Human Phenotype Ontology 
Grandparent Node:
expand
Abnormality of eye movement (HP:0000496)help
Parent Node:
expand
Abnormal conjugate eye movement (HP:0000549)help
..Starting node
..expand
Strabismus (HP:0000486)help
Term ID: 486
Name: Strabismus
Synonym: Cross-eyed; Squint; Squint eyes
Definition: A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error.
Comments:
Reference: HP:0000486
Genes and Diseases:
 
       Child Nodes:
........expandCongenital strabismus (HP:0000487) help
................... HP:0008033 Congenital exotropia
........expandUnilateral strabismus (HP:0010877) help
........expandEsodeviation (HP:0020045) help
................... HP:0000565 Esotropia
................... HP:0025312 Esophoria
........expandExodeviation (HP:0020049) help
................... HP:0000577 Exotropia
................... HP:0025313 Exophoria
........expandIncomitant strabismus (HP:0025068) help
................... HP:0009921 Duane anomaly
................... HP:0020041 Double elevator palsy
................... HP:0020042 Double depressor palsy
................... HP:0020043 Vertically incomitant strabismus
................... HP:0020044 Horizontally incomitant strabismus
................... HP:0031622 Brown anomaly
........expandConcomitant strabismus (HP:0025069) help
........expandHyperdeviation (HP:0025587) help
................... HP:0025585 Hyperphoria
................... HP:0025586 Hypertropia
........expandHypodeviation (HP:0025588) help
................... HP:0025584 Hypotropia
................... HP:0031725 Hypophoria
........expandCyclodeviation (HP:0025589) help
................... HP:0031776 Cyclotropia
................... HP:0031777 Cyclophoria
........expandMicrotropia (HP:0031724) help
................... HP:0031781 Microtropia with identity
................... HP:0031782 Microtropia without identity
........expandNeurogenic strabismus (HP:0031775) help

 Sister Nodes: 
..expandImpaired convergence (HP:0000619) help
..expandSupranuclear gaze palsy (HP:0000605) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000486HP:0000486Strabismus0AARS1 CL E G H1620OMIM:619691TRICHOTHIODYSTROPHY 8, NONPHOTOSENSITIVE; TTD8
HP:0000486HP:0000486Strabismus0AASS CL E G H1015717366ORPHA:2203HyperlysinemiaHP:0040283 - Occasional15
HP:0000486HP:0000486Strabismus0ABCB7 CL E G H2248ORPHA:2802X-linked sideroblastic anemia and spinocerebellar ataxiaHP:0040283 - Occasional35
HP:0000486HP:0000486Strabismus0ABCC8 CL E G H683359OMIM:240800Hypoglycemia of infancy, leucine-sensitive.245
HP:0000486HP:0000486Strabismus0ABCC9 CL E G H1006060OMIM:619719INTELLECTUAL DISABILITY AND MYOPATHY SYNDROME; IDMYS254
HP:0000486HP:0000486Strabismus0ABHD5 CL E G H5109921396OMIM:275630Chanarin-Dorfman syndrome.90
HP:0000486HP:0000486Strabismus0ABHD5 CL E G H5109921396ORPHA:98907Neutral lipid storage disease with ichthyosisHP:0040282 - Frequent90
HP:0000486HP:0000486Strabismus0ACADSB CL E G H3691OMIM:6100062-Methylbutyryl-Coa dehydrogenase deficiency111
HP:0000486HP:0000486Strabismus0ACKR3 CL E G H5700723692OMIM:619215OCULOMOTOR-ABDUCENS SYNKINESIS; OCABSN
HP:0000486HP:0000486Strabismus0ACO2 CL E G H50118OMIM:614559INFANTILE CEREBELLAR-RETINAL DEGENERATION; ICRD60
HP:0000486HP:0000486Strabismus0ACOX1 CL E G H51119OMIM:264470Peroxisomal acyl-coa oxidase deficiency.120
HP:0000486HP:0000486Strabismus0ACOX1 CL E G H51119ORPHA:2971Peroxisomal acyl-CoA oxidase deficiencyHP:0040282 - Frequent120
HP:0000486HP:0000486Strabismus0ACSL4 CL E G H21823571ORPHA:86818Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndromeHP:0040283 - Occasional19
HP:0000486HP:0000486Strabismus0ADA2 CL E G H518161839ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare22
HP:0000486HP:0000486Strabismus0ADARB1 CL E G H104226OMIM:618862NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, MICROCEPHALY, AND SEIZURES; NEDHYMS1
HP:0000486HP:0000486Strabismus0ADAT3 CL E G H11317925151ORPHA:363528Intellectual disability-strabismus syndromeHP:0040281 - Very frequent9
HP:0000486HP:0000486Strabismus0ADAT3 CL E G H11317925151OMIM:615286Mental retardation, autosomal recessive 36.9
HP:0000486HP:0000486Strabismus0ADD3 CL E G H120245OMIM:617008Cerebral palsy, spastic quadriplegic, 3.3
HP:0000486HP:0000486Strabismus0ADGRG1 CL E G H92894512ORPHA:101070Bilateral frontoparietal polymicrogyriaHP:0040283 - Occasional88
HP:0000486HP:0000486Strabismus0ADGRG1 CL E G H92894512OMIM:606854Polymicrogyria, bilateral frontoparietal88
HP:0000486HP:0000486Strabismus0ADNP CL E G H2339415766ORPHA:404448ADNP syndromeHP:0040283 - Occasional47
HP:0000486HP:0000486Strabismus0ADNP CL E G H2339415766OMIM:615873Helsmoortel-van der Aa syndrome.47
HP:0000486HP:0000486Strabismus0ADPRS CL E G H5493621304OMIM:618170Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures.
HP:0000486HP:0000486Strabismus0ADSL CL E G H158291OMIM:103050Adenylosuccinase deficiency.118
HP:0000486HP:0000486Strabismus0AEBP1 CL E G H165303ORPHA:536532Classical-like Ehlers-Danlos syndrome type 2HP:0040283 - Occasional
HP:0000486HP:0000486Strabismus0AFF3 CL E G H38996473OMIM:619297KINSSHIP SYNDROME; KINS1
HP:0000486HP:0000486Strabismus0AFF4 CL E G H2712517869ORPHA:444077Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndromeHP:0040283 - Occasional6
HP:0000486HP:0000486Strabismus0AGK CL E G H5575021869ORPHA:1369Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndromeHP:0040281 - Very frequent82
HP:0000486HP:0000486Strabismus0AGK CL E G H5575021869OMIM:212350Sengers syndrome.82
HP:0000486HP:0000486Strabismus0AGO2 CL E G H271613263OMIM:619149LESSEL-KREIENKAMP SYNDROME; LESKRES
HP:0000486HP:0000486Strabismus0AGRN CL E G H375790329ORPHA:98914Presynaptic congenital myasthenic syndromes127
HP:0000486HP:0000486Strabismus0AGTPBP1 CL E G H2328717258OMIM:618276Neurodegeneration, childhood-onset, with cerebellar atrophy.1
HP:0000486HP:0000486Strabismus0AGTPBP1 CL E G H2328717258ORPHA:2254Pontocerebellar hypoplasia type 11
HP:0000486HP:0000486Strabismus0AHCY CL E G H191343ORPHA:88618S-adenosylhomocysteine hydrolase deficiencyHP:0040282 - Frequent31
HP:0000486HP:0000486Strabismus0AHDC1 CL E G H2724525230ORPHA:412069AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndromeHP:0040282 - Frequent36
HP:0000486HP:0000486Strabismus0AHDC1 CL E G H2724525230OMIM:615829Xia-Gibbs syndrome36
HP:0000486HP:0000486Strabismus0AHI1 CL E G H5480621575ORPHA:475Joubert syndromeHP:0040283 - Occasional175
HP:0000486HP:0000486Strabismus0AHI1 CL E G H5480621575ORPHA:220493Joubert syndrome with ocular defectHP:0040283 - Occasional175
HP:0000486HP:0000486Strabismus0AKT1 CL E G H207391ORPHA:744Proteus syndromeHP:0040283 - Occasional54
HP:0000486HP:0000486Strabismus0ALDH18A1 CL E G H58329722ORPHA:90348Autosomal dominant cutis laxa89
HP:0000486HP:0000486Strabismus0ALDH18A1 CL E G H58329722OMIM:616603Cutis laxa, autosomal dominant 3HP:0040283 - Occasional89
HP:0000486HP:0000486Strabismus0ALDH18A1 CL E G H58329722OMIM:219150Cutis laxa, autosomal recessive, type IIIA.89
HP:0000486HP:0000486Strabismus0ALDH1A3 CL E G H220409ORPHA:35612NanophthalmosHP:0040281 - Very frequent10
HP:0000486HP:0000486Strabismus0ALDH3A2 CL E G H224403OMIM:270200Sjogren-Larsson syndrome87
HP:0000486HP:0000486Strabismus0ALDH7A1 CL E G H501877OMIM:266100Epilepsy, pyridoxine-dependent227
HP:0000486HP:0000486Strabismus0ALG1 CL E G H5605218294ORPHA:79327ALG1-CDGHP:0040282 - Frequent58
HP:0000486HP:0000486Strabismus0ALG11 CL E G H44013832456ORPHA:280071ALG11-CDGHP:0040283 - Occasional41
HP:0000486HP:0000486Strabismus0ALG11 CL E G H44013832456OMIM:613661Congenital disorder of glycosylation, type Ip.41
HP:0000486HP:0000486Strabismus0ALG12 CL E G H7908719358ORPHA:79324ALG12-CDGHP:0040283 - Occasional68
HP:0000486HP:0000486Strabismus0ALG2 CL E G H8536523159ORPHA:79326ALG2-CDG46
HP:0000486HP:0000486Strabismus0ALG2 CL E G H8536523159OMIM:607906Congenital disorder of glycosylation, type Ii46
HP:0000486HP:0000486Strabismus0ALG3 CL E G H1019523056OMIM:601110Congenital disorder of glycosylation, type Id.37
HP:0000486HP:0000486Strabismus0ALG6 CL E G H2992923157ORPHA:79320ALG6-CDGHP:0040283 - Occasional66
HP:0000486HP:0000486Strabismus0ALG6 CL E G H2992923157OMIM:603147Congenital disorder of glycosylation, type Ic.66
HP:0000486HP:0000486Strabismus0ALG9 CL E G H7979615672ORPHA:79328ALG9-CDG93
HP:0000486HP:0000486Strabismus0ALG9 CL E G H7979615672OMIM:608776Congenital disorder of glycosylation, type Il93
HP:0000486HP:0000486Strabismus0ALX3 CL E G H257449ORPHA:391474FrontorhinyHP:0040282 - Frequent9
HP:0000486HP:0000486Strabismus0ALX4 CL E G H60529450OMIM:613451Frontonasal dysplasia 2132
HP:0000486HP:0000486Strabismus0ALX4 CL E G H60529450ORPHA:228390Frontonasal dysplasia-alopecia-genital anomalies syndromeHP:0040281 - Very frequent132
HP:0000486HP:0000486Strabismus0ALX4 CL E G H60529450ORPHA:52022Potocki-Shaffer syndromeHP:0040282 - Frequent132
HP:0000486HP:0000486Strabismus0AMMECR1 CL E G H9949467ORPHA:86818Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndromeHP:0040283 - Occasional2
HP:0000486HP:0000486Strabismus0AMMECR1 CL E G H9949467OMIM:300990Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis2
HP:0000486HP:0000486Strabismus0ANAPC7 CL E G H5143417380OMIM:619699FERGUSON-BONNI NEURODEVELOPMENTAL SYNDROME; FERBON
HP:0000486HP:0000486Strabismus0ANKRD11 CL E G H2912321316ORPHA:26125016q24.3 microdeletion syndromeHP:0040283 - Occasional102
HP:0000486HP:0000486Strabismus0ANKRD11 CL E G H2912321316ORPHA:2332KBG syndromeHP:0040282 - Frequent102
HP:0000486HP:0000486Strabismus0ANKRD17 CL E G H2605723575OMIM:619504CHOPRA-AMIEL-GORDON SYNDROME; CAGS2
HP:0000486HP:0000486Strabismus0ANTXR1 CL E G H8416821014OMIM:230740Gapo syndrome.8
HP:0000486HP:0000486Strabismus0AP1G1 CL E G H164555OMIM:619467USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL DOMINANT; USRISD
HP:0000486HP:0000486Strabismus0AP1S2 CL E G H8905560ORPHA:1568X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndromeHP:0040281 - Very frequent13
HP:0000486HP:0000486Strabismus0AP3B1 CL E G H8546566OMIM:608233Hermansky-Pudlak syndrome 2.83
HP:0000486HP:0000486Strabismus0AP3D1 CL E G H8943568ORPHA:1000Ocular albinism with late-onset sensorineural deafnessHP:0040282 - Frequent1
HP:0000486HP:0000486Strabismus0AP3D1 CL E G H8943568ORPHA:54X-linked recessive ocular albinismHP:0040282 - Frequent1
HP:0000486HP:0000486Strabismus0AP4B1 CL E G H10717572ORPHA:280763Severe intellectual disability and progressive spastic paraplegiaHP:0040284 - Very rare49
HP:0000486HP:0000486Strabismus0AP4E1 CL E G H23431573ORPHA:280763Severe intellectual disability and progressive spastic paraplegiaHP:0040284 - Very rare48
HP:0000486HP:0000486Strabismus0AP4M1 CL E G H9179574ORPHA:280763Severe intellectual disability and progressive spastic paraplegiaHP:0040284 - Very rare41
HP:0000486HP:0000486Strabismus0AP4M1 CL E G H9179574OMIM:612936Spastic paraplegia 50, autosomal recessive.41
HP:0000486HP:0000486Strabismus0AP4S1 CL E G H11154575ORPHA:280763Severe intellectual disability and progressive spastic paraplegiaHP:0040284 - Very rare18
HP:0000486HP:0000486Strabismus0APC CL E G H324583ORPHA:99818Turcot syndrome with polyposis3179
