Human Phenotype Ontology 
Grandparent Node:
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Abnormal eye physiology (HP:0012373)help
Parent Node:
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Abnormality of vision (HP:0000504)help
..Starting node
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Visual impairment (HP:0000505)help
Term ID: 505
Name: Visual impairment
Synonym: Impaired vision; Loss of eyesight; Poor vision; Visual impairment
Definition: Visual impairment (or vision impairment) is vision loss (of a person) to such a degree as to qualify as an additional support need through a significant limitation of visual capability resulting from either disease, trauma, or congenital or degenerative conditions that cannot be corrected by conventional means, such as refractive correction, medication, or surgery.
Comments:
Reference: HP:0000505
Genes and Diseases:
 
       Child Nodes:
........expandBlindness (HP:0000618) help
................... HP:0007875 Congenital blindness
........expandSevere visual impairment (HP:0001141) help
........expandCongenital visual impairment (HP:0007758) help
........expandModerate visual impairment (HP:0030515) help
........expandCortical visual impairment (HP:0100704) help

 Sister Nodes: 
..expandAbnormality of binocular vision (HP:0011514) help
..expandAmaurosis fugax (HP:0100576) help
..expandBlurred vision (HP:0000622) help
..expandBradyopsia (HP:0030511) help
..expandColor vision defect (HP:0000551) help
..expandDifficulty adjusting to changes in luminance (HP:0030512) help
..expandHemeralopia (HP:0012047) help
..expandMetamorphopsia (HP:0012508) help
..expandNyctalopia (HP:0000662) help
..expandPhotophobia (HP:0000613) help
..expandPhotopsia (HP:0030786) help
..expandPoor visual behavior for age (HP:0025152) help
..expandReduced visual acuity (HP:0007663) help
..expandVisual field defect (HP:0001123) help
..expandVisual loss (HP:0000572) help
..expandVitreous floaters (HP:0100832) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0000505HP:0000505Visual impairment0AAAS CL E G H8086869ORPHA1799913666605378
HP:0000505HP:0000505Visual impairment0ABCA1 CL E G H19205400Tangier disease205400C0039292OMIM124035229600046
HP:0000505HP:0000505Visual impairment0ABCC6 CL E G H368177850Pseudoxanthoma elasticum, forme fruste177850C1867450OMIM138082157603234
HP:0000505HP:0000505Visual impairment0ADAM9 CL E G H8754612775Cone-rod dystrophy 9612775C1423873OMIM111164216602713
HP:0000505HP:0000505Visual impairment0ADNP CL E G H23394615873Helsmoortel-van der aa syndrome615873C4014538OMIM16817915766611386
HP:0000505HP:0000505Visual impairment0AHI1 CL E G H54806608629Joubert syndrome 3608629C1837713OMIM19642221575608894
HP:0000505HP:0000505Visual impairment0AIMP1 CL E G H9255260600Leukodystrophy, hypomyelinating 3260600C1850053OMIM153410648603605
HP:0000505HP:0000505Visual impairment0AIRE CL E G H3263453Meier Rotschild syndromeORPHA1141417360607358
HP:0000505HP:0000505Visual impairment0ALG2 CL E G H85365607906Congenital disorder of glycosylation type 1I607906C1842836OMIM1515323159607905
HP:0000505HP:0000505Visual impairment0AMACR CL E G H23600614307Alpha-methylacyl-CoA racemase deficiency614307C3280428OMIM114147451604489
HP:0000505HP:0000505Visual impairment0ANTXR1 CL E G H841682067ORPHA1142421014606410
HP:0000505HP:0000505Visual impairment0AP3B1 CL E G H8546608233Hermansky Pudlak syndrome 2608233C1842362OMIM135238566603401
HP:0000505HP:0000505Visual impairment0AP3D1 CL E G H8943284804ORPHA1490568607246
HP:0000505HP:0000505Visual impairment0ARID1A CL E G H8289614607Mental retardation, autosomal dominant 14614607C3553247OMIM13617511110603024
HP:0000505HP:0000505Visual impairment0ARID1B CL E G H57492135900Coffin-Siris syndrome 1135900C3281201OMIM118857518040614556
HP:0000505HP:0000505Visual impairment0ARNT2 CL E G H99153157Lachiewicz Sibley syndromeORPHA164916876606036
HP:0000505HP:0000505Visual impairment0ARX CL E G H170302300004Proud Levine Carpenter syndrome300004C0796124OMIM19846618060300382
HP:0000505HP:0000505Visual impairment0B3GALNT2 CL E G H148789588ORPHA11622128596610194
HP:0000505HP:0000505Visual impairment0BAZ1B CL E G H9031904Blepharophimosis nasal groove growth retardationORPHA15187961605681
HP:0000505HP:0000505Visual impairment0BDNF CL E G H627893ORPHA135431033113505
HP:0000505HP:0000505Visual impairment0BEST1 CL E G H7439153700Vitelliform macular dystrophy type 2153700C0339510OMIM131935412703607854
HP:0000505HP:0000505Visual impairment0BLOC1S3 CL E G H388552614077Hermansky-Pudlak syndrome 8614077C3888026OMIM142920914609762
HP:0000505HP:0000505Visual impairment0C12orf65 CL E G H91574613559Combined oxidative phosphorylation deficiency 7613559C3150801OMIM11111426784613541
HP:0000505HP:0000505Visual impairment0CA2 CL E G H760259730Osteopetrosis with renal tubular acidosis259730C0345407OMIM131761373611492
HP:0000505HP:0000505Visual impairment0CABP4 CL E G H57010610427Congenital stationary night blindness, type 2B610427C1864877OMIM1131941386608965
HP:0000505HP:0000505Visual impairment0CACNA1F CL E G H778300071Congenital stationary night blindness, type 2A300071C1848172OMIM11854081393300110
HP:0000505HP:0000505Visual impairment0CACNA2D4 CL E G H93589610478Retinal cone dystrophy 4610478C1864849OMIM1939120202608171
HP:0000505HP:0000505Visual impairment0CAMK2B CL E G H816617799MENTAL RETARDATION, AUTOSOMAL DOMINANT 54617799C4540484OMIM111491461607707
HP:0000505HP:0000505Visual impairment0CARS2 CL E G H79587616672Combined oxidative phosphorylation deficiency 27616672C4225251OMIM1436025695612800
HP:0000505HP:0000505Visual impairment0CASK CL E G H8573163937ORPHA11194461497300172
HP:0000505HP:0000505Visual impairment0CC2D2A CL E G H575451454Common atrioventricular canalC0221215ORPHA19658429253612013
HP:0000505HP:0000505Visual impairment0CEP290 CL E G H80184611755Leber congenital amaurosis 10611755C1857821OMIM131088429021610142
HP:0000505HP:0000505Visual impairment0CEP290 CL E G H80184610189Senior-Loken syndrome 6610189C1857779OMIM131088429021610142
HP:0000505HP:0000505Visual impairment0CKAP2L CL E G H150468272440Filippi syndrome272440C0795940OMIM174226877616174
HP:0000505HP:0000505Visual impairment0CLCN7 CL E G H1186667ORPHA11002682025602727
HP:0000505HP:0000505Visual impairment0CLCN7 CL E G H1186611490Osteopetrosis autosomal recessive 4611490C1969106OMIM11002682025602727
HP:0000505HP:0000505Visual impairment0CLIP2 CL E G H7461904Blepharophimosis nasal groove growth retardationORPHA111742586603432
HP:0000505HP:0000505Visual impairment0CLRN1 CL E G H7401614180Retinitis pigmentosa 61614180C3280041OMIM13917512605606397
HP:0000505HP:0000505Visual impairment0CNGB3 CL E G H547141871Dionisi Vici Sabetta Gambarara syndromeORPHA11264102153605080
HP:0000505HP:0000505Visual impairment0CNNM4 CL E G H265041873Diphallus rachischisis imperforate anusORPHA124200105607805
HP:0000505HP:0000505Visual impairment0CNTNAP1 CL E G H8506618186Congenital hypomyelinating neuropathy 3618186OMIM121758011602346
HP:0000505HP:0000505Visual impairment0COL17A1 CL E G H1308122400Epithelial recurrent erosion dystrophy122400C1852551OMIM11142592194113811
HP:0000505HP:0000505Visual impairment0COQ7 CL E G H10229616733Coenzyme Q10 deficiency, primary, 8616733C4225226OMIM15492244601683
HP:0000505HP:0000505Visual impairment0CRB1 CL E G H23418613835Leber congenital amaurosis 8613835C3151202OMIM13475442343604210
HP:0000505HP:0000505Visual impairment0CRX CL E G H1406613829Leber congenital amaurosis 7613829C3151192OMIM11072982383602225
HP:0000505HP:0000505Visual impairment0EARS2 CL E G H124454614924Combined oxidative phosphorylation deficiency 12614924C3554079OMIM13017929419612799
HP:0000505HP:0000505Visual impairment0EFEMP1 CL E G H2202126600Doyne honeycomb retinal dystrophy126600C1832174OMIM191103218601548
HP:0000505HP:0000505Visual impairment0ELN CL E G H2006904Blepharophimosis nasal groove growth retardationORPHA11275233327130160
HP:0000505HP:0000505Visual impairment0ERCC1 CL E G H20671466ORPHA18533433126380
HP:0000505HP:0000505Visual impairment0ERCC2 CL E G H20681466ORPHA11082273434126340
HP:0000505HP:0000505Visual impairment0ERCC4 CL E G H2072610965XFE progeroid syndrome610965C1970416OMIM1723483436133520
HP:0000505HP:0000505Visual impairment0ERCC5 CL E G H20731466ORPHA1592633437133530
HP:0000505HP:0000505Visual impairment0ERCC6 CL E G H20741466ORPHA11404993438609413
HP:0000505HP:0000505Visual impairment0EXOSC8 CL E G H11340616081Pontocerebellar hypoplasia, type 1c616081C4015160OMIM136017035606019
HP:0000505HP:0000505Visual impairment0FAS CL E G H3553437ORPHA114216911920134637
HP:0000505HP:0000505Visual impairment0FDXR CL E G H2232617717AUDITORY NEUROPATHY AND OPTIC ATROPHY617717C4521678OMIM119453642103270
HP:0000505HP:0000505Visual impairment0FGFR1 CL E G H22603157Lachiewicz Sibley syndromeORPHA12653883688136350
HP:0000505HP:0000505Visual impairment0FGFR2 CL E G H2263123500Crouzon syndrome123500C0010273OMIM11593363689176943
HP:0000505HP:0000505Visual impairment0FH CL E G H2271606812Fumarase deficiency606812C0342770OMIM12168903700136850
HP:0000505HP:0000505Visual impairment0FKRP CL E G H79147588ORPHA114140217997606596
HP:0000505HP:0000505Visual impairment0FKTN CL E G H2218588ORPHA1594503622607440
HP:0000505HP:0000505Visual impairment0FOXE3 CL E G H230188632ORPHA131863808601094
HP:0000505HP:0000505Visual impairment0FSCN2 CL E G H25794607921Retinitis pigmentosa 30607921C1842816OMIM1151673960607643
HP:0000505HP:0000505Visual impairment0GDF3 CL E G H9573613703Microphthalmia, isolated, with coloboma 6613703C3150968OMIM16664218606522
HP:0000505HP:0000505Visual impairment0GDF6 CL E G H392255613703Microphthalmia, isolated, with coloboma 6613703C3150968OMIM1211654221601147
HP:0000505HP:0000505Visual impairment0GJA1 CL E G H26972710Hm syndromeORPHA11091414274121014
HP:0000505HP:0000505Visual impairment0GLRX5 CL E G H51218401866ORPHA164720134609588
HP:0000505HP:0000505Visual impairment0GLRX5 CL E G H51218616859Spasticity, childhood-onset, with hyperglycinemia616859C4225178OMIM164720134609588
HP:0000505HP:0000505Visual impairment0GMPPA CL E G H29926869ORPHA1127422923615495
HP:0000505HP:0000505Visual impairment0GMPPB CL E G H29925588ORPHA14915122932615320
HP:0000505HP:0000505Visual impairment0GNAT2 CL E G H2780613856Achromatopsia 4613856C1841721OMIM116914394139340
HP:0000505HP:0000505Visual impairment0GNAT2 CL E G H27801871Dionisi Vici Sabetta Gambarara syndromeORPHA116914394139340
