	HP:0000639	Nystagmus	2	WDR73 CL E G H	84942	25928	OMIM:251300	Galloway-mowat syndrome 1	.		14
HP:0000496	HP:0000486	Strabismus	2	WDR81 CL E G H	124997	26600	OMIM:610185	Cerebellar ataxia, mental retardation, and dysequilibrium syndrome2	.		27
HP:0000496	HP:0000486	Strabismus	2	WDR81 CL E G H	124997	26600	ORPHA:1766	Dysequilibrium syndrome	HP:0040282 - Frequent		27
HP:0000496	HP:0000602	Ophthalmoplegia	2	WFS1 CL E G H	7466	12762	ORPHA:3463	Wolfram syndrome	HP:0040283 - Occasional		389
HP:0000496	HP:0000639	Nystagmus	2	WFS1 CL E G H	7466	12762	ORPHA:3463	Wolfram syndrome	HP:0040282 - Frequent		389
HP:0000496	HP:0000639	Nystagmus	2	WFS1 CL E G H	7466	12762	OMIM:222300	Wolfram syndrome 1	.		389
HP:0000496	HP:0000639	Nystagmus	2	WHRN CL E G H	25861	16361	ORPHA:231178	Usher syndrome type 2	HP:0040283 - Occasional		155
HP:0000496	HP:0000486	Strabismus	2	WNT5A CL E G H	7474	12784	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040283 - Occasional		98
HP:0000496	HP:0000486	Strabismus	2	WT1 CL E G H	7490	12796	OMIM:106210	Aniridia			177
HP:0000496	HP:0000639	Nystagmus	2	WT1 CL E G H	7490	12796	OMIM:106210	Aniridia			177
HP:0000496	HP:0000639	Nystagmus	2	WT1 CL E G H	7490	12796	ORPHA:893	WAGR syndrome	HP:0040282 - Frequent		177
HP:0000496	HP:0000639	Nystagmus	2	WWOX CL E G H	51741	12799	ORPHA:284282	Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency	HP:0040281 - Very frequent		149
HP:0000496	HP:0000639	Nystagmus	2	WWOX CL E G H	51741	12799	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		149
HP:0000496	HP:0000639	Nystagmus	2	WWOX CL E G H	51741	12799	OMIM:614322	Spinocerebellar ataxia, autosomal recessive 12			149
HP:0000496	HP:0000486	Strabismus	2	XPA CL E G H	7507	12814	ORPHA:910	Xeroderma pigmentosum	HP:0040282 - Frequent		34
HP:0000496	HP:0000486	Strabismus	2	XPC CL E G H	7508	12816	ORPHA:910	Xeroderma pigmentosum	HP:0040282 - Frequent		86
HP:0000496	HP:0000639	Nystagmus	2	XRCC1 CL E G H	7515	12828	OMIM:617633	Spinocerebellar ataxia, autosomal recessive 26	.		4
HP:0000496	HP:0001152	Saccadic smooth pursuit	2	XRCC1 CL E G H	7515	12828	OMIM:617633	Spinocerebellar ataxia, autosomal recessive 26			4
HP:0000496	HP:0007338	Hypermetric saccades	2	XRCC1 CL E G H	7515	12828	OMIM:617633	Spinocerebellar ataxia, autosomal recessive 26	.		4
HP:0000496	HP:0000486	Strabismus	2	XRCC2 CL E G H	7516	12829	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		125
HP:0000496	HP:0000639	Nystagmus	2	XRCC2 CL E G H	7516	12829	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		125
HP:0000496	HP:0000639	Nystagmus	2	XRCC4 CL E G H	7518	12831	OMIM:616541	Short stature, microcephaly, and endocrine dysfunction	.		9
HP:0000496	HP:0007772	Impaired smooth pursuit	2	XRCC4 CL E G H	7518	12831	OMIM:616541	Short stature, microcephaly, and endocrine dysfunction			9
HP:0000496	HP:0000639	Nystagmus	2	XYLT2 CL E G H	64132	15517	ORPHA:85194	Spondylo-ocular syndrome	HP:0040283 - Occasional		5
HP:0000496	HP:0000639	Nystagmus	2	XYLT2 CL E G H	64132	15517	OMIM:605822	Spondyloocular syndrome	.		5
HP:0000496	HP:0000486	Strabismus	2	YAP1 CL E G H	10413	16262	ORPHA:1473	Uveal coloboma-cleft lip and palate-intellectual disability	HP:0040283 - Occasional		2
HP:0000496	HP:0000639	Nystagmus	2	YAP1 CL E G H	10413	16262	ORPHA:1473	Uveal coloboma-cleft lip and palate-intellectual disability	HP:0040283 - Occasional		2
HP:0000496	HP:0000639	Nystagmus	2	YARS1 CL E G H	8565	12840	OMIM:619418	NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2; IMNEPD2
HP:0000496	HP:0000486	Strabismus	2	YARS2 CL E G H	51067	24249	OMIM:613561	Myopathy, lactic acidosis, and sideroblastic anemia 2	.		45
HP:0000496	HP:0000639	Nystagmus	2	YARS2 CL E G H	51067	24249	OMIM:613561	Myopathy, lactic acidosis, and sideroblastic anemia 2	.		45
HP:0000496	HP:0000486	Strabismus	2	YME1L1 CL E G H	10730	12843	OMIM:617302	Optic atrophy 11	.		2
HP:0000496	HP:0000639	Nystagmus	2	YWHAG CL E G H	7532	12852	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional
HP:0000496	HP:0000486	Strabismus	2	YY1 CL E G H	7528	12856	OMIM:617557	Gabriele-De vries syndrome	.		7
HP:0000496	HP:0000486	Strabismus	2	YY1 CL E G H	7528	12856	ORPHA:506358	Gabriele-de Vries syndrome	HP:0040282 - Frequent		7
HP:0000496	HP:0000486	Strabismus	2	ZBTB20 CL E G H	26137	13503	OMIM:259050	Primrose syndrome			17
HP:0000496	HP:0000486	Strabismus	2	ZC4H2 CL E G H	55906	24931	ORPHA:3454	Intellectual disability-developmental delay-contractures syndrome	HP:0040283 - Occasional		19
HP:0000496	HP:0000486	Strabismus	2	ZC4H2 CL E G H	55906	24931	OMIM:314580	Wieacker-Wolff syndrome			19
HP:0000496	HP:0000486	Strabismus	2	ZDHHC9 CL E G H	51114	18475	OMIM:300799	Mental retardation, x-linked syndromic, Raymond type	.		10
HP:0000496	HP:0000486	Strabismus	2	ZEB1 CL E G H	6935	11642	ORPHA:98973	Posterior polymorphous corneal dystrophy			8
HP:0000496	HP:0000486	Strabismus	2	ZEB2 CL E G H	9839	14881	OMIM:235730	Mowat-Wilson syndrome			362
HP:0000496	HP:0000486	Strabismus	2	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation	HP:0040283 - Occasional		362
HP:0000496	HP:0000486	Strabismus	2	ZEB2 CL E G H	9839	14881	ORPHA:261537	Mowat-Wilson syndrome due to monosomy 2q22	HP:0040283 - Occasional		362
HP:0000496	HP:0000486	Strabismus	2	ZFHX4 CL E G H	79776	30939	ORPHA:91411	Congenital ptosis
HP:0000496	HP:0000602	Ophthalmoplegia	2	ZFHX4 CL E G H	79776	30939	ORPHA:91411	Congenital ptosis
HP:0000496	HP:0001477	Compensatory chin elevation	2	ZFHX4 CL E G H	79776	30939	ORPHA:91411	Congenital ptosis
HP:0000496	HP:0000639	Nystagmus	2	ZFYVE26 CL E G H	23503	20761	ORPHA:100996	Autosomal recessive spastic paraplegia type 15	HP:0040282 - Frequent		189
HP:0000496	HP:0001152	Saccadic smooth pursuit	2	ZFYVE26 CL E G H	23503	20761	ORPHA:100996	Autosomal recessive spastic paraplegia type 15	HP:0040283 - Occasional		189
HP:0000496	HP:0000639	Nystagmus	2	ZFYVE26 CL E G H	23503	20761	OMIM:270700	Spastic paraplegia 15, autosomal recessive			189
HP:0000496	HP:0000486	Strabismus	2	ZIC1 CL E G H	7545	12872	OMIM:616602	Craniosynostosis 6	.		5
HP:0000496	HP:0000486	Strabismus	2	ZIC1 CL E G H	7545	12872	OMIM:618736	STRUCTURAL BRAIN ANOMALIES WITH IMPAIRED INTELLECTUAL DEVELOPMENT AND CRANIOSYNOSTOSIS; BAIDCS			5
HP:0000496	HP:0000486	Strabismus	2	ZIC2 CL E G H	7546	12873	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional		34
HP:0000496	HP:0000486	Strabismus	2	ZMIZ1 CL E G H	57178	16493	OMIM:618659	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES; NEDDFSA
HP:0000496	HP:0000486	Strabismus	2	ZNF292 CL E G H	23036	18410	OMIM:619188	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 64; MRD64			3
HP:0000496	HP:0000639	Nystagmus	2	ZNF292 CL E G H	23036	18410	OMIM:619188	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 64; MRD64			3
HP:0000496	HP:0000486	Strabismus	2	ZNF407 CL E G H	55628	19904	OMIM:619557	SHORT STATURE, IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, HYPOTONIA, AND OCULAR ANOMALIES; SIMHA			68
HP:0000496	HP:0000602	Ophthalmoplegia	2	ZNF408 CL E G H	79797	20041	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		14
HP:0000496	HP:0000639	Nystagmus	2	ZNF408 CL E G H	79797	20041	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		14
HP:0000496	HP:0000486	Strabismus	2	ZNF423 CL E G H	23090	16762	ORPHA:2318	Joubert syndrome with oculorenal defect	HP:0040283 - Occasional		49
HP:0000496	HP:0000639	Nystagmus	2	ZNF423 CL E G H	23090	16762	ORPHA:2318	Joubert syndrome with oculorenal defect	HP:0040282 - Frequent		49
HP:0000496	HP:0000602	Ophthalmoplegia	2	ZNF513 CL E G H	130557	26498	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		27
HP:0000496	HP:0000639	Nystagmus	2	ZNF513 CL E G H	130557	26498	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		27
HP:0000496	HP:0000639	Nystagmus	2	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0000496	HP:0000486	Strabismus	2	ZSWIM6 CL E G H	57688	29316	OMIM:617865	Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features	.		5
HP:0000496	HP:0025069	Concomitant strabismus	3	CL E G H
HP:0000496	HP:0025589	Cyclodeviation	3	CL E G H
HP:0000496	HP:0030773	Internuclear ophthalmoplegia	3	CL E G H
HP:0000496	HP:0031768	Parafoveal fixation	3	CL E G H
HP:0000496	HP:0031769	Peripheral fixation	3	CL E G H
HP:0000496	HP:0031775	Neurogenic strabismus	3	CL E G H
HP:0000496	HP:0031832	Hypermetric downward saccades	3	CL E G H
HP:0000496	HP:0032013	Hypermetric horizontal saccades	3	CL E G H
HP:0000496	HP:0032014	Dysmetric vertical saccades	3	CL E G H
HP:0000496	HP:0032015	Dysmetric horizontal saccades	3	CL E G H
HP:0000496	HP:0032116	Macrosquare-wave jerks	3	CL E G H
HP:0000496	HP:0500072	Absolute eccentric fixation	3	CL E G H
HP:0000496	HP:0020045	Esodeviation	3	AARS1 CL E G H	16	20	OMIM:619691	TRICHOTHIODYSTROPHY 8, NONPHOTOSENSITIVE; TTD8
HP:0000496	HP:0000511	Vertical supranuclear gaze palsy	3	AASS CL E G H	10157	17366	ORPHA:2203	Hyperlysinemia			15
HP:0000496	HP:0020045	Esodeviation	3	ABCC9 CL E G H	10060	60	OMIM:619719	INTELLECTUAL DISABILITY AND MYOPATHY SYNDROME; IDMYS			254
HP:0000496	HP:0032012	Heterotropia	3	ABCC9 CL E G H	10060	60	OMIM:619719	INTELLECTUAL DISABILITY AND MYOPATHY SYNDROME; IDMYS			254
HP:0000496	HP:0000544	External ophthalmoplegia	3	ACADS CL E G H	35	90	OMIM:201470	Acyl-Coa dehydrogenase, short-chain, deficiency of	HP:0040283 - Occasional		90
HP:0000496	HP:0020049	Exodeviation	3	ACADSB CL E G H	36	91	OMIM:610006	2-Methylbutyryl-Coa dehydrogenase deficiency			111
HP:0000496	HP:0032012	Heterotropia	3	ACADSB CL E G H	36	91	OMIM:610006	2-Methylbutyryl-Coa dehydrogenase deficiency			111
HP:0000496	HP:0001583	Rotary nystagmus	3	ACBD5 CL E G H	91452	23338	OMIM:618863	RETINAL DYSTROPHY WITH LEUKODYSTROPHY; RDLKD			1
HP:0000496	HP:0025068	Incomitant strabismus	3	ACKR3 CL E G H	57007	23692	OMIM:619215	OCULOMOTOR-ABDUCENS SYNKINESIS; OCABSN
HP:0000496	HP:0000511	Vertical supranuclear gaze palsy	3	ACOX2 CL E G H	8309	120	OMIM:617308	Bile acid synthesis defect, congenital, 6	.		2
HP:0000496	HP:0000666	Horizontal nystagmus	3	ADAR CL E G H	103	225	ORPHA:225154	Familial infantile bilateral striatal necrosis			116
HP:0000496	HP:0006934	Congenital nystagmus	3	ADAR CL E G H	103	225	ORPHA:225154	Familial infantile bilateral striatal necrosis			116
HP:0000496	HP:0012043	Pendular nystagmus	3	ADAR CL E G H	103	225	ORPHA:225154	Familial infantile bilateral striatal necrosis			116
HP:0000496	HP:0020049	Exodeviation	3	ADARB1 CL E G H	104	226	OMIM:618862	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, MICROCEPHALY, AND SEIZURES; NEDHYMS			1
HP:0000496	HP:0032012	Heterotropia	3	ADARB1 CL E G H	104	226	OMIM:618862	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, MICROCEPHALY, AND SEIZURES; NEDHYMS			1
HP:0000496	HP:0020045	Esodeviation	3	ADAT3 CL E G H	113179	25151	OMIM:615286	Mental retardation, autosomal recessive 36			9
HP:0000496	HP:0032012	Heterotropia	3	ADAT3 CL E G H	113179	25151	OMIM:615286	Mental retardation, autosomal recessive 36			9
HP:0000496	HP:0020049	Exodeviation	3	ADD3 CL E G H	120	245	OMIM:617008	Cerebral palsy, spastic quadriplegic, 3			3
HP:0000496	HP:0025711	Convergence-retraction nystagmus	3	ADD3 CL E G H	120	245	OMIM:617008	Cerebral palsy, spastic quadriplegic, 3			3
HP:0000496	HP:0032012	Heterotropia	3	ADD3 CL E G H	120	245	OMIM:617008	Cerebral palsy, spastic quadriplegic, 3			3
HP:0000496	HP:0020045	Esodeviation	3	ADGRG1 CL E G H	9289	4512	ORPHA:101070	Bilateral frontoparietal polymicrogyria			88
HP:0000496	HP:0032012	Heterotropia	3	ADGRG1 CL E G H	9289	4512	ORPHA:101070	Bilateral frontoparietal polymicrogyria			88
HP:0000496	HP:0020045	Esodeviation	3	ADGRG1 CL E G H	9289	4512	OMIM:606854	Polymicrogyria, bilateral frontoparietal			88
HP:0000496	HP:0020049	Exodeviation	3	ADGRG1 CL E G H	9289	4512	OMIM:606854	Polymicrogyria, bilateral frontoparietal			88
HP:0000496	HP:0032012	Heterotropia	3	ADGRG1 CL E G H	9289	4512	OMIM:606854	Polymicrogyria, bilateral frontoparietal			88
HP:0000496	HP:0020049	Exodeviation	3	ADNP CL E G H	23394	15766	ORPHA:404448	ADNP syndrome			47
HP:0000496	HP:0032012	Heterotropia	3	ADNP CL E G H	23394	15766	ORPHA:404448	ADNP syndrome			47
HP:0000496	HP:0020049	Exodeviation	3	AFF4 CL E G H	27125	17869	ORPHA:444077	Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome			6
HP:0000496	HP:0032011	Heterophoria	3	AFF4 CL E G H	27125	17869	ORPHA:444077	Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome			6
HP:0000496	HP:0000640	Gaze-evoked nystagmus	3	AFG3L2 CL E G H	10939	315	OMIM:610246	Spinocerebellar ataxia 28	.		86
HP:0000496	HP:0020045	Esodeviation	3	AGRN CL E G H	375790	329	ORPHA:98914	Presynaptic congenital myasthenic syndromes			127
HP:0000496	HP:0032012	Heterotropia	3	AGRN CL E G H	375790	329	ORPHA:98914	Presynaptic congenital myasthenic syndromes			127
HP:0000496	HP:0000511	Vertical supranuclear gaze palsy	3	AGTPBP1 CL E G H	23287	17258	OMIM:618276	Neurodegeneration, childhood-onset, with cerebellar atrophy			1
HP:0000496	HP:0020045	Esodeviation	3	AGTPBP1 CL E G H	23287	17258	ORPHA:2254	Pontocerebellar hypoplasia type 1			1
HP:0000496	HP:0032012	Heterotropia	3	AGTPBP1 CL E G H	23287	17258	ORPHA:2254	Pontocerebellar hypoplasia type 1			1
HP:0000496	HP:0020045	Esodeviation	3	AHCY CL E G H	191	343	ORPHA:88618	S-adenosylhomocysteine hydrolase deficiency			31
HP:0000496	HP:0032012	Heterotropia	3	AHCY CL E G H	191	343	ORPHA:88618	S-adenosylhomocysteine hydrolase deficiency			31
HP:0000496	HP:0020045	Esodeviation	3	AHDC1 CL E G H	27245	25230	ORPHA:412069	AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome			36
HP:0000496	HP:0010544	Vertical nystagmus	3	AHDC1 CL E G H	27245	25230	ORPHA:412069	AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome			36
HP:0000496	HP:0032012	Heterotropia	3	AHDC1 CL E G H	27245	25230	ORPHA:412069	AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome			36
HP:0000496	HP:0020045	Esodeviation	3	AHDC1 CL E G H	27245	25230	OMIM:615829	Xia-Gibbs syndrome			36
HP:0000496	HP:0032012	Heterotropia	3	AHDC1 CL E G H	27245	25230	OMIM:615829	Xia-Gibbs syndrome			36
HP:0000496	HP:0000666	Horizontal nystagmus	3	AIFM1 CL E G H	9131	8768	ORPHA:83629	Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome	HP:0040283 - Occasional		60
HP:0000496	HP:0007942	Internal ophthalmoplegia	3	AIP CL E G H	9049	358	ORPHA:2965	Prolactinoma	HP:0040283 - Occasional		95
HP:0000496	HP:0012043	Pendular nystagmus	3	AIPL1 CL E G H	23746	359	OMIM:604393	Leber congenital amaurosis 4	.		114
HP:0000496	HP:0000666	Horizontal nystagmus	3	ALDH18A1 CL E G H	5832	9722	ORPHA:447753	Autosomal dominant spastic paraplegia type 9A	HP:0040283 - Occasional		89
HP:0000496	HP:0020049	Exodeviation	3	ALDH3A2 CL E G H	224	403	OMIM:270200	Sjogren-Larsson syndrome			87
HP:0000496	HP:0032012	Heterotropia	3	ALDH3A2 CL E G H	224	403	OMIM:270200	Sjogren-Larsson syndrome			87
HP:0000496	HP:0000511	Vertical supranuclear gaze palsy	3	ALDH4A1 CL E G H	8659	406	ORPHA:79101	Hyperprolinemia type 2	HP:0040283 - Occasional		74
HP:0000496	HP:0000666	Horizontal nystagmus	3	ALG13 CL E G H	79868	30881	OMIM:300884	Epileptic encephalopathy, early infantile, 36	.		96
HP:0000496	HP:0020045	Esodeviation	3	ALG2 CL E G H	85365	23159	ORPHA:79326	ALG2-CDG			46
HP:0000496	HP:0032012	Heterotropia	3	ALG2 CL E G H	85365	23159	ORPHA:79326	ALG2-CDG			46
HP:0000496	HP:0020045	Esodeviation	3	ALG2 CL E G H	85365	23159	OMIM:607906	Congenital disorder of glycosylation, type Ii			46
HP:0000496	HP:0020045	Esodeviation	3	ALG9 CL E G H	79796	15672	ORPHA:79328	ALG9-CDG			93
HP:0000496	HP:0032012	Heterotropia	3	ALG9 CL E G H	79796	15672	ORPHA:79328	ALG9-CDG			93
HP:0000496	HP:0020045	Esodeviation	3	ALG9 CL E G H	79796	15672	OMIM:608776	Congenital disorder of glycosylation, type Il			93
HP:0000496	HP:0032012	Heterotropia	3	ALG9 CL E G H	79796	15672	OMIM:608776	Congenital disorder of glycosylation, type Il			93
HP:0000496	HP:0000666	Horizontal nystagmus	3	ALX4 CL E G H	60529	450	OMIM:613451	Frontonasal dysplasia 2			132
HP:0000496	HP:0001583	Rotary nystagmus	3	ALX4 CL E G H	60529	450	OMIM:613451	Frontonasal dysplasia 2			132
HP:0000496	HP:0010544	Vertical nystagmus	3	ALX4 CL E G H	60529	450	OMIM:613451	Frontonasal dysplasia 2			132
HP:0000496	HP:0020045	Esodeviation	3	AMMECR1 CL E G H	9949	467	OMIM:300990	Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis			2
HP:0000496	HP:0032012	Heterotropia	3	AMMECR1 CL E G H	9949	467	OMIM:300990	Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis			2
HP:0000496	HP:0000666	Horizontal nystagmus	3	ANO10 CL E G H	55129	25519	ORPHA:284289	Adult-onset autosomal recessive cerebellar ataxia	HP:0040283 - Occasional		64
HP:0000496	HP:0010544	Vertical nystagmus	3	ANO10 CL E G H	55129	25519	ORPHA:284289	Adult-onset autosomal recessive cerebellar ataxia			64
HP:0000496	HP:0020045	Esodeviation	3	AP1G1 CL E G H	164	555	OMIM:619467	USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL DOMINANT; USRISD
HP:0000496	HP:0032012	Heterotropia	3	AP1G1 CL E G H	164	555	OMIM:619467	USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL DOMINANT; USRISD
HP:0000496	HP:0000666	Horizontal nystagmus	3	AP3B1 CL E G H	8546	566	OMIM:608233	Hermansky-Pudlak syndrome 2			83
HP:0000496	HP:0020045	Esodeviation	3	APC CL E G H	324	583	ORPHA:99818	Turcot syndrome with polyposis			3179
HP:0000496	HP:0032012	Heterotropia	3	APC CL E G H	324	583	ORPHA:99818	Turcot syndrome with polyposis			3179
HP:0000496	HP:0000544	External ophthalmoplegia	3	APTX CL E G H	54840	15984	OMIM:208920	Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia			61
HP:0000496	HP:0000640	Gaze-evoked nystagmus	3	APTX CL E G H	54840	15984	OMIM:208920	Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia			61
HP:0000496	HP:0020045	Esodeviation	3	ARHGAP31 CL E G H	57514	29216	OMIM:100300	Adams-Oliver syndrome 1			147
HP:0000496	HP:0032012	Heterotropia	3	ARHGAP31 CL E G H	57514	29216	OMIM:100300	Adams-Oliver syndrome 1			147
HP:0000496	HP:0000666	Horizontal nystagmus	3	ARHGEF2 CL E G H	9181	682	OMIM:617523	Neurodevelopmental disorder with midbrain and hindbrain malformations			1
HP:0000496	HP:0006934	Congenital nystagmus	3	ARHGEF2 CL E G H	9181	682	OMIM:617523	Neurodevelopmental disorder with midbrain and hindbrain malformations			1
HP:0000496	HP:0012043	Pendular nystagmus	3	ARHGEF2 CL E G H	9181	682	OMIM:617523	Neurodevelopmental disorder with midbrain and hindbrain malformations			1
HP:0000496	HP:0020045	Esodeviation	3	ARPC4 CL E G H	10093	707	OMIM:620141
HP:0000496	HP:0020049	Exodeviation	3	ARPC4 CL E G H	10093	707	OMIM:620141
HP:0000496	HP:0032012	Heterotropia	3	ARPC4 CL E G H	10093	707	OMIM:620141
HP:0000496	HP:0025068	Incomitant strabismus	3	ARX CL E G H	170302	18060	OMIM:300215	Lissencephaly, X-linked, 2			166
HP:0000496	HP:0000666	Horizontal nystagmus	3	ASH1L CL E G H	55870	19088	OMIM:617796	Mental retardation, autosomal dominant 52			1
HP:0000496	HP:0020045	Esodeviation	3	ATAD3A CL E G H	55210	25567	OMIM:617183	Harel-Yoon syndrome			5
HP:0000496	HP:0032012	Heterotropia	3	ATAD3A CL E G H	55210	25567	OMIM:617183	Harel-Yoon syndrome			5
HP:0000496	HP:0020045	Esodeviation	3	ATAD3A CL E G H	55210	25567	ORPHA:496790	Ocular anomalies-axonal neuropathy-developmental delay syndrome			5
HP:0000496	HP:0032012	Heterotropia	3	ATAD3A CL E G H	55210	25567	ORPHA:496790	Ocular anomalies-axonal neuropathy-developmental delay syndrome			5
HP:0000496	HP:0012043	Pendular nystagmus	3	ATF6 CL E G H	22926	791	ORPHA:49382	Achromatopsia	HP:0040281 - Very frequent		10
HP:0000496	HP:0000666	Horizontal nystagmus	3	ATG5 CL E G H	9474	589	OMIM:617584	Spinocerebellar ataxia, autosomal recessive 25			1
HP:0000496	HP:0000544	External ophthalmoplegia	3	ATG7 CL E G H	10533	16935	OMIM:619422	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 31; SCAR31			1
HP:0000496	HP:0020045	Esodeviation	3	ATOH7 CL E G H	220202	13907	OMIM:221900	Persistent hyperplastic primary vitreous, autosomal recessive			4
HP:0000496	HP:0012043	Pendular nystagmus	3	ATOH7 CL E G H	220202	13907	OMIM:221900	Persistent hyperplastic primary vitreous, autosomal recessive	.		4
HP:0000496	HP:0032012	Heterotropia	3	ATOH7 CL E G H	220202	13907	OMIM:221900	Persistent hyperplastic primary vitreous, autosomal recessive			4
HP:0000496	HP:0000511	Vertical supranuclear gaze palsy	3	ATP13A2 CL E G H	23400	30213	ORPHA:314632	ATP13A2-related juvenile neuronal ceroid lipofuscinosis			100
HP:0000496	HP:0000666	Horizontal nystagmus	3	ATP13A2 CL E G H	23400	30213	ORPHA:513436	Autosomal recessive spastic paraplegia type 78	HP:0040282 - Frequent		100
HP:0000496	HP:0000511	Vertical supranuclear gaze palsy	3	ATP13A2 CL E G H	23400	30213	ORPHA:306674	Kufor-Rakeb syndrome	HP:0040283 - Occasional		100
HP:0000496	HP:0020049	Exodeviation	3	ATP13A2 CL E G H	23400	30213	OMIM:617225	SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE; SPG78			100
HP:0000496	HP:0020045	Esodeviation	3	ATP1A2 CL E G H	477	800	ORPHA:2131	Alternating hemiplegia of childhood			239
HP:0000496	HP:0020049	Exodeviation	3	ATP1A2 CL E G H	477	800	ORPHA:2131	Alternating hemiplegia of childhood			239
HP:0000496	HP:0031931	Ocular flutter	3	ATP1A2 CL E G H	477	800	ORPHA:2131	Alternating hemiplegia of childhood	HP:0040283 - Occasional		239
HP:0000496	HP:0032012	Heterotropia	3	ATP1A2 CL E G H	477	800	ORPHA:2131	Alternating hemiplegia of childhood			239
HP:0000496	HP:0000640	Gaze-evoked nystagmus	3	ATP1A2 CL E G H	477	800	ORPHA:569	Familial or sporadic hemiplegic migraine			239
HP:0000496	HP:0000666	Horizontal nystagmus	3	ATP1A2 CL E G H	477	800	ORPHA:569	Familial or sporadic hemiplegic migraine			239
HP:0000496	HP:0010544	Vertical nystagmus	3	ATP1A2 CL E G H	477	800	ORPHA:569	Familial or sporadic hemiplegic migraine	HP:0040283 - Occasional		239
HP:0000496	HP:0012043	Pendular nystagmus	3	ATP1A2 CL E G H	477	800	ORPHA:569	Familial or sporadic hemiplegic migraine			239
HP:0000496	HP:0020045	Esodeviation	3	ATP1A3 CL E G H	478	801	ORPHA:2131	Alternating hemiplegia of childhood			150
HP:0000496	HP:0020049	Exodeviation	3	ATP1A3 CL E G H	478	801	ORPHA:2131	Alternating hemiplegia of childhood			150
HP:0000496	HP:0031931	Ocular flutter	3	ATP1A3 CL E G H	478	801	ORPHA:2131	Alternating hemiplegia of childhood	HP:0040283 - Occasional		150
HP:0000496	HP:0032012	Heterotropia	3	ATP1A3 CL E G H	478	801	ORPHA:2131	Alternating hemiplegia of childhood			150
HP:0000496	HP:0020049	Exodeviation	3	ATP1A3 CL E G H	478	801	OMIM:619606	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 99; DEE99			150
HP:0000496	HP:0000666	Horizontal nystagmus	3	ATP6 CL E G H	4508	7414	ORPHA:225154	Familial infantile bilateral striatal necrosis
HP:0000496	HP:0006934	Congenital nystagmus	3	ATP6 CL E G H	4508	7414	ORPHA:225154	Familial infantile bilateral striatal necrosis
HP:0000496	HP:0012043	Pendular nystagmus	3	ATP6 CL E G H	4508	7414	ORPHA:225154	Familial infantile bilateral striatal necrosis
HP:0000496	HP:0006934	Congenital nystagmus	3	ATP6V1B2 CL E G H	526	854	ORPHA:79500	DOORS syndrome	HP:0040284 - Very rare		5
HP:0000496	HP:0000544	External ophthalmoplegia	3	ATP8 CL E G H	4509	7415	ORPHA:480	Kearns-Sayre syndrome
HP:0000496	HP:0020049	Exodeviation	3	ATRX CL E G H	546	886	OMIM:309580	Mental retardation-hypotonic facies syndrome, X-linked, 1			169
HP:0000496	HP:0032012	Heterotropia	3	ATRX CL E G H	546	886	OMIM:309580	Mental retardation-hypotonic facies syndrome, X-linked, 1			169
HP:0000496	HP:0000623	Supranuclear ophthalmoplegia	3	ATXN1 CL E G H	6310	10548	OMIM:164400	Spinocerebellar ataxia 1	.		19
HP:0000496	HP:0000640	Gaze-evoked nystagmus	3	ATXN1 CL E G H	6310	10548	OMIM:164400	Spinocerebellar ataxia 1	.		19
HP:0000496	HP:0001151	Impaired horizontal smooth pursuit	3	ATXN1 CL E G H	6310	10548	OMIM:164400	Spinocerebellar ataxia 1	.		19
HP:0000496	HP:0000511	Vertical supranuclear gaze palsy	3	ATXN1 CL E G H	6310	10548	ORPHA:98755	Spinocerebellar ataxia type 1			19
HP:0000496	HP:0000640	Gaze-evoked nystagmus	3	ATXN10 CL E G H	25814	10549	ORPHA:98761	Spinocerebellar ataxia type 10	HP:0040282 - Frequent		9
HP:0000496	HP:0000640	Gaze-evoked nystagmus	3	ATXN2 CL E G H	6311	10555	OMIM:183090	Spinocerebellar ataxia 2	.		11
HP:0000496	HP:0001151	Impaired horizontal smooth pursuit	3	ATXN2 CL E G H	6311	10555	OMIM:183090	Spinocerebellar ataxia 2	.		11
HP:0000496	HP:0000623	Supranuclear ophthalmoplegia	3	ATXN2 CL E G H	6311	10555	ORPHA:98756	Spinocerebellar ataxia type 2	HP:0040282 - Frequent		11
HP:0000496	HP:0000544	External ophthalmoplegia	3	ATXN3 CL E G H	4287	7106	OMIM:109150	Machado-Joseph disease			14
HP:0000496	HP:0000623	Supranuclear ophthalmoplegia	3	ATXN3 CL E G H	4287	7106	OMIM:109150	Machado-Joseph disease	.		14
HP:0000496	HP:0000640	Gaze-evoked nystagmus	3	ATXN3 CL E G H	4287	7106	OMIM:109150	Machado-Joseph disease			14
HP:0000496	HP:0001151	Impaired horizontal smooth pursuit	3	ATXN3 CL E G H	4287	7106	OMIM:109150	Machado-Joseph disease	.		14
HP:0000496	HP:0000544	External ophthalmoplegia	3	ATXN3 CL E G H	4287	7106	ORPHA:276238	Machado-Joseph disease type 1			14
HP:0000496	HP:0000623	Supranuclear ophthalmoplegia	3	ATXN3 CL E G H	4287	7106	ORPHA:276238	Machado-Joseph disease type 1	HP:0040282 - Frequent		14
HP:0000496	HP:0000640	Gaze-evoked nystagmus	3	ATXN3 CL E G H	4287	7106	ORPHA:276238	Machado-Joseph disease type 1	HP:0040282 - Frequent		14
HP:0000496	HP:0000544	External ophthalmoplegia	3	ATXN3 CL E G H	4287	7106	ORPHA:276241	Machado-Joseph disease type 2			14
HP:0000496	HP:0000623	Supranuclear ophthalmoplegia	3	ATXN3 CL E G H	4287	7106	ORPHA:276241	Machado-Joseph disease type 2	HP:0040282 - Frequent		14
HP:0000496	HP:0000640	Gaze-evoked nystagmus	3	ATXN3 CL E G H	4287	7106	ORPHA:276241	Machado-Joseph disease type 2	HP:0040282 - Frequent		14
HP:0000496	HP:0000544	External ophthalmoplegia	3	ATXN3 CL E G H	4287	7106	ORPHA:276244	Machado-Joseph disease type 3			14
HP:0000496	HP:0000623	Supranuclear ophthalmoplegia	3	ATXN3 CL E G H	4287	7106	ORPHA:276244	Machado-Joseph disease type 3	HP:0040282 - Frequent		14
HP:0000496	HP:0000640	Gaze-evoked nystagmus	3	ATXN3 CL E G H	4287	7106	ORPHA:276244	Machado-Joseph disease type 3	HP:0040282 - Frequent		14
HP:0000496	HP:0000623	Supranuclear ophthalmoplegia	3	ATXN7 CL E G H	6314	10560	OMIM:164500	Spinocerebellar ataxia 7 opca III opca with retinal degeneration opca with macular degeneration and external ophthalmoplegia autosomal dominant cerebellar ataxia, type II adca, type II	.		8
HP:0000496	HP:0020045	Esodeviation	3	B3GAT3 CL E G H	26229	923	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects			5
HP:0000496	HP:0032012	Heterotropia	3	B3GAT3 CL E G H	26229	923	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects			5
HP:0000496	HP:0001361	Nystagmus-induced head nodding	3	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0000496	HP:0001361	Nystagmus-induced head nodding	3	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0000496	HP:0020049	Exodeviation	3	BCOR CL E G H	54880	20893	OMIM:300166	Microphthalmia, syndromic 2			101
HP:0000496	HP:0032012	Heterotropia	3	BCOR CL E G H	54880	20893	OMIM:300166	Microphthalmia, syndromic 2			101
HP:0000496	HP:0020049	Exodeviation	3	BCORL1 CL E G H	63035	25657	OMIM:301029	Shukla-Vernon syndrome			17
HP:0000496	HP:0032012	Heterotropia	3	BCORL1 CL E G H	63035	25657	OMIM:301029	Shukla-Vernon syndrome			17
HP:0000496	HP:0000640	Gaze-evoked nystagmus	3	BEAN1 CL E G H	146227	24160	OMIM:117210	Spinocerebellar ataxia 31			1
HP:0000496	HP:0000666	Horizontal nystagmus	3	BEAN1 CL E G H	146227	24160	OMIM:117210	Spinocerebellar ataxia 31			1
HP:0000496	HP:0000544	External ophthalmoplegia	3	BIN1 CL E G H	274	1052	ORPHA:169189	Autosomal dominant centronuclear myopathy	HP:0040283 - Occasional		99
HP:0000496	HP:0000666	Horizontal nystagmus	3	BLOC1S3 CL E G H	388552	20914	OMIM:614077	Hermansky-Pudlak syndrome 8	.		42
HP:0000496	HP:0020045	Esodeviation	3	BLOC1S3 CL E G H	388552	20914	OMIM:614077	Hermansky-Pudlak syndrome 8			42
HP:0000496	HP:0020049	Exodeviation	3	BLOC1S3 CL E G H	388552	20914	OMIM:614077	Hermansky-Pudlak syndrome 8			42
HP:0000496	HP:0032012	Heterotropia	3	BLOC1S3 CL E G H	388552	20914	OMIM:614077	Hermansky-Pudlak syndrome 8			42
HP:0000496	HP:0020045	Esodeviation	3	BPTF CL E G H	2186	3581	OMIM:617755	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES; NEDDFL			2
HP:0000496	HP:0001361	Nystagmus-induced head nodding	3	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0000496	HP:0000544	External ophthalmoplegia	3	C1QBP CL E G H	708	1243	OMIM:617713	Combined oxidative phosphorylation deficiency 33
HP:0000496	HP:0020045	Esodeviation	3	CACNA1A CL E G H	773	1388	ORPHA:2131	Alternating hemiplegia of childhood			449
HP:0000496	HP:0020049	Exodeviation	3	CACNA1A CL E G H	773	1388	ORPHA:2131	Alternating hemiplegia of childhood			449
HP:0000496	HP:0031931	Ocular flutter	3	CACNA1A CL E G H	773	1388	ORPHA:2131	Alternating hemiplegia of childhood	HP:0040283 - Occasional		449
HP:0000496	HP:0032012	Heterotropia	3	CACNA1A CL E G H	773	1388	ORPHA:2131	Alternating hemiplegia of childhood			449
HP:0000496	HP:0020045	Esodeviation	3	CACNA1A CL E G H	773	1388	OMIM:617106	Epileptic encephalopathy, early infantile, 42			449
HP:0000496	HP:0032012	Heterotropia	3	CACNA1A CL E G H	773	1388	OMIM:617106	Epileptic encephalopathy, early infantile, 42			449
HP:0000496	HP:0000640	Gaze-evoked nystagmus	3	CACNA1A CL E G H	773	1388	OMIM:108500	Episodic ataxia, type 2	.		449
HP:0000496	HP:0010544	Vertical nystagmus	3	CACNA1A CL E G H	773	1388	OMIM:108500	Episodic ataxia, type 2			449
HP:0000496	HP:0000640	Gaze-evoked nystagmus	3	CACNA1A CL E G H	773	1388	ORPHA:569	Familial or sporadic hemiplegic migraine			449
HP:0000496	HP:0000666	Horizontal nystagmus	3	CACNA1A CL E G H	773	1388	ORPHA:569	Familial or sporadic hemiplegic migraine			449
HP:0000496	HP:0010544	Vertical nystagmus	3	CACNA1A CL E G H	773	1388	ORPHA:569	Familial or sporadic hemiplegic migraine	HP:0040283 - Occasional		449
HP:0000496	HP:0012043	Pendular nystagmus	3	CACNA1A CL E G H	773	1388	ORPHA:569	Familial or sporadic hemiplegic migraine			449
HP:0000496	HP:0000640	Gaze-evoked nystagmus	3	CACNA1A CL E G H	773	1388	OMIM:183086	Spinocerebellar ataxia 6	.		449
HP:0000496	HP:0000640	Gaze-evoked nystagmus	3	CACNA1A CL E G H	773	1388	ORPHA:98758	Spinocerebellar ataxia type 6			449
HP:0000496	HP:0000666	Horizontal nystagmus	3	CACNA1A CL E G H	773	1388	ORPHA:98758	Spinocerebellar ataxia type 6			449
HP:0000496	HP:0010544	Vertical nystagmus	3	CACNA1A CL E G H	773	1388	ORPHA:98758	Spinocerebellar ataxia type 6	HP:0040282 - Frequent		449
HP:0000496	HP:0020049	Exodeviation	3	CACNA1F CL E G H	778	1393	OMIM:300071	Night blindness, congenital stationary, type 2A			58
HP:0000496	HP:0032012	Heterotropia	3	CACNA1F CL E G H	778	1393	OMIM:300071	Night blindness, congenital stationary, type 2A			58
HP:0000496	HP:0000666	Horizontal nystagmus	3	CACNA1G CL E G H	8913	1394	OMIM:616795	Spinocerebellar ataxia 42			32
HP:0000496	HP:0000640	Gaze-evoked nystagmus	3	CACNA1G CL E G H	8913	1394	ORPHA:458803	Spinocerebellar ataxia type 42			32
HP:0000496	HP:0000666	Horizontal nystagmus	3	CACNA1G CL E G H	8913	1394	ORPHA:458803	Spinocerebellar ataxia type 42			32
HP:0000496	HP:0000640	Gaze-evoked nystagmus	3	CACNB4 CL E G H	785	1404	ORPHA:211067	Episodic ataxia type 5	HP:0040282 - Frequent		146
HP:0000496	HP:0000640	Gaze-evoked nystagmus	3	CACNB4 CL E G H	785	1404	OMIM:613855	Episodic ataxia, type 5	.		146
HP:0000496	HP:0020045	Esodeviation	3	CAMK2B CL E G H	816	1461	OMIM:617799	Mental retardation, autosomal dominant 54
HP:0000496	HP:0032012	Heterotropia	3	CAMK2B CL E G H	816	1461	OMIM:617799	Mental retardation, autosomal dominant 54
HP:0000496	HP:0012043	Pendular nystagmus	3	CARS1 CL E G H	833	1493	OMIM:618891	MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME; MDBH
HP:0000496	HP:0020045	Esodeviation	3	CARS1 CL E G H	833	1493	ORPHA:33364	Trichothiodystrophy
HP:0000496	HP:0032012	Heterotropia	3	CARS1 CL E G H	833	1493	ORPHA:33364	Trichothiodystrophy
HP:0000496	HP:0000511	Vertical supranuclear gaze palsy	3	CCDC88C CL E G H	440193	19967	ORPHA:423275	Spinocerebellar ataxia type 40	HP:0040282 - Frequent		54
HP:0000496	HP:0025068	Incomitant strabismus	3	CCNQ CL E G H	92002	28434	OMIM:300707	Toe syndactyly, telecanthus, and anogenital and renal malformations			7
HP:0000496	HP:0020049	Exodeviation	3	CDC42 CL E G H	998	1736	ORPHA:487796	Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome			6
HP:0000496	HP:0032012	Heterotropia	3	CDC42 CL E G H	998	1736	ORPHA:487796	Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome			6
HP:0000496	HP:0020049	Exodeviation	3	CDC42 CL E G H	998	1736	OMIM:616737	Takenouchi-Kosaki syndrome			6
HP:0000496	HP:0032012	Heterotropia	3	CDC42 CL E G H	998	1736	OMIM:616737	Takenouchi-Kosaki syndrome			6
HP:0000496	HP:0020045	Esodeviation	3	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0000496	HP:0032012	Heterotropia	3	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0000496	HP:0020049	Exodeviation	3	CDH11 CL E G H	1009	1750	OMIM:211380	Elsahy-Waters syndrome	.		2
HP:0000496	HP:0007942	Internal ophthalmoplegia	3	CDH23 CL E G H	64072	13733	ORPHA:2965	Prolactinoma	HP:0040283 - Occasional		636
HP:0000496	HP:0007942	Internal ophthalmoplegia	3	CDH23 CL E G H	64072	13733	ORPHA:91347	TSH-secreting pituitary adenoma	HP:0040283 - Occasional		636