HP:0000486HP:0000486Strabismus0APC2 CL E G H1029724036ORPHA:821Sotos syndromeHP:0040284 - Very rare1
HP:0000486HP:0000486Strabismus0ARCN1 CL E G H372649OMIM:617164Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay3
HP:0000486HP:0000486Strabismus0ARHGAP31 CL E G H5751429216ORPHA:974Adams-Oliver syndromeHP:0040282 - Frequent147
HP:0000486HP:0000486Strabismus0ARHGAP31 CL E G H5751429216OMIM:100300Adams-Oliver syndrome 1147
HP:0000486HP:0000486Strabismus0ARHGEF2 CL E G H9181682OMIM:617523Neurodevelopmental disorder with midbrain and hindbrain malformations.1
HP:0000486HP:0000486Strabismus0ARID1A CL E G H828911110ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent88
HP:0000486HP:0000486Strabismus0ARID1A CL E G H828911110OMIM:614607Coffin-Siris syndrome 288
HP:0000486HP:0000486Strabismus0ARID1B CL E G H5749218040ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent219
HP:0000486HP:0000486Strabismus0ARID1B CL E G H5749218040OMIM:135900Coffin-Siris syndrome 1219
HP:0000486HP:0000486Strabismus0ARID2 CL E G H19652818037ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent25
HP:0000486HP:0000486Strabismus0ARL13B CL E G H20089425419ORPHA:475Joubert syndromeHP:0040283 - Occasional62
HP:0000486HP:0000486Strabismus0ARL3 CL E G H403694ORPHA:475Joubert syndromeHP:0040283 - Occasional1
HP:0000486HP:0000486Strabismus0ARL6 CL E G H8410013210OMIM:209900Bardet-Biedl syndrome 1.29
HP:0000486HP:0000486Strabismus0ARMC9 CL E G H8021020730ORPHA:475Joubert syndromeHP:0040283 - Occasional
HP:0000486HP:0000486Strabismus0ARNT2 CL E G H991516876ORPHA:3157Septo-optic dysplasia spectrumHP:0040282 - Frequent
HP:0000486HP:0000486Strabismus0ARPC4 CL E G H10093707OMIM:620141
HP:0000486HP:0000486Strabismus0ARVCF CL E G H421728ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional1
HP:0000486HP:0000486Strabismus0ARX CL E G H17030218060ORPHA:2508Corpus callosum agenesis-abnormal genitalia syndromeHP:0040282 - Frequent166
HP:0000486HP:0000486Strabismus0ARX CL E G H17030218060OMIM:300004Corpus callosum, agenesis of, with abnormal genitalia.166
HP:0000486HP:0000486Strabismus0ARX CL E G H17030218060ORPHA:1934Early infantile epileptic encephalopathyHP:0040284 - Very rare166
HP:0000486HP:0000486Strabismus0ARX CL E G H17030218060OMIM:300215Lissencephaly, X-linked, 2166
HP:0000486HP:0000486Strabismus0ASCL1 CL E G H429738ORPHA:99803Haddad syndromeHP:0040281 - Very frequent15
HP:0000486HP:0000486Strabismus0ASH1L CL E G H5587019088OMIM:617796Mental retardation, autosomal dominant 521
HP:0000486HP:0000486Strabismus0ASXL1 CL E G H17102318318OMIM:605039Bohring-Opitz syndrome.145
HP:0000486HP:0000486Strabismus0ASXL3 CL E G H8081629357ORPHA:352577Bainbridge-Ropers syndromeHP:0040282 - Frequent49
HP:0000486HP:0000486Strabismus0ASXL3 CL E G H8081629357OMIM:615485BAINBRIDGE-ROPERS SYNDROME; BRPS49
HP:0000486HP:0000486Strabismus0ATAD3A CL E G H5521025567OMIM:617183Harel-Yoon syndrome5
HP:0000486HP:0000486Strabismus0ATAD3A CL E G H5521025567ORPHA:496790Ocular anomalies-axonal neuropathy-developmental delay syndrome5
HP:0000486HP:0000486Strabismus0ATG7 CL E G H1053316935OMIM:619422SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 31; SCAR311
HP:0000486HP:0000486Strabismus0ATM CL E G H472795ORPHA:100Ataxia-telangiectasiaHP:0040281 - Very frequent3267
HP:0000486HP:0000486Strabismus0ATM CL E G H472795OMIM:208900ATAXIA-TELANGIECTASIA.3267
HP:0000486HP:0000486Strabismus0ATOH7 CL E G H22020213907ORPHA:91495Persistent hyperplastic primary vitreous4
HP:0000486HP:0000486Strabismus0ATOH7 CL E G H22020213907OMIM:221900Persistent hyperplastic primary vitreous, autosomal recessive4
HP:0000486HP:0000486Strabismus0ATP13A2 CL E G H2340030213ORPHA:513436Autosomal recessive spastic paraplegia type 78HP:0040281 - Very frequent100
HP:0000486HP:0000486Strabismus0ATP13A2 CL E G H2340030213OMIM:617225SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE; SPG78100
HP:0000486HP:0000486Strabismus0ATP1A2 CL E G H477800ORPHA:2131Alternating hemiplegia of childhood239
HP:0000486HP:0000486Strabismus0ATP1A3 CL E G H478801ORPHA:2131Alternating hemiplegia of childhood150
HP:0000486HP:0000486Strabismus0ATP1A3 CL E G H478801OMIM:619606DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 99; DEE99150
HP:0000486HP:0000486Strabismus0ATP2B3 CL E G H492816OMIM:302500Spinocerebellar ataxia, X-linked 1.19
HP:0000486HP:0000486Strabismus0ATP2B3 CL E G H492816ORPHA:314978X-linked non progressive cerebellar ataxiaHP:0040282 - Frequent19
HP:0000486HP:0000486Strabismus0ATP6V0A2 CL E G H2354518481ORPHA:357074Autosomal recessive cutis laxa type 2, classic typeHP:0040282 - Frequent140
HP:0000486HP:0000486Strabismus0ATP6V0A2 CL E G H2354518481OMIM:219200Cutis laxa, autosomal recessive, type IIA.140
HP:0000486HP:0000486Strabismus0ATP6V1A CL E G H523851ORPHA:357074Autosomal recessive cutis laxa type 2, classic typeHP:0040282 - Frequent3
HP:0000486HP:0000486Strabismus0ATP6V1B2 CL E G H526854ORPHA:79500DOORS syndromeHP:0040284 - Very rare5
HP:0000486HP:0000486Strabismus0ATP6V1E1 CL E G H529857ORPHA:357074Autosomal recessive cutis laxa type 2, classic typeHP:0040282 - Frequent2
HP:0000486HP:0000486Strabismus0ATP8A2 CL E G H5176113533ORPHA:1766Dysequilibrium syndromeHP:0040282 - Frequent24
HP:0000486HP:0000486Strabismus0ATR CL E G H545882OMIM:210600Seckel syndrome 1.168
HP:0000486HP:0000486Strabismus0ATRX CL E G H546886OMIM:309580Mental retardation-hypotonic facies syndrome, X-linked, 1169
HP:0000486HP:0000486Strabismus0AUTS2 CL E G H2605314262ORPHA:352490Autism spectrum disorder due to AUTS2 deficiencyHP:0040282 - Frequent61
HP:0000486HP:0000486Strabismus0AUTS2 CL E G H2605314262OMIM:615834Mental retardation, autosomal dominant 26.61
HP:0000486HP:0000486Strabismus0B3GALNT2 CL E G H14878928596ORPHA:588Muscle-eye-brain diseaseHP:0040281 - Very frequent43
HP:0000486HP:0000486Strabismus0B3GAT3 CL E G H26229923OMIM:245600Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects5
HP:0000486HP:0000486Strabismus0B9D1 CL E G H2707724123ORPHA:475Joubert syndromeHP:0040283 - Occasional28
HP:0000486HP:0000486Strabismus0B9D2 CL E G H8077628636ORPHA:475Joubert syndromeHP:0040283 - Occasional34
HP:0000486HP:0000486Strabismus0BAP1 CL E G H8314950OMIM:619762KURY-ISIDOR SYNDROME; KURIS184
HP:0000486HP:0000486Strabismus0BAZ1B CL E G H9031961ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0000486HP:0000486Strabismus0BBS1 CL E G H582966OMIM:209900Bardet-Biedl syndrome 1.114
HP:0000486HP:0000486Strabismus0BBS9 CL E G H2724130000OMIM:615986BARDET-BIEDL SYNDROME 9; BBS9119
HP:0000486HP:0000486Strabismus0BCAP31 CL E G H1013416695OMIM:300475Deafness, dystonia, and cerebral hypomyelination.8
HP:0000486HP:0000486Strabismus0BCAP31 CL E G H1013416695ORPHA:369939Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndromeHP:0040282 - Frequent8
HP:0000486HP:0000486Strabismus0BCAS3 CL E G H5482814347OMIM:619641HENGEL-MAROOFIAN-SCHOLS SYNDROME; HEMARS2
HP:0000486HP:0000486Strabismus0BCL11A CL E G H5333513221OMIM:617101Intellectual developmental disorder with persistence of fetal hemoglobin.11
HP:0000486HP:0000486Strabismus0BCL7B CL E G H92751005ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0000486HP:0000486Strabismus0BCOR CL E G H5488020893OMIM:300166Microphthalmia, syndromic 2101
HP:0000486HP:0000486Strabismus0BCORL1 CL E G H6303525657OMIM:301029Shukla-Vernon syndrome.17
HP:0000486HP:0000486Strabismus0BEST1 CL E G H743912703ORPHA:35612NanophthalmosHP:0040281 - Very frequent182
HP:0000486HP:0000486Strabismus0BEST1 CL E G H743912703OMIM:193220VITREORETINOCHOROIDOPATHY.182
HP:0000486HP:0000486Strabismus0BICRA CL E G H299984332OMIM:619325COFFIN-SIRIS SYNDROME 12; CSS122
HP:0000486HP:0000486Strabismus0BLOC1S3 CL E G H38855220914OMIM:614077Hermansky-Pudlak syndrome 842
HP:0000486HP:0000486Strabismus0BLOC1S5 CL E G H6391518561OMIM:619172HERMANSKY-PUDLAK SYNDROME 11; HPS11
HP:0000486HP:0000486Strabismus0BLTP1 CL E G H8416226953OMIM:617822Alkuraya-Kucinskas syndrome.
HP:0000486HP:0000486Strabismus0BPTF CL E G H21863581OMIM:617755NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES; NEDDFL2
HP:0000486HP:0000486Strabismus0BRAF CL E G H6731097ORPHA:1340Cardiofaciocutaneous syndromeHP:0040282 - Frequent276
HP:0000486HP:0000486Strabismus0BRAF CL E G H6731097OMIM:115150Cardiofaciocutaneous syndrome 1276
HP:0000486HP:0000486Strabismus0BRAF CL E G H6731097OMIM:613706Noonan syndrome 7276
HP:0000486HP:0000486Strabismus0BRCA1 CL E G H6721100ORPHA:84Fanconi anemiaHP:0040283 - Occasional5769
HP:0000486HP:0000486Strabismus0BRCA2 CL E G H6751101ORPHA:84Fanconi anemiaHP:0040283 - Occasional7642
HP:0000486HP:0000486Strabismus0BRD4 CL E G H2347613575ORPHA:199Cornelia de Lange syndromeHP:0040283 - Occasional
HP:0000486HP:0000486Strabismus0BRF1 CL E G H297211551ORPHA:444072Cerebellar-facial-dental syndromeHP:0040283 - Occasional7
HP:0000486HP:0000486Strabismus0BRF1 CL E G H297211551OMIM:616202Cerebellofaciodental syndrome7
HP:0000486HP:0000486Strabismus0BRIP1 CL E G H8399020473ORPHA:84Fanconi anemiaHP:0040283 - Occasional1086
HP:0000486HP:0000486Strabismus0BRPF1 CL E G H786214255OMIM:617333Intellectual developmental disorder with dysmorphic facies and ptosis.10
HP:0000486HP:0000486Strabismus0BUD23 CL E G H11404916405ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0000486HP:0000486Strabismus0CA8 CL E G H7671382OMIM:613227Cerebellar ataxia, mental retardation, and dysequilibrium syndrome3.8
HP:0000486HP:0000486Strabismus0CA8 CL E G H7671382ORPHA:1766Dysequilibrium syndromeHP:0040282 - Frequent8
HP:0000486HP:0000486Strabismus0CABP4 CL E G H570101386OMIM:610427Cone-Rod synaptic disorder, congenital nonprogressiveHP:0040283 - Occasional94
HP:0000486HP:0000486Strabismus0CABP4 CL E G H570101386ORPHA:215Congenital stationary night blindnessHP:0040282 - Frequent94
HP:0000486HP:0000486Strabismus0CACNA1A CL E G H7731388ORPHA:2131Alternating hemiplegia of childhood449
HP:0000486HP:0000486Strabismus0CACNA1A CL E G H7731388OMIM:617106Epileptic encephalopathy, early infantile, 42.449
HP:0000486HP:0000486Strabismus0CACNA1B CL E G H7741389OMIM:618497Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements.5
HP:0000486HP:0000486Strabismus0CACNA1F CL E G H7781393ORPHA:215Congenital stationary night blindnessHP:0040282 - Frequent58
HP:0000486HP:0000486Strabismus0CACNA1F CL E G H7781393OMIM:300071Night blindness, congenital stationary, type 2A58
HP:0000486HP:0000486Strabismus0CACNA1G CL E G H89131394OMIM:618087Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits.32
HP:0000486HP:0000486Strabismus0CACNA1G CL E G H89131394ORPHA:458803Spinocerebellar ataxia type 42HP:0040283 - Occasional32
HP:0000486HP:0000486Strabismus0CACNA2D2 CL E G H92541400OMIM:618501Cerebellar atrophy with seizures and variable developmental delay.48
HP:0000486HP:0000486Strabismus0CACNA2D4 CL E G H9358920202ORPHA:215Congenital stationary night blindnessHP:0040282 - Frequent129
HP:0000486HP:0000486Strabismus0CAMK2A CL E G H8151460OMIM:617798Mental retardation, autosomal dominant 53.1
HP:0000486HP:0000486Strabismus0CAMK2B CL E G H8161461OMIM:617799Mental retardation, autosomal dominant 54.