HP:0000505HP:0000505Visual impairment0GPR143 CL E G H4935300500Ocular albinism, type I300500C0342684OMIM118126120145300808
HP:0000505HP:0000505Visual impairment0GRN CL E G H2896614706Ceroid lipofuscinosis, neuronal, 11614706C3539123OMIM12312684601138945
HP:0000505HP:0000505Visual impairment0GTF2I CL E G H2969904Blepharophimosis nasal groove growth retardationORPHA111574659601679
HP:0000505HP:0000505Visual impairment0GTF2IRD1 CL E G H9569904Blepharophimosis nasal groove growth retardationORPHA162064661604318
HP:0000505HP:0000505Visual impairment0GTPBP2 CL E G H54676617988JABERI-ELAHI SYNDROME617988CN244943OMIM15214670607434
HP:0000505HP:0000505Visual impairment0GUCA1A CL E G H29781871Dionisi Vici Sabetta Gambarara syndromeORPHA1231204678600364
HP:0000505HP:0000505Visual impairment0GUCA1B CL E G H2979613827Retinitis pigmentosa 48613827C3151190OMIM171074679602275
HP:0000505HP:0000505Visual impairment0HARS CL E G H3035614504Usher syndrome, type 3B614504C3281066OMIM1134816142810
HP:0000505HP:0000505Visual impairment0HESX1 CL E G H88203157Lachiewicz Sibley syndromeORPHA127464877601802
HP:0000505HP:0000505Visual impairment0HPS3 CL E G H84343614072Hermansky-Pudlak syndrome 3614072C3888001OMIM11721415597606118
HP:0000505HP:0000505Visual impairment0HSD17B4 CL E G H3295261515Bifunctional peroxisomal enzyme deficiency261515C0342870OMIM11013055213601860
HP:0000505HP:0000505Visual impairment0HSPG2 CL E G H3339800ORPHA1678625273142461
HP:0000505HP:0000505Visual impairment0IBA57 CL E G H200205615330Multiple mitochondrial dysfunctions syndrome 3615330C3809165OMIM12311327302615316
HP:0000505HP:0000505Visual impairment0IGBP1 CL E G H3476300472Corpus callosum, agenesis of, with mental retardation, ocular coloboma, and micrognathia300472C1845446OMIM121425461300139
HP:0000505HP:0000505Visual impairment0IKBKG CL E G H8517464Achromatopsia incomplete X-linkedCN036572ORPHA11512955961300248
HP:0000505HP:0000505Visual impairment0IMPDH1 CL E G H3614613837Leber congenital amaurosis 11613837C1840284OMIM1241986052146690
HP:0000505HP:0000505Visual impairment0INPP5E CL E G H566231454Common atrioventricular canalC0221215ORPHA15432521474613037
HP:0000505HP:0000505Visual impairment0ISCA2 CL E G H122961616370Multiple mitochondrial dysfunctions syndrome 4616370C4225348OMIM132919857615317
HP:0000505HP:0000505Visual impairment0ITPR1 CL E G H3708206700Gillespie syndrome206700C0431401OMIM1955016180147265
HP:0000505HP:0000505Visual impairment0LAMP2 CL E G H3920300257Danon disease300257C0878677OMIM11035356501309060
HP:0000505HP:0000505Visual impairment0LARGE1 CL E G H9215588ORPHA1284066511603590
HP:0000505HP:0000505Visual impairment0LCA5 CL E G H167691604537Leber congenital amaurosis 5604537C1858301OMIM14924631923611408
HP:0000505HP:0000505Visual impairment0LIMK1 CL E G H3984904Blepharophimosis nasal groove growth retardationORPHA171936613601329
HP:0000505HP:0000505Visual impairment0LRPAP1 CL E G H4043615431Myopia 23, autosomal recessive615431C3809482OMIM151186701104225
HP:0000505HP:0000505Visual impairment0LYST CL E G H1130214500Chédiak-Higashi syndrome214500C0007965OMIM11028071968606897
HP:0000505HP:0000505Visual impairment0MBD5 CL E G H55777156200Mental retardation, autosomal dominant 1156200C1969562OMIM19166420444611472
HP:0000505HP:0000505Visual impairment0MC1R CL E G H415779432ORPHA11093326929155555
HP:0000505HP:0000505Visual impairment0MCOLN1 CL E G H57192252650Mucolipidosis type IV252650C0238286OMIM13622813356605248
HP:0000505HP:0000505Visual impairment0MECR CL E G H51102617282Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities617282C4310634OMIM163219691608205
HP:0000505HP:0000505Visual impairment0MFF CL E G H56947617086Encephalopathy due to defective mitochondrial and peroxisomal fission 2617086C4310726OMIM146424858614785
HP:0000505HP:0000505Visual impairment0MICOS13 CL E G H12598867047ORPHA11833702616658
HP:0000505HP:0000505Visual impairment0MITF CL E G H4286103470Albinism, ocular, with sensorineural deafness103470C1863198OMIM1612407105156845
HP:0000505HP:0000505Visual impairment0MMACHC CL E G H25974277400Methylmalonic acidemia with homocystinuria277400C1848561OMIM19527424525609831
HP:0000505HP:0000505Visual impairment0NOTCH3 CL E G H4854136ORPHA13795917883600276
HP:0000505HP:0000505Visual impairment0NRL CL E G H4901613750Retinitis pigmentosa 27613750C1834329OMIM1251338002162080
HP:0000505HP:0000505Visual impairment0NTRK2 CL E G H4915617830EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 58617830CN757795OMIM113708032600456
HP:0000505HP:0000505Visual impairment0NUS1 CL E G H116150617082CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iaa617082C4310727OMIM1225721042610463
HP:0000505HP:0000505Visual impairment0OCA2 CL E G H494879432ORPHA13165388101611409
HP:0000505HP:0000505Visual impairment0OCRL CL E G H4952309000Lowe syndrome309000C0028860OMIM12643428108300535
HP:0000505HP:0000505Visual impairment0OPA1 CL E G H49761215Cerebro reno digital syndromeORPHA13944418140605290
HP:0000505HP:0000505Visual impairment0OPA3 CL E G H8020767047ORPHA1153188142606580
HP:0000505HP:0000505Visual impairment0OPA3 CL E G H802072585013-Methylglutaconic aciduria type 3258501C0574084OMIM1153188142606580
HP:0000505HP:0000505Visual impairment0OPN1LW CL E G H5956303700Cone monochromatism303700C0339537OMIM1632509936300822
HP:0000505HP:0000505Visual impairment0OPN1MW CL E G H2652303700Cone monochromatism303700C0339537OMIM1212404206300821
HP:0000505HP:0000505Visual impairment0OSGEP CL E G H55644617729GALLOWAY-MOWAT SYNDROME 3617729C4540266OMIM1174618028610107
HP:0000505HP:0000505Visual impairment0OSTM1 CL E G H28962259720Osteopetrosis, autosomal recessive 5259720C1968603OMIM1912921652607649
HP:0000505HP:0000505Visual impairment0OTX2 CL E G H50153157Lachiewicz Sibley syndromeORPHA178988522600037
HP:0000505HP:0000505Visual impairment0PAX2 CL E G H50761475Congenital bronchobiliary fistulaORPHA198938616167409
HP:0000505HP:0000505Visual impairment0PAX6 CL E G H5080893ORPHA15714968620607108
HP:0000505HP:0000505Visual impairment0PAX6 CL E G H5080136520Foveal hypoplasia and presenile cataract syndrome136520C3805604OMIM15714968620607108
HP:0000505HP:0000505Visual impairment0PAX6 CL E G H5080165550Optic nerve hypoplasia, bilateral165550C1833797OMIM15714968620607108
HP:0000505HP:0000505Visual impairment0PCARE CL E G H388939613428Retinitis pigmentosa 54613428C3150691OMIM15341834383613425
HP:0000505HP:0000505Visual impairment0PDE6C CL E G H5146613093Cone dystrophy 4613093C2751308OMIM1582208787600827
HP:0000505HP:0000505Visual impairment0PDE6C CL E G H51461871Dionisi Vici Sabetta Gambarara syndromeORPHA1582208787600827
HP:0000505HP:0000505Visual impairment0PEPD CL E G H5184742Aortic dissection lentiginosisORPHA1311298840613230
HP:0000505HP:0000505Visual impairment0PEX1 CL E G H5189912ORPHA11404898850602136
HP:0000505HP:0000505Visual impairment0PEX1 CL E G H518944MYBPC1-related conditionORPHA11404898850602136
HP:0000505HP:0000505Visual impairment0PEX10 CL E G H5192912ORPHA1323478851602859
HP:0000505HP:0000505Visual impairment0PEX10 CL E G H519244MYBPC1-related conditionORPHA1323478851602859
HP:0000505HP:0000505Visual impairment0PEX10 CL E G H5192614871Peroxisome biogenesis disorder 6B614871C3553948OMIM1323478851602859
HP:0000505HP:0000505Visual impairment0PEX11B CL E G H8799912ORPHA182478853603867
HP:0000505HP:0000505Visual impairment0PEX11B CL E G H879944MYBPC1-related conditionORPHA182478853603867
HP:0000505HP:0000505Visual impairment0PEX12 CL E G H5193912ORPHA1371818854601758
HP:0000505HP:0000505Visual impairment0PEX12 CL E G H519344MYBPC1-related conditionORPHA1371818854601758
HP:0000505HP:0000505Visual impairment0PEX13 CL E G H5194912ORPHA1101968855601789
HP:0000505HP:0000505Visual impairment0PEX13 CL E G H519444MYBPC1-related conditionORPHA1101968855601789
HP:0000505HP:0000505Visual impairment0PEX14 CL E G H5195912ORPHA151768856601791
HP:0000505HP:0000505Visual impairment0PEX14 CL E G H519544MYBPC1-related conditionORPHA151768856601791
HP:0000505HP:0000505Visual impairment0PEX16 CL E G H9409912ORPHA1151498857603360
HP:0000505HP:0000505Visual impairment0PEX16 CL E G H940944MYBPC1-related conditionORPHA1151498857603360
HP:0000505HP:0000505Visual impairment0PEX16 CL E G H9409614877Peroxisome biogenesis disorder 8B614877C3553960OMIM1151498857603360
HP:0000505HP:0000505Visual impairment0PEX19 CL E G H5824912ORPHA141339713600279
HP:0000505HP:0000505Visual impairment0PEX19 CL E G H582444MYBPC1-related conditionORPHA141339713600279
HP:0000505HP:0000505Visual impairment0PEX2 CL E G H5828912ORPHA1182089717170993
HP:0000505HP:0000505Visual impairment0PEX2 CL E G H582844MYBPC1-related conditionORPHA1182089717170993
HP:0000505HP:0000505Visual impairment0PEX2 CL E G H5828614867Peroxisome biogenesis disorder 5B614867C3542026OMIM1182089717170993
HP:0000505HP:0000505Visual impairment0PEX26 CL E G H55670912ORPHA12727722965608666
HP:0000505HP:0000505Visual impairment0PEX26 CL E G H5567044MYBPC1-related conditionORPHA12727722965608666
HP:0000505HP:0000505Visual impairment0PEX26 CL E G H55670614873Peroxisome biogenesis disorder 7B614873C3553951OMIM12727722965608666
HP:0000505HP:0000505Visual impairment0PEX3 CL E G H8504912ORPHA1101168858603164
HP:0000505HP:0000505Visual impairment0PEX3 CL E G H850444MYBPC1-related conditionORPHA1101168858603164
HP:0000505HP:0000505Visual impairment0PEX5 CL E G H5830912ORPHA1142809719600414
HP:0000505HP:0000505Visual impairment0PEX5 CL E G H583044MYBPC1-related conditionORPHA1142809719600414
HP:0000505HP:0000505Visual impairment0PEX6 CL E G H5190912ORPHA11093758859601498
HP:0000505HP:0000505Visual impairment0PEX6 CL E G H519044MYBPC1-related conditionORPHA11093758859601498
HP:0000505HP:0000505Visual impairment0PEX6 CL E G H5190614863Peroxisome biogenesis disorder 4B614863C3553937OMIM11093758859601498
HP:0000505HP:0000505Visual impairment0PHF6 CL E G H84295301900Borjeson-Forssman-Lehmann syndrome301900C0265339OMIM12923518145300414
HP:0000505HP:0000505Visual impairment0PHOX2A CL E G H401602078Fibrosis of extraocular muscles, congenital, 2602078C1865915OMIM1518691602753
HP:0000505HP:0000505Visual impairment0PIEZO2 CL E G H638951154Cataract mental retardation hypogonadismORPHA13232926270613629
HP:0000505HP:0000505Visual impairment0PIGT CL E G H51604615398Multiple congenital anomalies-hypotonia-seizures syndrome 3615398C3809356OMIM1127214938610272