HP:0000496	HP:0020045	Esodeviation	3	CHAT CL E G H	1103	1912	ORPHA:98914	Presynaptic congenital myasthenic syndromes			65
HP:0000496	HP:0032012	Heterotropia	3	CHAT CL E G H	1103	1912	ORPHA:98914	Presynaptic congenital myasthenic syndromes			65
HP:0000496	HP:0020045	Esodeviation	3	CHMP1A CL E G H	5119	8740	OMIM:614961	Pontocerebellar hypoplasia, type 8			19
HP:0000496	HP:0032012	Heterotropia	3	CHMP1A CL E G H	5119	8740	OMIM:614961	Pontocerebellar hypoplasia, type 8			19
HP:0000496	HP:0025068	Incomitant strabismus	3	CHN1 CL E G H	1123	1943	OMIM:604356	DUANE RETRACTION SYNDROME 2; DURS2			35
HP:0000496	HP:0020045	Esodeviation	3	CHST3 CL E G H	9469	1971	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects			165
HP:0000496	HP:0032012	Heterotropia	3	CHST3 CL E G H	9469	1971	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects			165
HP:0000496	HP:0020045	Esodeviation	3	CLCN3 CL E G H	1182	2021	OMIM:619512	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA			2
HP:0000496	HP:0032012	Heterotropia	3	CLCN3 CL E G H	1182	2021	OMIM:619512	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA			2
HP:0000496	HP:0020045	Esodeviation	3	CLCN6 CL E G H	1185	2024	OMIM:619173	NEURODEGENERATION, CHILDHOOD-ONSET, WITH HYPOTONIA, RESPIRATORY INSUFFICIENCY, AND BRAIN IMAGING ABNORMALITIES; CONRIBA
HP:0000496	HP:0032012	Heterotropia	3	CLCN6 CL E G H	1185	2024	OMIM:619173	NEURODEGENERATION, CHILDHOOD-ONSET, WITH HYPOTONIA, RESPIRATORY INSUFFICIENCY, AND BRAIN IMAGING ABNORMALITIES; CONRIBA
HP:0000496	HP:0010543	Opsoclonus	3	CLCN7 CL E G H	1186	2025	ORPHA:667	Autosomal recessive malignant osteopetrosis	HP:0040281 - Very frequent		102
HP:0000496	HP:0001361	Nystagmus-induced head nodding	3	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0000496	HP:0001583	Rotary nystagmus	3	CLN3 CL E G H	1201	2074	ORPHA:228346	CLN3 disease			216
HP:0000496	HP:0020045	Esodeviation	3	CLP1 CL E G H	10978	16999	OMIM:615803	Pontocerebellar hypoplasia, type 10			7
HP:0000496	HP:0032012	Heterotropia	3	CLP1 CL E G H	10978	16999	OMIM:615803	Pontocerebellar hypoplasia, type 10			7
HP:0000496	HP:0012043	Pendular nystagmus	3	CLTCL1 CL E G H	8218	2093	ORPHA:453510	Congenital insensitivity to pain with severe intellectual disability			6
HP:0000496	HP:0012043	Pendular nystagmus	3	CNGA3 CL E G H	1261	2150	ORPHA:49382	Achromatopsia	HP:0040281 - Very frequent		82
HP:0000496	HP:0012043	Pendular nystagmus	3	CNGA3 CL E G H	1261	2150	OMIM:216900	Achromatopsia 2			82
HP:0000496	HP:0012043	Pendular nystagmus	3	CNGB3 CL E G H	54714	2153	ORPHA:49382	Achromatopsia	HP:0040281 - Very frequent		194
HP:0000496	HP:0000666	Horizontal nystagmus	3	CNGB3 CL E G H	54714	2153	OMIM:262300	Achromatopsia 3			194
HP:0000496	HP:0006934	Congenital nystagmus	3	CNGB3 CL E G H	54714	2153	OMIM:262300	Achromatopsia 3			194
HP:0000496	HP:0012043	Pendular nystagmus	3	CNGB3 CL E G H	54714	2153	OMIM:262300	Achromatopsia 3			194
HP:0000496	HP:0012043	Pendular nystagmus	3	CNNM4 CL E G H	26504	105	OMIM:217080	Jalili syndrome			61
HP:0000496	HP:0020045	Esodeviation	3	COG8 CL E G H	84342	18623	ORPHA:95428	COG8-CDG			39
HP:0000496	HP:0032012	Heterotropia	3	COG8 CL E G H	84342	18623	ORPHA:95428	COG8-CDG			39
HP:0000496	HP:0020045	Esodeviation	3	COG8 CL E G H	84342	18623	OMIM:611182	Congenital disorder of glycosylation, type IIh			39
HP:0000496	HP:0032012	Heterotropia	3	COG8 CL E G H	84342	18623	OMIM:611182	Congenital disorder of glycosylation, type IIh			39
HP:0000496	HP:0020045	Esodeviation	3	COL11A1 CL E G H	1301	2186	OMIM:154780	Marshall syndrome			215
HP:0000496	HP:0032012	Heterotropia	3	COL11A1 CL E G H	1301	2186	OMIM:154780	Marshall syndrome			215
HP:0000496	HP:0020045	Esodeviation	3	COL12A1 CL E G H	1303	2188	ORPHA:75840	Congenital muscular dystrophy, Ullrich type			65
HP:0000496	HP:0032012	Heterotropia	3	COL12A1 CL E G H	1303	2188	ORPHA:75840	Congenital muscular dystrophy, Ullrich type			65
HP:0000496	HP:0020045	Esodeviation	3	COL13A1 CL E G H	1305	2190	ORPHA:98914	Presynaptic congenital myasthenic syndromes			6
HP:0000496	HP:0032012	Heterotropia	3	COL13A1 CL E G H	1305	2190	ORPHA:98914	Presynaptic congenital myasthenic syndromes			6
HP:0000496	HP:0000640	Gaze-evoked nystagmus	3	COL18A1 CL E G H	80781	2195	OMIM:267750	Knobloch syndrome 1			177
HP:0000496	HP:0000666	Horizontal nystagmus	3	COL18A1 CL E G H	80781	2195	OMIM:267750	Knobloch syndrome 1			177
HP:0000496	HP:0025068	Incomitant strabismus	3	COL25A1 CL E G H	84570	18603	OMIM:616219	Fibrosis of extraocular muscles, congenital, 5			3
HP:0000496	HP:0020049	Exodeviation	3	COL4A1 CL E G H	1282	2202	OMIM:175780	Brain small vessel disease 1 with or without ocular anomalies			193
HP:0000496	HP:0032012	Heterotropia	3	COL4A1 CL E G H	1282	2202	OMIM:175780	Brain small vessel disease 1 with or without ocular anomalies			193
HP:0000496	HP:0020045	Esodeviation	3	COL4A2 CL E G H	1284	2203	OMIM:614483	PORENCEPHALY 2; POREN2			147
HP:0000496	HP:0032012	Heterotropia	3	COL4A2 CL E G H	1284	2203	OMIM:614483	PORENCEPHALY 2; POREN2			147
HP:0000496	HP:0020045	Esodeviation	3	COL6A1 CL E G H	1291	2211	ORPHA:75840	Congenital muscular dystrophy, Ullrich type			442
HP:0000496	HP:0032012	Heterotropia	3	COL6A1 CL E G H	1291	2211	ORPHA:75840	Congenital muscular dystrophy, Ullrich type			442
HP:0000496	HP:0020045	Esodeviation	3	COL6A2 CL E G H	1292	2212	ORPHA:75840	Congenital muscular dystrophy, Ullrich type			478
HP:0000496	HP:0032012	Heterotropia	3	COL6A2 CL E G H	1292	2212	ORPHA:75840	Congenital muscular dystrophy, Ullrich type			478
HP:0000496	HP:0020045	Esodeviation	3	COL6A3 CL E G H	1293	2213	ORPHA:75840	Congenital muscular dystrophy, Ullrich type			702
HP:0000496	HP:0032012	Heterotropia	3	COL6A3 CL E G H	1293	2213	ORPHA:75840	Congenital muscular dystrophy, Ullrich type			702
HP:0000496	HP:0020045	Esodeviation	3	COL8A2 CL E G H	1296	2216	ORPHA:98973	Posterior polymorphous corneal dystrophy			3
HP:0000496	HP:0032012	Heterotropia	3	COL8A2 CL E G H	1296	2216	ORPHA:98973	Posterior polymorphous corneal dystrophy			3
HP:0000496	HP:0000640	Gaze-evoked nystagmus	3	COQ2 CL E G H	27235	25223	OMIM:146500	Multiple system atrophy 1, susceptibility to	.		54
HP:0000496	HP:0000640	Gaze-evoked nystagmus	3	COQ2 CL E G H	27235	25223	ORPHA:227510	Multiple system atrophy, cerebellar type	HP:0040282 - Frequent		54
HP:0000496	HP:0010544	Vertical nystagmus	3	COQ2 CL E G H	27235	25223	ORPHA:227510	Multiple system atrophy, cerebellar type			54
HP:0000496	HP:0000640	Gaze-evoked nystagmus	3	COQ2 CL E G H	27235	25223	ORPHA:98933	Multiple system atrophy, parkinsonian type	HP:0040283 - Occasional		54
HP:0000496	HP:0000666	Horizontal nystagmus	3	COQ5 CL E G H	84274	28722	OMIM:619028	COENZYME Q10 DEFICIENCY, PRIMARY, 9; COQ10D9
HP:0000496	HP:0000544	External ophthalmoplegia	3	COX1 CL E G H	4512	7419	ORPHA:550	MELAS
HP:0000496	HP:0000544	External ophthalmoplegia	3	COX2 CL E G H	4513	7421	ORPHA:550	MELAS
HP:0000496	HP:0000544	External ophthalmoplegia	3	COX3 CL E G H	4514	7422	ORPHA:550	MELAS
HP:0000496	HP:0020045	Esodeviation	3	CPLANE1 CL E G H	65250	25801	ORPHA:2754	Orofaciodigital syndrome type 6
HP:0000496	HP:0032012	Heterotropia	3	CPLANE1 CL E G H	65250	25801	ORPHA:2754	Orofaciodigital syndrome type 6
HP:0000496	HP:0020045	Esodeviation	3	CPLANE1 CL E G H	65250	25801	OMIM:277170	Orofaciodigital syndrome VI
HP:0000496	HP:0032012	Heterotropia	3	CPLANE1 CL E G H	65250	25801	OMIM:277170	Orofaciodigital syndrome VI
HP:0000496	HP:0020045	Esodeviation	3	CRB1 CL E G H	23418	2343	OMIM:172870	Pigmented paravenous chorioretinal atrophy			156
HP:0000496	HP:0032012	Heterotropia	3	CRB1 CL E G H	23418	2343	OMIM:172870	Pigmented paravenous chorioretinal atrophy			156
HP:0000496	HP:0020049	Exodeviation	3	CRB1 CL E G H	23418	2343	OMIM:600105	Retinitis pigmentosa 12			156
HP:0000496	HP:0032012	Heterotropia	3	CRB1 CL E G H	23418	2343	OMIM:600105	Retinitis pigmentosa 12			156
HP:0000496	HP:0020049	Exodeviation	3	CRIPT CL E G H	9419	14312	OMIM:615789	Short stature with microcephaly and distinctive facies			4
HP:0000496	HP:0032012	Heterotropia	3	CRIPT CL E G H	9419	14312	OMIM:615789	Short stature with microcephaly and distinctive facies			4
HP:0000496	HP:0012043	Pendular nystagmus	3	CRX CL E G H	1406	2383	OMIM:613829	Leber congenital amaurosis 7	.		158
HP:0000496	HP:0025068	Incomitant strabismus	3	CSPP1 CL E G H	79848	26193	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy			57
HP:0000496	HP:0000666	Horizontal nystagmus	3	CWF19L1 CL E G H	55280	25613	ORPHA:453521	Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency	HP:0040282 - Frequent		9
HP:0000496	HP:0020045	Esodeviation	3	CYB5A CL E G H	1528	2570	ORPHA:621	Hereditary methemoglobinemia			2
HP:0000496	HP:0032012	Heterotropia	3	CYB5A CL E G H	1528	2570	ORPHA:621	Hereditary methemoglobinemia			2
HP:0000496	HP:0020045	Esodeviation	3	CYB5R3 CL E G H	1727	2873	ORPHA:621	Hereditary methemoglobinemia			24
HP:0000496	HP:0032012	Heterotropia	3	CYB5R3 CL E G H	1727	2873	ORPHA:621	Hereditary methemoglobinemia			24
HP:0000496	HP:0000666	Horizontal nystagmus	3	DAB1 CL E G H	1600	2661	ORPHA:363710	Spinocerebellar ataxia type 37	HP:0040282 - Frequent		4
HP:0000496	HP:0007817	Horizontal supranuclear gaze palsy	3	DCC CL E G H	1630	2701	OMIM:617542	GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS, 2; HGPPS2			36
HP:0000496	HP:0007817	Horizontal supranuclear gaze palsy	3	DCC CL E G H	1630	2701	ORPHA:2744	Horizontal gaze palsy with progressive scoliosis	HP:0040281 - Very frequent		36
HP:0000496	HP:0000511	Vertical supranuclear gaze palsy	3	DCTN1 CL E G H	1639	2711	OMIM:168605	Perry syndrome	.		86
HP:0000496	HP:0020045	Esodeviation	3	DDB1 CL E G H	1642	2717	OMIM:619426	WHITE-KERNOHAN SYNDROME; WHIKERS
HP:0000496	HP:0020045	Esodeviation	3	DDOST CL E G H	1650	2728	ORPHA:300536	DDOST-CDG			62
HP:0000496	HP:0032012	Heterotropia	3	DDOST CL E G H	1650	2728	ORPHA:300536	DDOST-CDG			62
HP:0000496	HP:0020045	Esodeviation	3	DDX59 CL E G H	83479	25360	OMIM:174300	Orofaciodigital syndrome V			2
HP:0000496	HP:0000544	External ophthalmoplegia	3	DGUOK CL E G H	1716	2858	ORPHA:329314	Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency			57
HP:0000496	HP:0000544	External ophthalmoplegia	3	DGUOK CL E G H	1716	2858	OMIM:617070	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4			57
HP:0000496	HP:0000511	Vertical supranuclear gaze palsy	3	DLAT CL E G H	1737	2896	ORPHA:79244	Pyruvate dehydrogenase E2 deficiency			82
HP:0000496	HP:0020045	Esodeviation	3	DLAT CL E G H	1737	2896	OMIM:245348	Pyruvate dehydrogenase E2 deficiency			82
HP:0000496	HP:0012043	Pendular nystagmus	3	DLAT CL E G H	1737	2896	OMIM:245348	Pyruvate dehydrogenase E2 deficiency			82
HP:0000496	HP:0020045	Esodeviation	3	DLK1 CL E G H	8788	2907	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion			1
HP:0000496	HP:0032012	Heterotropia	3	DLK1 CL E G H	8788	2907	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion			1
HP:0000496	HP:0000544	External ophthalmoplegia	3	DNA2 CL E G H	1763	2939	ORPHA:352470	DNA2-related mitochondrial DNA deletion syndrome			41
HP:0000496	HP:0000544	External ophthalmoplegia	3	DNA2 CL E G H	1763	2939	OMIM:615156	Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal dominant, 6	.		41
HP:0000496	HP:0001361	Nystagmus-induced head nodding	3	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0000496	HP:0025068	Incomitant strabismus	3	DNM1L CL E G H	10059	2973	ORPHA:98673	Autosomal dominant optic atrophy, classic form			94
HP:0000496	HP:0000666	Horizontal nystagmus	3	DNM1L CL E G H	10059	2973	OMIM:614388	Encephalopathy due to defective mitochondrial and peroxisomal fission 1	.		94
HP:0000496	HP:0000544	External ophthalmoplegia	3	DNM2 CL E G H	1785	2974	ORPHA:169189	Autosomal dominant centronuclear myopathy	HP:0040283 - Occasional		167
HP:0000496	HP:0000544	External ophthalmoplegia	3	DNM2 CL E G H	1785	2974	OMIM:160150	Myopathy, centronuclear, autosomal dominant			167
HP:0000496	HP:0020049	Exodeviation	3	DNMBP CL E G H	23268	30373	OMIM:618415	Cataract 48
HP:0000496	HP:0012043	Pendular nystagmus	3	DNMBP CL E G H	23268	30373	OMIM:618415	Cataract 48	.
HP:0000496	HP:0032012	Heterotropia	3	DNMBP CL E G H	23268	30373	OMIM:618415	Cataract 48
HP:0000496	HP:0020049	Exodeviation	3	DPAGT1 CL E G H	1798	2995	OMIM:608093	Congenital disorder of glycosylation, type Ij			38
HP:0000496	HP:0032012	Heterotropia	3	DPAGT1 CL E G H	1798	2995	OMIM:608093	Congenital disorder of glycosylation, type Ij			38
HP:0000496	HP:0020049	Exodeviation	3	DPAGT1 CL E G H	1798	2995	ORPHA:86309	DPAGT1-CDG			38
HP:0000496	HP:0032012	Heterotropia	3	DPAGT1 CL E G H	1798	2995	ORPHA:86309	DPAGT1-CDG			38
HP:0000496	HP:0020045	Esodeviation	3	DPM1 CL E G H	8813	3005	ORPHA:79322	DPM1-CDG			27
HP:0000496	HP:0032012	Heterotropia	3	DPM1 CL E G H	8813	3005	ORPHA:79322	DPM1-CDG			27
HP:0000496	HP:0007179	Absent smooth pursuit	3	DPM2 CL E G H	8818	3006	ORPHA:329178	Congenital muscular dystrophy with intellectual disability and severe epilepsy	HP:0040282 - Frequent		26
HP:0000496	HP:0000666	Horizontal nystagmus	3	DPP6 CL E G H	1804	3010	ORPHA:2514	Autosomal dominant primary microcephaly	HP:0040283 - Occasional		18
HP:0000496	HP:0020045	Esodeviation	3	DPP6 CL E G H	1804	3010	ORPHA:2514	Autosomal dominant primary microcephaly			18
HP:0000496	HP:0032012	Heterotropia	3	DPP6 CL E G H	1804	3010	ORPHA:2514	Autosomal dominant primary microcephaly			18
HP:0000496	HP:0020045	Esodeviation	3	DYRK1A CL E G H	1859	3091	ORPHA:268261	DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion			134
HP:0000496	HP:0032012	Heterotropia	3	DYRK1A CL E G H	1859	3091	ORPHA:268261	DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion			134
HP:0000496	HP:0020049	Exodeviation	3	DYRK1A CL E G H	1859	3091	ORPHA:464311	Intellectual disability syndrome due to a DYRK1A point mutation			134
HP:0000496	HP:0032012	Heterotropia	3	DYRK1A CL E G H	1859	3091	ORPHA:464311	Intellectual disability syndrome due to a DYRK1A point mutation			134
HP:0000496	HP:0010544	Vertical nystagmus	3	ECHS1 CL E G H	1892	3151	OMIM:616277	Mitochondrial short-chain enoyl-coa hydratase 1 deficiency			33
HP:0000496	HP:0001151	Impaired horizontal smooth pursuit	3	EEF2 CL E G H	1938	3214	OMIM:609306	Spinocerebellar ataxia 26	.		4
HP:0000496	HP:0001151	Impaired horizontal smooth pursuit	3	EEF2 CL E G H	1938	3214	ORPHA:101112	Spinocerebellar ataxia type 26	HP:0040281 - Very frequent		4
HP:0000496	HP:0020049	Exodeviation	3	EFNB1 CL E G H	1947	3226	OMIM:304110	Craniofrontonasal syndrome			27
HP:0000496	HP:0032012	Heterotropia	3	EFNB1 CL E G H	1947	3226	OMIM:304110	Craniofrontonasal syndrome			27
HP:0000496	HP:0000511	Vertical supranuclear gaze palsy	3	EIF2AK2 CL E G H	5610	9437	OMIM:619687	DYSTONIA 33; DYT33
HP:0000496	HP:0001361	Nystagmus-induced head nodding	3	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0000496	HP:0001361	Nystagmus-induced head nodding	3	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome	HP:0040282 - Frequent		172
HP:0000496	HP:0001583	Rotary nystagmus	3	ELOVL1 CL E G H	64834	14418	OMIM:618527	Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features
HP:0000496	HP:0020045	Esodeviation	3	EMC1 CL E G H	23065	28957	OMIM:616875	Cerebellar atrophy, visual impairment, and psychomotor retardation			5
HP:0000496	HP:0032012	Heterotropia	3	EMC1 CL E G H	23065	28957	OMIM:616875	Cerebellar atrophy, visual impairment, and psychomotor retardation			5
HP:0000496	HP:0020045	Esodeviation	3	EMC1 CL E G H	23065	28957	ORPHA:480898	Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome			5
HP:0000496	HP:0032012	Heterotropia	3	EMC1 CL E G H	23065	28957	ORPHA:480898	Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome			5
HP:0000496	HP:0020045	Esodeviation	3	ERCC2 CL E G H	2068	3434	ORPHA:33364	Trichothiodystrophy			106
HP:0000496	HP:0032012	Heterotropia	3	ERCC2 CL E G H	2068	3434	ORPHA:33364	Trichothiodystrophy			106
HP:0000496	HP:0020045	Esodeviation	3	ERCC3 CL E G H	2071	3435	ORPHA:33364	Trichothiodystrophy			54
HP:0000496	HP:0032012	Heterotropia	3	ERCC3 CL E G H	2071	3435	ORPHA:33364	Trichothiodystrophy			54
HP:0000496	HP:0000666	Horizontal nystagmus	3	ERLIN2 CL E G H	11160	1356	ORPHA:209951	Autosomal recessive spastic paraplegia type 18	HP:0040283 - Occasional		18
HP:0000496	HP:0001583	Rotary nystagmus	3	ERLIN2 CL E G H	11160	1356	ORPHA:209951	Autosomal recessive spastic paraplegia type 18	HP:0040283 - Occasional		18
HP:0000496	HP:0020049	Exodeviation	3	EXOC8 CL E G H	149371	24659	OMIM:619076	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND BRAIN ATROPHY; NEDMISB			1
HP:0000496	HP:0032012	Heterotropia	3	EXOC8 CL E G H	149371	24659	OMIM:619076	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND BRAIN ATROPHY; NEDMISB			1
HP:0000496	HP:0020045	Esodeviation	3	EXOSC3 CL E G H	51010	17944	ORPHA:2254	Pontocerebellar hypoplasia type 1			38
HP:0000496	HP:0032012	Heterotropia	3	EXOSC3 CL E G H	51010	17944	ORPHA:2254	Pontocerebellar hypoplasia type 1			38
HP:0000496	HP:0000666	Horizontal nystagmus	3	EXOSC5 CL E G H	56915	24662	OMIM:619576	CEREBELLAR ATAXIA, BRAIN ABNORMALITIES, AND CARDIAC CONDUCTION DEFECTS; CABAC
HP:0000496	HP:0020045	Esodeviation	3	EXOSC5 CL E G H	56915	24662	OMIM:619576	CEREBELLAR ATAXIA, BRAIN ABNORMALITIES, AND CARDIAC CONDUCTION DEFECTS; CABAC
HP:0000496	HP:0032012	Heterotropia	3	EXOSC5 CL E G H	56915	24662	OMIM:619576	CEREBELLAR ATAXIA, BRAIN ABNORMALITIES, AND CARDIAC CONDUCTION DEFECTS; CABAC
HP:0000496	HP:0020045	Esodeviation	3	EXOSC8 CL E G H	11340	17035	ORPHA:2254	Pontocerebellar hypoplasia type 1			4
HP:0000496	HP:0032012	Heterotropia	3	EXOSC8 CL E G H	11340	17035	ORPHA:2254	Pontocerebellar hypoplasia type 1			4
HP:0000496	HP:0020045	Esodeviation	3	EXOSC9 CL E G H	5393	9137	ORPHA:2254	Pontocerebellar hypoplasia type 1
HP:0000496	HP:0032012	Heterotropia	3	EXOSC9 CL E G H	5393	9137	ORPHA:2254	Pontocerebellar hypoplasia type 1
HP:0000496	HP:0000640	Gaze-evoked nystagmus	3	EXOSC9 CL E G H	5393	9137	OMIM:618065	Pontocerebellar hypoplasia, type 1D
HP:0000496	HP:0000666	Horizontal nystagmus	3	EXOSC9 CL E G H	5393	9137	OMIM:618065	Pontocerebellar hypoplasia, type 1D
HP:0000496	HP:0020045	Esodeviation	3	EXOSC9 CL E G H	5393	9137	OMIM:618065	Pontocerebellar hypoplasia, type 1D
HP:0000496	HP:0006934	Congenital nystagmus	3	EXOSC9 CL E G H	5393	9137	OMIM:618065	Pontocerebellar hypoplasia, type 1D
HP:0000496	HP:0032012	Heterotropia	3	EXOSC9 CL E G H	5393	9137	OMIM:618065	Pontocerebellar hypoplasia, type 1D
HP:0000496	HP:0000666	Horizontal nystagmus	3	FA2H CL E G H	79152	21197	ORPHA:329308	Fatty acid hydroxylase-associated neurodegeneration	HP:0040282 - Frequent		76
HP:0000496	HP:0000544	External ophthalmoplegia	3	FA2H CL E G H	79152	21197	OMIM:612319	Spastic paraplegia 35, autosomal recessive	HP:0040283 - Occasional		76
HP:0000496	HP:0020045	Esodeviation	3	FAM149B1 CL E G H	317662	29162	ORPHA:2754	Orofaciodigital syndrome type 6
HP:0000496	HP:0032012	Heterotropia	3	FAM149B1 CL E G H	317662	29162	ORPHA:2754	Orofaciodigital syndrome type 6
HP:0000496	HP:0000666	Horizontal nystagmus	3	FAR1 CL E G H	84188	26222	ORPHA:447753	Autosomal dominant spastic paraplegia type 9A	HP:0040283 - Occasional		7
HP:0000496	HP:0020045	Esodeviation	3	FBN1 CL E G H	2200	3603	OMIM:154700	Marfan syndrome			1361
HP:0000496	HP:0020049	Exodeviation	3	FBN1 CL E G H	2200	3603	OMIM:154700	Marfan syndrome			1361
HP:0000496	HP:0025587	Hyperdeviation	3	FBN1 CL E G H	2200	3603	OMIM:154700	Marfan syndrome			1361
HP:0000496	HP:0032012	Heterotropia	3	FBN1 CL E G H	2200	3603	OMIM:154700	Marfan syndrome			1361
HP:0000496	HP:0020045	Esodeviation	3	FBXO28 CL E G H	23219	29046	OMIM:619777	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100
HP:0000496	HP:0032012	Heterotropia	3	FBXO28 CL E G H	23219	29046	OMIM:619777	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100
HP:0000496	HP:0020049	Exodeviation	3	FBXW11 CL E G H	23291	13607	OMIM:618914	NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME; NEDJED
HP:0000496	HP:0032012	Heterotropia	3	FBXW11 CL E G H	23291	13607	OMIM:618914	NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME; NEDJED
HP:0000496	HP:0020049	Exodeviation	3	FGF10 CL E G H	2255	3666	ORPHA:2363	Lacrimoauriculodentodigital syndrome			17
HP:0000496	HP:0032012	Heterotropia	3	FGF10 CL E G H	2255	3666	ORPHA:2363	Lacrimoauriculodentodigital syndrome			17
HP:0000496	HP:0000640	Gaze-evoked nystagmus	3	FGF14 CL E G H	2259	3671	OMIM:193003	Nystagmus 4, congenital, autosomal dominant	.		47
HP:0000496	HP:0007179	Absent smooth pursuit	3	FGF14 CL E G H	2259	3671	OMIM:193003	Nystagmus 4, congenital, autosomal dominant	.		47
HP:0000496	HP:0010544	Vertical nystagmus	3	FGF14 CL E G H	2259	3671	OMIM:193003	Nystagmus 4, congenital, autosomal dominant			47
HP:0000496	HP:0000640	Gaze-evoked nystagmus	3	FGF14 CL E G H	2259	3671	ORPHA:98764	Spinocerebellar ataxia type 27	HP:0040281 - Very frequent		47
HP:0000496	HP:0020049	Exodeviation	3	FGFR2 CL E G H	2263	3689	ORPHA:2363	Lacrimoauriculodentodigital syndrome			175
HP:0000496	HP:0032012	Heterotropia	3	FGFR2 CL E G H	2263	3689	ORPHA:2363	Lacrimoauriculodentodigital syndrome			175
HP:0000496	HP:0020049	Exodeviation	3	FGFR3 CL E G H	2261	3690	OMIM:616482	Achondroplasia, severe, with developmental delay and acanthosis nigricans			145
HP:0000496	HP:0032012	Heterotropia	3	FGFR3 CL E G H	2261	3690	OMIM:616482	Achondroplasia, severe, with developmental delay and acanthosis nigricans			145
HP:0000496	HP:0020049	Exodeviation	3	FGFR3 CL E G H	2261	3690	ORPHA:2363	Lacrimoauriculodentodigital syndrome			145
HP:0000496	HP:0032012	Heterotropia	3	FGFR3 CL E G H	2261	3690	ORPHA:2363	Lacrimoauriculodentodigital syndrome			145
HP:0000496	HP:0001361	Nystagmus-induced head nodding	3	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0000496	HP:0000544	External ophthalmoplegia	3	FRG1 CL E G H	2483	3954	OMIM:158900	Facioscapulohumeral muscular dystrophy 1	.		1
HP:0000496	HP:0020045	Esodeviation	3	FRMD5 CL E G H	84978	28214	OMIM:620094
HP:0000496	HP:0010543	Opsoclonus	3	FRMD5 CL E G H	84978	28214	OMIM:620094
HP:0000496	HP:0032012	Heterotropia	3	FRMD5 CL E G H	84978	28214	OMIM:620094
HP:0000496	HP:0000666	Horizontal nystagmus	3	FRMD7 CL E G H	90167	8079	OMIM:310700	Nystagmus 1, congenital, X-linked	.		38
HP:0000496	HP:0006934	Congenital nystagmus	3	FRMD7 CL E G H	90167	8079	OMIM:310700	Nystagmus 1, congenital, X-linked	.		38
HP:0000496	HP:0012043	Pendular nystagmus	3	FRMD7 CL E G H	90167	8079	OMIM:310700	Nystagmus 1, congenital, X-linked	.		38
HP:0000496	HP:0000511	Vertical supranuclear gaze palsy	3	FTL CL E G H	2512	3999	ORPHA:157846	Neuroferritinopathy			33
HP:0000496	HP:0020045	Esodeviation	3	FZD4 CL E G H	8322	4042	OMIM:133780	Exudative vitreoretinopathy 1			109
HP:0000496	HP:0032012	Heterotropia	3	FZD4 CL E G H	8322	4042	OMIM:133780	Exudative vitreoretinopathy 1			109
HP:0000496	HP:0020045	Esodeviation	3	GALC CL E G H	2581	4115	ORPHA:206443	Late-infantile/juvenile Krabbe disease			160
HP:0000496	HP:0032012	Heterotropia	3	GALC CL E G H	2581	4115	ORPHA:206443	Late-infantile/juvenile Krabbe disease			160
HP:0000496	HP:0020049	Exodeviation	3	GALNT2 CL E G H	2590	4124	OMIM:618885	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt; CDG2T
HP:0000496	HP:0032012	Heterotropia	3	GALNT2 CL E G H	2590	4124	OMIM:618885	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt; CDG2T
HP:0000496	HP:0000666	Horizontal nystagmus	3	GATA3 CL E G H	2625	4172	OMIM:146255	Hypoparathyroidism, sensorineural deafness, and renal dysplasia			83
HP:0000496	HP:0020045	Esodeviation	3	GBA1 CL E G H	2629	4177	OMIM:230900	Gaucher disease, type II
HP:0000496	HP:0032012	Heterotropia	3	GBA1 CL E G H	2629	4177	OMIM:230900	Gaucher disease, type II
HP:0000496	HP:0007817	Horizontal supranuclear gaze palsy	3	GBA1 CL E G H	2629	4177	OMIM:231000	Gaucher disease, type III	.
HP:0000496	HP:0000623	Supranuclear ophthalmoplegia	3	GBA1 CL E G H	2629	4177	OMIM:231005	Gaucher disease, type IIIC	.
HP:0000496	HP:0000666	Horizontal nystagmus	3	GBA1 CL E G H	2629	4177	OMIM:231005	Gaucher disease, type IIIC	.
HP:0000496	HP:0007885	Slowed horizontal saccades	3	GBA1 CL E G H	2629	4177	OMIM:231005	Gaucher disease, type IIIC	.
HP:0000496	HP:0007975	Hypometric horizontal saccades	3	GBA1 CL E G H	2629	4177	OMIM:231005	Gaucher disease, type IIIC	.
HP:0000496	HP:0010543	Opsoclonus	3	GBA1 CL E G H	2629	4177	ORPHA:2072	Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome	HP:0040284 - Very rare
HP:0000496	HP:0000666	Horizontal nystagmus	3	GCH1 CL E G H	2643	4193	ORPHA:98808	Autosomal dominant dopa-responsive dystonia	HP:0040283 - Occasional		86
HP:0000496	HP:0000640	Gaze-evoked nystagmus	3	GCH1 CL E G H	2643	4193	OMIM:128230	Dystonia, DOPA-responsive, with or without hyperphenylalaninemia			86
HP:0000496	HP:0000666	Horizontal nystagmus	3	GCH1 CL E G H	2643	4193	OMIM:128230	Dystonia, DOPA-responsive, with or without hyperphenylalaninemia			86
HP:0000496	HP:0012043	Pendular nystagmus	3	GFAP CL E G H	2670	4235	OMIM:203450	Alexander disease			188
HP:0000496	HP:0001583	Rotary nystagmus	3	GFER CL E G H	2671	4236	ORPHA:330054	Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome	HP:0040282 - Frequent		14
HP:0000496	HP:0000544	External ophthalmoplegia	3	GIPC1 CL E G H	10755	1226	ORPHA:98897	Oculopharyngodistal myopathy
HP:0000496	HP:0000544	External ophthalmoplegia	3	GIPC1 CL E G H	10755	1226	OMIM:618940	OCULOPHARYNGODISTAL MYOPATHY 2; OPDM2
HP:0000496	HP:0020045	Esodeviation	3	GJA5 CL E G H	2702	4279	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb			39
HP:0000496	HP:0020049	Exodeviation	3	GJA5 CL E G H	2702	4279	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb			39
HP:0000496	HP:0025068	Incomitant strabismus	3	GJA5 CL E G H	2702	4279	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb			39
HP:0000496	HP:0032011	Heterophoria	3	GJA5 CL E G H	2702	4279	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb			39
HP:0000496	HP:0020045	Esodeviation	3	GJA8 CL E G H	2703	4281	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb			34
HP:0000496	HP:0020049	Exodeviation	3	GJA8 CL E G H	2703	4281	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb			34
HP:0000496	HP:0025068	Incomitant strabismus	3	GJA8 CL E G H	2703	4281	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb			34
HP:0000496	HP:0032011	Heterophoria	3	GJA8 CL E G H	2703	4281	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb			34
HP:0000496	HP:0001583	Rotary nystagmus	3	GJC2 CL E G H	57165	17494	OMIM:608804	Leukodystrophy, hypomyelinating, 2	.		37
HP:0000496	HP:0020045	Esodeviation	3	GLRB CL E G H	2743	4329	OMIM:614619	Hyperekplexia 2			46
HP:0000496	HP:0032012	Heterotropia	3	GLRB CL E G H	2743	4329	OMIM:614619	Hyperekplexia 2			46
HP:0000496	HP:0000666	Horizontal nystagmus	3	GMPPA CL E G H	29926	22923	OMIM:615510	Alacrima, achalasia, and mental retardation syndrome			24
HP:0000496	HP:0020049	Exodeviation	3	GMPPA CL E G H	29926	22923	OMIM:615510	Alacrima, achalasia, and mental retardation syndrome			24
HP:0000496	HP:0020045	Esodeviation	3	GNA14 CL E G H	9630	4382	ORPHA:1063	Tufted angioma
HP:0000496	HP:0032012	Heterotropia	3	GNA14 CL E G H	9630	4382	ORPHA:1063	Tufted angioma
HP:0000496	HP:0012043	Pendular nystagmus	3	GNAT2 CL E G H	2780	4394	ORPHA:49382	Achromatopsia	HP:0040281 - Very frequent		19
HP:0000496	HP:0020045	Esodeviation	3	GNB1 CL E G H	2782	4396	OMIM:616973	Mental retardation, autosomal dominant 42			12
HP:0000496	HP:0020049	Exodeviation	3	GNB1 CL E G H	2782	4396	OMIM:616973	Mental retardation, autosomal dominant 42			12
HP:0000496	HP:0032012	Heterotropia	3	GNB1 CL E G H	2782	4396	OMIM:616973	Mental retardation, autosomal dominant 42			12
HP:0000496	HP:0020049	Exodeviation	3	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0000496	HP:0032012	Heterotropia	3	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0000496	HP:0001361	Nystagmus-induced head nodding	3	GPR143 CL E G H	4935	20145	OMIM:300500	Albinism, ocular, type I	.		64
HP:0000496	HP:0000666	Horizontal nystagmus	3	GPR143 CL E G H	4935	20145	OMIM:300814	Nystagmus 6, congenital, X-linked	.		64
HP:0000496	HP:0020045	Esodeviation	3	GRHL2 CL E G H	79977	2799	ORPHA:98973	Posterior polymorphous corneal dystrophy			33
HP:0000496	HP:0032012	Heterotropia	3	GRHL2 CL E G H	79977	2799	ORPHA:98973	Posterior polymorphous corneal dystrophy			33
HP:0000496	HP:0020049	Exodeviation	3	GRIA1 CL E G H	2890	4571	OMIM:619931				3
HP:0000496	HP:0000640	Gaze-evoked nystagmus	3	GRID2 CL E G H	2895	4576	ORPHA:363432	Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency	HP:0040282 - Frequent		18
HP:0000496	HP:0000666	Horizontal nystagmus	3	GRID2 CL E G H	2895	4576	ORPHA:363432	Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency	HP:0040282 - Frequent		18
HP:0000496	HP:0000666	Horizontal nystagmus	3	GRID2 CL E G H	2895	4576	OMIM:616204	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18; SCAR18			18
HP:0000496	HP:0020045	Esodeviation	3	GRID2 CL E G H	2895	4576	OMIM:616204	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18; SCAR18			18
HP:0000496	HP:0032012	Heterotropia	3	GRID2 CL E G H	2895	4576	OMIM:616204	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18; SCAR18			18
HP:0000496	HP:0000666	Horizontal nystagmus	3	GRIK2 CL E G H	2898	4580	OMIM:619580	NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND ATAXIA AND WITH OR WITHOUT SEIZURES; NEDLAS			32
HP:0000496	HP:0006934	Congenital nystagmus	3	GRIK2 CL E G H	2898	4580	OMIM:619580	NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND ATAXIA AND WITH OR WITHOUT SEIZURES; NEDLAS			32
HP:0000496	HP:0007824	Total ophthalmoplegia	3	GRIN1 CL E G H	2902	4584	ORPHA:208447	Bilateral generalized polymicrogyria	HP:0040283 - Occasional		108
HP:0000496	HP:0000640	Gaze-evoked nystagmus	3	GRM1 CL E G H	2911	4593	ORPHA:324262	Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency			8
HP:0000496	HP:0000666	Horizontal nystagmus	3	GRM1 CL E G H	2911	4593	ORPHA:324262	Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency			8
HP:0000496	HP:0020045	Esodeviation	3	GRM1 CL E G H	2911	4593	ORPHA:324262	Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency			8
HP:0000496	HP:0032012	Heterotropia	3	GRM1 CL E G H	2911	4593	ORPHA:324262	Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency			8
HP:0000496	HP:0000640	Gaze-evoked nystagmus	3	GRM1 CL E G H	2911	4593	OMIM:614831	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13; SCAR13			8
HP:0000496	HP:0000666	Horizontal nystagmus	3	GRM1 CL E G H	2911	4593	OMIM:614831	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13; SCAR13			8
HP:0000496	HP:0020045	Esodeviation	3	GRM1 CL E G H	2911	4593	OMIM:614831	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13; SCAR13			8
HP:0000496	HP:0032012	Heterotropia	3	GRM1 CL E G H	2911	4593	OMIM:614831	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13; SCAR13			8
HP:0000496	HP:0020045	Esodeviation	3	GTF2E2 CL E G H	2961	4651	ORPHA:33364	Trichothiodystrophy			2
HP:0000496	HP:0032012	Heterotropia	3	GTF2E2 CL E G H	2961	4651	ORPHA:33364	Trichothiodystrophy			2
HP:0000496	HP:0020045	Esodeviation	3	GTF2E2 CL E G H	2961	4651	OMIM:616943	Trichothiodystrophy 6, nonphotosensitive			2
HP:0000496	HP:0032012	Heterotropia	3	GTF2E2 CL E G H	2961	4651	OMIM:616943	Trichothiodystrophy 6, nonphotosensitive			2
HP:0000496	HP:0020045	Esodeviation	3	GTF2H5 CL E G H	404672	21157	ORPHA:33364	Trichothiodystrophy			3
HP:0000496	HP:0032012	Heterotropia	3	GTF2H5 CL E G H	404672	21157	ORPHA:33364	Trichothiodystrophy			3
HP:0000496	HP:0001361	Nystagmus-induced head nodding	3	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome	HP:0040282 - Frequent		1
HP:0000496	HP:0001361	Nystagmus-induced head nodding	3	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome	HP:0040282 - Frequent		1
HP:0000496	HP:0001361	Nystagmus-induced head nodding	3	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome	HP:0040282 - Frequent		1
HP:0000496	HP:0020045	Esodeviation	3	H4C11 CL E G H	8363	4785	OMIM:619759	TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 2; TEVANED2
HP:0000496	HP:0032012	Heterotropia	3	H4C11 CL E G H	8363	4785	OMIM:619759	TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 2; TEVANED2
HP:0000496	HP:0020045	Esodeviation	3	H4C3 CL E G H	8364	4787	OMIM:619758	TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 1; TEVANED1
HP:0000496	HP:0020049	Exodeviation	3	H4C5 CL E G H	8367	4790	OMIM:619950
HP:0000496	HP:0010877	Monocular strabismus	3	H4C5 CL E G H	8367	4790	OMIM:619950
HP:0000496	HP:0032012	Heterotropia	3	H4C5 CL E G H	8367	4790	OMIM:619950
HP:0000496	HP:0020049	Exodeviation	3	HACE1 CL E G H	57531	21033	ORPHA:464282	Spastic paraplegia-severe developmental delay-epilepsy syndrome			10
HP:0000496	HP:0032011	Heterophoria	3	HACE1 CL E G H	57531	21033	ORPHA:464282	Spastic paraplegia-severe developmental delay-epilepsy syndrome			10
HP:0000496	HP:0020049	Exodeviation	3	HADHA CL E G H	3030	4801	ORPHA:5	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency			99
HP:0000496	HP:0032012	Heterotropia	3	HADHA CL E G H	3030	4801	ORPHA:5	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency			99
HP:0000496	HP:0000666	Horizontal nystagmus	3	HARS1 CL E G H	3035	4816	OMIM:614504	Usher syndrome, type IIIB	.
