Human Phenotype Ontology 
Grandparent Node:
expand
Abnormality of the eye (HP:0000478)help
Parent Node:
expand
Abnormal eye physiology (HP:0012373)help
..Starting node
..expand
Abnormality of vision (HP:0000504)help
Term ID: 504
Name: Abnormality of vision
Synonym: Abnormality of sight; Abnormality of vision; Vision issue
Definition: Abnormality of eyesight (visual perception).
Comments:
Reference: HP:0000504
Genes and Diseases:
 
       Child Nodes:
........expandVisual impairment (HP:0000505) help
................... HP:0000618 Blindness
................... HP:0001141 Severe visual impairment
................... HP:0007758 Congenital visual impairment
................... HP:0030515 Moderate visual impairment
................... HP:0100704 Cortical visual impairment
........expandAbnormality of color vision (HP:0000551) help
................... HP:0007641 Dyschromatopsia
................... HP:0007803 Monochromacy
................... HP:0030584 Color vision test abnormality
........expandVisual loss (HP:0000572) help
................... HP:0000529 Progressive visual loss
................... HP:0200068 Nonprogressive visual loss
........expandPhotophobia (HP:0000613) help
........expandBlurred vision (HP:0000622) help
................... HP:0001125 Transient unilateral blurring of vision
........expandNyctalopia (HP:0000662) help
................... HP:0007642 Congenital stationary night blindness
................... HP:0007675 Progressive night blindness
................... HP:0007830 Adult-onset night blindness
........expandVisual field defect (HP:0001123) help
................... HP:0000575 Scotoma
................... HP:0001129 Large central visual field defect
................... HP:0001133 Constriction of peripheral visual field
................... HP:0007854 Glaucomatous visual field defect
................... HP:0007987 Progressive visual field defects
................... HP:0012377 Hemianopia
................... HP:0030531 Altitudinal visual field defect
................... HP:0030588 Abnormal visual field test
................... HP:0030644 Blind-spot enlargment
........expandReduced visual acuity (HP:0007663) help
................... HP:0000646 Amblyopia
................... HP:0001117 Sudden loss of visual acuity
................... HP:0030532 Visual acuity test abnormality
........expandAbnormality of binocular vision (HP:0011514) help
................... HP:0000651 Diplopia
................... HP:0011515 Abnormal stereopsis
........expandHemeralopia (HP:0012047) help
........expandMetamorphopsia (HP:0012508) help
........expandPoor visual behavior for age (HP:0025152) help
........expandBradyopsia (HP:0030511) help
........expandDifficulty adjusting to changes in luminance (HP:0030512) help
................... HP:0030513 Difficulty adjusting from light to dark
................... HP:0030514 Difficulty adjusting from dark to light
........expandPhotopsia (HP:0030786) help
........expandAmaurosis fugax (HP:0100576) help
........expandVitreous floaters (HP:0100832) help
................... HP:0030832 Vitreous strands

 Sister Nodes: 
..expandAbnormal extraocular muscle physiology (HP:0025590) help
..expandAbnormal eyelid physiology (HP:0031879) help
..expandAbnormal intraocular pressure (HP:0012632) help
..expandAbnormal pupillary function (HP:0007686) help
..expandAbnormal visual accommodation (HP:0030800) help
..expandAbnormal visual electrophysiology (HP:0030453) help
..expandAbnormality of eye movement (HP:0000496) help
..expandAbnormality of refraction (HP:0000539) help
..expandAsthenopia (HP:0031590) help
..expandCongenital stationary cone dysfunction (HP:0030637) help
..expandGlaucoma (HP:0000501) help
..expandHemorrhage of the eye (HP:0011885) help
..expandInflammatory abnormality of the eye (HP:0100533) help
..expandLacrimation abnormality (HP:0000632) help
..expandOcular pain (HP:0200026) help
..expandPtosis (HP:0000508) help
..expandStaring gaze (HP:0025401) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0000504HP:0000504Abnormality of vision0ALG3 CL E G H1019579321ORPHA11915723056608750
HP:0000504HP:0000504Abnormality of vision0ARID1B CL E G H57492251056ORPHA118881518040614556
HP:0000504HP:0000504Abnormality of vision0BRAF CL E G H6731340Chromosome 4, monosomy 4qC0265404ORPHA1685991097164757
HP:0000504HP:0000504Abnormality of vision0BUB1 CL E G H6991052Mosaic variegated aneuploidy syndromeC1850343ORPHA120861148602452
HP:0000504HP:0000504Abnormality of vision0BUB1B CL E G H7011052Mosaic variegated aneuploidy syndromeC1850343ORPHA1294991149602860
HP:0000504HP:0000504Abnormality of vision0BUB3 CL E G H91841052Mosaic variegated aneuploidy syndromeC1850343ORPHA16511151603719
HP:0000504HP:0000504Abnormality of vision0CDH1 CL E G H9991997ORPHA126427971748192090
HP:0000504HP:0000504Abnormality of vision0CDH3 CL E G H10011897ORPHA1314061762114021
HP:0000504HP:0000504Abnormality of vision0CEP57 CL E G H97021052Mosaic variegated aneuploidy syndromeC1850343ORPHA1521230794607951
HP:0000504HP:0000504Abnormality of vision0CTNND1 CL E G H15001997ORPHA117512515601045
HP:0000504HP:0000504Abnormality of vision0CTSH CL E G H15122073ORPHA11272535116820
HP:0000504HP:0000504Abnormality of vision0CYP27A1 CL E G H1593909ORPHA11164392605606530
HP:0000504HP:0000504Abnormality of vision0DPM1 CL E G H881379322ORPHA191553005603503
HP:0000504HP:0000504Abnormality of vision0DPYD CL E G H1806293948ORPHA11243313012612779
HP:0000504HP:0000504Abnormality of vision0EDN3 CL E G H1908897ORPHA1211333178131242
HP:0000504HP:0000504Abnormality of vision0EDNRB CL E G H1910897ORPHA1702183180131244
HP:0000504HP:0000504Abnormality of vision0FOXE3 CL E G H230183461ORPHA1311463808601094
HP:0000504HP:0000504Abnormality of vision0HCRT CL E G H30602073ORPHA1294847602358
HP:0000504HP:0000504Abnormality of vision0HGD CL E G H308156ORPHA11382094892607474