HP:0000505HP:0000505Visual impairment0PITX3 CL E G H530988632ORPHA115299006602669
HP:0000505HP:0000505Visual impairment0PLA2G6 CL E G H839835069ORPHA11792899039603604
HP:0000505HP:0000505Visual impairment0PLK4 CL E G H107332518ORPHA169411397605031
HP:0000505HP:0000505Visual impairment0PLK4 CL E G H10733616171Microcephaly and chorioretinopathy, autosomal recessive, 2616171C4015388OMIM169411397605031
HP:0000505HP:0000505Visual impairment0PLOD1 CL E G H53511900ORPHA1424409081153454
HP:0000505HP:0000505Visual impairment0POLA1 CL E G H5422301220Pigmentary disorder, reticulate, with systemic manifestations, X-linked301220C1845050OMIM121829173312040
HP:0000505HP:0000505Visual impairment0POLR1C CL E G H9533861ORPHA1219220194610060
HP:0000505HP:0000505Visual impairment0POLR1D CL E G H51082861ORPHA1264820422613715
HP:0000505HP:0000505Visual impairment0POMGNT1 CL E G H55624588ORPHA18946119139606822
HP:0000505HP:0000505Visual impairment0POMT1 CL E G H10585588ORPHA1965089202607423
HP:0000505HP:0000505Visual impairment0POMT2 CL E G H29954588ORPHA17550219743607439
HP:0000505HP:0000505Visual impairment0PRDX1 CL E G H5052277400Methylmalonic acidemia with homocystinuria277400C1848561OMIM13229352176763
HP:0000505HP:0000505Visual impairment0PRNP CL E G H5621123400Jakob-Creutzfeldt disease123400C0022336OMIM11091269449176640
HP:0000505HP:0000505Visual impairment0PROKR2 CL E G H1286743157Lachiewicz Sibley syndromeORPHA1839815836607123
HP:0000505HP:0000505Visual impairment0PRPS1 CL E G H56311187Cerebellar agenesisORPHA1322599462311850
HP:0000505HP:0000505Visual impairment0PTPN22 CL E G H261913437ORPHA114289652600716
HP:0000505HP:0000505Visual impairment0RAB11B CL E G H9230617807NEURODEVELOPMENTAL DISORDER WITH ATAXIC GAIT, ABSENT SPEECH, AND DECREASED CORTICAL WHITE MATTER617807C4540498OMIM12149761604198
HP:0000505HP:0000505Visual impairment0RFC2 CL E G H5982904Blepharophimosis nasal groove growth retardationORPHA141739970600404
HP:0000505HP:0000505Visual impairment0RFT1 CL E G H91869244310ORPHA11317930220611908
HP:0000505HP:0000505Visual impairment0RGS9 CL E G H878775374ORPHA1310410004604067
HP:0000505HP:0000505Visual impairment0RGS9BP CL E G H38853175374ORPHA173830304607814
HP:0000505HP:0000505Visual impairment0RIMS1 CL E G H22999603649Cone-rod dystrophy 7603649C1863634OMIM11230217282606629
HP:0000505HP:0000505Visual impairment0RMRP CL E G H6023175ORPHA112341110031157660
HP:0000505HP:0000505Visual impairment0RPE65 CL E G H6121613794Retinitis pigmentosa 20613794C3151086OMIM120832710294180069
HP:0000505HP:0000505Visual impairment0RPGR CL E G H6103304020Cone-rod dystrophy, X-linked 1304020C1844776OMIM124566210295312610
HP:0000505HP:0000505Visual impairment0RPGRIP1L CL E G H233221454Common atrioventricular canalC0221215ORPHA15143229168610937
HP:0000505HP:0000505Visual impairment0SAG CL E G H6295613758Retinitis pigmentosa 47613758C3151061OMIM11613210521181031
HP:0000505HP:0000505Visual impairment0SALL4 CL E G H57167959ORPHA15714815924607343
HP:0000505HP:0000505Visual impairment0SDHA CL E G H6389252011Mitochondrial complex II deficiency252011C1855008OMIM191127910680600857
HP:0000505HP:0000505Visual impairment0SDHAF1 CL E G H644096252011Mitochondrial complex II deficiency252011C1855008OMIM164033867612848
HP:0000505HP:0000505Visual impairment0SDHD CL E G H6392252011Mitochondrial complex II deficiency252011C1855008OMIM117436110683602690
HP:0000505HP:0000505Visual impairment0SETBP1 CL E G H26040798ORPHA14721215573611060
HP:0000505HP:0000505Visual impairment0SFXN4 CL E G H119559615578Combined oxidative phosphorylation deficiency 18615578C3810001OMIM148916088615564
HP:0000505HP:0000505Visual impairment0SLC45A2 CL E G H5115179435ORPHA116112416472606202
HP:0000505HP:0000505Visual impairment0SLC45A2 CL E G H51151606574Oculocutaneous albinism type 4606574C1847836OMIM116112416472606202
HP:0000505HP:0000505Visual impairment0SLC4A11 CL E G H839591490Congenital ichtyosiform erythrodermaORPHA19525016438610206
HP:0000505HP:0000505Visual impairment0SLC4A11 CL E G H83959613268Corneal dystrophy, Fuchs endothelial, 4613268C2750450OMIM19525016438610206
HP:0000505HP:0000505Visual impairment0SMARCB1 CL E G H6598614608Mental retardation, autosomal dominant 15614608C3553248OMIM111948211103601607
HP:0000505HP:0000505Visual impairment0SMG9 CL E G H56006616920Heart and brain malformation syndrome616920C4310793OMIM122925763613176
HP:0000505HP:0000505Visual impairment0SNRNP200 CL E G H23020610359Retinitis pigmentosa 33610359C1835895OMIM13529930859601664
HP:0000505HP:0000505Visual impairment0SNX10 CL E G H29887667ORPHA1134614974614780
HP:0000505HP:0000505Visual impairment0SOX2 CL E G H66573157Lachiewicz Sibley syndromeORPHA110510511195184429
HP:0000505HP:0000505Visual impairment0SOX3 CL E G H66583157Lachiewicz Sibley syndromeORPHA12821811199313430
HP:0000505HP:0000505Visual impairment0SPG11 CL E G H80208604360Spastic paraplegia 11, autosomal recessive604360C1858479OMIM1293106511226610844
HP:0000505HP:0000505Visual impairment0SUCLA2 CL E G H88031933ORPHA12918911448603921
HP:0000505HP:0000505Visual impairment0SUMF1 CL E G H285362585ORPHA15526520376607939
HP:0000505HP:0000505Visual impairment0SYNJ1 CL E G H8867617389Epileptic encephalopathy, early infantile, 53617389C4479313OMIM12745211503604297
HP:0000505HP:0000505Visual impairment0TBL2 CL E G H26608904Blepharophimosis nasal groove growth retardationORPHA115911586605842
HP:0000505HP:0000505Visual impairment0TCIRG1 CL E G H10312667ORPHA113728911647604592
HP:0000505HP:0000505Visual impairment0TCOF1 CL E G H6949861ORPHA133325011654606847
HP:0000505HP:0000505Visual impairment0TGFBI CL E G H7045608471Lattice corneal dystrophy type 3A608471C1837974OMIM17011911771601692
HP:0000505HP:0000505Visual impairment0TIMM8A CL E G H1678304700Mohr-Tranebjaerg syndrome304700C0796074OMIM12218511817300356
HP:0000505HP:0000505Visual impairment0TMEM216 CL E G H51259608091Joubert syndrome 2608091C1842577OMIM1810925018613277
HP:0000505HP:0000505Visual impairment0TMEM67 CL E G H911471454Common atrioventricular canalC0221215ORPHA117431628396609884
HP:0000505HP:0000505Visual impairment0TNFSF11 CL E G H8600667ORPHA11611711926602642
HP:0000505HP:0000505Visual impairment0TP53RK CL E G H112858617730GALLOWAY-MOWAT SYNDROME 4617730C4540270OMIM152616197608679
HP:0000505HP:0000505Visual impairment0TRAPPC11 CL E G H60684869ORPHA11735125751614138
HP:0000505HP:0000505Visual impairment0TREX1 CL E G H11277192315Vasculopathy, retinal, with cerebral leukodystrophy192315C1860518OMIM17115312269606609
HP:0000505HP:0000505Visual impairment0TSEN2 CL E G H80746612389Pontocerebellar hypoplasia type 2B612389C2676466OMIM1515228422608753
HP:0000505HP:0000505Visual impairment0TSEN34 CL E G H79042612390Pontocerebellar hypoplasia type 2C612390C2676465OMIM1210515506608754
HP:0000505HP:0000505Visual impairment0TSEN54 CL E G H283989277470Pontocerebellar hypoplasia type 2A277470C1848526OMIM12117627561608755
HP:0000505HP:0000505Visual impairment0TSFM CL E G H10102610505Combined oxidative phosphorylation deficiency 3610505C1864840OMIM1710312367604723
HP:0000505HP:0000505Visual impairment0TTR CL E G H7276105210Amyloidogenic transthyretin amyloidosis105210C2751492OMIM115124012405176300
HP:0000505HP:0000505Visual impairment0TUBB4A CL E G H10382612438Leukodystrophy, hypomyelinating, 6612438C2676244OMIM14213920774602662
HP:0000505HP:0000505Visual impairment0TUBGCP4 CL E G H272292518ORPHA167916691609610
HP:0000505HP:0000505Visual impairment0TUBGCP6 CL E G H853782518ORPHA1748418127610053
HP:0000505HP:0000505Visual impairment0TUBGCP6 CL E G H85378251270Microcephaly with chorioretinopathy, autosomal recessive251270C3278481OMIM1748418127610053
HP:0000505HP:0000505Visual impairment0TWIST2 CL E G H117581920Bone dysplasia Azouz typeORPHA198820670607556
HP:0000505HP:0000505Visual impairment0TYR CL E G H729979431ORPHA144522612442606933
HP:0000505HP:0000505Visual impairment0TYR CL E G H729979434ORPHA144522612442606933
HP:0000505HP:0000505Visual impairment0TYR CL E G H7299103470Albinism, ocular, with sensorineural deafness103470C1863198OMIM144522612442606933
HP:0000505HP:0000505Visual impairment0TYR CL E G H7299606952Oculocutaneous albinism type 1B606952C1847024OMIM144522612442606933
HP:0000505HP:0000505Visual impairment0VPS13B CL E G H157680216550Cohen syndrome216550C0265223OMIM121316062183607817
HP:0000505HP:0000505Visual impairment0WT1 CL E G H7490893ORPHA118463512796607102
HP:0000505HP:0000505Visual impairment0ZFYVE26 CL E G H23503270700Spastic paraplegia 15270700C1849128OMIM14570020761612012
HP:0000505HP:0000505Visual impairment1AAAS CL E G H8086869ORPHA1799913666605378
HP:0000505HP:0000505Visual impairment1ABCA1 CL E G H19205400Tangier disease205400C0039292OMIM124035229600046
HP:0000505HP:0000505Visual impairment1ABCC6 CL E G H368177850Pseudoxanthoma elasticum, forme fruste177850C1867450OMIM138082157603234
HP:0000505HP:0000505Visual impairment1ADAM9 CL E G H8754612775Cone-rod dystrophy 9612775C1423873OMIM111164216602713
HP:0000505HP:0000505Visual impairment1ADNP CL E G H23394615873Helsmoortel-van der aa syndrome615873C4014538OMIM16817915766611386
HP:0000505HP:0000505Visual impairment1AHI1 CL E G H54806608629Joubert syndrome 3608629C1837713OMIM19642221575608894
HP:0000505HP:0000505Visual impairment1AIMP1 CL E G H9255260600Leukodystrophy, hypomyelinating 3260600C1850053OMIM153410648603605
HP:0000505HP:0000505Visual impairment1AIRE CL E G H3263453Meier Rotschild syndromeORPHA1141417360607358
HP:0000505HP:0000505Visual impairment1ALG2 CL E G H85365607906Congenital disorder of glycosylation type 1I607906C1842836OMIM1515323159607905
HP:0000505HP:0000505Visual impairment1AMACR CL E G H23600614307Alpha-methylacyl-CoA racemase deficiency614307C3280428OMIM114147451604489
HP:0000505HP:0000505Visual impairment1ANTXR1 CL E G H841682067ORPHA1142421014606410
HP:0000505HP:0000505Visual impairment1AP3B1 CL E G H8546608233Hermansky Pudlak syndrome 2608233C1842362OMIM135238566603401
HP:0000505HP:0000505Visual impairment1AP3D1 CL E G H8943284804ORPHA1490568607246
HP:0000505HP:0000505Visual impairment1ARID1A CL E G H8289614607Mental retardation, autosomal dominant 14614607C3553247OMIM13617511110603024
HP:0000505HP:0000505Visual impairment1ARID1B CL E G H57492135900Coffin-Siris syndrome 1135900C3281201OMIM118857518040614556
HP:0000505HP:0000505Visual impairment1ARNT2 CL E G H99153157Lachiewicz Sibley syndromeORPHA164916876606036