HP:0000496	HP:0020045	Esodeviation	3	HERC2 CL E G H	8924	4868	OMIM:176270	Prader-Willi syndrome			38
HP:0000496	HP:0032012	Heterotropia	3	HERC2 CL E G H	8924	4868	OMIM:176270	Prader-Willi syndrome			38
HP:0000496	HP:0020045	Esodeviation	3	HMGB3 CL E G H	3149	5004	OMIM:300915	Microphthalmia, syndromic 13			2
HP:0000496	HP:0012043	Pendular nystagmus	3	HMGB3 CL E G H	3149	5004	OMIM:300915	Microphthalmia, syndromic 13	.		2
HP:0000496	HP:0032012	Heterotropia	3	HMGB3 CL E G H	3149	5004	OMIM:300915	Microphthalmia, syndromic 13			2
HP:0000496	HP:0000666	Horizontal nystagmus	3	HMX1 CL E G H	3166	5017	OMIM:612109	Oculoauricular syndrome			2
HP:0000496	HP:0020049	Exodeviation	3	HMX1 CL E G H	3166	5017	OMIM:612109	Oculoauricular syndrome			2
HP:0000496	HP:0006934	Congenital nystagmus	3	HMX1 CL E G H	3166	5017	OMIM:612109	Oculoauricular syndrome			2
HP:0000496	HP:0020049	Exodeviation	3	HNRNPH2 CL E G H	3188	5042	OMIM:300986	MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE; MRXSB			3
HP:0000496	HP:0032012	Heterotropia	3	HNRNPH2 CL E G H	3188	5042	OMIM:300986	MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE; MRXSB			3
HP:0000496	HP:0007817	Horizontal supranuclear gaze palsy	3	HOXA1 CL E G H	3198	5099	OMIM:601536	ATHABASKAN BRAINSTEM DYSGENESIS SYNDROME; ABDS			34
HP:0000496	HP:0025068	Incomitant strabismus	3	HOXA1 CL E G H	3198	5099	OMIM:601536	ATHABASKAN BRAINSTEM DYSGENESIS SYNDROME; ABDS			34
HP:0000496	HP:0020045	Esodeviation	3	HOXB1 CL E G H	3211	5111	OMIM:614744	Facial paresis, hereditary congenital, 3			2
HP:0000496	HP:0032011	Heterophoria	3	HOXB1 CL E G H	3211	5111	OMIM:614744	Facial paresis, hereditary congenital, 3			2
HP:0000496	HP:0032012	Heterotropia	3	HOXB1 CL E G H	3211	5111	OMIM:614744	Facial paresis, hereditary congenital, 3			2
HP:0000496	HP:0000544	External ophthalmoplegia	3	HPDL CL E G H	84842	28242	OMIM:619026	NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE SPASTICITY AND BRAIN WHITE MATTER ABNORMALITIES; NEDSWMA
HP:0000496	HP:0020045	Esodeviation	3	HPDL CL E G H	84842	28242	OMIM:619026	NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE SPASTICITY AND BRAIN WHITE MATTER ABNORMALITIES; NEDSWMA
HP:0000496	HP:0020049	Exodeviation	3	HPDL CL E G H	84842	28242	OMIM:619026	NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE SPASTICITY AND BRAIN WHITE MATTER ABNORMALITIES; NEDSWMA
HP:0000496	HP:0032012	Heterotropia	3	HPDL CL E G H	84842	28242	OMIM:619026	NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE SPASTICITY AND BRAIN WHITE MATTER ABNORMALITIES; NEDSWMA
HP:0000496	HP:0000666	Horizontal nystagmus	3	HPS3 CL E G H	84343	15597	OMIM:614072	Hermansky-Pudlak syndrome 3			67
HP:0000496	HP:0020045	Esodeviation	3	HPS3 CL E G H	84343	15597	OMIM:614072	Hermansky-Pudlak syndrome 3			67
HP:0000496	HP:0006934	Congenital nystagmus	3	HPS3 CL E G H	84343	15597	OMIM:614072	Hermansky-Pudlak syndrome 3			67
HP:0000496	HP:0032012	Heterotropia	3	HPS3 CL E G H	84343	15597	OMIM:614072	Hermansky-Pudlak syndrome 3			67
HP:0000496	HP:0000666	Horizontal nystagmus	3	HPS4 CL E G H	89781	15844	OMIM:614073	Hermansky-Pudlak syndrome 4	.		123
HP:0000496	HP:0000666	Horizontal nystagmus	3	HPS5 CL E G H	11234	17022	OMIM:614074	Hermansky-Pudlak syndrome 5	.		105
HP:0000496	HP:0020045	Esodeviation	3	HUWE1 CL E G H	10075	30892	OMIM:309590	Mental retardation, x-linked syndromic, Turner type			98
HP:0000496	HP:0032012	Heterotropia	3	HUWE1 CL E G H	10075	30892	OMIM:309590	Mental retardation, x-linked syndromic, Turner type			98
HP:0000496	HP:0000666	Horizontal nystagmus	3	IARS2 CL E G H	55699	29685	OMIM:616007	Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia	.		25
HP:0000496	HP:0020045	Esodeviation	3	IARS2 CL E G H	55699	29685	OMIM:616007	Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia			25
HP:0000496	HP:0032012	Heterotropia	3	IARS2 CL E G H	55699	29685	OMIM:616007	Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia			25
HP:0000496	HP:0000666	Horizontal nystagmus	3	IDH1 CL E G H	3417	5382	ORPHA:99646	Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria			15
HP:0000496	HP:0000666	Horizontal nystagmus	3	IMPDH2 CL E G H	3615	6053	ORPHA:98808	Autosomal dominant dopa-responsive dystonia	HP:0040283 - Occasional		1
HP:0000496	HP:0020045	Esodeviation	3	IPW CL E G H	3653	6109	OMIM:176270	Prader-Willi syndrome
HP:0000496	HP:0032012	Heterotropia	3	IPW CL E G H	3653	6109	OMIM:176270	Prader-Willi syndrome
HP:0000496	HP:0000666	Horizontal nystagmus	3	IQSEC2 CL E G H	23096	29059	ORPHA:397933	Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome	HP:0040283 - Occasional		119
HP:0000496	HP:0020045	Esodeviation	3	IRF2BPL CL E G H	64207	14282	OMIM:618088	Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures
HP:0000496	HP:0032012	Heterotropia	3	IRF2BPL CL E G H	64207	14282	OMIM:618088	Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures
HP:0000496	HP:0000640	Gaze-evoked nystagmus	3	ITPR1 CL E G H	3708	6180	OMIM:606658	Spinocerebellar ataxia 15			177
HP:0000496	HP:0000666	Horizontal nystagmus	3	ITPR1 CL E G H	3708	6180	OMIM:606658	Spinocerebellar ataxia 15			177
HP:0000496	HP:0000640	Gaze-evoked nystagmus	3	ITPR1 CL E G H	3708	6180	OMIM:117360	Spinocerebellar ataxia 29			177
HP:0000496	HP:0020045	Esodeviation	3	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome			34
HP:0000496	HP:0032012	Heterotropia	3	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome			34
HP:0000496	HP:0020045	Esodeviation	3	KAT8 CL E G H	84148	17933	OMIM:618974	LI-GHORBANI-WEISZ-HUBSHMAN SYNDROME; LIGOWS
HP:0000496	HP:0032012	Heterotropia	3	KAT8 CL E G H	84148	17933	OMIM:618974	LI-GHORBANI-WEISZ-HUBSHMAN SYNDROME; LIGOWS
HP:0000496	HP:0000511	Vertical supranuclear gaze palsy	3	KCNC3 CL E G H	3748	6235	ORPHA:98768	Spinocerebellar ataxia type 13			17
HP:0000496	HP:0000640	Gaze-evoked nystagmus	3	KCND3 CL E G H	3752	6239	OMIM:607346	Spinocerebellar ataxia 19			35
HP:0000496	HP:0000666	Horizontal nystagmus	3	KCND3 CL E G H	3752	6239	OMIM:607346	Spinocerebellar ataxia 19			35
HP:0000496	HP:0007944	Intermittent microsaccadic pursuits	3	KCND3 CL E G H	3752	6239	OMIM:607346	Spinocerebellar ataxia 19	.		35
HP:0000496	HP:0000666	Horizontal nystagmus	3	KCNH1 CL E G H	3756	6250	OMIM:135500	Zimmermann-Laband syndrome 1			13
HP:0000496	HP:0020045	Esodeviation	3	KCNMA1 CL E G H	3778	6284	ORPHA:79137	Generalized epilepsy-paroxysmal dyskinesia syndrome			114
HP:0000496	HP:0032012	Heterotropia	3	KCNMA1 CL E G H	3778	6284	ORPHA:79137	Generalized epilepsy-paroxysmal dyskinesia syndrome			114
HP:0000496	HP:0001583	Rotary nystagmus	3	KCNN2 CL E G H	3781	6291	OMIM:619724	DYSTONIA 34, MYOCLONIC; DYT34
HP:0000496	HP:0025068	Incomitant strabismus	3	KCNN2 CL E G H	3781	6291	OMIM:619724	DYSTONIA 34, MYOCLONIC; DYT34
HP:0000496	HP:0000666	Horizontal nystagmus	3	KCNV2 CL E G H	169522	19698	OMIM:610356	Retinal cone dystrophy 3B	.		73
HP:0000496	HP:0020049	Exodeviation	3	KDM1A CL E G H	23028	29079	OMIM:616728	Cleft palate, psychomotor retardation, and distinctive facial features			3
HP:0000496	HP:0032012	Heterotropia	3	KDM1A CL E G H	23028	29079	OMIM:616728	Cleft palate, psychomotor retardation, and distinctive facial features			3
HP:0000496	HP:0020049	Exodeviation	3	KDM1A CL E G H	23028	29079	ORPHA:477993	Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome			3
HP:0000496	HP:0032012	Heterotropia	3	KDM1A CL E G H	23028	29079	ORPHA:477993	Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome			3
HP:0000496	HP:0020045	Esodeviation	3	KDM6B CL E G H	23135	29012	OMIM:618505	Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities			9
HP:0000496	HP:0020049	Exodeviation	3	KDM6B CL E G H	23135	29012	OMIM:618505	Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities			9
HP:0000496	HP:0032012	Heterotropia	3	KDM6B CL E G H	23135	29012	OMIM:618505	Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities			9
HP:0000496	HP:0025068	Incomitant strabismus	3	KIAA0586 CL E G H	9786	19960	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy			24
HP:0000496	HP:0020045	Esodeviation	3	KIAA0753 CL E G H	9851	29110	OMIM:619476	JOUBERT SYNDROME 38; JBTS38			4
HP:0000496	HP:0032012	Heterotropia	3	KIAA0753 CL E G H	9851	29110	OMIM:619476	JOUBERT SYNDROME 38; JBTS38			4
HP:0000496	HP:0020045	Esodeviation	3	KIAA0753 CL E G H	9851	29110	ORPHA:2754	Orofaciodigital syndrome type 6			4
HP:0000496	HP:0032012	Heterotropia	3	KIAA0753 CL E G H	9851	29110	ORPHA:2754	Orofaciodigital syndrome type 6			4
HP:0000496	HP:0020045	Esodeviation	3	KIDINS220 CL E G H	57498	29508	OMIM:617296	SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY; SINO			4
HP:0000496	HP:0032012	Heterotropia	3	KIDINS220 CL E G H	57498	29508	OMIM:617296	SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY; SINO			4
HP:0000496	HP:0020045	Esodeviation	3	KIDINS220 CL E G H	57498	29508	ORPHA:521390	Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome			4
HP:0000496	HP:0032011	Heterophoria	3	KIDINS220 CL E G H	57498	29508	ORPHA:521390	Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome			4
HP:0000496	HP:0010543	Opsoclonus	3	KIF1B CL E G H	23095	16636	OMIM:256700	Neuroblastoma, susceptibility to	.		202
HP:0000496	HP:0000666	Horizontal nystagmus	3	KIF1C CL E G H	10749	6317	ORPHA:397946	Autosomal spastic paraplegia type 58	HP:0040282 - Frequent		38
HP:0000496	HP:0000666	Horizontal nystagmus	3	KIF1C CL E G H	10749	6317	OMIM:611302	Spastic ataxia 2, autosomal recessive	.		38
HP:0000496	HP:0000544	External ophthalmoplegia	3	KIF21A CL E G H	55605	19349	OMIM:135700	Fibrosis of extraocular muscles, congenital, 1			93
HP:0000496	HP:0020045	Esodeviation	3	KIF21A CL E G H	55605	19349	OMIM:135700	Fibrosis of extraocular muscles, congenital, 1			93
HP:0000496	HP:0020049	Exodeviation	3	KIF21A CL E G H	55605	19349	OMIM:135700	Fibrosis of extraocular muscles, congenital, 1			93
HP:0000496	HP:0032012	Heterotropia	3	KIF21A CL E G H	55605	19349	OMIM:135700	Fibrosis of extraocular muscles, congenital, 1			93
HP:0000496	HP:0020045	Esodeviation	3	KIF7 CL E G H	374654	30497	ORPHA:2754	Orofaciodigital syndrome type 6			167
HP:0000496	HP:0032012	Heterotropia	3	KIF7 CL E G H	374654	30497	ORPHA:2754	Orofaciodigital syndrome type 6			167
HP:0000496	HP:0006934	Congenital nystagmus	3	KRT14 CL E G H	3861	6416	ORPHA:79396	Autosomal dominant generalized epidermolysis bullosa simplex, severe form	HP:0040283 - Occasional		110
HP:0000496	HP:0006934	Congenital nystagmus	3	KRT5 CL E G H	3852	6442	ORPHA:79396	Autosomal dominant generalized epidermolysis bullosa simplex, severe form	HP:0040283 - Occasional		173
HP:0000496	HP:0020045	Esodeviation	3	LAGE3 CL E G H	8270	26058	OMIM:301006	Galloway-Mowat syndrome 2, X-linked
HP:0000496	HP:0032012	Heterotropia	3	LAGE3 CL E G H	8270	26058	OMIM:301006	Galloway-Mowat syndrome 2, X-linked
HP:0000496	HP:0000666	Horizontal nystagmus	3	LARGE1 CL E G H	9215	6511	OMIM:608840	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6	.		136
HP:0000496	HP:0020049	Exodeviation	3	LCA5 CL E G H	167691	31923	ORPHA:364055	Severe early-childhood-onset retinal dystrophy			70
HP:0000496	HP:0032012	Heterotropia	3	LCA5 CL E G H	167691	31923	ORPHA:364055	Severe early-childhood-onset retinal dystrophy			70
HP:0000496	HP:0020045	Esodeviation	3	LGI4 CL E G H	163175	18712	OMIM:617468	Arthrogryposis multiplex congenita, neurogenic, with myelin defect			6
HP:0000496	HP:0032012	Heterotropia	3	LGI4 CL E G H	163175	18712	OMIM:617468	Arthrogryposis multiplex congenita, neurogenic, with myelin defect			6
HP:0000496	HP:0000544	External ophthalmoplegia	3	LIG3 CL E G H	3980	6600	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy	HP:0040281 - Very frequent		1
HP:0000496	HP:0001361	Nystagmus-induced head nodding	3	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0000496	HP:0020045	Esodeviation	3	LMBRD2 CL E G H	92255	25287	OMIM:619694	DEVELOPMENTAL DELAY WITH VARIABLE NEUROLOGIC AND BRAIN ABNORMALITIES; DENBA
HP:0000496	HP:0032012	Heterotropia	3	LMBRD2 CL E G H	92255	25287	OMIM:619694	DEVELOPMENTAL DELAY WITH VARIABLE NEUROLOGIC AND BRAIN ABNORMALITIES; DENBA
HP:0000496	HP:0000666	Horizontal nystagmus	3	LMNB1 CL E G H	4001	6637	ORPHA:2514	Autosomal dominant primary microcephaly	HP:0040283 - Occasional		44
HP:0000496	HP:0020045	Esodeviation	3	LMNB1 CL E G H	4001	6637	ORPHA:2514	Autosomal dominant primary microcephaly			44
HP:0000496	HP:0032012	Heterotropia	3	LMNB1 CL E G H	4001	6637	ORPHA:2514	Autosomal dominant primary microcephaly			44
HP:0000496	HP:0020049	Exodeviation	3	LRAT CL E G H	9227	6685	ORPHA:364055	Severe early-childhood-onset retinal dystrophy			62
HP:0000496	HP:0032012	Heterotropia	3	LRAT CL E G H	9227	6685	ORPHA:364055	Severe early-childhood-onset retinal dystrophy			62
HP:0000496	HP:0000544	External ophthalmoplegia	3	LRP12 CL E G H	29967	31708	OMIM:164310	Oculopharyngodistal myopathy 1
HP:0000496	HP:0020045	Esodeviation	3	LRP5 CL E G H	4041	6697	OMIM:133780	Exudative vitreoretinopathy 1			125
HP:0000496	HP:0032012	Heterotropia	3	LRP5 CL E G H	4041	6697	OMIM:133780	Exudative vitreoretinopathy 1			125
HP:0000496	HP:0000666	Horizontal nystagmus	3	LRP5 CL E G H	4041	6697	OMIM:601813	Exudative vitreoretinopathy 4			125
HP:0000496	HP:0006934	Congenital nystagmus	3	LRP5 CL E G H	4041	6697	OMIM:601813	Exudative vitreoretinopathy 4			125
HP:0000496	HP:0012043	Pendular nystagmus	3	LRP5 CL E G H	4041	6697	OMIM:601813	Exudative vitreoretinopathy 4			125
HP:0000496	HP:0006934	Congenital nystagmus	3	LRP5 CL E G H	4041	6697	ORPHA:2788	Osteoporosis-pseudoglioma syndrome	HP:0040283 - Occasional		125
HP:0000496	HP:0000544	External ophthalmoplegia	3	LYRM7 CL E G H	90624	28072	OMIM:615838	Mitochondrial complex III deficiency, nuclear type 8	.		10
HP:0000496	HP:0020049	Exodeviation	3	LYRM7 CL E G H	90624	28072	OMIM:615838	Mitochondrial complex III deficiency, nuclear type 8			10
HP:0000496	HP:0032012	Heterotropia	3	LYRM7 CL E G H	90624	28072	OMIM:615838	Mitochondrial complex III deficiency, nuclear type 8			10
HP:0000496	HP:0000666	Horizontal nystagmus	3	LYST CL E G H	1130	1968	ORPHA:167	Chédiak-Higashi syndrome	HP:0040283 - Occasional		239
HP:0000496	HP:0001583	Rotary nystagmus	3	LYST CL E G H	1130	1968	ORPHA:167	Chédiak-Higashi syndrome	HP:0040282 - Frequent		239
HP:0000496	HP:0000666	Horizontal nystagmus	3	MAB21L1 CL E G H	4081	6757	OMIM:618479	Cerebellar, ocular, craniofacial, and genital syndrome	.
HP:0000496	HP:0020045	Esodeviation	3	MADD CL E G H	8567	6766	OMIM:619004	DEEAH SYNDROME; DEEAH			5
HP:0000496	HP:0032012	Heterotropia	3	MADD CL E G H	8567	6766	OMIM:619004	DEEAH SYNDROME; DEEAH			5
HP:0000496	HP:0020049	Exodeviation	3	MADD CL E G H	8567	6766	OMIM:619005	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA; NEDDISH			5
HP:0000496	HP:0032012	Heterotropia	3	MADD CL E G H	8567	6766	OMIM:619005	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA; NEDDISH			5
HP:0000496	HP:0025068	Incomitant strabismus	3	MAFB CL E G H	9935	6408	OMIM:617041	Duane retraction syndrome 3 with or without deafness			63
HP:0000496	HP:0020045	Esodeviation	3	MAGEL2 CL E G H	54551	6814	ORPHA:398069	MAGEL2-related Prader-Willi-like syndrome			63
HP:0000496	HP:0032012	Heterotropia	3	MAGEL2 CL E G H	54551	6814	ORPHA:398069	MAGEL2-related Prader-Willi-like syndrome			63
HP:0000496	HP:0020045	Esodeviation	3	MAGEL2 CL E G H	54551	6814	OMIM:176270	Prader-Willi syndrome			63
HP:0000496	HP:0032012	Heterotropia	3	MAGEL2 CL E G H	54551	6814	OMIM:176270	Prader-Willi syndrome			63
HP:0000496	HP:0020045	Esodeviation	3	MAGEL2 CL E G H	54551	6814	OMIM:615547	Schaaf-Yang syndrome			63
HP:0000496	HP:0032012	Heterotropia	3	MAGEL2 CL E G H	54551	6814	OMIM:615547	Schaaf-Yang syndrome			63
HP:0000496	HP:0000511	Vertical supranuclear gaze palsy	3	MAPT CL E G H	4137	6893	ORPHA:240071	Classic progressive supranuclear palsy syndrome	HP:0040282 - Frequent		140
HP:0000496	HP:0000511	Vertical supranuclear gaze palsy	3	MAPT CL E G H	4137	6893	ORPHA:240103	Progressive supranuclear palsy-corticobasal syndrome	HP:0040282 - Frequent		140
HP:0000496	HP:0007885	Slowed horizontal saccades	3	MAPT CL E G H	4137	6893	ORPHA:240103	Progressive supranuclear palsy-corticobasal syndrome	HP:0040282 - Frequent		140
HP:0000496	HP:0000511	Vertical supranuclear gaze palsy	3	MAPT CL E G H	4137	6893	ORPHA:240085	Progressive supranuclear palsy-parkinsonism syndrome	HP:0040281 - Very frequent		140
HP:0000496	HP:0000511	Vertical supranuclear gaze palsy	3	MAPT CL E G H	4137	6893	ORPHA:240112	Progressive supranuclear palsy-progressive non-fluent aphasia syndrome	HP:0040283 - Occasional		140
HP:0000496	HP:0000666	Horizontal nystagmus	3	MARS2 CL E G H	92935	25133	ORPHA:314603	Autosomal recessive spastic ataxia with leukoencephalopathy	HP:0040282 - Frequent		25
HP:0000496	HP:0000666	Horizontal nystagmus	3	MARS2 CL E G H	92935	25133	OMIM:611390	Spastic ataxia 3, autosomal recessive	.		25
HP:0000496	HP:0020045	Esodeviation	3	MBD5 CL E G H	55777	20444	OMIM:156200	Mental retardation, autosomal dominant 1			252
HP:0000496	HP:0032012	Heterotropia	3	MBD5 CL E G H	55777	20444	OMIM:156200	Mental retardation, autosomal dominant 1			252
HP:0000496	HP:0020049	Exodeviation	3	MC1R CL E G H	4157	6929	OMIM:203200	Albinism, oculocutaneous, type II			124
HP:0000496	HP:0032012	Heterotropia	3	MC1R CL E G H	4157	6929	OMIM:203200	Albinism, oculocutaneous, type II			124
HP:0000496	HP:0020045	Esodeviation	3	MECR CL E G H	51102	19691	OMIM:617282	Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities			6
HP:0000496	HP:0032011	Heterophoria	3	MECR CL E G H	51102	19691	OMIM:617282	Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities			6
HP:0000496	HP:0020045	Esodeviation	3	MECR CL E G H	51102	19691	ORPHA:508093	MEPAN syndrome			6
HP:0000496	HP:0032011	Heterophoria	3	MECR CL E G H	51102	19691	ORPHA:508093	MEPAN syndrome			6
HP:0000496	HP:0020045	Esodeviation	3	MED12 CL E G H	9968	11957	OMIM:301068	HARDIKAR SYNDROME; HDKR			228
HP:0000496	HP:0032012	Heterotropia	3	MED12 CL E G H	9968	11957	OMIM:301068	HARDIKAR SYNDROME; HDKR			228
HP:0000496	HP:0025068	Incomitant strabismus	3	MED13 CL E G H	9969	22474	OMIM:618009	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 61; MRD61			4
HP:0000496	HP:0020045	Esodeviation	3	MEG3 CL E G H	55384	14575	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion			1
HP:0000496	HP:0032012	Heterotropia	3	MEG3 CL E G H	55384	14575	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion			1
HP:0000496	HP:0007942	Internal ophthalmoplegia	3	MEN1 CL E G H	4221	7010	ORPHA:2965	Prolactinoma	HP:0040283 - Occasional		462
HP:0000496	HP:0001361	Nystagmus-induced head nodding	3	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome	HP:0040282 - Frequent		1
HP:0000496	HP:0000544	External ophthalmoplegia	3	MFF CL E G H	56947	24858	OMIM:617086	Encephalopathy due to defective mitochondrial and peroxisomal fission 2	.		17
HP:0000496	HP:0000544	External ophthalmoplegia	3	MFF CL E G H	56947	24858	ORPHA:485421	MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect	HP:0040282 - Frequent		17
HP:0000496	HP:0000544	External ophthalmoplegia	3	MGME1 CL E G H	92667	16205	OMIM:615084	Mitochondrial DNA depletion syndrome 11			11
HP:0000496	HP:0000544	External ophthalmoplegia	3	MGME1 CL E G H	92667	16205	ORPHA:352447	Progressive external ophthalmoplegia-myopathy-emaciation syndrome			11
HP:0000496	HP:0020045	Esodeviation	3	MKRN3 CL E G H	7681	7114	OMIM:176270	Prader-Willi syndrome			5
HP:0000496	HP:0032012	Heterotropia	3	MKRN3 CL E G H	7681	7114	OMIM:176270	Prader-Willi syndrome			5
HP:0000496	HP:0020045	Esodeviation	3	MKRN3-AS1 CL E G H	10108		OMIM:176270	Prader-Willi syndrome
HP:0000496	HP:0032012	Heterotropia	3	MKRN3-AS1 CL E G H	10108		OMIM:176270	Prader-Willi syndrome
HP:0000496	HP:0001583	Rotary nystagmus	3	MKS1 CL E G H	54903	7121	OMIM:249000	Meckel syndrome 1			127
HP:0000496	HP:0001361	Nystagmus-induced head nodding	3	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome	HP:0040282 - Frequent		1
HP:0000496	HP:0025068	Incomitant strabismus	3	MN1 CL E G H	4330	7180	OMIM:618774	CEBALID SYNDROME; CEBALID			1
HP:0000496	HP:0001583	Rotary nystagmus	3	MPC1 CL E G H	51660	21606	OMIM:614741	Mitochondrial pyruvate carrier deficiency	HP:0040283 - Occasional		6
HP:0000496	HP:0020045	Esodeviation	3	MPLKIP CL E G H	136647	16002	ORPHA:33364	Trichothiodystrophy			9
HP:0000496	HP:0032012	Heterotropia	3	MPLKIP CL E G H	136647	16002	ORPHA:33364	Trichothiodystrophy			9
HP:0000496	HP:0000640	Gaze-evoked nystagmus	3	MRE11 CL E G H	4361	7230	ORPHA:251347	Ataxia-telangiectasia-like disorder	HP:0040283 - Occasional		532
HP:0000496	HP:0010544	Vertical nystagmus	3	MRE11 CL E G H	4361	7230	ORPHA:251347	Ataxia-telangiectasia-like disorder	HP:0040283 - Occasional		532
HP:0000496	HP:0000640	Gaze-evoked nystagmus	3	MRE11 CL E G H	4361	7230	OMIM:604391	Ataxia-Telangiectasia-Like disorder 1	.		532
HP:0000496	HP:0000666	Horizontal nystagmus	3	MRPL12 CL E G H	6182	10378	OMIM:618951	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 45; COXPD45			11
HP:0000496	HP:0020049	Exodeviation	3	MRPS2 CL E G H	51116	14495	OMIM:617950	Combined oxidative phosphorylation deficiency 36
HP:0000496	HP:0020049	Exodeviation	3	MRPS34 CL E G H	65993	16618	OMIM:617664	Combined oxidative phosphorylation deficiency 32			1
HP:0000496	HP:0032012	Heterotropia	3	MRPS34 CL E G H	65993	16618	OMIM:617664	Combined oxidative phosphorylation deficiency 32			1
HP:0000496	HP:0000511	Vertical supranuclear gaze palsy	3	MTFMT CL E G H	123263	29666	OMIM:618248	Mitochondrial complex I deficiency, nuclear type 27			29
HP:0000496	HP:0000544	External ophthalmoplegia	3	MTM1 CL E G H	4534	7448	OMIM:310400	Myopathy, centronuclear, X-linked	.		185
HP:0000496	HP:0000544	External ophthalmoplegia	3	MTMR14 CL E G H	64419	26190	ORPHA:169189	Autosomal dominant centronuclear myopathy	HP:0040283 - Occasional		7
HP:0000496	HP:0000544	External ophthalmoplegia	3	MTMR14 CL E G H	64419	26190	OMIM:160150	Myopathy, centronuclear, autosomal dominant			7
HP:0000496	HP:0020049	Exodeviation	3	MTRFR CL E G H	91574	26784	ORPHA:254930	Combined oxidative phosphorylation defect type 7	HP:0040283 - Occasional
HP:0000496	HP:0000544	External ophthalmoplegia	3	MTRFR CL E G H	91574	26784	OMIM:613559	Combined oxidative phosphorylation deficiency 7
HP:0000496	HP:0000544	External ophthalmoplegia	3	MYF5 CL E G H	4617	7565	OMIM:618155	Ophthalmoplegia, external, with rib and vertebral anomalies	.	HP:0003577 - Congenital onset
HP:0000496	HP:0020049	Exodeviation	3	MYF5 CL E G H	4617	7565	OMIM:618155	Ophthalmoplegia, external, with rib and vertebral anomalies
HP:0000496	HP:0025588	Hypodeviation	3	MYF5 CL E G H	4617	7565	OMIM:618155	Ophthalmoplegia, external, with rib and vertebral anomalies
HP:0000496	HP:0032012	Heterotropia	3	MYF5 CL E G H	4617	7565	OMIM:618155	Ophthalmoplegia, external, with rib and vertebral anomalies
HP:0000496	HP:0000544	External ophthalmoplegia	3	MYF6 CL E G H	4618	7566	ORPHA:169189	Autosomal dominant centronuclear myopathy	HP:0040283 - Occasional		19
HP:0000496	HP:0020045	Esodeviation	3	MYO9A CL E G H	4649	7608	ORPHA:98914	Presynaptic congenital myasthenic syndromes
HP:0000496	HP:0032012	Heterotropia	3	MYO9A CL E G H	4649	7608	ORPHA:98914	Presynaptic congenital myasthenic syndromes
HP:0000496	HP:0020045	Esodeviation	3	MYOD1 CL E G H	4654	7611	OMIM:618975	MYOPATHY, CONGENITAL, WITH DIAPHRAGMATIC DEFECTS, RESPIRATORY INSUFFICIENCY, AND DYSMORPHIC FACIES; MYODRIF
HP:0000496	HP:0032012	Heterotropia	3	MYOD1 CL E G H	4654	7611	OMIM:618975	MYOPATHY, CONGENITAL, WITH DIAPHRAGMATIC DEFECTS, RESPIRATORY INSUFFICIENCY, AND DYSMORPHIC FACIES; MYODRIF
HP:0000496	HP:0020045	Esodeviation	3	NALCN CL E G H	259232	19082	OMIM:616266	Congenital contractures of the limbs and face, hypotonia, and developmental delay			48
HP:0000496	HP:0032012	Heterotropia	3	NALCN CL E G H	259232	19082	OMIM:616266	Congenital contractures of the limbs and face, hypotonia, and developmental delay			48
HP:0000496	HP:0020045	Esodeviation	3	NALCN CL E G H	259232	19082	ORPHA:371364	Hypotonia-speech impairment-severe cognitive delay syndrome			48
HP:0000496	HP:0032012	Heterotropia	3	NALCN CL E G H	259232	19082	ORPHA:371364	Hypotonia-speech impairment-severe cognitive delay syndrome			48
HP:0000496	HP:0000511	Vertical supranuclear gaze palsy	3	NAXE CL E G H	128240	18453	OMIM:617186	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1			9
HP:0000496	HP:0020045	Esodeviation	3	NCDN CL E G H	23154	17597	OMIM:619373	NEURODEVELOPMENTAL DISORDER WITH INFANTILE EPILEPTIC SPASMS; NEDIES
HP:0000496	HP:0032012	Heterotropia	3	NCDN CL E G H	23154	17597	OMIM:619373	NEURODEVELOPMENTAL DISORDER WITH INFANTILE EPILEPTIC SPASMS; NEDIES
HP:0000496	HP:0001361	Nystagmus-induced head nodding	3	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome	HP:0040282 - Frequent		13
HP:0000496	HP:0000544	External ophthalmoplegia	3	ND1 CL E G H	4535	7455	ORPHA:550	MELAS
HP:0000496	HP:0000544	External ophthalmoplegia	3	ND4 CL E G H	4538	7459	ORPHA:550	MELAS
HP:0000496	HP:0000544	External ophthalmoplegia	3	ND5 CL E G H	4540	7461	ORPHA:550	MELAS
HP:0000496	HP:0000544	External ophthalmoplegia	3	ND6 CL E G H	4541	7462	ORPHA:550	MELAS
HP:0000496	HP:0000544	External ophthalmoplegia	3	NDUFAF2 CL E G H	91942	28086	OMIM:618233	Mitochondrial complex I deficiency, nuclear type 10	HP:0040284 - Very rare		26
HP:0000496	HP:0010544	Vertical nystagmus	3	NDUFS8 CL E G H	4728	7715	OMIM:618222	Mitochondrial complex I deficiency, nuclear type 2			42
HP:0000496	HP:0000511	Vertical supranuclear gaze palsy	3	NEK9 CL E G H	91754	18591	OMIM:614262	Arthrogryposis, perthes disease, and upward gaze palsy			9
HP:0000496	HP:0020045	Esodeviation	3	NEUROD2 CL E G H	4761	7763	OMIM:618374	Epileptic encephalopathy, early infantile, 72
HP:0000496	HP:0032012	Heterotropia	3	NEUROD2 CL E G H	4761	7763	OMIM:618374	Epileptic encephalopathy, early infantile, 72
HP:0000496	HP:0020045	Esodeviation	3	NEXMIF CL E G H	340533	29433	OMIM:300912	Mental retardation, X-linked 98			52
HP:0000496	HP:0032012	Heterotropia	3	NEXMIF CL E G H	340533	29433	OMIM:300912	Mental retardation, X-linked 98			52
HP:0000496	HP:0020045	Esodeviation	3	NEXMIF CL E G H	340533	29433	ORPHA:85277	X-linked intellectual disability, Cantagrel type			52
HP:0000496	HP:0032012	Heterotropia	3	NEXMIF CL E G H	340533	29433	ORPHA:85277	X-linked intellectual disability, Cantagrel type			52
HP:0000496	HP:0000666	Horizontal nystagmus	3	NFIX CL E G H	4784	7788	ORPHA:447980	19p13.3 microduplication syndrome	HP:0040283 - Occasional		40
HP:0000496	HP:0020049	Exodeviation	3	NGLY1 CL E G H	55768	17646	ORPHA:404454	Alacrimia-choreoathetosis-liver dysfunction syndrome			32
HP:0000496	HP:0032012	Heterotropia	3	NGLY1 CL E G H	55768	17646	ORPHA:404454	Alacrimia-choreoathetosis-liver dysfunction syndrome			32
HP:0000496	HP:0000666	Horizontal nystagmus	3	NMNAT1 CL E G H	64802	17877	OMIM:608553	Leber congenital amaurosis 9			15
HP:0000496	HP:0020049	Exodeviation	3	NMNAT1 CL E G H	64802	17877	OMIM:619260	SPONDYLOEPIPHYSEAL DYSPLASIA, SENSORINEURAL HEARING LOSS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND LEBER CONGENITAL AMAUROSIS; SHILCA			15
HP:0000496	HP:0032012	Heterotropia	3	NMNAT1 CL E G H	64802	17877	OMIM:619260	SPONDYLOEPIPHYSEAL DYSPLASIA, SENSORINEURAL HEARING LOSS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND LEBER CONGENITAL AMAUROSIS; SHILCA			15
HP:0000496	HP:0020049	Exodeviation	3	NONO CL E G H	4841	7871	ORPHA:466791	Macrocephaly-intellectual disability-left ventricular non compaction syndrome			10
HP:0000496	HP:0032012	Heterotropia	3	NONO CL E G H	4841	7871	ORPHA:466791	Macrocephaly-intellectual disability-left ventricular non compaction syndrome			10
HP:0000496	HP:0000511	Vertical supranuclear gaze palsy	3	NOP56 CL E G H	10528	15911	OMIM:614153	Spinocerebellar ataxia 36			9
HP:0000496	HP:0000544	External ophthalmoplegia	3	NOTCH2NLC CL E G H	100996717	53924	ORPHA:98897	Oculopharyngodistal myopathy
HP:0000496	HP:0020045	Esodeviation	3	NPAP1 CL E G H	23742	1190	OMIM:176270	Prader-Willi syndrome			1
HP:0000496	HP:0032012	Heterotropia	3	NPAP1 CL E G H	23742	1190	OMIM:176270	Prader-Willi syndrome			1
HP:0000496	HP:0000511	Vertical supranuclear gaze palsy	3	NPC1 CL E G H	4864	7897	OMIM:257220	Niemann-pick disease, type C1	.		258
HP:0000496	HP:0000511	Vertical supranuclear gaze palsy	3	NPC2 CL E G H	10577	14537	OMIM:607625	Niemann-pick disease, type C2	.		33
HP:0000496	HP:0001583	Rotary nystagmus	3	NPHP4 CL E G H	261734	19104	OMIM:606996	Senior-Loken syndrome 4	.		220
HP:0000496	HP:0020045	Esodeviation	3	NR2F1 CL E G H	7025	7975	ORPHA:401777	Optic atrophy-intellectual disability syndrome			37
HP:0000496	HP:0020049	Exodeviation	3	NR2F1 CL E G H	7025	7975	ORPHA:401777	Optic atrophy-intellectual disability syndrome			37
HP:0000496	HP:0032012	Heterotropia	3	NR2F1 CL E G H	7025	7975	ORPHA:401777	Optic atrophy-intellectual disability syndrome			37
HP:0000496	HP:0000666	Horizontal nystagmus	3	NR4A2 CL E G H	4929	7981	ORPHA:98808	Autosomal dominant dopa-responsive dystonia	HP:0040283 - Occasional		27
HP:0000496	HP:0020045	Esodeviation	3	NSD1 CL E G H	64324	14234	OMIM:117550	Sotos syndrome 1			544
HP:0000496	HP:0032012	Heterotropia	3	NSD1 CL E G H	64324	14234	OMIM:117550	Sotos syndrome 1			544
HP:0000496	HP:0000666	Horizontal nystagmus	3	NSUN2 CL E G H	54888	25994	OMIM:611091	Mental retardation, autosomal recessive 5			84
HP:0000496	HP:0000544	External ophthalmoplegia	3	NSUN3 CL E G H	63899	26208	OMIM:619012	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 48; COXPD48
HP:0000496	HP:0012043	Pendular nystagmus	3	NT5C2 CL E G H	22978	8022	ORPHA:320396	Autosomal recessive spastic paraplegia type 45	HP:0040282 - Frequent		15
HP:0000496	HP:0020045	Esodeviation	3	NTNG2 CL E G H	84628	14288	OMIM:618718	NEURODEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES, ABSENT SPEECH, AND HYPOTONIA; NEDBASH
HP:0000496	HP:0032012	Heterotropia	3	NTNG2 CL E G H	84628	14288	OMIM:618718	NEURODEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES, ABSENT SPEECH, AND HYPOTONIA; NEDBASH
HP:0000496	HP:0000666	Horizontal nystagmus	3	NUP62 CL E G H	23636	8066	ORPHA:225154	Familial infantile bilateral striatal necrosis			7
HP:0000496	HP:0006934	Congenital nystagmus	3	NUP62 CL E G H	23636	8066	ORPHA:225154	Familial infantile bilateral striatal necrosis			7
HP:0000496	HP:0012043	Pendular nystagmus	3	NUP62 CL E G H	23636	8066	ORPHA:225154	Familial infantile bilateral striatal necrosis			7
HP:0000496	HP:0012043	Pendular nystagmus	3	NUP62 CL E G H	23636	8066	OMIM:271930	Striatonigral degeneration, infantile	.		7
HP:0000496	HP:0000544	External ophthalmoplegia	3	NUTM2B-AS1 CL E G H	101060691	51204	OMIM:618637	OCULOPHARYNGEAL MYOPATHY WITH LEUKOENCEPHALOPATHY 1; OPML1
HP:0000496	HP:0020049	Exodeviation	3	OCA2 CL E G H	4948	8101	OMIM:203200	Albinism, oculocutaneous, type II			121
HP:0000496	HP:0032012	Heterotropia	3	OCA2 CL E G H	4948	8101	OMIM:203200	Albinism, oculocutaneous, type II			121
HP:0000496	HP:0020045	Esodeviation	3	OFD1 CL E G H	8481	2567	ORPHA:2754	Orofaciodigital syndrome type 6			201
HP:0000496	HP:0032012	Heterotropia	3	OFD1 CL E G H	8481	2567	ORPHA:2754	Orofaciodigital syndrome type 6			201
HP:0000496	HP:0000544	External ophthalmoplegia	3	OPA1 CL E G H	4976	8140	ORPHA:1215	Autosomal dominant optic atrophy plus syndrome			214
HP:0000496	HP:0025068	Incomitant strabismus	3	OPA1 CL E G H	4976	8140	ORPHA:98673	Autosomal dominant optic atrophy, classic form			214
HP:0000496	HP:0000544	External ophthalmoplegia	3	OPA1 CL E G H	4976	8140	OMIM:165500	Optic atrophy 1			214
HP:0000496	HP:0000666	Horizontal nystagmus	3	OPA1 CL E G H	4976	8140	OMIM:165500	Optic atrophy 1			214
HP:0000496	HP:0000666	Horizontal nystagmus	3	OPA1 CL E G H	4976	8140	OMIM:125250	Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy	.		214
HP:0000496	HP:0012043	Pendular nystagmus	3	OPN1LW CL E G H	5956	9936	OMIM:303700	Blue cone monochromacy	.		7
HP:0000496	HP:0012043	Pendular nystagmus	3	OPN1MW CL E G H	2652	4206	OMIM:303700	Blue cone monochromacy	.		5
HP:0000496	HP:0012043	Pendular nystagmus	3	OPN1SW CL E G H	611	1012	ORPHA:88629	Tritanopia	HP:0040283 - Occasional		3
HP:0000496	HP:0020045	Esodeviation	3	OVOL2 CL E G H	58495	15804	ORPHA:98973	Posterior polymorphous corneal dystrophy			4
HP:0000496	HP:0032012	Heterotropia	3	OVOL2 CL E G H	58495	15804	ORPHA:98973	Posterior polymorphous corneal dystrophy			4
HP:0000496	HP:0020049	Exodeviation	3	P4HTM CL E G H	54681	28858	OMIM:618493	Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities
HP:0000496	HP:0012043	Pendular nystagmus	3	P4HTM CL E G H	54681	28858	OMIM:618493	Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities
HP:0000496	HP:0032012	Heterotropia	3	P4HTM CL E G H	54681	28858	OMIM:618493	Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities
HP:0000496	HP:0020045	Esodeviation	3	PAK1 CL E G H	5058	8590	OMIM:618158	Intellectual developmental disorder with macrocephaly, seizures, and speech delay
HP:0000496	HP:0020049	Exodeviation	3	PAX6 CL E G H	5080	8620	OMIM:106210	Aniridia			194
HP:0000496	HP:0032012	Heterotropia	3	PAX6 CL E G H	5080	8620	OMIM:106210	Aniridia			194
HP:0000496	HP:0006934	Congenital nystagmus	3	PAX6 CL E G H	5080	8620	ORPHA:2334	Autosomal dominant keratitis	HP:0040283 - Occasional		194
HP:0000496	HP:0006934	Congenital nystagmus	3	PAX6 CL E G H	5080	8620	OMIM:136520	Foveal hypoplasia and presenile cataract syndromefoveal hypoplasia, isolated, included	.		194
HP:0000496	HP:0000640	Gaze-evoked nystagmus	3	PAX7 CL E G H	5081	8621	OMIM:618578	MYOPATHY, CONGENITAL, PROGRESSIVE, WITH SCOLIOSIS; MYOSCO
HP:0000496	HP:0000666	Horizontal nystagmus	3	PAX7 CL E G H	5081	8621	OMIM:618578	MYOPATHY, CONGENITAL, PROGRESSIVE, WITH SCOLIOSIS; MYOSCO
HP:0000496	HP:0020045	Esodeviation	3	PCDHGC4 CL E G H	56098	8717	OMIM:619880
HP:0000496	HP:0020049	Exodeviation	3	PCDHGC4 CL E G H	56098	8717	OMIM:619880
HP:0000496	HP:0032012	Heterotropia	3	PCDHGC4 CL E G H	56098	8717	OMIM:619880
HP:0000496	HP:0020045	Esodeviation	3	PDE4D CL E G H	5144	8783	ORPHA:439822	PDE4D haploinsufficiency syndrome			113
HP:0000496	HP:0032012	Heterotropia	3	PDE4D CL E G H	5144	8783	ORPHA:439822	PDE4D haploinsufficiency syndrome			113
HP:0000496	HP:0012043	Pendular nystagmus	3	PDE6C CL E G H	5146	8787	ORPHA:49382	Achromatopsia	HP:0040281 - Very frequent		80