HP:0000504HP:0000504Abnormality of vision0HLA-DQB1 CL E G H31192073ORPHA115124944604305
HP:0000504HP:0000504Abnormality of vision0HLA-DRB1 CL E G H31232073ORPHA126244948142857
HP:0000504HP:0000504Abnormality of vision0HRAS CL E G H32652612Heart defect, tongue hamartoma and polysyndactylyORPHA1344065173190020
HP:0000504HP:0000504Abnormality of vision0KCNQ2 CL E G H3785306ORPHA131413386296602235
HP:0000504HP:0000504Abnormality of vision0KCNQ3 CL E G H3786306ORPHA1258666297602232
HP:0000504HP:0000504Abnormality of vision0KRAS CL E G H38451340Chromosome 4, monosomy 4qC0265404ORPHA1453296407190070
HP:0000504HP:0000504Abnormality of vision0KRAS CL E G H38452612Heart defect, tongue hamartoma and polysyndactylyORPHA1453296407190070
HP:0000504HP:0000504Abnormality of vision0LIFR CL E G H39773206ORPHA1325486597151443
HP:0000504HP:0000504Abnormality of vision0MAP2K1 CL E G H56041340Chromosome 4, monosomy 4qC0265404ORPHA1232896840176872
HP:0000504HP:0000504Abnormality of vision0MAP2K2 CL E G H56051340Chromosome 4, monosomy 4qC0265404ORPHA1354466842601263
HP:0000504HP:0000504Abnormality of vision0MOG CL E G H43402073ORPHA12157197159465
HP:0000504HP:0000504Abnormality of vision0MPDU1 CL E G H952679323ORPHA17937207604041
HP:0000504HP:0000504Abnormality of vision0NRAS CL E G H48932612Heart defect, tongue hamartoma and polysyndactylyORPHA1142067989164790
HP:0000504HP:0000504Abnormality of vision0P2RY11 CL E G H50322073ORPHA112318540602697
HP:0000504HP:0000504Abnormality of vision0PAX3 CL E G H5077894ORPHA11532458617606597
HP:0000504HP:0000504Abnormality of vision0PAX6 CL E G H50802253ORPHA15715708620607108
HP:0000504HP:0000504Abnormality of vision0PLG CL E G H5340722ORPHA1781579071173350
HP:0000504HP:0000504Abnormality of vision0PRRT2 CL E G H112476306ORPHA110558930500614386
HP:0000504HP:0000504Abnormality of vision0RS1 CL E G H6247792ORPHA127954810457300839
HP:0000504HP:0000504Abnormality of vision0SCN2A CL E G H6326306ORPHA1268142210588182390
HP:0000504HP:0000504Abnormality of vision0SCN8A CL E G H6334306ORPHA1103107410596600702
HP:0000504HP:0000504Abnormality of vision0SHH CL E G H6469611638Microphthalmia, isolated, with coloboma 5611638C1968843OMIM122123110848600725
HP:0000504HP:0000504Abnormality of vision0SLC25A24 CL E G H299572095ORPHA126920662608744
HP:0000504HP:0000504Abnormality of vision0SOX10 CL E G H6663897ORPHA115123611190602229
HP:0000504HP:0000504Abnormality of vision0TNFSF4 CL E G H72922073ORPHA173411934603594
HP:0000504HP:0000504Abnormality of vision0TRIP13 CL E G H93191052Mosaic variegated aneuploidy syndromeC1850343ORPHA1221312307604507
HP:0000504HP:0000504Abnormality of vision0VPS13A CL E G H232302388ORPHA111612301908605978
HP:0000504HP:0000504Abnormality of vision0ZNF365 CL E G H228912073ORPHA124518194607818
HP:0000504HP:0000504Abnormality of vision1ALG3 CL E G H1019579321ORPHA11915723056608750
HP:0000504HP:0000504Abnormality of vision1ARID1B CL E G H57492251056ORPHA118881518040614556
HP:0000504HP:0000504Abnormality of vision1BRAF CL E G H6731340Chromosome 4, monosomy 4qC0265404ORPHA1685991097164757
HP:0000504HP:0000504Abnormality of vision1BUB1 CL E G H6991052Mosaic variegated aneuploidy syndromeC1850343ORPHA120861148602452
HP:0000504HP:0000504Abnormality of vision1BUB1B CL E G H7011052Mosaic variegated aneuploidy syndromeC1850343ORPHA1294991149602860
HP:0000504HP:0000504Abnormality of vision1BUB3 CL E G H91841052Mosaic variegated aneuploidy syndromeC1850343ORPHA16511151603719
HP:0000504HP:0000504Abnormality of vision1CDH1 CL E G H9991997ORPHA126427971748192090
HP:0000504HP:0000504Abnormality of vision1CDH3 CL E G H10011897ORPHA1314061762114021
HP:0000504HP:0000504Abnormality of vision1CEP57 CL E G H97021052Mosaic variegated aneuploidy syndromeC1850343ORPHA1521230794607951
HP:0000504HP:0000504Abnormality of vision1CTNND1 CL E G H15001997ORPHA117512515601045
HP:0000504HP:0000504Abnormality of vision1CTSH CL E G H15122073ORPHA11272535116820
HP:0000504HP:0000504Abnormality of vision1CYP27A1 CL E G H1593909ORPHA11164392605606530
HP:0000504HP:0000504Abnormality of vision1DPM1 CL E G H881379322ORPHA191553005603503
HP:0000504HP:0000504Abnormality of vision1DPYD CL E G H1806293948ORPHA11243313012612779
HP:0000504HP:0000504Abnormality of vision1EDN3 CL E G H1908897ORPHA1211333178131242
HP:0000504HP:0000504Abnormality of vision1EDNRB CL E G H1910897ORPHA1702183180131244
HP:0000504HP:0000504Abnormality of vision1FOXE3 CL E G H230183461ORPHA1311463808601094
HP:0000504HP:0000504Abnormality of vision1HCRT CL E G H30602073ORPHA1294847602358
HP:0000504HP:0000504Abnormality of vision1HGD CL E G H308156ORPHA11382094892607474
HP:0000504HP:0000504Abnormality of vision1HLA-DQB1 CL E G H31192073ORPHA115124944604305
HP:0000504HP:0000504Abnormality of vision1HLA-DRB1 CL E G H31232073ORPHA126244948142857
HP:0000504HP:0000504Abnormality of vision1HRAS CL E G H32652612Heart defect, tongue hamartoma and polysyndactylyORPHA1344065173190020
HP:0000504HP:0000504Abnormality of vision1KCNQ2 CL E G H3785306ORPHA131413386296602235
HP:0000504HP:0000504Abnormality of vision1KCNQ3 CL E G H3786306ORPHA1258666297602232
HP:0000504HP:0000504Abnormality of vision1KRAS CL E G H38451340Chromosome 4, monosomy 4qC0265404ORPHA1453296407190070
HP:0000504HP:0000504Abnormality of vision1KRAS CL E G H38452612Heart defect, tongue hamartoma and polysyndactylyORPHA1453296407190070
HP:0000504HP:0000504Abnormality of vision1LIFR CL E G H39773206ORPHA1325486597151443
HP:0000504HP:0000504Abnormality of vision1MAP2K1 CL E G H56041340Chromosome 4, monosomy 4qC0265404ORPHA1232896840176872
HP:0000504HP:0000504Abnormality of vision1MAP2K2 CL E G H56051340Chromosome 4, monosomy 4qC0265404ORPHA1354466842601263
HP:0000504HP:0000504Abnormality of vision1MOG CL E G H43402073ORPHA12157197159465
HP:0000504HP:0000504Abnormality of vision1MPDU1 CL E G H952679323ORPHA17937207604041