HP:0000505HP:0000505Visual impairment1ARX CL E G H170302300004Proud Levine Carpenter syndrome300004C0796124OMIM19846618060300382
HP:0000505HP:0000505Visual impairment1B3GALNT2 CL E G H148789588ORPHA11622128596610194
HP:0000505HP:0000505Visual impairment1BAZ1B CL E G H9031904Blepharophimosis nasal groove growth retardationORPHA15187961605681
HP:0000505HP:0000505Visual impairment1BDNF CL E G H627893ORPHA135431033113505
HP:0000505HP:0000505Visual impairment1BEST1 CL E G H7439153700Vitelliform macular dystrophy type 2153700C0339510OMIM131935412703607854
HP:0000505HP:0000505Visual impairment1BLOC1S3 CL E G H388552614077Hermansky-Pudlak syndrome 8614077C3888026OMIM142920914609762
HP:0000505HP:0000505Visual impairment1C12orf65 CL E G H91574613559Combined oxidative phosphorylation deficiency 7613559C3150801OMIM11111426784613541
HP:0000505HP:0000505Visual impairment1CA2 CL E G H760259730Osteopetrosis with renal tubular acidosis259730C0345407OMIM131761373611492
HP:0000505HP:0000505Visual impairment1CABP4 CL E G H57010610427Congenital stationary night blindness, type 2B610427C1864877OMIM1131941386608965
HP:0000505HP:0000505Visual impairment1CACNA1F CL E G H778300071Congenital stationary night blindness, type 2A300071C1848172OMIM11854081393300110
HP:0000505HP:0000505Visual impairment1CACNA2D4 CL E G H93589610478Retinal cone dystrophy 4610478C1864849OMIM1939120202608171
HP:0000505HP:0000505Visual impairment1CAMK2B CL E G H816617799MENTAL RETARDATION, AUTOSOMAL DOMINANT 54617799C4540484OMIM111491461607707
HP:0000505HP:0000505Visual impairment1CARS2 CL E G H79587616672Combined oxidative phosphorylation deficiency 27616672C4225251OMIM1436025695612800
HP:0000505HP:0000505Visual impairment1CASK CL E G H8573163937ORPHA11194461497300172
HP:0000505HP:0000505Visual impairment1CC2D2A CL E G H575451454Common atrioventricular canalC0221215ORPHA19658429253612013
HP:0000505HP:0000505Visual impairment1CEP290 CL E G H80184611755Leber congenital amaurosis 10611755C1857821OMIM131088429021610142
HP:0000505HP:0000505Visual impairment1CEP290 CL E G H80184610189Senior-Loken syndrome 6610189C1857779OMIM131088429021610142
HP:0000505HP:0000505Visual impairment1CKAP2L CL E G H150468272440Filippi syndrome272440C0795940OMIM174226877616174
HP:0000505HP:0000505Visual impairment1CLCN7 CL E G H1186667ORPHA11002682025602727
HP:0000505HP:0000505Visual impairment1CLCN7 CL E G H1186611490Osteopetrosis autosomal recessive 4611490C1969106OMIM11002682025602727
HP:0000505HP:0000505Visual impairment1CLIP2 CL E G H7461904Blepharophimosis nasal groove growth retardationORPHA111742586603432
HP:0000505HP:0000505Visual impairment1CLRN1 CL E G H7401614180Retinitis pigmentosa 61614180C3280041OMIM13917512605606397
HP:0000505HP:0000505Visual impairment1CNGB3 CL E G H547141871Dionisi Vici Sabetta Gambarara syndromeORPHA11264102153605080
HP:0000505HP:0000505Visual impairment1CNNM4 CL E G H265041873Diphallus rachischisis imperforate anusORPHA124200105607805
HP:0000505HP:0000505Visual impairment1CNTNAP1 CL E G H8506618186Congenital hypomyelinating neuropathy 3618186OMIM121758011602346
HP:0000505HP:0000505Visual impairment1COL17A1 CL E G H1308122400Epithelial recurrent erosion dystrophy122400C1852551OMIM11142592194113811
HP:0000505HP:0000505Visual impairment1COQ7 CL E G H10229616733Coenzyme Q10 deficiency, primary, 8616733C4225226OMIM15492244601683
HP:0000505HP:0000505Visual impairment1CRB1 CL E G H23418613835Leber congenital amaurosis 8613835C3151202OMIM13475442343604210
HP:0000505HP:0000505Visual impairment1CRX CL E G H1406613829Leber congenital amaurosis 7613829C3151192OMIM11072982383602225
HP:0000505HP:0000505Visual impairment1EARS2 CL E G H124454614924Combined oxidative phosphorylation deficiency 12614924C3554079OMIM13017929419612799
HP:0000505HP:0000505Visual impairment1EFEMP1 CL E G H2202126600Doyne honeycomb retinal dystrophy126600C1832174OMIM191103218601548
HP:0000505HP:0000505Visual impairment1ELN CL E G H2006904Blepharophimosis nasal groove growth retardationORPHA11275233327130160
HP:0000505HP:0000505Visual impairment1ERCC1 CL E G H20671466ORPHA18533433126380
HP:0000505HP:0000505Visual impairment1ERCC2 CL E G H20681466ORPHA11082273434126340
HP:0000505HP:0000505Visual impairment1ERCC4 CL E G H2072610965XFE progeroid syndrome610965C1970416OMIM1723483436133520
HP:0000505HP:0000505Visual impairment1ERCC5 CL E G H20731466ORPHA1592633437133530
HP:0000505HP:0000505Visual impairment1ERCC6 CL E G H20741466ORPHA11404993438609413
HP:0000505HP:0000505Visual impairment1EXOSC8 CL E G H11340616081Pontocerebellar hypoplasia, type 1c616081C4015160OMIM136017035606019
HP:0000505HP:0000505Visual impairment1FAS CL E G H3553437ORPHA114216911920134637
HP:0000505HP:0000505Visual impairment1FDXR CL E G H2232617717AUDITORY NEUROPATHY AND OPTIC ATROPHY617717C4521678OMIM119453642103270
HP:0000505HP:0000505Visual impairment1FGFR1 CL E G H22603157Lachiewicz Sibley syndromeORPHA12653883688136350
HP:0000505HP:0000505Visual impairment1FGFR2 CL E G H2263123500Crouzon syndrome123500C0010273OMIM11593363689176943
HP:0000505HP:0000505Visual impairment1FH CL E G H2271606812Fumarase deficiency606812C0342770OMIM12168903700136850
HP:0000505HP:0000505Visual impairment1FKRP CL E G H79147588ORPHA114140217997606596
HP:0000505HP:0000505Visual impairment1FKTN CL E G H2218588ORPHA1594503622607440
HP:0000505HP:0000505Visual impairment1FOXE3 CL E G H230188632ORPHA131863808601094
HP:0000505HP:0000505Visual impairment1FSCN2 CL E G H25794607921Retinitis pigmentosa 30607921C1842816OMIM1151673960607643
HP:0000505HP:0000505Visual impairment1GDF3 CL E G H9573613703Microphthalmia, isolated, with coloboma 6613703C3150968OMIM16664218606522
HP:0000505HP:0000505Visual impairment1GDF6 CL E G H392255613703Microphthalmia, isolated, with coloboma 6613703C3150968OMIM1211654221601147
HP:0000505HP:0000505Visual impairment1GJA1 CL E G H26972710Hm syndromeORPHA11091414274121014
HP:0000505HP:0000505Visual impairment1GLRX5 CL E G H51218401866ORPHA164720134609588
HP:0000505HP:0000505Visual impairment1GLRX5 CL E G H51218616859Spasticity, childhood-onset, with hyperglycinemia616859C4225178OMIM164720134609588
HP:0000505HP:0000505Visual impairment1GMPPA CL E G H29926869ORPHA1127422923615495
HP:0000505HP:0000505Visual impairment1GMPPB CL E G H29925588ORPHA14915122932615320
HP:0000505HP:0000505Visual impairment1GNAT2 CL E G H2780613856Achromatopsia 4613856C1841721OMIM116914394139340
HP:0000505HP:0000505Visual impairment1GNAT2 CL E G H27801871Dionisi Vici Sabetta Gambarara syndromeORPHA116914394139340
HP:0000505HP:0000505Visual impairment1GPR143 CL E G H4935300500Ocular albinism, type I300500C0342684OMIM118126120145300808
HP:0000505HP:0000505Visual impairment1GRN CL E G H2896614706Ceroid lipofuscinosis, neuronal, 11614706C3539123OMIM12312684601138945
HP:0000505HP:0000505Visual impairment1GTF2I CL E G H2969904Blepharophimosis nasal groove growth retardationORPHA111574659601679
HP:0000505HP:0000505Visual impairment1GTF2IRD1 CL E G H9569904Blepharophimosis nasal groove growth retardationORPHA162064661604318
HP:0000505HP:0000505Visual impairment1GTPBP2 CL E G H54676617988JABERI-ELAHI SYNDROME617988CN244943OMIM15214670607434
HP:0000505HP:0000505Visual impairment1GUCA1A CL E G H29781871Dionisi Vici Sabetta Gambarara syndromeORPHA1231204678600364
HP:0000505HP:0000505Visual impairment1GUCA1B CL E G H2979613827Retinitis pigmentosa 48613827C3151190OMIM171074679602275
HP:0000505HP:0000505Visual impairment1HARS CL E G H3035614504Usher syndrome, type 3B614504C3281066OMIM1134816142810
HP:0000505HP:0000505Visual impairment1HESX1 CL E G H88203157Lachiewicz Sibley syndromeORPHA127464877601802
HP:0000505HP:0000505Visual impairment1HPS3 CL E G H84343614072Hermansky-Pudlak syndrome 3614072C3888001OMIM11721415597606118
HP:0000505HP:0000505Visual impairment1HSD17B4 CL E G H3295261515Bifunctional peroxisomal enzyme deficiency261515C0342870OMIM11013055213601860
HP:0000505HP:0000505Visual impairment1HSPG2 CL E G H3339800ORPHA1678625273142461
HP:0000505HP:0000505Visual impairment1IBA57 CL E G H200205615330Multiple mitochondrial dysfunctions syndrome 3615330C3809165OMIM12311327302615316
HP:0000505HP:0000505Visual impairment1IGBP1 CL E G H3476300472Corpus callosum, agenesis of, with mental retardation, ocular coloboma, and micrognathia300472C1845446OMIM121425461300139
HP:0000505HP:0000505Visual impairment1IKBKG CL E G H8517464Achromatopsia incomplete X-linkedCN036572ORPHA11512955961300248
HP:0000505HP:0000505Visual impairment1IMPDH1 CL E G H3614613837Leber congenital amaurosis 11613837C1840284OMIM1241986052146690
HP:0000505HP:0000505Visual impairment1INPP5E CL E G H566231454Common atrioventricular canalC0221215ORPHA15432521474613037
HP:0000505HP:0000505Visual impairment1ISCA2 CL E G H122961616370Multiple mitochondrial dysfunctions syndrome 4616370C4225348OMIM132919857615317
HP:0000505HP:0000505Visual impairment1ITPR1 CL E G H3708206700Gillespie syndrome206700C0431401OMIM1955016180147265
HP:0000505HP:0000505Visual impairment1LAMP2 CL E G H3920300257Danon disease300257C0878677OMIM11035356501309060
HP:0000505HP:0000505Visual impairment1LARGE1 CL E G H9215588ORPHA1284066511603590
HP:0000505HP:0000505Visual impairment1LCA5 CL E G H167691604537Leber congenital amaurosis 5604537C1858301OMIM14924631923611408
HP:0000505HP:0000505Visual impairment1LIMK1 CL E G H3984904Blepharophimosis nasal groove growth retardationORPHA171936613601329
HP:0000505HP:0000505Visual impairment1LRPAP1 CL E G H4043615431Myopia 23, autosomal recessive615431C3809482OMIM151186701104225
HP:0000505HP:0000505Visual impairment1LYST CL E G H1130214500Chédiak-Higashi syndrome214500C0007965OMIM11028071968606897
HP:0000505HP:0000505Visual impairment1MBD5 CL E G H55777156200Mental retardation, autosomal dominant 1156200C1969562OMIM19166420444611472
HP:0000505HP:0000505Visual impairment1MC1R CL E G H415779432ORPHA11093326929155555
HP:0000505HP:0000505Visual impairment1MCOLN1 CL E G H57192252650Mucolipidosis type IV252650C0238286OMIM13622813356605248
HP:0000505HP:0000505Visual impairment1MECR CL E G H51102617282Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities617282C4310634OMIM163219691608205
HP:0000505HP:0000505Visual impairment1MFF CL E G H56947617086Encephalopathy due to defective mitochondrial and peroxisomal fission 2617086C4310726OMIM146424858614785