HP:0000486HP:0000486Strabismus0CAMK2G CL E G H8181463OMIM:618522Intellectual developmental disorder 591
HP:0000486HP:0000486Strabismus0CAMTA1 CL E G H2326118806OMIM:614756Cerebellar ataxia, nonprogressive, with mental retardationHP:0040283 - Occasional34
HP:0000486HP:0000486Strabismus0CAMTA1 CL E G H2326118806ORPHA:314647Non-progressive cerebellar ataxia with intellectual disabilityHP:0040282 - Frequent34
HP:0000486HP:0000486Strabismus0CARS1 CL E G H8331493ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional
HP:0000486HP:0000486Strabismus0CASK CL E G H85731497ORPHA:1934Early infantile epileptic encephalopathyHP:0040284 - Very rare118
HP:0000486HP:0000486Strabismus0CASK CL E G H85731497OMIM:300749Mental retardation and microcephaly with pontine and cerebellar hypoplasiaHP:0040283 - Occasional118
HP:0000486HP:0000486Strabismus0CASK CL E G H85731497ORPHA:163937X-linked intellectual disability, Najm typeHP:0040282 - Frequent118
HP:0000486HP:0000486Strabismus0CASZ1 CL E G H5489726002ORPHA:16061p36 deletion syndromeHP:0040282 - Frequent3
HP:0000486HP:0000486Strabismus0CBL CL E G H8671541ORPHA:648Noonan syndromeHP:0040282 - Frequent317
HP:0000486HP:0000486Strabismus0CBY1 CL E G H257761307ORPHA:475Joubert syndromeHP:0040283 - Occasional1
HP:0000486HP:0000486Strabismus0CC2D2A CL E G H5754529253OMIM:619111COACH SYNDROME 2; COACH2247
HP:0000486HP:0000486Strabismus0CC2D2A CL E G H5754529253ORPHA:1454Joubert syndrome with hepatic defectHP:0040283 - Occasional247
HP:0000486HP:0000486Strabismus0CC2D2A CL E G H5754529253ORPHA:2318Joubert syndrome with oculorenal defectHP:0040283 - Occasional247
HP:0000486HP:0000486Strabismus0CCDC174 CL E G H5124428033OMIM:616816Hypotonia, infantile, with psychomotor retardation1
HP:0000486HP:0000486Strabismus0CCDC28B CL E G H7914028163OMIM:209900Bardet-Biedl syndrome 1.4
HP:0000486HP:0000486Strabismus0CCNQ CL E G H9200228434OMIM:300707Toe syndactyly, telecanthus, and anogenital and renal malformations7
HP:0000486HP:0000486Strabismus0CD96 CL E G H1022516892ORPHA:1308C syndromeHP:0040282 - Frequent83
HP:0000486HP:0000486Strabismus0CD96 CL E G H1022516892OMIM:211750C syndrome.83
HP:0000486HP:0000486Strabismus0CDC42 CL E G H9981736ORPHA:487796Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndromeHP:0040283 - Occasional6
HP:0000486HP:0000486Strabismus0CDC42 CL E G H9981736OMIM:616737Takenouchi-Kosaki syndrome6
HP:0000486HP:0000486Strabismus0CDC42BPB CL E G H95781738OMIM:619841
HP:0000486HP:0000486Strabismus0CDC45 CL E G H83181739OMIM:617063Meier-Gorlin syndrome 7.9
HP:0000486HP:0000486Strabismus0CDCA7 CL E G H8387914628OMIM:616910Immunodeficiency-Centromeric instability-facial anomalies syndrome 34
HP:0000486HP:0000486Strabismus0CDH11 CL E G H10091750ORPHA:1299Branchioskeletogenital syndromeHP:0040281 - Very frequent2
HP:0000486HP:0000486Strabismus0CDH11 CL E G H10091750OMIM:211380Elsahy-Waters syndrome2
HP:0000486HP:0000486Strabismus0CDH2 CL E G H10001759OMIM:618929AGENESIS OF CORPUS CALLOSUM, CARDIAC, OCULAR, AND GENITAL SYNDROME; ACOGS
HP:0000486HP:0000486Strabismus0CDH3 CL E G H10011762ORPHA:1897EEM syndromeHP:0040283 - Occasional87
HP:0000486HP:0000486Strabismus0CDK13 CL E G H86211733OMIM:617360Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder.8
HP:0000486HP:0000486Strabismus0CDK8 CL E G H10241779OMIM:618748INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA AND BEHAVIORAL ABNORMALITIES; IDDHBA
HP:0000486HP:0000486Strabismus0CDKL5 CL E G H679211411ORPHA:1934Early infantile epileptic encephalopathyHP:0040284 - Very rare405
HP:0000486HP:0000486Strabismus0CDON CL E G H5093717104ORPHA:280200Microform holoprosencephalyHP:0040283 - Occasional200
HP:0000486HP:0000486Strabismus0CENPJ CL E G H5583517272OMIM:608393Microcephaly, primary autosomal recessive, 6161
HP:0000486HP:0000486Strabismus0CEP104 CL E G H973124866ORPHA:475Joubert syndromeHP:0040283 - Occasional5
HP:0000486HP:0000486Strabismus0CEP120 CL E G H15324126690ORPHA:475Joubert syndromeHP:0040283 - Occasional7
HP:0000486HP:0000486Strabismus0CEP120 CL E G H15324126690OMIM:617761Joubert syndrome 31.7
HP:0000486HP:0000486Strabismus0CEP120 CL E G H15324126690ORPHA:220493Joubert syndrome with ocular defectHP:0040283 - Occasional7
HP:0000486HP:0000486Strabismus0CEP152 CL E G H2299529298OMIM:613823Seckel syndrome 5HP:0040283 - Occasional146
HP:0000486HP:0000486Strabismus0CEP290 CL E G H8018429021ORPHA:2318Joubert syndrome with oculorenal defectHP:0040283 - Occasional342
HP:0000486HP:0000486Strabismus0CEP41 CL E G H9568112370ORPHA:475Joubert syndromeHP:0040283 - Occasional90
HP:0000486HP:0000486Strabismus0CEP41 CL E G H9568112370ORPHA:220493Joubert syndrome with ocular defectHP:0040283 - Occasional90
HP:0000486HP:0000486Strabismus0CEP83 CL E G H5113417966OMIM:615862Nephronophthisis 18HP:0040283 - Occasional10
HP:0000486HP:0000486Strabismus0CEP85L CL E G H38711921638ORPHA:572013Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome1
HP:0000486HP:0000486Strabismus0CHAMP1 CL E G H28348920311OMIM:616579Mental retardation, autosomal dominant 40.16
HP:0000486HP:0000486Strabismus0CHAT CL E G H11031912OMIM:254210Myasthenic syndrome, congenital, 6, presynaptic.65
HP:0000486HP:0000486Strabismus0CHAT CL E G H11031912ORPHA:98914Presynaptic congenital myasthenic syndromes65
HP:0000486HP:0000486Strabismus0CHD3 CL E G H11071918OMIM:618205Snijders blok-campeau syndrome.2
HP:0000486HP:0000486Strabismus0CHD7 CL E G H5563620626ORPHA:138CHARGE syndromeHP:0040282 - Frequent515
HP:0000486HP:0000486Strabismus0CHMP1A CL E G H51198740OMIM:614961Pontocerebellar hypoplasia, type 8.19
HP:0000486HP:0000486Strabismus0CHN1 CL E G H11231943ORPHA:233Duane retraction syndromeHP:0040281 - Very frequent35
HP:0000486HP:0000486Strabismus0CHN1 CL E G H11231943OMIM:604356DUANE RETRACTION SYNDROME 2; DURS235
HP:0000486HP:0000486Strabismus0CHRNA7 CL E G H11391960ORPHA:19931815q13.3 microdeletion syndromeHP:0040283 - Occasional52
HP:0000486HP:0000486Strabismus0CHRNA7 CL E G H11391960OMIM:612001Chromosome 15q13.3 microdeletion syndrome52
HP:0000486HP:0000486Strabismus0CHRNE CL E G H11451966OMIM:605809Myasthenic syndrome, congenital, 4A, slow-channel.139
HP:0000486HP:0000486Strabismus0CHRNE CL E G H11451966OMIM:608931Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency.139
HP:0000486HP:0000486Strabismus0CHRNG CL E G H11461967ORPHA:2990Autosomal recessive multiple pterygium syndromeHP:0040283 - Occasional68
HP:0000486HP:0000486Strabismus0CHST14 CL E G H11318924464OMIM:601776Ehlers-Danlos syndrome, musculocontractural type 1.27
HP:0000486HP:0000486Strabismus0CHST14 CL E G H11318924464ORPHA:2953Musculocontractural Ehlers-Danlos syndromeHP:0040282 - Frequent27
HP:0000486HP:0000486Strabismus0CHST3 CL E G H94691971OMIM:245600Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects165
HP:0000486HP:0000486Strabismus0CLCN3 CL E G H11822021OMIM:619512NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA2
HP:0000486HP:0000486Strabismus0CLCN4 CL E G H11832022ORPHA:485350CLCN4-related X-linked intellectual disability syndromeHP:0040283 - Occasional45
HP:0000486HP:0000486Strabismus0CLCN4 CL E G H11832022OMIM:300114Raynaud-Claes syndromeHP:0040283 - Occasional45
HP:0000486HP:0000486Strabismus0CLCN6 CL E G H11852024OMIM:619173NEURODEGENERATION, CHILDHOOD-ONSET, WITH HYPOTONIA, RESPIRATORY INSUFFICIENCY, AND BRAIN IMAGING ABNORMALITIES; CONRIBA
HP:0000486HP:0000486Strabismus0CLDN11 CL E G H50108514OMIM:619328Leukodystrophy, hypomyelinating, 22
HP:0000486HP:0000486Strabismus0CLDN16 CL E G H106862037OMIM:248250Hypomagnesemia 3, renal.58
HP:0000486HP:0000486Strabismus0CLDN19 CL E G H1494612040OMIM:248190Hypomagnesemia 5, renal, with or without ocular involvement.42
HP:0000486HP:0000486Strabismus0CLIP2 CL E G H74612586ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0000486HP:0000486Strabismus0CLP1 CL E G H1097816999ORPHA:411493Pontocerebellar hypoplasia type 10HP:0040284 - Very rare7
HP:0000486HP:0000486Strabismus0CLP1 CL E G H1097816999OMIM:615803Pontocerebellar hypoplasia, type 10.7
HP:0000486HP:0000486Strabismus0CLTCL1 CL E G H82182093ORPHA:453510Congenital insensitivity to pain with severe intellectual disabilityHP:0040282 - Frequent6
HP:0000486HP:0000486Strabismus0CLTRN CL E G H5739329437ORPHA:2116Hartnup diseaseHP:0040282 - Frequent
HP:0000486HP:0000486Strabismus0CNOT3 CL E G H48497879OMIM:618672INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, AUTISM, AND DYSMORPHIC FACIES; IDDSADF
HP:0000486HP:0000486Strabismus0COG5 CL E G H1046614857ORPHA:263487COG5-CDGHP:0040283 - Occasional79
HP:0000486HP:0000486Strabismus0COG8 CL E G H8434218623ORPHA:95428COG8-CDG39
HP:0000486HP:0000486Strabismus0COG8 CL E G H8434218623OMIM:611182Congenital disorder of glycosylation, type IIh39
HP:0000486HP:0000486Strabismus0COL11A1 CL E G H13012186OMIM:154780Marshall syndrome215
HP:0000486HP:0000486Strabismus0COL11A1 CL E G H13012186ORPHA:560Marshall syndromeHP:0040283 - Occasional215
HP:0000486HP:0000486Strabismus0COL11A2 CL E G H13022187ORPHA:1427Otospondylomegaepiphyseal dysplasiaHP:0040284 - Very rare222
HP:0000486HP:0000486Strabismus0COL12A1 CL E G H13032188ORPHA:75840Congenital muscular dystrophy, Ullrich type65
HP:0000486HP:0000486Strabismus0COL13A1 CL E G H13052190ORPHA:98914Presynaptic congenital myasthenic syndromes6
HP:0000486HP:0000486Strabismus0COL18A1 CL E G H807812195ORPHA:1571Knobloch syndromeHP:0040283 - Occasional177
HP:0000486HP:0000486Strabismus0COL1A2 CL E G H12782198ORPHA:230851Cardiac-valvular Ehlers-Danlos syndromeHP:0040282 - Frequent243
HP:0000486HP:0000486Strabismus0COL25A1 CL E G H8457018603ORPHA:91411Congenital ptosis3