HP:0000504HP:0000504Abnormality of vision1NRAS CL E G H48932612Heart defect, tongue hamartoma and polysyndactylyORPHA1142067989164790
HP:0000504HP:0000504Abnormality of vision1P2RY11 CL E G H50322073ORPHA112318540602697
HP:0000504HP:0000504Abnormality of vision1PAX3 CL E G H5077894ORPHA11532458617606597
HP:0000504HP:0000504Abnormality of vision1PAX6 CL E G H50802253ORPHA15715708620607108
HP:0000504HP:0000504Abnormality of vision1PLG CL E G H5340722ORPHA1781579071173350
HP:0000504HP:0000504Abnormality of vision1PRRT2 CL E G H112476306ORPHA110558930500614386
HP:0000504HP:0000504Abnormality of vision1RS1 CL E G H6247792ORPHA127954810457300839
HP:0000504HP:0000504Abnormality of vision1SCN2A CL E G H6326306ORPHA1268142210588182390
HP:0000504HP:0000504Abnormality of vision1SCN8A CL E G H6334306ORPHA1103107410596600702
HP:0000504HP:0000504Abnormality of vision1SHH CL E G H6469611638Microphthalmia, isolated, with coloboma 5611638C1968843OMIM122123110848600725
HP:0000504HP:0000504Abnormality of vision1SLC25A24 CL E G H299572095ORPHA126920662608744
HP:0000504HP:0000504Abnormality of vision1SOX10 CL E G H6663897ORPHA115123611190602229
HP:0000504HP:0000504Abnormality of vision1TNFSF4 CL E G H72922073ORPHA173411934603594
HP:0000504HP:0000504Abnormality of vision1TRIP13 CL E G H93191052Mosaic variegated aneuploidy syndromeC1850343ORPHA1221312307604507
HP:0000504HP:0000504Abnormality of vision1VPS13A CL E G H232302388ORPHA111612301908605978
HP:0000504HP:0000504Abnormality of vision1ZNF365 CL E G H228912073ORPHA124518194607818
HP:0000504HP:0000504Abnormality of vision2ALG3 CL E G H1019579321ORPHA11915723056608750
HP:0000504HP:0000504Abnormality of vision2ARID1B CL E G H57492251056ORPHA118881518040614556
HP:0000504HP:0000504Abnormality of vision2BRAF CL E G H6731340Chromosome 4, monosomy 4qC0265404ORPHA1685991097164757
HP:0000504HP:0000504Abnormality of vision2BUB1 CL E G H6991052Mosaic variegated aneuploidy syndromeC1850343ORPHA120861148602452
HP:0000504HP:0000504Abnormality of vision2BUB1B CL E G H7011052Mosaic variegated aneuploidy syndromeC1850343ORPHA1294991149602860
HP:0000504HP:0000504Abnormality of vision2BUB3 CL E G H91841052Mosaic variegated aneuploidy syndromeC1850343ORPHA16511151603719
HP:0000504HP:0000504Abnormality of vision2CDH1 CL E G H9991997ORPHA126427971748192090
HP:0000504HP:0000504Abnormality of vision2CDH3 CL E G H10011897ORPHA1314061762114021
HP:0000504HP:0000504Abnormality of vision2CEP57 CL E G H97021052Mosaic variegated aneuploidy syndromeC1850343ORPHA1521230794607951
HP:0000504HP:0000504Abnormality of vision2CTNND1 CL E G H15001997ORPHA117512515601045
HP:0000504HP:0000504Abnormality of vision2CTSH CL E G H15122073ORPHA11272535116820
HP:0000504HP:0000504Abnormality of vision2CYP27A1 CL E G H1593909ORPHA11164392605606530
HP:0000504HP:0000504Abnormality of vision2DPM1 CL E G H881379322ORPHA191553005603503
HP:0000504HP:0000504Abnormality of vision2DPYD CL E G H1806293948ORPHA11243313012612779
HP:0000504HP:0000504Abnormality of vision2EDN3 CL E G H1908897ORPHA1211333178131242
HP:0000504HP:0000504Abnormality of vision2EDNRB CL E G H1910897ORPHA1702183180131244
HP:0000504HP:0000504Abnormality of vision2FOXE3 CL E G H230183461ORPHA1311463808601094
HP:0000504HP:0000504Abnormality of vision2HCRT CL E G H30602073ORPHA1294847602358
HP:0000504HP:0000504Abnormality of vision2HGD CL E G H308156ORPHA11382094892607474
HP:0000504HP:0000504Abnormality of vision2HLA-DQB1 CL E G H31192073ORPHA115124944604305
HP:0000504HP:0000504Abnormality of vision2HLA-DRB1 CL E G H31232073ORPHA126244948142857
HP:0000504HP:0000504Abnormality of vision2HRAS CL E G H32652612Heart defect, tongue hamartoma and polysyndactylyORPHA1344065173190020
HP:0000504HP:0000504Abnormality of vision2KCNQ2 CL E G H3785306ORPHA131413386296602235
HP:0000504HP:0000504Abnormality of vision2KCNQ3 CL E G H3786306ORPHA1258666297602232
HP:0000504HP:0000504Abnormality of vision2KRAS CL E G H38451340Chromosome 4, monosomy 4qC0265404ORPHA1453296407190070
HP:0000504HP:0000504Abnormality of vision2KRAS CL E G H38452612Heart defect, tongue hamartoma and polysyndactylyORPHA1453296407190070
HP:0000504HP:0000504Abnormality of vision2LIFR CL E G H39773206ORPHA1325486597151443
HP:0000504HP:0000504Abnormality of vision2MAP2K1 CL E G H56041340Chromosome 4, monosomy 4qC0265404ORPHA1232896840176872
HP:0000504HP:0000504Abnormality of vision2MAP2K2 CL E G H56051340Chromosome 4, monosomy 4qC0265404ORPHA1354466842601263
HP:0000504HP:0000504Abnormality of vision2MOG CL E G H43402073ORPHA12157197159465
HP:0000504HP:0000504Abnormality of vision2MPDU1 CL E G H952679323ORPHA17937207604041
HP:0000504HP:0000504Abnormality of vision2NRAS CL E G H48932612Heart defect, tongue hamartoma and polysyndactylyORPHA1142067989164790
HP:0000504HP:0000504Abnormality of vision2P2RY11 CL E G H50322073ORPHA112318540602697
HP:0000504HP:0000504Abnormality of vision2PAX3 CL E G H5077894ORPHA11532458617606597
HP:0000504HP:0000504Abnormality of vision2PAX6 CL E G H50802253ORPHA15715708620607108
HP:0000504HP:0000504Abnormality of vision2PLG CL E G H5340722ORPHA1781579071173350
HP:0000504HP:0000504Abnormality of vision2PRRT2 CL E G H112476306ORPHA110558930500614386
HP:0000504HP:0000504Abnormality of vision2RS1 CL E G H6247792ORPHA127954810457300839
HP:0000504HP:0000504Abnormality of vision2SCN2A CL E G H6326306ORPHA1268142210588182390
HP:0000504HP:0000504Abnormality of vision2SCN8A CL E G H6334306ORPHA1103107410596600702
HP:0000504HP:0000504Abnormality of vision2SHH CL E G H6469611638Microphthalmia, isolated, with coloboma 5611638C1968843OMIM122123110848600725
HP:0000504HP:0000504Abnormality of vision2SLC25A24 CL E G H299572095ORPHA126920662608744
HP:0000504HP:0000504Abnormality of vision2SOX10 CL E G H6663897ORPHA115123611190602229