HP:0000496	HP:0020045	Esodeviation	3	PDE6D CL E G H	5147	8788	ORPHA:2754	Orofaciodigital syndrome type 6			1
HP:0000496	HP:0032012	Heterotropia	3	PDE6D CL E G H	5147	8788	ORPHA:2754	Orofaciodigital syndrome type 6			1
HP:0000496	HP:0012043	Pendular nystagmus	3	PDE6H CL E G H	5149	8790	ORPHA:49382	Achromatopsia	HP:0040281 - Very frequent		14
HP:0000496	HP:0000666	Horizontal nystagmus	3	PDGFRB CL E G H	5159	8804	OMIM:615007	Basal ganglia calcification, idiopathic, 4			28
HP:0000496	HP:0000666	Horizontal nystagmus	3	PET100 CL E G H	100131801	40038	OMIM:619055	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 12; MC4DN12			6
HP:0000496	HP:0010544	Vertical nystagmus	3	PET100 CL E G H	100131801	40038	OMIM:619055	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 12; MC4DN12			6
HP:0000496	HP:0000666	Horizontal nystagmus	3	PEX16 CL E G H	9409	8857	OMIM:614877	Peroxisome biogenesis disorder 8B			59
HP:0000496	HP:0020045	Esodeviation	3	PEX5 CL E G H	5830	9719	OMIM:202370	Peroxisome biogenesis disorder 2B			99
HP:0000496	HP:0032012	Heterotropia	3	PEX5 CL E G H	5830	9719	OMIM:202370	Peroxisome biogenesis disorder 2B			99
HP:0000496	HP:0000666	Horizontal nystagmus	3	PEX5 CL E G H	5830	9719	OMIM:616716	RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5; RCDP5			99
HP:0000496	HP:0010544	Vertical nystagmus	3	PEX5 CL E G H	5830	9719	OMIM:616716	RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5; RCDP5			99
HP:0000496	HP:0006934	Congenital nystagmus	3	PGAP1 CL E G H	80055	25712	OMIM:615802	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42; MRT42			20
HP:0000496	HP:0030691	Divergence nystagmus	3	PGAP1 CL E G H	80055	25712	OMIM:615802	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42; MRT42			20
HP:0000496	HP:0020045	Esodeviation	3	PGAP2 CL E G H	27315	17893	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			8
HP:0000496	HP:0032012	Heterotropia	3	PGAP2 CL E G H	27315	17893	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			8
HP:0000496	HP:0020045	Esodeviation	3	PGAP3 CL E G H	93210	23719	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			20
HP:0000496	HP:0032012	Heterotropia	3	PGAP3 CL E G H	93210	23719	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			20
HP:0000496	HP:0020045	Esodeviation	3	PHGDH CL E G H	26227	8923	ORPHA:79351	3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form			37
HP:0000496	HP:0032012	Heterotropia	3	PHGDH CL E G H	26227	8923	ORPHA:79351	3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form			37
HP:0000496	HP:0000544	External ophthalmoplegia	3	PHOX2A CL E G H	401	691	OMIM:602078	Fibrosis of extraocular muscles, congenital, 2			6
HP:0000496	HP:0020049	Exodeviation	3	PHOX2A CL E G H	401	691	OMIM:602078	Fibrosis of extraocular muscles, congenital, 2			6
HP:0000496	HP:0025587	Hyperdeviation	3	PHOX2A CL E G H	401	691	OMIM:602078	Fibrosis of extraocular muscles, congenital, 2			6
HP:0000496	HP:0025588	Hypodeviation	3	PHOX2A CL E G H	401	691	OMIM:602078	Fibrosis of extraocular muscles, congenital, 2			6
HP:0000496	HP:0032012	Heterotropia	3	PHOX2A CL E G H	401	691	OMIM:602078	Fibrosis of extraocular muscles, congenital, 2			6
HP:0000496	HP:0020045	Esodeviation	3	PI4KA CL E G H	5297	8983	OMIM:619708	GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 2; GIDID2			11
HP:0000496	HP:0020045	Esodeviation	3	PIDD1 CL E G H	55367	16491	OMIM:619827	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 75, WITH NEUROPSYCHIATRIC FEATURES AND VARIANT LISSENCEPHALY; MRT75
HP:0000496	HP:0032012	Heterotropia	3	PIDD1 CL E G H	55367	16491	OMIM:619827	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 75, WITH NEUROPSYCHIATRIC FEATURES AND VARIANT LISSENCEPHALY; MRT75
HP:0000496	HP:0025068	Incomitant strabismus	3	PIEZO2 CL E G H	63895	26270	OMIM:108145	Arthrogryposis, distal, type 5			77
HP:0000496	HP:0020045	Esodeviation	3	PIGL CL E G H	9487	8966	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			36
HP:0000496	HP:0032012	Heterotropia	3	PIGL CL E G H	9487	8966	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			36
HP:0000496	HP:0020045	Esodeviation	3	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome			37
HP:0000496	HP:0010544	Vertical nystagmus	3	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome	HP:0040283 - Occasional		37
HP:0000496	HP:0032012	Heterotropia	3	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome			37
HP:0000496	HP:0020045	Esodeviation	3	PIGO CL E G H	84720	23215	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			84
HP:0000496	HP:0032012	Heterotropia	3	PIGO CL E G H	84720	23215	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			84
HP:0000496	HP:0010544	Vertical nystagmus	3	PIGQ CL E G H	9091	14135	OMIM:618548	MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 4; MCAHS4			3
HP:0000496	HP:0000511	Vertical supranuclear gaze palsy	3	PIGT CL E G H	51604	14938	ORPHA:369837	Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome			12
HP:0000496	HP:0020045	Esodeviation	3	PIGT CL E G H	51604	14938	OMIM:615398	Multiple congenital anomalies-hypotonia-seizures syndrome 3			12
HP:0000496	HP:0032012	Heterotropia	3	PIGT CL E G H	51604	14938	OMIM:615398	Multiple congenital anomalies-hypotonia-seizures syndrome 3			12
HP:0000496	HP:0020045	Esodeviation	3	PIGV CL E G H	55650	26031	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			57
HP:0000496	HP:0032012	Heterotropia	3	PIGV CL E G H	55650	26031	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			57
HP:0000496	HP:0020045	Esodeviation	3	PIGW CL E G H	284098	23213	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			6
HP:0000496	HP:0032012	Heterotropia	3	PIGW CL E G H	284098	23213	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			6
HP:0000496	HP:0020045	Esodeviation	3	PIGY CL E G H	84992	28213	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			2
HP:0000496	HP:0032012	Heterotropia	3	PIGY CL E G H	84992	28213	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			2
HP:0000496	HP:0000640	Gaze-evoked nystagmus	3	PIK3R5 CL E G H	23533	30035	ORPHA:64753	Spinocerebellar ataxia with axonal neuropathy type 2	HP:0040282 - Frequent		11
HP:0000496	HP:0000511	Vertical supranuclear gaze palsy	3	PLA2G6 CL E G H	8398	9039	ORPHA:35069	Infantile neuroaxonal dystrophy			133
HP:0000496	HP:0010544	Vertical nystagmus	3	PLA2G6 CL E G H	8398	9039	ORPHA:35069	Infantile neuroaxonal dystrophy			133
HP:0000496	HP:0012043	Pendular nystagmus	3	PLA2G6 CL E G H	8398	9039	ORPHA:35069	Infantile neuroaxonal dystrophy	HP:0040283 - Occasional		133
HP:0000496	HP:0000511	Vertical supranuclear gaze palsy	3	PLA2G6 CL E G H	8398	9039	OMIM:612953	Parkinson disease 14, autosomal recessive			133
HP:0000496	HP:0031833	Hypometric upward saccades	3	PLA2G6 CL E G H	8398	9039	OMIM:612953	Parkinson disease 14, autosomal recessive			133
HP:0000496	HP:0000511	Vertical supranuclear gaze palsy	3	PLP1 CL E G H	5354	9086	OMIM:312080	Pelizaeus-Merzbacher disease			60
HP:0000496	HP:0001583	Rotary nystagmus	3	PLP1 CL E G H	5354	9086	OMIM:312080	Pelizaeus-Merzbacher disease	.		60
HP:0000496	HP:0000666	Horizontal nystagmus	3	PLP1 CL E G H	5354	9086	ORPHA:280229	Pelizaeus-Merzbacher disease in female carriers	HP:0040283 - Occasional		60
HP:0000496	HP:0012043	Pendular nystagmus	3	PLP1 CL E G H	5354	9086	ORPHA:280210	Pelizaeus-Merzbacher disease, connatal form	HP:0040282 - Frequent		60
HP:0000496	HP:0020045	Esodeviation	3	PLPBP CL E G H	11212	9457	OMIM:617290	Epilepsy, early-onset, vitamin b6-dependent			6
HP:0000496	HP:0020045	Esodeviation	3	PMM2 CL E G H	5373	9115	OMIM:212065	Congenital disorder of glycosylation, type Ia			150
HP:0000496	HP:0032012	Heterotropia	3	PMM2 CL E G H	5373	9115	OMIM:212065	Congenital disorder of glycosylation, type Ia			150
HP:0000496	HP:0020045	Esodeviation	3	PMM2 CL E G H	5373	9115	ORPHA:79318	PMM2-CDG			150
HP:0000496	HP:0032012	Heterotropia	3	PMM2 CL E G H	5373	9115	ORPHA:79318	PMM2-CDG			150
HP:0000496	HP:0000640	Gaze-evoked nystagmus	3	PMPCA CL E G H	23203	18667	ORPHA:1170	Autosomal recessive cerebelloparenchymal disorder type 3	HP:0040281 - Very frequent		7
HP:0000496	HP:0001583	Rotary nystagmus	3	PNPO CL E G H	55163	30260	OMIM:610090	Pyridoxamine 5-prime-phosphate oxidase deficiency			92
HP:0000496	HP:0020049	Exodeviation	3	POGZ CL E G H	23126	18801	OMIM:616364	White-Sutton syndrome			35
HP:0000496	HP:0032012	Heterotropia	3	POGZ CL E G H	23126	18801	OMIM:616364	White-Sutton syndrome			35
HP:0000496	HP:0020045	Esodeviation	3	POLA1 CL E G H	5422	9173	OMIM:301030	Van esch-o'driscoll syndrome			2
HP:0000496	HP:0032012	Heterotropia	3	POLA1 CL E G H	5422	9173	OMIM:301030	Van esch-o'driscoll syndrome			2
HP:0000496	HP:0000544	External ophthalmoplegia	3	POLG CL E G H	5428	9179	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040281 - Very frequent		464
HP:0000496	HP:0000544	External ophthalmoplegia	3	POLG CL E G H	5428	9179	ORPHA:254886	Autosomal recessive progressive external ophthalmoplegia	HP:0040282 - Frequent		464
HP:0000496	HP:0000544	External ophthalmoplegia	3	POLG CL E G H	5428	9179	OMIM:603041	Mitochondrial DNA depletion syndrome 1 (mngie type)			464
HP:0000496	HP:0000544	External ophthalmoplegia	3	POLG CL E G H	5428	9179	OMIM:613662	Mitochondrial DNA depletion syndrome 4B (mngie type)			464
HP:0000496	HP:0000544	External ophthalmoplegia	3	POLG CL E G H	5428	9179	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy	HP:0040281 - Very frequent		464
HP:0000496	HP:0000544	External ophthalmoplegia	3	POLG CL E G H	5428	9179	OMIM:157640	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1			464
HP:0000496	HP:0007824	Total ophthalmoplegia	3	POLG CL E G H	5428	9179	OMIM:157640	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1			464
HP:0000496	HP:0000544	External ophthalmoplegia	3	POLG CL E G H	5428	9179	OMIM:258450	Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive			464
HP:0000496	HP:0020045	Esodeviation	3	POLG CL E G H	5428	9179	OMIM:258450	Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive			464
HP:0000496	HP:0032012	Heterotropia	3	POLG CL E G H	5428	9179	OMIM:258450	Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive			464
HP:0000496	HP:0000544	External ophthalmoplegia	3	POLG CL E G H	5428	9179	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis			464
HP:0000496	HP:0000511	Vertical supranuclear gaze palsy	3	POLG CL E G H	5428	9179	ORPHA:70595	Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome			464
HP:0000496	HP:0000544	External ophthalmoplegia	3	POLG2 CL E G H	11232	9180	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040281 - Very frequent		45
HP:0000496	HP:0000544	External ophthalmoplegia	3	POLG2 CL E G H	11232	9180	OMIM:610131	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4			45
HP:0000496	HP:0000511	Vertical supranuclear gaze palsy	3	POLR3A CL E G H	11128	30074	OMIM:607694	Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism			138
HP:0000496	HP:0000640	Gaze-evoked nystagmus	3	POLR3A CL E G H	11128	30074	OMIM:607694	Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism			138
HP:0000496	HP:0000511	Vertical supranuclear gaze palsy	3	POLR3A CL E G H	11128	30074	ORPHA:447896	Tremor-ataxia-central hypomyelination syndrome	HP:0040282 - Frequent		138
HP:0000496	HP:0000511	Vertical supranuclear gaze palsy	3	POLR3B CL E G H	55703	30348	OMIM:607694	Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism			67
HP:0000496	HP:0000640	Gaze-evoked nystagmus	3	POLR3B CL E G H	55703	30348	OMIM:607694	Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism			67
HP:0000496	HP:0000666	Horizontal nystagmus	3	POLR3B CL E G H	55703	30348	OMIM:614381	Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism	.		67
HP:0000496	HP:0001151	Impaired horizontal smooth pursuit	3	POLR3B CL E G H	55703	30348	OMIM:614381	Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism	.		67
HP:0000496	HP:0000544	External ophthalmoplegia	3	POLRMT CL E G H	5442	9200	OMIM:619743	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55; COXPD55			1
HP:0000496	HP:0020049	Exodeviation	3	POLRMT CL E G H	5442	9200	OMIM:619743	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55; COXPD55			1
HP:0000496	HP:0032012	Heterotropia	3	POLRMT CL E G H	5442	9200	OMIM:619743	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55; COXPD55			1
HP:0000496	HP:0020045	Esodeviation	3	POU4F1 CL E G H	5457	9218	OMIM:619352	ATAXIA, INTENTION TREMOR, AND HYPOTONIA SYNDROME, CHILDHOOD-ONSET; ATITHS
HP:0000496	HP:0032012	Heterotropia	3	POU4F1 CL E G H	5457	9218	OMIM:619352	ATAXIA, INTENTION TREMOR, AND HYPOTONIA SYNDROME, CHILDHOOD-ONSET; ATITHS
HP:0000496	HP:0001583	Rotary nystagmus	3	PPP1R21 CL E G H	129285	30595	OMIM:619383	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES; NEDHFBA
HP:0000496	HP:0020045	Esodeviation	3	PPP1R21 CL E G H	129285	30595	OMIM:619383	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES; NEDHFBA
HP:0000496	HP:0032012	Heterotropia	3	PPP1R21 CL E G H	129285	30595	OMIM:619383	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES; NEDHFBA
HP:0000496	HP:0001583	Rotary nystagmus	3	PPP2R5D CL E G H	5528	9312	ORPHA:457279	Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome	HP:0040284 - Very rare		10
HP:0000496	HP:0020045	Esodeviation	3	PPP2R5D CL E G H	5528	9312	ORPHA:457279	Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome			10
HP:0000496	HP:0032012	Heterotropia	3	PPP2R5D CL E G H	5528	9312	ORPHA:457279	Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome			10
HP:0000496	HP:0000640	Gaze-evoked nystagmus	3	PRDX3 CL E G H	10935	9354	OMIM:619862
HP:0000496	HP:0020045	Esodeviation	3	PRKAR1B CL E G H	5575	9390	OMIM:619680	MARBACH-SCHAAF NEURODEVELOPMENTAL SYNDROME; MASNS			2
HP:0000496	HP:0032012	Heterotropia	3	PRKAR1B CL E G H	5575	9390	OMIM:619680	MARBACH-SCHAAF NEURODEVELOPMENTAL SYNDROME; MASNS			2
HP:0000496	HP:0000640	Gaze-evoked nystagmus	3	PRKCG CL E G H	5582	9402	ORPHA:98763	Spinocerebellar ataxia type 14	HP:0040283 - Occasional		83
HP:0000496	HP:0010542	Vestibular nystagmus	3	PRNP CL E G H	5621	9449	ORPHA:282166	Inherited Creutzfeldt-Jakob disease	HP:0040283 - Occasional		69
HP:0000496	HP:0020049	Exodeviation	3	PRPS1 CL E G H	5631	9462	ORPHA:423479	X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome			49
HP:0000496	HP:0032012	Heterotropia	3	PRPS1 CL E G H	5631	9462	ORPHA:423479	X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome			49
HP:0000496	HP:0020049	Exodeviation	3	PRR12 CL E G H	57479	29217	OMIM:619539	NEUROOCULAR SYNDROME; NOC			1
HP:0000496	HP:0032012	Heterotropia	3	PRR12 CL E G H	57479	29217	OMIM:619539	NEUROOCULAR SYNDROME; NOC			1
HP:0000496	HP:0000640	Gaze-evoked nystagmus	3	PRRT2 CL E G H	112476	30500	ORPHA:569	Familial or sporadic hemiplegic migraine			94
HP:0000496	HP:0000666	Horizontal nystagmus	3	PRRT2 CL E G H	112476	30500	ORPHA:569	Familial or sporadic hemiplegic migraine			94
HP:0000496	HP:0010544	Vertical nystagmus	3	PRRT2 CL E G H	112476	30500	ORPHA:569	Familial or sporadic hemiplegic migraine	HP:0040283 - Occasional		94
HP:0000496	HP:0012043	Pendular nystagmus	3	PRRT2 CL E G H	112476	30500	ORPHA:569	Familial or sporadic hemiplegic migraine			94
HP:0000496	HP:0000666	Horizontal nystagmus	3	PSAP CL E G H	5660	9498	OMIM:610539	Gaucher disease, atypical			81
HP:0000496	HP:0020045	Esodeviation	3	PTEN CL E G H	5728	9588	ORPHA:101070	Bilateral frontoparietal polymicrogyria			948
HP:0000496	HP:0032012	Heterotropia	3	PTEN CL E G H	5728	9588	ORPHA:101070	Bilateral frontoparietal polymicrogyria			948
HP:0000496	HP:0020049	Exodeviation	3	PTRH2 CL E G H	51651	24265	ORPHA:456312	Infantile multisystem neurologic-endocrine-pancreatic disease			6
HP:0000496	HP:0032012	Heterotropia	3	PTRH2 CL E G H	51651	24265	ORPHA:456312	Infantile multisystem neurologic-endocrine-pancreatic disease			6
HP:0000496	HP:0020049	Exodeviation	3	PTRH2 CL E G H	51651	24265	OMIM:616263	Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset			6
HP:0000496	HP:0032012	Heterotropia	3	PTRH2 CL E G H	51651	24265	OMIM:616263	Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset			6
HP:0000496	HP:0020049	Exodeviation	3	PUF60 CL E G H	22827	17042	ORPHA:508488	8q24.3 microdeletion syndrome			19
HP:0000496	HP:0032012	Heterotropia	3	PUF60 CL E G H	22827	17042	ORPHA:508488	8q24.3 microdeletion syndrome			19
HP:0000496	HP:0020045	Esodeviation	3	PUF60 CL E G H	22827	17042	ORPHA:508498	Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome			19
HP:0000496	HP:0032012	Heterotropia	3	PUF60 CL E G H	22827	17042	ORPHA:508498	Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome			19
HP:0000496	HP:0020045	Esodeviation	3	PURA CL E G H	5813	9701	OMIM:616158	Mental retardation, autosomal dominant 31			53
HP:0000496	HP:0032012	Heterotropia	3	PURA CL E G H	5813	9701	OMIM:616158	Mental retardation, autosomal dominant 31			53
HP:0000496	HP:0020045	Esodeviation	3	PUS7 CL E G H	54517	26033	OMIM:618342	Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature
HP:0000496	HP:0020045	Esodeviation	3	PWAR1 CL E G H	145624	30089	OMIM:176270	Prader-Willi syndrome
HP:0000496	HP:0032012	Heterotropia	3	PWAR1 CL E G H	145624	30089	OMIM:176270	Prader-Willi syndrome
HP:0000496	HP:0020045	Esodeviation	3	PWRN1 CL E G H	791114	33235	OMIM:176270	Prader-Willi syndrome
HP:0000496	HP:0032012	Heterotropia	3	PWRN1 CL E G H	791114	33235	OMIM:176270	Prader-Willi syndrome
HP:0000496	HP:0020045	Esodeviation	3	PYCR2 CL E G H	29920	30262	ORPHA:481152	PYCR2-related microcephaly-progressive leukoencephalopathy			11
HP:0000496	HP:0032012	Heterotropia	3	PYCR2 CL E G H	29920	30262	ORPHA:481152	PYCR2-related microcephaly-progressive leukoencephalopathy			11
HP:0000496	HP:0020049	Exodeviation	3	PYROXD1 CL E G H	79912	26162	OMIM:617258	MYOPATHY, MYOFIBRILLAR, 8; MFM8			5
HP:0000496	HP:0032012	Heterotropia	3	PYROXD1 CL E G H	79912	26162	OMIM:617258	MYOPATHY, MYOFIBRILLAR, 8; MFM8			5
HP:0000496	HP:0007179	Absent smooth pursuit	3	RARS1 CL E G H	5917	9870	ORPHA:438114	RARS-related autosomal recessive hypomyelinating leukodystrophy	HP:0040283 - Occasional
HP:0000496	HP:0000640	Gaze-evoked nystagmus	3	RBL2 CL E G H	5934	9894	OMIM:619690	BRUNET-WAGNER NEURODEVELOPMENTAL SYNDROME; BRUWAG
HP:0000496	HP:0000666	Horizontal nystagmus	3	RBL2 CL E G H	5934	9894	OMIM:619690	BRUNET-WAGNER NEURODEVELOPMENTAL SYNDROME; BRUWAG
HP:0000496	HP:0020045	Esodeviation	3	RERE CL E G H	473	9965	ORPHA:494344	RERE-related neurodevelopmental syndrome			16
HP:0000496	HP:0020049	Exodeviation	3	RERE CL E G H	473	9965	ORPHA:494344	RERE-related neurodevelopmental syndrome			16
HP:0000496	HP:0032012	Heterotropia	3	RERE CL E G H	473	9965	ORPHA:494344	RERE-related neurodevelopmental syndrome			16
HP:0000496	HP:0000640	Gaze-evoked nystagmus	3	RFC1 CL E G H	5981	9969	OMIM:614575	Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome	.
HP:0000496	HP:0001151	Impaired horizontal smooth pursuit	3	RFC1 CL E G H	5981	9969	OMIM:614575	Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome	.
HP:0000496	HP:0010544	Vertical nystagmus	3	RFC1 CL E G H	5981	9969	OMIM:614575	Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome
HP:0000496	HP:0001361	Nystagmus-induced head nodding	3	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0000496	HP:0000544	External ophthalmoplegia	3	RILPL1 CL E G H	353116	26814	OMIM:619790	OCULOPHARYNGODISTAL MYOPATHY 4; OPDM4
HP:0000496	HP:0000544	External ophthalmoplegia	3	RNASEH1 CL E G H	246243	18466	ORPHA:329336	Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy			3
HP:0000496	HP:0020045	Esodeviation	3	RNASEH1 CL E G H	246243	18466	ORPHA:329336	Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy			3
HP:0000496	HP:0032012	Heterotropia	3	RNASEH1 CL E G H	246243	18466	ORPHA:329336	Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy			3
HP:0000496	HP:0000544	External ophthalmoplegia	3	RNASEH1 CL E G H	246243	18466	OMIM:616479	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2	.		3
HP:0000496	HP:0020045	Esodeviation	3	RNF113A CL E G H	7737	12974	ORPHA:33364	Trichothiodystrophy			3
HP:0000496	HP:0032012	Heterotropia	3	RNF113A CL E G H	7737	12974	ORPHA:33364	Trichothiodystrophy			3
HP:0000496	HP:0020049	Exodeviation	3	RNF2 CL E G H	6045	10061	OMIM:619460	LUO-SCHOCH-YAMAMOTO SYNDROME; LUSYAM
HP:0000496	HP:0032012	Heterotropia	3	RNF2 CL E G H	6045	10061	OMIM:619460	LUO-SCHOCH-YAMAMOTO SYNDROME; LUSYAM
HP:0000496	HP:0020045	Esodeviation	3	ROBO3 CL E G H	64221	13433	OMIM:607313	Gaze palsy, familial horizontal, with progressive scoliosis, 1			90
HP:0000496	HP:0007650	Progressive ophthalmoplegia	3	ROBO3 CL E G H	64221	13433	OMIM:607313	Gaze palsy, familial horizontal, with progressive scoliosis, 1	.		90
HP:0000496	HP:0007817	Horizontal supranuclear gaze palsy	3	ROBO3 CL E G H	64221	13433	OMIM:607313	Gaze palsy, familial horizontal, with progressive scoliosis, 1	.		90
HP:0000496	HP:0032012	Heterotropia	3	ROBO3 CL E G H	64221	13433	OMIM:607313	Gaze palsy, familial horizontal, with progressive scoliosis, 1			90
HP:0000496	HP:0007817	Horizontal supranuclear gaze palsy	3	ROBO3 CL E G H	64221	13433	ORPHA:2744	Horizontal gaze palsy with progressive scoliosis	HP:0040281 - Very frequent		90
HP:0000496	HP:0020045	Esodeviation	3	RORA CL E G H	6095	10258	OMIM:618060	INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT EPILEPSY OR CEREBELLAR ATAXIA; IDDECA			1
HP:0000496	HP:0032012	Heterotropia	3	RORA CL E G H	6095	10258	OMIM:618060	INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT EPILEPSY OR CEREBELLAR ATAXIA; IDDECA			1
HP:0000496	HP:0020049	Exodeviation	3	RP1L1 CL E G H	94137	15946	OMIM:618826	RETINITIS PIGMENTOSA 88; RP88			284
HP:0000496	HP:0032012	Heterotropia	3	RP1L1 CL E G H	94137	15946	OMIM:618826	RETINITIS PIGMENTOSA 88; RP88			284
HP:0000496	HP:0020049	Exodeviation	3	RPE65 CL E G H	6121	10294	ORPHA:364055	Severe early-childhood-onset retinal dystrophy			129
HP:0000496	HP:0032012	Heterotropia	3	RPE65 CL E G H	6121	10294	ORPHA:364055	Severe early-childhood-onset retinal dystrophy			129
HP:0000496	HP:0012043	Pendular nystagmus	3	RPGR CL E G H	6103	10295	ORPHA:49382	Achromatopsia	HP:0040281 - Very frequent		200
HP:0000496	HP:0012043	Pendular nystagmus	3	RPGRIP1 CL E G H	57096	13436	OMIM:613826	Leber congenital amaurosis 6	.		109
HP:0000496	HP:0020049	Exodeviation	3	RPL10 CL E G H	6134	10298	ORPHA:459070	X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome			10
HP:0000496	HP:0032012	Heterotropia	3	RPL10 CL E G H	6134	10298	ORPHA:459070	X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome			10
HP:0000496	HP:0020045	Esodeviation	3	RRAS2 CL E G H	22800	17271	OMIM:618624	NOONAN SYNDROME 12; NS12			1
HP:0000496	HP:0032012	Heterotropia	3	RRAS2 CL E G H	22800	17271	OMIM:618624	NOONAN SYNDROME 12; NS12			1
HP:0000496	HP:0000544	External ophthalmoplegia	3	RRM2B CL E G H	50484	17296	ORPHA:329336	Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy			125
HP:0000496	HP:0020045	Esodeviation	3	RRM2B CL E G H	50484	17296	ORPHA:329336	Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy			125
HP:0000496	HP:0032012	Heterotropia	3	RRM2B CL E G H	50484	17296	ORPHA:329336	Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy			125
HP:0000496	HP:0000544	External ophthalmoplegia	3	RRM2B CL E G H	50484	17296	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040281 - Very frequent		125
HP:0000496	HP:0000544	External ophthalmoplegia	3	RRM2B CL E G H	50484	17296	ORPHA:480	Kearns-Sayre syndrome			125
HP:0000496	HP:0000544	External ophthalmoplegia	3	RRM2B CL E G H	50484	17296	OMIM:612075	Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy)	.		125
HP:0000496	HP:0000544	External ophthalmoplegia	3	RRM2B CL E G H	50484	17296	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy	HP:0040281 - Very frequent		125
HP:0000496	HP:0000544	External ophthalmoplegia	3	RRM2B CL E G H	50484	17296	OMIM:613077	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5			125
HP:0000496	HP:0020045	Esodeviation	3	RTL1 CL E G H	388015	14665	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion
HP:0000496	HP:0032012	Heterotropia	3	RTL1 CL E G H	388015	14665	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion
HP:0000496	HP:0000544	External ophthalmoplegia	3	RYR1 CL E G H	6261	10483	ORPHA:169189	Autosomal dominant centronuclear myopathy	HP:0040283 - Occasional		1200
HP:0000496	HP:0000544	External ophthalmoplegia	3	RYR1 CL E G H	6261	10483	ORPHA:98905	Congenital multicore myopathy with external ophthalmoplegia	HP:0040282 - Frequent		1200
HP:0000496	HP:0000544	External ophthalmoplegia	3	RYR1 CL E G H	6261	10483	OMIM:255320	Minicore myopathy with external ophthalmoplegia			1200
HP:0000496	HP:0000640	Gaze-evoked nystagmus	3	SACS CL E G H	26278	10519	ORPHA:98	Autosomal recessive spastic ataxia of Charlevoix-Saguenay			309
HP:0000496	HP:0000666	Horizontal nystagmus	3	SACS CL E G H	26278	10519	ORPHA:98	Autosomal recessive spastic ataxia of Charlevoix-Saguenay			309
HP:0000496	HP:0025068	Incomitant strabismus	3	SALL1 CL E G H	6299	10524	OMIM:107480	Townes-Brocks syndrome 1			124
HP:0000496	HP:0020045	Esodeviation	3	SALL2 CL E G H	6297	10526	OMIM:216820	COLOBOMA, OCULAR, AUTOSOMAL RECESSIVE			1
HP:0000496	HP:0020049	Exodeviation	3	SALL2 CL E G H	6297	10526	OMIM:216820	COLOBOMA, OCULAR, AUTOSOMAL RECESSIVE			1
HP:0000496	HP:0025587	Hyperdeviation	3	SALL2 CL E G H	6297	10526	OMIM:216820	COLOBOMA, OCULAR, AUTOSOMAL RECESSIVE			1
HP:0000496	HP:0032012	Heterotropia	3	SALL2 CL E G H	6297	10526	OMIM:216820	COLOBOMA, OCULAR, AUTOSOMAL RECESSIVE			1
HP:0000496	HP:0025068	Incomitant strabismus	3	SALL4 CL E G H	57167	15924	OMIM:607323	Duane-Radial ray syndrome			86
HP:0000496	HP:0000544	External ophthalmoplegia	3	SALL4 CL E G H	57167	15924	OMIM:147750	Ivic syndrome	.		86
HP:0000496	HP:0000640	Gaze-evoked nystagmus	3	SAMD9L CL E G H	219285	1349	OMIM:619806	SPINOCEREBELLAR ATAXIA 49; SCA49			4
HP:0000496	HP:0020045	Esodeviation	3	SATB2 CL E G H	23314	21637	ORPHA:251028	SATB2-associated syndrome due to a chromosomal rearrangement	HP:0040283 - Occasional		34
HP:0000496	HP:0012043	Pendular nystagmus	3	SCN1A CL E G H	6323	10585	OMIM:619317	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 6B; DEE6B			1053
HP:0000496	HP:0000640	Gaze-evoked nystagmus	3	SCN1A CL E G H	6323	10585	ORPHA:569	Familial or sporadic hemiplegic migraine			1053
HP:0000496	HP:0000666	Horizontal nystagmus	3	SCN1A CL E G H	6323	10585	ORPHA:569	Familial or sporadic hemiplegic migraine			1053
HP:0000496	HP:0010544	Vertical nystagmus	3	SCN1A CL E G H	6323	10585	ORPHA:569	Familial or sporadic hemiplegic migraine	HP:0040283 - Occasional		1053
HP:0000496	HP:0012043	Pendular nystagmus	3	SCN1A CL E G H	6323	10585	ORPHA:569	Familial or sporadic hemiplegic migraine			1053
HP:0000496	HP:0000544	External ophthalmoplegia	3	SCN4A CL E G H	6329	10591	OMIM:614198	Myasthenic syndrome, congenital, 16	.		263
HP:0000496	HP:0000640	Gaze-evoked nystagmus	3	SCN8A CL E G H	6334	10596	OMIM:614306	Cognitive impairment with or without cerebellar ataxia	HP:0040283 - Occasional		357
HP:0000496	HP:0020045	Esodeviation	3	SCN8A CL E G H	6334	10596	OMIM:614306	Cognitive impairment with or without cerebellar ataxia			357
HP:0000496	HP:0032011	Heterophoria	3	SCN8A CL E G H	6334	10596	OMIM:614306	Cognitive impairment with or without cerebellar ataxia			357
HP:0000496	HP:0020049	Exodeviation	3	SCO2 CL E G H	9997	10604	ORPHA:521411	Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect			40
HP:0000496	HP:0032012	Heterotropia	3	SCO2 CL E G H	9997	10604	ORPHA:521411	Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect			40
HP:0000496	HP:0020049	Exodeviation	3	SCO2 CL E G H	9997	10604	OMIM:604377	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1			40
HP:0000496	HP:0032012	Heterotropia	3	SCO2 CL E G H	9997	10604	OMIM:604377	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1			40
HP:0000496	HP:0000544	External ophthalmoplegia	3	SDHA CL E G H	6389	10680	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040284 - Very rare		304
HP:0000496	HP:0000640	Gaze-evoked nystagmus	3	SDHA CL E G H	6389	10680	OMIM:619259	NEURODEGENERATION WITH ATAXIA AND LATE-ONSET OPTIC ATROPHY; NDAXOA			304
HP:0000496	HP:0000544	External ophthalmoplegia	3	SDHAF1 CL E G H	644096	33867	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040284 - Very rare		16
HP:0000496	HP:0000544	External ophthalmoplegia	3	SDHB CL E G H	6390	10681	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040284 - Very rare		237
HP:0000496	HP:0000544	External ophthalmoplegia	3	SDHD CL E G H	6392	10683	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040284 - Very rare		129
HP:0000496	HP:0012043	Pendular nystagmus	3	SDHD CL E G H	6392	10683	OMIM:619167	MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 3; MC2DN3			129
HP:0000496	HP:0020045	Esodeviation	3	SEC23A CL E G H	10484	10701	OMIM:607812	Craniolenticulosutural dysplasia			2
HP:0000496	HP:0032012	Heterotropia	3	SEC23A CL E G H	10484	10701	OMIM:607812	Craniolenticulosutural dysplasia			2
HP:0000496	HP:0000640	Gaze-evoked nystagmus	3	SETX CL E G H	23064	445	ORPHA:64753	Spinocerebellar ataxia with axonal neuropathy type 2	HP:0040282 - Frequent		162
HP:0000496	HP:0000640	Gaze-evoked nystagmus	3	SETX CL E G H	23064	445	OMIM:606002	Spinocerebellar ataxia, autosomal recessive 1	.		162
HP:0000496	HP:0020045	Esodeviation	3	SIAH1 CL E G H	6477	10857	OMIM:619314	BURATTI-HAREL SYNDROME; BURHAS
HP:0000496	HP:0020049	Exodeviation	3	SIAH1 CL E G H	6477	10857	OMIM:619314	BURATTI-HAREL SYNDROME; BURHAS
HP:0000496	HP:0032012	Heterotropia	3	SIAH1 CL E G H	6477	10857	OMIM:619314	BURATTI-HAREL SYNDROME; BURHAS
HP:0000496	HP:0000666	Horizontal nystagmus	3	SIX6 CL E G H	4990	10892	OMIM:212550	Optic disc anomalies with retinal and/or macular dystrophy	.		20
HP:0000496	HP:0020045	Esodeviation	3	SLC12A6 CL E G H	9990	10914	OMIM:218000	Agenesis of the corpus callosum with peripheral neuropathy			163
HP:0000496	HP:0032012	Heterotropia	3	SLC12A6 CL E G H	9990	10914	OMIM:218000	Agenesis of the corpus callosum with peripheral neuropathy			163
HP:0000496	HP:0001583	Rotary nystagmus	3	SLC16A2 CL E G H	6567	10923	OMIM:300523	Allan-Herndon-Dudley syndrome	HP:0040283 - Occasional		57
HP:0000496	HP:0020049	Exodeviation	3	SLC17A5 CL E G H	26503	10933	OMIM:604369	Salla disease			78
HP:0000496	HP:0032012	Heterotropia	3	SLC17A5 CL E G H	26503	10933	OMIM:604369	Salla disease			78
HP:0000496	HP:0020045	Esodeviation	3	SLC18A3 CL E G H	6572	10936	ORPHA:98914	Presynaptic congenital myasthenic syndromes			2
HP:0000496	HP:0032012	Heterotropia	3	SLC18A3 CL E G H	6572	10936	ORPHA:98914	Presynaptic congenital myasthenic syndromes			2
HP:0000496	HP:0000544	External ophthalmoplegia	3	SLC19A3 CL E G H	80704	16266	OMIM:607483	Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2)	.		110
HP:0000496	HP:0020045	Esodeviation	3	SLC1A3 CL E G H	6507	10941	ORPHA:2131	Alternating hemiplegia of childhood			63
HP:0000496	HP:0020049	Exodeviation	3	SLC1A3 CL E G H	6507	10941	ORPHA:2131	Alternating hemiplegia of childhood			63
HP:0000496	HP:0031931	Ocular flutter	3	SLC1A3 CL E G H	6507	10941	ORPHA:2131	Alternating hemiplegia of childhood	HP:0040283 - Occasional		63
HP:0000496	HP:0032012	Heterotropia	3	SLC1A3 CL E G H	6507	10941	ORPHA:2131	Alternating hemiplegia of childhood			63
HP:0000496	HP:0000640	Gaze-evoked nystagmus	3	SLC1A3 CL E G H	6507	10941	ORPHA:209967	Episodic ataxia type 6	HP:0040283 - Occasional		63
HP:0000496	HP:0020045	Esodeviation	3	SLC25A1 CL E G H	6576	10979	ORPHA:98914	Presynaptic congenital myasthenic syndromes			28
HP:0000496	HP:0032012	Heterotropia	3	SLC25A1 CL E G H	6576	10979	ORPHA:98914	Presynaptic congenital myasthenic syndromes			28
HP:0000496	HP:0000544	External ophthalmoplegia	3	SLC25A4 CL E G H	291	10990	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040281 - Very frequent		68
HP:0000496	HP:0000544	External ophthalmoplegia	3	SLC25A4 CL E G H	291	10990	OMIM:609283	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2			68
HP:0000496	HP:0020049	Exodeviation	3	SLC25A46 CL E G H	91137	25198	OMIM:616505	Neuropathy, hereditary motor and sensory, type VIB			14
HP:0000496	HP:0032012	Heterotropia	3	SLC25A46 CL E G H	91137	25198	OMIM:616505	Neuropathy, hereditary motor and sensory, type VIB			14
HP:0000496	HP:0020045	Esodeviation	3	SLC25A46 CL E G H	91137	25198	ORPHA:2254	Pontocerebellar hypoplasia type 1			14
HP:0000496	HP:0032012	Heterotropia	3	SLC25A46 CL E G H	91137	25198	ORPHA:2254	Pontocerebellar hypoplasia type 1			14
HP:0000496	HP:0031931	Ocular flutter	3	SLC35A2 CL E G H	7355	11022	OMIM:300896	Congenital disorder of glycosylation, type IIm	.		27
HP:0000496	HP:0020049	Exodeviation	3	SLC35A2 CL E G H	7355	11022	ORPHA:356961	SLC35A2-CDG			27
HP:0000496	HP:0032012	Heterotropia	3	SLC35A2 CL E G H	7355	11022	ORPHA:356961	SLC35A2-CDG			27
HP:0000496	HP:0020045	Esodeviation	3	SLC35C1 CL E G H	55343	20197	ORPHA:99843	Leukocyte adhesion deficiency type II	HP:0040283 - Occasional		71
HP:0000496	HP:0020045	Esodeviation	3	SLC38A8 CL E G H	146167	32434	OMIM:609218	Foveal hypoplasia 2			13
HP:0000496	HP:0032012	Heterotropia	3	SLC38A8 CL E G H	146167	32434	OMIM:609218	Foveal hypoplasia 2			13
HP:0000496	HP:0000544	External ophthalmoplegia	3	SLC52A3 CL E G H	113278	16187	OMIM:211530	Brown-Vialetto-Van laere syndrome 1	.		51
HP:0000496	HP:0020045	Esodeviation	3	SLC5A7 CL E G H	60482	14025	ORPHA:98914	Presynaptic congenital myasthenic syndromes			9
HP:0000496	HP:0032012	Heterotropia	3	SLC5A7 CL E G H	60482	14025	ORPHA:98914	Presynaptic congenital myasthenic syndromes			9
HP:0000496	HP:0031931	Ocular flutter	3	SLC6A3 CL E G H	6531	11049	OMIM:613135	Parkinsonism-Dystonia, infantile, 1	.		13
HP:0000496	HP:0020049	Exodeviation	3	SLC6A8 CL E G H	6535	11055	OMIM:300352	Creatine deficiency syndrome, X-linked			122
HP:0000496	HP:0032012	Heterotropia	3	SLC6A8 CL E G H	6535	11055	OMIM:300352	Creatine deficiency syndrome, X-linked			122
HP:0000496	HP:0020049	Exodeviation	3	SMAD3 CL E G H	4088	6769	OMIM:613795	LOEYS-DIETZ SYNDROME 3; LDS3			260
HP:0000496	HP:0032012	Heterotropia	3	SMAD3 CL E G H	4088	6769	OMIM:613795	LOEYS-DIETZ SYNDROME 3; LDS3			260
HP:0000496	HP:0020045	Esodeviation	3	SNAP25 CL E G H	6616	11132	ORPHA:98914	Presynaptic congenital myasthenic syndromes			2
HP:0000496	HP:0032012	Heterotropia	3	SNAP25 CL E G H	6616	11132	ORPHA:98914	Presynaptic congenital myasthenic syndromes			2
