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 H8086869ORPHA116213666605378
HP:0000505HP:0000505Visual impairment0AAAS CL E G H8086869ORPHA117413666605378
HP:0000505HP:0000505Visual impairment0ABCA1 CL E G H19205400Tangier disease205400C0039292OMIM157629600046
HP:0000505HP:0000505Visual impairment0ABCA1 CL E G H19205400Tangier disease205400C0039292OMIM166429600046
HP:0000505HP:0000505Visual impairment0ABCC6 CL E G H368177850Pseudoxanthoma elasticum, forme fruste177850C1867450OMIM191457603234
HP:0000505HP:0000505Visual impairment0ABCC6 CL E G H368177850Pseudoxanthoma elasticum, forme fruste177850C1867450OMIM1113757603234
HP:0000505HP:0000505Visual impairment0ADAM9 CL E G H8754612775Cone-rod dystrophy 9612775C1423873OMIM1257216602713
HP:0000505HP:0000505Visual impairment0ADAM9 CL E G H8754612775Cone-rod dystrophy 9612775C1423873OMIM1315216602713
HP:0000505HP:0000505Visual impairment0ADNP CL E G H23394615873Helsmoortel-van der aa syndrome615873C4014538OMIM125115766611386
HP:0000505HP:0000505Visual impairment0ADNP CL E G H23394615873Helsmoortel-van der aa syndrome615873C4014538OMIM126815766611386
HP:0000505HP:0000505Visual impairment0AHI1 CL E G H54806608629Joubert syndrome 3608629C1837713OMIM165021575608894
HP:0000505HP:0000505Visual impairment0AHI1 CL E G H54806608629Joubert syndrome 3608629C1837713OMIM182721575608894
HP:0000505HP:0000505Visual impairment0AIMP1 CL E G H9255260600Leukodystrophy, hypomyelinating 3260600C1850053OMIM15210648603605
HP:0000505HP:0000505Visual impairment0AIMP1 CL E G H9255260600Leukodystrophy, hypomyelinating 3260600C1850053OMIM16610648603605
HP:0000505HP:0000505Visual impairment0AIRE CL E G H3263453Meier Rotschild syndromeORPHA1641360607358
HP:0000505HP:0000505Visual impairment0AIRE CL E G H3263453Meier Rotschild syndromeORPHA1718360607358
HP:0000505HP:0000505Visual impairment0ALG2 CL E G H85365607906Congenital disorder of glycosylation type 1I607906C1842836OMIM119323159607905
HP:0000505HP:0000505Visual impairment0ALG2 CL E G H85365607906Congenital disorder of glycosylation type 1I607906C1842836OMIM124123159607905
HP:0000505HP:0000505Visual impairment0AMACR CL E G H23600614307Alpha-methylacyl-CoA racemase deficiency614307C3280428OMIM1164451604489
HP:0000505HP:0000505Visual impairment0AMACR CL E G H23600614307Alpha-methylacyl-CoA racemase deficiency614307C3280428OMIM1251451604489
HP:0000505HP:0000505Visual impairment0ANTXR1 CL E G H841682067ORPHA18321014606410
HP:0000505HP:0000505Visual impairment0ANTXR1 CL E G H841682067ORPHA18421014606410
HP:0000505HP:0000505Visual impairment0AP3B1 CL E G H8546608233Hermansky Pudlak syndrome 2608233C1842362OMIM1356566603401
HP:0000505HP:0000505Visual impairment0AP3B1 CL E G H8546608233Hermansky Pudlak syndrome 2608233C1842362OMIM1467566603401
HP:0000505HP:0000505Visual impairment0AP3D1 CL E G H8943284804ORPHA1226568607246
HP:0000505HP:0000505Visual impairment0AP3D1 CL E G H8943284804ORPHA1394568607246
HP:0000505HP:0000505Visual impairment0ARID1A CL E G H8289614607Mental retardation, autosomal dominant 14614607C3553247OMIM138311110603024
HP:0000505HP:0000505Visual impairment0ARID1A CL E G H8289614607Mental retardation, autosomal dominant 14614607C3553247OMIM144211110603024
HP:0000505HP:0000505Visual impairment0ARID1B CL E G H57492135900Coffin-Siris syndrome 1135900C3281201OMIM186618040614556
HP:0000505HP:0000505Visual impairment0ARID1B CL E G H57492135900Coffin-Siris syndrome 1135900C3281201OMIM195818040614556
HP:0000505HP:0000505Visual impairment0ARNT2 CL E G H99153157Lachiewicz Sibley syndromeORPHA16216876606036
HP:0000505HP:0000505Visual impairment0ARNT2 CL E G H99153157Lachiewicz Sibley syndromeORPHA18416876606036
HP:0000505HP:0000505Visual impairment0ARX CL E G H170302300004Proud Levine Carpenter syndrome300004C0796124OMIM156518060300382
HP:0000505HP:0000505Visual impairment0ARX CL E G H170302300004Proud Levine Carpenter syndrome300004C0796124OMIM162418060300382
HP:0000505HP:0000505Visual impairment0B3GALNT2 CL E G H148789588ORPHA134328596610194
HP:0000505HP:0000505Visual impairment0B3GALNT2 CL E G H148789588ORPHA141128596610194
HP:0000505HP:0000505Visual impairment0BAZ1B CL E G H9031904Blepharophimosis nasal groove growth retardationORPHA1191961605681
HP:0000505HP:0000505Visual impairment0BAZ1B CL E G H9031904Blepharophimosis nasal groove growth retardationORPHA1192961605681
HP:0000505HP:0000505Visual impairment0BDNF CL E G H627893ORPHA1561033113505
HP:0000505HP:0000505Visual impairment0BEST1 CL E G H7439153700Vitelliform macular dystrophy type 2153700C0339510OMIM149912703607854
HP:0000505HP:0000505Visual impairment0BEST1 CL E G H7439153700Vitelliform macular dystrophy type 2153700C0339510OMIM159512703607854
HP:0000505HP:0000505Visual impairment0BLOC1S3 CL E G H388552614077Hermansky-Pudlak syndrome 8614077C3888026OMIM13520914609762
HP:0000505HP:0000505Visual impairment0BLOC1S3 CL E G H388552614077Hermansky-Pudlak syndrome 8614077C3888026OMIM16820914609762
HP:0000505HP:0000505Visual impairment0C12orf65 CL E G H91574613559Combined oxidative phosphorylation deficiency 7613559C3150801OMIM126784613541
HP:0000505HP:0000505Visual impairment0CA2 CL E G H760259730Osteopetrosis with renal tubular acidosis259730C0345407OMIM11041373611492
HP:0000505HP:0000505Visual impairment0CA2 CL E G H760259730Osteopetrosis with renal tubular acidosis259730C0345407OMIM11191373611492
HP:0000505HP:0000505Visual impairment0CABP4 CL E G H57010610427Congenital stationary night blindness, type 2B610427C1864877OMIM12521386608965
HP:0000505HP:0000505Visual impairment0CABP4 CL E G H57010610427Congenital stationary night blindness, type 2B610427C1864877OMIM13121386608965
HP:0000505HP:0000505Visual impairment0CACNA1F CL E G H778300071Congenital stationary night blindness, type 2A300071C1848172OMIM16581393300110
HP:0000505HP:0000505Visual impairment0CACNA1F CL E G H778300071Congenital stationary night blindness, type 2A300071C1848172OMIM18181393300110
HP:0000505HP:0000505Visual impairment0CACNA2D4 CL E G H93589610478Retinal cone dystrophy 4610478C1864849OMIM159320202608171
HP:0000505HP:0000505Visual impairment0CACNA2D4 CL E G H93589610478Retinal cone dystrophy 4610478C1864849OMIM175720202608171
HP:0000505HP:0000505Visual impairment0CAMK2B CL E G H816617799MENTAL RETARDATION, AUTOSOMAL DOMINANT 54617799C4540484OMIM1881461607707
HP:0000505HP:0000505Visual impairment0CAMK2B CL E G H816617799MENTAL RETARDATION, AUTOSOMAL DOMINANT 54617799C4540484OMIM11691461607707
HP:0000505HP:0000505Visual impairment0CARS2 CL E G H79587616672Combined oxidative phosphorylation deficiency 27616672C4225251OMIM153125695612800
HP:0000505HP:0000505Visual impairment0CARS2 CL E G H79587616672Combined oxidative phosphorylation deficiency 27616672C4225251OMIM162525695612800
HP:0000505HP:0000505Visual impairment0CASK CL E G H8573163937ORPHA15831497300172
HP:0000505HP:0000505Visual impairment0CASK CL E G H8573163937ORPHA16331497300172
HP:0000505HP:0000505Visual impairment0CC2D2A CL E G H575451454Common atrioventricular canalC0221215ORPHA188129253612013
HP:0000505HP:0000505Visual impairment0CC2D2A CL E G H575451454Common atrioventricular canalC0221215ORPHA1106429253612013
HP:0000505HP:0000505Visual impairment0CEP290 CL E G H80184611755Leber congenital amaurosis 10611755C1857821OMIM1153529021610142
HP:0000505HP:0000505Visual impairment0CEP290 CL E G H80184611755Leber congenital amaurosis 10611755C1857821OMIM1190229021610142
HP:0000505HP:0000505Visual impairment0CEP290 CL E G H80184610189Senior-Loken syndrome 6610189C1857779OMIM1153529021610142
HP:0000505HP:0000505Visual impairment0CEP290 CL E G H80184610189Senior-Loken syndrome 6610189C1857779OMIM1190229021610142
HP:0000505HP:0000505Visual impairment0CKAP2L CL E G H150468272440Filippi syndrome272440C0795940OMIM17826877616174
HP:0000505HP:0000505Visual impairment0CKAP2L CL E G H150468272440Filippi syndrome272440C0795940OMIM19426877616174
HP:0000505HP:0000505Visual impairment0CLCN7 CL E G H1186667ORPHA13882025602727
HP:0000505HP:0000505Visual impairment0CLCN7 CL E G H1186667ORPHA15492025602727
HP:0000505HP:0000505Visual impairment0CLCN7 CL E G H1186611490Osteopetrosis autosomal recessive 4611490C1969106OMIM13882025602727
HP:0000505HP:0000505Visual impairment0CLCN7 CL E G H1186611490Osteopetrosis autosomal recessive 4611490C1969106OMIM15492025602727
HP:0000505HP:0000505Visual impairment0CLIP2 CL E G H7461904Blepharophimosis nasal groove growth retardationORPHA11762586603432
HP:0000505HP:0000505Visual impairment0CLIP2 CL E G H7461904Blepharophimosis nasal groove growth retardationORPHA11772586603432
HP:0000505HP:0000505Visual impairment0CLRN1 CL E G H7401614180Retinitis pigmentosa 61614180C3280041OMIM124212605606397
HP:0000505HP:0000505Visual impairment0CLRN1 CL E G H7401614180Retinitis pigmentosa 61614180C3280041OMIM127212605606397
HP:0000505HP:0000505Visual impairment0CNGB3 CL E G H547141871Dionisi Vici Sabetta Gambarara syndromeORPHA15902153605080
HP:0000505HP:0000505Visual impairment0CNGB3 CL E G H547141871Dionisi Vici Sabetta Gambarara syndromeORPHA17002153605080
HP:0000505HP:0000505Visual impairment0CNNM4 CL E G H265041873Diphallus rachischisis imperforate anusORPHA1309105607805
HP:0000505HP:0000505Visual impairment0CNNM4 CL E G H265041873Diphallus rachischisis imperforate anusORPHA1387105607805
HP:0000505HP:0000505Visual impairment0CNTNAP1 CL E G H8506618186Congenital hypomyelinating neuropathy 3618186OMIM11588011602346
HP:0000505HP:0000505Visual impairment0CNTNAP1 CL E G H8506618186Congenital hypomyelinating neuropathy 3618186OMIM12168011602346
HP:0000505HP:0000505Visual impairment0COL17A1 CL E G H1308122400Epithelial recurrent erosion dystrophy122400C1852551OMIM13922194113811
HP:0000505HP:0000505Visual impairment0COL17A1 CL E G H1308122400Epithelial recurrent erosion dystrophy122400C1852551OMIM14062194113811
HP:0000505HP:0000505Visual impairment0COQ7 CL E G H10229616733Coenzyme Q10 deficiency, primary, 8616733C4225226OMIM1672244601683
HP:0000505HP:0000505Visual impairment0COQ7 CL E G H10229616733Coenzyme Q10 deficiency, primary, 8616733C4225226OMIM11072244601683
HP:0000505HP:0000505Visual impairment0CRB1 CL E G H23418613835Leber congenital amaurosis 8613835C3151202OMIM18942343604210