HP:0000504HP:0000504Abnormality of vision2TNFSF4 CL E G H72922073ORPHA173411934603594
HP:0000504HP:0000504Abnormality of vision2TRIP13 CL E G H93191052Mosaic variegated aneuploidy syndromeC1850343ORPHA1221312307604507
HP:0000504HP:0000504Abnormality of vision2VPS13A CL E G H232302388ORPHA111612301908605978
HP:0000504HP:0000504Abnormality of vision2ZNF365 CL E G H228912073ORPHA124518194607818
HP:0000504HP:0000504Abnormality of vision3ALG3 CL E G H1019579321ORPHA11915723056608750
HP:0000504HP:0000504Abnormality of vision3ARID1B CL E G H57492251056ORPHA118881518040614556
HP:0000504HP:0000504Abnormality of vision3BRAF CL E G H6731340Chromosome 4, monosomy 4qC0265404ORPHA1685991097164757
HP:0000504HP:0000504Abnormality of vision3BUB1 CL E G H6991052Mosaic variegated aneuploidy syndromeC1850343ORPHA120861148602452
HP:0000504HP:0000504Abnormality of vision3BUB1B CL E G H7011052Mosaic variegated aneuploidy syndromeC1850343ORPHA1294991149602860
HP:0000504HP:0000504Abnormality of vision3BUB3 CL E G H91841052Mosaic variegated aneuploidy syndromeC1850343ORPHA16511151603719
HP:0000504HP:0000504Abnormality of vision3CDH1 CL E G H9991997ORPHA126427971748192090
HP:0000504HP:0000504Abnormality of vision3CDH3 CL E G H10011897ORPHA1314061762114021
HP:0000504HP:0000504Abnormality of vision3CEP57 CL E G H97021052Mosaic variegated aneuploidy syndromeC1850343ORPHA1521230794607951
HP:0000504HP:0000504Abnormality of vision3CTNND1 CL E G H15001997ORPHA117512515601045
HP:0000504HP:0000504Abnormality of vision3CTSH CL E G H15122073ORPHA11272535116820
HP:0000504HP:0000504Abnormality of vision3CYP27A1 CL E G H1593909ORPHA11164392605606530
HP:0000504HP:0000504Abnormality of vision3DPM1 CL E G H881379322ORPHA191553005603503
HP:0000504HP:0000504Abnormality of vision3DPYD CL E G H1806293948ORPHA11243313012612779
HP:0000504HP:0000504Abnormality of vision3EDN3 CL E G H1908897ORPHA1211333178131242
HP:0000504HP:0000504Abnormality of vision3EDNRB CL E G H1910897ORPHA1702183180131244
HP:0000504HP:0000504Abnormality of vision3FOXE3 CL E G H230183461ORPHA1311463808601094
HP:0000504HP:0000504Abnormality of vision3HCRT CL E G H30602073ORPHA1294847602358
HP:0000504HP:0000504Abnormality of vision3HGD CL E G H308156ORPHA11382094892607474
HP:0000504HP:0000504Abnormality of vision3HLA-DQB1 CL E G H31192073ORPHA115124944604305
HP:0000504HP:0000504Abnormality of vision3HLA-DRB1 CL E G H31232073ORPHA126244948142857
HP:0000504HP:0000504Abnormality of vision3HRAS CL E G H32652612Heart defect, tongue hamartoma and polysyndactylyORPHA1344065173190020
HP:0000504HP:0000504Abnormality of vision3KCNQ2 CL E G H3785306ORPHA131413386296602235
HP:0000504HP:0000504Abnormality of vision3KCNQ3 CL E G H3786306ORPHA1258666297602232
HP:0000504HP:0000504Abnormality of vision3KRAS CL E G H38451340Chromosome 4, monosomy 4qC0265404ORPHA1453296407190070
HP:0000504HP:0000504Abnormality of vision3KRAS CL E G H38452612Heart defect, tongue hamartoma and polysyndactylyORPHA1453296407190070
HP:0000504HP:0000504Abnormality of vision3LIFR CL E G H39773206ORPHA1325486597151443
HP:0000504HP:0000504Abnormality of vision3MAP2K1 CL E G H56041340Chromosome 4, monosomy 4qC0265404ORPHA1232896840176872
HP:0000504HP:0000504Abnormality of vision3MAP2K2 CL E G H56051340Chromosome 4, monosomy 4qC0265404ORPHA1354466842601263
HP:0000504HP:0000504Abnormality of vision3MOG CL E G H43402073ORPHA12157197159465
HP:0000504HP:0000504Abnormality of vision3MPDU1 CL E G H952679323ORPHA17937207604041
HP:0000504HP:0000504Abnormality of vision3NRAS CL E G H48932612Heart defect, tongue hamartoma and polysyndactylyORPHA1142067989164790
HP:0000504HP:0000504Abnormality of vision3P2RY11 CL E G H50322073ORPHA112318540602697
HP:0000504HP:0000504Abnormality of vision3PAX3 CL E G H5077894ORPHA11532458617606597
HP:0000504HP:0000504Abnormality of vision3PAX6 CL E G H50802253ORPHA15715708620607108
HP:0000504HP:0000504Abnormality of vision3PLG CL E G H5340722ORPHA1781579071173350
HP:0000504HP:0000504Abnormality of vision3PRRT2 CL E G H112476306ORPHA110558930500614386
HP:0000504HP:0000504Abnormality of vision3RS1 CL E G H6247792ORPHA127954810457300839
HP:0000504HP:0000504Abnormality of vision3SCN2A CL E G H6326306ORPHA1268142210588182390
HP:0000504HP:0000504Abnormality of vision3SCN8A CL E G H6334306ORPHA1103107410596600702
HP:0000504HP:0000504Abnormality of vision3SHH CL E G H6469611638Microphthalmia, isolated, with coloboma 5611638C1968843OMIM122123110848600725
HP:0000504HP:0000504Abnormality of vision3SLC25A24 CL E G H299572095ORPHA126920662608744
HP:0000504HP:0000504Abnormality of vision3SOX10 CL E G H6663897ORPHA115123611190602229
HP:0000504HP:0000504Abnormality of vision3TNFSF4 CL E G H72922073ORPHA173411934603594
HP:0000504HP:0000504Abnormality of vision3TRIP13 CL E G H93191052Mosaic variegated aneuploidy syndromeC1850343ORPHA1221312307604507
HP:0000504HP:0000504Abnormality of vision3VPS13A CL E G H232302388ORPHA111612301908605978
HP:0000504HP:0000504Abnormality of vision3ZNF365 CL E G H228912073ORPHA124518194607818
HP:0000504HP:0000504Abnormality of vision4ALG3 CL E G H1019579321ORPHA11915723056608750
HP:0000504HP:0000504Abnormality of vision4ARID1B CL E G H57492251056ORPHA118881518040614556
HP:0000504HP:0000504Abnormality of vision4BRAF CL E G H6731340Chromosome 4, monosomy 4qC0265404ORPHA1685991097164757
HP:0000504HP:0000504Abnormality of vision4BUB1 CL E G H6991052Mosaic variegated aneuploidy syndromeC1850343ORPHA120861148602452
HP:0000504HP:0000504Abnormality of vision4BUB1B CL E G H7011052Mosaic variegated aneuploidy syndromeC1850343ORPHA1294991149602860
HP:0000504HP:0000504Abnormality of vision4BUB3 CL E G H91841052Mosaic variegated aneuploidy syndromeC1850343ORPHA16511151603719
HP:0000504HP:0000504Abnormality of vision4CDH1 CL E G H9991997ORPHA126427971748192090
HP:0000504HP:0000504Abnormality of vision4CDH3 CL E G H10011897ORPHA1314061762114021