HP:0000486HP:0000486Strabismus0COL25A1 CL E G H8457018603OMIM:616219Fibrosis of extraocular muscles, congenital, 53
HP:0000486HP:0000486Strabismus0COL2A1 CL E G H12802200ORPHA:93315Spondylometaphyseal dysplasia, 'corner fracture' typeHP:0040284 - Very rare284
HP:0000486HP:0000486Strabismus0COL4A1 CL E G H12822202OMIM:175780Brain small vessel disease 1 with or without ocular anomalies193
HP:0000486HP:0000486Strabismus0COL4A2 CL E G H12842203OMIM:614483PORENCEPHALY 2; POREN2147
HP:0000486HP:0000486Strabismus0COL6A1 CL E G H12912211ORPHA:75840Congenital muscular dystrophy, Ullrich type442
HP:0000486HP:0000486Strabismus0COL6A2 CL E G H12922212ORPHA:75840Congenital muscular dystrophy, Ullrich type478
HP:0000486HP:0000486Strabismus0COL6A3 CL E G H12932213ORPHA:75840Congenital muscular dystrophy, Ullrich type702
HP:0000486HP:0000486Strabismus0COL8A2 CL E G H12962216ORPHA:98973Posterior polymorphous corneal dystrophy3
HP:0000486HP:0000486Strabismus0COLEC11 CL E G H7898917213OMIM:2650503mc syndrome 2.9
HP:0000486HP:0000486Strabismus0COMT CL E G H13122228ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional6
HP:0000486HP:0000486Strabismus0COQ8A CL E G H5699716812ORPHA:139485Autosomal recessive ataxia due to ubiquinone deficiencyHP:0040283 - Occasional136
HP:0000486HP:0000486Strabismus0COX15 CL E G H13552263ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent104
HP:0000486HP:0000486Strabismus0CPLANE1 CL E G H6525025801ORPHA:475Joubert syndromeHP:0040283 - Occasional
HP:0000486HP:0000486Strabismus0CPLANE1 CL E G H6525025801ORPHA:2754Orofaciodigital syndrome type 6
HP:0000486HP:0000486Strabismus0CPLANE1 CL E G H6525025801OMIM:277170Orofaciodigital syndrome VI
HP:0000486HP:0000486Strabismus0CPLX1 CL E G H108152309ORPHA:280Wolf-Hirschhorn syndromeHP:0040283 - Occasional1
HP:0000486HP:0000486Strabismus0CPLX1 CL E G H108152309OMIM:194190Wolf-Hirschhorn syndrome1
HP:0000486HP:0000486Strabismus0CPSF3 CL E G H516922326OMIM:619876
HP:0000486HP:0000486Strabismus0CRB1 CL E G H234182343ORPHA:35612NanophthalmosHP:0040281 - Very frequent156
HP:0000486HP:0000486Strabismus0CRB1 CL E G H234182343OMIM:172870Pigmented paravenous chorioretinal atrophy156
HP:0000486HP:0000486Strabismus0CRB1 CL E G H234182343OMIM:600105Retinitis pigmentosa 12156
HP:0000486HP:0000486Strabismus0CREBBP CL E G H13872348OMIM:618332MENKE-HENNEKAM SYNDROME 1; MKHK1291
HP:0000486HP:0000486Strabismus0CREBBP CL E G H13872348OMIM:180849Rubinstein-Taybi syndrome 1291
HP:0000486HP:0000486Strabismus0CREBBP CL E G H13872348ORPHA:353277Rubinstein-Taybi syndrome due to CREBBP mutationsHP:0040283 - Occasional291
HP:0000486HP:0000486Strabismus0CRIPT CL E G H941914312OMIM:615789Short stature with microcephaly and distinctive facies4
HP:0000486HP:0000486Strabismus0CRYAA CL E G H14092388OMIM:604219Cataract 9, multiple types.33
HP:0000486HP:0000486Strabismus0CSPP1 CL E G H7984826193ORPHA:475Joubert syndromeHP:0040283 - Occasional57
HP:0000486HP:0000486Strabismus0CSPP1 CL E G H7984826193OMIM:615636Joubert syndrome 21.57
HP:0000486HP:0000486Strabismus0CSPP1 CL E G H7984826193ORPHA:397715Joubert syndrome with Jeune asphyxiating thoracic dystrophy57
HP:0000486HP:0000486Strabismus0CTBP1 CL E G H14872494OMIM:194190Wolf-Hirschhorn syndrome2
HP:0000486HP:0000486Strabismus0CTBP1 CL E G H14872494ORPHA:280Wolf-Hirschhorn syndromeHP:0040283 - Occasional2
HP:0000486HP:0000486Strabismus0CTCF CL E G H1066413723ORPHA:363611CTCF-related neurodevelopmental disorderHP:0040282 - Frequent20
HP:0000486HP:0000486Strabismus0CTCF CL E G H1066413723OMIM:615502Mental retardation, autosomal dominant 21.20
HP:0000486HP:0000486Strabismus0CTDP1 CL E G H91502498ORPHA:48431Congenital cataracts-facial dysmorphism-neuropathy syndromeHP:0040282 - Frequent17
HP:0000486HP:0000486Strabismus0CTNNB1 CL E G H14992514OMIM:615075Neurodevelopmental disorder with spastic diplegia and visual defects.88
HP:0000486HP:0000486Strabismus0CTNNB1 CL E G H14992514ORPHA:404473Severe intellectual disability-progressive spastic diplegia syndromeHP:0040283 - Occasional88
HP:0000486HP:0000486Strabismus0CTSK CL E G H15132536ORPHA:763Pycnodysostosis39
HP:0000486HP:0000486Strabismus0CWF19L1 CL E G H5528025613OMIM:616127Spinocerebellar ataxia, autosomal recessive 179
HP:0000486HP:0000486Strabismus0CYB5A CL E G H15282570ORPHA:621Hereditary methemoglobinemia2
HP:0000486HP:0000486Strabismus0CYB5R3 CL E G H17272873ORPHA:621Hereditary methemoglobinemia24
HP:0000486HP:0000486Strabismus0CYB5R3 CL E G H17272873OMIM:250800Methemoglobinemia due to deficiency of methemoglobin reductase.24
HP:0000486HP:0000486Strabismus0CYP1B1 CL E G H15452597ORPHA:708Peters anomalyHP:0040284 - Very rare101
HP:0000486HP:0000486Strabismus0DACT1 CL E G H5133917748ORPHA:857Townes-Brocks syndromeHP:0040283 - Occasional2
HP:0000486HP:0000486Strabismus0DCN CL E G H16342705OMIM:610048Corneal dystrophy, congenital stromal31
HP:0000486HP:0000486Strabismus0DDB1 CL E G H16422717OMIM:619426WHITE-KERNOHAN SYNDROME; WHIKERS
HP:0000486HP:0000486Strabismus0DDB2 CL E G H16432718ORPHA:910Xeroderma pigmentosumHP:0040282 - Frequent30
HP:0000486HP:0000486Strabismus0DDHD2 CL E G H2325929106ORPHA:320380Autosomal recessive spastic paraplegia type 54HP:0040282 - Frequent29
HP:0000486HP:0000486Strabismus0DDHD2 CL E G H2325929106OMIM:615033Spastic paraplegia 54, autosomal recessive.29
HP:0000486HP:0000486Strabismus0DDOST CL E G H16502728OMIM:614507Congenital disorder of glycosylation, type IR.62
HP:0000486HP:0000486Strabismus0DDOST CL E G H16502728ORPHA:300536DDOST-CDG62
HP:0000486HP:0000486Strabismus0DDX3X CL E G H16542745OMIM:300958MENTAL RETARDATION, X-LINKED 102; MRX10257
HP:0000486HP:0000486Strabismus0DDX59 CL E G H8347925360OMIM:174300Orofaciodigital syndrome V2
HP:0000486HP:0000486Strabismus0DDX6 CL E G H16562747OMIM:618653INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES; IDDILF
HP:0000486HP:0000486Strabismus0DEAF1 CL E G H1052214677ORPHA:819Smith-Magenis syndromeHP:0040282 - Frequent33
HP:0000486HP:0000486Strabismus0DGUOK CL E G H17162858ORPHA:329314Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiencyHP:0040283 - Occasional57
HP:0000486HP:0000486Strabismus0DHCR24 CL E G H17182859ORPHA:35107DesmosterolosisHP:0040282 - Frequent72
HP:0000486HP:0000486Strabismus0DHCR24 CL E G H17182859OMIM:602398DESMOSTEROLOSIS.72
HP:0000486HP:0000486Strabismus0DHCR7 CL E G H17172860ORPHA:818Smith-Lemli-Opitz syndromeHP:0040283 - Occasional159
HP:0000486HP:0000486Strabismus0DHCR7 CL E G H17172860OMIM:270400Smith-Lemli-Opitz syndrome159
HP:0000486HP:0000486Strabismus0DHODH CL E G H17232867ORPHA:246Postaxial acrofacial dysostosisHP:0040283 - Occasional59
HP:0000486HP:0000486Strabismus0DHX30 CL E G H2290716716OMIM:617804Neurodevelopmental disorder with severe motor impairment and absent language.4
HP:0000486HP:0000486Strabismus0DHX37 CL E G H5764717210OMIM:618731NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES AND WITH OR WITHOUT VERTEBRAL OR CARDIAC ANOMALIES; NEDBAVC2
HP:0000486HP:0000486Strabismus0DISP1 CL E G H8497619711ORPHA:280200Microform holoprosencephalyHP:0040283 - Occasional22
HP:0000486HP:0000486Strabismus0DKC1 CL E G H17362890OMIM:305000Dyskeratosis congenita, X-linked.65
HP:0000486HP:0000486Strabismus0DLAT CL E G H17372896OMIM:245348Pyruvate dehydrogenase E2 deficiency82
HP:0000486HP:0000486Strabismus0DLAT CL E G H17372896ORPHA:79244Pyruvate dehydrogenase E2 deficiencyHP:0040283 - Occasional82
HP:0000486HP:0000486Strabismus0DLG3 CL E G H17412902OMIM:300850MENTAL RETARDATION, X-LINKED 90; MRX9030
HP:0000486HP:0000486Strabismus0DLG4 CL E G H17422903OMIM:618793INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 62; MRD622
HP:0000486HP:0000486Strabismus0DLK1 CL E G H87882907ORPHA:254528Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion1
HP:0000486HP:0000486Strabismus0DLL1 CL E G H285142908ORPHA:280200Microform holoprosencephalyHP:0040283 - Occasional3
HP:0000486HP:0000486Strabismus0DLL4 CL E G H545672910ORPHA:974Adams-Oliver syndromeHP:0040282 - Frequent9
HP:0000486HP:0000486Strabismus0DMXL2 CL E G H233122938ORPHA:1934Early infantile epileptic encephalopathyHP:0040284 - Very rare3
HP:0000486HP:0000486Strabismus0DNAJC30 CL E G H8427716410ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0000486HP:0000486Strabismus0DNM1L CL E G H100592973ORPHA:98673Autosomal dominant optic atrophy, classic form94
HP:0000486HP:0000486Strabismus0DNM1L CL E G H100592973ORPHA:330050DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defectHP:0040283 - Occasional94
HP:0000486HP:0000486Strabismus0DNM1L CL E G H100592973OMIM:614388Encephalopathy due to defective mitochondrial and peroxisomal fission 1.94
HP:0000486HP:0000486Strabismus0DNMBP CL E G H2326830373OMIM:618415Cataract 48
HP:0000486HP:0000486Strabismus0DNMT3A CL E G H17882978OMIM:618724HEYN-SPROUL-JACKSON SYNDROME; HESJAS44
HP:0000486HP:0000486Strabismus0DOCK6 CL E G H5757219189ORPHA:974Adams-Oliver syndromeHP:0040282 - Frequent18
HP:0000486HP:0000486Strabismus0DOCK6 CL E G H5757219189OMIM:614219Adams-Oliver syndrome 2HP:0040283 - Occasional18
HP:0000486HP:0000486Strabismus0DOHH CL E G H8347528662OMIM:620066
HP:0000486HP:0000486Strabismus0DOLK CL E G H2284523406ORPHA:91131DK1-CDG55
HP:0000486HP:0000486Strabismus0DPAGT1 CL E G H17982995OMIM:608093Congenital disorder of glycosylation, type Ij38
HP:0000486HP:0000486Strabismus0DPAGT1 CL E G H17982995ORPHA:86309DPAGT1-CDGHP:0040283 - Occasional38
HP:0000486HP:0000486Strabismus0DPF2 CL E G H59779964ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent
HP:0000486HP:0000486Strabismus0DPF2 CL E G H59779964OMIM:618027Coffin-Siris syndrome 7.