HP:0000505HP:0000505Visual impairment0CRB1 CL E G H23418613835Leber congenital amaurosis 8613835C3151202OMIM110852343604210
HP:0000505HP:0000505Visual impairment0CRX CL E G H1406613829Leber congenital amaurosis 7613829C3151192OMIM13612383602225
HP:0000505HP:0000505Visual impairment0CRX CL E G H1406613829Leber congenital amaurosis 7613829C3151192OMIM14192383602225
HP:0000505HP:0000505Visual impairment0EARS2 CL E G H124454614924Combined oxidative phosphorylation deficiency 12614924C3554079OMIM120729419612799
HP:0000505HP:0000505Visual impairment0EARS2 CL E G H124454614924Combined oxidative phosphorylation deficiency 12614924C3554079OMIM123529419612799
HP:0000505HP:0000505Visual impairment0EFEMP1 CL E G H2202126600Doyne honeycomb retinal dystrophy126600C1832174OMIM11773218601548
HP:0000505HP:0000505Visual impairment0EFEMP1 CL E G H2202126600Doyne honeycomb retinal dystrophy126600C1832174OMIM12163218601548
HP:0000505HP:0000505Visual impairment0ELN CL E G H2006904Blepharophimosis nasal groove growth retardationORPHA16573327130160
HP:0000505HP:0000505Visual impairment0ELN CL E G H2006904Blepharophimosis nasal groove growth retardationORPHA17043327130160
HP:0000505HP:0000505Visual impairment0ERCC1 CL E G H20671466ORPHA11063433126380
HP:0000505HP:0000505Visual impairment0ERCC1 CL E G H20671466ORPHA11103433126380
HP:0000505HP:0000505Visual impairment0ERCC2 CL E G H20681466ORPHA13603434126340
HP:0000505HP:0000505Visual impairment0ERCC2 CL E G H20681466ORPHA14793434126340
HP:0000505HP:0000505Visual impairment0ERCC4 CL E G H2072610965XFE progeroid syndrome610965C1970416OMIM14693436133520
HP:0000505HP:0000505Visual impairment0ERCC4 CL E G H2072610965XFE progeroid syndrome610965C1970416OMIM15383436133520
HP:0000505HP:0000505Visual impairment0ERCC5 CL E G H20731466ORPHA13613437133530
HP:0000505HP:0000505Visual impairment0ERCC5 CL E G H20731466ORPHA13743437133530
HP:0000505HP:0000505Visual impairment0ERCC6 CL E G H20741466ORPHA18253438609413
HP:0000505HP:0000505Visual impairment0ERCC6 CL E G H20741466ORPHA19463438609413
HP:0000505HP:0000505Visual impairment0EXOSC8 CL E G H11340616081Pontocerebellar hypoplasia, type 1c616081C4015160OMIM17717035606019
HP:0000505HP:0000505Visual impairment0EXOSC8 CL E G H11340616081Pontocerebellar hypoplasia, type 1c616081C4015160OMIM17917035606019
HP:0000505HP:0000505Visual impairment0FAS CL E G H3553437ORPHA122711920134637
HP:0000505HP:0000505Visual impairment0FAS CL E G H3553437ORPHA127511920134637
HP:0000505HP:0000505Visual impairment0FDXR CL E G H2232617717AUDITORY NEUROPATHY AND OPTIC ATROPHY617717C4521678OMIM1733642103270
HP:0000505HP:0000505Visual impairment0FDXR CL E G H2232617717AUDITORY NEUROPATHY AND OPTIC ATROPHY617717C4521678OMIM1793642103270
HP:0000505HP:0000505Visual impairment0FGFR1 CL E G H22603157Lachiewicz Sibley syndromeORPHA15303688136350
HP:0000505HP:0000505Visual impairment0FGFR1 CL E G H22603157Lachiewicz Sibley syndromeORPHA15973688136350
HP:0000505HP:0000505Visual impairment0FGFR2 CL E G H2263123500Crouzon syndrome123500C0010273OMIM14663689176943
HP:0000505HP:0000505Visual impairment0FGFR2 CL E G H2263123500Crouzon syndrome123500C0010273OMIM15013689176943
HP:0000505HP:0000505Visual impairment0FH CL E G H2271606812Fumarase deficiency606812C0342770OMIM111363700136850
HP:0000505HP:0000505Visual impairment0FH CL E G H2271606812Fumarase deficiency606812C0342770OMIM112923700136850
HP:0000505HP:0000505Visual impairment0FKRP CL E G H79147588ORPHA157217997606596
HP:0000505HP:0000505Visual impairment0FKRP CL E G H79147588ORPHA167117997606596
HP:0000505HP:0000505Visual impairment0FKTN CL E G H2218588ORPHA15993622607440
HP:0000505HP:0000505Visual impairment0FKTN CL E G H2218588ORPHA16793622607440
HP:0000505HP:0000505Visual impairment0FOXE3 CL E G H230188632ORPHA11523808601094
HP:0000505HP:0000505Visual impairment0FOXE3 CL E G H230188632ORPHA11763808601094
HP:0000505HP:0000505Visual impairment0FSCN2 CL E G H25794607921Retinitis pigmentosa 30607921C1842816OMIM12773960607643
HP:0000505HP:0000505Visual impairment0FSCN2 CL E G H25794607921Retinitis pigmentosa 30607921C1842816OMIM13863960607643
HP:0000505HP:0000505Visual impairment0GDF3 CL E G H9573613703Microphthalmia, isolated, with coloboma 6613703C3150968OMIM1774218606522
HP:0000505HP:0000505Visual impairment0GDF3 CL E G H9573613703Microphthalmia, isolated, with coloboma 6613703C3150968OMIM1824218606522
HP:0000505HP:0000505Visual impairment0GDF6 CL E G H392255613703Microphthalmia, isolated, with coloboma 6613703C3150968OMIM12124221601147
HP:0000505HP:0000505Visual impairment0GDF6 CL E G H392255613703Microphthalmia, isolated, with coloboma 6613703C3150968OMIM12704221601147
HP:0000505HP:0000505Visual impairment0GJA1 CL E G H26972710Hm syndromeORPHA11694274121014
HP:0000505HP:0000505Visual impairment0GJA1 CL E G H26972710Hm syndromeORPHA11914274121014
HP:0000505HP:0000505Visual impairment0GLRX5 CL E G H51218401866ORPHA16020134609588
HP:0000505HP:0000505Visual impairment0GLRX5 CL E G H51218401866ORPHA16820134609588
HP:0000505HP:0000505Visual impairment0GLRX5 CL E G H51218616859Spasticity, childhood-onset, with hyperglycinemia616859C4225178OMIM16020134609588
HP:0000505HP:0000505Visual impairment0GLRX5 CL E G H51218616859Spasticity, childhood-onset, with hyperglycinemia616859C4225178OMIM16820134609588
HP:0000505HP:0000505Visual impairment0GMPPA CL E G H29926869ORPHA19822923615495
HP:0000505HP:0000505Visual impairment0GMPPA CL E G H29926869ORPHA110722923615495
HP:0000505HP:0000505Visual impairment0GMPPB CL E G H29925588ORPHA120322932615320
HP:0000505HP:0000505Visual impairment0GMPPB CL E G H29925588ORPHA123422932615320
HP:0000505HP:0000505Visual impairment0GNAT2 CL E G H2780613856Achromatopsia 4613856C1841721OMIM11314394139340
HP:0000505HP:0000505Visual impairment0GNAT2 CL E G H2780613856Achromatopsia 4613856C1841721OMIM11584394139340
HP:0000505HP:0000505Visual impairment0GNAT2 CL E G H27801871Dionisi Vici Sabetta Gambarara syndromeORPHA11314394139340
HP:0000505HP:0000505Visual impairment0GNAT2 CL E G H27801871Dionisi Vici Sabetta Gambarara syndromeORPHA11584394139340
HP:0000505HP:0000505Visual impairment0GPR143 CL E G H4935300500Ocular albinism, type I300500C0342684OMIM129720145300808
HP:0000505HP:0000505Visual impairment0GPR143 CL E G H4935300500Ocular albinism, type I300500C0342684OMIM137420145300808
HP:0000505HP:0000505Visual impairment0GRN CL E G H2896614706Ceroid lipofuscinosis, neuronal, 11614706C3539123OMIM13024601138945
HP:0000505HP:0000505Visual impairment0GRN CL E G H2896614706Ceroid lipofuscinosis, neuronal, 11614706C3539123OMIM13584601138945
HP:0000505HP:0000505Visual impairment0GTF2I CL E G H2969904Blepharophimosis nasal groove growth retardationORPHA11594659601679
HP:0000505HP:0000505Visual impairment0GTF2I CL E G H2969904Blepharophimosis nasal groove growth retardationORPHA11604659601679
HP:0000505HP:0000505Visual impairment0GTF2IRD1 CL E G H9569904Blepharophimosis nasal groove growth retardationORPHA12114661604318
HP:0000505HP:0000505Visual impairment0GTF2IRD1 CL E G H9569904Blepharophimosis nasal groove growth retardationORPHA12134661604318
HP:0000505HP:0000505Visual impairment0GTPBP2 CL E G H54676617988JABERI-ELAHI SYNDROME617988CN244943OMIM1344670607434
HP:0000505HP:0000505Visual impairment0GTPBP2 CL E G H54676617988JABERI-ELAHI SYNDROME617988CN244943OMIM1504670607434
HP:0000505HP:0000505Visual impairment0GUCA1A CL E G H29781871Dionisi Vici Sabetta Gambarara syndromeORPHA11584678600364
HP:0000505HP:0000505Visual impairment0GUCA1A CL E G H29781871Dionisi Vici Sabetta Gambarara syndromeORPHA11904678600364
HP:0000505HP:0000505Visual impairment0GUCA1B CL E G H2979613827Retinitis pigmentosa 48613827C3151190OMIM11344679602275
HP:0000505HP:0000505Visual impairment0GUCA1B CL E G H2979613827Retinitis pigmentosa 48613827C3151190OMIM11654679602275
HP:0000505HP:0000505Visual impairment0HARS CL E G H3035614504Usher syndrome, type 3B614504C3281066OMIM14816142810
HP:0000505HP:0000505Visual impairment0HESX1 CL E G H88203157Lachiewicz Sibley syndromeORPHA1634877601802
HP:0000505HP:0000505Visual impairment0HESX1 CL E G H88203157Lachiewicz Sibley syndromeORPHA1744877601802
HP:0000505HP:0000505Visual impairment0HPS3 CL E G H84343614072Hermansky-Pudlak syndrome 3614072C3888001OMIM143315597606118
HP:0000505HP:0000505Visual impairment0HPS3 CL E G H84343614072Hermansky-Pudlak syndrome 3614072C3888001OMIM153415597606118
HP:0000505HP:0000505Visual impairment0HSD17B4 CL E G H3295261515Bifunctional peroxisomal enzyme deficiency261515C0342870OMIM15605213601860
HP:0000505HP:0000505Visual impairment0HSD17B4 CL E G H3295261515Bifunctional peroxisomal enzyme deficiency261515C0342870OMIM16395213601860
HP:0000505HP:0000505Visual impairment0HSPG2 CL E G H3339800ORPHA113275273142461
HP:0000505HP:0000505Visual impairment0HSPG2 CL E G H3339800ORPHA116005273142461
HP:0000505HP:0000505Visual impairment0IBA57 CL E G H200205615330Multiple mitochondrial dysfunctions syndrome 3615330C3809165OMIM114027302615316
HP:0000505HP:0000505Visual impairment0IBA57 CL E G H200205615330Multiple mitochondrial dysfunctions syndrome 3615330C3809165OMIM116127302615316
HP:0000505HP:0000505Visual impairment0IGBP1 CL E G H3476300472Corpus callosum, agenesis of, with mental retardation, ocular coloboma, and micrognathia300472C1845446OMIM11535461300139
HP:0000505HP:0000505Visual impairment0IGBP1 CL E G H3476300472Corpus callosum, agenesis of, with mental retardation, ocular coloboma, and micrognathia300472C1845446OMIM11565461300139
HP:0000505HP:0000505Visual impairment0IKBKG CL E G H8517464Achromatopsia incomplete X-linkedCN036572ORPHA13265961300248
HP:0000505HP:0000505Visual impairment0IKBKG CL E G H8517464Achromatopsia incomplete X-linkedCN036572ORPHA13375961300248
HP:0000505HP:0000505Visual impairment0IMPDH1 CL E G H3614613837Leber congenital amaurosis 11613837C1840284OMIM12836052146690
HP:0000505HP:0000505Visual impairment0IMPDH1 CL E G H3614613837Leber congenital amaurosis 11613837C1840284OMIM13456052146690
HP:0000505HP:0000505Visual impairment0INPP5E CL E G H566231454Common atrioventricular canalC0221215ORPHA146621474613037
HP:0000505HP:0000505Visual impairment0INPP5E CL E G H566231454Common atrioventricular canalC0221215ORPHA155921474613037