HP:0000504HP:0000504Abnormality of vision4CEP57 CL E G H97021052Mosaic variegated aneuploidy syndromeC1850343ORPHA1521230794607951
HP:0000504HP:0000504Abnormality of vision4CTNND1 CL E G H15001997ORPHA117512515601045
HP:0000504HP:0000504Abnormality of vision4CTSH CL E G H15122073ORPHA11272535116820
HP:0000504HP:0000504Abnormality of vision4CYP27A1 CL E G H1593909ORPHA11164392605606530
HP:0000504HP:0000504Abnormality of vision4DPM1 CL E G H881379322ORPHA191553005603503
HP:0000504HP:0000504Abnormality of vision4DPYD CL E G H1806293948ORPHA11243313012612779
HP:0000504HP:0000504Abnormality of vision4EDN3 CL E G H1908897ORPHA1211333178131242
HP:0000504HP:0000504Abnormality of vision4EDNRB CL E G H1910897ORPHA1702183180131244
HP:0000504HP:0000504Abnormality of vision4FOXE3 CL E G H230183461ORPHA1311463808601094
HP:0000504HP:0000504Abnormality of vision4HCRT CL E G H30602073ORPHA1294847602358
HP:0000504HP:0000504Abnormality of vision4HGD CL E G H308156ORPHA11382094892607474
HP:0000504HP:0000504Abnormality of vision4HLA-DQB1 CL E G H31192073ORPHA115124944604305
HP:0000504HP:0000504Abnormality of vision4HLA-DRB1 CL E G H31232073ORPHA126244948142857
HP:0000504HP:0000504Abnormality of vision4HRAS CL E G H32652612Heart defect, tongue hamartoma and polysyndactylyORPHA1344065173190020
HP:0000504HP:0000504Abnormality of vision4KCNQ2 CL E G H3785306ORPHA131413386296602235
HP:0000504HP:0000504Abnormality of vision4KCNQ3 CL E G H3786306ORPHA1258666297602232
HP:0000504HP:0000504Abnormality of vision4KRAS CL E G H38451340Chromosome 4, monosomy 4qC0265404ORPHA1453296407190070
HP:0000504HP:0000504Abnormality of vision4KRAS CL E G H38452612Heart defect, tongue hamartoma and polysyndactylyORPHA1453296407190070
HP:0000504HP:0000504Abnormality of vision4LIFR CL E G H39773206ORPHA1325486597151443
HP:0000504HP:0000504Abnormality of vision4MAP2K1 CL E G H56041340Chromosome 4, monosomy 4qC0265404ORPHA1232896840176872
HP:0000504HP:0000504Abnormality of vision4MAP2K2 CL E G H56051340Chromosome 4, monosomy 4qC0265404ORPHA1354466842601263
HP:0000504HP:0000504Abnormality of vision4MOG CL E G H43402073ORPHA12157197159465
HP:0000504HP:0000504Abnormality of vision4MPDU1 CL E G H952679323ORPHA17937207604041
HP:0000504HP:0000504Abnormality of vision4NRAS CL E G H48932612Heart defect, tongue hamartoma and polysyndactylyORPHA1142067989164790
HP:0000504HP:0000504Abnormality of vision4P2RY11 CL E G H50322073ORPHA112318540602697
HP:0000504HP:0000504Abnormality of vision4PAX3 CL E G H5077894ORPHA11532458617606597
HP:0000504HP:0000504Abnormality of vision4PAX6 CL E G H50802253ORPHA15715708620607108
HP:0000504HP:0000504Abnormality of vision4PLG CL E G H5340722ORPHA1781579071173350
HP:0000504HP:0000504Abnormality of vision4PRRT2 CL E G H112476306ORPHA110558930500614386
HP:0000504HP:0000504Abnormality of vision4RS1 CL E G H6247792ORPHA127954810457300839
HP:0000504HP:0000504Abnormality of vision4SCN2A CL E G H6326306ORPHA1268142210588182390
HP:0000504HP:0000504Abnormality of vision4SCN8A CL E G H6334306ORPHA1103107410596600702
HP:0000504HP:0000504Abnormality of vision4SHH CL E G H6469611638Microphthalmia, isolated, with coloboma 5611638C1968843OMIM122123110848600725
HP:0000504HP:0000504Abnormality of vision4SLC25A24 CL E G H299572095ORPHA126920662608744
HP:0000504HP:0000504Abnormality of vision4SOX10 CL E G H6663897ORPHA115123611190602229
HP:0000504HP:0000504Abnormality of vision4TNFSF4 CL E G H72922073ORPHA173411934603594
HP:0000504HP:0000504Abnormality of vision4TRIP13 CL E G H93191052Mosaic variegated aneuploidy syndromeC1850343ORPHA1221312307604507
HP:0000504HP:0000504Abnormality of vision4VPS13A CL E G H232302388ORPHA111612301908605978
HP:0000504HP:0000504Abnormality of vision4ZNF365 CL E G H228912073ORPHA124518194607818
HP:0000504HP:0000504Abnormality of vision5ALG3 CL E G H1019579321ORPHA11915723056608750
HP:0000504HP:0000504Abnormality of vision5ARID1B CL E G H57492251056ORPHA118881518040614556
HP:0000504HP:0000504Abnormality of vision5BRAF CL E G H6731340Chromosome 4, monosomy 4qC0265404ORPHA1685991097164757
HP:0000504HP:0000504Abnormality of vision5BUB1 CL E G H6991052Mosaic variegated aneuploidy syndromeC1850343ORPHA120861148602452
HP:0000504HP:0000504Abnormality of vision5BUB1B CL E G H7011052Mosaic variegated aneuploidy syndromeC1850343ORPHA1294991149602860
HP:0000504HP:0000504Abnormality of vision5BUB3 CL E G H91841052Mosaic variegated aneuploidy syndromeC1850343ORPHA16511151603719
HP:0000504HP:0000504Abnormality of vision5CDH1 CL E G H9991997ORPHA126427971748192090
HP:0000504HP:0000504Abnormality of vision5CDH3 CL E G H10011897ORPHA1314061762114021
HP:0000504HP:0000504Abnormality of vision5CEP57 CL E G H97021052Mosaic variegated aneuploidy syndromeC1850343ORPHA1521230794607951
HP:0000504HP:0000504Abnormality of vision5CTNND1 CL E G H15001997ORPHA117512515601045
HP:0000504HP:0000504Abnormality of vision5CTSH CL E G H15122073ORPHA11272535116820
HP:0000504HP:0000504Abnormality of vision5CYP27A1 CL E G H1593909ORPHA11164392605606530
HP:0000504HP:0000504Abnormality of vision5DPM1 CL E G H881379322ORPHA191553005603503
HP:0000504HP:0000504Abnormality of vision5DPYD CL E G H1806293948ORPHA11243313012612779
HP:0000504HP:0000504Abnormality of vision5EDN3 CL E G H1908897ORPHA1211333178131242
HP:0000504HP:0000504Abnormality of vision5EDNRB CL E G H1910897ORPHA1702183180131244
HP:0000504HP:0000504Abnormality of vision5FOXE3 CL E G H230183461ORPHA1311463808601094
HP:0000504HP:0000504Abnormality of vision5HCRT CL E G H30602073ORPHA1294847602358
HP:0000504HP:0000504Abnormality of vision5HGD CL E G H308156ORPHA11382094892607474
HP:0000504HP:0000504Abnormality of vision5HLA-DQB1 CL E G H31192073ORPHA115124944604305
HP:0000504HP:0000504Abnormality of vision5HLA-DRB1 CL E G H31232073ORPHA126244948142857