HP:0000486HP:0000486Strabismus0DPM1 CL E G H88133005OMIM:608799Congenital disorder of glycosylation, type IE.27
HP:0000486HP:0000486Strabismus0DPM1 CL E G H88133005ORPHA:79322DPM1-CDGHP:0040283 - Occasional27
HP:0000486HP:0000486Strabismus0DPM2 CL E G H88183006OMIM:615042Congenital disorder of glycosylation, type Iu.26
HP:0000486HP:0000486Strabismus0DPM2 CL E G H88183006ORPHA:329178Congenital muscular dystrophy with intellectual disability and severe epilepsyHP:0040283 - Occasional26
HP:0000486HP:0000486Strabismus0DPP6 CL E G H18043010ORPHA:2514Autosomal dominant primary microcephaly18
HP:0000486HP:0000486Strabismus0DPYD CL E G H18063012ORPHA:1675Dihydropyrimidine dehydrogenase deficiencyHP:0040283 - Occasional144
HP:0000486HP:0000486Strabismus0DPYSL5 CL E G H5689620637OMIM:619435RITSCHER-SCHINZEL SYNDROME 4; RTSC4
HP:0000486HP:0000486Strabismus0DSE CL E G H2994021144ORPHA:2953Musculocontractural Ehlers-Danlos syndromeHP:0040282 - Frequent13
HP:0000486HP:0000486Strabismus0DVL1 CL E G H18553084ORPHA:3107Autosomal dominant Robinow syndromeHP:0040283 - Occasional14
HP:0000486HP:0000486Strabismus0DVL3 CL E G H18573087ORPHA:3107Autosomal dominant Robinow syndromeHP:0040283 - Occasional5
HP:0000486HP:0000486Strabismus0DYNC2LI1 CL E G H5162624595ORPHA:289Ellis Van Creveld syndromeHP:0040282 - Frequent7
HP:0000486HP:0000486Strabismus0DYRK1A CL E G H18593091ORPHA:268261DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletionHP:0040283 - Occasional134
HP:0000486HP:0000486Strabismus0DYRK1A CL E G H18593091ORPHA:464311Intellectual disability syndrome due to a DYRK1A point mutationHP:0040283 - Occasional134
HP:0000486HP:0000486Strabismus0EBF3 CL E G H25373819087OMIM:617330HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS25
HP:0000486HP:0000486Strabismus0ECHS1 CL E G H18923151ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent33
HP:0000486HP:0000486Strabismus0EDEM3 CL E G H8026716787OMIM:619493CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 2v; CDG2V
HP:0000486HP:0000486Strabismus0EFNB1 CL E G H19473226OMIM:304110Craniofrontonasal syndrome27
HP:0000486HP:0000486Strabismus0EIF2AK3 CL E G H94513255ORPHA:1667Wolcott-Rallison syndromeHP:0040283 - Occasional65
HP:0000486HP:0000486Strabismus0EIF2S3 CL E G H19683267OMIM:300148Mehmo syndrome.8
HP:0000486HP:0000486Strabismus0EIF3F CL E G H86653275OMIM:618295Intellectual developmental disorder, autosomal recessive 67
HP:0000486HP:0000486Strabismus0EIF4H CL E G H745812741ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0000486HP:0000486Strabismus0ELN CL E G H20063327ORPHA:90348Autosomal dominant cutis laxa172
HP:0000486HP:0000486Strabismus0ELN CL E G H20063327ORPHA:904Williams syndromeHP:0040282 - Frequent172
HP:0000486HP:0000486Strabismus0ELN CL E G H20063327OMIM:194050Williams-Beuren syndrome172
HP:0000486HP:0000486Strabismus0ELOVL4 CL E G H678514415ORPHA:1955Spinocerebellar ataxia type 34HP:0040283 - Occasional62
HP:0000486HP:0000486Strabismus0EMC1 CL E G H2306528957OMIM:616875Cerebellar atrophy, visual impairment, and psychomotor retardation5
HP:0000486HP:0000486Strabismus0EMC1 CL E G H2306528957ORPHA:480898Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndromeHP:0040283 - Occasional5
HP:0000486HP:0000486Strabismus0EOGT CL E G H28520328526ORPHA:974Adams-Oliver syndromeHP:0040282 - Frequent4
HP:0000486HP:0000486Strabismus0EP300 CL E G H20333373OMIM:618333MENKE-HENNEKAM SYNDROME 2; MKHK2250
HP:0000486HP:0000486Strabismus0EP300 CL E G H20333373OMIM:180849Rubinstein-Taybi syndrome 1250
HP:0000486HP:0000486Strabismus0EP300 CL E G H20333373OMIM:613684Rubinstein-Taybi syndrome 2250
HP:0000486HP:0000486Strabismus0EP300 CL E G H20333373ORPHA:353284Rubinstein-Taybi syndrome due to EP300 haploinsufficiencyHP:0040283 - Occasional250
HP:0000486HP:0000486Strabismus0ERCC1 CL E G H20673433ORPHA:90322Cockayne syndrome type 2HP:0040283 - Occasional20
HP:0000486HP:0000486Strabismus0ERCC2 CL E G H20683434ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional106
HP:0000486HP:0000486Strabismus0ERCC2 CL E G H20683434OMIM:601675Trichothiodystrophy 1, photosensitive.106
HP:0000486HP:0000486Strabismus0ERCC2 CL E G H20683434ORPHA:910Xeroderma pigmentosumHP:0040282 - Frequent106
HP:0000486HP:0000486Strabismus0ERCC3 CL E G H20713435ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional54
HP:0000486HP:0000486Strabismus0ERCC3 CL E G H20713435ORPHA:910Xeroderma pigmentosumHP:0040282 - Frequent54
HP:0000486HP:0000486Strabismus0ERCC4 CL E G H20723436ORPHA:90321Cockayne syndrome type 1HP:0040283 - Occasional158
HP:0000486HP:0000486Strabismus0ERCC4 CL E G H20723436ORPHA:84Fanconi anemiaHP:0040283 - Occasional158
HP:0000486HP:0000486Strabismus0ERCC4 CL E G H20723436ORPHA:910Xeroderma pigmentosumHP:0040282 - Frequent158
HP:0000486HP:0000486Strabismus0ERCC5 CL E G H20733437ORPHA:910Xeroderma pigmentosumHP:0040282 - Frequent83
HP:0000486HP:0000486Strabismus0ERCC6 CL E G H20743438ORPHA:90321Cockayne syndrome type 1HP:0040283 - Occasional199
HP:0000486HP:0000486Strabismus0ERCC6 CL E G H20743438ORPHA:90322Cockayne syndrome type 2HP:0040283 - Occasional199
HP:0000486HP:0000486Strabismus0ERCC6 CL E G H20743438ORPHA:90324Cockayne syndrome type 3HP:0040283 - Occasional199
HP:0000486HP:0000486Strabismus0ERCC6 CL E G H20743438OMIM:133540Cockayne syndrome, type B.199
HP:0000486HP:0000486Strabismus0ERCC6 CL E G H20743438OMIM:278800De Sanctis-Cacchione syndrome199
HP:0000486HP:0000486Strabismus0ERCC8 CL E G H11613439OMIM:216400Cockayne syndrome A.55
HP:0000486HP:0000486Strabismus0ERCC8 CL E G H11613439ORPHA:90321Cockayne syndrome type 1HP:0040283 - Occasional55
HP:0000486HP:0000486Strabismus0ERCC8 CL E G H11613439ORPHA:90322Cockayne syndrome type 2HP:0040283 - Occasional55
HP:0000486HP:0000486Strabismus0ERCC8 CL E G H11613439ORPHA:90324Cockayne syndrome type 3HP:0040283 - Occasional55
HP:0000486HP:0000486Strabismus0ERF CL E G H20773444ORPHA:207Crouzon diseaseHP:0040282 - Frequent12
HP:0000486HP:0000486Strabismus0ERLIN2 CL E G H111601356OMIM:611225Spastic paraplegia 18, autosomal recessive.18
HP:0000486HP:0000486Strabismus0ERMARD CL E G H5578021056ORPHA:758576q terminal deletion syndromeHP:0040281 - Very frequent36
HP:0000486HP:0000486Strabismus0ERMARD CL E G H5578021056OMIM:615544Periventricular nodular heterotopia 6.36
HP:0000486HP:0000486Strabismus0EVC CL E G H21213497ORPHA:289Ellis Van Creveld syndromeHP:0040282 - Frequent209
HP:0000486HP:0000486Strabismus0EVC2 CL E G H13288419747ORPHA:289Ellis Van Creveld syndromeHP:0040282 - Frequent137
HP:0000486HP:0000486Strabismus0EXOC8 CL E G H14937124659OMIM:619076NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND BRAIN ATROPHY; NEDMISB1
HP:0000486HP:0000486Strabismus0EXOSC1 CL E G H5101317286OMIM:619304PONTOCEREBELLAR HYPOPLASIA, TYPE 1F; PCH1F
HP:0000486HP:0000486Strabismus0EXOSC2 CL E G H2340417097OMIM:617763Short stature, hearing loss, retinitis pigmentosa, and distinctive faciesHP:0040284 - Very rare
HP:0000486HP:0000486Strabismus0EXOSC3 CL E G H5101017944ORPHA:2254Pontocerebellar hypoplasia type 138
HP:0000486HP:0000486Strabismus0EXOSC3 CL E G H5101017944OMIM:614678Pontocerebellar hypoplasia, type 1B.38
HP:0000486HP:0000486Strabismus0EXOSC5 CL E G H5691524662OMIM:619576CEREBELLAR ATAXIA, BRAIN ABNORMALITIES, AND CARDIAC CONDUCTION DEFECTS; CABAC
HP:0000486HP:0000486Strabismus0EXOSC8 CL E G H1134017035ORPHA:2254Pontocerebellar hypoplasia type 14
HP:0000486HP:0000486Strabismus0EXOSC9 CL E G H53939137ORPHA:2254Pontocerebellar hypoplasia type 1
HP:0000486HP:0000486Strabismus0EXOSC9 CL E G H53939137OMIM:618065Pontocerebellar hypoplasia, type 1D
HP:0000486HP:0000486Strabismus0EXT2 CL E G H21323513ORPHA:52022Potocki-Shaffer syndromeHP:0040282 - Frequent102
HP:0000486HP:0000486Strabismus0EXT2 CL E G H21323513OMIM:616682Seizures, scoliosis, and macrocephaly/microcephaly syndrome.102
HP:0000486HP:0000486Strabismus0EZH2 CL E G H21463527OMIM:277590Weaver syndrome.81
HP:0000486HP:0000486Strabismus0FA2H CL E G H7915221197ORPHA:329308Fatty acid hydroxylase-associated neurodegenerationHP:0040283 - Occasional76
HP:0000486HP:0000486Strabismus0FA2H CL E G H7915221197OMIM:612319Spastic paraplegia 35, autosomal recessive.76
HP:0000486HP:0000486Strabismus0FAM149B1 CL E G H31766229162OMIM:618763JOUBERT SYNDROME 36; JBTS36
HP:0000486HP:0000486Strabismus0FAM149B1 CL E G H31766229162ORPHA:2754Orofaciodigital syndrome type 6
HP:0000486HP:0000486Strabismus0FAM50A CL E G H913018786OMIM:300261Mental retardation syndrome, X-linked, Armfield typeHP:0040283 - Occasional
HP:0000486HP:0000486Strabismus0FANCA CL E G H21753582OMIM:227650Fanconi anemia.340
HP:0000486HP:0000486Strabismus0FANCA CL E G H21753582ORPHA:84Fanconi anemiaHP:0040283 - Occasional340
HP:0000486HP:0000486Strabismus0FANCB CL E G H21873583ORPHA:84Fanconi anemiaHP:0040283 - Occasional58
HP:0000486HP:0000486Strabismus0FANCC CL E G H21763584ORPHA:84Fanconi anemiaHP:0040283 - Occasional410
HP:0000486HP:0000486Strabismus0FANCC CL E G H21763584OMIM:227645Fanconi anemia, complementation group C.410
HP:0000486HP:0000486Strabismus0FANCD2 CL E G H21773585ORPHA:84Fanconi anemiaHP:0040283 - Occasional147
HP:0000486HP:0000486Strabismus0FANCD2 CL E G H21773585OMIM:227646Fanconi anemia, complementation group D2147
HP:0000486HP:0000486Strabismus0FANCE CL E G H21783586ORPHA:84Fanconi anemiaHP:0040283 - Occasional73
HP:0000486HP:0000486Strabismus0FANCE CL E G H21783586OMIM:600901Fanconi anemia, complementation group E.73
HP:0000486HP:0000486Strabismus0FANCF CL E G H21883587ORPHA:84Fanconi anemiaHP:0040283 - Occasional87
HP:0000486HP:0000486Strabismus0FANCG CL E G H21893588ORPHA:84Fanconi anemiaHP:0040283 - Occasional73
HP:0000486HP:0000486Strabismus0FANCI CL E G H5521525568ORPHA:84Fanconi anemiaHP:0040283 - Occasional157
HP:0000486HP:0000486Strabismus0FANCL CL E G H5512020748ORPHA:84Fanconi anemiaHP:0040283 - Occasional53
HP:0000486HP:0000486Strabismus0FANCM CL E G H5769723168ORPHA:84Fanconi anemiaHP:0040283 - Occasional107
HP:0000486HP:0000486Strabismus0FARS2 CL E G H1066721062ORPHA:466722Autosomal recessive spastic paraplegia type 77HP:0040283 - Occasional36
HP:0000486HP:0000486Strabismus0FBLN5 CL E G H105163602ORPHA:90348Autosomal dominant cutis laxa63
HP:0000486HP:0000486Strabismus0FBN1 CL E G H22003603OMIM:154700Marfan syndrome1361
HP:0000486HP:0000486Strabismus0FBN1 CL E G H22003603ORPHA:2462Shprintzen-Goldberg syndromeHP:0040282 - Frequent1361
HP:0000486HP:0000486Strabismus0FBN1 CL E G H22003603ORPHA:2833Stiff skin syndromeHP:0040283 - Occasional1361
HP:0000486HP:0000486Strabismus0FBXL3 CL E G H2622413599OMIM:606220Intellectual developmental disorder with short stature, facial anomalies, and speech defects.
HP:0000486HP:0000486Strabismus0FBXO11 CL E G H8020413590OMIM:618089Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities.7
HP:0000486HP:0000486Strabismus0FBXO28 CL E G H2321929046OMIM:619777DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100
HP:0000486HP:0000486Strabismus0FBXW11 CL E G H2329113607OMIM:618914NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME; NEDJED
HP:0000486HP:0000486Strabismus0FBXW7 CL E G H5529416712OMIM:62001222
HP:0000486HP:0000486Strabismus0FCSK CL E G H19725829500OMIM:618324Congenital disorder of glycosylation with defective fucosylation 2.