HP:0000505HP:0000505Visual impairment0ISCA2 CL E G H122961616370Multiple mitochondrial dysfunctions syndrome 4616370C4225348OMIM13719857615317
HP:0000505HP:0000505Visual impairment0ISCA2 CL E G H122961616370Multiple mitochondrial dysfunctions syndrome 4616370C4225348OMIM14519857615317
HP:0000505HP:0000505Visual impairment0ITPR1 CL E G H3708206700Gillespie syndrome206700C0431401OMIM18956180147265
HP:0000505HP:0000505Visual impairment0ITPR1 CL E G H3708206700Gillespie syndrome206700C0431401OMIM19696180147265
HP:0000505HP:0000505Visual impairment0LAMP2 CL E G H3920300257Danon disease300257C0878677OMIM16726501309060
HP:0000505HP:0000505Visual impairment0LAMP2 CL E G H3920300257Danon disease300257C0878677OMIM17266501309060
HP:0000505HP:0000505Visual impairment0LARGE1 CL E G H9215588ORPHA15166511603590
HP:0000505HP:0000505Visual impairment0LARGE1 CL E G H9215588ORPHA15976511603590
HP:0000505HP:0000505Visual impairment0LCA5 CL E G H167691604537Leber congenital amaurosis 5604537C1858301OMIM137431923611408
HP:0000505HP:0000505Visual impairment0LCA5 CL E G H167691604537Leber congenital amaurosis 5604537C1858301OMIM145831923611408
HP:0000505HP:0000505Visual impairment0LIMK1 CL E G H3984904Blepharophimosis nasal groove growth retardationORPHA11966613601329
HP:0000505HP:0000505Visual impairment0LIMK1 CL E G H3984904Blepharophimosis nasal groove growth retardationORPHA11976613601329
HP:0000505HP:0000505Visual impairment0LRPAP1 CL E G H4043615431Myopia 23, autosomal recessive615431C3809482OMIM11226701104225
HP:0000505HP:0000505Visual impairment0LRPAP1 CL E G H4043615431Myopia 23, autosomal recessive615431C3809482OMIM11236701104225
HP:0000505HP:0000505Visual impairment0LYST CL E G H1130214500Chédiak-Higashi syndrome214500C0007965OMIM111761968606897
HP:0000505HP:0000505Visual impairment0LYST CL E G H1130214500Chédiak-Higashi syndrome214500C0007965OMIM115181968606897
HP:0000505HP:0000505Visual impairment0MBD5 CL E G H55777156200Mental retardation, autosomal dominant 1156200C1969562OMIM187820444611472
HP:0000505HP:0000505Visual impairment0MBD5 CL E G H55777156200Mental retardation, autosomal dominant 1156200C1969562OMIM199320444611472
HP:0000505HP:0000505Visual impairment0MC1R CL E G H415779432ORPHA13766929155555
HP:0000505HP:0000505Visual impairment0MC1R CL E G H415779432ORPHA14286929155555
HP:0000505HP:0000505Visual impairment0MCOLN1 CL E G H57192252650Mucolipidosis type IV252650C0238286OMIM141813356605248
HP:0000505HP:0000505Visual impairment0MCOLN1 CL E G H57192252650Mucolipidosis type IV252650C0238286OMIM144813356605248
HP:0000505HP:0000505Visual impairment0MECR CL E G H51102617282Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities617282C4310634OMIM16019691608205
HP:0000505HP:0000505Visual impairment0MECR CL E G H51102617282Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities617282C4310634OMIM17319691608205
HP:0000505HP:0000505Visual impairment0MFF CL E G H56947617086Encephalopathy due to defective mitochondrial and peroxisomal fission 2617086C4310726OMIM110224858614785
HP:0000505HP:0000505Visual impairment0MFF CL E G H56947617086Encephalopathy due to defective mitochondrial and peroxisomal fission 2617086C4310726OMIM111324858614785
HP:0000505HP:0000505Visual impairment0MICOS13 CL E G H12598867047ORPHA11933702616658
HP:0000505HP:0000505Visual impairment0MICOS13 CL E G H12598867047ORPHA12033702616658
HP:0000505HP:0000505Visual impairment0MITF CL E G H4286103470Albinism, ocular, with sensorineural deafness103470C1863198OMIM13417105156845
HP:0000505HP:0000505Visual impairment0MITF CL E G H4286103470Albinism, ocular, with sensorineural deafness103470C1863198OMIM13497105156845
HP:0000505HP:0000505Visual impairment0MMACHC CL E G H25974277400Methylmalonic acidemia with homocystinuria277400C1848561OMIM134824525609831
HP:0000505HP:0000505Visual impairment0MMACHC CL E G H25974277400Methylmalonic acidemia with homocystinuria277400C1848561OMIM138524525609831
HP:0000505HP:0000505Visual impairment0NOTCH3 CL E G H4854136ORPHA18607883600276
HP:0000505HP:0000505Visual impairment0NOTCH3 CL E G H4854136ORPHA19467883600276
HP:0000505HP:0000505Visual impairment0NRL CL E G H4901613750Retinitis pigmentosa 27613750C1834329OMIM11648002162080
HP:0000505HP:0000505Visual impairment0NRL CL E G H4901613750Retinitis pigmentosa 27613750C1834329OMIM12178002162080
HP:0000505HP:0000505Visual impairment0NTRK2 CL E G H4915617830EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 58617830CN757795OMIM11168032600456
HP:0000505HP:0000505Visual impairment0NTRK2 CL E G H4915617830EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 58617830CN757795OMIM12028032600456
HP:0000505HP:0000505Visual impairment0NUS1 CL E G H116150617082CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iaa617082C4310727OMIM18621042610463
HP:0000505HP:0000505Visual impairment0NUS1 CL E G H116150617082CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iaa617082C4310727OMIM114321042610463
HP:0000505HP:0000505Visual impairment0OCA2 CL E G H494879432ORPHA16628101611409
HP:0000505HP:0000505Visual impairment0OCA2 CL E G H494879432ORPHA18518101611409
HP:0000505HP:0000505Visual impairment0OCRL CL E G H4952309000Lowe syndrome309000C0028860OMIM14258108300535
HP:0000505HP:0000505Visual impairment0OCRL CL E G H4952309000Lowe syndrome309000C0028860OMIM14758108300535
HP:0000505HP:0000505Visual impairment0OPA1 CL E G H49761215Cerebro reno digital syndromeORPHA15988140605290
HP:0000505HP:0000505Visual impairment0OPA1 CL E G H49761215Cerebro reno digital syndromeORPHA17398140605290
HP:0000505HP:0000505Visual impairment0OPA3 CL E G H8020767047ORPHA13728142606580
HP:0000505HP:0000505Visual impairment0OPA3 CL E G H8020767047ORPHA14018142606580
HP:0000505HP:0000505Visual impairment0OPA3 CL E G H802072585013-Methylglutaconic aciduria type 3258501C0574084OMIM13728142606580
HP:0000505HP:0000505Visual impairment0OPA3 CL E G H802072585013-Methylglutaconic aciduria type 3258501C0574084OMIM14018142606580
HP:0000505HP:0000505Visual impairment0OPN1LW CL E G H5956303700Cone monochromatism303700C0339537OMIM12649936300822
HP:0000505HP:0000505Visual impairment0OPN1LW CL E G H5956303700Cone monochromatism303700C0339537OMIM12719936300822
HP:0000505HP:0000505Visual impairment0OPN1MW CL E G H2652303700Cone monochromatism303700C0339537OMIM12554206300821
HP:0000505HP:0000505Visual impairment0OPN1MW CL E G H2652303700Cone monochromatism303700C0339537OMIM12604206300821
HP:0000505HP:0000505Visual impairment0OSGEP CL E G H55644617729GALLOWAY-MOWAT SYNDROME 3617729C4540266OMIM17818028610107
HP:0000505HP:0000505Visual impairment0OSGEP CL E G H55644617729GALLOWAY-MOWAT SYNDROME 3617729C4540266OMIM19518028610107
HP:0000505HP:0000505Visual impairment0OSTM1 CL E G H28962259720Osteopetrosis, autosomal recessive 5259720C1968603OMIM114621652607649
HP:0000505HP:0000505Visual impairment0OSTM1 CL E G H28962259720Osteopetrosis, autosomal recessive 5259720C1968603OMIM119121652607649
HP:0000505HP:0000505Visual impairment0OTX2 CL E G H50153157Lachiewicz Sibley syndromeORPHA11388522600037
HP:0000505HP:0000505Visual impairment0OTX2 CL E G H50153157Lachiewicz Sibley syndromeORPHA11628522600037
HP:0000505HP:0000505Visual impairment0PAX2 CL E G H50761475Congenital bronchobiliary fistulaORPHA11948616167409
HP:0000505HP:0000505Visual impairment0PAX2 CL E G H50761475Congenital bronchobiliary fistulaORPHA12508616167409
HP:0000505HP:0000505Visual impairment0PAX6 CL E G H5080893ORPHA15778620607108
HP:0000505HP:0000505Visual impairment0PAX6 CL E G H5080893ORPHA16328620607108
HP:0000505HP:0000505Visual impairment0PAX6 CL E G H5080136520Foveal hypoplasia and presenile cataract syndrome136520C3805604OMIM15778620607108
HP:0000505HP:0000505Visual impairment0PAX6 CL E G H5080136520Foveal hypoplasia and presenile cataract syndrome136520C3805604OMIM16328620607108
HP:0000505HP:0000505Visual impairment0PAX6 CL E G H5080165550Optic nerve hypoplasia, bilateral165550C1833797OMIM15778620607108
HP:0000505HP:0000505Visual impairment0PAX6 CL E G H5080165550Optic nerve hypoplasia, bilateral165550C1833797OMIM16328620607108
HP:0000505HP:0000505Visual impairment0PCARE CL E G H388939613428Retinitis pigmentosa 54613428C3150691OMIM160334383613425
HP:0000505HP:0000505Visual impairment0PCARE CL E G H388939613428Retinitis pigmentosa 54613428C3150691OMIM177534383613425
HP:0000505HP:0000505Visual impairment0PDE6C CL E G H5146613093Cone dystrophy 4613093C2751308OMIM13298787600827
HP:0000505HP:0000505Visual impairment0PDE6C CL E G H5146613093Cone dystrophy 4613093C2751308OMIM14108787600827
HP:0000505HP:0000505Visual impairment0PDE6C CL E G H51461871Dionisi Vici Sabetta Gambarara syndromeORPHA13298787600827
HP:0000505HP:0000505Visual impairment0PDE6C CL E G H51461871Dionisi Vici Sabetta Gambarara syndromeORPHA14108787600827
HP:0000505HP:0000505Visual impairment0PEPD CL E G H5184742Aortic dissection lentiginosisORPHA11888840613230
HP:0000505HP:0000505Visual impairment0PEPD CL E G H5184742Aortic dissection lentiginosisORPHA12918840613230
HP:0000505HP:0000505Visual impairment0PEX1 CL E G H5189912ORPHA17938850602136
HP:0000505HP:0000505Visual impairment0PEX1 CL E G H5189912ORPHA19518850602136
HP:0000505HP:0000505Visual impairment0PEX1 CL E G H518944MYBPC1-related conditionORPHA17938850602136
HP:0000505HP:0000505Visual impairment0PEX1 CL E G H518944MYBPC1-related conditionORPHA19518850602136
HP:0000505HP:0000505Visual impairment0PEX10 CL E G H5192912ORPHA14808851602859
HP:0000505HP:0000505Visual impairment0PEX10 CL E G H5192912ORPHA15788851602859
HP:0000505HP:0000505Visual impairment0PEX10 CL E G H519244MYBPC1-related conditionORPHA14808851602859
HP:0000505HP:0000505Visual impairment0PEX10 CL E G H519244MYBPC1-related conditionORPHA15788851602859
HP:0000505HP:0000505Visual impairment0PEX10 CL E G H5192614871Peroxisome biogenesis disorder 6B614871C3553948OMIM14808851602859
HP:0000505HP:0000505Visual impairment0PEX10 CL E G H5192614871Peroxisome biogenesis disorder 6B614871C3553948OMIM15788851602859
HP:0000505HP:0000505Visual impairment0PEX11B CL E G H8799912ORPHA12848853603867
HP:0000505HP:0000505Visual impairment0PEX11B CL E G H8799912ORPHA13328853603867