HP:0000496	HP:0000666	Horizontal nystagmus	3	SNIP1 CL E G H	79753	30587	OMIM:614501	Psychomotor retardation, epilepsy, and craniofacial dysmorphism	.		3
HP:0000496	HP:0020045	Esodeviation	3	SNORD115-1 CL E G H	338433	33020	OMIM:176270	Prader-Willi syndrome
HP:0000496	HP:0032012	Heterotropia	3	SNORD115-1 CL E G H	338433	33020	OMIM:176270	Prader-Willi syndrome
HP:0000496	HP:0020045	Esodeviation	3	SNORD116-1 CL E G H	100033413	33067	OMIM:176270	Prader-Willi syndrome
HP:0000496	HP:0032012	Heterotropia	3	SNORD116-1 CL E G H	100033413	33067	OMIM:176270	Prader-Willi syndrome
HP:0000496	HP:0020049	Exodeviation	3	SNRPN CL E G H	6638	11164	OMIM:105830	Angelman syndrome			37
HP:0000496	HP:0032012	Heterotropia	3	SNRPN CL E G H	6638	11164	OMIM:105830	Angelman syndrome			37
HP:0000496	HP:0010543	Opsoclonus	3	SNX10 CL E G H	29887	14974	ORPHA:667	Autosomal recessive malignant osteopetrosis	HP:0040281 - Very frequent		2
HP:0000496	HP:0020045	Esodeviation	3	SOBP CL E G H	55084	29256	OMIM:613671	Mental retardation, anterior maxillary protrusion, and strabismus			29
HP:0000496	HP:0032012	Heterotropia	3	SOBP CL E G H	55084	29256	OMIM:613671	Mental retardation, anterior maxillary protrusion, and strabismus			29
HP:0000496	HP:0020045	Esodeviation	3	SON CL E G H	6651	11183	ORPHA:500150	Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome			12
HP:0000496	HP:0020049	Exodeviation	3	SON CL E G H	6651	11183	ORPHA:500150	Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome			12
HP:0000496	HP:0032012	Heterotropia	3	SON CL E G H	6651	11183	ORPHA:500150	Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome			12
HP:0000496	HP:0020045	Esodeviation	3	SOST CL E G H	50964	13771	OMIM:269500	Sclerosteosis 1			26
HP:0000496	HP:0032012	Heterotropia	3	SOST CL E G H	50964	13771	OMIM:269500	Sclerosteosis 1			26
HP:0000496	HP:0000640	Gaze-evoked nystagmus	3	SOX3 CL E G H	6658	11199	ORPHA:67045	X-linked intellectual disability with isolated growth hormone deficiency			24
HP:0000496	HP:0000666	Horizontal nystagmus	3	SOX3 CL E G H	6658	11199	ORPHA:67045	X-linked intellectual disability with isolated growth hormone deficiency			24
HP:0000496	HP:0020049	Exodeviation	3	SOX5 CL E G H	6660	11201	ORPHA:313892	Developmental and speech delay due to SOX5 deficiency			11
HP:0000496	HP:0032012	Heterotropia	3	SOX5 CL E G H	6660	11201	ORPHA:313892	Developmental and speech delay due to SOX5 deficiency			11
HP:0000496	HP:0020049	Exodeviation	3	SPATA5 CL E G H	166378	18119	ORPHA:457351	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome	HP:0040284 - Very rare		19
HP:0000496	HP:0020049	Exodeviation	3	SPATA7 CL E G H	55812	20423	ORPHA:364055	Severe early-childhood-onset retinal dystrophy			48
HP:0000496	HP:0032012	Heterotropia	3	SPATA7 CL E G H	55812	20423	ORPHA:364055	Severe early-childhood-onset retinal dystrophy			48
HP:0000496	HP:0000640	Gaze-evoked nystagmus	3	SPG11 CL E G H	80208	11226	OMIM:604360	Spastic paraplegia 11, autosomal recessive	.		287
HP:0000496	HP:0000511	Vertical supranuclear gaze palsy	3	SPG7 CL E G H	6687	11237	OMIM:607259	Spastic paraplegia 7, autosomal recessive			171
HP:0000496	HP:0000666	Horizontal nystagmus	3	SPTBN2 CL E G H	6712	11276	ORPHA:352403	Spectrin-associated autosomal recessive cerebellar ataxia	HP:0040283 - Occasional		126
HP:0000496	HP:0000640	Gaze-evoked nystagmus	3	SPTBN2 CL E G H	6712	11276	OMIM:600224	Spinocerebellar ataxia 5	.		126
HP:0000496	HP:0000666	Horizontal nystagmus	3	SPTBN4 CL E G H	57731	14896	OMIM:617519	Neurodevelopmental disorder with hypotonia, neuropathy, and deafness			3
HP:0000496	HP:0000511	Vertical supranuclear gaze palsy	3	SQSTM1 CL E G H	8878	11280	OMIM:617145	Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset	.		62
HP:0000496	HP:0020045	Esodeviation	3	SREBF1 CL E G H	6720	11289	OMIM:158310	Mucoepithelial dysplasia, hereditary			1
HP:0000496	HP:0032012	Heterotropia	3	SREBF1 CL E G H	6720	11289	OMIM:158310	Mucoepithelial dysplasia, hereditary			1
HP:0000496	HP:0000544	External ophthalmoplegia	3	STIM1 CL E G H	6786	11386	OMIM:160565	Myopathy, tubular aggregate, 1	HP:0040283 - Occasional		31
HP:0000496	HP:0000640	Gaze-evoked nystagmus	3	STUB1 CL E G H	10273	11427	ORPHA:412057	Autosomal recessive cerebellar ataxia due to STUB1 deficiency	HP:0040283 - Occasional		14
HP:0000496	HP:0000666	Horizontal nystagmus	3	STUB1 CL E G H	10273	11427	ORPHA:412057	Autosomal recessive cerebellar ataxia due to STUB1 deficiency	HP:0040283 - Occasional		14
HP:0000496	HP:0000544	External ophthalmoplegia	3	STUB1 CL E G H	10273	11427	OMIM:615768	Spinocerebellar ataxia, autosomal recessive 16			14
HP:0000496	HP:0001361	Nystagmus-induced head nodding	3	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0000496	HP:0001151	Impaired horizontal smooth pursuit	3	STXBP1 CL E G H	6812	11444	OMIM:612164	Epileptic encephalopathy, early infantile, 4	.		237
HP:0000496	HP:0000666	Horizontal nystagmus	3	SURF1 CL E G H	6834	11474	OMIM:616684	Charcot-Marie-Tooth disease, type 4K			73
HP:0000496	HP:0025402	Square-wave jerks	3	SYNE1 CL E G H	23345	17089	ORPHA:88644	Autosomal recessive ataxia, Beauce type	HP:0040283 - Occasional		1129
HP:0000496	HP:0020045	Esodeviation	3	SYT1 CL E G H	6857	11509	ORPHA:522077	Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome			1
HP:0000496	HP:0032012	Heterotropia	3	SYT1 CL E G H	6857	11509	ORPHA:522077	Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome			1
HP:0000496	HP:0000640	Gaze-evoked nystagmus	3	SYT14 CL E G H	255928	23143	ORPHA:284271	Autosomal recessive cerebellar ataxia-psychomotor delay syndrome			4
HP:0000496	HP:0000666	Horizontal nystagmus	3	SYT14 CL E G H	255928	23143	ORPHA:284271	Autosomal recessive cerebellar ataxia-psychomotor delay syndrome			4
HP:0000496	HP:0020045	Esodeviation	3	SYT2 CL E G H	127833	11510	ORPHA:98914	Presynaptic congenital myasthenic syndromes			4
HP:0000496	HP:0032012	Heterotropia	3	SYT2 CL E G H	127833	11510	ORPHA:98914	Presynaptic congenital myasthenic syndromes			4
HP:0000496	HP:0000666	Horizontal nystagmus	3	TAF2 CL E G H	6873	11536	ORPHA:397951	Microcephaly-thin corpus callosum-intellectual disability syndrome	HP:0040283 - Occasional		7
HP:0000496	HP:0020049	Exodeviation	3	TAF2 CL E G H	6873	11536	ORPHA:397951	Microcephaly-thin corpus callosum-intellectual disability syndrome			7
HP:0000496	HP:0032012	Heterotropia	3	TAF2 CL E G H	6873	11536	ORPHA:397951	Microcephaly-thin corpus callosum-intellectual disability syndrome			7
HP:0000496	HP:0020045	Esodeviation	3	TARS1 CL E G H	6897	11572	ORPHA:33364	Trichothiodystrophy
HP:0000496	HP:0032012	Heterotropia	3	TARS1 CL E G H	6897	11572	ORPHA:33364	Trichothiodystrophy
HP:0000496	HP:0020045	Esodeviation	3	TBC1D23 CL E G H	55773	25622	OMIM:617695	Pontocerebellar hypoplasia, type 11
HP:0000496	HP:0032012	Heterotropia	3	TBC1D23 CL E G H	55773	25622	OMIM:617695	Pontocerebellar hypoplasia, type 11
HP:0000496	HP:0006934	Congenital nystagmus	3	TBC1D24 CL E G H	57465	29203	ORPHA:79500	DOORS syndrome	HP:0040284 - Very rare		271
HP:0000496	HP:0000666	Horizontal nystagmus	3	TBC1D24 CL E G H	57465	29203	OMIM:608105	Epilepsy, rolandic, with paroxysmal exercise-induced dystonia and writer's cramp	.		271
HP:0000496	HP:0000666	Horizontal nystagmus	3	TBC1D24 CL E G H	57465	29203	ORPHA:163727	Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome	HP:0040282 - Frequent		271
HP:0000496	HP:0020045	Esodeviation	3	TBC1D2B CL E G H	23102	29183	ORPHA:397973	Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome
HP:0000496	HP:0032012	Heterotropia	3	TBC1D2B CL E G H	23102	29183	ORPHA:397973	Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome
HP:0000496	HP:0007179	Absent smooth pursuit	3	TBCD CL E G H	6904	11581	ORPHA:496641	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome	HP:0040282 - Frequent		16
HP:0000496	HP:0007179	Absent smooth pursuit	3	TBCD CL E G H	6904	11581	OMIM:617193	ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM; PEBAT			16
HP:0000496	HP:0012043	Pendular nystagmus	3	TBL1XR1 CL E G H	79718	29529	ORPHA:487825	Pierpont syndrome	HP:0040283 - Occasional		22
HP:0000496	HP:0012043	Pendular nystagmus	3	TBL1XR1 CL E G H	79718	29529	OMIM:602342	Pierpont syndrome	.		22
HP:0000496	HP:0001361	Nystagmus-induced head nodding	3	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0000496	HP:0000640	Gaze-evoked nystagmus	3	TBP CL E G H	6908	11588	OMIM:607136	Spinocerebellar ataxia 17	.		7
HP:0000496	HP:0020045	Esodeviation	3	TBX1 CL E G H	6899	11592	OMIM:188400	Digeorge syndrome			32
HP:0000496	HP:0020049	Exodeviation	3	TBX1 CL E G H	6899	11592	OMIM:188400	Digeorge syndrome			32
HP:0000496	HP:0032011	Heterophoria	3	TBX1 CL E G H	6899	11592	OMIM:188400	Digeorge syndrome			32
HP:0000496	HP:0032012	Heterotropia	3	TBX1 CL E G H	6899	11592	OMIM:188400	Digeorge syndrome			32
HP:0000496	HP:0010543	Opsoclonus	3	TCIRG1 CL E G H	10312	11647	ORPHA:667	Autosomal recessive malignant osteopetrosis	HP:0040281 - Very frequent		82
HP:0000496	HP:0020045	Esodeviation	3	TCTN3 CL E G H	26123	24519	ORPHA:2754	Orofaciodigital syndrome type 6			31
HP:0000496	HP:0032012	Heterotropia	3	TCTN3 CL E G H	26123	24519	ORPHA:2754	Orofaciodigital syndrome type 6			31
HP:0000496	HP:0000640	Gaze-evoked nystagmus	3	TDP1 CL E G H	55775	18884	ORPHA:94124	Spinocerebellar ataxia with axonal neuropathy type 1	HP:0040282 - Frequent		52
HP:0000496	HP:0001583	Rotary nystagmus	3	TELO2 CL E G H	9894	29099	ORPHA:488642	TELO2-related intellectual disability-neurodevelopmental disorder	HP:0040283 - Occasional		12
HP:0000496	HP:0020045	Esodeviation	3	TELO2 CL E G H	9894	29099	ORPHA:488642	TELO2-related intellectual disability-neurodevelopmental disorder	HP:0040283 - Occasional		12
HP:0000496	HP:0020045	Esodeviation	3	TENM3 CL E G H	55714	29944	OMIM:615145	Microphthalmia, isolated, with coloboma 9			12
HP:0000496	HP:0012043	Pendular nystagmus	3	TENM3 CL E G H	55714	29944	OMIM:615145	Microphthalmia, isolated, with coloboma 9	.		12
HP:0000496	HP:0032012	Heterotropia	3	TENM3 CL E G H	55714	29944	OMIM:615145	Microphthalmia, isolated, with coloboma 9			12
HP:0000496	HP:0020049	Exodeviation	3	TGFBR1 CL E G H	7046	11772	OMIM:609192	Loeys-Dietz syndrome 1			239
HP:0000496	HP:0032012	Heterotropia	3	TGFBR1 CL E G H	7046	11772	OMIM:609192	Loeys-Dietz syndrome 1			239
HP:0000496	HP:0020049	Exodeviation	3	TGFBR2 CL E G H	7048	11773	OMIM:610168	Loeys-Dietz syndrome 2			253
HP:0000496	HP:0032012	Heterotropia	3	TGFBR2 CL E G H	7048	11773	OMIM:610168	Loeys-Dietz syndrome 2			253
HP:0000496	HP:0000640	Gaze-evoked nystagmus	3	THG1L CL E G H	54974	26053	OMIM:618800	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 28; SCAR28
HP:0000496	HP:0000666	Horizontal nystagmus	3	THG1L CL E G H	54974	26053	OMIM:618800	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 28; SCAR28
HP:0000496	HP:0020049	Exodeviation	3	THOC2 CL E G H	57187	19073	OMIM:300957	Mental retardation, X-linked 12/35			5
HP:0000496	HP:0032012	Heterotropia	3	THOC2 CL E G H	57187	19073	OMIM:300957	Mental retardation, X-linked 12/35			5
HP:0000496	HP:0000544	External ophthalmoplegia	3	TK2 CL E G H	7084	11831	ORPHA:254886	Autosomal recessive progressive external ophthalmoplegia	HP:0040282 - Frequent		103
HP:0000496	HP:0000544	External ophthalmoplegia	3	TK2 CL E G H	7084	11831	ORPHA:254875	Mitochondrial DNA depletion syndrome, myopathic form			103
HP:0000496	HP:0000544	External ophthalmoplegia	3	TK2 CL E G H	7084	11831	OMIM:617069	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3			103
HP:0000496	HP:0000640	Gaze-evoked nystagmus	3	TMEM106B CL E G H	54664	22407	OMIM:617964	Leukodystrophy, hypomyelinating, 16
HP:0000496	HP:0000666	Horizontal nystagmus	3	TMEM106B CL E G H	54664	22407	OMIM:617964	Leukodystrophy, hypomyelinating, 16
HP:0000496	HP:0001583	Rotary nystagmus	3	TMEM106B CL E G H	54664	22407	OMIM:617964	Leukodystrophy, hypomyelinating, 16
HP:0000496	HP:0006934	Congenital nystagmus	3	TMEM106B CL E G H	54664	22407	OMIM:617964	Leukodystrophy, hypomyelinating, 16
HP:0000496	HP:0010544	Vertical nystagmus	3	TMEM106B CL E G H	54664	22407	OMIM:617964	Leukodystrophy, hypomyelinating, 16
HP:0000496	HP:0012043	Pendular nystagmus	3	TMEM106B CL E G H	54664	22407	OMIM:617964	Leukodystrophy, hypomyelinating, 16
HP:0000496	HP:0000666	Horizontal nystagmus	3	TMEM126A CL E G H	84233	25382	OMIM:612989	Optic atrophy 7 with or without auditory neuropathy	HP:0040283 - Occasional		23
HP:0000496	HP:0001583	Rotary nystagmus	3	TMEM216 CL E G H	51259	25018	OMIM:608091	Joubert syndrome 2			45
HP:0000496	HP:0020045	Esodeviation	3	TMEM216 CL E G H	51259	25018	OMIM:608091	Joubert syndrome 2			45
HP:0000496	HP:0032012	Heterotropia	3	TMEM216 CL E G H	51259	25018	OMIM:608091	Joubert syndrome 2			45
HP:0000496	HP:0020045	Esodeviation	3	TMEM216 CL E G H	51259	25018	ORPHA:2754	Orofaciodigital syndrome type 6			45
HP:0000496	HP:0032012	Heterotropia	3	TMEM216 CL E G H	51259	25018	ORPHA:2754	Orofaciodigital syndrome type 6			45
HP:0000496	HP:0020045	Esodeviation	3	TMEM222 CL E G H	84065	25363	OMIM:619470	NEURODEVELOPMENTAL DISORDER WITH MOTOR AND SPEECH DELAY AND BEHAVIORAL ABNORMALITIES; NEDMOSBA
HP:0000496	HP:0020049	Exodeviation	3	TMEM231 CL E G H	79583	37234	ORPHA:2752	Orofaciodigital syndrome type 3			33
HP:0000496	HP:0012043	Pendular nystagmus	3	TMEM231 CL E G H	79583	37234	ORPHA:2752	Orofaciodigital syndrome type 3			33
HP:0000496	HP:0032012	Heterotropia	3	TMEM231 CL E G H	79583	37234	ORPHA:2752	Orofaciodigital syndrome type 3			33
HP:0000496	HP:0007792	Microsaccadic pursuit	3	TMEM240 CL E G H	339453	25186	OMIM:607454	Spinocerebellar ataxia 21	.		9
HP:0000496	HP:0010543	Opsoclonus	3	TMEM240 CL E G H	339453	25186	OMIM:607454	Spinocerebellar ataxia 21			9
HP:0000496	HP:0007944	Intermittent microsaccadic pursuits	3	TMEM240 CL E G H	339453	25186	ORPHA:98773	Spinocerebellar ataxia type 21	HP:0040281 - Very frequent		9
HP:0000496	HP:0001361	Nystagmus-induced head nodding	3	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0000496	HP:0012043	Pendular nystagmus	3	TMEM63A CL E G H	9725	29118	OMIM:618688	LEUKODYSTROPHY, HYPOMYELINATING, 19, TRANSIENT INFANTILE; HLD19
HP:0000496	HP:0020049	Exodeviation	3	TMEM67 CL E G H	91147	28396	OMIM:602152	Rhyns syndrome			166
HP:0000496	HP:0032012	Heterotropia	3	TMEM67 CL E G H	91147	28396	OMIM:602152	Rhyns syndrome			166
HP:0000496	HP:0010543	Opsoclonus	3	TNFSF11 CL E G H	8600	11926	ORPHA:667	Autosomal recessive malignant osteopetrosis	HP:0040281 - Very frequent		44
HP:0000496	HP:0000544	External ophthalmoplegia	3	TOP3A CL E G H	7156	11992	OMIM:618098	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5
HP:0000496	HP:0020045	Esodeviation	3	TOPORS CL E G H	10210	21653	ORPHA:2754	Orofaciodigital syndrome type 6			61
HP:0000496	HP:0032012	Heterotropia	3	TOPORS CL E G H	10210	21653	ORPHA:2754	Orofaciodigital syndrome type 6			61
HP:0000496	HP:0000666	Horizontal nystagmus	3	TPP1 CL E G H	1200	2073	ORPHA:284324	Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia	HP:0040282 - Frequent		203
HP:0000496	HP:0020049	Exodeviation	3	TRAPPC11 CL E G H	60684	25751	ORPHA:369840	TRAPPC11-related limb-girdle muscular dystrophy R18			27
HP:0000496	HP:0032011	Heterophoria	3	TRAPPC11 CL E G H	60684	25751	ORPHA:369840	TRAPPC11-related limb-girdle muscular dystrophy R18			27
HP:0000496	HP:0000666	Horizontal nystagmus	3	TRAPPC6B CL E G H	122553	23066	OMIM:617862	Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy
HP:0000496	HP:0020045	Esodeviation	3	TRIT1 CL E G H	54802	20286	OMIM:617873	Combined oxidative phosphorylation deficiency 35			12
HP:0000496	HP:0032012	Heterotropia	3	TRIT1 CL E G H	54802	20286	OMIM:617873	Combined oxidative phosphorylation deficiency 35			12
HP:0000496	HP:0000544	External ophthalmoplegia	3	TRNE CL E G H	4556	7479	ORPHA:225	Maternally-inherited diabetes and deafness	HP:0040282 - Frequent
HP:0000496	HP:0000544	External ophthalmoplegia	3	TRNF CL E G H	4558	7481	ORPHA:550	MELAS
HP:0000496	HP:0000544	External ophthalmoplegia	3	TRNH CL E G H	4564	7487	ORPHA:550	MELAS
HP:0000496	HP:0000544	External ophthalmoplegia	3	TRNK CL E G H	4566	7489	ORPHA:225	Maternally-inherited diabetes and deafness	HP:0040282 - Frequent
HP:0000496	HP:0000544	External ophthalmoplegia	3	TRNK CL E G H	4566	7489	ORPHA:1349	Mitochondrial DNA-related cardiomyopathy and hearing loss
HP:0000496	HP:0000544	External ophthalmoplegia	3	TRNL1 CL E G H	4567	7490	ORPHA:480	Kearns-Sayre syndrome
HP:0000496	HP:0000544	External ophthalmoplegia	3	TRNL1 CL E G H	4567	7490	ORPHA:225	Maternally-inherited diabetes and deafness	HP:0040282 - Frequent
HP:0000496	HP:0000544	External ophthalmoplegia	3	TRNL1 CL E G H	4567	7490	ORPHA:550	MELAS
HP:0000496	HP:0000544	External ophthalmoplegia	3	TRNL1 CL E G H	4567	7490	ORPHA:663	Mitochondrial DNA-related progressive external ophthalmoplegia
HP:0000496	HP:0000544	External ophthalmoplegia	3	TRNL2 CL E G H	4568	7491	ORPHA:663	Mitochondrial DNA-related progressive external ophthalmoplegia
HP:0000496	HP:0000544	External ophthalmoplegia	3	TRNN CL E G H	4570	7493	ORPHA:663	Mitochondrial DNA-related progressive external ophthalmoplegia
HP:0000496	HP:0000544	External ophthalmoplegia	3	TRNQ CL E G H	4572	7495	ORPHA:550	MELAS
HP:0000496	HP:0000544	External ophthalmoplegia	3	TRNS1 CL E G H	4574	7497	ORPHA:550	MELAS
HP:0000496	HP:0000544	External ophthalmoplegia	3	TRNS1 CL E G H	4574	7497	ORPHA:663	Mitochondrial DNA-related progressive external ophthalmoplegia
HP:0000496	HP:0000544	External ophthalmoplegia	3	TRNS2 CL E G H	4575	7498	ORPHA:550	MELAS
HP:0000496	HP:0000544	External ophthalmoplegia	3	TRNT CL E G H	4576	7499	ORPHA:254857	Lethal infantile mitochondrial myopathy
HP:0000496	HP:0000544	External ophthalmoplegia	3	TRNW CL E G H	4578	7501	ORPHA:550	MELAS
HP:0000496	HP:0000666	Horizontal nystagmus	3	TTBK2 CL E G H	146057	19141	ORPHA:98767	Spinocerebellar ataxia type 11	HP:0040281 - Very frequent		57
HP:0000496	HP:0010544	Vertical nystagmus	3	TTBK2 CL E G H	146057	19141	ORPHA:98767	Spinocerebellar ataxia type 11	HP:0040281 - Very frequent		57
HP:0000496	HP:0020045	Esodeviation	3	TUBB3 CL E G H	10381	20772	ORPHA:300570	Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation			64
HP:0000496	HP:0032012	Heterotropia	3	TUBB3 CL E G H	10381	20772	ORPHA:300570	Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation			64
HP:0000496	HP:0000544	External ophthalmoplegia	3	TUBB3 CL E G H	10381	20772	OMIM:600638	Fibrosis of extraocular muscles, congenital, 3A, with or without extraocularinvolvement			64
HP:0000496	HP:0020049	Exodeviation	3	TUBB3 CL E G H	10381	20772	OMIM:600638	Fibrosis of extraocular muscles, congenital, 3A, with or without extraocularinvolvement			64
HP:0000496	HP:0032012	Heterotropia	3	TUBB3 CL E G H	10381	20772	OMIM:600638	Fibrosis of extraocular muscles, congenital, 3A, with or without extraocularinvolvement			64
HP:0000496	HP:0006934	Congenital nystagmus	3	TULP1 CL E G H	7287	12423	OMIM:613843	Leber congenital amaurosis 15	.		66
HP:0000496	HP:0000544	External ophthalmoplegia	3	TWNK CL E G H	56652	1160	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040281 - Very frequent		113
HP:0000496	HP:0000544	External ophthalmoplegia	3	TWNK CL E G H	56652	1160	OMIM:609286	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3			113
HP:0000496	HP:0000544	External ophthalmoplegia	3	TWNK CL E G H	56652	1160	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis			113
HP:0000496	HP:0000511	Vertical supranuclear gaze palsy	3	TWNK CL E G H	56652	1160	ORPHA:70595	Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome			113
HP:0000496	HP:0000544	External ophthalmoplegia	3	TYMP CL E G H	1890	3148	OMIM:603041	Mitochondrial DNA depletion syndrome 1 (mngie type)			138
HP:0000496	HP:0000544	External ophthalmoplegia	3	TYMP CL E G H	1890	3148	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy	HP:0040281 - Very frequent		138
HP:0000496	HP:0020049	Exodeviation	3	TYR CL E G H	7299	12442	OMIM:203100	Albinism, oculocutaneous, type IA			146
HP:0000496	HP:0032012	Heterotropia	3	TYR CL E G H	7299	12442	OMIM:203100	Albinism, oculocutaneous, type IA			146
HP:0000496	HP:0025068	Incomitant strabismus	3	UBA2 CL E G H	10054	30661	OMIM:619959
HP:0000496	HP:0000640	Gaze-evoked nystagmus	3	UBAP1 CL E G H	51271	12461	OMIM:618418	Spastic paraplegia 80, autosomal dominant	HP:0040284 - Very rare
HP:0000496	HP:0020049	Exodeviation	3	UBE3A CL E G H	7337	12496	OMIM:105830	Angelman syndrome			278
HP:0000496	HP:0032012	Heterotropia	3	UBE3A CL E G H	7337	12496	OMIM:105830	Angelman syndrome			278
HP:0000496	HP:0000640	Gaze-evoked nystagmus	3	UCHL1 CL E G H	7345	12513	OMIM:615491	Spastic paraplegia 79, autosomal recessive			21
HP:0000496	HP:0020045	Esodeviation	3	UFSP2 CL E G H	55325	25640	OMIM:620028				2
HP:0000496	HP:0020049	Exodeviation	3	UFSP2 CL E G H	55325	25640	OMIM:620028				2
HP:0000496	HP:0032012	Heterotropia	3	UFSP2 CL E G H	55325	25640	OMIM:620028				2
HP:0000496	HP:0020045	Esodeviation	3	UNC80 CL E G H	285175	26582	OMIM:616801	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2			23
HP:0000496	HP:0032012	Heterotropia	3	UNC80 CL E G H	285175	26582	OMIM:616801	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2			23
HP:0000496	HP:0020045	Esodeviation	3	UNC80 CL E G H	285175	26582	ORPHA:371364	Hypotonia-speech impairment-severe cognitive delay syndrome			23
HP:0000496	HP:0032012	Heterotropia	3	UNC80 CL E G H	285175	26582	ORPHA:371364	Hypotonia-speech impairment-severe cognitive delay syndrome			23
HP:0000496	HP:0000640	Gaze-evoked nystagmus	3	UROC1 CL E G H	131669	26444	ORPHA:210128	Urocanic aciduria			8
HP:0000496	HP:0000666	Horizontal nystagmus	3	UROC1 CL E G H	131669	26444	ORPHA:210128	Urocanic aciduria			8
HP:0000496	HP:0020045	Esodeviation	3	USP7 CL E G H	7874	12630	ORPHA:500055	16p13.2 microdeletion syndrome			2
HP:0000496	HP:0032012	Heterotropia	3	USP7 CL E G H	7874	12630	ORPHA:500055	16p13.2 microdeletion syndrome			2
HP:0000496	HP:0020045	Esodeviation	3	VAMP1 CL E G H	6843	12642	ORPHA:98914	Presynaptic congenital myasthenic syndromes			2
HP:0000496	HP:0032012	Heterotropia	3	VAMP1 CL E G H	6843	12642	ORPHA:98914	Presynaptic congenital myasthenic syndromes			2
HP:0000496	HP:0000544	External ophthalmoplegia	3	VARS2 CL E G H	57176	21642	OMIM:615917	Combined oxidative phosphorylation deficiency 20			56
HP:0000496	HP:0000640	Gaze-evoked nystagmus	3	VLDLR CL E G H	7436	12698	OMIM:224050	Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1	.		111
HP:0000496	HP:0000511	Vertical supranuclear gaze palsy	3	VPS13A CL E G H	23230	1908	ORPHA:2388	Choreoacanthocytosis			130
HP:0000496	HP:0025402	Square-wave jerks	3	VPS13A CL E G H	23230	1908	ORPHA:2388	Choreoacanthocytosis	HP:0040282 - Frequent		130
HP:0000496	HP:0032105	Macrosaccadic oscillations	3	VPS13D CL E G H	55187	23595	OMIM:607317	Spinocerebellar ataxia, autosomal recessive 4	.
HP:0000496	HP:0001361	Nystagmus-induced head nodding	3	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0000496	HP:0020045	Esodeviation	3	VPS50 CL E G H	55610	25956	OMIM:619685	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND NEONATAL CHOLESTASIS; NEDMSC
HP:0000496	HP:0020045	Esodeviation	3	VRK1 CL E G H	7443	12718	ORPHA:2254	Pontocerebellar hypoplasia type 1			32
HP:0000496	HP:0032012	Heterotropia	3	VRK1 CL E G H	7443	12718	ORPHA:2254	Pontocerebellar hypoplasia type 1			32
HP:0000496	HP:0020045	Esodeviation	3	VSX1 CL E G H	30813	12723	ORPHA:98973	Posterior polymorphous corneal dystrophy			47
HP:0000496	HP:0032012	Heterotropia	3	VSX1 CL E G H	30813	12723	ORPHA:98973	Posterior polymorphous corneal dystrophy			47
HP:0000496	HP:0020049	Exodeviation	3	WARS2 CL E G H	10352	12730	OMIM:617710	Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures			2
HP:0000496	HP:0032012	Heterotropia	3	WARS2 CL E G H	10352	12730	OMIM:617710	Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures			2
HP:0000496	HP:0020049	Exodeviation	3	WARS2 CL E G H	10352	12730	ORPHA:572798	WARS2-related combined oxidative phosphorylation defect			2
HP:0000496	HP:0032012	Heterotropia	3	WARS2 CL E G H	10352	12730	ORPHA:572798	WARS2-related combined oxidative phosphorylation defect			2
HP:0000496	HP:0020049	Exodeviation	3	WT1 CL E G H	7490	12796	OMIM:106210	Aniridia			177
HP:0000496	HP:0032012	Heterotropia	3	WT1 CL E G H	7490	12796	OMIM:106210	Aniridia			177
HP:0000496	HP:0000640	Gaze-evoked nystagmus	3	WWOX CL E G H	51741	12799	OMIM:614322	Spinocerebellar ataxia, autosomal recessive 12	.		149
HP:0000496	HP:0000666	Horizontal nystagmus	3	XRCC1 CL E G H	7515	12828	OMIM:617633	Spinocerebellar ataxia, autosomal recessive 26			4
HP:0000496	HP:0020049	Exodeviation	3	ZC4H2 CL E G H	55906	24931	OMIM:314580	Wieacker-Wolff syndrome			19
HP:0000496	HP:0032012	Heterotropia	3	ZC4H2 CL E G H	55906	24931	OMIM:314580	Wieacker-Wolff syndrome			19
HP:0000496	HP:0020045	Esodeviation	3	ZEB1 CL E G H	6935	11642	ORPHA:98973	Posterior polymorphous corneal dystrophy			8
HP:0000496	HP:0032012	Heterotropia	3	ZEB1 CL E G H	6935	11642	ORPHA:98973	Posterior polymorphous corneal dystrophy			8
HP:0000496	HP:0020045	Esodeviation	3	ZEB2 CL E G H	9839	14881	OMIM:235730	Mowat-Wilson syndrome			362
HP:0000496	HP:0032012	Heterotropia	3	ZEB2 CL E G H	9839	14881	OMIM:235730	Mowat-Wilson syndrome			362
HP:0000496	HP:0025068	Incomitant strabismus	3	ZMIZ1 CL E G H	57178	16493	OMIM:618659	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES; NEDDFSA
HP:0000496	HP:0020045	Esodeviation	3	ZSWIM6 CL E G H	57688	29316	OMIM:617865	Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features			5
HP:0000496	HP:0032012	Heterotropia	3	ZSWIM6 CL E G H	57688	29316	OMIM:617865	Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features			5
HP:0000496	HP:0007250	Recurrent external ophthalmoplegia	4	CL E G H
HP:0000496	HP:0007286	Horizontal jerk nystagmus	4	CL E G H
HP:0000496	HP:0007747	Monocular horizontal nystagmus	4	CL E G H
HP:0000496	HP:0008026	Horizontal opticokinetic nystagmus	4	CL E G H
HP:0000496	HP:0020041	Double elevator palsy	4	CL E G H
HP:0000496	HP:0020042	Double depressor palsy	4	CL E G H
HP:0000496	HP:0020043	Vertical incomitant strabismus	4	CL E G H
HP:0000496	HP:0020044	Horizontal incomitant strabismus	4	CL E G H
HP:0000496	HP:0025585	Hyperphoria	4	CL E G H
HP:0000496	HP:0031622	Brown anomaly	4	CL E G H
HP:0000496	HP:0031724	Microtropia	4	CL E G H
HP:0000496	HP:0031725	Hypophoria	4	CL E G H
HP:0000496	HP:0031776	Cyclotropia	4	CL E G H
HP:0000496	HP:0031777	Cyclophoria	4	CL E G H
HP:0000496	HP:0025331	Upgaze palsy	4	AASS CL E G H	10157	17366	ORPHA:2203	Hyperlysinemia	HP:0040283 - Occasional		15
HP:0000496	HP:0000565	Esotropia	4	ABCC9 CL E G H	10060	60	OMIM:619719	INTELLECTUAL DISABILITY AND MYOPATHY SYNDROME; IDMYS			254
HP:0000496	HP:0000590	Progressive external ophthalmoplegia	4	ACADS CL E G H	35	90	OMIM:201470	Acyl-Coa dehydrogenase, short-chain, deficiency of	HP:0040283 - Occasional		90
HP:0000496	HP:0000577	Exotropia	4	ACADSB CL E G H	36	91	OMIM:610006	2-Methylbutyryl-Coa dehydrogenase deficiency	.		111
HP:0000496	HP:0009921	Duane anomaly	4	ACKR3 CL E G H	57007	23692	OMIM:619215	OCULOMOTOR-ABDUCENS SYNKINESIS; OCABSN
HP:0000496	HP:0007811	Horizontal pendular nystagmus	4	ADAR CL E G H	103	225	ORPHA:225154	Familial infantile bilateral striatal necrosis	HP:0040282 - Frequent		116
HP:0000496	HP:0000577	Exotropia	4	ADARB1 CL E G H	104	226	OMIM:618862	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, MICROCEPHALY, AND SEIZURES; NEDHYMS			1
HP:0000496	HP:0000565	Esotropia	4	ADAT3 CL E G H	113179	25151	OMIM:615286	Mental retardation, autosomal recessive 36	.		9
HP:0000496	HP:0000577	Exotropia	4	ADD3 CL E G H	120	245	OMIM:617008	Cerebral palsy, spastic quadriplegic, 3			3
HP:0000496	HP:0000565	Esotropia	4	ADGRG1 CL E G H	9289	4512	ORPHA:101070	Bilateral frontoparietal polymicrogyria	HP:0040282 - Frequent		88
HP:0000496	HP:0000565	Esotropia	4	ADGRG1 CL E G H	9289	4512	OMIM:606854	Polymicrogyria, bilateral frontoparietal			88
HP:0000496	HP:0000577	Exotropia	4	ADGRG1 CL E G H	9289	4512	OMIM:606854	Polymicrogyria, bilateral frontoparietal	.		88
HP:0000496	HP:0000577	Exotropia	4	ADNP CL E G H	23394	15766	ORPHA:404448	ADNP syndrome	HP:0040284 - Very rare		47
HP:0000496	HP:0025313	Exophoria	4	AFF4 CL E G H	27125	17869	ORPHA:444077	Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome	HP:0040283 - Occasional		6
HP:0000496	HP:0000565	Esotropia	4	AGRN CL E G H	375790	329	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040284 - Very rare		127
HP:0000496	HP:0025331	Upgaze palsy	4	AGTPBP1 CL E G H	23287	17258	OMIM:618276	Neurodegeneration, childhood-onset, with cerebellar atrophy			1
HP:0000496	HP:0000565	Esotropia	4	AGTPBP1 CL E G H	23287	17258	ORPHA:2254	Pontocerebellar hypoplasia type 1			1
HP:0000496	HP:0000565	Esotropia	4	AHCY CL E G H	191	343	ORPHA:88618	S-adenosylhomocysteine hydrolase deficiency	HP:0040282 - Frequent		31
HP:0000496	HP:0000565	Esotropia	4	AHDC1 CL E G H	27245	25230	ORPHA:412069	AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome	HP:0040283 - Occasional		36
HP:0000496	HP:0011477	Upbeat nystagmus	4	AHDC1 CL E G H	27245	25230	ORPHA:412069	AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome	HP:0040282 - Frequent		36
HP:0000496	HP:0000565	Esotropia	4	AHDC1 CL E G H	27245	25230	OMIM:615829	Xia-Gibbs syndrome	.		36
HP:0000496	HP:0000577	Exotropia	4	ALDH3A2 CL E G H	224	403	OMIM:270200	Sjogren-Larsson syndrome			87
HP:0000496	HP:0000565	Esotropia	4	ALG2 CL E G H	85365	23159	ORPHA:79326	ALG2-CDG	HP:0040282 - Frequent		46
HP:0000496	HP:0000565	Esotropia	4	ALG9 CL E G H	79796	15672	ORPHA:79328	ALG9-CDG	HP:0040283 - Occasional		93
HP:0000496	HP:0000565	Esotropia	4	ALG9 CL E G H	79796	15672	OMIM:608776	Congenital disorder of glycosylation, type Il			93
HP:0000496	HP:0000565	Esotropia	4	AMMECR1 CL E G H	9949	467	OMIM:300990	Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis	.		2
HP:0000496	HP:0010545	Downbeat nystagmus	4	ANO10 CL E G H	55129	25519	ORPHA:284289	Adult-onset autosomal recessive cerebellar ataxia	HP:0040282 - Frequent		64
HP:0000496	HP:0000565	Esotropia	4	AP1G1 CL E G H	164	555	OMIM:619467	USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL DOMINANT; USRISD
HP:0000496	HP:0000565	Esotropia	4	APC CL E G H	324	583	ORPHA:99818	Turcot syndrome with polyposis			3179
HP:0000496	HP:0000590	Progressive external ophthalmoplegia	4	APTX CL E G H	54840	15984	OMIM:208920	Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia	.		61
HP:0000496	HP:0000565	Esotropia	4	ARHGAP31 CL E G H	57514	29216	OMIM:100300	Adams-Oliver syndrome 1	.		147
HP:0000496	HP:0007811	Horizontal pendular nystagmus	4	ARHGEF2 CL E G H	9181	682	OMIM:617523	Neurodevelopmental disorder with midbrain and hindbrain malformations			1
HP:0000496	HP:0000565	Esotropia	4	ARPC4 CL E G H	10093	707	OMIM:620141
HP:0000496	HP:0000577	Exotropia	4	ARPC4 CL E G H	10093	707	OMIM:620141
HP:0000496	HP:0009921	Duane anomaly	4	ARX CL E G H	170302	18060	OMIM:300215	Lissencephaly, X-linked, 2	.		166
HP:0000496	HP:0000565	Esotropia	4	ATAD3A CL E G H	55210	25567	OMIM:617183	Harel-Yoon syndrome	.		5
HP:0000496	HP:0000565	Esotropia	4	ATAD3A CL E G H	55210	25567	ORPHA:496790	Ocular anomalies-axonal neuropathy-developmental delay syndrome	HP:0040283 - Occasional		5
HP:0000496	HP:0000565	Esotropia	4	ATOH7 CL E G H	220202	13907	OMIM:221900	Persistent hyperplastic primary vitreous, autosomal recessive	.		4
HP:0000496	HP:0025331	Upgaze palsy	4	ATP13A2 CL E G H	23400	30213	ORPHA:314632	ATP13A2-related juvenile neuronal ceroid lipofuscinosis	HP:0040282 - Frequent		100
HP:0000496	HP:0000565	Esotropia	4	ATP1A2 CL E G H	477	800	ORPHA:2131	Alternating hemiplegia of childhood	HP:0040282 - Frequent		239
HP:0000496	HP:0000577	Exotropia	4	ATP1A2 CL E G H	477	800	ORPHA:2131	Alternating hemiplegia of childhood	HP:0040282 - Frequent		239
HP:0000496	HP:0007979	Gaze-evoked horizontal nystagmus	4	ATP1A2 CL E G H	477	800	ORPHA:569	Familial or sporadic hemiplegic migraine	HP:0040283 - Occasional		239
HP:0000496	HP:0012044	Seesaw nystagmus	4	ATP1A2 CL E G H	477	800	ORPHA:569	Familial or sporadic hemiplegic migraine	HP:0040283 - Occasional		239
HP:0000496	HP:0000565	Esotropia	4	ATP1A3 CL E G H	478	801	ORPHA:2131	Alternating hemiplegia of childhood	HP:0040282 - Frequent		150
HP:0000496	HP:0000577	Exotropia	4	ATP1A3 CL E G H	478	801	ORPHA:2131	Alternating hemiplegia of childhood	HP:0040282 - Frequent		150
HP:0000496	HP:0007811	Horizontal pendular nystagmus	4	ATP6 CL E G H	4508	7414	ORPHA:225154	Familial infantile bilateral striatal necrosis	HP:0040282 - Frequent
HP:0000496	HP:0000590	Progressive external ophthalmoplegia	4	ATP8 CL E G H	4509	7415	ORPHA:480	Kearns-Sayre syndrome	HP:0040281 - Very frequent
HP:0000496	HP:0000577	Exotropia	4	ATRX CL E G H	546	886	OMIM:309580	Mental retardation-hypotonic facies syndrome, X-linked, 1	.		169
HP:0000496	HP:0025331	Upgaze palsy	4	ATXN1 CL E G H	6310	10548	ORPHA:98755	Spinocerebellar ataxia type 1	HP:0040282 - Frequent		19
HP:0000496	HP:0000590	Progressive external ophthalmoplegia	4	ATXN3 CL E G H	4287	7106	ORPHA:276238	Machado-Joseph disease type 1	HP:0040281 - Very frequent		14
HP:0000496	HP:0000590	Progressive external ophthalmoplegia	4	ATXN3 CL E G H	4287	7106	ORPHA:276241	Machado-Joseph disease type 2	HP:0040281 - Very frequent		14
HP:0000496	HP:0000590	Progressive external ophthalmoplegia	4	ATXN3 CL E G H	4287	7106	ORPHA:276244	Machado-Joseph disease type 3	HP:0040281 - Very frequent		14
HP:0000496	HP:0000565	Esotropia	4	B3GAT3 CL E G H	26229	923	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects	.		5
HP:0000496	HP:0000577	Exotropia	4	BCOR CL E G H	54880	20893	OMIM:300166	Microphthalmia, syndromic 2	.		101
HP:0000496	HP:0000577	Exotropia	4	BCORL1 CL E G H	63035	25657	OMIM:301029	Shukla-Vernon syndrome	.		17
HP:0000496	HP:0007979	Gaze-evoked horizontal nystagmus	4	BEAN1 CL E G H	146227	24160	OMIM:117210	Spinocerebellar ataxia 31	HP:0040282 - Frequent		1
HP:0000496	HP:0000565	Esotropia	4	BLOC1S3 CL E G H	388552	20914	OMIM:614077	Hermansky-Pudlak syndrome 8	.		42
HP:0000496	HP:0000577	Exotropia	4	BLOC1S3 CL E G H	388552	20914	OMIM:614077	Hermansky-Pudlak syndrome 8	.		42
HP:0000496	HP:0000590	Progressive external ophthalmoplegia	4	C1QBP CL E G H	708	1243	OMIM:617713	Combined oxidative phosphorylation deficiency 33	.