HP:0000486HP:0000486Strabismus0FGD1 CL E G H22453663ORPHA:915Aarskog-Scott syndromeHP:0040283 - Occasional62
HP:0000486HP:0000486Strabismus0FGD1 CL E G H22453663OMIM:305400Aarskog-Scott syndrome.62
HP:0000486HP:0000486Strabismus0FGF10 CL E G H22553666ORPHA:2363Lacrimoauriculodentodigital syndrome17
HP:0000486HP:0000486Strabismus0FGF14 CL E G H22593671OMIM:193003Nystagmus 4, congenital, autosomal dominant.47
HP:0000486HP:0000486Strabismus0FGF14 CL E G H22593671ORPHA:98764Spinocerebellar ataxia type 27HP:0040283 - Occasional47
HP:0000486HP:0000486Strabismus0FGF3 CL E G H22483681ORPHA:90024Deafness with labyrinthine aplasia, microtia, and microdontiaHP:0040283 - Occasional18
HP:0000486HP:0000486Strabismus0FGF8 CL E G H22533686ORPHA:280200Microform holoprosencephalyHP:0040283 - Occasional17
HP:0000486HP:0000486Strabismus0FGFR1 CL E G H22603688ORPHA:280200Microform holoprosencephalyHP:0040283 - Occasional172
HP:0000486HP:0000486Strabismus0FGFR1 CL E G H22603688OMIM:101600Pfeiffer syndrome.172
HP:0000486HP:0000486Strabismus0FGFR1 CL E G H22603688ORPHA:3157Septo-optic dysplasia spectrumHP:0040282 - Frequent172
HP:0000486HP:0000486Strabismus0FGFR2 CL E G H22633689ORPHA:87Apert syndromeHP:0040282 - Frequent175
HP:0000486HP:0000486Strabismus0FGFR2 CL E G H22633689OMIM:101200Apert syndrome.175
HP:0000486HP:0000486Strabismus0FGFR2 CL E G H22633689ORPHA:207Crouzon diseaseHP:0040282 - Frequent175
HP:0000486HP:0000486Strabismus0FGFR2 CL E G H22633689OMIM:123500Crouzon syndrome.175
HP:0000486HP:0000486Strabismus0FGFR2 CL E G H22633689ORPHA:1540Jackson-Weiss syndromeHP:0040282 - Frequent175
HP:0000486HP:0000486Strabismus0FGFR2 CL E G H22633689ORPHA:2363Lacrimoauriculodentodigital syndrome175
HP:0000486HP:0000486Strabismus0FGFR2 CL E G H22633689OMIM:101600Pfeiffer syndrome.175
HP:0000486HP:0000486Strabismus0FGFR2 CL E G H22633689OMIM:101400Saethre-Chotzen syndrome.175
HP:0000486HP:0000486Strabismus0FGFR2 CL E G H22633689ORPHA:794Saethre-Chotzen syndromeHP:0040282 - Frequent175
HP:0000486HP:0000486Strabismus0FGFR3 CL E G H22613690OMIM:616482Achondroplasia, severe, with developmental delay and acanthosis nigricans145
HP:0000486HP:0000486Strabismus0FGFR3 CL E G H22613690ORPHA:93262Crouzon syndrome-acanthosis nigricans syndromeHP:0040282 - Frequent145
HP:0000486HP:0000486Strabismus0FGFR3 CL E G H22613690ORPHA:2363Lacrimoauriculodentodigital syndrome145
HP:0000486HP:0000486Strabismus0FGFR3 CL E G H22613690OMIM:602849Muenke syndrome145
HP:0000486HP:0000486Strabismus0FGFR3 CL E G H22613690ORPHA:794Saethre-Chotzen syndromeHP:0040282 - Frequent145
HP:0000486HP:0000486Strabismus0FGFRL1 CL E G H538343693OMIM:194190Wolf-Hirschhorn syndrome
HP:0000486HP:0000486Strabismus0FIBP CL E G H91583705ORPHA:500095Tall stature-intellectual disability-renal anomalies syndromeHP:0040283 - Occasional2
HP:0000486HP:0000486Strabismus0FIBP CL E G H91583705OMIM:617107Thauvin-Robinet-Faivre syndrome.2
HP:0000486HP:0000486Strabismus0FIG4 CL E G H989616873ORPHA:208441Bilateral parasagittal parieto-occipital polymicrogyriaHP:0040283 - Occasional111
HP:0000486HP:0000486Strabismus0FKBP6 CL E G H84683722ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0000486HP:0000486Strabismus0FKRP CL E G H7914717997ORPHA:370959Congenital muscular dystrophy with cerebellar involvementHP:0040283 - Occasional157
HP:0000486HP:0000486Strabismus0FKRP CL E G H7914717997ORPHA:370968Congenital muscular dystrophy with intellectual disabilityHP:0040283 - Occasional157
HP:0000486HP:0000486Strabismus0FKRP CL E G H7914717997ORPHA:588Muscle-eye-brain diseaseHP:0040281 - Very frequent157
HP:0000486HP:0000486Strabismus0FKTN CL E G H22183622ORPHA:588Muscle-eye-brain diseaseHP:0040281 - Very frequent184
HP:0000486HP:0000486Strabismus0FKTN CL E G H22183622OMIM:253800MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4.184
HP:0000486HP:0000486Strabismus0FLI1 CL E G H23133749ORPHA:2308Jacobsen syndromeHP:0040282 - Frequent8
HP:0000486HP:0000486Strabismus0FLII CL E G H23143750ORPHA:819Smith-Magenis syndromeHP:0040282 - Frequent
HP:0000486HP:0000486Strabismus0FLNA CL E G H23163754OMIM:300049Heterotopia, periventricular, X-linked dominant493
HP:0000486HP:0000486Strabismus0FLNA CL E G H23163754OMIM:309350Melnick-Needles syndrome.493
HP:0000486HP:0000486Strabismus0FMR1 CL E G H23323775ORPHA:908Fragile X syndromeHP:0040283 - Occasional30
HP:0000486HP:0000486Strabismus0FMR1 CL E G H23323775ORPHA:449291Symptomatic form of fragile X syndrome in female carriersHP:0040284 - Very rare30
HP:0000486HP:0000486Strabismus0FN1 CL E G H23353778ORPHA:93315Spondylometaphyseal dysplasia, 'corner fracture' typeHP:0040284 - Very rare9
HP:0000486HP:0000486Strabismus0FOXC1 CL E G H22963800ORPHA:708Peters anomalyHP:0040284 - Very rare63
HP:0000486HP:0000486Strabismus0FOXE3 CL E G H23013808ORPHA:708Peters anomalyHP:0040284 - Very rare23
HP:0000486HP:0000486Strabismus0FOXH1 CL E G H89283814ORPHA:280200Microform holoprosencephalyHP:0040283 - Occasional48
HP:0000486HP:0000486Strabismus0FOXL2 CL E G H6681092OMIM:110100Blepharophimosis, epicanthus inversus, and ptosis.92
HP:0000486HP:0000486Strabismus0FOXL2 CL E G H6681092ORPHA:572333Blepharophimosis-ptosis-epicanthus inversus syndrome plusHP:0040283 - Occasional92
HP:0000486HP:0000486Strabismus0FOXP1 CL E G H270863823ORPHA:391372Intellectual disability-severe speech delay-mild dysmorphism syndromeHP:0040282 - Frequent184
HP:0000486HP:0000486Strabismus0FOXP1 CL E G H270863823OMIM:613670Mental retardation with language impairment and with or without autistic features184
HP:0000486HP:0000486Strabismus0FOXRED1 CL E G H5557226927ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent61
HP:0000486HP:0000486Strabismus0FOXRED1 CL E G H5557226927ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent61
HP:0000486HP:0000486Strabismus0FRMD4A CL E G H5569125491OMIM:616819Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia1
HP:0000486HP:0000486Strabismus0FRMD4A CL E G H5569125491ORPHA:466688Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndromeHP:0040282 - Frequent1
HP:0000486HP:0000486Strabismus0FRMD5 CL E G H8497828214OMIM:620094
HP:0000486HP:0000486Strabismus0FRMPD4 CL E G H975829007OMIM:300983MENTAL RETARDATION, X-LINKED 104; MRX10432
HP:0000486HP:0000486Strabismus0FZD2 CL E G H25354040ORPHA:3107Autosomal dominant Robinow syndromeHP:0040283 - Occasional
HP:0000486HP:0000486Strabismus0FZD4 CL E G H83224042OMIM:133780Exudative vitreoretinopathy 1109
HP:0000486HP:0000486Strabismus0FZD4 CL E G H83224042ORPHA:91495Persistent hyperplastic primary vitreous109
HP:0000486HP:0000486Strabismus0GABRD CL E G H25634084ORPHA:16061p36 deletion syndromeHP:0040282 - Frequent10
HP:0000486HP:0000486Strabismus0GALC CL E G H25814115ORPHA:206443Late-infantile/juvenile Krabbe disease160
HP:0000486HP:0000486Strabismus0GALNT2 CL E G H25904124OMIM:618885CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt; CDG2T
HP:0000486HP:0000486Strabismus0GAN CL E G H81394137OMIM:256850Giant axonal neuropathy 1, autosomal recessive121
HP:0000486HP:0000486Strabismus0GAS1 CL E G H26194165ORPHA:280200Microform holoprosencephalyHP:0040283 - Occasional2
HP:0000486HP:0000486Strabismus0GATA1 CL E G H26234170ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare29
HP:0000486HP:0000486Strabismus0GATA4 CL E G H26264173ORPHA:2510718p23.1 microdeletion syndromeHP:0040283 - Occasional87
HP:0000486HP:0000486Strabismus0GATAD2B CL E G H5745930778OMIM:615074Mental retardation, autosomal dominant 1833
HP:0000486HP:0000486Strabismus0GATAD2B CL E G H5745930778ORPHA:363686Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndromeHP:0040282 - Frequent33
HP:0000486HP:0000486Strabismus0GBA1 CL E G H26294177ORPHA:77260Gaucher disease type 2HP:0040281 - Very frequent
HP:0000486HP:0000486Strabismus0GBA1 CL E G H26294177ORPHA:77261Gaucher disease type 3HP:0040281 - Very frequent
HP:0000486HP:0000486Strabismus0GBA1 CL E G H26294177OMIM:608013Gaucher disease, perinatal lethal.
HP:0000486HP:0000486Strabismus0GBA1 CL E G H26294177OMIM:230900Gaucher disease, type II.
HP:0000486HP:0000486Strabismus0GBA1 CL E G H26294177OMIM:231000Gaucher disease, type III.
HP:0000486HP:0000486Strabismus0GBA1 CL E G H26294177OMIM:231005Gaucher disease, type IIIC.
HP:0000486HP:0000486Strabismus0GBA1 CL E G H26294177ORPHA:2072Gaucher disease-ophthalmoplegia-cardiovascular calcification syndromeHP:0040283 - Occasional
HP:0000486HP:0000486Strabismus0GDF5 CL E G H82004220ORPHA:3250Proximal symphalangismHP:0040283 - Occasional52
HP:0000486HP:0000486Strabismus0GFPT1 CL E G H26734241OMIM:608931Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency.128
HP:0000486HP:0000486Strabismus0GGCX CL E G H26774247ORPHA:436274Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosaHP:0040281 - Very frequent129
HP:0000486HP:0000486Strabismus0GGT1 CL E G H26784250OMIM:231950GLUTATHIONURIAHP:0040284 - Very rare
HP:0000486HP:0000486Strabismus0GJA1 CL E G H26974274ORPHA:2710Oculodentodigital dysplasiaHP:0040283 - Occasional68
HP:0000486HP:0000486Strabismus0GJA5 CL E G H27024279OMIM:612474Chromosome 1q21.1 deletion syndrome, 1.35-mb39
HP:0000486HP:0000486Strabismus0GJA8 CL E G H27034281OMIM:612474Chromosome 1q21.1 deletion syndrome, 1.35-mb34
HP:0000486HP:0000486Strabismus0GJB6 CL E G H108044288OMIM:129500Clouston syndrome.56
HP:0000486HP:0000486Strabismus0GJC2 CL E G H5716517494ORPHA:320401Autosomal recessive spastic paraplegia type 44HP:0040281 - Very frequent37
HP:0000486HP:0000486Strabismus0GK CL E G H27104289OMIM:307030Glycerol kinase deficiency.13
HP:0000486HP:0000486Strabismus0GLI1 CL E G H27354317ORPHA:289Ellis Van Creveld syndromeHP:0040282 - Frequent1
HP:0000486HP:0000486Strabismus0GLI2 CL E G H27364318ORPHA:280200Microform holoprosencephalyHP:0040283 - Occasional173
HP:0000486HP:0000486Strabismus0GLRB CL E G H27434329OMIM:614619Hyperekplexia 246
HP:0000486HP:0000486Strabismus0GLRX5 CL E G H5121820134OMIM:616859Spasticity, childhood-onset, with hyperglycinemia17
HP:0000486HP:0000486Strabismus0GMNN CL E G H5105317493OMIM:616835Meier-Gorlin syndrome 6.3
HP:0000486HP:0000486Strabismus0GMPPA CL E G H2992622923OMIM:615510Alacrima, achalasia, and mental retardation syndromeHP:0040283 - Occasional24
HP:0000486HP:0000486Strabismus0GMPPB CL E G H2992522932ORPHA:370959Congenital muscular dystrophy with cerebellar involvementHP:0040283 - Occasional34
HP:0000486HP:0000486Strabismus0GMPPB CL E G H2992522932ORPHA:370968Congenital muscular dystrophy with intellectual disabilityHP:0040283 - Occasional34
HP:0000486HP:0000486Strabismus0GMPPB CL E G H2992522932ORPHA:588Muscle-eye-brain diseaseHP:0040281 - Very frequent34
HP:0000486HP:0000486Strabismus0GMPPB CL E G H2992522932OMIM:615351MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14HP:0040283 - Occasional34
HP:0000486HP:0000486Strabismus0GNA14 CL E G H96304382ORPHA:1063Tufted angioma
HP:0000486HP:0000486Strabismus0GNAO1 CL E G H27754389ORPHA:1934Early infantile epileptic encephalopathyHP:0040284 - Very rare36
HP:0000486HP:0000486Strabismus0GNAQ CL E G H27764390ORPHA:3205Sturge-Weber syndromeHP:0040282 - Frequent7
HP:0000486HP:0000486Strabismus0GNAS CL E G H27784392ORPHA:79443Pseudohypoparathyroidism type 1AHP:0040283 - Occasional101
HP:0000486HP:0000486Strabismus0GNAT1 CL E G H27794393ORPHA:215Congenital stationary night blindnessHP:0040282 - Frequent39
HP:0000486HP:0000486Strabismus0GNB1 CL E G H27824396ORPHA:488613Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndromeHP:0040283 - Occasional12
HP:0000486HP:0000486Strabismus0GNB1 CL E G H27824396OMIM:616973Mental retardation, autosomal dominant 42.12
HP:0000486HP:0000486Strabismus0GNB2 CL E G H27834398OMIM:619503NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0000486HP:0000486Strabismus0GNB3 CL E G H27844400ORPHA:215Congenital stationary night blindnessHP:0040282 - Frequent5
HP:0000486HP:0000486Strabismus0GP1BB CL E G H28124440ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional8
HP:0000486HP:0000486Strabismus0GPR143 CL E G H493520145ORPHA:54X-linked recessive ocular albinismHP:0040282 - Frequent64
HP:0000486HP:0000486Strabismus0GPR179 CL E G H44043531371ORPHA:215Congenital stationary night blindnessHP:0040282 - Frequent124
HP:0000486HP:0000486Strabismus0GPR179 CL E G H44043531371OMIM:614565Night blindness, congenital stationary, type 1EHP:0040283 - Occasional124
HP:0000486HP:0000486Strabismus0GRHL2 CL E G H799772799ORPHA:98973Posterior polymorphous corneal dystrophy33
HP:0000486HP:0000486Strabismus0GRIA1 CL E G H28904571OMIM:6199313
HP:0000486HP:0000486Strabismus0GRIA4 CL E G H28934574OMIM:617864Neurodevelopmental disorder with or without seizures and gait abnormalities.