HP:0000505HP:0000505Visual impairment0PEX11B CL E G H879944MYBPC1-related conditionORPHA12848853603867
HP:0000505HP:0000505Visual impairment0PEX11B CL E G H879944MYBPC1-related conditionORPHA13328853603867
HP:0000505HP:0000505Visual impairment0PEX12 CL E G H5193912ORPHA12458854601758
HP:0000505HP:0000505Visual impairment0PEX12 CL E G H5193912ORPHA13208854601758
HP:0000505HP:0000505Visual impairment0PEX12 CL E G H519344MYBPC1-related conditionORPHA12458854601758
HP:0000505HP:0000505Visual impairment0PEX12 CL E G H519344MYBPC1-related conditionORPHA13208854601758
HP:0000505HP:0000505Visual impairment0PEX13 CL E G H5194912ORPHA12348855601789
HP:0000505HP:0000505Visual impairment0PEX13 CL E G H5194912ORPHA13428855601789
HP:0000505HP:0000505Visual impairment0PEX13 CL E G H519444MYBPC1-related conditionORPHA12348855601789
HP:0000505HP:0000505Visual impairment0PEX13 CL E G H519444MYBPC1-related conditionORPHA13428855601789
HP:0000505HP:0000505Visual impairment0PEX14 CL E G H5195912ORPHA12348856601791
HP:0000505HP:0000505Visual impairment0PEX14 CL E G H5195912ORPHA13118856601791
HP:0000505HP:0000505Visual impairment0PEX14 CL E G H519544MYBPC1-related conditionORPHA12348856601791
HP:0000505HP:0000505Visual impairment0PEX14 CL E G H519544MYBPC1-related conditionORPHA13118856601791
HP:0000505HP:0000505Visual impairment0PEX16 CL E G H9409912ORPHA12038857603360
HP:0000505HP:0000505Visual impairment0PEX16 CL E G H9409912ORPHA12828857603360
HP:0000505HP:0000505Visual impairment0PEX16 CL E G H940944MYBPC1-related conditionORPHA12038857603360
HP:0000505HP:0000505Visual impairment0PEX16 CL E G H940944MYBPC1-related conditionORPHA12828857603360
HP:0000505HP:0000505Visual impairment0PEX16 CL E G H9409614877Peroxisome biogenesis disorder 8B614877C3553960OMIM12038857603360
HP:0000505HP:0000505Visual impairment0PEX16 CL E G H9409614877Peroxisome biogenesis disorder 8B614877C3553960OMIM12828857603360
HP:0000505HP:0000505Visual impairment0PEX19 CL E G H5824912ORPHA11819713600279
HP:0000505HP:0000505Visual impairment0PEX19 CL E G H5824912ORPHA12499713600279
HP:0000505HP:0000505Visual impairment0PEX19 CL E G H582444MYBPC1-related conditionORPHA11819713600279
HP:0000505HP:0000505Visual impairment0PEX19 CL E G H582444MYBPC1-related conditionORPHA12499713600279
HP:0000505HP:0000505Visual impairment0PEX2 CL E G H5828912ORPHA12549717170993
HP:0000505HP:0000505Visual impairment0PEX2 CL E G H5828912ORPHA13199717170993
HP:0000505HP:0000505Visual impairment0PEX2 CL E G H582844MYBPC1-related conditionORPHA12549717170993
HP:0000505HP:0000505Visual impairment0PEX2 CL E G H582844MYBPC1-related conditionORPHA13199717170993
HP:0000505HP:0000505Visual impairment0PEX2 CL E G H5828614867Peroxisome biogenesis disorder 5B614867C3542026OMIM12549717170993
HP:0000505HP:0000505Visual impairment0PEX2 CL E G H5828614867Peroxisome biogenesis disorder 5B614867C3542026OMIM13199717170993
HP:0000505HP:0000505Visual impairment0PEX26 CL E G H55670912ORPHA131522965608666
HP:0000505HP:0000505Visual impairment0PEX26 CL E G H55670912ORPHA139222965608666
HP:0000505HP:0000505Visual impairment0PEX26 CL E G H5567044MYBPC1-related conditionORPHA131522965608666
HP:0000505HP:0000505Visual impairment0PEX26 CL E G H5567044MYBPC1-related conditionORPHA139222965608666
HP:0000505HP:0000505Visual impairment0PEX26 CL E G H55670614873Peroxisome biogenesis disorder 7B614873C3553951OMIM131522965608666
HP:0000505HP:0000505Visual impairment0PEX26 CL E G H55670614873Peroxisome biogenesis disorder 7B614873C3553951OMIM139222965608666
HP:0000505HP:0000505Visual impairment0PEX3 CL E G H8504912ORPHA11588858603164
HP:0000505HP:0000505Visual impairment0PEX3 CL E G H8504912ORPHA12198858603164
HP:0000505HP:0000505Visual impairment0PEX3 CL E G H850444MYBPC1-related conditionORPHA11588858603164
HP:0000505HP:0000505Visual impairment0PEX3 CL E G H850444MYBPC1-related conditionORPHA12198858603164
HP:0000505HP:0000505Visual impairment0PEX5 CL E G H5830912ORPHA14069719600414
HP:0000505HP:0000505Visual impairment0PEX5 CL E G H5830912ORPHA15639719600414
HP:0000505HP:0000505Visual impairment0PEX5 CL E G H583044MYBPC1-related conditionORPHA14069719600414
HP:0000505HP:0000505Visual impairment0PEX5 CL E G H583044MYBPC1-related conditionORPHA15639719600414
HP:0000505HP:0000505Visual impairment0PEX6 CL E G H5190912ORPHA16458859601498
HP:0000505HP:0000505Visual impairment0PEX6 CL E G H5190912ORPHA18558859601498
HP:0000505HP:0000505Visual impairment0PEX6 CL E G H519044MYBPC1-related conditionORPHA16458859601498
HP:0000505HP:0000505Visual impairment0PEX6 CL E G H519044MYBPC1-related conditionORPHA18558859601498
HP:0000505HP:0000505Visual impairment0PEX6 CL E G H5190614863Peroxisome biogenesis disorder 4B614863C3553937OMIM16458859601498
HP:0000505HP:0000505Visual impairment0PEX6 CL E G H5190614863Peroxisome biogenesis disorder 4B614863C3553937OMIM18558859601498
HP:0000505HP:0000505Visual impairment0PHF6 CL E G H84295301900Borjeson-Forssman-Lehmann syndrome301900C0265339OMIM126918145300414
HP:0000505HP:0000505Visual impairment0PHF6 CL E G H84295301900Borjeson-Forssman-Lehmann syndrome301900C0265339OMIM127418145300414
HP:0000505HP:0000505Visual impairment0PHOX2A CL E G H401602078Fibrosis of extraocular muscles, congenital, 2602078C1865915OMIM119691602753
HP:0000505HP:0000505Visual impairment0PIEZO2 CL E G H638951154Cataract mental retardation hypogonadismORPHA167226270613629
HP:0000505HP:0000505Visual impairment0PIEZO2 CL E G H638951154Cataract mental retardation hypogonadismORPHA170926270613629
HP:0000505HP:0000505Visual impairment0PIGT CL E G H51604615398Multiple congenital anomalies-hypotonia-seizures syndrome 3615398C3809356OMIM111814938610272
HP:0000505HP:0000505Visual impairment0PIGT CL E G H51604615398Multiple congenital anomalies-hypotonia-seizures syndrome 3615398C3809356OMIM114214938610272
HP:0000505HP:0000505Visual impairment0PITX3 CL E G H530988632ORPHA1399006602669
HP:0000505HP:0000505Visual impairment0PITX3 CL E G H530988632ORPHA1419006602669
HP:0000505HP:0000505Visual impairment0PLA2G6 CL E G H839835069ORPHA14319039603604
HP:0000505HP:0000505Visual impairment0PLA2G6 CL E G H839835069ORPHA15139039603604
HP:0000505HP:0000505Visual impairment0PLK4 CL E G H107332518ORPHA121911397605031
HP:0000505HP:0000505Visual impairment0PLK4 CL E G H107332518ORPHA133911397605031
HP:0000505HP:0000505Visual impairment0PLK4 CL E G H10733616171Microcephaly and chorioretinopathy, autosomal recessive, 2616171C4015388OMIM121911397605031
HP:0000505HP:0000505Visual impairment0PLK4 CL E G H10733616171Microcephaly and chorioretinopathy, autosomal recessive, 2616171C4015388OMIM133911397605031
HP:0000505HP:0000505Visual impairment0PLOD1 CL E G H53511900ORPHA15859081153454
HP:0000505HP:0000505Visual impairment0PLOD1 CL E G H53511900ORPHA16619081153454
HP:0000505HP:0000505Visual impairment0POLA1 CL E G H5422301220Pigmentary disorder, reticulate, with systemic manifestations, X-linked301220C1845050OMIM12169173312040
HP:0000505HP:0000505Visual impairment0POLA1 CL E G H5422301220Pigmentary disorder, reticulate, with systemic manifestations, X-linked301220C1845050OMIM13219173312040
HP:0000505HP:0000505Visual impairment0POLR1C CL E G H9533861ORPHA1101920194610060
HP:0000505HP:0000505Visual impairment0POLR1C CL E G H9533861ORPHA1113120194610060
HP:0000505HP:0000505Visual impairment0POLR1D CL E G H51082861ORPHA17920422613715
HP:0000505HP:0000505Visual impairment0POLR1D CL E G H51082861ORPHA18220422613715
HP:0000505HP:0000505Visual impairment0POMGNT1 CL E G H55624588ORPHA166219139606822
HP:0000505HP:0000505Visual impairment0POMGNT1 CL E G H55624588ORPHA179719139606822
HP:0000505HP:0000505Visual impairment0POMT1 CL E G H10585588ORPHA16099202607423
HP:0000505HP:0000505Visual impairment0POMT1 CL E G H10585588ORPHA16869202607423
HP:0000505HP:0000505Visual impairment0POMT2 CL E G H29954588ORPHA160419743607439
HP:0000505HP:0000505Visual impairment0POMT2 CL E G H29954588ORPHA169119743607439
HP:0000505HP:0000505Visual impairment0PRDX1 CL E G H5052277400Methylmalonic acidemia with homocystinuria277400C1848561OMIM1319352176763
HP:0000505HP:0000505Visual impairment0PRDX1 CL E G H5052277400Methylmalonic acidemia with homocystinuria277400C1848561OMIM1359352176763
HP:0000505HP:0000505Visual impairment0PRNP CL E G H5621123400Jakob-Creutzfeldt disease123400C0022336OMIM11319449176640
HP:0000505HP:0000505Visual impairment0PRNP CL E G H5621123400Jakob-Creutzfeldt disease123400C0022336OMIM11469449176640
HP:0000505HP:0000505Visual impairment0PROKR2 CL E G H1286743157Lachiewicz Sibley syndromeORPHA112015836607123
HP:0000505HP:0000505Visual impairment0PROKR2 CL E G H1286743157Lachiewicz Sibley syndromeORPHA112715836607123
HP:0000505HP:0000505Visual impairment0PRPS1 CL E G H56311187Cerebellar agenesisORPHA13039462311850
HP:0000505HP:0000505Visual impairment0PRPS1 CL E G H56311187Cerebellar agenesisORPHA13219462311850
HP:0000505HP:0000505Visual impairment0PTPN22 CL E G H261913437ORPHA1319652600716
HP:0000505HP:0000505Visual impairment0RAB11B CL E G H9230617807NEURODEVELOPMENTAL DISORDER WITH ATAXIC GAIT, ABSENT SPEECH, AND DECREASED CORTICAL WHITE MATTER617807C4540498OMIM1339761604198
HP:0000505HP:0000505Visual impairment0RAB11B CL E G H9230617807NEURODEVELOPMENTAL DISORDER WITH ATAXIC GAIT, ABSENT SPEECH, AND DECREASED CORTICAL WHITE MATTER617807C4540498OMIM1569761604198
HP:0000505HP:0000505Visual impairment0RFC2 CL E G H5982904Blepharophimosis nasal groove growth retardationORPHA11749970600404
HP:0000505HP:0000505Visual impairment0RFC2 CL E G H5982904Blepharophimosis nasal groove growth retardationORPHA11759970600404
HP:0000505HP:0000505Visual impairment0RFT1 CL E G H91869244310ORPHA123330220611908
HP:0000505HP:0000505Visual impairment0RFT1 CL E G H91869244310ORPHA132430220611908
HP:0000505HP:0000505Visual impairment0RGS9 CL E G H878775374ORPHA123310004604067
HP:0000505HP:0000505Visual impairment0RGS9 CL E G H878775374ORPHA130510004604067
HP:0000505HP:0000505Visual impairment0RGS9BP CL E G H38853175374ORPHA17030304607814
HP:0000505HP:0000505Visual impairment0RGS9BP CL E G H38853175374ORPHA19930304607814
HP:0000505HP:0000505Visual impairment0RIMS1 CL E G H22999603649Cone-rod dystrophy 7603649C1863634OMIM149817282606629