HP:0000496	HP:0000565	Esotropia	4	CACNA1A CL E G H	773	1388	ORPHA:2131	Alternating hemiplegia of childhood	HP:0040282 - Frequent		449
HP:0000496	HP:0000577	Exotropia	4	CACNA1A CL E G H	773	1388	ORPHA:2131	Alternating hemiplegia of childhood	HP:0040282 - Frequent		449
HP:0000496	HP:0000565	Esotropia	4	CACNA1A CL E G H	773	1388	OMIM:617106	Epileptic encephalopathy, early infantile, 42	.		449
HP:0000496	HP:0010545	Downbeat nystagmus	4	CACNA1A CL E G H	773	1388	OMIM:108500	Episodic ataxia, type 2	.		449
HP:0000496	HP:0007979	Gaze-evoked horizontal nystagmus	4	CACNA1A CL E G H	773	1388	ORPHA:569	Familial or sporadic hemiplegic migraine	HP:0040283 - Occasional		449
HP:0000496	HP:0012044	Seesaw nystagmus	4	CACNA1A CL E G H	773	1388	ORPHA:569	Familial or sporadic hemiplegic migraine	HP:0040283 - Occasional		449
HP:0000496	HP:0007979	Gaze-evoked horizontal nystagmus	4	CACNA1A CL E G H	773	1388	ORPHA:98758	Spinocerebellar ataxia type 6	HP:0040281 - Very frequent		449
HP:0000496	HP:0000577	Exotropia	4	CACNA1F CL E G H	778	1393	OMIM:300071	Night blindness, congenital stationary, type 2A			58
HP:0000496	HP:0007979	Gaze-evoked horizontal nystagmus	4	CACNA1G CL E G H	8913	1394	ORPHA:458803	Spinocerebellar ataxia type 42	HP:0040282 - Frequent		32
HP:0000496	HP:0000565	Esotropia	4	CAMK2B CL E G H	816	1461	OMIM:617799	Mental retardation, autosomal dominant 54
HP:0000496	HP:0000565	Esotropia	4	CARS1 CL E G H	833	1493	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional
HP:0000496	HP:0009921	Duane anomaly	4	CCNQ CL E G H	92002	28434	OMIM:300707	Toe syndactyly, telecanthus, and anogenital and renal malformations	.		7
HP:0000496	HP:0000577	Exotropia	4	CDC42 CL E G H	998	1736	ORPHA:487796	Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome	HP:0040283 - Occasional		6
HP:0000496	HP:0000577	Exotropia	4	CDC42 CL E G H	998	1736	OMIM:616737	Takenouchi-Kosaki syndrome			6
HP:0000496	HP:0000565	Esotropia	4	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0000496	HP:0000565	Esotropia	4	CHAT CL E G H	1103	1912	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040284 - Very rare		65
HP:0000496	HP:0000565	Esotropia	4	CHMP1A CL E G H	5119	8740	OMIM:614961	Pontocerebellar hypoplasia, type 8	.		19
HP:0000496	HP:0009921	Duane anomaly	4	CHN1 CL E G H	1123	1943	OMIM:604356	DUANE RETRACTION SYNDROME 2; DURS2			35
HP:0000496	HP:0000565	Esotropia	4	CHST3 CL E G H	9469	1971	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects	.		165
HP:0000496	HP:0000565	Esotropia	4	CLCN3 CL E G H	1182	2021	OMIM:619512	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA			2
HP:0000496	HP:0000565	Esotropia	4	CLCN6 CL E G H	1185	2024	OMIM:619173	NEURODEGENERATION, CHILDHOOD-ONSET, WITH HYPOTONIA, RESPIRATORY INSUFFICIENCY, AND BRAIN IMAGING ABNORMALITIES; CONRIBA
HP:0000496	HP:0000565	Esotropia	4	CLP1 CL E G H	10978	16999	OMIM:615803	Pontocerebellar hypoplasia, type 10	.		7
HP:0000496	HP:0012044	Seesaw nystagmus	4	CLTCL1 CL E G H	8218	2093	ORPHA:453510	Congenital insensitivity to pain with severe intellectual disability	HP:0040283 - Occasional		6
HP:0000496	HP:0007811	Horizontal pendular nystagmus	4	CNGB3 CL E G H	54714	2153	OMIM:262300	Achromatopsia 3	.		194
HP:0000496	HP:0000565	Esotropia	4	COG8 CL E G H	84342	18623	ORPHA:95428	COG8-CDG			39
HP:0000496	HP:0000565	Esotropia	4	COG8 CL E G H	84342	18623	OMIM:611182	Congenital disorder of glycosylation, type IIh			39
HP:0000496	HP:0000565	Esotropia	4	COL11A1 CL E G H	1301	2186	OMIM:154780	Marshall syndrome	.		215
HP:0000496	HP:0000565	Esotropia	4	COL12A1 CL E G H	1303	2188	ORPHA:75840	Congenital muscular dystrophy, Ullrich type	HP:0040282 - Frequent		65
HP:0000496	HP:0000565	Esotropia	4	COL13A1 CL E G H	1305	2190	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040284 - Very rare		6
HP:0000496	HP:0009921	Duane anomaly	4	COL25A1 CL E G H	84570	18603	OMIM:616219	Fibrosis of extraocular muscles, congenital, 5			3
HP:0000496	HP:0000577	Exotropia	4	COL4A1 CL E G H	1282	2202	OMIM:175780	Brain small vessel disease 1 with or without ocular anomalies	.		193
HP:0000496	HP:0000565	Esotropia	4	COL4A2 CL E G H	1284	2203	OMIM:614483	PORENCEPHALY 2; POREN2			147
HP:0000496	HP:0000565	Esotropia	4	COL6A1 CL E G H	1291	2211	ORPHA:75840	Congenital muscular dystrophy, Ullrich type	HP:0040282 - Frequent		442
HP:0000496	HP:0000565	Esotropia	4	COL6A2 CL E G H	1292	2212	ORPHA:75840	Congenital muscular dystrophy, Ullrich type	HP:0040282 - Frequent		478
HP:0000496	HP:0000565	Esotropia	4	COL6A3 CL E G H	1293	2213	ORPHA:75840	Congenital muscular dystrophy, Ullrich type	HP:0040282 - Frequent		702
HP:0000496	HP:0000565	Esotropia	4	COL8A2 CL E G H	1296	2216	ORPHA:98973	Posterior polymorphous corneal dystrophy	HP:0040284 - Very rare		3
HP:0000496	HP:0010545	Downbeat nystagmus	4	COQ2 CL E G H	27235	25223	ORPHA:227510	Multiple system atrophy, cerebellar type	HP:0040282 - Frequent		54
HP:0000496	HP:0000590	Progressive external ophthalmoplegia	4	COX1 CL E G H	4512	7419	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0000496	HP:0000590	Progressive external ophthalmoplegia	4	COX2 CL E G H	4513	7421	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0000496	HP:0000590	Progressive external ophthalmoplegia	4	COX3 CL E G H	4514	7422	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0000496	HP:0000565	Esotropia	4	CPLANE1 CL E G H	65250	25801	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040282 - Frequent
HP:0000496	HP:0000565	Esotropia	4	CPLANE1 CL E G H	65250	25801	OMIM:277170	Orofaciodigital syndrome VI	.
HP:0000496	HP:0000565	Esotropia	4	CRB1 CL E G H	23418	2343	OMIM:172870	Pigmented paravenous chorioretinal atrophy	.		156
HP:0000496	HP:0000577	Exotropia	4	CRB1 CL E G H	23418	2343	OMIM:600105	Retinitis pigmentosa 12			156
HP:0000496	HP:0000577	Exotropia	4	CRIPT CL E G H	9419	14312	OMIM:615789	Short stature with microcephaly and distinctive facies	.		4
HP:0000496	HP:0009921	Duane anomaly	4	CSPP1 CL E G H	79848	26193	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy	HP:0040283 - Occasional		57
HP:0000496	HP:0000565	Esotropia	4	CYB5A CL E G H	1528	2570	ORPHA:621	Hereditary methemoglobinemia	HP:0040283 - Occasional		2
HP:0000496	HP:0000565	Esotropia	4	CYB5R3 CL E G H	1727	2873	ORPHA:621	Hereditary methemoglobinemia	HP:0040283 - Occasional		24
HP:0000496	HP:0000565	Esotropia	4	DDOST CL E G H	1650	2728	ORPHA:300536	DDOST-CDG	HP:0040281 - Very frequent		62
HP:0000496	HP:0000590	Progressive external ophthalmoplegia	4	DGUOK CL E G H	1716	2858	ORPHA:329314	Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency	HP:0040282 - Frequent		57
HP:0000496	HP:0000590	Progressive external ophthalmoplegia	4	DGUOK CL E G H	1716	2858	OMIM:617070	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4	.		57
HP:0000496	HP:0025331	Upgaze palsy	4	DLAT CL E G H	1737	2896	ORPHA:79244	Pyruvate dehydrogenase E2 deficiency	HP:0040282 - Frequent		82
HP:0000496	HP:0000565	Esotropia	4	DLK1 CL E G H	8788	2907	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion	HP:0040283 - Occasional		1
HP:0000496	HP:0000590	Progressive external ophthalmoplegia	4	DNA2 CL E G H	1763	2939	ORPHA:352470	DNA2-related mitochondrial DNA deletion syndrome	HP:0040281 - Very frequent		41
HP:0000496	HP:0000590	Progressive external ophthalmoplegia	4	DNA2 CL E G H	1763	2939	OMIM:615156	Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal dominant, 6	.		41
HP:0000496	HP:0009921	Duane anomaly	4	DNM1L CL E G H	10059	2973	ORPHA:98673	Autosomal dominant optic atrophy, classic form	HP:0040284 - Very rare		94
HP:0000496	HP:0000577	Exotropia	4	DNMBP CL E G H	23268	30373	OMIM:618415	Cataract 48	.
HP:0000496	HP:0000577	Exotropia	4	DPAGT1 CL E G H	1798	2995	OMIM:608093	Congenital disorder of glycosylation, type Ij	.		38
HP:0000496	HP:0000577	Exotropia	4	DPAGT1 CL E G H	1798	2995	ORPHA:86309	DPAGT1-CDG	HP:0040283 - Occasional		38
HP:0000496	HP:0000565	Esotropia	4	DPM1 CL E G H	8813	3005	ORPHA:79322	DPM1-CDG	HP:0040283 - Occasional		27
HP:0000496	HP:0000565	Esotropia	4	DPP6 CL E G H	1804	3010	ORPHA:2514	Autosomal dominant primary microcephaly			18
HP:0000496	HP:0000565	Esotropia	4	DYRK1A CL E G H	1859	3091	ORPHA:268261	DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion	HP:0040283 - Occasional		134
HP:0000496	HP:0000577	Exotropia	4	DYRK1A CL E G H	1859	3091	ORPHA:464311	Intellectual disability syndrome due to a DYRK1A point mutation	HP:0040283 - Occasional		134
HP:0000496	HP:0000577	Exotropia	4	EFNB1 CL E G H	1947	3226	OMIM:304110	Craniofrontonasal syndrome	.		27
HP:0000496	HP:0000565	Esotropia	4	EMC1 CL E G H	23065	28957	OMIM:616875	Cerebellar atrophy, visual impairment, and psychomotor retardation			5
HP:0000496	HP:0000565	Esotropia	4	EMC1 CL E G H	23065	28957	ORPHA:480898	Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome	HP:0040283 - Occasional		5
HP:0000496	HP:0000565	Esotropia	4	ERCC2 CL E G H	2068	3434	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		106
HP:0000496	HP:0000565	Esotropia	4	ERCC3 CL E G H	2071	3435	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		54
HP:0000496	HP:0000577	Exotropia	4	EXOC8 CL E G H	149371	24659	OMIM:619076	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND BRAIN ATROPHY; NEDMISB			1
HP:0000496	HP:0000565	Esotropia	4	EXOSC3 CL E G H	51010	17944	ORPHA:2254	Pontocerebellar hypoplasia type 1			38
HP:0000496	HP:0000565	Esotropia	4	EXOSC5 CL E G H	56915	24662	OMIM:619576	CEREBELLAR ATAXIA, BRAIN ABNORMALITIES, AND CARDIAC CONDUCTION DEFECTS; CABAC
HP:0000496	HP:0000565	Esotropia	4	EXOSC8 CL E G H	11340	17035	ORPHA:2254	Pontocerebellar hypoplasia type 1			4
HP:0000496	HP:0000565	Esotropia	4	EXOSC9 CL E G H	5393	9137	ORPHA:2254	Pontocerebellar hypoplasia type 1
HP:0000496	HP:0000565	Esotropia	4	EXOSC9 CL E G H	5393	9137	OMIM:618065	Pontocerebellar hypoplasia, type 1D
HP:0000496	HP:0000565	Esotropia	4	FAM149B1 CL E G H	317662	29162	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040282 - Frequent
HP:0000496	HP:0000565	Esotropia	4	FBN1 CL E G H	2200	3603	OMIM:154700	Marfan syndrome			1361
HP:0000496	HP:0000577	Exotropia	4	FBN1 CL E G H	2200	3603	OMIM:154700	Marfan syndrome			1361
HP:0000496	HP:0025586	Hypertropia	4	FBN1 CL E G H	2200	3603	OMIM:154700	Marfan syndrome			1361
HP:0000496	HP:0000565	Esotropia	4	FBXO28 CL E G H	23219	29046	OMIM:619777	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100
HP:0000496	HP:0000577	Exotropia	4	FBXW11 CL E G H	23291	13607	OMIM:618914	NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME; NEDJED
HP:0000496	HP:0000577	Exotropia	4	FGF10 CL E G H	2255	3666	ORPHA:2363	Lacrimoauriculodentodigital syndrome	HP:0040284 - Very rare		17
HP:0000496	HP:0011477	Upbeat nystagmus	4	FGF14 CL E G H	2259	3671	OMIM:193003	Nystagmus 4, congenital, autosomal dominant	.		47
HP:0000496	HP:0000577	Exotropia	4	FGFR2 CL E G H	2263	3689	ORPHA:2363	Lacrimoauriculodentodigital syndrome	HP:0040284 - Very rare		175
HP:0000496	HP:0000577	Exotropia	4	FGFR3 CL E G H	2261	3690	OMIM:616482	Achondroplasia, severe, with developmental delay and acanthosis nigricans	HP:0040283 - Occasional		145
HP:0000496	HP:0000577	Exotropia	4	FGFR3 CL E G H	2261	3690	ORPHA:2363	Lacrimoauriculodentodigital syndrome	HP:0040284 - Very rare		145
HP:0000496	HP:0000565	Esotropia	4	FRMD5 CL E G H	84978	28214	OMIM:620094
HP:0000496	HP:0025331	Upgaze palsy	4	FTL CL E G H	2512	3999	ORPHA:157846	Neuroferritinopathy	HP:0040284 - Very rare		33
HP:0000496	HP:0000565	Esotropia	4	FZD4 CL E G H	8322	4042	OMIM:133780	Exudative vitreoretinopathy 1			109
HP:0000496	HP:0000565	Esotropia	4	GALC CL E G H	2581	4115	ORPHA:206443	Late-infantile/juvenile Krabbe disease	HP:0040282 - Frequent		160
HP:0000496	HP:0000577	Exotropia	4	GALNT2 CL E G H	2590	4124	OMIM:618885	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt; CDG2T
HP:0000496	HP:0000565	Esotropia	4	GBA1 CL E G H	2629	4177	OMIM:230900	Gaucher disease, type II	.
HP:0000496	HP:0007979	Gaze-evoked horizontal nystagmus	4	GCH1 CL E G H	2643	4193	OMIM:128230	Dystonia, DOPA-responsive, with or without hyperphenylalaninemia			86
HP:0000496	HP:0000590	Progressive external ophthalmoplegia	4	GIPC1 CL E G H	10755	1226	ORPHA:98897	Oculopharyngodistal myopathy	HP:0040281 - Very frequent
HP:0000496	HP:0025313	Exophoria	4	GJA5 CL E G H	2702	4279	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb			39
HP:0000496	HP:0009921	Duane anomaly	4	GJA5 CL E G H	2702	4279	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb			39
HP:0000496	HP:0025313	Exophoria	4	GJA8 CL E G H	2703	4281	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb			34
HP:0000496	HP:0009921	Duane anomaly	4	GJA8 CL E G H	2703	4281	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb			34
HP:0000496	HP:0000565	Esotropia	4	GLRB CL E G H	2743	4329	OMIM:614619	Hyperekplexia 2			46
HP:0000496	HP:0000565	Esotropia	4	GNA14 CL E G H	9630	4382	ORPHA:1063	Tufted angioma	HP:0040283 - Occasional
HP:0000496	HP:0000565	Esotropia	4	GNB1 CL E G H	2782	4396	OMIM:616973	Mental retardation, autosomal dominant 42			12
HP:0000496	HP:0000577	Exotropia	4	GNB1 CL E G H	2782	4396	OMIM:616973	Mental retardation, autosomal dominant 42			12
HP:0000496	HP:0000577	Exotropia	4	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0000496	HP:0000565	Esotropia	4	GRHL2 CL E G H	79977	2799	ORPHA:98973	Posterior polymorphous corneal dystrophy	HP:0040284 - Very rare		33
HP:0000496	HP:0000565	Esotropia	4	GRID2 CL E G H	2895	4576	OMIM:616204	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18; SCAR18			18
HP:0000496	HP:0007859	Congenital horizontal nystagmus	4	GRIK2 CL E G H	2898	4580	OMIM:619580	NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND ATAXIA AND WITH OR WITHOUT SEIZURES; NEDLAS			32
HP:0000496	HP:0000565	Esotropia	4	GRM1 CL E G H	2911	4593	ORPHA:324262	Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency	HP:0040282 - Frequent		8
HP:0000496	HP:0007979	Gaze-evoked horizontal nystagmus	4	GRM1 CL E G H	2911	4593	ORPHA:324262	Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency	HP:0040283 - Occasional		8
HP:0000496	HP:0000565	Esotropia	4	GRM1 CL E G H	2911	4593	OMIM:614831	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13; SCAR13			8
HP:0000496	HP:0007979	Gaze-evoked horizontal nystagmus	4	GRM1 CL E G H	2911	4593	OMIM:614831	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13; SCAR13			8
HP:0000496	HP:0000565	Esotropia	4	GTF2E2 CL E G H	2961	4651	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		2
HP:0000496	HP:0000565	Esotropia	4	GTF2E2 CL E G H	2961	4651	OMIM:616943	Trichothiodystrophy 6, nonphotosensitive			2
HP:0000496	HP:0000565	Esotropia	4	GTF2H5 CL E G H	404672	21157	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		3
HP:0000496	HP:0000565	Esotropia	4	H4C11 CL E G H	8363	4785	OMIM:619759	TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 2; TEVANED2
HP:0000496	HP:0000577	Exotropia	4	H4C5 CL E G H	8367	4790	OMIM:619950
HP:0000496	HP:0025313	Exophoria	4	HACE1 CL E G H	57531	21033	ORPHA:464282	Spastic paraplegia-severe developmental delay-epilepsy syndrome	HP:0040282 - Frequent		10
HP:0000496	HP:0000577	Exotropia	4	HADHA CL E G H	3030	4801	ORPHA:5	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency	HP:0040282 - Frequent		99
HP:0000496	HP:0000565	Esotropia	4	HERC2 CL E G H	8924	4868	OMIM:176270	Prader-Willi syndrome			38
HP:0000496	HP:0000565	Esotropia	4	HMGB3 CL E G H	3149	5004	OMIM:300915	Microphthalmia, syndromic 13	.		2
HP:0000496	HP:0000577	Exotropia	4	HNRNPH2 CL E G H	3188	5042	OMIM:300986	MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE; MRXSB			3
HP:0000496	HP:0009921	Duane anomaly	4	HOXA1 CL E G H	3198	5099	OMIM:601536	ATHABASKAN BRAINSTEM DYSGENESIS SYNDROME; ABDS			34
HP:0000496	HP:0000565	Esotropia	4	HOXB1 CL E G H	3211	5111	OMIM:614744	Facial paresis, hereditary congenital, 3	HP:0040283 - Occasional		2
HP:0000496	HP:0025312	Esophoria	4	HOXB1 CL E G H	3211	5111	OMIM:614744	Facial paresis, hereditary congenital, 3	HP:0040283 - Occasional		2
HP:0000496	HP:0000565	Esotropia	4	HPDL CL E G H	84842	28242	OMIM:619026	NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE SPASTICITY AND BRAIN WHITE MATTER ABNORMALITIES; NEDSWMA
HP:0000496	HP:0000565	Esotropia	4	HPS3 CL E G H	84343	15597	OMIM:614072	Hermansky-Pudlak syndrome 3			67
HP:0000496	HP:0000565	Esotropia	4	HUWE1 CL E G H	10075	30892	OMIM:309590	Mental retardation, x-linked syndromic, Turner type	.		98
HP:0000496	HP:0000565	Esotropia	4	IARS2 CL E G H	55699	29685	OMIM:616007	Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia	.		25
HP:0000496	HP:0000565	Esotropia	4	IPW CL E G H	3653	6109	OMIM:176270	Prader-Willi syndrome
HP:0000496	HP:0000565	Esotropia	4	IRF2BPL CL E G H	64207	14282	OMIM:618088	Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures	.
HP:0000496	HP:0007979	Gaze-evoked horizontal nystagmus	4	ITPR1 CL E G H	3708	6180	OMIM:606658	Spinocerebellar ataxia 15	.		177
HP:0000496	HP:0000565	Esotropia	4	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome			34
HP:0000496	HP:0000565	Esotropia	4	KAT8 CL E G H	84148	17933	OMIM:618974	LI-GHORBANI-WEISZ-HUBSHMAN SYNDROME; LIGOWS
HP:0000496	HP:0025331	Upgaze palsy	4	KCNC3 CL E G H	3748	6235	ORPHA:98768	Spinocerebellar ataxia type 13	HP:0040284 - Very rare		17
HP:0000496	HP:0007979	Gaze-evoked horizontal nystagmus	4	KCND3 CL E G H	3752	6239	OMIM:607346	Spinocerebellar ataxia 19	.		35
HP:0000496	HP:0000565	Esotropia	4	KCNMA1 CL E G H	3778	6284	ORPHA:79137	Generalized epilepsy-paroxysmal dyskinesia syndrome	HP:0040283 - Occasional		114
HP:0000496	HP:0009921	Duane anomaly	4	KCNN2 CL E G H	3781	6291	OMIM:619724	DYSTONIA 34, MYOCLONIC; DYT34
HP:0000496	HP:0000577	Exotropia	4	KDM1A CL E G H	23028	29079	OMIM:616728	Cleft palate, psychomotor retardation, and distinctive facial features			3
HP:0000496	HP:0000577	Exotropia	4	KDM1A CL E G H	23028	29079	ORPHA:477993	Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome	HP:0040282 - Frequent		3
HP:0000496	HP:0000565	Esotropia	4	KDM6B CL E G H	23135	29012	OMIM:618505	Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities	.		9
HP:0000496	HP:0000577	Exotropia	4	KDM6B CL E G H	23135	29012	OMIM:618505	Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities	.		9
HP:0000496	HP:0009921	Duane anomaly	4	KIAA0586 CL E G H	9786	19960	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy	HP:0040283 - Occasional		24
HP:0000496	HP:0000565	Esotropia	4	KIAA0753 CL E G H	9851	29110	OMIM:619476	JOUBERT SYNDROME 38; JBTS38			4
HP:0000496	HP:0000565	Esotropia	4	KIAA0753 CL E G H	9851	29110	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040282 - Frequent		4
HP:0000496	HP:0000565	Esotropia	4	KIDINS220 CL E G H	57498	29508	OMIM:617296	SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY; SINO			4
HP:0000496	HP:0025312	Esophoria	4	KIDINS220 CL E G H	57498	29508	ORPHA:521390	Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome	HP:0040282 - Frequent		4
HP:0000496	HP:0000565	Esotropia	4	KIF21A CL E G H	55605	19349	OMIM:135700	Fibrosis of extraocular muscles, congenital, 1	.		93
HP:0000496	HP:0000577	Exotropia	4	KIF21A CL E G H	55605	19349	OMIM:135700	Fibrosis of extraocular muscles, congenital, 1	.		93
HP:0000496	HP:0007936	Restrictive external ophthalmoplegia	4	KIF21A CL E G H	55605	19349	OMIM:135700	Fibrosis of extraocular muscles, congenital, 1	.		93
HP:0000496	HP:0000565	Esotropia	4	KIF7 CL E G H	374654	30497	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040282 - Frequent		167
HP:0000496	HP:0000565	Esotropia	4	LAGE3 CL E G H	8270	26058	OMIM:301006	Galloway-Mowat syndrome 2, X-linked	.
HP:0000496	HP:0000577	Exotropia	4	LCA5 CL E G H	167691	31923	ORPHA:364055	Severe early-childhood-onset retinal dystrophy	HP:0040283 - Occasional		70
HP:0000496	HP:0000565	Esotropia	4	LGI4 CL E G H	163175	18712	OMIM:617468	Arthrogryposis multiplex congenita, neurogenic, with myelin defect	.		6
HP:0000496	HP:0000565	Esotropia	4	LMBRD2 CL E G H	92255	25287	OMIM:619694	DEVELOPMENTAL DELAY WITH VARIABLE NEUROLOGIC AND BRAIN ABNORMALITIES; DENBA
HP:0000496	HP:0000565	Esotropia	4	LMNB1 CL E G H	4001	6637	ORPHA:2514	Autosomal dominant primary microcephaly			44
HP:0000496	HP:0000577	Exotropia	4	LRAT CL E G H	9227	6685	ORPHA:364055	Severe early-childhood-onset retinal dystrophy	HP:0040283 - Occasional		62
HP:0000496	HP:0000565	Esotropia	4	LRP5 CL E G H	4041	6697	OMIM:133780	Exudative vitreoretinopathy 1			125
HP:0000496	HP:0007811	Horizontal pendular nystagmus	4	LRP5 CL E G H	4041	6697	OMIM:601813	Exudative vitreoretinopathy 4	.		125
HP:0000496	HP:0000577	Exotropia	4	LYRM7 CL E G H	90624	28072	OMIM:615838	Mitochondrial complex III deficiency, nuclear type 8	.		10
HP:0000496	HP:0000565	Esotropia	4	MADD CL E G H	8567	6766	OMIM:619004	DEEAH SYNDROME; DEEAH			5
HP:0000496	HP:0000577	Exotropia	4	MADD CL E G H	8567	6766	OMIM:619005	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA; NEDDISH			5
HP:0000496	HP:0009921	Duane anomaly	4	MAFB CL E G H	9935	6408	OMIM:617041	Duane retraction syndrome 3 with or without deafness			63
HP:0000496	HP:0000565	Esotropia	4	MAGEL2 CL E G H	54551	6814	ORPHA:398069	MAGEL2-related Prader-Willi-like syndrome	HP:0040283 - Occasional		63
HP:0000496	HP:0000565	Esotropia	4	MAGEL2 CL E G H	54551	6814	OMIM:176270	Prader-Willi syndrome			63
HP:0000496	HP:0000565	Esotropia	4	MAGEL2 CL E G H	54551	6814	OMIM:615547	Schaaf-Yang syndrome	.		63
HP:0000496	HP:0000565	Esotropia	4	MBD5 CL E G H	55777	20444	OMIM:156200	Mental retardation, autosomal dominant 1	.		252
HP:0000496	HP:0000577	Exotropia	4	MC1R CL E G H	4157	6929	OMIM:203200	Albinism, oculocutaneous, type II	.		124
HP:0000496	HP:0025312	Esophoria	4	MECR CL E G H	51102	19691	OMIM:617282	Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities			6
HP:0000496	HP:0025312	Esophoria	4	MECR CL E G H	51102	19691	ORPHA:508093	MEPAN syndrome			6
HP:0000496	HP:0000565	Esotropia	4	MED12 CL E G H	9968	11957	OMIM:301068	HARDIKAR SYNDROME; HDKR			228
HP:0000496	HP:0009921	Duane anomaly	4	MED13 CL E G H	9969	22474	OMIM:618009	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 61; MRD61			4
HP:0000496	HP:0000565	Esotropia	4	MEG3 CL E G H	55384	14575	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion	HP:0040283 - Occasional		1
HP:0000496	HP:0000590	Progressive external ophthalmoplegia	4	MGME1 CL E G H	92667	16205	OMIM:615084	Mitochondrial DNA depletion syndrome 11	.		11
HP:0000496	HP:0000590	Progressive external ophthalmoplegia	4	MGME1 CL E G H	92667	16205	ORPHA:352447	Progressive external ophthalmoplegia-myopathy-emaciation syndrome	HP:0040281 - Very frequent		11
HP:0000496	HP:0000565	Esotropia	4	MKRN3 CL E G H	7681	7114	OMIM:176270	Prader-Willi syndrome			5
HP:0000496	HP:0000565	Esotropia	4	MKRN3-AS1 CL E G H	10108		OMIM:176270	Prader-Willi syndrome
HP:0000496	HP:0009921	Duane anomaly	4	MN1 CL E G H	4330	7180	OMIM:618774	CEBALID SYNDROME; CEBALID			1
HP:0000496	HP:0000565	Esotropia	4	MPLKIP CL E G H	136647	16002	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		9
HP:0000496	HP:0000577	Exotropia	4	MRPS34 CL E G H	65993	16618	OMIM:617664	Combined oxidative phosphorylation deficiency 32	.		1
HP:0000496	HP:0000577	Exotropia	4	MYF5 CL E G H	4617	7565	OMIM:618155	Ophthalmoplegia, external, with rib and vertebral anomalies	.
HP:0000496	HP:0025584	Hypotropia	4	MYF5 CL E G H	4617	7565	OMIM:618155	Ophthalmoplegia, external, with rib and vertebral anomalies	.
HP:0000496	HP:0000565	Esotropia	4	MYO9A CL E G H	4649	7608	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040284 - Very rare
HP:0000496	HP:0000565	Esotropia	4	MYOD1 CL E G H	4654	7611	OMIM:618975	MYOPATHY, CONGENITAL, WITH DIAPHRAGMATIC DEFECTS, RESPIRATORY INSUFFICIENCY, AND DYSMORPHIC FACIES; MYODRIF
HP:0000496	HP:0000565	Esotropia	4	NALCN CL E G H	259232	19082	OMIM:616266	Congenital contractures of the limbs and face, hypotonia, and developmental delay			48
HP:0000496	HP:0000565	Esotropia	4	NALCN CL E G H	259232	19082	ORPHA:371364	Hypotonia-speech impairment-severe cognitive delay syndrome	HP:0040281 - Very frequent		48
HP:0000496	HP:0000565	Esotropia	4	NCDN CL E G H	23154	17597	OMIM:619373	NEURODEVELOPMENTAL DISORDER WITH INFANTILE EPILEPTIC SPASMS; NEDIES
HP:0000496	HP:0000590	Progressive external ophthalmoplegia	4	ND1 CL E G H	4535	7455	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0000496	HP:0000590	Progressive external ophthalmoplegia	4	ND4 CL E G H	4538	7459	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0000496	HP:0000590	Progressive external ophthalmoplegia	4	ND5 CL E G H	4540	7461	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0000496	HP:0000590	Progressive external ophthalmoplegia	4	ND6 CL E G H	4541	7462	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0000496	HP:0025331	Upgaze palsy	4	NEK9 CL E G H	91754	18591	OMIM:614262	Arthrogryposis, perthes disease, and upward gaze palsy			9
HP:0000496	HP:0000565	Esotropia	4	NEUROD2 CL E G H	4761	7763	OMIM:618374	Epileptic encephalopathy, early infantile, 72	.
HP:0000496	HP:0000565	Esotropia	4	NEXMIF CL E G H	340533	29433	OMIM:300912	Mental retardation, X-linked 98			52
HP:0000496	HP:0000565	Esotropia	4	NEXMIF CL E G H	340533	29433	ORPHA:85277	X-linked intellectual disability, Cantagrel type	HP:0040282 - Frequent		52
HP:0000496	HP:0000577	Exotropia	4	NGLY1 CL E G H	55768	17646	ORPHA:404454	Alacrimia-choreoathetosis-liver dysfunction syndrome	HP:0040284 - Very rare		32
HP:0000496	HP:0000577	Exotropia	4	NMNAT1 CL E G H	64802	17877	OMIM:619260	SPONDYLOEPIPHYSEAL DYSPLASIA, SENSORINEURAL HEARING LOSS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND LEBER CONGENITAL AMAUROSIS; SHILCA			15
HP:0000496	HP:0000577	Exotropia	4	NONO CL E G H	4841	7871	ORPHA:466791	Macrocephaly-intellectual disability-left ventricular non compaction syndrome			10
HP:0000496	HP:0000590	Progressive external ophthalmoplegia	4	NOTCH2NLC CL E G H	100996717	53924	ORPHA:98897	Oculopharyngodistal myopathy	HP:0040281 - Very frequent
HP:0000496	HP:0000565	Esotropia	4	NPAP1 CL E G H	23742	1190	OMIM:176270	Prader-Willi syndrome			1
HP:0000496	HP:0000565	Esotropia	4	NR2F1 CL E G H	7025	7975	ORPHA:401777	Optic atrophy-intellectual disability syndrome	HP:0040283 - Occasional		37
HP:0000496	HP:0000577	Exotropia	4	NR2F1 CL E G H	7025	7975	ORPHA:401777	Optic atrophy-intellectual disability syndrome	HP:0040283 - Occasional		37
HP:0000496	HP:0000565	Esotropia	4	NSD1 CL E G H	64324	14234	OMIM:117550	Sotos syndrome 1			544
HP:0000496	HP:0000565	Esotropia	4	NTNG2 CL E G H	84628	14288	OMIM:618718	NEURODEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES, ABSENT SPEECH, AND HYPOTONIA; NEDBASH
HP:0000496	HP:0007811	Horizontal pendular nystagmus	4	NUP62 CL E G H	23636	8066	ORPHA:225154	Familial infantile bilateral striatal necrosis	HP:0040282 - Frequent		7
HP:0000496	HP:0000577	Exotropia	4	OCA2 CL E G H	4948	8101	OMIM:203200	Albinism, oculocutaneous, type II	.		121
HP:0000496	HP:0000565	Esotropia	4	OFD1 CL E G H	8481	2567	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040282 - Frequent		201
HP:0000496	HP:0000590	Progressive external ophthalmoplegia	4	OPA1 CL E G H	4976	8140	ORPHA:1215	Autosomal dominant optic atrophy plus syndrome	HP:0040282 - Frequent		214
HP:0000496	HP:0009921	Duane anomaly	4	OPA1 CL E G H	4976	8140	ORPHA:98673	Autosomal dominant optic atrophy, classic form	HP:0040284 - Very rare		214
HP:0000496	HP:0000590	Progressive external ophthalmoplegia	4	OPA1 CL E G H	4976	8140	OMIM:165500	Optic atrophy 1			214
HP:0000496	HP:0000565	Esotropia	4	OVOL2 CL E G H	58495	15804	ORPHA:98973	Posterior polymorphous corneal dystrophy	HP:0040284 - Very rare		4
HP:0000496	HP:0000577	Exotropia	4	P4HTM CL E G H	54681	28858	OMIM:618493	Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities
HP:0000496	HP:0000577	Exotropia	4	PAX6 CL E G H	5080	8620	OMIM:106210	Aniridia			194
HP:0000496	HP:0007979	Gaze-evoked horizontal nystagmus	4	PAX7 CL E G H	5081	8621	OMIM:618578	MYOPATHY, CONGENITAL, PROGRESSIVE, WITH SCOLIOSIS; MYOSCO
HP:0000496	HP:0000565	Esotropia	4	PCDHGC4 CL E G H	56098	8717	OMIM:619880
HP:0000496	HP:0000577	Exotropia	4	PCDHGC4 CL E G H	56098	8717	OMIM:619880
HP:0000496	HP:0000565	Esotropia	4	PDE4D CL E G H	5144	8783	ORPHA:439822	PDE4D haploinsufficiency syndrome	HP:0040283 - Occasional		113
HP:0000496	HP:0000565	Esotropia	4	PDE6D CL E G H	5147	8788	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040282 - Frequent		1
HP:0000496	HP:0000565	Esotropia	4	PEX5 CL E G H	5830	9719	OMIM:202370	Peroxisome biogenesis disorder 2B	.		99
HP:0000496	HP:0000565	Esotropia	4	PGAP2 CL E G H	27315	17893	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional		8
HP:0000496	HP:0000565	Esotropia	4	PGAP3 CL E G H	93210	23719	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional		20
HP:0000496	HP:0000565	Esotropia	4	PHGDH CL E G H	26227	8923	ORPHA:79351	3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form	HP:0040282 - Frequent		37
HP:0000496	HP:0000577	Exotropia	4	PHOX2A CL E G H	401	691	OMIM:602078	Fibrosis of extraocular muscles, congenital, 2	.		6
HP:0000496	HP:0007936	Restrictive external ophthalmoplegia	4	PHOX2A CL E G H	401	691	OMIM:602078	Fibrosis of extraocular muscles, congenital, 2			6
HP:0000496	HP:0025584	Hypotropia	4	PHOX2A CL E G H	401	691	OMIM:602078	Fibrosis of extraocular muscles, congenital, 2	.		6
HP:0000496	HP:0025586	Hypertropia	4	PHOX2A CL E G H	401	691	OMIM:602078	Fibrosis of extraocular muscles, congenital, 2	.		6
HP:0000496	HP:0000565	Esotropia	4	PIDD1 CL E G H	55367	16491	OMIM:619827	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 75, WITH NEUROPSYCHIATRIC FEATURES AND VARIANT LISSENCEPHALY; MRT75
HP:0000496	HP:0009921	Duane anomaly	4	PIEZO2 CL E G H	63895	26270	OMIM:108145	Arthrogryposis, distal, type 5	.		77
HP:0000496	HP:0000565	Esotropia	4	PIGL CL E G H	9487	8966	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional		36
HP:0000496	HP:0000565	Esotropia	4	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome	HP:0040283 - Occasional		37
HP:0000496	HP:0000565	Esotropia	4	PIGO CL E G H	84720	23215	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional		84
HP:0000496	HP:0025330	Downgaze palsy	4	PIGT CL E G H	51604	14938	ORPHA:369837	Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome	HP:0040283 - Occasional		12
HP:0000496	HP:0000565	Esotropia	4	PIGT CL E G H	51604	14938	OMIM:615398	Multiple congenital anomalies-hypotonia-seizures syndrome 3	.		12
HP:0000496	HP:0000565	Esotropia	4	PIGV CL E G H	55650	26031	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional		57
HP:0000496	HP:0000565	Esotropia	4	PIGW CL E G H	284098	23213	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional		6
HP:0000496	HP:0000565	Esotropia	4	PIGY CL E G H	84992	28213	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional		2
HP:0000496	HP:0025331	Upgaze palsy	4	PLA2G6 CL E G H	8398	9039	ORPHA:35069	Infantile neuroaxonal dystrophy	HP:0040284 - Very rare		133
HP:0000496	HP:0010545	Downbeat nystagmus	4	PLA2G6 CL E G H	8398	9039	ORPHA:35069	Infantile neuroaxonal dystrophy	HP:0040284 - Very rare		133
HP:0000496	HP:0000565	Esotropia	4	PMM2 CL E G H	5373	9115	OMIM:212065	Congenital disorder of glycosylation, type Ia	.		150
HP:0000496	HP:0000565	Esotropia	4	PMM2 CL E G H	5373	9115	ORPHA:79318	PMM2-CDG	HP:0040282 - Frequent		150
HP:0000496	HP:0000577	Exotropia	4	POGZ CL E G H	23126	18801	OMIM:616364	White-Sutton syndrome			35
HP:0000496	HP:0000565	Esotropia	4	POLA1 CL E G H	5422	9173	OMIM:301030	Van esch-o'driscoll syndrome			2
HP:0000496	HP:0000590	Progressive external ophthalmoplegia	4	POLG CL E G H	5428	9179	OMIM:603041	Mitochondrial DNA depletion syndrome 1 (mngie type)	.		464
HP:0000496	HP:0000590	Progressive external ophthalmoplegia	4	POLG CL E G H	5428	9179	OMIM:613662	Mitochondrial DNA depletion syndrome 4B (mngie type)	.		464
HP:0000496	HP:0000590	Progressive external ophthalmoplegia	4	POLG CL E G H	5428	9179	OMIM:157640	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1	.		464
HP:0000496	HP:0000565	Esotropia	4	POLG CL E G H	5428	9179	OMIM:258450	Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive			464
HP:0000496	HP:0000590	Progressive external ophthalmoplegia	4	POLG CL E G H	5428	9179	OMIM:258450	Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive	.		464
HP:0000496	HP:0000590	Progressive external ophthalmoplegia	4	POLG CL E G H	5428	9179	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis	.		464
HP:0000496	HP:0025331	Upgaze palsy	4	POLG CL E G H	5428	9179	ORPHA:70595	Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome	HP:0040282 - Frequent		464
HP:0000496	HP:0000590	Progressive external ophthalmoplegia	4	POLG2 CL E G H	11232	9180	OMIM:610131	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4	.		45
HP:0000496	HP:0000577	Exotropia	4	POLRMT CL E G H	5442	9200	OMIM:619743	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55; COXPD55			1
HP:0000496	HP:0000590	Progressive external ophthalmoplegia	4	POLRMT CL E G H	5442	9200	OMIM:619743	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55; COXPD55			1
HP:0000496	HP:0000565	Esotropia	4	POU4F1 CL E G H	5457	9218	OMIM:619352	ATAXIA, INTENTION TREMOR, AND HYPOTONIA SYNDROME, CHILDHOOD-ONSET; ATITHS
HP:0000496	HP:0000565	Esotropia	4	PPP1R21 CL E G H	129285	30595	OMIM:619383	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES; NEDHFBA
HP:0000496	HP:0000565	Esotropia	4	PPP2R5D CL E G H	5528	9312	ORPHA:457279	Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome			10
HP:0000496	HP:0000565	Esotropia	4	PRKAR1B CL E G H	5575	9390	OMIM:619680	MARBACH-SCHAAF NEURODEVELOPMENTAL SYNDROME; MASNS			2
HP:0000496	HP:0000577	Exotropia	4	PRPS1 CL E G H	5631	9462	ORPHA:423479	X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome	HP:0040282 - Frequent		49
HP:0000496	HP:0000577	Exotropia	4	PRR12 CL E G H	57479	29217	OMIM:619539	NEUROOCULAR SYNDROME; NOC			1
HP:0000496	HP:0007979	Gaze-evoked horizontal nystagmus	4	PRRT2 CL E G H	112476	30500	ORPHA:569	Familial or sporadic hemiplegic migraine	HP:0040283 - Occasional		94
HP:0000496	HP:0012044	Seesaw nystagmus	4	PRRT2 CL E G H	112476	30500	ORPHA:569	Familial or sporadic hemiplegic migraine	HP:0040283 - Occasional		94
HP:0000496	HP:0000565	Esotropia	4	PTEN CL E G H	5728	9588	ORPHA:101070	Bilateral frontoparietal polymicrogyria	HP:0040282 - Frequent		948
HP:0000496	HP:0000577	Exotropia	4	PTRH2 CL E G H	51651	24265	ORPHA:456312	Infantile multisystem neurologic-endocrine-pancreatic disease	HP:0040282 - Frequent		6
HP:0000496	HP:0000577	Exotropia	4	PTRH2 CL E G H	51651	24265	OMIM:616263	Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset	.		6
HP:0000496	HP:0000577	Exotropia	4	PUF60 CL E G H	22827	17042	ORPHA:508488	8q24.3 microdeletion syndrome	HP:0040283 - Occasional		19
HP:0000496	HP:0000565	Esotropia	4	PUF60 CL E G H	22827	17042	ORPHA:508498	Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome	HP:0040283 - Occasional		19
HP:0000496	HP:0000565	Esotropia	4	PURA CL E G H	5813	9701	OMIM:616158	Mental retardation, autosomal dominant 31			53
HP:0000496	HP:0000565	Esotropia	4	PWAR1 CL E G H	145624	30089	OMIM:176270	Prader-Willi syndrome
HP:0000496	HP:0000565	Esotropia	4	PWRN1 CL E G H	791114	33235	OMIM:176270	Prader-Willi syndrome
HP:0000496	HP:0000565	Esotropia	4	PYCR2 CL E G H	29920	30262	ORPHA:481152	PYCR2-related microcephaly-progressive leukoencephalopathy	HP:0040283 - Occasional		11
HP:0000496	HP:0000577	Exotropia	4	PYROXD1 CL E G H	79912	26162	OMIM:617258	MYOPATHY, MYOFIBRILLAR, 8; MFM8			5
HP:0000496	HP:0007979	Gaze-evoked horizontal nystagmus	4	RBL2 CL E G H	5934	9894	OMIM:619690	BRUNET-WAGNER NEURODEVELOPMENTAL SYNDROME; BRUWAG
HP:0000496	HP:0000565	Esotropia	4	RERE CL E G H	473	9965	ORPHA:494344	RERE-related neurodevelopmental syndrome	HP:0040283 - Occasional		16
HP:0000496	HP:0000577	Exotropia	4	RERE CL E G H	473	9965	ORPHA:494344	RERE-related neurodevelopmental syndrome	HP:0040283 - Occasional		16
HP:0000496	HP:0010545	Downbeat nystagmus	4	RFC1 CL E G H	5981	9969	OMIM:614575	Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome
HP:0000496	HP:0000565	Esotropia	4	RNASEH1 CL E G H	246243	18466	ORPHA:329336	Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy	HP:0040283 - Occasional		3
HP:0000496	HP:0000590	Progressive external ophthalmoplegia	4	RNASEH1 CL E G H	246243	18466	ORPHA:329336	Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy	HP:0040280 - Obligate		3
HP:0000496	HP:0000590	Progressive external ophthalmoplegia	4	RNASEH1 CL E G H	246243	18466	OMIM:616479	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2	.		3
HP:0000496	HP:0000565	Esotropia	4	RNF113A CL E G H	7737	12974	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		3
HP:0000496	HP:0000577	Exotropia	4	RNF2 CL E G H	6045	10061	OMIM:619460	LUO-SCHOCH-YAMAMOTO SYNDROME; LUSYAM
HP:0000496	HP:0000565	Esotropia	4	ROBO3 CL E G H	64221	13433	OMIM:607313	Gaze palsy, familial horizontal, with progressive scoliosis, 1			90
HP:0000496	HP:0000565	Esotropia	4	RORA CL E G H	6095	10258	OMIM:618060	INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT EPILEPSY OR CEREBELLAR ATAXIA; IDDECA			1
HP:0000496	HP:0000577	Exotropia	4	RP1L1 CL E G H	94137	15946	OMIM:618826	RETINITIS PIGMENTOSA 88; RP88			284
HP:0000496	HP:0000577	Exotropia	4	RPE65 CL E G H	6121	10294	ORPHA:364055	Severe early-childhood-onset retinal dystrophy	HP:0040283 - Occasional		129
HP:0000496	HP:0000577	Exotropia	4	RPL10 CL E G H	6134	10298	ORPHA:459070	X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome	HP:0040283 - Occasional		10
HP:0000496	HP:0000565	Esotropia	4	RRAS2 CL E G H	22800	17271	OMIM:618624	NOONAN SYNDROME 12; NS12			1
HP:0000496	HP:0000565	Esotropia	4	RRM2B CL E G H	50484	17296	ORPHA:329336	Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy	HP:0040283 - Occasional		125
HP:0000496	HP:0000590	Progressive external ophthalmoplegia	4	RRM2B CL E G H	50484	17296	ORPHA:329336	Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy	HP:0040280 - Obligate		125
HP:0000496	HP:0000590	Progressive external ophthalmoplegia	4	RRM2B CL E G H	50484	17296	ORPHA:480	Kearns-Sayre syndrome	HP:0040281 - Very frequent		125
HP:0000496	HP:0000590	Progressive external ophthalmoplegia	4	RRM2B CL E G H	50484	17296	OMIM:613077	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5	.		125
HP:0000496	HP:0000565	Esotropia	4	RTL1 CL E G H	388015	14665	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion	HP:0040283 - Occasional
HP:0000496	HP:0007979	Gaze-evoked horizontal nystagmus	4	SACS CL E G H	26278	10519	ORPHA:98	Autosomal recessive spastic ataxia of Charlevoix-Saguenay	HP:0040282 - Frequent		309
HP:0000496	HP:0009921	Duane anomaly	4	SALL1 CL E G H	6299	10524	OMIM:107480	Townes-Brocks syndrome 1	HP:0040283 - Occasional		124
HP:0000496	HP:0000565	Esotropia	4	SALL2 CL E G H	6297	10526	OMIM:216820	COLOBOMA, OCULAR, AUTOSOMAL RECESSIVE			1
HP:0000496	HP:0000577	Exotropia	4	SALL2 CL E G H	6297	10526	OMIM:216820	COLOBOMA, OCULAR, AUTOSOMAL RECESSIVE			1
HP:0000496	HP:0025586	Hypertropia	4	SALL2 CL E G H	6297	10526	OMIM:216820	COLOBOMA, OCULAR, AUTOSOMAL RECESSIVE			1
HP:0000496	HP:0009921	Duane anomaly	4	SALL4 CL E G H	57167	15924	OMIM:607323	Duane-Radial ray syndrome			86
HP:0000496	HP:0010533	Spasmus nutans	4	SCN1A CL E G H	6323	10585	OMIM:619317	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 6B; DEE6B			1053
HP:0000496	HP:0007979	Gaze-evoked horizontal nystagmus	4	SCN1A CL E G H	6323	10585	ORPHA:569	Familial or sporadic hemiplegic migraine	HP:0040283 - Occasional		1053
HP:0000496	HP:0012044	Seesaw nystagmus	4	SCN1A CL E G H	6323	10585	ORPHA:569	Familial or sporadic hemiplegic migraine	HP:0040283 - Occasional		1053
HP:0000496	HP:0025312	Esophoria	4	SCN8A CL E G H	6334	10596	OMIM:614306	Cognitive impairment with or without cerebellar ataxia	HP:0040283 - Occasional		357
HP:0000496	HP:0000577	Exotropia	4	SCO2 CL E G H	9997	10604	ORPHA:521411	Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect	HP:0040282 - Frequent		40
HP:0000496	HP:0000577	Exotropia	4	SCO2 CL E G H	9997	10604	OMIM:604377	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1			40
HP:0000496	HP:0000565	Esotropia	4	SEC23A CL E G H	10484	10701	OMIM:607812	Craniolenticulosutural dysplasia	HP:0040283 - Occasional		2
HP:0000496	HP:0000565	Esotropia	4	SIAH1 CL E G H	6477	10857	OMIM:619314	BURATTI-HAREL SYNDROME; BURHAS
HP:0000496	HP:0000577	Exotropia	4	SIAH1 CL E G H	6477	10857	OMIM:619314	BURATTI-HAREL SYNDROME; BURHAS
HP:0000496	HP:0000565	Esotropia	4	SLC12A6 CL E G H	9990	10914	OMIM:218000	Agenesis of the corpus callosum with peripheral neuropathy			163
HP:0000496	HP:0000577	Exotropia	4	SLC17A5 CL E G H	26503	10933	OMIM:604369	Salla disease	.		78
HP:0000496	HP:0000565	Esotropia	4	SLC18A3 CL E G H	6572	10936	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040284 - Very rare		2
HP:0000496	HP:0000565	Esotropia	4	SLC1A3 CL E G H	6507	10941	ORPHA:2131	Alternating hemiplegia of childhood	HP:0040282 - Frequent		63
HP:0000496	HP:0000577	Exotropia	4	SLC1A3 CL E G H	6507	10941	ORPHA:2131	Alternating hemiplegia of childhood	HP:0040282 - Frequent		63
HP:0000496	HP:0000565	Esotropia	4	SLC25A1 CL E G H	6576	10979	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040284 - Very rare		28
HP:0000496	HP:0000590	Progressive external ophthalmoplegia	4	SLC25A4 CL E G H	291	10990	OMIM:609283	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2			68
HP:0000496	HP:0000577	Exotropia	4	SLC25A46 CL E G H	91137	25198	OMIM:616505	Neuropathy, hereditary motor and sensory, type VIB	.		14
HP:0000496	HP:0000565	Esotropia	4	SLC25A46 CL E G H	91137	25198	ORPHA:2254	Pontocerebellar hypoplasia type 1			14
HP:0000496	HP:0000577	Exotropia	4	SLC35A2 CL E G H	7355	11022	ORPHA:356961	SLC35A2-CDG	HP:0040283 - Occasional		27
HP:0000496	HP:0000565	Esotropia	4	SLC38A8 CL E G H	146167	32434	OMIM:609218	Foveal hypoplasia 2			13
HP:0000496	HP:0000565	Esotropia	4	SLC5A7 CL E G H	60482	14025	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040284 - Very rare		9
HP:0000496	HP:0000577	Exotropia	4	SLC6A8 CL E G H	6535	11055	OMIM:300352	Creatine deficiency syndrome, X-linked	.		122
HP:0000496	HP:0000577	Exotropia	4	SMAD3 CL E G H	4088	6769	OMIM:613795	LOEYS-DIETZ SYNDROME 3; LDS3			260
HP:0000496	HP:0000565	Esotropia	4	SNAP25 CL E G H	6616	11132	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040284 - Very rare		2
HP:0000496	HP:0000565	Esotropia	4	SNORD115-1 CL E G H	338433	33020	OMIM:176270	Prader-Willi syndrome
HP:0000496	HP:0000565	Esotropia	4	SNORD116-1 CL E G H	100033413	33067	OMIM:176270	Prader-Willi syndrome
HP:0000496	HP:0000577	Exotropia	4	SNRPN CL E G H	6638	11164	OMIM:105830	Angelman syndrome	.		37
HP:0000496	HP:0000565	Esotropia	4	SOBP CL E G H	55084	29256	OMIM:613671	Mental retardation, anterior maxillary protrusion, and strabismus	HP:0040283 - Occasional		29
HP:0000496	HP:0000565	Esotropia	4	SON CL E G H	6651	11183	ORPHA:500150	Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome	HP:0040283 - Occasional		12
HP:0000496	HP:0000577	Exotropia	4	SON CL E G H	6651	11183	ORPHA:500150	Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome	HP:0040283 - Occasional		12
HP:0000496	HP:0000565	Esotropia	4	SOST CL E G H	50964	13771	OMIM:269500	Sclerosteosis 1	.		26
HP:0000496	HP:0007979	Gaze-evoked horizontal nystagmus	4	SOX3 CL E G H	6658	11199	ORPHA:67045	X-linked intellectual disability with isolated growth hormone deficiency	HP:0040283 - Occasional		24
HP:0000496	HP:0000577	Exotropia	4	SOX5 CL E G H	6660	11201	ORPHA:313892	Developmental and speech delay due to SOX5 deficiency	HP:0040282 - Frequent		11
HP:0000496	HP:0000577	Exotropia	4	SPATA7 CL E G H	55812	20423	ORPHA:364055	Severe early-childhood-onset retinal dystrophy	HP:0040283 - Occasional		48
HP:0000496	HP:0000565	Esotropia	4	SREBF1 CL E G H	6720	11289	OMIM:158310	Mucoepithelial dysplasia, hereditary	.		1
HP:0000496	HP:0000565	Esotropia	4	SYT1 CL E G H	6857	11509	ORPHA:522077	Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome	HP:0040282 - Frequent		1
HP:0000496	HP:0007979	Gaze-evoked horizontal nystagmus	4	SYT14 CL E G H	255928	23143	ORPHA:284271	Autosomal recessive cerebellar ataxia-psychomotor delay syndrome	HP:0040282 - Frequent		4
HP:0000496	HP:0000565	Esotropia	4	SYT2 CL E G H	127833	11510	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040284 - Very rare		4
HP:0000496	HP:0000577	Exotropia	4	TAF2 CL E G H	6873	11536	ORPHA:397951	Microcephaly-thin corpus callosum-intellectual disability syndrome	HP:0040283 - Occasional		7
HP:0000496	HP:0000565	Esotropia	4	TARS1 CL E G H	6897	11572	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional
HP:0000496	HP:0000565	Esotropia	4	TBC1D23 CL E G H	55773	25622	OMIM:617695	Pontocerebellar hypoplasia, type 11	.