HP:0000486HP:0000486Strabismus0GRID2 CL E G H28954576OMIM:616204SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18; SCAR1818
HP:0000486HP:0000486Strabismus0GRIK2 CL E G H28984580OMIM:619580NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND ATAXIA AND WITH OR WITHOUT SEIZURES; NEDLAS32
HP:0000486HP:0000486Strabismus0GRIN1 CL E G H29024584ORPHA:1934Early infantile epileptic encephalopathyHP:0040284 - Very rare108
HP:0000486HP:0000486Strabismus0GRIN1 CL E G H29024584OMIM:617820Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive.108
HP:0000486HP:0000486Strabismus0GRK1 CL E G H601110013ORPHA:215Congenital stationary night blindnessHP:0040282 - Frequent4
HP:0000486HP:0000486Strabismus0GRK1 CL E G H601110013ORPHA:75382Oguchi diseaseHP:0040284 - Very rare4
HP:0000486HP:0000486Strabismus0GRM1 CL E G H29114593ORPHA:324262Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency8
HP:0000486HP:0000486Strabismus0GRM1 CL E G H29114593OMIM:614831SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13; SCAR138
HP:0000486HP:0000486Strabismus0GRM6 CL E G H29164598ORPHA:215Congenital stationary night blindnessHP:0040282 - Frequent63
HP:0000486HP:0000486Strabismus0GRM7 CL E G H29174599ORPHA:1934Early infantile epileptic encephalopathyHP:0040284 - Very rare5
HP:0000486HP:0000486Strabismus0GTF2E2 CL E G H29614651ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional2
HP:0000486HP:0000486Strabismus0GTF2E2 CL E G H29614651OMIM:616943Trichothiodystrophy 6, nonphotosensitive2
HP:0000486HP:0000486Strabismus0GTF2H5 CL E G H40467221157ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional3
HP:0000486HP:0000486Strabismus0GTF2I CL E G H29694659ORPHA:904Williams syndromeHP:0040282 - Frequent1
HP:0000486HP:0000486Strabismus0GTF2IRD1 CL E G H95694661ORPHA:904Williams syndromeHP:0040282 - Frequent1
HP:0000486HP:0000486Strabismus0GTF2IRD2 CL E G H8416330775ORPHA:904Williams syndromeHP:0040282 - Frequent1
HP:0000486HP:0000486Strabismus0H1-4 CL E G H30084718OMIM:617537Rahman syndrome.
HP:0000486HP:0000486Strabismus0H3-3A CL E G H30204764OMIM:619720BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1; BRYLIB1
HP:0000486HP:0000486Strabismus0H4C11 CL E G H83634785OMIM:619759TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 2; TEVANED2
HP:0000486HP:0000486Strabismus0H4C3 CL E G H83644787OMIM:619758TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 1; TEVANED1
HP:0000486HP:0000486Strabismus0H4C5 CL E G H83674790OMIM:619950
HP:0000486HP:0000486Strabismus0H4C9 CL E G H82944793OMIM:619951
HP:0000486HP:0000486Strabismus0HACE1 CL E G H5753121033OMIM:616756Spastic paraplegia and psychomotor retardation with or without seizures10
HP:0000486HP:0000486Strabismus0HACE1 CL E G H5753121033ORPHA:464282Spastic paraplegia-severe developmental delay-epilepsy syndrome10
HP:0000486HP:0000486Strabismus0HADHA CL E G H30304801ORPHA:5Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency99
HP:0000486HP:0000486Strabismus0HDAC8 CL E G H5586913315ORPHA:199Cornelia de Lange syndromeHP:0040283 - Occasional37
HP:0000486HP:0000486Strabismus0HECW2 CL E G H5752029853OMIM:617268Neurodevelopmental disorder with hypotonia, seizures, and absent language11
HP:0000486HP:0000486Strabismus0HERC2 CL E G H89244868OMIM:615516Mental retardation, autosomal recessive 38.38
HP:0000486HP:0000486Strabismus0HERC2 CL E G H89244868OMIM:176270Prader-Willi syndrome38
HP:0000486HP:0000486Strabismus0HESX1 CL E G H88204877ORPHA:3157Septo-optic dysplasia spectrumHP:0040282 - Frequent21
HP:0000486HP:0000486Strabismus0HHAT CL E G H5573318270ORPHA:1422Chondrodysplasia-disorder of sex development syndromeHP:0040282 - Frequent
HP:0000486HP:0000486Strabismus0HIBCH CL E G H262754908OMIM:2506203-Hydroxyisobutyryl-Coa hydrolase deficiency.32
HP:0000486HP:0000486Strabismus0HIBCH CL E G H262754908ORPHA:88639Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiencyHP:0040282 - Frequent32
HP:0000486HP:0000486Strabismus0HID1 CL E G H28398715736OMIM:619983
HP:0000486HP:0000486Strabismus0HIRA CL E G H72904916ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional3
HP:0000486HP:0000486Strabismus0HK1 CL E G H30984922OMIM:618547NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES; NEDVIBA11
HP:0000486HP:0000486Strabismus0HMGB3 CL E G H31495004OMIM:300915Microphthalmia, syndromic 132
HP:0000486HP:0000486Strabismus0HMX1 CL E G H31665017OMIM:612109Oculoauricular syndrome2
HP:0000486HP:0000486Strabismus0HNRNPH1 CL E G H31875041OMIM:620083
HP:0000486HP:0000486Strabismus0HNRNPH2 CL E G H31885042OMIM:300986MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE; MRXSB3
HP:0000486HP:0000486Strabismus0HNRNPR CL E G H102365047OMIM:620073
HP:0000486HP:0000486Strabismus0HNRNPU CL E G H31925048ORPHA:2387691q44 microdeletion syndromeHP:0040282 - Frequent39
HP:0000486HP:0000486Strabismus0HOXA1 CL E G H31985099OMIM:601536ATHABASKAN BRAINSTEM DYSGENESIS SYNDROME; ABDS34
HP:0000486HP:0000486Strabismus0HOXA13 CL E G H32095102ORPHA:2438Hand-foot-genital syndromeHP:0040283 - Occasional11
HP:0000486HP:0000486Strabismus0HOXB1 CL E G H32115111OMIM:614744Facial paresis, hereditary congenital, 32
HP:0000486HP:0000486Strabismus0HPDL CL E G H8484228242OMIM:619026NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE SPASTICITY AND BRAIN WHITE MATTER ABNORMALITIES; NEDSWMA
HP:0000486HP:0000486Strabismus0HPS3 CL E G H8434315597OMIM:614072Hermansky-Pudlak syndrome 367
HP:0000486HP:0000486Strabismus0HPS5 CL E G H1123417022OMIM:614074Hermansky-Pudlak syndrome 5.105
HP:0000486HP:0000486Strabismus0HPS6 CL E G H7980318817OMIM:614075Hermansky-Pudlak syndrome 6.45
HP:0000486HP:0000486Strabismus0HRAS CL E G H32655173ORPHA:3071Costello syndromeHP:0040282 - Frequent113
HP:0000486HP:0000486Strabismus0HRAS CL E G H32655173OMIM:218040Costello syndrome.113
HP:0000486HP:0000486Strabismus0HSD17B4 CL E G H32955213OMIM:261515D-bifunctional protein deficiency98
HP:0000486HP:0000486Strabismus0HSPD1 CL E G H33295261OMIM:612233Leukodystrophy, hypomyelinating, 4.46
HP:0000486HP:0000486Strabismus0HSPG2 CL E G H33395273ORPHA:16061p36 deletion syndromeHP:0040282 - Frequent345
HP:0000486HP:0000486Strabismus0HSPG2 CL E G H33395273ORPHA:800Schwartz-Jampel syndromeHP:0040282 - Frequent345
HP:0000486HP:0000486Strabismus0HUWE1 CL E G H1007530892OMIM:309590Mental retardation, x-linked syndromic, Turner type98
HP:0000486HP:0000486Strabismus0HYLS1 CL E G H21984426558ORPHA:475Joubert syndromeHP:0040283 - Occasional31
HP:0000486HP:0000486Strabismus0IARS2 CL E G H5569929685OMIM:616007Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia.25
HP:0000486HP:0000486Strabismus0IDH3A CL E G H34195384OMIM:619007RETINITIS PIGMENTOSA 90; RP90
HP:0000486HP:0000486Strabismus0IGF1R CL E G H34805465OMIM:270450Insulin-Like growth factor I, resistance to.268
HP:0000486HP:0000486Strabismus0IKBKG CL E G H85175961ORPHA:464Incontinentia pigmentiHP:0040282 - Frequent52
HP:0000486HP:0000486Strabismus0IKBKG CL E G H85175961OMIM:308300Incontinentia pigmenti.52
HP:0000486HP:0000486Strabismus0IL1RAPL1 CL E G H111415996OMIM:300143Mental retardation, X-linked 2142
HP:0000486HP:0000486Strabismus0INPP5E CL E G H5662321474ORPHA:475Joubert syndromeHP:0040283 - Occasional111
HP:0000486HP:0000486Strabismus0INPP5E CL E G H5662321474OMIM:213300Joubert syndrome 1111
HP:0000486HP:0000486Strabismus0INPP5E CL E G H5662321474ORPHA:1454Joubert syndrome with hepatic defectHP:0040283 - Occasional111
HP:0000486HP:0000486Strabismus0INPP5E CL E G H5662321474ORPHA:220493Joubert syndrome with ocular defectHP:0040283 - Occasional111
HP:0000486HP:0000486Strabismus0INPP5K CL E G H5176333882ORPHA:559Marinesco-Sjögren syndromeHP:0040281 - Very frequent7
HP:0000486HP:0000486Strabismus0INPP5K CL E G H5176333882OMIM:617404Muscular dystrophy, congenital, with cataracts and intellectual disability.7
HP:0000486HP:0000486Strabismus0INTS1 CL E G H2617324555OMIM:618571NEURODEVELOPMENTAL DISORDER WITH CATARACTS, POOR GROWTH, AND DYSMORPHIC FACIES; NDCAGF
HP:0000486HP:0000486Strabismus0IPW CL E G H36536109OMIM:176270Prader-Willi syndrome
HP:0000486HP:0000486Strabismus0IQSEC2 CL E G H2309629059OMIM:309530Mental retardation, X-linked 1.119
HP:0000486HP:0000486Strabismus0IQSEC2 CL E G H2309629059ORPHA:397933Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndromeHP:0040283 - Occasional119
HP:0000486HP:0000486Strabismus0IQSEC2 CL E G H2309629059ORPHA:819Smith-Magenis syndromeHP:0040282 - Frequent119
HP:0000486HP:0000486Strabismus0IRF2BPL CL E G H6420714282OMIM:618088Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures
HP:0000486HP:0000486Strabismus0JAG1 CL E G H1826188OMIM:118450Alagille syndrome 1.257
HP:0000486HP:0000486Strabismus0JMJD1C CL E G H22103712313ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional2
HP:0000486HP:0000486Strabismus0KANSL1 CL E G H28405824565ORPHA:36395817q21.31 microdeletion syndromeHP:0040282 - Frequent283
HP:0000486HP:0000486Strabismus0KANSL1 CL E G H28405824565OMIM:610443Koolen-De Vries syndrome283
HP:0000486HP:0000486Strabismus0KANSL1 CL E G H28405824565ORPHA:363965Koolen-De Vries syndrome due to a point mutationHP:0040282 - Frequent283
HP:0000486HP:0000486Strabismus0KAT5 CL E G H105245275OMIM:619103NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES; NEDFASB1
HP:0000486HP:0000486Strabismus0KAT6A CL E G H799413013OMIM:616268Arboleda-Tham syndrome34
HP:0000486HP:0000486Strabismus0KAT6A CL E G H799413013ORPHA:457193Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndromeHP:0040282 - Frequent34
HP:0000486HP:0000486Strabismus0KAT8 CL E G H8414817933OMIM:618974LI-GHORBANI-WEISZ-HUBSHMAN SYNDROME; LIGOWS
HP:0000486HP:0000486Strabismus0KATNIP CL E G H2324729068ORPHA:475Joubert syndromeHP:0040283 - Occasional
HP:0000486HP:0000486Strabismus0KCNA1 CL E G H37366218ORPHA:1934Early infantile epileptic encephalopathyHP:0040284 - Very rare145
HP:0000486HP:0000486Strabismus0KCNAB2 CL E G H85146229ORPHA:16061p36 deletion syndromeHP:0040282 - Frequent1
HP:0000486HP:0000486Strabismus0KCNE5 CL E G H236306241ORPHA:86818Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndromeHP:0040283 - Occasional5