HP:0000505HP:0000505Visual impairment1MICOS13 CL E G H12598867047ORPHA11833702616658
HP:0000505HP:0000505Visual impairment1MITF CL E G H4286103470Albinism, ocular, with sensorineural deafness103470C1863198OMIM1612407105156845
HP:0000505HP:0000505Visual impairment1MMACHC CL E G H25974277400Methylmalonic acidemia with homocystinuria277400C1848561OMIM19527424525609831
HP:0000505HP:0000505Visual impairment1NOTCH3 CL E G H4854136ORPHA13795917883600276
HP:0000505HP:0000505Visual impairment1NRL CL E G H4901613750Retinitis pigmentosa 27613750C1834329OMIM1251338002162080
HP:0000505HP:0000505Visual impairment1NTRK2 CL E G H4915617830EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 58617830CN757795OMIM113708032600456
HP:0000505HP:0000505Visual impairment1NUS1 CL E G H116150617082CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iaa617082C4310727OMIM1225721042610463
HP:0000505HP:0000505Visual impairment1OCA2 CL E G H494879432ORPHA13165388101611409
HP:0000505HP:0000505Visual impairment1OCRL CL E G H4952309000Lowe syndrome309000C0028860OMIM12643428108300535
HP:0000505HP:0000505Visual impairment1OPA1 CL E G H49761215Cerebro reno digital syndromeORPHA13944418140605290
HP:0000505HP:0000505Visual impairment1OPA3 CL E G H8020767047ORPHA1153188142606580
HP:0000505HP:0000505Visual impairment1OPA3 CL E G H802072585013-Methylglutaconic aciduria type 3258501C0574084OMIM1153188142606580
HP:0000505HP:0000505Visual impairment1OPN1LW CL E G H5956303700Cone monochromatism303700C0339537OMIM1632509936300822
HP:0000505HP:0000505Visual impairment1OPN1MW CL E G H2652303700Cone monochromatism303700C0339537OMIM1212404206300821
HP:0000505HP:0000505Visual impairment1OSGEP CL E G H55644617729GALLOWAY-MOWAT SYNDROME 3617729C4540266OMIM1174618028610107
HP:0000505HP:0000505Visual impairment1OSTM1 CL E G H28962259720Osteopetrosis, autosomal recessive 5259720C1968603OMIM1912921652607649
HP:0000505HP:0000505Visual impairment1OTX2 CL E G H50153157Lachiewicz Sibley syndromeORPHA178988522600037
HP:0000505HP:0000505Visual impairment1PAX2 CL E G H50761475Congenital bronchobiliary fistulaORPHA198938616167409
HP:0000505HP:0000505Visual impairment1PAX6 CL E G H5080893ORPHA15714968620607108
HP:0000505HP:0000505Visual impairment1PAX6 CL E G H5080136520Foveal hypoplasia and presenile cataract syndrome136520C3805604OMIM15714968620607108
HP:0000505HP:0000505Visual impairment1PAX6 CL E G H5080165550Optic nerve hypoplasia, bilateral165550C1833797OMIM15714968620607108
HP:0000505HP:0000505Visual impairment1PCARE CL E G H388939613428Retinitis pigmentosa 54613428C3150691OMIM15341834383613425
HP:0000505HP:0000505Visual impairment1PDE6C CL E G H5146613093Cone dystrophy 4613093C2751308OMIM1582208787600827
HP:0000505HP:0000505Visual impairment1PDE6C CL E G H51461871Dionisi Vici Sabetta Gambarara syndromeORPHA1582208787600827
HP:0000505HP:0000505Visual impairment1PEPD CL E G H5184742Aortic dissection lentiginosisORPHA1311298840613230
HP:0000505HP:0000505Visual impairment1PEX1 CL E G H5189912ORPHA11404898850602136
HP:0000505HP:0000505Visual impairment1PEX1 CL E G H518944MYBPC1-related conditionORPHA11404898850602136
HP:0000505HP:0000505Visual impairment1PEX10 CL E G H5192912ORPHA1323478851602859
HP:0000505HP:0000505Visual impairment1PEX10 CL E G H519244MYBPC1-related conditionORPHA1323478851602859
HP:0000505HP:0000505Visual impairment1PEX10 CL E G H5192614871Peroxisome biogenesis disorder 6B614871C3553948OMIM1323478851602859
HP:0000505HP:0000505Visual impairment1PEX11B CL E G H8799912ORPHA182478853603867
HP:0000505HP:0000505Visual impairment1PEX11B CL E G H879944MYBPC1-related conditionORPHA182478853603867
HP:0000505HP:0000505Visual impairment1PEX12 CL E G H5193912ORPHA1371818854601758
HP:0000505HP:0000505Visual impairment1PEX12 CL E G H519344MYBPC1-related conditionORPHA1371818854601758
HP:0000505HP:0000505Visual impairment1PEX13 CL E G H5194912ORPHA1101968855601789
HP:0000505HP:0000505Visual impairment1PEX13 CL E G H519444MYBPC1-related conditionORPHA1101968855601789
HP:0000505HP:0000505Visual impairment1PEX14 CL E G H5195912ORPHA151768856601791
HP:0000505HP:0000505Visual impairment1PEX14 CL E G H519544MYBPC1-related conditionORPHA151768856601791
HP:0000505HP:0000505Visual impairment1PEX16 CL E G H9409912ORPHA1151498857603360
HP:0000505HP:0000505Visual impairment1PEX16 CL E G H940944MYBPC1-related conditionORPHA1151498857603360
HP:0000505HP:0000505Visual impairment1PEX16 CL E G H9409614877Peroxisome biogenesis disorder 8B614877C3553960OMIM1151498857603360
HP:0000505HP:0000505Visual impairment1PEX19 CL E G H5824912ORPHA141339713600279
HP:0000505HP:0000505Visual impairment1PEX19 CL E G H582444MYBPC1-related conditionORPHA141339713600279
HP:0000505HP:0000505Visual impairment1PEX2 CL E G H5828912ORPHA1182089717170993
HP:0000505HP:0000505Visual impairment1PEX2 CL E G H582844MYBPC1-related conditionORPHA1182089717170993
HP:0000505HP:0000505Visual impairment1PEX2 CL E G H5828614867Peroxisome biogenesis disorder 5B614867C3542026OMIM1182089717170993
HP:0000505HP:0000505Visual impairment1PEX26 CL E G H55670912ORPHA12727722965608666
HP:0000505HP:0000505Visual impairment1PEX26 CL E G H5567044MYBPC1-related conditionORPHA12727722965608666
HP:0000505HP:0000505Visual impairment1PEX26 CL E G H55670614873Peroxisome biogenesis disorder 7B614873C3553951OMIM12727722965608666
HP:0000505HP:0000505Visual impairment1PEX3 CL E G H8504912ORPHA1101168858603164
HP:0000505HP:0000505Visual impairment1PEX3 CL E G H850444MYBPC1-related conditionORPHA1101168858603164
HP:0000505HP:0000505Visual impairment1PEX5 CL E G H5830912ORPHA1142809719600414
HP:0000505HP:0000505Visual impairment1PEX5 CL E G H583044MYBPC1-related conditionORPHA1142809719600414
HP:0000505HP:0000505Visual impairment1PEX6 CL E G H5190912ORPHA11093758859601498
HP:0000505HP:0000505Visual impairment1PEX6 CL E G H519044MYBPC1-related conditionORPHA11093758859601498
HP:0000505HP:0000505Visual impairment1PEX6 CL E G H5190614863Peroxisome biogenesis disorder 4B614863C3553937OMIM11093758859601498
HP:0000505HP:0000505Visual impairment1PHF6 CL E G H84295301900Borjeson-Forssman-Lehmann syndrome301900C0265339OMIM12923518145300414
HP:0000505HP:0000505Visual impairment1PHOX2A CL E G H401602078Fibrosis of extraocular muscles, congenital, 2602078C1865915OMIM1518691602753
HP:0000505HP:0000505Visual impairment1PIEZO2 CL E G H638951154Cataract mental retardation hypogonadismORPHA13232926270613629
HP:0000505HP:0000505Visual impairment1PIGT CL E G H51604615398Multiple congenital anomalies-hypotonia-seizures syndrome 3615398C3809356OMIM1127214938610272
HP:0000505HP:0000505Visual impairment1PITX3 CL E G H530988632ORPHA115299006602669
HP:0000505HP:0000505Visual impairment1PLA2G6 CL E G H839835069ORPHA11792899039603604
HP:0000505HP:0000505Visual impairment1PLK4 CL E G H107332518ORPHA169411397605031
HP:0000505HP:0000505Visual impairment1PLK4 CL E G H10733616171Microcephaly and chorioretinopathy, autosomal recessive, 2616171C4015388OMIM169411397605031
HP:0000505HP:0000505Visual impairment1PLOD1 CL E G H53511900ORPHA1424409081153454
HP:0000505HP:0000505Visual impairment1POLA1 CL E G H5422301220Pigmentary disorder, reticulate, with systemic manifestations, X-linked301220C1845050OMIM121829173312040
HP:0000505HP:0000505Visual impairment1POLR1C CL E G H9533861ORPHA1219220194610060
HP:0000505HP:0000505Visual impairment1POLR1D CL E G H51082861ORPHA1264820422613715
HP:0000505HP:0000505Visual impairment1POMGNT1 CL E G H55624588ORPHA18946119139606822
HP:0000505HP:0000505Visual impairment1POMT1 CL E G H10585588ORPHA1965089202607423
HP:0000505HP:0000505Visual impairment1POMT2 CL E G H29954588ORPHA17550219743607439
HP:0000505HP:0000505Visual impairment1PRDX1 CL E G H5052277400Methylmalonic acidemia with homocystinuria277400C1848561OMIM13229352176763
HP:0000505HP:0000505Visual impairment1PRNP CL E G H5621123400Jakob-Creutzfeldt disease123400C0022336OMIM11091269449176640
HP:0000505HP:0000505Visual impairment1PROKR2 CL E G H1286743157Lachiewicz Sibley syndromeORPHA1839815836607123
HP:0000505HP:0000505Visual impairment1PRPS1 CL E G H56311187Cerebellar agenesisORPHA1322599462311850
HP:0000505HP:0000505Visual impairment1PTPN22 CL E G H261913437ORPHA114289652600716
HP:0000505HP:0000505Visual impairment1RAB11B CL E G H9230617807NEURODEVELOPMENTAL DISORDER WITH ATAXIC GAIT, ABSENT SPEECH, AND DECREASED CORTICAL WHITE MATTER617807C4540498OMIM12149761604198
HP:0000505HP:0000505Visual impairment1RFC2 CL E G H5982904Blepharophimosis nasal groove growth retardationORPHA141739970600404
HP:0000505HP:0000505Visual impairment1RFT1 CL E G H91869244310ORPHA11317930220611908
HP:0000505HP:0000505Visual impairment1RGS9 CL E G H878775374ORPHA1310410004604067
HP:0000505HP:0000505Visual impairment1RGS9BP CL E G H38853175374ORPHA173830304607814
HP:0000505HP:0000505Visual impairment1RIMS1 CL E G H22999603649Cone-rod dystrophy 7603649C1863634OMIM11230217282606629
HP:0000505HP:0000505Visual impairment1RMRP CL E G H6023175ORPHA112341110031157660
HP:0000505HP:0000505Visual impairment1RPE65 CL E G H6121613794Retinitis pigmentosa 20613794C3151086OMIM120832710294180069
HP:0000505HP:0000505Visual impairment1RPGR CL E G H6103304020Cone-rod dystrophy, X-linked 1304020C1844776OMIM124566210295312610
HP:0000505HP:0000505Visual impairment1RPGRIP1L CL E G H233221454Common atrioventricular canalC0221215ORPHA15143229168610937
HP:0000505HP:0000505Visual impairment1SAG CL E G H6295613758Retinitis pigmentosa 47613758C3151061OMIM11613210521181031
HP:0000505HP:0000505Visual impairment1SALL4 CL E G H57167959ORPHA15714815924607343
HP:0000505HP:0000505Visual impairment1SDHA CL E G H6389252011Mitochondrial complex II deficiency252011C1855008OMIM191127910680600857
HP:0000505HP:0000505Visual impairment1SDHAF1 CL E G H644096252011Mitochondrial complex II deficiency252011C1855008OMIM164033867612848
HP:0000505HP:0000505Visual impairment1SDHD CL E G H6392252011Mitochondrial complex II deficiency252011C1855008OMIM117436110683602690
HP:0000505HP:0000505Visual impairment1SETBP1 CL E G H26040798ORPHA14721215573611060
HP:0000505HP:0000505Visual impairment1SFXN4 CL E G H119559615578Combined oxidative phosphorylation deficiency 18615578C3810001OMIM148916088615564
HP:0000505HP:0000505Visual impairment1SLC45A2 CL E G H5115179435ORPHA116112416472606202
HP:0000505HP:0000505Visual impairment1SLC45A2 CL E G H51151606574Oculocutaneous albinism type 4606574C1847836OMIM116112416472606202