HP:0000505HP:0000505Visual impairment0RIMS1 CL E G H22999603649Cone-rod dystrophy 7603649C1863634OMIM167417282606629
HP:0000505HP:0000505Visual impairment0RMRP CL E G H6023175ORPHA149810031157660
HP:0000505HP:0000505Visual impairment0RMRP CL E G H6023175ORPHA160910031157660
HP:0000505HP:0000505Visual impairment0RPE65 CL E G H6121613794Retinitis pigmentosa 20613794C3151086OMIM150010294180069
HP:0000505HP:0000505Visual impairment0RPE65 CL E G H6121613794Retinitis pigmentosa 20613794C3151086OMIM157610294180069
HP:0000505HP:0000505Visual impairment0RPGR CL E G H6103304020Cone-rod dystrophy, X-linked 1304020C1844776OMIM180210295312610
HP:0000505HP:0000505Visual impairment0RPGR CL E G H6103304020Cone-rod dystrophy, X-linked 1304020C1844776OMIM184710295312610
HP:0000505HP:0000505Visual impairment0RPGRIP1L CL E G H233221454Common atrioventricular canalC0221215ORPHA179429168610937
HP:0000505HP:0000505Visual impairment0RPGRIP1L CL E G H233221454Common atrioventricular canalC0221215ORPHA196429168610937
HP:0000505HP:0000505Visual impairment0SAG CL E G H6295613758Retinitis pigmentosa 47613758C3151061OMIM123010521181031
HP:0000505HP:0000505Visual impairment0SAG CL E G H6295613758Retinitis pigmentosa 47613758C3151061OMIM129610521181031
HP:0000505HP:0000505Visual impairment0SALL4 CL E G H57167959ORPHA117815924607343
HP:0000505HP:0000505Visual impairment0SALL4 CL E G H57167959ORPHA119815924607343
HP:0000505HP:0000505Visual impairment0SDHA CL E G H6389252011Mitochondrial complex II deficiency252011C1855008OMIM1154510680600857
HP:0000505HP:0000505Visual impairment0SDHA CL E G H6389252011Mitochondrial complex II deficiency252011C1855008OMIM1177810680600857
HP:0000505HP:0000505Visual impairment0SDHAF1 CL E G H644096252011Mitochondrial complex II deficiency252011C1855008OMIM14633867612848
HP:0000505HP:0000505Visual impairment0SDHAF1 CL E G H644096252011Mitochondrial complex II deficiency252011C1855008OMIM15433867612848
HP:0000505HP:0000505Visual impairment0SDHD CL E G H6392252011Mitochondrial complex II deficiency252011C1855008OMIM144210683602690
HP:0000505HP:0000505Visual impairment0SDHD CL E G H6392252011Mitochondrial complex II deficiency252011C1855008OMIM150710683602690
HP:0000505HP:0000505Visual impairment0SETBP1 CL E G H26040798ORPHA132815573611060
HP:0000505HP:0000505Visual impairment0SETBP1 CL E G H26040798ORPHA156015573611060
HP:0000505HP:0000505Visual impairment0SFXN4 CL E G H119559615578Combined oxidative phosphorylation deficiency 18615578C3810001OMIM114616088615564
HP:0000505HP:0000505Visual impairment0SFXN4 CL E G H119559615578Combined oxidative phosphorylation deficiency 18615578C3810001OMIM115016088615564
HP:0000505HP:0000505Visual impairment0SLC45A2 CL E G H5115179435ORPHA116216472606202
HP:0000505HP:0000505Visual impairment0SLC45A2 CL E G H5115179435ORPHA126716472606202
HP:0000505HP:0000505Visual impairment0SLC45A2 CL E G H51151606574Oculocutaneous albinism type 4606574C1847836OMIM116216472606202
HP:0000505HP:0000505Visual impairment0SLC45A2 CL E G H51151606574Oculocutaneous albinism type 4606574C1847836OMIM126716472606202
HP:0000505HP:0000505Visual impairment0SLC4A11 CL E G H839591490Congenital ichtyosiform erythrodermaORPHA147916438610206
HP:0000505HP:0000505Visual impairment0SLC4A11 CL E G H839591490Congenital ichtyosiform erythrodermaORPHA153316438610206
HP:0000505HP:0000505Visual impairment0SLC4A11 CL E G H83959613268Corneal dystrophy, Fuchs endothelial, 4613268C2750450OMIM147916438610206
HP:0000505HP:0000505Visual impairment0SLC4A11 CL E G H83959613268Corneal dystrophy, Fuchs endothelial, 4613268C2750450OMIM153316438610206
HP:0000505HP:0000505Visual impairment0SMARCB1 CL E G H6598614608Mental retardation, autosomal dominant 15614608C3553248OMIM164211103601607
HP:0000505HP:0000505Visual impairment0SMARCB1 CL E G H6598614608Mental retardation, autosomal dominant 15614608C3553248OMIM171911103601607
HP:0000505HP:0000505Visual impairment0SMG9 CL E G H56006616920Heart and brain malformation syndrome616920C4310793OMIM13325763613176
HP:0000505HP:0000505Visual impairment0SMG9 CL E G H56006616920Heart and brain malformation syndrome616920C4310793OMIM13425763613176
HP:0000505HP:0000505Visual impairment0SNRNP200 CL E G H23020610359Retinitis pigmentosa 33610359C1835895OMIM149730859601664
HP:0000505HP:0000505Visual impairment0SNRNP200 CL E G H23020610359Retinitis pigmentosa 33610359C1835895OMIM162830859601664
HP:0000505HP:0000505Visual impairment0SNX10 CL E G H29887667ORPHA15614974614780
HP:0000505HP:0000505Visual impairment0SNX10 CL E G H29887667ORPHA18914974614780
HP:0000505HP:0000505Visual impairment0SOX2 CL E G H66573157Lachiewicz Sibley syndromeORPHA115511195184429
HP:0000505HP:0000505Visual impairment0SOX2 CL E G H66573157Lachiewicz Sibley syndromeORPHA116011195184429
HP:0000505HP:0000505Visual impairment0SOX3 CL E G H66583157Lachiewicz Sibley syndromeORPHA122511199313430
HP:0000505HP:0000505Visual impairment0SOX3 CL E G H66583157Lachiewicz Sibley syndromeORPHA123011199313430
HP:0000505HP:0000505Visual impairment0SPG11 CL E G H80208604360Spastic paraplegia 11, autosomal recessive604360C1858479OMIM1149411226610844
HP:0000505HP:0000505Visual impairment0SPG11 CL E G H80208604360Spastic paraplegia 11, autosomal recessive604360C1858479OMIM1186611226610844
HP:0000505HP:0000505Visual impairment0SUCLA2 CL E G H88031933ORPHA124411448603921
HP:0000505HP:0000505Visual impairment0SUCLA2 CL E G H88031933ORPHA127711448603921
HP:0000505HP:0000505Visual impairment0SUMF1 CL E G H285362585ORPHA138920376607939
HP:0000505HP:0000505Visual impairment0SUMF1 CL E G H285362585ORPHA148720376607939
HP:0000505HP:0000505Visual impairment0SYNJ1 CL E G H8867617389Epileptic encephalopathy, early infantile, 53617389C4479313OMIM173011503604297
HP:0000505HP:0000505Visual impairment0SYNJ1 CL E G H8867617389Epileptic encephalopathy, early infantile, 53617389C4479313OMIM190911503604297
HP:0000505HP:0000505Visual impairment0TBL2 CL E G H26608904Blepharophimosis nasal groove growth retardationORPHA116111586605842
HP:0000505HP:0000505Visual impairment0TBL2 CL E G H26608904Blepharophimosis nasal groove growth retardationORPHA116211586605842
HP:0000505HP:0000505Visual impairment0TCIRG1 CL E G H10312667ORPHA154411647604592
HP:0000505HP:0000505Visual impairment0TCIRG1 CL E G H10312667ORPHA167411647604592
HP:0000505HP:0000505Visual impairment0TCOF1 CL E G H6949861ORPHA138711654606847
HP:0000505HP:0000505Visual impairment0TCOF1 CL E G H6949861ORPHA143811654606847
HP:0000505HP:0000505Visual impairment0TGFBI CL E G H7045608471Lattice corneal dystrophy type 3A608471C1837974OMIM112311771601692
HP:0000505HP:0000505Visual impairment0TGFBI CL E G H7045608471Lattice corneal dystrophy type 3A608471C1837974OMIM112611771601692
HP:0000505HP:0000505Visual impairment0TIMM8A CL E G H1678304700Mohr-Tranebjaerg syndrome304700C0796074OMIM120111817300356
HP:0000505HP:0000505Visual impairment0TIMM8A CL E G H1678304700Mohr-Tranebjaerg syndrome304700C0796074OMIM121111817300356
HP:0000505HP:0000505Visual impairment0TMEM216 CL E G H51259608091Joubert syndrome 2608091C1842577OMIM115125018613277
HP:0000505HP:0000505Visual impairment0TMEM216 CL E G H51259608091Joubert syndrome 2608091C1842577OMIM116825018613277
HP:0000505HP:0000505Visual impairment0TMEM67 CL E G H911471454Common atrioventricular canalC0221215ORPHA140228396609884
HP:0000505HP:0000505Visual impairment0TMEM67 CL E G H911471454Common atrioventricular canalC0221215ORPHA156928396609884
HP:0000505HP:0000505Visual impairment0TNFSF11 CL E G H8600667ORPHA112911926602642
HP:0000505HP:0000505Visual impairment0TNFSF11 CL E G H8600667ORPHA116611926602642
HP:0000505HP:0000505Visual impairment0TP53RK CL E G H112858617730GALLOWAY-MOWAT SYNDROME 4617730C4540270OMIM13616197608679
HP:0000505HP:0000505Visual impairment0TP53RK CL E G H112858617730GALLOWAY-MOWAT SYNDROME 4617730C4540270OMIM13716197608679
HP:0000505HP:0000505Visual impairment0TRAPPC11 CL E G H60684869ORPHA157325751614138
HP:0000505HP:0000505Visual impairment0TRAPPC11 CL E G H60684869ORPHA167325751614138
HP:0000505HP:0000505Visual impairment0TREX1 CL E G H11277192315Vasculopathy, retinal, with cerebral leukodystrophy192315C1860518OMIM119812269606609
HP:0000505HP:0000505Visual impairment0TREX1 CL E G H11277192315Vasculopathy, retinal, with cerebral leukodystrophy192315C1860518OMIM128912269606609
HP:0000505HP:0000505Visual impairment0TSEN2 CL E G H80746612389Pontocerebellar hypoplasia type 2B612389C2676466OMIM120828422608753
HP:0000505HP:0000505Visual impairment0TSEN2 CL E G H80746612389Pontocerebellar hypoplasia type 2B612389C2676466OMIM122828422608753
HP:0000505HP:0000505Visual impairment0TSEN34 CL E G H79042612390Pontocerebellar hypoplasia type 2C612390C2676465OMIM113215506608754
HP:0000505HP:0000505Visual impairment0TSEN34 CL E G H79042612390Pontocerebellar hypoplasia type 2C612390C2676465OMIM114015506608754
HP:0000505HP:0000505Visual impairment0TSEN54 CL E G H283989277470Pontocerebellar hypoplasia type 2A277470C1848526OMIM122027561608755
HP:0000505HP:0000505Visual impairment0TSEN54 CL E G H283989277470Pontocerebellar hypoplasia type 2A277470C1848526OMIM126527561608755
HP:0000505HP:0000505Visual impairment0TSFM CL E G H10102610505Combined oxidative phosphorylation deficiency 3610505C1864840OMIM118312367604723
HP:0000505HP:0000505Visual impairment0TSFM CL E G H10102610505Combined oxidative phosphorylation deficiency 3610505C1864840OMIM124412367604723
HP:0000505HP:0000505Visual impairment0TTR CL E G H7276105210Amyloidogenic transthyretin amyloidosis105210C2751492OMIM128212405176300
HP:0000505HP:0000505Visual impairment0TTR CL E G H7276105210Amyloidogenic transthyretin amyloidosis105210C2751492OMIM130612405176300
HP:0000505HP:0000505Visual impairment0TUBB4A CL E G H10382612438Leukodystrophy, hypomyelinating, 6612438C2676244OMIM116820774602662
HP:0000505HP:0000505Visual impairment0TUBB4A CL E G H10382612438Leukodystrophy, hypomyelinating, 6612438C2676244OMIM118120774602662
HP:0000505HP:0000505Visual impairment0TUBGCP4 CL E G H272292518ORPHA122316691609610
HP:0000505HP:0000505Visual impairment0TUBGCP4 CL E G H272292518ORPHA129116691609610
HP:0000505HP:0000505Visual impairment0TUBGCP6 CL E G H853782518ORPHA191418127610053