HP:0000504HP:0000504Abnormality of vision5HRAS CL E G H32652612Heart defect, tongue hamartoma and polysyndactylyORPHA1344065173190020
HP:0000504HP:0000504Abnormality of vision5KCNQ2 CL E G H3785306ORPHA131413386296602235
HP:0000504HP:0000504Abnormality of vision5KCNQ3 CL E G H3786306ORPHA1258666297602232
HP:0000504HP:0000504Abnormality of vision5KRAS CL E G H38451340Chromosome 4, monosomy 4qC0265404ORPHA1453296407190070
HP:0000504HP:0000504Abnormality of vision5KRAS CL E G H38452612Heart defect, tongue hamartoma and polysyndactylyORPHA1453296407190070
HP:0000504HP:0000504Abnormality of vision5LIFR CL E G H39773206ORPHA1325486597151443
HP:0000504HP:0000504Abnormality of vision5MAP2K1 CL E G H56041340Chromosome 4, monosomy 4qC0265404ORPHA1232896840176872
HP:0000504HP:0000504Abnormality of vision5MAP2K2 CL E G H56051340Chromosome 4, monosomy 4qC0265404ORPHA1354466842601263
HP:0000504HP:0000504Abnormality of vision5MOG CL E G H43402073ORPHA12157197159465
HP:0000504HP:0000504Abnormality of vision5MPDU1 CL E G H952679323ORPHA17937207604041
HP:0000504HP:0000504Abnormality of vision5NRAS CL E G H48932612Heart defect, tongue hamartoma and polysyndactylyORPHA1142067989164790
HP:0000504HP:0000504Abnormality of vision5P2RY11 CL E G H50322073ORPHA112318540602697
HP:0000504HP:0000504Abnormality of vision5PAX3 CL E G H5077894ORPHA11532458617606597
HP:0000504HP:0000504Abnormality of vision5PAX6 CL E G H50802253ORPHA15715708620607108
HP:0000504HP:0000504Abnormality of vision5PLG CL E G H5340722ORPHA1781579071173350
HP:0000504HP:0000504Abnormality of vision5PRRT2 CL E G H112476306ORPHA110558930500614386
HP:0000504HP:0000504Abnormality of vision5RS1 CL E G H6247792ORPHA127954810457300839
HP:0000504HP:0000504Abnormality of vision5SCN2A CL E G H6326306ORPHA1268142210588182390
HP:0000504HP:0000504Abnormality of vision5SCN8A CL E G H6334306ORPHA1103107410596600702
HP:0000504HP:0000504Abnormality of vision5SHH CL E G H6469611638Microphthalmia, isolated, with coloboma 5611638C1968843OMIM122123110848600725
HP:0000504HP:0000504Abnormality of vision5SLC25A24 CL E G H299572095ORPHA126920662608744
HP:0000504HP:0000504Abnormality of vision5SOX10 CL E G H6663897ORPHA115123611190602229
HP:0000504HP:0000504Abnormality of vision5TNFSF4 CL E G H72922073ORPHA173411934603594
HP:0000504HP:0000504Abnormality of vision5TRIP13 CL E G H93191052Mosaic variegated aneuploidy syndromeC1850343ORPHA1221312307604507
HP:0000504HP:0000504Abnormality of vision5VPS13A CL E G H232302388ORPHA111612301908605978
HP:0000504HP:0000504Abnormality of vision5ZNF365 CL E G H228912073ORPHA124518194607818
HP:0000504HP:0000504Abnormality of vision6ALG3 CL E G H1019579321ORPHA11915723056608750
HP:0000504HP:0000504Abnormality of vision6ARID1B CL E G H57492251056ORPHA118881518040614556
HP:0000504HP:0000504Abnormality of vision6BRAF CL E G H6731340Chromosome 4, monosomy 4qC0265404ORPHA1685991097164757
HP:0000504HP:0000504Abnormality of vision6BUB1 CL E G H6991052Mosaic variegated aneuploidy syndromeC1850343ORPHA120861148602452
HP:0000504HP:0000504Abnormality of vision6BUB1B CL E G H7011052Mosaic variegated aneuploidy syndromeC1850343ORPHA1294991149602860
HP:0000504HP:0000504Abnormality of vision6BUB3 CL E G H91841052Mosaic variegated aneuploidy syndromeC1850343ORPHA16511151603719
HP:0000504HP:0000504Abnormality of vision6CDH1 CL E G H9991997ORPHA126427971748192090
HP:0000504HP:0000504Abnormality of vision6CDH3 CL E G H10011897ORPHA1314061762114021
HP:0000504HP:0000504Abnormality of vision6CEP57 CL E G H97021052Mosaic variegated aneuploidy syndromeC1850343ORPHA1521230794607951
HP:0000504HP:0000504Abnormality of vision6CTNND1 CL E G H15001997ORPHA117512515601045
HP:0000504HP:0000504Abnormality of vision6CTSH CL E G H15122073ORPHA11272535116820
HP:0000504HP:0000504Abnormality of vision6CYP27A1 CL E G H1593909ORPHA11164392605606530
HP:0000504HP:0000504Abnormality of vision6DPM1 CL E G H881379322ORPHA191553005603503
HP:0000504HP:0000504Abnormality of vision6DPYD CL E G H1806293948ORPHA11243313012612779
HP:0000504HP:0000504Abnormality of vision6EDN3 CL E G H1908897ORPHA1211333178131242
HP:0000504HP:0000504Abnormality of vision6EDNRB CL E G H1910897ORPHA1702183180131244
HP:0000504HP:0000504Abnormality of vision6FOXE3 CL E G H230183461ORPHA1311463808601094
HP:0000504HP:0000504Abnormality of vision6HCRT CL E G H30602073ORPHA1294847602358
HP:0000504HP:0000504Abnormality of vision6HGD CL E G H308156ORPHA11382094892607474
HP:0000504HP:0000504Abnormality of vision6HLA-DQB1 CL E G H31192073ORPHA115124944604305
HP:0000504HP:0000504Abnormality of vision6HLA-DRB1 CL E G H31232073ORPHA126244948142857
HP:0000504HP:0000504Abnormality of vision6HRAS CL E G H32652612Heart defect, tongue hamartoma and polysyndactylyORPHA1344065173190020
HP:0000504HP:0000504Abnormality of vision6KCNQ2 CL E G H3785306ORPHA131413386296602235
HP:0000504HP:0000504Abnormality of vision6KCNQ3 CL E G H3786306ORPHA1258666297602232
HP:0000504HP:0000504Abnormality of vision6KRAS CL E G H38451340Chromosome 4, monosomy 4qC0265404ORPHA1453296407190070
HP:0000504HP:0000504Abnormality of vision6KRAS CL E G H38452612Heart defect, tongue hamartoma and polysyndactylyORPHA1453296407190070
HP:0000504HP:0000504Abnormality of vision6LIFR CL E G H39773206ORPHA1325486597151443
HP:0000504HP:0000504Abnormality of vision6MAP2K1 CL E G H56041340Chromosome 4, monosomy 4qC0265404ORPHA1232896840176872
HP:0000504HP:0000504Abnormality of vision6MAP2K2 CL E G H56051340Chromosome 4, monosomy 4qC0265404ORPHA1354466842601263
HP:0000504HP:0000504Abnormality of vision6MOG CL E G H43402073ORPHA12157197159465
HP:0000504HP:0000504Abnormality of vision6MPDU1 CL E G H952679323ORPHA17937207604041
HP:0000504HP:0000504Abnormality of vision6NRAS CL E G H48932612Heart defect, tongue hamartoma and polysyndactylyORPHA1142067989164790
HP:0000504HP:0000504Abnormality of vision6P2RY11 CL E G H50322073ORPHA112318540602697