HP:0000496	HP:0000565	Esotropia	4	TBC1D2B CL E G H	23102	29183	ORPHA:397973	Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome	HP:0040282 - Frequent
HP:0000496	HP:0000565	Esotropia	4	TBX1 CL E G H	6899	11592	OMIM:188400	Digeorge syndrome	.		32
HP:0000496	HP:0000577	Exotropia	4	TBX1 CL E G H	6899	11592	OMIM:188400	Digeorge syndrome	.		32
HP:0000496	HP:0025312	Esophoria	4	TBX1 CL E G H	6899	11592	OMIM:188400	Digeorge syndrome	.		32
HP:0000496	HP:0000565	Esotropia	4	TCTN3 CL E G H	26123	24519	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040282 - Frequent		31
HP:0000496	HP:0000565	Esotropia	4	TENM3 CL E G H	55714	29944	OMIM:615145	Microphthalmia, isolated, with coloboma 9	.		12
HP:0000496	HP:0000577	Exotropia	4	TGFBR1 CL E G H	7046	11772	OMIM:609192	Loeys-Dietz syndrome 1			239
HP:0000496	HP:0000577	Exotropia	4	TGFBR2 CL E G H	7048	11773	OMIM:610168	Loeys-Dietz syndrome 2			253
HP:0000496	HP:0007979	Gaze-evoked horizontal nystagmus	4	THG1L CL E G H	54974	26053	OMIM:618800	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 28; SCAR28
HP:0000496	HP:0000577	Exotropia	4	THOC2 CL E G H	57187	19073	OMIM:300957	Mental retardation, X-linked 12/35			5
HP:0000496	HP:0000590	Progressive external ophthalmoplegia	4	TK2 CL E G H	7084	11831	ORPHA:254875	Mitochondrial DNA depletion syndrome, myopathic form	HP:0040283 - Occasional		103
HP:0000496	HP:0000590	Progressive external ophthalmoplegia	4	TK2 CL E G H	7084	11831	OMIM:617069	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3	.		103
HP:0000496	HP:0007811	Horizontal pendular nystagmus	4	TMEM106B CL E G H	54664	22407	OMIM:617964	Leukodystrophy, hypomyelinating, 16
HP:0000496	HP:0000565	Esotropia	4	TMEM216 CL E G H	51259	25018	OMIM:608091	Joubert syndrome 2	.		45
HP:0000496	HP:0000565	Esotropia	4	TMEM216 CL E G H	51259	25018	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040282 - Frequent		45
HP:0000496	HP:0000577	Exotropia	4	TMEM231 CL E G H	79583	37234	ORPHA:2752	Orofaciodigital syndrome type 3	HP:0040282 - Frequent		33
HP:0000496	HP:0012044	Seesaw nystagmus	4	TMEM231 CL E G H	79583	37234	ORPHA:2752	Orofaciodigital syndrome type 3	HP:0040283 - Occasional		33
HP:0000496	HP:0000577	Exotropia	4	TMEM67 CL E G H	91147	28396	OMIM:602152	Rhyns syndrome	.		166
HP:0000496	HP:0000590	Progressive external ophthalmoplegia	4	TOP3A CL E G H	7156	11992	OMIM:618098	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5	.
HP:0000496	HP:0000565	Esotropia	4	TOPORS CL E G H	10210	21653	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040282 - Frequent		61
HP:0000496	HP:0025313	Exophoria	4	TRAPPC11 CL E G H	60684	25751	ORPHA:369840	TRAPPC11-related limb-girdle muscular dystrophy R18	HP:0040283 - Occasional		27
HP:0000496	HP:0000565	Esotropia	4	TRIT1 CL E G H	54802	20286	OMIM:617873	Combined oxidative phosphorylation deficiency 35	.		12
HP:0000496	HP:0000590	Progressive external ophthalmoplegia	4	TRNF CL E G H	4558	7481	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0000496	HP:0000590	Progressive external ophthalmoplegia	4	TRNH CL E G H	4564	7487	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0000496	HP:0000590	Progressive external ophthalmoplegia	4	TRNK CL E G H	4566	7489	ORPHA:1349	Mitochondrial DNA-related cardiomyopathy and hearing loss	HP:0040282 - Frequent
HP:0000496	HP:0000590	Progressive external ophthalmoplegia	4	TRNL1 CL E G H	4567	7490	ORPHA:480	Kearns-Sayre syndrome	HP:0040281 - Very frequent
HP:0000496	HP:0000590	Progressive external ophthalmoplegia	4	TRNL1 CL E G H	4567	7490	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0000496	HP:0000590	Progressive external ophthalmoplegia	4	TRNL1 CL E G H	4567	7490	ORPHA:663	Mitochondrial DNA-related progressive external ophthalmoplegia	HP:0040281 - Very frequent
HP:0000496	HP:0000590	Progressive external ophthalmoplegia	4	TRNL2 CL E G H	4568	7491	ORPHA:663	Mitochondrial DNA-related progressive external ophthalmoplegia	HP:0040281 - Very frequent
HP:0000496	HP:0000590	Progressive external ophthalmoplegia	4	TRNN CL E G H	4570	7493	ORPHA:663	Mitochondrial DNA-related progressive external ophthalmoplegia	HP:0040281 - Very frequent
HP:0000496	HP:0000590	Progressive external ophthalmoplegia	4	TRNQ CL E G H	4572	7495	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0000496	HP:0000590	Progressive external ophthalmoplegia	4	TRNS1 CL E G H	4574	7497	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0000496	HP:0000590	Progressive external ophthalmoplegia	4	TRNS1 CL E G H	4574	7497	ORPHA:663	Mitochondrial DNA-related progressive external ophthalmoplegia	HP:0040281 - Very frequent
HP:0000496	HP:0000590	Progressive external ophthalmoplegia	4	TRNS2 CL E G H	4575	7498	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0000496	HP:0000590	Progressive external ophthalmoplegia	4	TRNT CL E G H	4576	7499	ORPHA:254857	Lethal infantile mitochondrial myopathy	HP:0040282 - Frequent
HP:0000496	HP:0000590	Progressive external ophthalmoplegia	4	TRNW CL E G H	4578	7501	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0000496	HP:0000565	Esotropia	4	TUBB3 CL E G H	10381	20772	ORPHA:300570	Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation	HP:0040282 - Frequent		64
HP:0000496	HP:0000577	Exotropia	4	TUBB3 CL E G H	10381	20772	OMIM:600638	Fibrosis of extraocular muscles, congenital, 3A, with or without extraocularinvolvement	.		64
HP:0000496	HP:0007831	Nonprogressive restrictive external ophthalmoplegia	4	TUBB3 CL E G H	10381	20772	OMIM:600638	Fibrosis of extraocular muscles, congenital, 3A, with or without extraocularinvolvement	.		64
HP:0000496	HP:0000590	Progressive external ophthalmoplegia	4	TWNK CL E G H	56652	1160	OMIM:609286	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3			113
HP:0000496	HP:0000590	Progressive external ophthalmoplegia	4	TWNK CL E G H	56652	1160	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis	.		113
HP:0000496	HP:0025331	Upgaze palsy	4	TWNK CL E G H	56652	1160	ORPHA:70595	Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome	HP:0040282 - Frequent		113
HP:0000496	HP:0000590	Progressive external ophthalmoplegia	4	TYMP CL E G H	1890	3148	OMIM:603041	Mitochondrial DNA depletion syndrome 1 (mngie type)	.		138
HP:0000496	HP:0000577	Exotropia	4	TYR CL E G H	7299	12442	OMIM:203100	Albinism, oculocutaneous, type IA	.		146
HP:0000496	HP:0009921	Duane anomaly	4	UBA2 CL E G H	10054	30661	OMIM:619959
HP:0000496	HP:0000577	Exotropia	4	UBE3A CL E G H	7337	12496	OMIM:105830	Angelman syndrome	.		278
HP:0000496	HP:0000565	Esotropia	4	UFSP2 CL E G H	55325	25640	OMIM:620028				2
HP:0000496	HP:0000577	Exotropia	4	UFSP2 CL E G H	55325	25640	OMIM:620028				2
HP:0000496	HP:0000565	Esotropia	4	UNC80 CL E G H	285175	26582	OMIM:616801	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2			23
HP:0000496	HP:0000565	Esotropia	4	UNC80 CL E G H	285175	26582	ORPHA:371364	Hypotonia-speech impairment-severe cognitive delay syndrome	HP:0040281 - Very frequent		23
HP:0000496	HP:0007979	Gaze-evoked horizontal nystagmus	4	UROC1 CL E G H	131669	26444	ORPHA:210128	Urocanic aciduria	HP:0040281 - Very frequent		8
HP:0000496	HP:0000565	Esotropia	4	USP7 CL E G H	7874	12630	ORPHA:500055	16p13.2 microdeletion syndrome	HP:0040282 - Frequent		2
HP:0000496	HP:0000565	Esotropia	4	VAMP1 CL E G H	6843	12642	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040284 - Very rare		2
HP:0000496	HP:0000590	Progressive external ophthalmoplegia	4	VARS2 CL E G H	57176	21642	OMIM:615917	Combined oxidative phosphorylation deficiency 20	HP:0040283 - Occasional		56
HP:0000496	HP:0025331	Upgaze palsy	4	VPS13A CL E G H	23230	1908	ORPHA:2388	Choreoacanthocytosis	HP:0040283 - Occasional		130
HP:0000496	HP:0000565	Esotropia	4	VRK1 CL E G H	7443	12718	ORPHA:2254	Pontocerebellar hypoplasia type 1			32
HP:0000496	HP:0000565	Esotropia	4	VSX1 CL E G H	30813	12723	ORPHA:98973	Posterior polymorphous corneal dystrophy	HP:0040284 - Very rare		47
HP:0000496	HP:0000577	Exotropia	4	WARS2 CL E G H	10352	12730	OMIM:617710	Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures	.		2
HP:0000496	HP:0000577	Exotropia	4	WARS2 CL E G H	10352	12730	ORPHA:572798	WARS2-related combined oxidative phosphorylation defect	HP:0040283 - Occasional		2
HP:0000496	HP:0000577	Exotropia	4	WT1 CL E G H	7490	12796	OMIM:106210	Aniridia			177
HP:0000496	HP:0000577	Exotropia	4	ZC4H2 CL E G H	55906	24931	OMIM:314580	Wieacker-Wolff syndrome	.		19
HP:0000496	HP:0000565	Esotropia	4	ZEB1 CL E G H	6935	11642	ORPHA:98973	Posterior polymorphous corneal dystrophy	HP:0040284 - Very rare		8
HP:0000496	HP:0000565	Esotropia	4	ZEB2 CL E G H	9839	14881	OMIM:235730	Mowat-Wilson syndrome	.		362
HP:0000496	HP:0009921	Duane anomaly	4	ZMIZ1 CL E G H	57178	16493	OMIM:618659	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES; NEDDFSA
HP:0000496	HP:0000565	Esotropia	4	ZSWIM6 CL E G H	57688	29316	OMIM:617865	Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features	.		5
HP:0000496	HP:0007867	Restrictive partial external ophthalmoplegia	5	CL E G H
HP:0000496	HP:0031714	Distance exotropia	5	CL E G H
HP:0000496	HP:0031715	Near exotropia	5	CL E G H
HP:0000496	HP:0031716	Cyclic exotropia	5	CL E G H
HP:0000496	HP:0031718	Consecutive exotropia	5	CL E G H
HP:0000496	HP:0031726	Incyclotropia	5	CL E G H
HP:0000496	HP:0031727	Excyclotropia	5	CL E G H
HP:0000496	HP:0031760	Non-accomodative esotropia	5	CL E G H
HP:0000496	HP:0031767	Consecutive esotropia	5	CL E G H
HP:0000496	HP:0031778	Incyclophoria	5	CL E G H
HP:0000496	HP:0031779	Excyclophoria	5	CL E G H
HP:0000496	HP:0031781	Microtropia with identity	5	CL E G H
HP:0000496	HP:0031782	Microtropia without identity	5	CL E G H
HP:0000496	HP:0500076	Alternating hypertropia	5	CL E G H
HP:0000496	HP:0500077	Alternating hyperphoria	5	CL E G H
HP:0000496	HP:0500078	Alternating hypotropia	5	CL E G H
HP:0000496	HP:0500079	Alternating hypophoria	5	CL E G H
HP:0000496	HP:0031717	Alternating exotropia	5	ALDH3A2 CL E G H	224	403	OMIM:270200	Sjogren-Larsson syndrome			87
HP:0000496	HP:0001137	Alternating esotropia	5	APC CL E G H	324	583	ORPHA:99818	Turcot syndrome with polyposis	HP:0040283 - Occasional		3179
HP:0000496	HP:0020046	Accommodative esotropia	5	ARPC4 CL E G H	10093	707	OMIM:620141
HP:0000496	HP:0001137	Alternating esotropia	5	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0000496	HP:0001137	Alternating esotropia	5	CLCN6 CL E G H	1185	2024	OMIM:619173	NEURODEGENERATION, CHILDHOOD-ONSET, WITH HYPOTONIA, RESPIRATORY INSUFFICIENCY, AND BRAIN IMAGING ABNORMALITIES; CONRIBA
HP:0000496	HP:0001137	Alternating esotropia	5	COG8 CL E G H	84342	18623	ORPHA:95428	COG8-CDG	HP:0040283 - Occasional		39
HP:0000496	HP:0001137	Alternating esotropia	5	COG8 CL E G H	84342	18623	OMIM:611182	Congenital disorder of glycosylation, type IIh			39
HP:0000496	HP:0001137	Alternating esotropia	5	DPP6 CL E G H	1804	3010	ORPHA:2514	Autosomal dominant primary microcephaly	HP:0040282 - Frequent		18
HP:0000496	HP:0031717	Alternating exotropia	5	FBXW11 CL E G H	23291	13607	OMIM:618914	NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME; NEDJED
HP:0000496	HP:0031717	Alternating exotropia	5	GALNT2 CL E G H	2590	4124	OMIM:618885	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt; CDG2T
HP:0000496	HP:0031717	Alternating exotropia	5	H4C5 CL E G H	8367	4790	OMIM:619950
HP:0000496	HP:0031721	Sensory exotropia	5	KIF21A CL E G H	55605	19349	OMIM:135700	Fibrosis of extraocular muscles, congenital, 1	.		93
HP:0000496	HP:0031723	Secondary esotropia	5	KIF21A CL E G H	55605	19349	OMIM:135700	Fibrosis of extraocular muscles, congenital, 1	.		93
HP:0000496	HP:0001137	Alternating esotropia	5	LMBRD2 CL E G H	92255	25287	OMIM:619694	DEVELOPMENTAL DELAY WITH VARIABLE NEUROLOGIC AND BRAIN ABNORMALITIES; DENBA
HP:0000496	HP:0001137	Alternating esotropia	5	LMNB1 CL E G H	4001	6637	ORPHA:2514	Autosomal dominant primary microcephaly	HP:0040282 - Frequent		44
HP:0000496	HP:0020046	Accommodative esotropia	5	MED12 CL E G H	9968	11957	OMIM:301068	HARDIKAR SYNDROME; HDKR			228
HP:0000496	HP:0031713	Constant exotropia	5	NONO CL E G H	4841	7871	ORPHA:466791	Macrocephaly-intellectual disability-left ventricular non compaction syndrome			10
HP:0000496	HP:0001137	Alternating esotropia	5	PPP2R5D CL E G H	5528	9312	ORPHA:457279	Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome	HP:0040284 - Very rare		10
HP:0000496	HP:0001137	Alternating esotropia	5	SLC38A8 CL E G H	146167	32434	OMIM:609218	Foveal hypoplasia 2	HP:0040283 - Occasional		13
HP:0000496	HP:0020046	Accommodative esotropia	5	TBX1 CL E G H	6899	11592	OMIM:188400	Digeorge syndrome	.		32
HP:0000496	HP:0031719	True distance exotropia	6	CL E G H
HP:0000496	HP:0031720	Simulated distance exotropia	6	CL E G H
HP:0000496	HP:0031722	Near esotropia	6	CL E G H
HP:0000496	HP:0031759	Basic constant esotropia	6	CL E G H
HP:0000496	HP:0031761	Infantile constant esotropia	6	CL E G H
HP:0000496	HP:0031762	Distance esotropia	6	CL E G H
HP:0000496	HP:0031763	Cyclic esotropia	6	CL E G H
HP:0000496	HP:0031764	Fully accomodative esotropia	6	CL E G H
HP:0000496	HP:0031765	Partially accomodative esotropia	6	CL E G H
HP:0000496	HP:0032010	Basic constant exotropia	6	CL E G H
HP:0000496	HP:0031766	Convergence excess esotropia	6	MED12 CL E G H	9968	11957	OMIM:301068	HARDIKAR SYNDROME; HDKR			228
HP:0000496	HP:0032009	Infantile constant exotropia	6	NONO CL E G H	4841	7871	ORPHA:466791	Macrocephaly-intellectual disability-left ventricular non compaction syndrome	HP:0040283 - Occasional		10

Genes (1751) :AARS1 AARS2 AASS ABCA4 ABCA7 ABCB7 ABCC8 ABCC9 ABCD1 ABHD12 ABHD5 ACADS ACADSB ACBD5 ACKR3 ACO2 ACOX1 ACOX2 ACSL4 ACTA1 ACTL6B ACTN2 ADA2 ADAMTSL4 ADAR ADARB1 ADAT3 ADD3 ADGRG1 ADGRV1 ADNP ADORA2A ADPRS ADSL AEBP1 AFF3 AFF4 AFG3L2 AGBL5 AGK AGO2 AGRN AGTPBP1 AHCY AHDC1 AHI1 AHR AIFM1 AIMP1 AIP AIPL1 AK9 AKT1 AKT3 ALDH18A1 ALDH1A3 ALDH3A2 ALDH4A1 ALDH5A1 ALDH7A1 ALG1 ALG11 ALG12 ALG13 ALG2 ALG3 ALG6 ALG8 ALG9 ALMS1 ALS2 ALX3 ALX4 AMMECR1 ANAPC7 ANGPTL6 ANK1 ANKRD11 ANKRD17 ANO10 ANOS1 ANTXR1 AP1G1 AP1S2 AP3B1 AP3B2 AP3D1 AP4B1 AP4E1 AP4M1 AP4S1 APC APC2 APP APTX ARCN1 ARHGAP31 ARHGEF18 ARHGEF2 ARID1A ARID1B ARID2 ARL13B ARL2BP ARL3 ARL6 ARMC9 ARNT2 ARPC4 ARV1 ARVCF ARX ASAH1 ASCL1 ASH1L ASPA ASXL1 ASXL3 ATAD3A ATCAY ATF6 ATG5 ATG7 ATM ATN1 ATOH7 ATP13A2 ATP1A2 ATP1A3 ATP2B3 ATP5F1A ATP5MK ATP6 ATP6V0A2 ATP6V1A ATP6V1B2 ATP6V1E1 ATP8 ATP8A2 ATR ATRX ATXN1 ATXN10 ATXN2 ATXN3 ATXN7 ATXN8 ATXN8OS AUTS2 B3GALNT2 B3GAT3 B3GLCT B4GALNT1 B9D1 B9D2 BAP1 BAZ1B BBIP1 BBS1 BBS10 BBS12 BBS2 BBS4 BBS5 BBS7 BBS9 BCAP31 BCAS3 BCL11A BCL7B BCOR BCORL1 BCR BDNF BEAN1 BEST1 BICRA BIN1 BLOC1S3 BLOC1S5 BLOC1S6 BLTP1 BMP4 BPTF BRAF BRAT1 BRCA1 BRCA2 BRD4 BRF1 BRIP1 BRPF1 BUB1B BUD23 C19ORF12 C1QBP C9ORF72 CA4 CA8 CABP4 CACNA1A CACNA1B CACNA1E CACNA1F CACNA1G CACNA1H CACNA1S CACNA2D1 CACNA2D2 CACNA2D4 CACNB4 CAMK2A CAMK2B CAMK2G CAMTA1 CAPN1 CARS1 CASK CASZ1 CAV1 CBL CBY1 CC2D2A CCDC141 CCDC174 CCDC28B CCDC88C CCNQ CD96 CDC42 CDC42BPB CDC45 CDCA7 CDH11 CDH2 CDH23 CDH3 CDHR1 CDK13 CDK19 CDK8 CDKL5 CDON CELF2 CENPE CENPJ CEP104 CEP120 CEP152 CEP164 CEP19 CEP290 CEP41 CEP78 CEP83 CEP85L CERKL CERS1 CFAP410 CFAP418 CHAMP1 CHAT CHCHD10 CHD3 CHD7 CHKA CHMP1A CHN1 CHP1 CHRNA1 CHRNA7 CHRNB1 CHRND CHRNE CHRNG CHST14 CHST3 CILK1 CISD2 CLCN2 CLCN3 CLCN4 CLCN6 CLCN7 CLDN11 CLDN16 CLDN19 CLIP2 CLN3 CLN5 CLP1 CLPB CLRN1 CLTC CLTCL1 CLTRN CNGA1 CNGA3 CNGB1 CNGB3 CNKSR2 CNNM4 CNOT3 CNTNAP2 COG4 COG5 COG8 COL11A1 COL11A2 COL12A1 COL13A1 COL18A1 COL1A2 COL25A1 COL2A1 COL3A1 COL4A1 COL4A2 COL6A1 COL6A2 COL6A3 COL8A2 COLEC11 COLQ COMT COQ2 COQ5 COQ8A COX1 COX10 COX15 COX16 COX2 COX3 CP CPLANE1 CPLX1 CPSF3 CRB1 CREBBP CRIPT CRKL CRX CRYAA CRYBA4 CRYBB1 CRYBB2 CRYGC CRYGD CSF1R CSPP1 CTBP1 CTCF CTDP1 CTNNB1 CTSK CWF19L1 CYB5A CYB5R3 CYFIP2 CYP1B1 CYP27A1 CYP7B1 CYTB DAB1 DACT1 DALRD3 DARS1 DARS2 DCC DCN DCT DCTN1 DCX DDB1 DDB2 DDHD2 DDOST DDX3X DDX59 DDX6 DEAF1 DEGS1 DGUOK DHCR24 DHCR7 DHDDS DHODH DHX16 DHX30 DHX37 DHX38 DISP1 DKC1 DKK1 DLAT DLG3 DLG4 DLK1 DLL1 DLL4 DMXL2 DNA2 DNAJC12 DNAJC30 DNAJC6 DNM1 DNM1L DNM2 DNMBP DNMT1 DNMT3A DOCK6 DOHH DOK7 DOLK DPAGT1 DPF2 DPM1 DPM2 DPP6 DPYD DPYSL5 DSE DTNBP1 DUSP6 DVL1 DVL3 DYNC2LI1 DYRK1A EARS2 EBF3 EBP ECHS1 EDEM3 EDNRB EEF1A2 EEF2 EFHC1 EFNB1 EGR2 EIF2AK2 EIF2AK3 EIF2S3 EIF3F EIF4H ELN ELOVL1 ELOVL4 ELOVL5 EMC1 EMC10 ENG EOGT EP300 EPG5 EPRS1 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6 ERCC8 ERF ERLIN2 ERMARD ESCO2 EVC EVC2 EXOC8 EXOSC1 EXOSC2 EXOSC3 EXOSC5 EXOSC8 EXOSC9 EXT2 EXTL3 EYS EZH2 FA2H FAM149B1 FAM161A FAM50A FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FAR1 FARS2 FASTKD2 FAT2 FBLN5 FBN1 FBXL3 FBXL4 FBXO11 FBXO28 FBXO7 FBXW11 FBXW7 FCSK FDX2 FDXR FEZF1 FGD1 FGF10 FGF12 FGF13 FGF14 FGF17 FGF3 FGF8 FGFR1 FGFR2 FGFR3 FGFRL1 FIBP FIG4 FKBP6 FKRP FKTN FLI1 FLII FLNA FLRT1 FLRT3 FMR1 FN1 FOCAD FOXC1 FOXE3 FOXH1 FOXL2 FOXP1 FOXRED1 FRG1 FRMD4A FRMD5 FRMD7 FRMPD4 FRRS1L FSCN2 FTL FUS FUZ FXN FZD2 FZD4 FZR1 GABBR2 GABRA1 GABRA2 GABRA3 GABRA5 GABRB2 GABRB3 GABRD GABRG2 GALC GALNT2 GAN GAS1 GATA1 GATA3 GATA4 GATAD2B GBA1 GBA2 GCH1 GDAP2 GDF3 GDF5 GDF6 GFAP GFER GFM1 GFPT1 GGCX GGT1 GIPC1 GJA1 GJA5 GJA8 GJB1 GJB6 GJC2 GK GLI1 GLI2 GLRB GLRX5 GM2A GMNN GMPPA GMPPB GNA14 GNAO1 GNAQ GNAS GNAT1 GNAT2 GNB1 GNB2 GNB3 GNB5 GP1BB GPAA1 GPR143 GPR179 GRHL2 GRIA1 GRIA4 GRID2 GRIK2 GRIN1 GRIN2A GRIN2D GRK1 GRM1 GRM6 GRM7 GTF2E2 GTF2H5 GTF2I GTF2IRD1 GTF2IRD2 GUCA1B GUCY2D H1-4 H3-3A H4C11 H4C3 H4C5 H4C9 HACD1 HACE1 HADHA HARS1 HCN1 HDAC8 HECW2 HERC2 HESX1 HGSNAT HHAT HIBCH HID1 HIKESHI HIRA HK1 HLA-B HLA-DQB1 HLA-DRB1 HMGB3 HMX1 HNRNPH1 HNRNPH2 HNRNPR HNRNPU HOXA1 HOXA13 HOXB1 HPDL HPS1 HPS3 HPS4 HPS5 HPS6 HRAS HS6ST1 HSD17B10 HSD17B4 HSPD1 HSPG2 HTRA1 HTT HUWE1 HYLS1 IARS2 IBA57 IDH1 IDH3A IDH3B IFIH1 IFRD1 IFT122 IFT140 IFT172 IFT27 IFT43 IFT52 IFT74 IFT88 IGBP1 IGF1R IKBKG IL17RD IL1RAPL1 IMPDH1 IMPDH2 IMPG1 IMPG2 INPP5E INPP5K INTS1 IPO8 IPW IQCB1 IQSEC2 IRF2BPL ISCA2 ISCU ITGA7 ITPR1 JAG1 JAM2 JMJD1C JRK KANK1 KANSL1 KARS1 KAT5 KAT6A KAT8 KATNIP KCNA1 KCNA2 KCNAB2 KCNB1 KCNC3 KCND3 KCNE5 KCNH1 KCNJ13 KCNJ18 KCNJ6 KCNK4 KCNMA1 KCNN2 KCNQ3 KCNV2 KDM1A KDM5B KDM5C KDM6A KDM6B KIAA0586 KIAA0753 KIAA1549 KIDINS220 KIF11 KIF14 KIF15 KIF1A KIF1B KIF1C KIF21A KIF22 KIF2A KIF5A KIF7 KIZ KLC2 KLF13 KLHL40 KLHL41 KLHL7 KMT2A KMT2B KMT2D KRAS KRT10 KRT14 KRT25 KRT5 KRT71 KRT74 L1CAM L2HGDH LAGE3 LAMA1 LAMA2 LAMB2 LARGE1 LARP7 LARS2 LBR LCA5 LEMD3 LETM1 LGI4 LIG3 LIG4 LIM2 LIMK1 LIPH LIPT1 LMBRD2 LMNB1 LMOD3 LMX1B LOC111365204 LONP1 LPAR6 LRAT LRIT3 LRMDA LRP12 LRP4 LRP5 LRPPRC LRRC32 LSM11 LUZP1 LYRM7 LYST LZTFL1 LZTR1 MAB21L1 MAB21L2 MACF1 MAD2L2 MADD MAF MAFB MAG MAGEL2 MAK MAN1B1 MAN2B1 MAP2K1 MAP2K2 MAP3K20 MAP3K7 MAPK1 MAPK8IP3 MAPKAPK5 MAPRE2 MAPT MARS2 MASP1 MAST1 MBD5 MBTPS2 MC1R MCM3AP MCOLN1 MCTP2 MDH2 MECR MED12 MED12L MED13 MED13L MED25 MEF2C MEG3 MEN1 MERTK METTL27 METTL5 MFF MFN2 MFRP MGME1 MICOS13 MICU1 MID1 MID2 MINPP1 MKKS MKRN3 MKRN3-AS1 MKS1 MLXIPL MMACHC MMADHC MME MMP23B MN1 MOCS1 MOCS2 MPC1 MPDU1 MPDZ MPLKIP MPV17 MPZ MRAS MRE11 MRPL12 MRPS2 MRPS34 MTFMT MTHFR MTM1 MTMR14 MTOR MTPAP MTR MTRFR MTRR MTSS2 MTTP MUSK MVK MYF5 MYF6 MYH2 MYH3 MYH7 MYL2 MYMK MYMX MYO1H MYO5A MYO7A MYO9A MYOD1 MYORG NAA10 NADK2 NAGA NALCN NANS NARS2 NAXD NAXE NBAS NCAPG2 NCDN NCF1 ND1 ND2 ND3 ND4 ND5 ND6 NDN NDNF NDP NDST1 NDUFA1 NDUFA10 NDUFA11 NDUFA12 NDUFA13 NDUFA2 NDUFA4 NDUFA6 NDUFA9 NDUFAF1 NDUFAF2 NDUFAF3 NDUFAF4 NDUFAF5 NDUFAF6 NDUFAF8 NDUFB10 NDUFB11 NDUFB3 NDUFB8 NDUFB9 NDUFS1 NDUFS2 NDUFS3 NDUFS4 NDUFS6 NDUFS7 NDUFS8 NDUFV1 NDUFV2 NEB NECAP1 NEDD4L NEFL NEK2 NEK9 NELFA NEU1 NEUROD2 NEXMIF NF1 NF2 NFIX NGLY1 NHLRC2 NHS NIPBL NKX6-2 NMNAT1 NODAL NOG NONO NOP56 NOTCH1 NOTCH2NLC NPAP1 NPC1 NPC2 NPHP1 NPHP4 NR2E3 NR2F1 NR4A2 NRAS NRCAM NRL NRXN1 NSD1 NSD2 NSDHL NSUN2 NSUN3 NT5C2 NTNG2 NTRK2 NUBPL NUP133 NUP62 NUS1 NUTM2B-AS1 NXN NYX OCA2 OCLN OCRL OFD1 OGDHL OGT OPA1 OPA3 OPHN1 OPN1LW OPN1MW OPN1SW ORC1 OSGEP OSTM1 OTUD5 OTX2 OVOL2 OXR1 P4HA2 P4HTM PABPN1 PACS1 PACS2 PAFAH1B1 PAH PAK1 PAK2 PALB2 PANK4 PARS2 PAX2 PAX3 PAX6 PAX7 PBX1 PCARE PCDHGC4 PCYT1A PCYT2 PDCD6IP PDE4D PDE6A PDE6B PDE6C PDE6D PDE6G PDE6H PDGFB PDGFRB PDHA1 PDHB PDHX PDP1 PDPN PDYN PDZD7 PET100 PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PEX7 PGAP1 PGAP2 PGAP3 PHF21A PHF6 PHGDH PHIP PHOX2A PHOX2B PHYH PI4KA PIBF1 PIDD1 PIEZO2 PIGB PIGG PIGL PIGN PIGO PIGP PIGQ PIGS PIGT PIGU PIGV PIGW PIGY PIK3CA PIK3R5 PITX2 PLA2G6 PLAA PLD3 PLEC PLEKHG2 PLK4 PLOD1 PLP1 PLPBP PLXNA1 PLXND1 PMM2 PMP22 PMPCA PNKP PNPLA6 PNPO PNPT1 POC1B POGZ POLA1 POLG POLG2 POLR1B POLR1C POLR1D POLR2A POLR3A POLR3B POLR3K POLRMT POMGNT1 POMK POMT1 POMT2 PORCN POU3F4 POU4F1 PPFIBP1 PPM1D PPP1CB PPP1R12A PPP1R21 PPP2R2B PPP2R5D PPP3CA PQBP1 PRCD PRDM13 PRDM16 PRDX1 PRDX3 PRKACA PRKACB PRKAR1A PRKAR1B PRKCG PRKCZ PRKD1 PRMT7 PRNP PROK2 PROKR2 PROM1 PRPF3 PRPF31 PRPF4 PRPF6 PRPF8 PRPH2 PRPS1 PRR12 PRRT2 PRSS12 PRSS56 PRX PSAP PSAT1 PSEN1 PSEN2 PSMC3 PSMD12 PTCD3 PTCH1 PTCH2 PTEN PTPN11 PTPN22 PTPN23 PTRH2 PUF60 PURA PUS3 PUS7 PWAR1 PWRN1 PYCR2 PYROXD1 RAB11B RAB18 RAB39B RAB3GAP2 RAD21 RAD51 RAD51C RAF1 RAI1 RANBP2 RAPSN RARS1 RASA2 RAX RBL2 RBM8A RBP3 RBPJ RD3 RDH12 RECQL4 REEP6 REPS1 RERE RET REV3L RFC1 RFC2 RFWD3 RGR RHO RHOA RIC1 RILPL1 RIMS2 RIT1 RLBP1 RMRP RNASEH1 RNASEH2A RNASEH2B RNASEH2C RNASET2 RNF113A RNF13 RNF135 RNF170 RNF2 RNF216 RNU12 RNU4ATAC RNU7-1 ROBO3 ROM1 ROR2 RORA RP1 RP1L1 RP2 RP9 RPE65 RPGR RPGRIP1 RPGRIP1L RPIA RPL10 RPL11 RPL15 RPL18 RPL26 RPL27 RPL31 RPL35 RPL35A RPL5 RPS10 RPS15A RPS17 RPS19 RPS20 RPS24 RPS26 RPS27 RPS28 RPS29 RPS6KA3 RPS7 RRAS RRAS2 RREB1 RRM2B RS1 RSPRY1 RTL1 RTN4IP1 RUBCN RYR1 SACS SAG SALL1 SALL2 SALL4 SAMD9L SAMHD1 SARDH SATB2 SBF1 SCAPER SCN1A SCN1B SCN2A SCN3A SCN4A SCN8A SCNM1 SCO2 SCP2 SCUBE3 SCYL1 SDCCAG8 SDHA SDHAF1 SDHB SDHD SEC23A SEC24C SELENON SEMA3A SEMA3E SEMA4A SEPSECS SERPINI1 SET SETBP1 SETD2 SETD5 SETX SF3B2 SGPL1 SH3TC2 SHANK3 SHH SHMT2 SHOC2 SHROOM4 SIAH1 SIGMAR1 SIK1 SIL1 SIM1 SIN3A SIX3 SIX6 SKI SLC12A6 SLC13A5 SLC16A2 SLC17A5 SLC18A2 SLC18A3 SLC19A2 SLC19A3 SLC1A2 SLC1A3 SLC24A1 SLC24A5 SLC25A1 SLC25A20 SLC25A22 SLC25A24 SLC25A4 SLC25A46 SLC29A3 SLC2A1 SLC2A10 SLC2A3 SLC30A9 SLC33A1 SLC35A1 SLC35A2 SLC35C1 SLC37A4 SLC38A3 SLC38A8 SLC39A8 SLC44A1 SLC45A2 SLC4A11 SLC52A2 SLC52A3 SLC5A6 SLC5A7 SLC6A19 SLC6A3 SLC6A6 SLC6A8 SLC7A14 SLC9A1 SLC9A6 SLC9A7 SLX4 SMAD3 SMAD4 SMARCA4 SMARCB1 SMARCC2 SMARCD1 SMARCE1 SMC1A SMC3 SMG8 SMG9 SMO SMPD1 SNAP25 SNAP29 SNCA SNIP1 SNORD115-1 SNORD116-1 SNRNP200 SNRPN SNX10 SNX14 SOBP SON SORL1 SOS1 SOS2 SOST SOX10 SOX11 SOX2 SOX3 SOX4 SOX5 SPAST SPATA5 SPATA7 SPECC1L SPEG SPEN SPG11 SPG7 SPOP SPR SPRED2 SPRY4 SPTBN1 SPTBN2 SPTBN4 SPTLC1 SQSTM1 SRCAP SRD5A3 SREBF1 SRPX2 SRY SSR4 STAG1 STIM1 STRADA STT3A STUB1 STX16 STX1A STX3 STXBP1 SUCLA2 SUCLG1 SUFU SUPT16H SURF1 SYNE1 SYNGAP1 SYNJ1 SYT1 SYT14 SYT2 SZT2 TACO1 TACR3 TAF1 TAF2 TANGO2 TAOK1 TARDBP TARS1 TASP1 TAT TBC1D23 TBC1D24 TBC1D2B TBCD TBCK TBK1 TBL1XR1 TBL2 TBP TBX1 TBX15 TBX4 TCF12 TCF20 TCF4 TCIRG1 TCOF1 TCTN1 TCTN2 TCTN3 TDGF1 TDP1 TELO2 TENM3 TERT TET3 TFAP2A TFAP2B TFE3 TGFBI TGFBR1 TGFBR2 TGFBR3 TGIF1 TGM6 THG1L THOC2 THSD1 TIMM50 TIMMDC1 TINF2 TK2 TKFC TKT TLK2 TMCO1 TMEM106B TMEM107 TMEM126A TMEM126B TMEM138 TMEM216 TMEM218 TMEM222 TMEM231 TMEM237 TMEM240 TMEM270 TMEM53 TMEM63A TMEM63C TMEM67 TMEM94 TMEM98 TNFRSF11A TNFSF11 TNPO2 TNR TOE1 TOGARAM1 TOMM40 TONSL TOP3A TOPORS TOR1A TPK1 TPM2 TPM3 TPP1 TRAF3IP1 TRAF7 TRAK1 TRAPPC11 TRAPPC6B TREM2 TREX1 TRIM32 TRIM37 TRIM44 TRIM8 TRIO TRIP11 TRIP12 TRIP13 TRIT1 TRNC TRNE TRNF TRNH TRNK TRNL1 TRNL2 TRNN TRNQ TRNS1 TRNS2 TRNT TRNV TRNW TRPM1 TRPV4 TSEN15 TSEN54 TSPAN7 TSPYL1 TSR2 TTBK2 TTC19 TTC8 TTI2 TTN TTPA TTR TUB TUBA1A TUBB2B TUBB3 TUBB4A TUBB4B TUBGCP4 TUBGCP6 TUFM TULP1 TWIST1 TWIST2 TWNK TYMP TYR TYROBP TYRP1 UBA2 UBA5 UBAP1 UBE2A UBE2T UBE3A UBE3B UBE4B UBR1 UCHL1 UFC1 UFD1 UFSP2 UGP2 UGT1A1 UNC80 UROC1 USH1C USH2A USP45 USP7 USP8 USP9X VAMP1 VARS2 VCP VLDLR VMA21 VPS13A VPS13B VPS13D VPS33A VPS37D VPS41 VPS4A VPS50 VPS51 VPS53 VRK1 VSX1 VWA3B WAC WARS2 WASF1 WASHC4 WDPCP WDR11 WDR19 WDR26 WDR35 WDR45 WDR48 WDR73 WDR81 WFS1 WHRN WNT5A WT1 WWOX XPA XPC XRCC1 XRCC2 XRCC4 XYLT2 YAP1 YARS1 YARS2 YME1L1 YWHAG YY1 ZBTB20 ZC4H2 ZDHHC9 ZEB1 ZEB2 ZFHX4 ZFYVE26 ZIC1 ZIC2 ZMIZ1 ZNF292 ZNF407 ZNF408 ZNF423 ZNF513 ZNF699 ZNHIT3 ZSWIM6