HP:0000505HP:0000505Visual impairment0TUBGCP6 CL E G H853782518ORPHA1126618127610053
HP:0000505HP:0000505Visual impairment0TUBGCP6 CL E G H85378251270Microcephaly with chorioretinopathy, autosomal recessive251270C3278481OMIM191418127610053
HP:0000505HP:0000505Visual impairment0TUBGCP6 CL E G H85378251270Microcephaly with chorioretinopathy, autosomal recessive251270C3278481OMIM1126618127610053
HP:0000505HP:0000505Visual impairment0TWIST2 CL E G H117581920Bone dysplasia Azouz typeORPHA19220670607556
HP:0000505HP:0000505Visual impairment0TWIST2 CL E G H117581920Bone dysplasia Azouz typeORPHA19920670607556
HP:0000505HP:0000505Visual impairment0TYR CL E G H729979431ORPHA125912442606933
HP:0000505HP:0000505Visual impairment0TYR CL E G H729979431ORPHA135812442606933
HP:0000505HP:0000505Visual impairment0TYR CL E G H729979434ORPHA125912442606933
HP:0000505HP:0000505Visual impairment0TYR CL E G H729979434ORPHA135812442606933
HP:0000505HP:0000505Visual impairment0TYR CL E G H7299103470Albinism, ocular, with sensorineural deafness103470C1863198OMIM125912442606933
HP:0000505HP:0000505Visual impairment0TYR CL E G H7299103470Albinism, ocular, with sensorineural deafness103470C1863198OMIM135812442606933
HP:0000505HP:0000505Visual impairment0TYR CL E G H7299606952Oculocutaneous albinism type 1B606952C1847024OMIM125912442606933
HP:0000505HP:0000505Visual impairment0TYR CL E G H7299606952Oculocutaneous albinism type 1B606952C1847024OMIM135812442606933
HP:0000505HP:0000505Visual impairment0VPS13B CL E G H157680216550Cohen syndrome216550C0265223OMIM126112183607817
HP:0000505HP:0000505Visual impairment0VPS13B CL E G H157680216550Cohen syndrome216550C0265223OMIM131822183607817
HP:0000505HP:0000505Visual impairment0WT1 CL E G H7490893ORPHA187312796607102
HP:0000505HP:0000505Visual impairment0WT1 CL E G H7490893ORPHA1101812796607102
HP:0000505HP:0000505Visual impairment0ZFYVE26 CL E G H23503270700Spastic paraplegia 15270700C1849128OMIM1126420761612012
HP:0000505HP:0000505Visual impairment0ZFYVE26 CL E G H23503270700Spastic paraplegia 15270700C1849128OMIM1145720761612012
HP:0000505HP:0100704Cerebral visual impairment1AAAS CL E G H8086869ORPHA116213666605378
HP:0000505HP:0100704Cerebral visual impairment1AAAS CL E G H8086869ORPHA117413666605378
HP:0000505HP:0007663Reduced visual acuity1AAAS CL E G H8086869ORPHA116213666605378
HP:0000505HP:0007663Reduced visual acuity1AAAS CL E G H8086869ORPHA117413666605378
HP:0000505HP:0001123Visual field defect1AAAS CL E G H8086869ORPHA116213666605378
HP:0000505HP:0001123Visual field defect1AAAS CL E G H8086869ORPHA117413666605378
HP:0000505HP:0000572Visual loss1AAAS CL E G H8086869ORPHA116213666605378
HP:0000505HP:0000572Visual loss1AAAS CL E G H8086869ORPHA117413666605378
HP:0000505HP:0100704Cerebral visual impairment1ABCA1 CL E G H19205400Tangier disease205400C0039292OMIM157629600046
HP:0000505HP:0100704Cerebral visual impairment1ABCA1 CL E G H19205400Tangier disease205400C0039292OMIM166429600046
HP:0000505HP:0007663Reduced visual acuity1ABCA1 CL E G H19205400Tangier disease205400C0039292OMIM157629600046
HP:0000505HP:0007663Reduced visual acuity1ABCA1 CL E G H19205400Tangier disease205400C0039292OMIM166429600046
HP:0000505HP:0001123Visual field defect1ABCA1 CL E G H19205400Tangier disease205400C0039292OMIM157629600046
HP:0000505HP:0001123Visual field defect1ABCA1 CL E G H19205400Tangier disease205400C0039292OMIM166429600046
HP:0000505HP:0000572Visual loss1ABCA1 CL E G H19205400Tangier disease205400C0039292OMIM157629600046
HP:0000505HP:0000572Visual loss1ABCA1 CL E G H19205400Tangier disease205400C0039292OMIM166429600046
HP:0000505HP:0100704Cerebral visual impairment1ABCC6 CL E G H368177850Pseudoxanthoma elasticum, forme fruste177850C1867450OMIM191457603234
HP:0000505HP:0100704Cerebral visual impairment1ABCC6 CL E G H368177850Pseudoxanthoma elasticum, forme fruste177850C1867450OMIM1113757603234
HP:0000505HP:0007663Reduced visual acuity1ABCC6 CL E G H368177850Pseudoxanthoma elasticum, forme fruste177850C1867450OMIM191457603234
HP:0000505HP:0007663Reduced visual acuity1ABCC6 CL E G H368177850Pseudoxanthoma elasticum, forme fruste177850C1867450OMIM1113757603234
HP:0000505HP:0001123Visual field defect1ABCC6 CL E G H368177850Pseudoxanthoma elasticum, forme fruste177850C1867450OMIM191457603234
HP:0000505HP:0001123Visual field defect1ABCC6 CL E G H368177850Pseudoxanthoma elasticum, forme fruste177850C1867450OMIM1113757603234
HP:0000505HP:0000572Visual loss1ABCC6 CL E G H368177850Pseudoxanthoma elasticum, forme fruste177850C1867450OMIM191457603234
HP:0000505HP:0000572Visual loss1ABCC6 CL E G H368177850Pseudoxanthoma elasticum, forme fruste177850C1867450OMIM1113757603234
HP:0000505HP:0100704Cerebral visual impairment1ADAM9 CL E G H8754612775Cone-rod dystrophy 9612775C1423873OMIM1257216602713
HP:0000505HP:0100704Cerebral visual impairment1ADAM9 CL E G H8754612775Cone-rod dystrophy 9612775C1423873OMIM1315216602713
HP:0000505HP:0007663Reduced visual acuity1ADAM9 CL E G H8754612775Cone-rod dystrophy 9612775C1423873OMIM1257216602713
HP:0000505HP:0007663Reduced visual acuity1ADAM9 CL E G H8754612775Cone-rod dystrophy 9612775C1423873OMIM1315216602713
HP:0000505HP:0001123Visual field defect1ADAM9 CL E G H8754612775Cone-rod dystrophy 9612775C1423873OMIM1257216602713
HP:0000505HP:0001123Visual field defect1ADAM9 CL E G H8754612775Cone-rod dystrophy 9612775C1423873OMIM1315216602713
HP:0000505HP:0000572Visual loss1ADAM9 CL E G H8754612775Cone-rod dystrophy 9612775C1423873OMIM1257216602713
HP:0000505HP:0000572Visual loss1ADAM9 CL E G H8754612775Cone-rod dystrophy 9612775C1423873OMIM1315216602713
HP:0000505HP:0100704Cerebral visual impairment1ADNP CL E G H23394615873Helsmoortel-van der aa syndrome615873C4014538OMIM125115766611386
HP:0000505HP:0100704Cerebral visual impairment1ADNP CL E G H23394615873Helsmoortel-van der aa syndrome615873C4014538OMIM126815766611386
HP:0000505HP:0007663Reduced visual acuity1ADNP CL E G H23394615873Helsmoortel-van der aa syndrome615873C4014538OMIM125115766611386
HP:0000505HP:0007663Reduced visual acuity1ADNP CL E G H23394615873Helsmoortel-van der aa syndrome615873C4014538OMIM126815766611386
HP:0000505HP:0001123Visual field defect1ADNP CL E G H23394615873Helsmoortel-van der aa syndrome615873C4014538OMIM125115766611386
HP:0000505HP:0001123Visual field defect1ADNP CL E G H23394615873Helsmoortel-van der aa syndrome615873C4014538OMIM126815766611386
HP:0000505HP:0000572Visual loss1ADNP CL E G H23394615873Helsmoortel-van der aa syndrome615873C4014538OMIM125115766611386
HP:0000505HP:0000572Visual loss1ADNP CL E G H23394615873Helsmoortel-van der aa syndrome615873C4014538OMIM126815766611386
HP:0000505HP:0100704Cerebral visual impairment1AHI1 CL E G H54806608629Joubert syndrome 3608629C1837713OMIM165021575608894
HP:0000505HP:0100704Cerebral visual impairment1AHI1 CL E G H54806608629Joubert syndrome 3608629C1837713OMIM182721575608894
HP:0000505HP:0007663Reduced visual acuity1AHI1 CL E G H54806608629Joubert syndrome 3608629C1837713OMIM165021575608894
HP:0000505HP:0007663Reduced visual acuity1AHI1 CL E G H54806608629Joubert syndrome 3608629C1837713OMIM182721575608894
HP:0000505HP:0001123Visual field defect1AHI1 CL E G H54806608629Joubert syndrome 3608629C1837713OMIM165021575608894
HP:0000505HP:0001123Visual field defect1AHI1 CL E G H54806608629Joubert syndrome 3608629C1837713OMIM182721575608894
HP:0000505HP:0000572Visual loss1AHI1 CL E G H54806608629Joubert syndrome 3608629C1837713OMIM165021575608894
HP:0000505HP:0000572Visual loss1AHI1 CL E G H54806608629Joubert syndrome 3608629C1837713OMIM182721575608894
HP:0000505HP:0100704Cerebral visual impairment1AIMP1 CL E G H9255260600Leukodystrophy, hypomyelinating 3260600C1850053OMIM15210648603605
HP:0000505HP:0100704Cerebral visual impairment1AIMP1 CL E G H9255260600Leukodystrophy, hypomyelinating 3260600C1850053OMIM16610648603605
HP:0000505HP:0007663Reduced visual acuity1AIMP1 CL E G H9255260600Leukodystrophy, hypomyelinating 3260600C1850053OMIM15210648603605
HP:0000505HP:0007663Reduced visual acuity1AIMP1 CL E G H9255260600Leukodystrophy, hypomyelinating 3260600C1850053OMIM16610648603605
HP:0000505HP:0001123Visual field defect1AIMP1 CL E G H9255260600Leukodystrophy, hypomyelinating 3260600C1850053OMIM15210648603605
HP:0000505HP:0001123Visual field defect1AIMP1 CL E G H9255260600Leukodystrophy, hypomyelinating 3260600C1850053OMIM16610648603605
HP:0000505HP:0000572Visual loss1AIMP1 CL E G H9255260600Leukodystrophy, hypomyelinating 3260600C1850053OMIM15210648603605
HP:0000505HP:0000572Visual loss1AIMP1 CL E G H9255260600Leukodystrophy, hypomyelinating 3260600C1850053OMIM16610648603605
HP:0000505HP:0100704Cerebral visual impairment1AIRE CL E G H3263453Meier Rotschild syndromeORPHA1641360607358
HP:0000505HP:0100704Cerebral visual impairment1AIRE CL E G H3263453Meier Rotschild syndromeORPHA1718360607358
HP:0000505HP:0007663Reduced visual acuity1AIRE CL E G H3263453Meier Rotschild syndromeORPHA1641360607358
HP:0000505HP:0007663Reduced visual acuity1AIRE CL E G H3263453Meier Rotschild syndromeORPHA1718360607358
HP:0000505HP:0001123Visual field defect1AIRE CL E G H3263453Meier Rotschild syndromeORPHA1641360607358
HP:0000505HP:0001123Visual field defect1AIRE CL E G H3263453Meier Rotschild syndromeORPHA1718360607358
HP:0000505HP:0000572Visual loss1AIRE CL E G H3263453Meier Rotschild syndromeORPHA1641360607358
HP:0000505HP:0000572Visual loss1AIRE CL E G H3263453Meier Rotschild syndromeORPHA1718360607358
HP:0000505HP:0100704Cerebral visual impairment1ALG2 CL E G H85365607906Congenital disorder of glycosylation type 1I607906C1842836OMIM119323159607905
HP:0000505HP:0100704Cerebral visual impairment1ALG2 CL E G H85365607906Congenital disorder of glycosylation type 1I607906C1842836OMIM124123159607905
HP:0000505HP:0007663Reduced visual acuity1ALG2 CL E G H85365607906Congenital disorder of glycosylation type 1I607906C1842836OMIM119323159607905
HP:0000505HP:0007663Reduced visual acuity1ALG2 CL E G H85365607906Congenital disorder of glycosylation type 1I607906C1842836OMIM124123159607905
HP:0000505HP:0001123Visual field defect1ALG2 CL E G H85365607906Congenital disorder of glycosylation type 1I607906C1842836OMIM119323159607905