HP:0000504HP:0000504Abnormality of vision6PAX3 CL E G H5077894ORPHA11532458617606597
HP:0000504HP:0000504Abnormality of vision6PAX6 CL E G H50802253ORPHA15715708620607108
HP:0000504HP:0000504Abnormality of vision6PLG CL E G H5340722ORPHA1781579071173350
HP:0000504HP:0000504Abnormality of vision6PRRT2 CL E G H112476306ORPHA110558930500614386
HP:0000504HP:0000504Abnormality of vision6RS1 CL E G H6247792ORPHA127954810457300839
HP:0000504HP:0000504Abnormality of vision6SCN2A CL E G H6326306ORPHA1268142210588182390
HP:0000504HP:0000504Abnormality of vision6SCN8A CL E G H6334306ORPHA1103107410596600702
HP:0000504HP:0000504Abnormality of vision6SHH CL E G H6469611638Microphthalmia, isolated, with coloboma 5611638C1968843OMIM122123110848600725
HP:0000504HP:0000504Abnormality of vision6SLC25A24 CL E G H299572095ORPHA126920662608744
HP:0000504HP:0000504Abnormality of vision6SOX10 CL E G H6663897ORPHA115123611190602229
HP:0000504HP:0000504Abnormality of vision6TNFSF4 CL E G H72922073ORPHA173411934603594
HP:0000504HP:0000504Abnormality of vision6TRIP13 CL E G H93191052Mosaic variegated aneuploidy syndromeC1850343ORPHA1221312307604507
HP:0000504HP:0000504Abnormality of vision6VPS13A CL E G H232302388ORPHA111612301908605978
HP:0000504HP:0000504Abnormality of vision6ZNF365 CL E G H228912073ORPHA124518194607818
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000504HP:0000504Abnormality of vision0AARS CL E G H16442835ORPHA02120601065
HP:0000504HP:0000504Abnormality of vision0ABCA7 CL E G H103471020ORPHA014311737605414
HP:0000504HP:0000504Abnormality of vision0AP3B2 CL E G H8120442835ORPHA012109567602166
HP:0000504HP:0000504Abnormality of vision0APP CL E G H3511020ORPHA0107316620104760
HP:0000504HP:0000504Abnormality of vision0ARV1 CL E G H64801442835ORPHA036129561611647
HP:0000504HP:0000504Abnormality of vision0ASAH1 CL E G H427333ORPHA071417735613468
HP:0000504HP:0000504Abnormality of vision0ATP6V1A CL E G H523442835ORPHA0975851607027
HP:0000504HP:0000504Abnormality of vision0ATP8A2 CL E G H517611766ORPHA01111913533605870
HP:0000504HP:0000504Abnormality of vision0CA8 CL E G H7671766ORPHA04771382114815
HP:0000504HP:0000504Abnormality of vision0CACNA1A CL E G H773442835ORPHA025119631388601011
HP:0000504HP:0000504Abnormality of vision0CHD7 CL E G H55636138ORPHA0884167220626608892
HP:0000504HP:0000504Abnormality of vision0CLEC7A CL E G H645811334ORPHA014614558606264
HP:0000504HP:0000504Abnormality of vision0CLTC CL E G H1213442835ORPHA014902092118955
HP:0000504HP:0000504Abnormality of vision0CNKSR2 CL E G H22866442835ORPHA0624019701300724
HP:0000504HP:0000504Abnormality of vision0CYFIP2 CL E G H26999442835ORPHA037613760606323
HP:0000504HP:0000504Abnormality of vision0DACT1 CL E G H51339857Benign familial infantile epilepsyORPHA085617748607861
HP:0000504HP:0000504Abnormality of vision0DHDDS CL E G H79947442835ORPHA0819920603608172
HP:0000504HP:0000504Abnormality of vision0DNM1 CL E G H1759442835ORPHA0314432972602377
HP:0000504HP:0000504Abnormality of vision0EEF1A2 CL E G H1917442835ORPHA0123703192602959
HP:0000504HP:0000504Abnormality of vision0FGF12 CL E G H2257442835ORPHA0101233668601513
HP:0000504HP:0000504Abnormality of vision0FGFR2 CL E G H22631555ORPHA01594463689176943
HP:0000504HP:0000504Abnormality of vision0GABRB2 CL E G H2561442835ORPHA0163104082600232
HP:0000504HP:0000504Abnormality of vision0GNAS CL E G H2778562ORPHA02793134392139320
HP:0000504HP:0000504Abnormality of vision0GORAB CL E G H923442078ORPHA01612925676607983
HP:0000504HP:0000504Abnormality of vision0GRIN2D CL E G H2906442835ORPHA021094588602717
HP:0000504HP:0000504Abnormality of vision0HCN1 CL E G H348980442835ORPHA0404184845602780
HP:0000504HP:0000504Abnormality of vision0IL17F CL E G H1127441334ORPHA057816404606496
HP:0000504HP:0000504Abnormality of vision0IL17RA CL E G H237651334ORPHA0195985985605461
HP:0000504HP:0000504Abnormality of vision0IL17RC CL E G H848181334ORPHA0431418358610925
HP:0000504HP:0000504Abnormality of vision0KCNA2 CL E G H3737442835ORPHA0212296220176262
HP:0000504HP:0000504Abnormality of vision0KCNB1 CL E G H3745442835ORPHA0303886231600397
HP:0000504HP:0000504Abnormality of vision0KCTD7 CL E G H154881263516ORPHA02130221957611725
HP:0000504HP:0000504Abnormality of vision0MEN1 CL E G H422197279ORPHA074814087010613733
HP:0000504HP:0000504Abnormality of vision0NECAP1 CL E G H25977442835ORPHA0110224539611623
HP:0000504HP:0000504Abnormality of vision0NTRK2 CL E G H4915442835ORPHA0131078032600456
HP:0000504HP:0000504Abnormality of vision0NUS1 CL E G H116150442835ORPHA0227621042610463
HP:0000504HP:0000504Abnormality of vision0POLR1A CL E G H258851200Cerebellum agenesis hydrocephalyORPHA0515117264616404
HP:0000504HP:0000504Abnormality of vision0PPP3CA CL E G H5530442835ORPHA011669314114105
HP:0000504HP:0000504Abnormality of vision0PSEN1 CL E G H56631020ORPHA03204059508104311
HP:0000504HP:0000504Abnormality of vision0PSEN2 CL E G H56641020ORPHA0681979509600759
HP:0000504HP:0000504Abnormality of vision0PYCR1 CL E G H58312078ORPHA0411639721179035
HP:0000504HP:0000504Abnormality of vision0SALL1 CL E G H6299857Benign familial infantile epilepsyORPHA08823810524602218
HP:0000504HP:0000504Abnormality of vision0SCN3A CL E G H6328442835ORPHA01970710590182391
HP:0000504HP:0000504Abnormality of vision0SCN8A CL E G H6334442835ORPHA0103107410596600702
HP:0000504HP:0000504Abnormality of vision0SEMA3E CL E G H9723138ORPHA0432710727608166
HP:0000504HP:0000504Abnormality of vision0SLC13A5 CL E G H284111442835ORPHA02142823089608305
HP:0000504HP:0000504Abnormality of vision0SLC1A2 CL E G H6506442835ORPHA086510940600300
HP:0000504HP:0000504Abnormality of vision0SNAP29 CL E G H934266631ORPHA01356211133604202
HP:0000504HP:0000504Abnormality of vision0SORL1 CL E G H66531020ORPHA013613311185602005
HP:0000504HP:0000504Abnormality of vision0STXBP1 CL E G H6812442835ORPHA019570611444602926