HP:0000505HP:0000505Visual impairment1SLC4A11 CL E G H839591490Congenital ichtyosiform erythrodermaORPHA19525016438610206
HP:0000505HP:0000505Visual impairment1SLC4A11 CL E G H83959613268Corneal dystrophy, Fuchs endothelial, 4613268C2750450OMIM19525016438610206
HP:0000505HP:0000505Visual impairment1SMARCB1 CL E G H6598614608Mental retardation, autosomal dominant 15614608C3553248OMIM111948211103601607
HP:0000505HP:0000505Visual impairment1SMG9 CL E G H56006616920Heart and brain malformation syndrome616920C4310793OMIM122925763613176
HP:0000505HP:0000505Visual impairment1SNRNP200 CL E G H23020610359Retinitis pigmentosa 33610359C1835895OMIM13529930859601664
HP:0000505HP:0000505Visual impairment1SNX10 CL E G H29887667ORPHA1134614974614780
HP:0000505HP:0000505Visual impairment1SOX2 CL E G H66573157Lachiewicz Sibley syndromeORPHA110510511195184429
HP:0000505HP:0000505Visual impairment1SOX3 CL E G H66583157Lachiewicz Sibley syndromeORPHA12821811199313430
HP:0000505HP:0000505Visual impairment1SPG11 CL E G H80208604360Spastic paraplegia 11, autosomal recessive604360C1858479OMIM1293106511226610844
HP:0000505HP:0000505Visual impairment1SUCLA2 CL E G H88031933ORPHA12918911448603921
HP:0000505HP:0000505Visual impairment1SUMF1 CL E G H285362585ORPHA15526520376607939
HP:0000505HP:0000505Visual impairment1SYNJ1 CL E G H8867617389Epileptic encephalopathy, early infantile, 53617389C4479313OMIM12745211503604297
HP:0000505HP:0000505Visual impairment1TBL2 CL E G H26608904Blepharophimosis nasal groove growth retardationORPHA115911586605842
HP:0000505HP:0000505Visual impairment1TCIRG1 CL E G H10312667ORPHA113728911647604592
HP:0000505HP:0000505Visual impairment1TCOF1 CL E G H6949861ORPHA133325011654606847
HP:0000505HP:0000505Visual impairment1TGFBI CL E G H7045608471Lattice corneal dystrophy type 3A608471C1837974OMIM17011911771601692
HP:0000505HP:0000505Visual impairment1TIMM8A CL E G H1678304700Mohr-Tranebjaerg syndrome304700C0796074OMIM12218511817300356
HP:0000505HP:0000505Visual impairment1TMEM216 CL E G H51259608091Joubert syndrome 2608091C1842577OMIM1810925018613277
HP:0000505HP:0000505Visual impairment1TMEM67 CL E G H911471454Common atrioventricular canalC0221215ORPHA117431628396609884
HP:0000505HP:0000505Visual impairment1TNFSF11 CL E G H8600667ORPHA11611711926602642
HP:0000505HP:0000505Visual impairment1TP53RK CL E G H112858617730GALLOWAY-MOWAT SYNDROME 4617730C4540270OMIM152616197608679
HP:0000505HP:0000505Visual impairment1TRAPPC11 CL E G H60684869ORPHA11735125751614138
HP:0000505HP:0000505Visual impairment1TREX1 CL E G H11277192315Vasculopathy, retinal, with cerebral leukodystrophy192315C1860518OMIM17115312269606609
HP:0000505HP:0000505Visual impairment1TSEN2 CL E G H80746612389Pontocerebellar hypoplasia type 2B612389C2676466OMIM1515228422608753
HP:0000505HP:0000505Visual impairment1TSEN34 CL E G H79042612390Pontocerebellar hypoplasia type 2C612390C2676465OMIM1210515506608754
HP:0000505HP:0000505Visual impairment1TSEN54 CL E G H283989277470Pontocerebellar hypoplasia type 2A277470C1848526OMIM12117627561608755
HP:0000505HP:0000505Visual impairment1TSFM CL E G H10102610505Combined oxidative phosphorylation deficiency 3610505C1864840OMIM1710312367604723
HP:0000505HP:0000505Visual impairment1TTR CL E G H7276105210Amyloidogenic transthyretin amyloidosis105210C2751492OMIM115124012405176300
HP:0000505HP:0000505Visual impairment1TUBB4A CL E G H10382612438Leukodystrophy, hypomyelinating, 6612438C2676244OMIM14213920774602662
HP:0000505HP:0000505Visual impairment1TUBGCP4 CL E G H272292518ORPHA167916691609610
HP:0000505HP:0000505Visual impairment1TUBGCP6 CL E G H853782518ORPHA1748418127610053
HP:0000505HP:0000505Visual impairment1TUBGCP6 CL E G H85378251270Microcephaly with chorioretinopathy, autosomal recessive251270C3278481OMIM1748418127610053
HP:0000505HP:0000505Visual impairment1TWIST2 CL E G H117581920Bone dysplasia Azouz typeORPHA198820670607556
HP:0000505HP:0000505Visual impairment1TYR CL E G H729979431ORPHA144522612442606933
HP:0000505HP:0000505Visual impairment1TYR CL E G H729979434ORPHA144522612442606933
HP:0000505HP:0000505Visual impairment1TYR CL E G H7299103470Albinism, ocular, with sensorineural deafness103470C1863198OMIM144522612442606933
HP:0000505HP:0000505Visual impairment1TYR CL E G H7299606952Oculocutaneous albinism type 1B606952C1847024OMIM144522612442606933
HP:0000505HP:0000505Visual impairment1VPS13B CL E G H157680216550Cohen syndrome216550C0265223OMIM121316062183607817
HP:0000505HP:0000505Visual impairment1WT1 CL E G H7490893ORPHA118463512796607102
HP:0000505HP:0000505Visual impairment1ZFYVE26 CL E G H23503270700Spastic paraplegia 15270700C1849128OMIM14570020761612012
HP:0000505HP:0000505Visual impairment2AAAS CL E G H8086869ORPHA1799913666605378
HP:0000505HP:0000505Visual impairment2ABCA1 CL E G H19205400Tangier disease205400C0039292OMIM124035229600046
HP:0000505HP:0000505Visual impairment2ABCC6 CL E G H368177850Pseudoxanthoma elasticum, forme fruste177850C1867450OMIM138082157603234
HP:0000505HP:0000505Visual impairment2ADAM9 CL E G H8754612775Cone-rod dystrophy 9612775C1423873OMIM111164216602713
HP:0000505HP:0000505Visual impairment2ADNP CL E G H23394615873Helsmoortel-van der aa syndrome615873C4014538OMIM16817915766611386
HP:0000505HP:0000505Visual impairment2AHI1 CL E G H54806608629Joubert syndrome 3608629C1837713OMIM19642221575608894
HP:0000505HP:0000505Visual impairment2AIMP1 CL E G H9255260600Leukodystrophy, hypomyelinating 3260600C1850053OMIM153410648603605
HP:0000505HP:0000505Visual impairment2AIRE CL E G H3263453Meier Rotschild syndromeORPHA1141417360607358
HP:0000505HP:0000505Visual impairment2ALG2 CL E G H85365607906Congenital disorder of glycosylation type 1I607906C1842836OMIM1515323159607905
HP:0000505HP:0000505Visual impairment2AMACR CL E G H23600614307Alpha-methylacyl-CoA racemase deficiency614307C3280428OMIM114147451604489
HP:0000505HP:0000505Visual impairment2ANTXR1 CL E G H841682067ORPHA1142421014606410
HP:0000505HP:0000505Visual impairment2AP3B1 CL E G H8546608233Hermansky Pudlak syndrome 2608233C1842362OMIM135238566603401
HP:0000505HP:0000505Visual impairment2AP3D1 CL E G H8943284804ORPHA1490568607246
HP:0000505HP:0000505Visual impairment2ARID1A CL E G H8289614607Mental retardation, autosomal dominant 14614607C3553247OMIM13617511110603024
HP:0000505HP:0000505Visual impairment2ARID1B CL E G H57492135900Coffin-Siris syndrome 1135900C3281201OMIM118857518040614556
HP:0000505HP:0000505Visual impairment2ARNT2 CL E G H99153157Lachiewicz Sibley syndromeORPHA164916876606036
HP:0000505HP:0000505Visual impairment2ARX CL E G H170302300004Proud Levine Carpenter syndrome300004C0796124OMIM19846618060300382
HP:0000505HP:0000505Visual impairment2B3GALNT2 CL E G H148789588ORPHA11622128596610194
HP:0000505HP:0000505Visual impairment2BAZ1B CL E G H9031904Blepharophimosis nasal groove growth retardationORPHA15187961605681
HP:0000505HP:0000505Visual impairment2BDNF CL E G H627893ORPHA135431033113505
HP:0000505HP:0000505Visual impairment2BEST1 CL E G H7439153700Vitelliform macular dystrophy type 2153700C0339510OMIM131935412703607854
HP:0000505HP:0000505Visual impairment2BLOC1S3 CL E G H388552614077Hermansky-Pudlak syndrome 8614077C3888026OMIM142920914609762
HP:0000505HP:0000505Visual impairment2C12orf65 CL E G H91574613559Combined oxidative phosphorylation deficiency 7613559C3150801OMIM11111426784613541
HP:0000505HP:0000505Visual impairment2CA2 CL E G H760259730Osteopetrosis with renal tubular acidosis259730C0345407OMIM131761373611492
HP:0000505HP:0000505Visual impairment2CABP4 CL E G H57010610427Congenital stationary night blindness, type 2B610427C1864877OMIM1131941386608965
HP:0000505HP:0000505Visual impairment2CACNA1F CL E G H778300071Congenital stationary night blindness, type 2A300071C1848172OMIM11854081393300110
HP:0000505HP:0000505Visual impairment2CACNA2D4 CL E G H93589610478Retinal cone dystrophy 4610478C1864849OMIM1939120202608171
HP:0000505HP:0000505Visual impairment2CAMK2B CL E G H816617799MENTAL RETARDATION, AUTOSOMAL DOMINANT 54617799C4540484OMIM111491461607707
HP:0000505HP:0000505Visual impairment2CARS2 CL E G H79587616672Combined oxidative phosphorylation deficiency 27616672C4225251OMIM1436025695612800
HP:0000505HP:0000505Visual impairment2CASK CL E G H8573163937ORPHA11194461497300172
HP:0000505HP:0000505Visual impairment2CC2D2A CL E G H575451454Common atrioventricular canalC0221215ORPHA19658429253612013
HP:0000505HP:0000505Visual impairment2CEP290 CL E G H80184611755Leber congenital amaurosis 10611755C1857821OMIM131088429021610142
HP:0000505HP:0000505Visual impairment2CEP290 CL E G H80184610189Senior-Loken syndrome 6610189C1857779OMIM131088429021610142
HP:0000505HP:0000505Visual impairment2CKAP2L CL E G H150468272440Filippi syndrome272440C0795940OMIM174226877616174
HP:0000505HP:0000505Visual impairment2CLCN7 CL E G H1186667ORPHA11002682025602727
HP:0000505HP:0000505Visual impairment2CLCN7 CL E G H1186611490Osteopetrosis autosomal recessive 4611490C1969106OMIM11002682025602727
HP:0000505HP:0000505Visual impairment2CLIP2 CL E G H7461904Blepharophimosis nasal groove growth retardationORPHA111742586603432
HP:0000505HP:0000505Visual impairment2CLRN1 CL E G H7401614180Retinitis pigmentosa 61614180C3280041OMIM13917512605606397
HP:0000505HP:0000505Visual impairment2CNGB3 CL E G H547141871Dionisi Vici Sabetta Gambarara syndromeORPHA11264102153605080
HP:0000505HP:0000505Visual impairment2CNNM4 CL E G H265041873Diphallus rachischisis imperforate anusORPHA124200105607805
HP:0000505HP:0000505Visual impairment2CNTNAP1 CL E G H8506618186Congenital hypomyelinating neuropathy 3618186OMIM121758011602346
HP:0000505HP:0000505Visual impairment2COL17A1 CL E G H1308122400Epithelial recurrent erosion dystrophy122400C1852551OMIM11142592194113811
HP:0000505HP:0000505Visual impairment2COQ7 CL E G H10229616733Coenzyme Q10 deficiency, primary, 8616733C4225226OMIM15492244601683
HP:0000505HP:0000505Visual impairment2CRB1 CL E G H23418613835Leber congenital amaurosis 8613835C3151202OMIM13475442343604210
HP:0000505HP:0000505Visual impairment2CRX CL E G H1406613829Leber congenital amaurosis 7613829C3151192OMIM11072982383602225
HP:0000505HP:0000505Visual impairment2EARS2 CL E G H124454614924Combined oxidative phosphorylation deficiency 12614924C3554079OMIM13017929419612799
HP:0000505HP:0000505Visual impairment2EFEMP1 CL E G H2202126600Doyne honeycomb retinal dystrophy126600C1832174OMIM191103218601548