HP:0000505HP:0001123Visual field defect1ALG2 CL E G H85365607906Congenital disorder of glycosylation type 1I607906C1842836OMIM124123159607905
HP:0000505HP:0000572Visual loss1ALG2 CL E G H85365607906Congenital disorder of glycosylation type 1I607906C1842836OMIM119323159607905
HP:0000505HP:0000572Visual loss1ALG2 CL E G H85365607906Congenital disorder of glycosylation type 1I607906C1842836OMIM124123159607905
HP:0000505HP:0100704Cerebral visual impairment1AMACR CL E G H23600614307Alpha-methylacyl-CoA racemase deficiency614307C3280428OMIM1164451604489
HP:0000505HP:0100704Cerebral visual impairment1AMACR CL E G H23600614307Alpha-methylacyl-CoA racemase deficiency614307C3280428OMIM1251451604489
HP:0000505HP:0007663Reduced visual acuity1AMACR CL E G H23600614307Alpha-methylacyl-CoA racemase deficiency614307C3280428OMIM1164451604489
HP:0000505HP:0007663Reduced visual acuity1AMACR CL E G H23600614307Alpha-methylacyl-CoA racemase deficiency614307C3280428OMIM1251451604489
HP:0000505HP:0001123Visual field defect1AMACR CL E G H23600614307Alpha-methylacyl-CoA racemase deficiency614307C3280428OMIM1164451604489
HP:0000505HP:0001123Visual field defect1AMACR CL E G H23600614307Alpha-methylacyl-CoA racemase deficiency614307C3280428OMIM1251451604489
HP:0000505HP:0000572Visual loss1AMACR CL E G H23600614307Alpha-methylacyl-CoA racemase deficiency614307C3280428OMIM1164451604489
HP:0000505HP:0000572Visual loss1AMACR CL E G H23600614307Alpha-methylacyl-CoA racemase deficiency614307C3280428OMIM1251451604489
HP:0000505HP:0100704Cerebral visual impairment1ANTXR1 CL E G H841682067ORPHA18321014606410
HP:0000505HP:0100704Cerebral visual impairment1ANTXR1 CL E G H841682067ORPHA18421014606410
HP:0000505HP:0007663Reduced visual acuity1ANTXR1 CL E G H841682067ORPHA18321014606410
HP:0000505HP:0007663Reduced visual acuity1ANTXR1 CL E G H841682067ORPHA18421014606410
HP:0000505HP:0001123Visual field defect1ANTXR1 CL E G H841682067ORPHA18321014606410
HP:0000505HP:0001123Visual field defect1ANTXR1 CL E G H841682067ORPHA18421014606410
HP:0000505HP:0000572Visual loss1ANTXR1 CL E G H841682067ORPHA18321014606410
HP:0000505HP:0000572Visual loss1ANTXR1 CL E G H841682067ORPHA18421014606410
HP:0000505HP:0100704Cerebral visual impairment1AP3B1 CL E G H8546608233Hermansky Pudlak syndrome 2608233C1842362OMIM1356566603401
HP:0000505HP:0100704Cerebral visual impairment1AP3B1 CL E G H8546608233Hermansky Pudlak syndrome 2608233C1842362OMIM1467566603401
HP:0000505HP:0007663Reduced visual acuity1AP3B1 CL E G H8546608233Hermansky Pudlak syndrome 2608233C1842362OMIM1356566603401
HP:0000505HP:0007663Reduced visual acuity1AP3B1 CL E G H8546608233Hermansky Pudlak syndrome 2608233C1842362OMIM1467566603401
HP:0000505HP:0001123Visual field defect1AP3B1 CL E G H8546608233Hermansky Pudlak syndrome 2608233C1842362OMIM1356566603401
HP:0000505HP:0001123Visual field defect1AP3B1 CL E G H8546608233Hermansky Pudlak syndrome 2608233C1842362OMIM1467566603401
HP:0000505HP:0000572Visual loss1AP3B1 CL E G H8546608233Hermansky Pudlak syndrome 2608233C1842362OMIM1356566603401
HP:0000505HP:0000572Visual loss1AP3B1 CL E G H8546608233Hermansky Pudlak syndrome 2608233C1842362OMIM1467566603401
HP:0000505HP:0100704Cerebral visual impairment1AP3D1 CL E G H8943284804ORPHA1226568607246
HP:0000505HP:0100704Cerebral visual impairment1AP3D1 CL E G H8943284804ORPHA1394568607246
HP:0000505HP:0007663Reduced visual acuity1AP3D1 CL E G H8943284804ORPHA1226568607246
HP:0000505HP:0007663Reduced visual acuity1AP3D1 CL E G H8943284804ORPHA1394568607246
HP:0000505HP:0001123Visual field defect1AP3D1 CL E G H8943284804ORPHA1226568607246
HP:0000505HP:0001123Visual field defect1AP3D1 CL E G H8943284804ORPHA1394568607246
HP:0000505HP:0000572Visual loss1AP3D1 CL E G H8943284804ORPHA1226568607246
HP:0000505HP:0000572Visual loss1AP3D1 CL E G H8943284804ORPHA1394568607246
HP:0000505HP:0100704Cerebral visual impairment1ARID1A CL E G H8289614607Mental retardation, autosomal dominant 14614607C3553247OMIM138311110603024
HP:0000505HP:0100704Cerebral visual impairment1ARID1A CL E G H8289614607Mental retardation, autosomal dominant 14614607C3553247OMIM144211110603024
HP:0000505HP:0007663Reduced visual acuity1ARID1A CL E G H8289614607Mental retardation, autosomal dominant 14614607C3553247OMIM138311110603024
HP:0000505HP:0007663Reduced visual acuity1ARID1A CL E G H8289614607Mental retardation, autosomal dominant 14614607C3553247OMIM144211110603024
HP:0000505HP:0001123Visual field defect1ARID1A CL E G H8289614607Mental retardation, autosomal dominant 14614607C3553247OMIM138311110603024
HP:0000505HP:0001123Visual field defect1ARID1A CL E G H8289614607Mental retardation, autosomal dominant 14614607C3553247OMIM144211110603024
HP:0000505HP:0000572Visual loss1ARID1A CL E G H8289614607Mental retardation, autosomal dominant 14614607C3553247OMIM138311110603024
HP:0000505HP:0000572Visual loss1ARID1A CL E G H8289614607Mental retardation, autosomal dominant 14614607C3553247OMIM144211110603024
HP:0000505HP:0100704Cerebral visual impairment1ARID1B CL E G H57492135900Coffin-Siris syndrome 1135900C3281201OMIM186618040614556
HP:0000505HP:0100704Cerebral visual impairment1ARID1B CL E G H57492135900Coffin-Siris syndrome 1135900C3281201OMIM195818040614556
HP:0000505HP:0007663Reduced visual acuity1ARID1B CL E G H57492135900Coffin-Siris syndrome 1135900C3281201OMIM186618040614556
HP:0000505HP:0007663Reduced visual acuity1ARID1B CL E G H57492135900Coffin-Siris syndrome 1135900C3281201OMIM195818040614556
HP:0000505HP:0001123Visual field defect1ARID1B CL E G H57492135900Coffin-Siris syndrome 1135900C3281201OMIM186618040614556
HP:0000505HP:0001123Visual field defect1ARID1B CL E G H57492135900Coffin-Siris syndrome 1135900C3281201OMIM195818040614556
HP:0000505HP:0000572Visual loss1ARID1B CL E G H57492135900Coffin-Siris syndrome 1135900C3281201OMIM186618040614556
HP:0000505HP:0000572Visual loss1ARID1B CL E G H57492135900Coffin-Siris syndrome 1135900C3281201OMIM195818040614556
HP:0000505HP:0100704Cerebral visual impairment1ARNT2 CL E G H99153157Lachiewicz Sibley syndromeORPHA16216876606036
HP:0000505HP:0100704Cerebral visual impairment1ARNT2 CL E G H99153157Lachiewicz Sibley syndromeORPHA18416876606036
HP:0000505HP:0007663Reduced visual acuity1ARNT2 CL E G H99153157Lachiewicz Sibley syndromeORPHA16216876606036
HP:0000505HP:0007663Reduced visual acuity1ARNT2 CL E G H99153157Lachiewicz Sibley syndromeORPHA18416876606036
HP:0000505HP:0001123Visual field defect1ARNT2 CL E G H99153157Lachiewicz Sibley syndromeORPHA16216876606036
HP:0000505HP:0001123Visual field defect1ARNT2 CL E G H99153157Lachiewicz Sibley syndromeORPHA18416876606036
HP:0000505HP:0000572Visual loss1ARNT2 CL E G H99153157Lachiewicz Sibley syndromeORPHA16216876606036
HP:0000505HP:0000572Visual loss1ARNT2 CL E G H99153157Lachiewicz Sibley syndromeORPHA18416876606036
HP:0000505HP:0100704Cerebral visual impairment1ARX CL E G H170302300004Proud Levine Carpenter syndrome300004C0796124OMIM156518060300382
HP:0000505HP:0100704Cerebral visual impairment1ARX CL E G H170302300004Proud Levine Carpenter syndrome300004C0796124OMIM162418060300382
HP:0000505HP:0007663Reduced visual acuity1ARX CL E G H170302300004Proud Levine Carpenter syndrome300004C0796124OMIM156518060300382
HP:0000505HP:0007663Reduced visual acuity1ARX CL E G H170302300004Proud Levine Carpenter syndrome300004C0796124OMIM162418060300382
HP:0000505HP:0001123Visual field defect1ARX CL E G H170302300004Proud Levine Carpenter syndrome300004C0796124OMIM156518060300382
HP:0000505HP:0001123Visual field defect1ARX CL E G H170302300004Proud Levine Carpenter syndrome300004C0796124OMIM162418060300382
HP:0000505HP:0000572Visual loss1ARX CL E G H170302300004Proud Levine Carpenter syndrome300004C0796124OMIM156518060300382
HP:0000505HP:0000572Visual loss1ARX CL E G H170302300004Proud Levine Carpenter syndrome300004C0796124OMIM162418060300382
HP:0000505HP:0100704Cerebral visual impairment1B3GALNT2 CL E G H148789588ORPHA134328596610194
HP:0000505HP:0100704Cerebral visual impairment1B3GALNT2 CL E G H148789588ORPHA141128596610194
HP:0000505HP:0007663Reduced visual acuity1B3GALNT2 CL E G H148789588ORPHA134328596610194
HP:0000505HP:0007663Reduced visual acuity1B3GALNT2 CL E G H148789588ORPHA141128596610194
HP:0000505HP:0001123Visual field defect1B3GALNT2 CL E G H148789588ORPHA134328596610194
HP:0000505HP:0001123Visual field defect1B3GALNT2 CL E G H148789588ORPHA141128596610194
HP:0000505HP:0000572Visual loss1B3GALNT2 CL E G H148789588ORPHA134328596610194
HP:0000505HP:0000572Visual loss1B3GALNT2 CL E G H148789588ORPHA141128596610194
HP:0000505HP:0100704Cerebral visual impairment1BAZ1B CL E G H9031904Blepharophimosis nasal groove growth retardationORPHA1191961605681
HP:0000505HP:0100704Cerebral visual impairment1BAZ1B CL E G H9031904Blepharophimosis nasal groove growth retardationORPHA1192961605681
HP:0000505HP:0007663Reduced visual acuity1BAZ1B CL E G H9031904Blepharophimosis nasal groove growth retardationORPHA1191961605681
HP:0000505HP:0007663Reduced visual acuity1BAZ1B CL E G H9031904Blepharophimosis nasal groove growth retardationORPHA1192961605681
HP:0000505HP:0001123Visual field defect1BAZ1B CL E G H9031904Blepharophimosis nasal groove growth retardationORPHA1191961605681
HP:0000505HP:0001123Visual field defect1BAZ1B CL E G H9031904Blepharophimosis nasal groove growth retardationORPHA1192961605681
HP:0000505HP:0000572Visual loss1BAZ1B CL E G H9031904Blepharophimosis nasal groove growth retardationORPHA1191961605681
HP:0000505HP:0000572Visual loss1BAZ1B CL E G H9031904Blepharophimosis nasal groove growth retardationORPHA1192961605681
HP:0000505HP:0100704Cerebral visual impairment1BDNF CL E G H627893ORPHA1561033113505
HP:0000505HP:0007663Reduced visual acuity1BDNF CL E G H627893ORPHA1561033113505
HP:0000505HP:0001123Visual field defect1BDNF CL E G H627893ORPHA1561033113505
HP:0000505HP:0000572Visual loss1BDNF CL E G H627893ORPHA1561033113505
HP:0000505HP:0100704Cerebral visual impairment1BEST1 CL E G H7439153700Vitelliform macular dystrophy type 2153700C0339510OMIM149912703607854
HP:0000505HP:0100704Cerebral visual impairment1BEST1 CL E G H7439153700Vitelliform macular dystrophy type 2153700C0339510OMIM159512703607854