Diseases (1857) :OMIM:616339 ORPHA:442835 OMIM:619691 OMIM:615889 ORPHA:2203 ORPHA:791 ORPHA:827 ORPHA:1020 ORPHA:2802 OMIM:240800 OMIM:619719 ORPHA:139396 OMIM:612674 OMIM:275630 ORPHA:98907 OMIM:201470 OMIM:610006 OMIM:618863 OMIM:619215 OMIM:614559 ORPHA:2971 OMIM:264470 OMIM:617308 ORPHA:86818 ORPHA:2020 ORPHA:171433 OMIM:255310 ORPHA:171430 OMIM:618654 ORPHA:124 OMIM:615688 ORPHA:1885 ORPHA:51 OMIM:615010 ORPHA:225154 OMIM:618862 ORPHA:363528 OMIM:615286 OMIM:617008 ORPHA:101070 ORPHA:98889 OMIM:606854 ORPHA:231178 ORPHA:404448 OMIM:615873 ORPHA:363549 OMIM:618170 OMIM:103050 ORPHA:536532 OMIM:619297 ORPHA:444077 ORPHA:313772 OMIM:614487 OMIM:610246 ORPHA:101109 ORPHA:1369 OMIM:212350 OMIM:619149 ORPHA:98913 ORPHA:98914 OMIM:618276 ORPHA:2254 ORPHA:88618 ORPHA:412069 OMIM:615829 ORPHA:475 OMIM:608629 ORPHA:220493 ORPHA:83629 OMIM:300232 OMIM:260600 ORPHA:2965 ORPHA:65 OMIM:604393 ORPHA:2495 ORPHA:744 ORPHA:99802 ORPHA:90348 ORPHA:447753 OMIM:616603 OMIM:219150 OMIM:601162 ORPHA:35612 OMIM:270200 ORPHA:79101 OMIM:271980 OMIM:266100 ORPHA:3006 ORPHA:79327 ORPHA:280071 OMIM:613661 ORPHA:79324 ORPHA:324422 OMIM:300884 ORPHA:79326 OMIM:607906 ORPHA:79321 OMIM:601110 ORPHA:79320 OMIM:603147 ORPHA:79325 ORPHA:79328 OMIM:608776 ORPHA:64 OMIM:203800 OMIM:205100 ORPHA:293168 ORPHA:300605 OMIM:606353 OMIM:607225 ORPHA:391474 OMIM:613451 ORPHA:228390 ORPHA:52022 OMIM:300990 OMIM:619699 ORPHA:231160 ORPHA:251066 ORPHA:261250 ORPHA:2332 OMIM:619504 ORPHA:284289 OMIM:613728 ORPHA:478 ORPHA:2067 OMIM:230740 OMIM:619467 ORPHA:1568 OMIM:608233 OMIM:617050 ORPHA:1000 ORPHA:54 ORPHA:280763 OMIM:613744 OMIM:612936 ORPHA:3258 ORPHA:99818 ORPHA:821 OMIM:208920 OMIM:617164 ORPHA:974 OMIM:100300 OMIM:617523 ORPHA:1465 OMIM:614607 OMIM:135900 OMIM:612291 OMIM:618161 ORPHA:110 OMIM:209900 OMIM:617622 ORPHA:3157 OMIM:620141 ORPHA:567 ORPHA:2508 OMIM:300004 ORPHA:1934 OMIM:300215 ORPHA:333 ORPHA:99803 OMIM:617796 OMIM:271900 ORPHA:314911 OMIM:605039 ORPHA:352577 OMIM:615485 OMIM:617183 ORPHA:496790 OMIM:601238 ORPHA:94122 ORPHA:49382 OMIM:616517 OMIM:617584 OMIM:619422 ORPHA:100 OMIM:208900 ORPHA:101 ORPHA:91495 OMIM:221900 ORPHA:314632 ORPHA:513436 ORPHA:306674 OMIM:606693 OMIM:617225 ORPHA:2131 OMIM:104290 ORPHA:569 OMIM:602481 OMIM:614820 OMIM:601338 ORPHA:1171 OMIM:619606 OMIM:302500 ORPHA:314978 OMIM:615228 OMIM:618683 ORPHA:255210 ORPHA:644 OMIM:551500 ORPHA:357074 OMIM:219200 ORPHA:79500 OMIM:617402 ORPHA:480 ORPHA:1766 OMIM:210600 OMIM:309580 OMIM:164400 ORPHA:98755 OMIM:603516 ORPHA:98761 OMIM:183090 ORPHA:98756 OMIM:109150 ORPHA:276238 ORPHA:276241 ORPHA:276244 OMIM:164500 ORPHA:94147 OMIM:608768 ORPHA:98760 ORPHA:352490 OMIM:615834 ORPHA:588 OMIM:245600 ORPHA:709 OMIM:261540 OMIM:609195 OMIM:617120 OMIM:619762 ORPHA:904 OMIM:615986 OMIM:300475 ORPHA:369939 OMIM:619641 OMIM:617101 ORPHA:568 OMIM:300166 OMIM:301029 ORPHA:261330 ORPHA:893 OMIM:117210 ORPHA:217012 OMIM:193220 OMIM:619325 ORPHA:169189 ORPHA:169186 OMIM:255200 OMIM:614077 OMIM:619172 OMIM:614171 OMIM:617822 ORPHA:139471 OMIM:607932 OMIM:617755 ORPHA:1340 OMIM:115150 OMIM:613706 OMIM:618056 ORPHA:84 ORPHA:199 ORPHA:444072 OMIM:616202 OMIM:617333 OMIM:257300 ORPHA:289560 OMIM:617713 OMIM:105550 ORPHA:275872 OMIM:613227 OMIM:610427 ORPHA:215 OMIM:617106 OMIM:108500 ORPHA:97 OMIM:141500 OMIM:183086 ORPHA:98758 OMIM:618497 OMIM:618285 OMIM:300600 ORPHA:178333 OMIM:300476 OMIM:300071 OMIM:616795 OMIM:618087 ORPHA:458803 ORPHA:64280 ORPHA:79102 OMIM:618501 OMIM:607682 ORPHA:211067 OMIM:613855 ORPHA:307 OMIM:617798 OMIM:617799 OMIM:618522 OMIM:614756 ORPHA:314647 ORPHA:488594 OMIM:616907 OMIM:618891 ORPHA:33364 OMIM:300749 ORPHA:163937 ORPHA:1606 OMIM:606721 ORPHA:648 OMIM:619111 OMIM:612285 ORPHA:1454 ORPHA:2318 OMIM:616816 ORPHA:423275 OMIM:300707 OMIM:211750 ORPHA:1308 ORPHA:487796 OMIM:616737 OMIM:619841 OMIM:617063 OMIM:616910 ORPHA:1299 OMIM:211380 OMIM:618929 ORPHA:91347 ORPHA:1897 ORPHA:1573 OMIM:617360 OMIM:618748 ORPHA:280200 OMIM:619561 OMIM:616051 OMIM:608393 OMIM:619988 OMIM:616781 OMIM:617761 OMIM:613823 OMIM:614845 OMIM:615991 OMIM:610188 OMIM:614464 OMIM:617236 OMIM:615862 ORPHA:572013 OMIM:616230 OMIM:602271 OMIM:616579 OMIM:254210 OMIM:618205 ORPHA:138 OMIM:620023 OMIM:614961 ORPHA:233 OMIM:604356 OMIM:618438 OMIM:601462 OMIM:608930 ORPHA:199318 OMIM:612001 OMIM:616313 OMIM:616322 OMIM:605809 OMIM:616324 OMIM:608931 ORPHA:2990 OMIM:601776 ORPHA:2953 ORPHA:3463 OMIM:619512 OMIM:619517 ORPHA:485350 OMIM:300114 OMIM:619173 ORPHA:667 OMIM:619328 OMIM:248250 ORPHA:2196 OMIM:248190 ORPHA:228346 OMIM:256731 ORPHA:228360 ORPHA:411493 OMIM:615803 ORPHA:445038 OMIM:616271 ORPHA:453510 ORPHA:2116 OMIM:216900 OMIM:262300 OMIM:217080 ORPHA:1873 OMIM:618672 ORPHA:163681 ORPHA:263501 OMIM:613489 ORPHA:263487 ORPHA:95428 OMIM:611182 OMIM:154780 ORPHA:560 ORPHA:1427 ORPHA:75840 ORPHA:1571 OMIM:267750 ORPHA:230851 ORPHA:91411 OMIM:616219 ORPHA:93315 OMIM:618343 OMIM:175780 OMIM:614483 ORPHA:98973 OMIM:265050 OMIM:603034 ORPHA:98915 OMIM:607426 OMIM:146500 ORPHA:227510 ORPHA:98933 OMIM:619028 ORPHA:139485 ORPHA:550 OMIM:540000 OMIM:619046 ORPHA:255241 OMIM:619355 ORPHA:48818 OMIM:614615 ORPHA:2754 OMIM:277170 OMIM:194190 ORPHA:280 OMIM:619876 OMIM:613835 OMIM:172870 OMIM:600105 OMIM:618332 OMIM:180849 ORPHA:353277 OMIM:615789 OMIM:613829 OMIM:604219 ORPHA:1377 OMIM:611544 OMIM:604307 OMIM:618476 OMIM:615636 ORPHA:397715 ORPHA:363611 OMIM:615502 OMIM:604168 ORPHA:48431 OMIM:617572 OMIM:615075 ORPHA:404473 ORPHA:763 ORPHA:453521 OMIM:616127 ORPHA:621 OMIM:250800 ORPHA:708 ORPHA:909 ORPHA:100986 OMIM:270800 OMIM:615945 ORPHA:363710 ORPHA:857 OMIM:615281 ORPHA:137898 OMIM:611105 OMIM:617542 ORPHA:2744 OMIM:610048 OMIM:619165 OMIM:168605 OMIM:300067 OMIM:619426 ORPHA:910 ORPHA:320380 OMIM:615033 OMIM:614507 ORPHA:300536 OMIM:300958 OMIM:174300 OMIM:618653 ORPHA:819 OMIM:618404 ORPHA:329314 OMIM:251880 OMIM:617070 OMIM:602398 ORPHA:35107 OMIM:270400 ORPHA:818 ORPHA:246 OMIM:618733 OMIM:617804 OMIM:618731 OMIM:305000 ORPHA:268882 ORPHA:79244 OMIM:245348 OMIM:300850 OMIM:618793 ORPHA:254528 ORPHA:352470 OMIM:615156 OMIM:617384 OMIM:615528 ORPHA:98673 ORPHA:330050 OMIM:614388 OMIM:160150 OMIM:618415 ORPHA:314404 OMIM:618724 OMIM:614219 OMIM:620066 OMIM:254300 OMIM:610768 ORPHA:91131 OMIM:608093 ORPHA:86309 OMIM:618027 OMIM:608799 ORPHA:79322 OMIM:615042 ORPHA:329178 ORPHA:2514 OMIM:274270 ORPHA:1675 OMIM:619435 OMIM:614076 ORPHA:3107 ORPHA:289 ORPHA:268261 ORPHA:464311 OMIM:614924 OMIM:617330 OMIM:302960 OMIM:616277 OMIM:619493 OMIM:277580 OMIM:609306 ORPHA:101112 ORPHA:1941 OMIM:304110 OMIM:145900 OMIM:619687 ORPHA:1667 ORPHA:85282 OMIM:300148 OMIM:618295 OMIM:194050 OMIM:618527 OMIM:133190 ORPHA:1955 OMIM:615957 ORPHA:423296 OMIM:616875 ORPHA:480898 OMIM:619264 OMIM:618333 OMIM:613684 ORPHA:353284 ORPHA:1493 OMIM:242840 OMIM:617951 OMIM:610758 ORPHA:90322 OMIM:601675 ORPHA:220295 ORPHA:90321 OMIM:278760 OMIM:214150 ORPHA:90324 OMIM:133540 OMIM:278800 OMIM:216400 ORPHA:207 ORPHA:209951 OMIM:611225 ORPHA:75857 OMIM:615544 ORPHA:3103 OMIM:619076 OMIM:619304 OMIM:617763 OMIM:614678 OMIM:619576 OMIM:618065 OMIM:616682 ORPHA:508533 OMIM:277590 ORPHA:171629 ORPHA:329308 OMIM:612319 OMIM:618763 OMIM:300261 OMIM:227650 OMIM:227645 OMIM:227646 OMIM:600901 ORPHA:466722 OMIM:618855 OMIM:617769 OMIM:154700 ORPHA:2462 ORPHA:2833 OMIM:606220 OMIM:615471 OMIM:618089 OMIM:619777 OMIM:260300 ORPHA:171695 OMIM:618914 OMIM:620012 OMIM:618324 OMIM:251900 OMIM:617717 ORPHA:543470 OMIM:305400 ORPHA:915 ORPHA:2363 OMIM:193003 ORPHA:98764 ORPHA:90024 OMIM:101600 OMIM:101200 ORPHA:87 OMIM:123500 ORPHA:1540 ORPHA:794 OMIM:101400 OMIM:616482 ORPHA:93262 OMIM:602849 ORPHA:500095 OMIM:617107 ORPHA:208441 ORPHA:370959 ORPHA:370968 OMIM:253800 ORPHA:2308 OMIM:300049 OMIM:309350 ORPHA:320406 ORPHA:908 OMIM:300623 ORPHA:449291 OMIM:619991 ORPHA:250923 OMIM:610256 OMIM:110100 ORPHA:572333 ORPHA:391372 OMIM:613670 ORPHA:2609 OMIM:158900 OMIM:616819 ORPHA:466688 OMIM:620094 OMIM:310700 OMIM:300983 OMIM:616981 ORPHA:157846 ORPHA:1136 ORPHA:95 OMIM:229300 OMIM:133780 OMIM:618396 OMIM:245200 ORPHA:206443 OMIM:618885 OMIM:256850 OMIM:190685 OMIM:146255 ORPHA:251071 OMIM:615074 ORPHA:363686 ORPHA:77260 ORPHA:77261 OMIM:608013 OMIM:230900 OMIM:231000 OMIM:231005 ORPHA:2072 ORPHA:352641 ORPHA:320391 OMIM:614409 ORPHA:98808 OMIM:128230 OMIM:233910 OMIM:618369 OMIM:613703 ORPHA:3250 OMIM:203450 ORPHA:363722 ORPHA:330054 OMIM:609060 OMIM:610542 ORPHA:436274 OMIM:231950 ORPHA:98897 OMIM:618940 ORPHA:2710 OMIM:612474 OMIM:302800 ORPHA:1175 OMIM:129500 ORPHA:320401 OMIM:608804 OMIM:613206 OMIM:307030 OMIM:614619 ORPHA:401866 OMIM:616859 ORPHA:309246 OMIM:616835 OMIM:615510 ORPHA:363623 OMIM:615351 OMIM:615352 ORPHA:1063 ORPHA:3205 ORPHA:79443 ORPHA:94089 ORPHA:79444 OMIM:103580 OMIM:612462 OMIM:612463 OMIM:613856 ORPHA:488613 OMIM:616973 OMIM:619503 ORPHA:542306 OMIM:617173 OMIM:617182 OMIM:617810 ORPHA:529665 OMIM:300500 OMIM:300814 OMIM:614565 OMIM:619931 OMIM:617864 ORPHA:363432 OMIM:616204 OMIM:619580 ORPHA:208447 OMIM:617820 ORPHA:289266 ORPHA:75382 ORPHA:324262 OMIM:617691 OMIM:614831 OMIM:616943 OMIM:601777 OMIM:204000 OMIM:617537 OMIM:619720 OMIM:619759 OMIM:619758 OMIM:619950 OMIM:619951 OMIM:616756 ORPHA:464282 ORPHA:5 OMIM:614504 OMIM:617268 OMIM:615516 OMIM:176270 ORPHA:1422 OMIM:250620 ORPHA:88639 OMIM:619983 OMIM:616881 OMIM:618547 ORPHA:397 OMIM:123400 OMIM:300915 OMIM:612109 OMIM:620083 OMIM:300986 OMIM:620073 ORPHA:238769 OMIM:601536 ORPHA:2438 OMIM:614744 OMIM:619026 OMIM:203300 OMIM:614072 OMIM:614073 OMIM:614074 OMIM:614075 OMIM:218040 ORPHA:3071 OMIM:163200 ORPHA:391428 OMIM:300438 OMIM:261515 OMIM:233400 OMIM:612233 ORPHA:800 OMIM:600142 OMIM:143100 ORPHA:399 ORPHA:248111 OMIM:309590 OMIM:616007 OMIM:615330 ORPHA:99646 OMIM:619007 OMIM:615846 ORPHA:98771 ORPHA:1515 OMIM:218330 OMIM:266920 OMIM:615630 OMIM:617102 OMIM:619582 ORPHA:52055 OMIM:300472 OMIM:270450 ORPHA:464 OMIM:308300 OMIM:300143 OMIM:613837 OMIM:213300 ORPHA:559 OMIM:617404 OMIM:618571 OMIM:619472 OMIM:309530 ORPHA:397933 OMIM:618088 OMIM:616370 OMIM:255125 OMIM:206700 OMIM:606658 OMIM:117360 ORPHA:208513 OMIM:118450 OMIM:618824 OMIM:612900 ORPHA:363958 OMIM:610443 ORPHA:363965 OMIM:619147 OMIM:619103 OMIM:616268 ORPHA:457193 OMIM:618974 OMIM:616784 OMIM:605259 ORPHA:98768 OMIM:607346 ORPHA:98772 OMIM:135500 OMIM:614186 ORPHA:435628 OMIM:618381 ORPHA:79137 OMIM:618729 OMIM:619724 OMIM:610356 OMIM:616728 ORPHA:477993 OMIM:618109 OMIM:300534 ORPHA:85279 ORPHA:2322 OMIM:147920 OMIM:300867 OMIM:618505 OMIM:616490 OMIM:619476 OMIM:617296 ORPHA:521390 OMIM:152950 OMIM:617914 ORPHA:261323 ORPHA:101010 OMIM:614255 ORPHA:2836 OMIM:256700 ORPHA:397946 OMIM:611302 OMIM:135700 ORPHA:93360 OMIM:615411 OMIM:617235 OMIM:200990 OMIM:609541 OMIM:615348 OMIM:605130 OMIM:619934 ORPHA:589618 OMIM:617284 OMIM:609942 OMIM:600268 ORPHA:3339 OMIM:609165 ORPHA:79396 ORPHA:170 ORPHA:2182 OMIM:303350 OMIM:236792 OMIM:301006 ORPHA:370022 OMIM:615960 OMIM:607855 OMIM:614199 OMIM:608840 ORPHA:319671 OMIM:615300 OMIM:169400 OMIM:604537 ORPHA:364055 ORPHA:1306 OMIM:620089 OMIM:617468 ORPHA:298 ORPHA:235 OMIM:615277 OMIM:619694 ORPHA:99027 OMIM:169500 OMIM:616165 ORPHA:495818 OMIM:600790 ORPHA:1458 OMIM:613341 OMIM:615058 OMIM:615179 OMIM:164310 ORPHA:2790 OMIM:601813 ORPHA:2788 OMIM:220111 OMIM:619074 OMIM:619486 OMIM:615838 ORPHA:167 OMIM:214500 OMIM:618479 OMIM:615877 OMIM:618325 OMIM:619004 OMIM:619005 OMIM:617041 ORPHA:459056 OMIM:616680 ORPHA:398069 ORPHA:98754 ORPHA:177901 ORPHA:177904 OMIM:615547 OMIM:614202 OMIM:248500 ORPHA:309282 OMIM:615279 OMIM:615280 OMIM:157800 OMIM:618443 OMIM:619869 OMIM:616734 ORPHA:240071 ORPHA:240103 ORPHA:240085 ORPHA:240112 ORPHA:240094 OMIM:260540 OMIM:601104 ORPHA:314603 OMIM:611390 OMIM:257920 OMIM:618273 OMIM:156200 ORPHA:2273 OMIM:203200 ORPHA:79432 OMIM:618124 OMIM:252650 ORPHA:578 ORPHA:1596 OMIM:617339 OMIM:617282 ORPHA:508093 ORPHA:93932 OMIM:301068 OMIM:300895 OMIM:305450 OMIM:618872 OMIM:618009 OMIM:616789 OMIM:616449 ORPHA:464738 ORPHA:228384 OMIM:618665 OMIM:617086 ORPHA:485421 OMIM:601152 OMIM:615084 ORPHA:352447 ORPHA:67047 ORPHA:401768 ORPHA:2745 OMIM:300928 ORPHA:284339 OMIM:619527 OMIM:617121 OMIM:249000 ORPHA:79282 OMIM:277400 OMIM:277410 OMIM:617018 ORPHA:497764 OMIM:618774 OMIM:252150 OMIM:252160 OMIM:614741 OMIM:609180 OMIM:615219 OMIM:234050 OMIM:256810 ORPHA:3115 ORPHA:251347 OMIM:604391 OMIM:618951 OMIM:617950 OMIM:617664 OMIM:614947 OMIM:618248 ORPHA:395 OMIM:310400 ORPHA:457485 OMIM:616638 ORPHA:254343 OMIM:613672 OMIM:250940 ORPHA:320375 ORPHA:254930 OMIM:613559 OMIM:615035 OMIM:236270 ORPHA:2169 OMIM:620086 ORPHA:14 OMIM:616325 OMIM:610377 OMIM:618155 OMIM:605637 OMIM:193700 ORPHA:2053 OMIM:254940 ORPHA:1358 OMIM:619482 ORPHA:79476 ORPHA:33445 OMIM:276900 OMIM:618198 OMIM:618975 OMIM:618317 OMIM:616034 ORPHA:431361 ORPHA:79279 ORPHA:79281 OMIM:609241 OMIM:616266 OMIM:615419 ORPHA:371364 OMIM:610442 OMIM:616239 OMIM:618321 OMIM:617186 OMIM:614800 OMIM:618460 OMIM:619373 ORPHA:190 OMIM:305390 ORPHA:649 OMIM:616116 OMIM:301020 OMIM:618236 OMIM:618249 OMIM:618233 ORPHA:70474 OMIM:618237 OMIM:618238 OMIM:300952 OMIM:618226 OMIM:618228 OMIM:252010 OMIM:618232 OMIM:618222 OMIM:618225 OMIM:618229 OMIM:617201 OMIM:617882 OMIM:614262 ORPHA:93400 ORPHA:93399 OMIM:256550 ORPHA:812 OMIM:618374 OMIM:300912 ORPHA:85277 ORPHA:97685 ORPHA:447980 ORPHA:420179 OMIM:614753 ORPHA:404454 OMIM:615273 OMIM:618278 OMIM:302350 ORPHA:627 OMIM:122470 ORPHA:527497 OMIM:617560 OMIM:608553 OMIM:619260 OMIM:186500 ORPHA:466791 OMIM:300967 OMIM:614153 ORPHA:276198 ORPHA:2289 OMIM:619473 OMIM:257220 OMIM:607625 OMIM:609583 ORPHA:220497 OMIM:606996 OMIM:615722 ORPHA:401777 OMIM:619833 OMIM:614325 OMIM:117550 ORPHA:251383 OMIM:300831 OMIM:611091 OMIM:619012 ORPHA:320396 OMIM:613162 OMIM:618718 OMIM:617830 OMIM:618242 OMIM:618349 OMIM:271930 OMIM:618637 ORPHA:1507 ORPHA:98794 OMIM:251290 ORPHA:534 OMIM:300424 OMIM:619701 OMIM:300997 ORPHA:1215 OMIM:210000 OMIM:165500 OMIM:125250 ORPHA:67036 OMIM:300486 ORPHA:137831 OMIM:303700 ORPHA:88629 OMIM:224690 OMIM:617729 OMIM:259720 OMIM:301056 OMIM:213000 OMIM:618493 ORPHA:270 OMIM:615009 OMIM:618067 ORPHA:95232 ORPHA:2209 OMIM:618158 OMIM:619593 OMIM:120330 ORPHA:1475 ORPHA:97362 ORPHA:894 OMIM:106210 OMIM:604229 ORPHA:2334 OMIM:120200 OMIM:136520 ORPHA:2253 ORPHA:137902 ORPHA:35737 OMIM:165550 OMIM:618578 OMIM:617641 OMIM:619880 OMIM:608940 ORPHA:85167 OMIM:618770 OMIM:620047 ORPHA:439822 OMIM:613093 OMIM:615665 OMIM:610024 OMIM:615007 OMIM:312170 ORPHA:255138 OMIM:245349 OMIM:608782 OMIM:610245 ORPHA:101108 OMIM:619055 ORPHA:772 ORPHA:44 OMIM:214100 ORPHA:912 ORPHA:247815 OMIM:614871 OMIM:614920 OMIM:614877 OMIM:614867 OMIM:614872 OMIM:617370 OMIM:202370 OMIM:616716 ORPHA:95433 OMIM:614863 OMIM:266500 ORPHA:773 OMIM:615802 ORPHA:247262 OMIM:301900 ORPHA:127 ORPHA:79351 OMIM:601815 OMIM:617991 ORPHA:589905 OMIM:602078 OMIM:619708 OMIM:619621 OMIM:617767 OMIM:619827 OMIM:114300 OMIM:108145 ORPHA:1154 OMIM:248700 OMIM:618580 ORPHA:3474 ORPHA:280633 OMIM:614080 OMIM:618548 OMIM:618143 ORPHA:369837 OMIM:615398 OMIM:618590 OMIM:615217 ORPHA:64753 OMIM:180500 ORPHA:199351 ORPHA:35069 OMIM:256600 OMIM:610217 OMIM:612953 OMIM:617527 ORPHA:521426 OMIM:617770 ORPHA:257 OMIM:616763 ORPHA:2518 ORPHA:1900 OMIM:312080 ORPHA:280229 ORPHA:280219 ORPHA:280210 ORPHA:280224 OMIM:312920 ORPHA:99015 OMIM:617290 OMIM:619955 ORPHA:570 OMIM:212065 ORPHA:79318 ORPHA:1170 OMIM:213200 OMIM:616267 ORPHA:459033 ORPHA:1173 OMIM:245800 ORPHA:2377 OMIM:275400 ORPHA:79096 OMIM:610090 ORPHA:319514 OMIM:614932 OMIM:608703 ORPHA:101111 OMIM:615973 OMIM:616364 ORPHA:468678 OMIM:301030 ORPHA:254892 ORPHA:254886 OMIM:603041 OMIM:613662 OMIM:157640 OMIM:258450 ORPHA:94125 OMIM:607459 ORPHA:70595 OMIM:610131 ORPHA:861 OMIM:618603 OMIM:607694 ORPHA:447896 ORPHA:3455 OMIM:264090 OMIM:614381 OMIM:619310 OMIM:619743 OMIM:253280 OMIM:613151 OMIM:613156 ORPHA:2092 OMIM:305600 ORPHA:1435 OMIM:619352 OMIM:620024 OMIM:617450 OMIM:617506 OMIM:618820 OMIM:619383 OMIM:604326 ORPHA:457279 OMIM:616355 OMIM:309500 ORPHA:93945 ORPHA:93950 OMIM:619909 OMIM:619761 OMIM:619862 OMIM:101800 OMIM:619680 OMIM:605361 ORPHA:98763 OMIM:617364 OMIM:617157 ORPHA:464288 OMIM:137440 ORPHA:157941 ORPHA:282166 OMIM:245300 OMIM:612095 OMIM:301835 ORPHA:1187 OMIM:300661 ORPHA:423479 OMIM:619539 OMIM:249500 ORPHA:139406 OMIM:610539 ORPHA:284417 OMIM:619354 OMIM:617516 OMIM:619057 OMIM:109400 ORPHA:377 ORPHA:77301 OMIM:151100 OMIM:618890 ORPHA:456312 OMIM:616263 ORPHA:508488 ORPHA:508498 OMIM:616158 OMIM:617051 ORPHA:488627 OMIM:618342 OMIM:616420 ORPHA:481152 OMIM:617258 OMIM:617807 OMIM:614222 ORPHA:2379 OMIM:212720 ORPHA:477817 ORPHA:88619 OMIM:616140 ORPHA:438114 OMIM:619690 OMIM:274000 OMIM:610612 OMIM:218600 ORPHA:1225 OMIM:268400 OMIM:617916 OMIM:616975 ORPHA:494344 OMIM:614575 OMIM:618727 OMIM:618761 OMIM:619790 OMIM:618970 ORPHA:175 ORPHA:329336 OMIM:616479 OMIM:610329 OMIM:612951 ORPHA:544503 ORPHA:137634 OMIM:619686 OMIM:619460 ORPHA:512260 OMIM:226960 ORPHA:1824 OMIM:619487 OMIM:607313 OMIM:618060 OMIM:618826 OMIM:204100 OMIM:613794 OMIM:304020 OMIM:613826 OMIM:619113 OMIM:611560 OMIM:608611 ORPHA:459070 OMIM:105650 ORPHA:192 OMIM:618624 OMIM:612075 OMIM:613077 ORPHA:792 ORPHA:457395 OMIM:616723 OMIM:616732 ORPHA:404499 OMIM:615705 ORPHA:597 ORPHA:98905 ORPHA:424107 OMIM:255320 ORPHA:98 OMIM:270550 OMIM:107480 OMIM:216820 ORPHA:959 OMIM:607323 OMIM:147750 ORPHA:2307 OMIM:159550 ORPHA:2585 OMIM:619806 ORPHA:3129 ORPHA:251019 ORPHA:251028 ORPHA:576283 OMIM:615284 OMIM:619317 OMIM:618924 ORPHA:99736 ORPHA:682 OMIM:614198 ORPHA:99734 ORPHA:99735 OMIM:614306 OMIM:620107 ORPHA:521411 OMIM:604377 OMIM:613724 OMIM:619184 ORPHA:466794 ORPHA:3208 OMIM:252011 OMIM:619259 OMIM:619167 OMIM:607812 OMIM:613811 OMIM:604218 OMIM:618106 OMIM:616078 ORPHA:404440 OMIM:615761 OMIM:606002 OMIM:164210 OMIM:617575 ORPHA:99949 OMIM:601596 ORPHA:48652 OMIM:606232 OMIM:619121 OMIM:607721 ORPHA:85288 OMIM:619314 OMIM:248800 ORPHA:171829 ORPHA:398079 ORPHA:94065 OMIM:613406 OMIM:212550 OMIM:182212 OMIM:218000 ORPHA:1496 ORPHA:59 OMIM:300523 OMIM:269920 OMIM:604369 ORPHA:352649 OMIM:617239 OMIM:249270 OMIM:607483 ORPHA:209967 OMIM:612656 OMIM:113750 ORPHA:370097 ORPHA:159 ORPHA:2095 ORPHA:2963 OMIM:609283 OMIM:616505 ORPHA:1782 ORPHA:71277 OMIM:606777 ORPHA:168577 OMIM:608885 ORPHA:3342 OMIM:617595 OMIM:614482 OMIM:603585 OMIM:300896 ORPHA:356961 ORPHA:99843 OMIM:619525 OMIM:609218 OMIM:616721 ORPHA:468699 OMIM:618868 OMIM:606574 ORPHA:79435 ORPHA:293603 ORPHA:1490 OMIM:614707 OMIM:211530 OMIM:618973 OMIM:617143 OMIM:613135 OMIM:145350 OMIM:300352 OMIM:616291 ORPHA:85278 OMIM:300243 OMIM:301024 OMIM:613795 OMIM:139210 OMIM:619268 OMIM:619995 ORPHA:77293 ORPHA:66631 OMIM:614501 OMIM:105830 ORPHA:177907 ORPHA:397709 OMIM:616354 OMIM:613671 ORPHA:500150 OMIM:617140 OMIM:269500 OMIM:609136 ORPHA:163746 OMIM:611584 ORPHA:67045 ORPHA:313892 OMIM:616803 OMIM:182601 OMIM:616577 ORPHA:457351 OMIM:604232 ORPHA:1519 OMIM:615959 ORPHA:2822 OMIM:604360 OMIM:607259 ORPHA:99013 OMIM:618829 OMIM:612716 OMIM:619475 ORPHA:352403 OMIM:600224 OMIM:615386 OMIM:617519 OMIM:617145 OMIM:619595 ORPHA:2044 OMIM:136140 OMIM:612379 ORPHA:324737 OMIM:619016 OMIM:158310 ORPHA:1772 OMIM:300934 ORPHA:370927 ORPHA:502434 OMIM:160565 OMIM:611087 OMIM:619714 ORPHA:370921 ORPHA:412057 OMIM:615768 OMIM:619446 OMIM:612164 OMIM:612073 ORPHA:17 OMIM:617757 OMIM:619480 OMIM:616684 OMIM:220110 OMIM:618484 ORPHA:88644 ORPHA:319332 OMIM:610743 OMIM:612621 OMIM:615530 OMIM:618218 ORPHA:522077 ORPHA:284271 OMIM:614229 OMIM:619461 OMIM:300966 ORPHA:480907 OMIM:615599 ORPHA:397951 ORPHA:480864 OMIM:619575 OMIM:618950 ORPHA:28378 OMIM:617695 OMIM:608105 ORPHA:163727 ORPHA:397973 ORPHA:496641 OMIM:617193 ORPHA:488632 OMIM:602342 ORPHA:487825 OMIM:607136 OMIM:188400 ORPHA:93333 ORPHA:261279 OMIM:615314 OMIM:618430 OMIM:610954 ORPHA:2896 OMIM:259700 OMIM:154500 OMIM:616654 OMIM:614815 ORPHA:2753 ORPHA:94124 ORPHA:488642 OMIM:615145 OMIM:618798 ORPHA:1297 OMIM:113620 ORPHA:46627 OMIM:169100 OMIM:301066 OMIM:608470 OMIM:121900 OMIM:609192 OMIM:610168 OMIM:613908 ORPHA:276193 OMIM:618800 OMIM:300957 ORPHA:457240 OMIM:617698 OMIM:618251 OMIM:268130 ORPHA:254875 OMIM:617069 OMIM:617044 OMIM:618050 ORPHA:1394 OMIM:213980 OMIM:617964 OMIM:617562 OMIM:617563 OMIM:612989 OMIM:614465 OMIM:608091 OMIM:619562 OMIM:619470 OMIM:614970 ORPHA:2752 OMIM:614424 OMIM:607454 ORPHA:98773 OMIM:619727 OMIM:618688 OMIM:619966 OMIM:216360 OMIM:610688 OMIM:613550 OMIM:602152 OMIM:618316 OMIM:612301 OMIM:259710 OMIM:619556 OMIM:619653 OMIM:614969 OMIM:619185 ORPHA:93357 OMIM:618098 OMIM:618947 OMIM:614458 ORPHA:284324 OMIM:609270 OMIM:616629 ORPHA:369847 OMIM:615356 ORPHA:369840 OMIM:617862 ORPHA:2770 OMIM:225750 OMIM:253250 ORPHA:476126 ORPHA:166272 OMIM:617752 OMIM:617598 OMIM:617873 ORPHA:225 ORPHA:1349 ORPHA:663 ORPHA:254857 OMIM:613216 OMIM:606071 OMIM:617026 OMIM:277470 OMIM:300210 ORPHA:168593 OMIM:604432 ORPHA:98767 OMIM:615157 OMIM:615541 ORPHA:391307 ORPHA:96 OMIM:105210 ORPHA:171680 ORPHA:467166 OMIM:610031 ORPHA:300573 ORPHA:300570 OMIM:614039 OMIM:600638 OMIM:612438 OMIM:617879 OMIM:616335 OMIM:251270 OMIM:610678 OMIM:613843 OMIM:600132 OMIM:180750 ORPHA:1807 ORPHA:1186 OMIM:271245 OMIM:616138 OMIM:609286 OMIM:203100 OMIM:606952 ORPHA:79431 ORPHA:79434 OMIM:203290 ORPHA:79433 OMIM:619959 OMIM:617133 OMIM:618418 ORPHA:163956 ORPHA:411511 OMIM:244450 ORPHA:2707 OMIM:243800 OMIM:615491 OMIM:618076 OMIM:620028 OMIM:618744 ORPHA:79234 OMIM:616801 OMIM:276880 ORPHA:210128 OMIM:618513 ORPHA:500055 OMIM:616863 ORPHA:401795 OMIM:300968 ORPHA:480880 ORPHA:251282 OMIM:618323 OMIM:108600 OMIM:615917 OMIM:224050 OMIM:310440 ORPHA:2388 ORPHA:193 ORPHA:95434 OMIM:607317 ORPHA:505248 OMIM:617303 OMIM:619389 OMIM:619273 OMIM:619685 OMIM:618606 OMIM:615851 OMIM:616948 OMIM:616708 ORPHA:284169 ORPHA:466950 OMIM:617710 ORPHA:572798 OMIM:618707 OMIM:615817 ORPHA:513456 OMIM:617616 OMIM:613610 ORPHA:329284 OMIM:300894 ORPHA:401800 OMIM:251300 OMIM:610185 OMIM:222300 ORPHA:284282 OMIM:614322 OMIM:617633 OMIM:616541 ORPHA:85194 OMIM:605822 ORPHA:1473 OMIM:619418 OMIM:613561 OMIM:617302 OMIM:617557 ORPHA:506358 OMIM:259050 ORPHA:3454 OMIM:314580 OMIM:301041 OMIM:300799 OMIM:235730 ORPHA:261552 ORPHA:261537 ORPHA:100996 OMIM:270700 OMIM:616602 OMIM:618736 OMIM:618659 OMIM:619188 OMIM:619557 OMIM:619488 OMIM:617865

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

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