HP:0000505HP:0000505Visual impairment2ELN CL E G H2006904Blepharophimosis nasal groove growth retardationORPHA11275233327130160
HP:0000505HP:0000505Visual impairment2ERCC1 CL E G H20671466ORPHA18533433126380
HP:0000505HP:0000505Visual impairment2ERCC2 CL E G H20681466ORPHA11082273434126340
HP:0000505HP:0000505Visual impairment2ERCC4 CL E G H2072610965XFE progeroid syndrome610965C1970416OMIM1723483436133520
HP:0000505HP:0000505Visual impairment2ERCC5 CL E G H20731466ORPHA1592633437133530
HP:0000505HP:0000505Visual impairment2ERCC6 CL E G H20741466ORPHA11404993438609413
HP:0000505HP:0000505Visual impairment2EXOSC8 CL E G H11340616081Pontocerebellar hypoplasia, type 1c616081C4015160OMIM136017035606019
HP:0000505HP:0000505Visual impairment2FAS CL E G H3553437ORPHA114216911920134637
HP:0000505HP:0000505Visual impairment2FDXR CL E G H2232617717AUDITORY NEUROPATHY AND OPTIC ATROPHY617717C4521678OMIM119453642103270
HP:0000505HP:0000505Visual impairment2FGFR1 CL E G H22603157Lachiewicz Sibley syndromeORPHA12653883688136350
HP:0000505HP:0000505Visual impairment2FGFR2 CL E G H2263123500Crouzon syndrome123500C0010273OMIM11593363689176943
HP:0000505HP:0000505Visual impairment2FH CL E G H2271606812Fumarase deficiency606812C0342770OMIM12168903700136850
HP:0000505HP:0000505Visual impairment2FKRP CL E G H79147588ORPHA114140217997606596
HP:0000505HP:0000505Visual impairment2FKTN CL E G H2218588ORPHA1594503622607440
HP:0000505HP:0000505Visual impairment2FOXE3 CL E G H230188632ORPHA131863808601094
HP:0000505HP:0000505Visual impairment2FSCN2 CL E G H25794607921Retinitis pigmentosa 30607921C1842816OMIM1151673960607643
HP:0000505HP:0000505Visual impairment2GDF3 CL E G H9573613703Microphthalmia, isolated, with coloboma 6613703C3150968OMIM16664218606522
HP:0000505HP:0000505Visual impairment2GDF6 CL E G H392255613703Microphthalmia, isolated, with coloboma 6613703C3150968OMIM1211654221601147
HP:0000505HP:0000505Visual impairment2GJA1 CL E G H26972710Hm syndromeORPHA11091414274121014
HP:0000505HP:0000505Visual impairment2GLRX5 CL E G H51218401866ORPHA164720134609588
HP:0000505HP:0000505Visual impairment2GLRX5 CL E G H51218616859Spasticity, childhood-onset, with hyperglycinemia616859C4225178OMIM164720134609588
HP:0000505HP:0000505Visual impairment2GMPPA CL E G H29926869ORPHA1127422923615495
HP:0000505HP:0000505Visual impairment2GMPPB CL E G H29925588ORPHA14915122932615320
HP:0000505HP:0000505Visual impairment2GNAT2 CL E G H2780613856Achromatopsia 4613856C1841721OMIM116914394139340
HP:0000505HP:0000505Visual impairment2GNAT2 CL E G H27801871Dionisi Vici Sabetta Gambarara syndromeORPHA116914394139340
HP:0000505HP:0000505Visual impairment2GPR143 CL E G H4935300500Ocular albinism, type I300500C0342684OMIM118126120145300808
HP:0000505HP:0000505Visual impairment2GRN CL E G H2896614706Ceroid lipofuscinosis, neuronal, 11614706C3539123OMIM12312684601138945
HP:0000505HP:0000505Visual impairment2GTF2I CL E G H2969904Blepharophimosis nasal groove growth retardationORPHA111574659601679
HP:0000505HP:0000505Visual impairment2GTF2IRD1 CL E G H9569904Blepharophimosis nasal groove growth retardationORPHA162064661604318
HP:0000505HP:0000505Visual impairment2GTPBP2 CL E G H54676617988JABERI-ELAHI SYNDROME617988CN244943OMIM15214670607434
HP:0000505HP:0000505Visual impairment2GUCA1A CL E G H29781871Dionisi Vici Sabetta Gambarara syndromeORPHA1231204678600364
HP:0000505HP:0000505Visual impairment2GUCA1B CL E G H2979613827Retinitis pigmentosa 48613827C3151190OMIM171074679602275
HP:0000505HP:0000505Visual impairment2HARS CL E G H3035614504Usher syndrome, type 3B614504C3281066OMIM1134816142810
HP:0000505HP:0000505Visual impairment2HESX1 CL E G H88203157Lachiewicz Sibley syndromeORPHA127464877601802
HP:0000505HP:0000505Visual impairment2HPS3 CL E G H84343614072Hermansky-Pudlak syndrome 3614072C3888001OMIM11721415597606118
HP:0000505HP:0000505Visual impairment2HSD17B4 CL E G H3295261515Bifunctional peroxisomal enzyme deficiency261515C0342870OMIM11013055213601860
HP:0000505HP:0000505Visual impairment2HSPG2 CL E G H3339800ORPHA1678625273142461
HP:0000505HP:0000505Visual impairment2IBA57 CL E G H200205615330Multiple mitochondrial dysfunctions syndrome 3615330C3809165OMIM12311327302615316
HP:0000505HP:0000505Visual impairment2IGBP1 CL E G H3476300472Corpus callosum, agenesis of, with mental retardation, ocular coloboma, and micrognathia300472C1845446OMIM121425461300139
HP:0000505HP:0000505Visual impairment2IKBKG CL E G H8517464Achromatopsia incomplete X-linkedCN036572ORPHA11512955961300248
HP:0000505HP:0000505Visual impairment2IMPDH1 CL E G H3614613837Leber congenital amaurosis 11613837C1840284OMIM1241986052146690
HP:0000505HP:0000505Visual impairment2INPP5E CL E G H566231454Common atrioventricular canalC0221215ORPHA15432521474613037
HP:0000505HP:0000505Visual impairment2ISCA2 CL E G H122961616370Multiple mitochondrial dysfunctions syndrome 4616370C4225348OMIM132919857615317
HP:0000505HP:0000505Visual impairment2ITPR1 CL E G H3708206700Gillespie syndrome206700C0431401OMIM1955016180147265
HP:0000505HP:0000505Visual impairment2LAMP2 CL E G H3920300257Danon disease300257C0878677OMIM11035356501309060
HP:0000505HP:0000505Visual impairment2LARGE1 CL E G H9215588ORPHA1284066511603590
HP:0000505HP:0000505Visual impairment2LCA5 CL E G H167691604537Leber congenital amaurosis 5604537C1858301OMIM14924631923611408
HP:0000505HP:0000505Visual impairment2LIMK1 CL E G H3984904Blepharophimosis nasal groove growth retardationORPHA171936613601329
HP:0000505HP:0000505Visual impairment2LRPAP1 CL E G H4043615431Myopia 23, autosomal recessive615431C3809482OMIM151186701104225
HP:0000505HP:0000505Visual impairment2LYST CL E G H1130214500Chédiak-Higashi syndrome214500C0007965OMIM11028071968606897
HP:0000505HP:0000505Visual impairment2MBD5 CL E G H55777156200Mental retardation, autosomal dominant 1156200C1969562OMIM19166420444611472
HP:0000505HP:0000505Visual impairment2MC1R CL E G H415779432ORPHA11093326929155555
HP:0000505HP:0000505Visual impairment2MCOLN1 CL E G H57192252650Mucolipidosis type IV252650C0238286OMIM13622813356605248
HP:0000505HP:0000505Visual impairment2MECR CL E G H51102617282Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities617282C4310634OMIM163219691608205
HP:0000505HP:0000505Visual impairment2MFF CL E G H56947617086Encephalopathy due to defective mitochondrial and peroxisomal fission 2617086C4310726OMIM146424858614785
HP:0000505HP:0000505Visual impairment2MICOS13 CL E G H12598867047ORPHA11833702616658
HP:0000505HP:0000505Visual impairment2MITF CL E G H4286103470Albinism, ocular, with sensorineural deafness103470C1863198OMIM1612407105156845
HP:0000505HP:0000505Visual impairment2MMACHC CL E G H25974277400Methylmalonic acidemia with homocystinuria277400C1848561OMIM19527424525609831
HP:0000505HP:0000505Visual impairment2NOTCH3 CL E G H4854136ORPHA13795917883600276
HP:0000505HP:0000505Visual impairment2NRL CL E G H4901613750Retinitis pigmentosa 27613750C1834329OMIM1251338002162080
HP:0000505HP:0000505Visual impairment2NTRK2 CL E G H4915617830EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 58617830CN757795OMIM113708032600456
HP:0000505HP:0000505Visual impairment2NUS1 CL E G H116150617082CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iaa617082C4310727OMIM1225721042610463
HP:0000505HP:0000505Visual impairment2OCA2 CL E G H494879432ORPHA13165388101611409
HP:0000505HP:0000505Visual impairment2OCRL CL E G H4952309000Lowe syndrome309000C0028860OMIM12643428108300535
HP:0000505HP:0000505Visual impairment2OPA1 CL E G H49761215Cerebro reno digital syndromeORPHA13944418140605290
HP:0000505HP:0000505Visual impairment2OPA3 CL E G H8020767047ORPHA1153188142606580
HP:0000505HP:0000505Visual impairment2OPA3 CL E G H802072585013-Methylglutaconic aciduria type 3258501C0574084OMIM1153188142606580
HP:0000505HP:0000505Visual impairment2OPN1LW CL E G H5956303700Cone monochromatism303700C0339537OMIM1632509936300822
HP:0000505HP:0000505Visual impairment2OPN1MW CL E G H2652303700Cone monochromatism303700C0339537OMIM1212404206300821
HP:0000505HP:0000505Visual impairment2OSGEP CL E G H55644617729GALLOWAY-MOWAT SYNDROME 3617729C4540266OMIM1174618028610107
HP:0000505HP:0000505Visual impairment2OSTM1 CL E G H28962259720Osteopetrosis, autosomal recessive 5259720C1968603OMIM1912921652607649
HP:0000505HP:0000505Visual impairment2OTX2 CL E G H50153157Lachiewicz Sibley syndromeORPHA178988522600037
HP:0000505HP:0000505Visual impairment2PAX2 CL E G H50761475Congenital bronchobiliary fistulaORPHA198938616167409
HP:0000505HP:0000505Visual impairment2PAX6 CL E G H5080893ORPHA15714968620607108
HP:0000505HP:0000505Visual impairment2PAX6 CL E G H5080136520Foveal hypoplasia and presenile cataract syndrome136520C3805604OMIM15714968620607108
HP:0000505HP:0000505Visual impairment2PAX6 CL E G H5080165550Optic nerve hypoplasia, bilateral165550C1833797OMIM15714968620607108
HP:0000505HP:0000505Visual impairment2PCARE CL E G H388939613428Retinitis pigmentosa 54613428C3150691OMIM15341834383613425
HP:0000505HP:0000505Visual impairment2PDE6C CL E G H5146613093Cone dystrophy 4613093C2751308OMIM1582208787600827
HP:0000505HP:0000505Visual impairment2PDE6C CL E G H51461871Dionisi Vici Sabetta Gambarara syndromeORPHA1582208787600827
HP:0000505HP:0000505Visual impairment2PEPD CL E G H5184742Aortic dissection lentiginosisORPHA1311298840613230
HP:0000505HP:0000505Visual impairment2PEX1 CL E G H5189912ORPHA11404898850602136
HP:0000505HP:0000505Visual impairment2PEX1 CL E G H518944MYBPC1-related conditionORPHA11404898850602136
HP:0000505HP:0000505Visual impairment2PEX10 CL E G H5192912ORPHA1323478851602859
HP:0000505HP:0000505Visual impairment2PEX10 CL E G H519244MYBPC1-related conditionORPHA1323478851602859
HP:0000505HP:0000505Visual impairment2PEX10 CL E G H5192614871Peroxisome biogenesis disorder 6B614871C3553948OMIM1323478851602859
HP:0000505HP:0000505Visual impairment2PEX11B CL E G H8799912ORPHA182478853603867
HP:0000505HP:0000505Visual impairment2PEX11B CL E G H879944MYBPC1-related conditionORPHA182478853603867
HP:0000505HP:0000505Visual impairment2PEX12 CL E G H5193912ORPHA1371818854601758
HP:0000505HP:0000505Visual impairment2PEX12 CL E G H519344MYBPC1-related conditionORPHA1371818854601758
HP:0000505HP:0000505Visual impairment2PEX13 CL E G H5194912ORPHA1101968855601789