HP:0000505HP:0007663Reduced visual acuity1BEST1 CL E G H7439153700Vitelliform macular dystrophy type 2153700C0339510OMIM149912703607854
HP:0000505HP:0007663Reduced visual acuity1BEST1 CL E G H7439153700Vitelliform macular dystrophy type 2153700C0339510OMIM159512703607854
HP:0000505HP:0001123Visual field defect1BEST1 CL E G H7439153700Vitelliform macular dystrophy type 2153700C0339510OMIM149912703607854
HP:0000505HP:0001123Visual field defect1BEST1 CL E G H7439153700Vitelliform macular dystrophy type 2153700C0339510OMIM159512703607854
HP:0000505HP:0000572Visual loss1BEST1 CL E G H7439153700Vitelliform macular dystrophy type 2153700C0339510OMIM149912703607854
HP:0000505HP:0000572Visual loss1BEST1 CL E G H7439153700Vitelliform macular dystrophy type 2153700C0339510OMIM159512703607854
HP:0000505HP:0100704Cerebral visual impairment1BLOC1S3 CL E G H388552614077Hermansky-Pudlak syndrome 8614077C3888026OMIM13520914609762
HP:0000505HP:0100704Cerebral visual impairment1BLOC1S3 CL E G H388552614077Hermansky-Pudlak syndrome 8614077C3888026OMIM16820914609762
HP:0000505HP:0007663Reduced visual acuity1BLOC1S3 CL E G H388552614077Hermansky-Pudlak syndrome 8614077C3888026OMIM13520914609762
HP:0000505HP:0007663Reduced visual acuity1BLOC1S3 CL E G H388552614077Hermansky-Pudlak syndrome 8614077C3888026OMIM16820914609762
HP:0000505HP:0001123Visual field defect1BLOC1S3 CL E G H388552614077Hermansky-Pudlak syndrome 8614077C3888026OMIM13520914609762
HP:0000505HP:0001123Visual field defect1BLOC1S3 CL E G H388552614077Hermansky-Pudlak syndrome 8614077C3888026OMIM16820914609762
HP:0000505HP:0000572Visual loss1BLOC1S3 CL E G H388552614077Hermansky-Pudlak syndrome 8614077C3888026OMIM13520914609762
HP:0000505HP:0000572Visual loss1BLOC1S3 CL E G H388552614077Hermansky-Pudlak syndrome 8614077C3888026OMIM16820914609762
HP:0000505HP:0100704Cerebral visual impairment1C12orf65 CL E G H91574613559Combined oxidative phosphorylation deficiency 7613559C3150801OMIM126784613541
HP:0000505HP:0007663Reduced visual acuity1C12orf65 CL E G H91574613559Combined oxidative phosphorylation deficiency 7613559C3150801OMIM126784613541
HP:0000505HP:0001123Visual field defect1C12orf65 CL E G H91574613559Combined oxidative phosphorylation deficiency 7613559C3150801OMIM126784613541
HP:0000505HP:0000572Visual loss1C12orf65 CL E G H91574613559Combined oxidative phosphorylation deficiency 7613559C3150801OMIM126784613541
HP:0000505HP:0100704Cerebral visual impairment1CA2 CL E G H760259730Osteopetrosis with renal tubular acidosis259730C0345407OMIM11041373611492
HP:0000505HP:0100704Cerebral visual impairment1CA2 CL E G H760259730Osteopetrosis with renal tubular acidosis259730C0345407OMIM11191373611492
HP:0000505HP:0007663Reduced visual acuity1CA2 CL E G H760259730Osteopetrosis with renal tubular acidosis259730C0345407OMIM11041373611492
HP:0000505HP:0007663Reduced visual acuity1CA2 CL E G H760259730Osteopetrosis with renal tubular acidosis259730C0345407OMIM11191373611492
HP:0000505HP:0001123Visual field defect1CA2 CL E G H760259730Osteopetrosis with renal tubular acidosis259730C0345407OMIM11041373611492
HP:0000505HP:0001123Visual field defect1CA2 CL E G H760259730Osteopetrosis with renal tubular acidosis259730C0345407OMIM11191373611492
HP:0000505HP:0000572Visual loss1CA2 CL E G H760259730Osteopetrosis with renal tubular acidosis259730C0345407OMIM11041373611492
HP:0000505HP:0000572Visual loss1CA2 CL E G H760259730Osteopetrosis with renal tubular acidosis259730C0345407OMIM11191373611492
HP:0000505HP:0100704Cerebral visual impairment1CABP4 CL E G H57010610427Congenital stationary night blindness, type 2B610427C1864877OMIM12521386608965
HP:0000505HP:0100704Cerebral visual impairment1CABP4 CL E G H57010610427Congenital stationary night blindness, type 2B610427C1864877OMIM13121386608965
HP:0000505HP:0007663Reduced visual acuity1CABP4 CL E G H57010610427Congenital stationary night blindness, type 2B610427C1864877OMIM12521386608965
HP:0000505HP:0007663Reduced visual acuity1CABP4 CL E G H57010610427Congenital stationary night blindness, type 2B610427C1864877OMIM13121386608965
HP:0000505HP:0001123Visual field defect1CABP4 CL E G H57010610427Congenital stationary night blindness, type 2B610427C1864877OMIM12521386608965
HP:0000505HP:0001123Visual field defect1CABP4 CL E G H57010610427Congenital stationary night blindness, type 2B610427C1864877OMIM13121386608965
HP:0000505HP:0000572Visual loss1CABP4 CL E G H57010610427Congenital stationary night blindness, type 2B610427C1864877OMIM12521386608965
HP:0000505HP:0000572Visual loss1CABP4 CL E G H57010610427Congenital stationary night blindness, type 2B610427C1864877OMIM13121386608965
HP:0000505HP:0100704Cerebral visual impairment1CACNA1F CL E G H778300071Congenital stationary night blindness, type 2A300071C1848172OMIM16581393300110
HP:0000505HP:0100704Cerebral visual impairment1CACNA1F CL E G H778300071Congenital stationary night blindness, type 2A300071C1848172OMIM18181393300110
HP:0000505HP:0007663Reduced visual acuity1CACNA1F CL E G H778300071Congenital stationary night blindness, type 2A300071C1848172OMIM16581393300110
HP:0000505HP:0007663Reduced visual acuity1CACNA1F CL E G H778300071Congenital stationary night blindness, type 2A300071C1848172OMIM18181393300110
HP:0000505HP:0001123Visual field defect1CACNA1F CL E G H778300071Congenital stationary night blindness, type 2A300071C1848172OMIM16581393300110
HP:0000505HP:0001123Visual field defect1CACNA1F CL E G H778300071Congenital stationary night blindness, type 2A300071C1848172OMIM18181393300110
HP:0000505HP:0000572Visual loss1CACNA1F CL E G H778300071Congenital stationary night blindness, type 2A300071C1848172OMIM16581393300110
HP:0000505HP:0000572Visual loss1CACNA1F CL E G H778300071Congenital stationary night blindness, type 2A300071C1848172OMIM18181393300110
HP:0000505HP:0100704Cerebral visual impairment1CACNA2D4 CL E G H93589610478Retinal cone dystrophy 4610478C1864849OMIM159320202608171
HP:0000505HP:0100704Cerebral visual impairment1CACNA2D4 CL E G H93589610478Retinal cone dystrophy 4610478C1864849OMIM175720202608171
HP:0000505HP:0007663Reduced visual acuity1CACNA2D4 CL E G H93589610478Retinal cone dystrophy 4610478C1864849OMIM159320202608171
HP:0000505HP:0007663Reduced visual acuity1CACNA2D4 CL E G H93589610478Retinal cone dystrophy 4610478C1864849OMIM175720202608171
HP:0000505HP:0001123Visual field defect1CACNA2D4 CL E G H93589610478Retinal cone dystrophy 4610478C1864849OMIM159320202608171
HP:0000505HP:0001123Visual field defect1CACNA2D4 CL E G H93589610478Retinal cone dystrophy 4610478C1864849OMIM175720202608171
HP:0000505HP:0000572Visual loss1CACNA2D4 CL E G H93589610478Retinal cone dystrophy 4610478C1864849OMIM159320202608171
HP:0000505HP:0000572Visual loss1CACNA2D4 CL E G H93589610478Retinal cone dystrophy 4610478C1864849OMIM175720202608171
HP:0000505HP:0100704Cerebral visual impairment1CAMK2B CL E G H816617799MENTAL RETARDATION, AUTOSOMAL DOMINANT 54617799C4540484OMIM1881461607707
HP:0000505HP:0100704Cerebral visual impairment1CAMK2B CL E G H816617799MENTAL RETARDATION, AUTOSOMAL DOMINANT 54617799C4540484OMIM11691461607707
HP:0000505HP:0007663Reduced visual acuity1CAMK2B CL E G H816617799MENTAL RETARDATION, AUTOSOMAL DOMINANT 54617799C4540484OMIM1881461607707
HP:0000505HP:0007663Reduced visual acuity1CAMK2B CL E G H816617799MENTAL RETARDATION, AUTOSOMAL DOMINANT 54617799C4540484OMIM11691461607707
HP:0000505HP:0001123Visual field defect1CAMK2B CL E G H816617799MENTAL RETARDATION, AUTOSOMAL DOMINANT 54617799C4540484OMIM1881461607707
HP:0000505HP:0001123Visual field defect1CAMK2B CL E G H816617799MENTAL RETARDATION, AUTOSOMAL DOMINANT 54617799C4540484OMIM11691461607707
HP:0000505HP:0000572Visual loss1CAMK2B CL E G H816617799MENTAL RETARDATION, AUTOSOMAL DOMINANT 54617799C4540484OMIM1881461607707
HP:0000505HP:0000572Visual loss1CAMK2B CL E G H816617799MENTAL RETARDATION, AUTOSOMAL DOMINANT 54617799C4540484OMIM11691461607707
HP:0000505HP:0100704Cerebral visual impairment1CARS2 CL E G H79587616672Combined oxidative phosphorylation deficiency 27616672C4225251OMIM153125695612800
HP:0000505HP:0100704Cerebral visual impairment1CARS2 CL E G H79587616672Combined oxidative phosphorylation deficiency 27616672C4225251OMIM162525695612800
HP:0000505HP:0007663Reduced visual acuity1CARS2 CL E G H79587616672Combined oxidative phosphorylation deficiency 27616672C4225251OMIM153125695612800
HP:0000505HP:0007663Reduced visual acuity1CARS2 CL E G H79587616672Combined oxidative phosphorylation deficiency 27616672C4225251OMIM162525695612800
HP:0000505HP:0001123Visual field defect1CARS2 CL E G H79587616672Combined oxidative phosphorylation deficiency 27616672C4225251OMIM153125695612800
HP:0000505HP:0001123Visual field defect1CARS2 CL E G H79587616672Combined oxidative phosphorylation deficiency 27616672C4225251OMIM162525695612800
HP:0000505HP:0000572Visual loss1CARS2 CL E G H79587616672Combined oxidative phosphorylation deficiency 27616672C4225251OMIM153125695612800
HP:0000505HP:0000572Visual loss1CARS2 CL E G H79587616672Combined oxidative phosphorylation deficiency 27616672C4225251OMIM162525695612800
HP:0000505HP:0100704Cerebral visual impairment1CASK CL E G H8573163937ORPHA15831497300172
HP:0000505HP:0100704Cerebral visual impairment1CASK CL E G H8573163937ORPHA16331497300172
HP:0000505HP:0007663Reduced visual acuity1CASK CL E G H8573163937ORPHA15831497300172
HP:0000505HP:0007663Reduced visual acuity1CASK CL E G H8573163937ORPHA16331497300172
HP:0000505HP:0001123Visual field defect1CASK CL E G H8573163937ORPHA15831497300172
HP:0000505HP:0001123Visual field defect1CASK CL E G H8573163937ORPHA16331497300172
HP:0000505HP:0000572Visual loss1CASK CL E G H8573163937ORPHA15831497300172
HP:0000505HP:0000572Visual loss1CASK CL E G H8573163937ORPHA16331497300172
HP:0000505HP:0100704Cerebral visual impairment1CC2D2A CL E G H575451454Common atrioventricular canalC0221215ORPHA188129253612013
HP:0000505HP:0100704Cerebral visual impairment1CC2D2A CL E G H575451454Common atrioventricular canalC0221215ORPHA1106429253612013
HP:0000505HP:0007663Reduced visual acuity1CC2D2A CL E<