HP:0000486HP:0000486Strabismus0KCNJ13 CL E G H37696259OMIM:614186Leber congenital amaurosis 16HP:0040283 - Occasional42
HP:0000486HP:0000486Strabismus0KCNMA1 CL E G H37786284ORPHA:79137Generalized epilepsy-paroxysmal dyskinesia syndrome114
HP:0000486HP:0000486Strabismus0KCNMA1 CL E G H37786284OMIM:618729LIANG-WANG SYNDROME; LIWAS114
HP:0000486HP:0000486Strabismus0KCNN2 CL E G H37816291OMIM:619724DYSTONIA 34, MYOCLONIC; DYT34
HP:0000486HP:0000486Strabismus0KCNV2 CL E G H16952219698OMIM:610356Retinal cone dystrophy 3BHP:0040283 - Occasional73
HP:0000486HP:0000486Strabismus0KDM1A CL E G H2302829079OMIM:616728Cleft palate, psychomotor retardation, and distinctive facial features3
HP:0000486HP:0000486Strabismus0KDM1A CL E G H2302829079ORPHA:477993Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndromeHP:0040282 - Frequent3
HP:0000486HP:0000486Strabismus0KDM5B CL E G H1076518039OMIM:618109Mental retardation, autosomal recessive 65.2
HP:0000486HP:0000486Strabismus0KDM5C CL E G H824211114OMIM:300534Mental retardation, X-linked, syndromic, Claes-Jensen type81
HP:0000486HP:0000486Strabismus0KDM5C CL E G H824211114ORPHA:85279Syndromic X-linked intellectual disability due to JARID1C mutationHP:0040283 - Occasional81
HP:0000486HP:0000486Strabismus0KDM6A CL E G H740312637ORPHA:2322Kabuki syndromeHP:0040282 - Frequent53
HP:0000486HP:0000486Strabismus0KDM6A CL E G H740312637OMIM:147920Kabuki syndrome 1.53
HP:0000486HP:0000486Strabismus0KDM6A CL E G H740312637OMIM:300867Kabuki syndrome 253
HP:0000486HP:0000486Strabismus0KDM6B CL E G H2313529012OMIM:618505Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities.9
HP:0000486HP:0000486Strabismus0KIAA0586 CL E G H978619960ORPHA:475Joubert syndromeHP:0040283 - Occasional24
HP:0000486HP:0000486Strabismus0KIAA0586 CL E G H978619960ORPHA:397715Joubert syndrome with Jeune asphyxiating thoracic dystrophy24
HP:0000486HP:0000486Strabismus0KIAA0753 CL E G H985129110OMIM:619476JOUBERT SYNDROME 38; JBTS384
HP:0000486HP:0000486Strabismus0KIAA0753 CL E G H985129110ORPHA:2754Orofaciodigital syndrome type 64
HP:0000486HP:0000486Strabismus0KIDINS220 CL E G H5749829508OMIM:617296SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY; SINO4
HP:0000486HP:0000486Strabismus0KIDINS220 CL E G H5749829508ORPHA:521390Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome4
HP:0000486HP:0000486Strabismus0KIF14 CL E G H992819181OMIM:617914Microcephaly 20, primary, autosomal recessive.9
HP:0000486HP:0000486Strabismus0KIF15 CL E G H5699217273ORPHA:26132321q22.11q22.12 microdeletion syndromeHP:0040283 - Occasional
HP:0000486HP:0000486Strabismus0KIF21A CL E G H5560519349OMIM:135700Fibrosis of extraocular muscles, congenital, 193
HP:0000486HP:0000486Strabismus0KIF22 CL E G H38356391ORPHA:93360Spondyloepimetaphyseal dysplasia with multiple dislocationsHP:0040283 - Occasional14
HP:0000486HP:0000486Strabismus0KIF7 CL E G H37465430497OMIM:200990Acrocallosal syndrome167
HP:0000486HP:0000486Strabismus0KIF7 CL E G H37465430497ORPHA:2754Orofaciodigital syndrome type 6167
HP:0000486HP:0000486Strabismus0KLF13 CL E G H5162113672OMIM:612001Chromosome 15q13.3 microdeletion syndrome
HP:0000486HP:0000486Strabismus0KMT2A CL E G H42977132OMIM:605130Wiedemann-Steiner syndrome.91
HP:0000486HP:0000486Strabismus0KMT2B CL E G H975715840OMIM:61993411
HP:0000486HP:0000486Strabismus0KMT2B CL E G H975715840ORPHA:589618Dystonia 2811
HP:0000486HP:0000486Strabismus0KMT2B CL E G H975715840OMIM:617284Dystonia 28, childhood-onset11
HP:0000486HP:0000486Strabismus0KMT2D CL E G H80857133ORPHA:2322Kabuki syndromeHP:0040282 - Frequent660
HP:0000486HP:0000486Strabismus0KMT2D CL E G H80857133OMIM:147920Kabuki syndrome 1.660
HP:0000486HP:0000486Strabismus0KRAS CL E G H38456407ORPHA:1340Cardiofaciocutaneous syndromeHP:0040282 - Frequent196
HP:0000486HP:0000486Strabismus0KRAS CL E G H38456407ORPHA:648Noonan syndromeHP:0040282 - Frequent196
HP:0000486HP:0000486Strabismus0KRAS CL E G H38456407OMIM:609942Noonan syndrome 3196
HP:0000486HP:0000486Strabismus0KRAS CL E G H38456407OMIM:600268Oculoectodermal syndrome.196
HP:0000486HP:0000486Strabismus0KRAS CL E G H38456407ORPHA:3339Toriello-Lacassie-Droste syndromeHP:0040282 - Frequent196
HP:0000486HP:0000486Strabismus0KRT10 CL E G H38586413OMIM:609165Erythroderma, ichthyosiform, congenital reticular45
HP:0000486HP:0000486Strabismus0KRT25 CL E G H14718330839ORPHA:170Woolly hairHP:0040283 - Occasional2
HP:0000486HP:0000486Strabismus0KRT71 CL E G H11280228927ORPHA:170Woolly hairHP:0040283 - Occasional1
HP:0000486HP:0000486Strabismus0KRT74 CL E G H12139128929ORPHA:170Woolly hairHP:0040283 - Occasional5
HP:0000486HP:0000486Strabismus0L1CAM CL E G H38976470ORPHA:2182Hydrocephalus with stenosis of the aqueduct of SylviusHP:0040283 - Occasional134
HP:0000486HP:0000486Strabismus0L1CAM CL E G H38976470OMIM:303350MASA syndrome.134
HP:0000486HP:0000486Strabismus0L2HGDH CL E G H7994420499OMIM:236792L-2-Hydroxyglutaric aciduria.34
HP:0000486HP:0000486Strabismus0LAGE3 CL E G H827026058OMIM:301006Galloway-Mowat syndrome 2, X-linked
HP:0000486HP:0000486Strabismus0LAMA1 CL E G H2842176481ORPHA:370022Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndromeHP:0040282 - Frequent35
HP:0000486HP:0000486Strabismus0LAMA1 CL E G H2842176481OMIM:615960Poretti-Boltshauser syndrome.35
HP:0000486HP:0000486Strabismus0LAMB2 CL E G H39136487OMIM:614199Nephrotic syndrome, type 5, with or without ocular abnormalities92
HP:0000486HP:0000486Strabismus0LARGE1 CL E G H92156511ORPHA:370968Congenital muscular dystrophy with intellectual disabilityHP:0040283 - Occasional136
HP:0000486HP:0000486Strabismus0LARGE1 CL E G H92156511ORPHA:588Muscle-eye-brain diseaseHP:0040281 - Very frequent136
HP:0000486HP:0000486Strabismus0LARP7 CL E G H5157424912ORPHA:319671Alazami syndromeHP:0040283 - Occasional16
HP:0000486HP:0000486Strabismus0LARS2 CL E G H2339517095OMIM:615300Perrault syndrome 454
HP:0000486HP:0000486Strabismus0LBR CL E G H39306518OMIM:169400Pelger-Huet anomaly70
HP:0000486HP:0000486Strabismus0LCA5 CL E G H16769131923ORPHA:364055Severe early-childhood-onset retinal dystrophy70
HP:0000486HP:0000486Strabismus0LEMD3 CL E G H2359228887ORPHA:1306Buschke-Ollendorff syndromeHP:0040283 - Occasional68
HP:0000486HP:0000486Strabismus0LETM1 CL E G H39546556OMIM:194190Wolf-Hirschhorn syndrome2
HP:0000486HP:0000486Strabismus0LETM1 CL E G H39546556ORPHA:280Wolf-Hirschhorn syndromeHP:0040283 - Occasional2
HP:0000486HP:0000486Strabismus0LGI4 CL E G H16317518712OMIM:617468Arthrogryposis multiplex congenita, neurogenic, with myelin defect.6
HP:0000486HP:0000486Strabismus0LIG4 CL E G H39816601ORPHA:235Dubowitz syndromeHP:0040283 - Occasional88
HP:0000486HP:0000486Strabismus0LIMK1 CL E G H39846613ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0000486HP:0000486Strabismus0LIPH CL E G H20087918483ORPHA:170Woolly hairHP:0040283 - Occasional12
HP:0000486HP:0000486Strabismus0LIPT1 CL E G H5160129569ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent21
HP:0000486HP:0000486Strabismus0LMBRD2 CL E G H9225525287OMIM:619694DEVELOPMENTAL DELAY WITH VARIABLE NEUROLOGIC AND BRAIN ABNORMALITIES; DENBA
HP:0000486HP:0000486Strabismus0LMNB1 CL E G H40016637ORPHA:2514Autosomal dominant primary microcephaly44
HP:0000486HP:0000486Strabismus0LMX1B CL E G H40106654ORPHA:4958189q33.3q34.11 microdeletion syndromeHP:0040282 - Frequent165
HP:0000486HP:0000486Strabismus0LONP1 CL E G H93619479ORPHA:1458CODAS syndromeHP:0040283 - Occasional8
HP:0000486HP:0000486Strabismus0LPAR6 CL E G H1016115520ORPHA:170Woolly hairHP:0040283 - Occasional8
HP:0000486HP:0000486Strabismus0LRAT CL E G H92276685ORPHA:364055Severe early-childhood-onset retinal dystrophy62
HP:0000486HP:0000486Strabismus0LRIT3 CL E G H34519324783ORPHA:215Congenital stationary night blindnessHP:0040282 - Frequent54
HP:0000486HP:0000486Strabismus0LRIT3 CL E G H34519324783OMIM:615058Night blindness, congenital stationary, type 1FHP:0040283 - Occasional54
HP:0000486HP:0000486Strabismus0LRP5 CL E G H40416697OMIM:133780Exudative vitreoretinopathy 1125
HP:0000486HP:0000486Strabismus0LRPPRC CL E G H1012815714OMIM:220111Leigh syndrome, french Canadian type.191
HP:0000486HP:0000486Strabismus0LRRC32 CL E G H26154161OMIM:619074CLEFT PALATE, PROLIFERATIVE RETINOPATHY, AND DEVELOPMENTAL DELAY; CPPRDD
HP:0000486HP:0000486Strabismus0LUZP1 CL E G H779814985ORPHA:16061p36 deletion syndromeHP:0040282 - Frequent
HP:0000486HP:0000486Strabismus0LYRM7 CL E G H9062428072OMIM:615838Mitochondrial complex III deficiency, nuclear type 810
HP:0000486HP:0000486Strabismus0LYST CL E G H11301968ORPHA:167Chédiak-Higashi syndromeHP:0040283 - Occasional239
HP:0000486HP:0000486Strabismus0LYST CL E G H11301968OMIM:214500Chediak-Higashi syndrome239
HP:0000486HP:0000486Strabismus0LZTR1 CL E G H82166742ORPHA:648Noonan syndromeHP:0040282 - Frequent43
HP:0000486HP:0000486Strabismus0MAB21L1 CL E G H40816757OMIM:618479Cerebellar, ocular, craniofacial, and genital syndrome.
HP:0000486HP:0000486Strabismus0MAB21L2 CL E G H105866758OMIM:615877Microphthalmia/coloboma and skeletal dysplasia syndrome.5
HP:0000486HP:0000486Strabismus0MACF1 CL E G H2349913664OMIM:618325Lissencephaly 9 with complex brainstem malformation.2
HP:0000486HP:0000486Strabismus0MACF1 CL E G H2349913664ORPHA:572013Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome2
HP:0000486HP:0000486Strabismus0MAD2L2 CL E G H104596764ORPHA:84Fanconi anemiaHP:0040283 - Occasional1
HP:0000486HP:0000486Strabismus0MADD CL E G H85676766OMIM:619004DEEAH SYNDROME; DEEAH5
HP:0000486HP:0000486Strabismus0MADD CL E G H85676766OMIM:619005NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA; NEDDISH5
HP:0000486HP:0000486Strabismus0MAFB CL E G H99356408ORPHA:233Duane retraction syndromeHP:0040281 - Very frequent63
HP:0000486HP:0000486Strabismus0MAFB CL E G H99356408OMIM:617041Duane retraction syndrome 3 with or without deafness63
HP:0000486HP:0000486Strabismus0MAGEL2 CL E G H545516814ORPHA:398069MAGEL2-related Prader-Willi-like syndromeHP:0040282 - Frequent63
HP:0000486HP:0000486Strabismus0MAGEL2 CL E G H545516814OMIM:176270Prader-Willi syndrome63
HP:0000486HP:0000486Strabismus0