HP:0000505HP:0000505Visual impairment2PEX13 CL E G H519444MYBPC1-related conditionORPHA1101968855601789
HP:0000505HP:0000505Visual impairment2PEX14 CL E G H5195912ORPHA151768856601791
HP:0000505HP:0000505Visual impairment2PEX14 CL E G H519544MYBPC1-related conditionORPHA151768856601791
HP:0000505HP:0000505Visual impairment2PEX16 CL E G H9409912ORPHA1151498857603360
HP:0000505HP:0000505Visual impairment2PEX16 CL E G H940944MYBPC1-related conditionORPHA1151498857603360
HP:0000505HP:0000505Visual impairment2PEX16 CL E G H9409614877Peroxisome biogenesis disorder 8B614877C3553960OMIM1151498857603360
HP:0000505HP:0000505Visual impairment2PEX19 CL E G H5824912ORPHA141339713600279
HP:0000505HP:0000505Visual impairment2PEX19 CL E G H582444MYBPC1-related conditionORPHA141339713600279
HP:0000505HP:0000505Visual impairment2PEX2 CL E G H5828912ORPHA1182089717170993
HP:0000505HP:0000505Visual impairment2PEX2 CL E G H582844MYBPC1-related conditionORPHA1182089717170993
HP:0000505HP:0000505Visual impairment2PEX2 CL E G H5828614867Peroxisome biogenesis disorder 5B614867C3542026OMIM1182089717170993
HP:0000505HP:0000505Visual impairment2PEX26 CL E G H55670912ORPHA12727722965608666
HP:0000505HP:0000505Visual impairment2PEX26 CL E G H5567044MYBPC1-related conditionORPHA12727722965608666
HP:0000505HP:0000505Visual impairment2PEX26 CL E G H55670614873Peroxisome biogenesis disorder 7B614873C3553951OMIM12727722965608666
HP:0000505HP:0000505Visual impairment2PEX3 CL E G H8504912ORPHA1101168858603164
HP:0000505HP:0000505Visual impairment2PEX3 CL E G H850444MYBPC1-related conditionORPHA1101168858603164
HP:0000505HP:0000505Visual impairment2PEX5 CL E G H5830912ORPHA1142809719600414
HP:0000505HP:0000505Visual impairment2PEX5 CL E G H583044MYBPC1-related conditionORPHA1142809719600414
HP:0000505HP:0000505Visual impairment2PEX6 CL E G H5190912ORPHA11093758859601498
HP:0000505HP:0000505Visual impairment2PEX6 CL E G H519044MYBPC1-related conditionORPHA11093758859601498
HP:0000505HP:0000505Visual impairment2PEX6 CL E G H5190614863Peroxisome biogenesis disorder 4B614863C3553937OMIM11093758859601498
HP:0000505HP:0000505Visual impairment2PHF6 CL E G H84295301900Borjeson-Forssman-Lehmann syndrome301900C0265339OMIM12923518145300414
HP:0000505HP:0000505Visual impairment2PHOX2A CL E G H401602078Fibrosis of extraocular muscles, congenital, 2602078C1865915OMIM1518691602753
HP:0000505HP:0000505Visual impairment2PIEZO2 CL E G H638951154Cataract mental retardation hypogonadismORPHA13232926270613629
HP:0000505HP:0000505Visual impairment2PIGT CL E G H51604615398Multiple congenital anomalies-hypotonia-seizures syndrome 3615398C3809356OMIM1127214938610272
HP:0000505HP:0000505Visual impairment2PITX3 CL E G H530988632ORPHA115299006602669
HP:0000505HP:0000505Visual impairment2PLA2G6 CL E G H839835069ORPHA11792899039603604
HP:0000505HP:0000505Visual impairment2PLK4 CL E G H107332518ORPHA169411397605031
HP:0000505HP:0000505Visual impairment2PLK4 CL E G H10733616171Microcephaly and chorioretinopathy, autosomal recessive, 2616171C4015388OMIM169411397605031
HP:0000505HP:0000505Visual impairment2PLOD1 CL E G H53511900ORPHA1424409081153454
HP:0000505HP:0000505Visual impairment2POLA1 CL E G H5422301220Pigmentary disorder, reticulate, with systemic manifestations, X-linked301220C1845050OMIM121829173312040
HP:0000505HP:0000505Visual impairment2POLR1C CL E G H9533861ORPHA1219220194610060
HP:0000505HP:0000505Visual impairment2POLR1D CL E G H51082861ORPHA1264820422613715
HP:0000505HP:0000505Visual impairment2POMGNT1 CL E G H55624588ORPHA18946119139606822
HP:0000505HP:0000505Visual impairment2POMT1 CL E G H10585588ORPHA1965089202607423
HP:0000505HP:0000505Visual impairment2POMT2 CL E G H29954588ORPHA17550219743607439
HP:0000505HP:0000505Visual impairment2PRDX1 CL E G H5052277400Methylmalonic acidemia with homocystinuria277400C1848561OMIM13229352176763
HP:0000505HP:0000505Visual impairment2PRNP CL E G H5621123400Jakob-Creutzfeldt disease123400C0022336OMIM11091269449176640
HP:0000505HP:0000505Visual impairment2PROKR2 CL E G H1286743157Lachiewicz Sibley syndromeORPHA1839815836607123
HP:0000505HP:0000505Visual impairment2PRPS1 CL E G H56311187Cerebellar agenesisORPHA1322599462311850
HP:0000505HP:0000505Visual impairment2PTPN22 CL E G H261913437ORPHA114289652600716
HP:0000505HP:0000505Visual impairment2RAB11B CL E G H9230617807NEURODEVELOPMENTAL DISORDER WITH ATAXIC GAIT, ABSENT SPEECH, AND DECREASED CORTICAL WHITE MATTER617807C4540498OMIM12149761604198
HP:0000505HP:0000505Visual impairment2RFC2 CL E G H5982904Blepharophimosis nasal groove growth retardationORPHA141739970600404
HP:0000505HP:0000505Visual impairment2RFT1 CL E G H91869244310ORPHA11317930220611908
HP:0000505HP:0000505Visual impairment2RGS9 CL E G H878775374ORPHA1310410004604067
HP:0000505HP:0000505Visual impairment2RGS9BP CL E G H38853175374ORPHA173830304607814
HP:0000505HP:0000505Visual impairment2RIMS1 CL E G H22999603649Cone-rod dystrophy 7603649C1863634OMIM11230217282606629
HP:0000505HP:0000505Visual impairment2RMRP CL E G H6023175ORPHA112341110031157660
HP:0000505HP:0000505Visual impairment2RPE65 CL E G H6121613794Retinitis pigmentosa 20613794C3151086OMIM120832710294180069
HP:0000505HP:0000505Visual impairment2RPGR CL E G H6103304020Cone-rod dystrophy, X-linked 1304020C1844776OMIM124566210295312610
HP:0000505HP:0000505Visual impairment2RPGRIP1L CL E G H233221454Common atrioventricular canalC0221215ORPHA15143229168610937
HP:0000505HP:0000505Visual impairment2SAG CL E G H6295613758Retinitis pigmentosa 47613758C3151061OMIM11613210521181031
HP:0000505HP:0000505Visual impairment2SALL4 CL E G H57167959ORPHA15714815924607343
HP:0000505HP:0000505Visual impairment2SDHA CL E G H6389252011Mitochondrial complex II deficiency252011C1855008OMIM191127910680600857
HP:0000505HP:0000505Visual impairment2SDHAF1 CL E G H644096252011Mitochondrial complex II deficiency252011C1855008OMIM164033867612848
HP:0000505HP:0000505Visual impairment2SDHD CL E G H6392252011Mitochondrial complex II deficiency252011C1855008OMIM117436110683602690
HP:0000505HP:0000505Visual impairment2SETBP1 CL E G H26040798ORPHA14721215573611060
HP:0000505HP:0000505Visual impairment2SFXN4 CL E G H119559615578Combined oxidative phosphorylation deficiency 18615578C3810001OMIM148916088615564
HP:0000505HP:0000505Visual impairment2SLC45A2 CL E G H5115179435ORPHA116112416472606202
HP:0000505HP:0000505Visual impairment2SLC45A2 CL E G H51151606574Oculocutaneous albinism type 4606574C1847836OMIM116112416472606202
HP:0000505HP:0000505Visual impairment2SLC4A11 CL E G H839591490Congenital ichtyosiform erythrodermaORPHA19525016438610206
HP:0000505HP:0000505Visual impairment2SLC4A11 CL E G H83959613268Corneal dystrophy, Fuchs endothelial, 4613268C2750450OMIM19525016438610206
HP:0000505HP:0000505Visual impairment2SMARCB1 CL E G H6598614608Mental retardation, autosomal dominant 15614608C3553248OMIM111948211103601607
HP:0000505HP:0000505Visual impairment2SMG9 CL E G H56006616920Heart and brain malformation syndrome616920C4310793OMIM122925763613176
HP:0000505HP:0000505Visual impairment2SNRNP200 CL E G H23020610359Retinitis pigmentosa 33610359C1835895OMIM13529930859601664
HP:0000505HP:0000505Visual impairment2SNX10 CL E G H29887667ORPHA1134614974614780
HP:0000505HP:0000505Visual impairment2SOX2 CL E G H66573157Lachiewicz Sibley syndromeORPHA110510511195184429
HP:0000505HP:0000505Visual impairment2SOX3 CL E G H66583157Lachiewicz Sibley syndromeORPHA12821811199313430
HP:0000505HP:0000505Visual impairment2SPG11 CL E G H80208604360Spastic paraplegia 11, autosomal recessive604360C1858479OMIM1293106511226610844
HP:0000505HP:0000505Visual impairment2SUCLA2 CL E G H88031933ORPHA12918911448603921
HP:0000505HP:0000505Visual impairment2SUMF1 CL E G H285362585ORPHA15526520376607939
HP:0000505HP:0000505Visual impairment2SYNJ1 CL E G H8867617389Epileptic encephalopathy, early infantile, 53617389C4479313OMIM12745211503604297
HP:0000505HP:0000505Visual impairment2TBL2 CL E G H26608904Blepharophimosis nasal groove growth retardationORPHA115911586605842
HP:0000505HP:0000505Visual impairment2TCIRG1 CL E G H10312667ORPHA113728911647604592
HP:0000505HP:0000505Visual impairment2TCOF1 CL E G H6949861ORPHA133325011654606847
HP:0000505HP:0000505Visual impairment2TGFBI CL E G H7045608471Lattice corneal dystrophy type 3A608471C1837974OMIM17011911771601692
HP:0000505HP:0000505Visual impairment2TIMM8A CL E G H1678304700Mohr-Tranebjaerg syndrome304700C0796074OMIM12218511817300356
HP:0000505HP:0000505Visual impairment2TMEM216 CL E G H51259608091Joubert syndrome 2608091C1842577OMIM1810925018613277
HP:0000505HP:0000505Visual impairment2TMEM67 CL E G H911471454Common atrioventricular canalC0221215ORPHA117431628396609884
HP:0000505HP:0000505Visual impairment2TNFSF11 CL E G H8600667ORPHA11611711926602642
HP:0000505HP:0000505Visual impairment2TP53RK CL E G H112858617730GALLOWAY-MOWAT SYNDROME 4617730C4540270OMIM152616197608679
HP:0000505HP:0000505Visual impairment2TRAPPC11 CL E G H60684869ORPHA11735125751614138
HP:0000505HP:0000505Visual impairment2TREX1 CL E G H11277192315Vasculopathy, retinal, with cerebral leukodystrophy192315C1860518OMIM17115312269606609
HP:0000505HP:0000505Visual impairment2TSEN2 CL E G H80746612389Pontocerebellar hypoplasia type 2B612389C2676466OMIM1515228422608753
HP:0000505HP:0000505Visual impairment2TSEN34 CL E G H79042612390Pontocerebellar hypoplasia type 2C612390C2676465OMIM1210515506608754
HP:0000505HP:0000505Visual impairment2TSEN54 CL E G H283989277470Pontocerebellar hypoplasia type 2A277470C1848526OMIM12117627561608755
HP:0000505HP:0000505Visual impairment2TSFM CL E G H10102610505Combined oxidative phosphorylation deficiency 3610505C1864840OMIM1710312367604723
HP:0000505HP:0000505Visual impairment2TTR CL E G H7276105210Amyloidogenic transthyretin amyloidosis105210C2751492OMIM115124012405176300
HP:0000505HP:0000505Visual impairment2TUBB4A CL E G H10382612438Leukodystrophy, hypomyelinating, 6612438C2676244OMIM14213920774602662
HP:0000505HP:0000505Visual impairment2TUBGCP4 CL E G H272292518ORPHA167916691609610
HP:0000505HP:0000505Visual impairment2TUBGCP6 CL E G H853782518ORPHA1748418127610053
HP:0000505HP:0000505Visual impairment2TUBGCP6 CL E G H85378251270Microcephaly with chorioretinopathy, autosomal recessive251270C3278481OMIM1748418127610053
HP:0000505HP:0000505Visual impairment2TWIST2 CL E