HP:0000504HP:0000504Abnormality of vision0SYNGAP1 CL E G H8831442835ORPHA08679611497603384
HP:0000504HP:0000504Abnormality of vision0SYNJ1 CL E G H8867442835ORPHA02772311503604297
HP:0000504HP:0000504Abnormality of vision0SZT2 CL E G H23334442835ORPHA025160929040615463
HP:0000504HP:0000504Abnormality of vision0TOMM40 CL E G H104521020ORPHA031318001608061
HP:0000504HP:0000504Abnormality of vision0TRAF3IP2 CL E G H107581334ORPHA051331343607043
HP:0000504HP:0000504Abnormality of vision0TRAK1 CL E G H22906442835ORPHA063829947608112
HP:0000504HP:0000504Abnormality of vision0TREM2 CL E G H542091020ORPHA0566417761605086
HP:0000504HP:0000504Abnormality of vision0TUBB2B CL E G H3477331766ORPHA03013630829612850
HP:0000504HP:0000504Abnormality of vision0TXNL4A CL E G H109071200Cerebellum agenesis hydrocephalyORPHA01319130551611595
HP:0000504HP:0000504Abnormality of vision0UBA5 CL E G H79876442835ORPHA0185723230610552
HP:0000504HP:0000504Abnormality of vision0VLDLR CL E G H74361766ORPHA02845112698192977
HP:0000504HP:0000504Abnormality of vision0WDR81 CL E G H1249971766ORPHA01724026600614218
HP:0000504HP:0000504Abnormality of vision0WWOX CL E G H51741442835ORPHA05075512799605131
HP:0000504HP:0000504Abnormality of vision0YWHAG CL E G H7532442835ORPHA055612852605356
HP:0000504HP:0000504Abnormality of vision1AARS CL E G H16442835ORPHA02120601065
HP:0000504HP:0000504Abnormality of vision1ABCA7 CL E G H103471020ORPHA014311737605414
HP:0000504HP:0000504Abnormality of vision1AP3B2 CL E G H8120442835ORPHA012109567602166
HP:0000504HP:0000504Abnormality of vision1APP CL E G H3511020ORPHA0107316620104760
HP:0000504HP:0000504Abnormality of vision1ARV1 CL E G H64801442835ORPHA036129561611647
HP:0000504HP:0000504Abnormality of vision1ASAH1 CL E G H427333ORPHA071417735613468
HP:0000504HP:0000504Abnormality of vision1ATP6V1A CL E G H523442835ORPHA0975851607027
HP:0000504HP:0000504Abnormality of vision1ATP8A2 CL E G H517611766ORPHA01111913533605870
HP:0000504HP:0000504Abnormality of vision1CA8 CL E G H7671766ORPHA04771382114815
HP:0000504HP:0000504Abnormality of vision1CACNA1A CL E G H773442835ORPHA025119631388601011
HP:0000504HP:0000504Abnormality of vision1CHD7 CL E G H55636138ORPHA0884167220626608892
HP:0000504HP:0000504Abnormality of vision1CLEC7A CL E G H645811334ORPHA014614558606264
HP:0000504HP:0000504Abnormality of vision1CLTC CL E G H1213442835ORPHA014902092118955
HP:0000504HP:0000504Abnormality of vision1CNKSR2 CL E G H22866442835ORPHA0624019701300724
HP:0000504HP:0000504Abnormality of vision1CYFIP2 CL E G H26999442835ORPHA037613760606323
HP:0000504HP:0000504Abnormality of vision1DACT1 CL E G H51339857Benign familial infantile epilepsyORPHA085617748607861
HP:0000504HP:0000504Abnormality of vision1DHDDS CL E G H79947442835ORPHA0819920603608172
HP:0000504HP:0000504Abnormality of vision1DNM1 CL E G H1759442835ORPHA0314432972602377
HP:0000504HP:0000504Abnormality of vision1EEF1A2 CL E G H1917442835ORPHA0123703192602959
HP:0000504HP:0000504Abnormality of vision1FGF12 CL E G H2257442835ORPHA0101233668601513
HP:0000504HP:0000504Abnormality of vision1FGFR2 CL E G H22631555ORPHA01594463689176943
HP:0000504HP:0000504Abnormality of vision1GABRB2 CL E G H2561442835ORPHA0163104082600232
HP:0000504HP:0000504Abnormality of vision1GNAS CL E G H2778562ORPHA02793134392139320
HP:0000504HP:0000504Abnormality of vision1GORAB CL E G H923442078ORPHA01612925676607983
HP:0000504HP:0000504Abnormality of vision1GRIN2D CL E G H2906442835ORPHA021094588602717
HP:0000504HP:0000504Abnormality of vision1HCN1 CL E G H348980442835ORPHA0404184845602780
HP:0000504HP:0000504Abnormality of vision1IL17F CL E G H1127441334ORPHA057816404606496
HP:0000504HP:0000504Abnormality of vision1IL17RA CL E G H237651334ORPHA0195985985605461
HP:0000504HP:0000504Abnormality of vision1IL17RC CL E G H848181334ORPHA0431418358610925
HP:0000504HP:0000504Abnormality of vision1KCNA2 CL E G H3737442835ORPHA0212296220176262
HP:0000504HP:0000504Abnormality of vision1KCNB1 CL E G H3745442835ORPHA0303886231600397
HP:0000504HP:0000504Abnormality of vision1KCTD7 CL E G H154881263516ORPHA02130221957611725
HP:0000504HP:0000504Abnormality of vision1MEN1 CL E G H422197279ORPHA074814087010613733
HP:0000504HP:0000504Abnormality of vision1NECAP1 CL E G H25977442835ORPHA0110224539611623
HP:0000504HP:0000504Abnormality of vision1NTRK2 CL E G H4915442835ORPHA0131078032600456
HP:0000504HP:0000504Abnormality of vision1NUS1 CL E G H116150442835ORPHA0227621042610463
HP:0000504HP:0000504Abnormality of vision1POLR1A CL E G H258851200Cerebellum agenesis hydrocephalyORPHA0515117264616404
HP:0000504HP:0000504Abnormality of vision1PPP3CA CL E G H5530442835ORPHA011669314114105
HP:0000504HP:0000504Abnormality of vision1PSEN1 CL E G H56631020ORPHA03204059508104311
HP:0000504HP:0000504Abnormality of vision1PSEN2 CL E G H56641020ORPHA0681979509600759
HP:0000504HP:0000504Abnormality of vision1PYCR1 CL E G H58312078ORPHA0411639721179035
HP:0000504HP:0000504Abnormality of vision1SALL1 CL E G H6299857Benign familial infantile epilepsyORPHA08823810524602218
HP:0000504HP:0000504Abnormality of vision1SCN3A CL E G H6328442835ORPHA01970710590182391
HP:0000504HP:0000504Abnormality of vision1SCN8A CL E G H6334442835ORPHA0103107410596600702
HP:0000504HP:0000504Abnormality of vision1SEMA3E CL E G H9723138ORPHA0432710727608166
HP:0000504HP:0000504Abnormality of vision1SLC13A5 CL E G H284111442835ORPHA02142823089608305
HP:0000504HP:0000504Abnormality of vision1SLC1A2 CL E G H6506442835ORPHA086510940600300
HP:0000504HP:0000504Abnormality of vision1SNAP29 CL E G H934266631ORPHA01356211133604202
HP:0000504HP:0000504Abnormality of vision1SORL1 CL E G H66531020ORPHA013613311185602005
HP:0000504HP:0000504Abnormality of vision1STXBP1 CL E G H6812442835ORPHA019570611444602926
HP:0000504HP:0000504Abnormality of vision1SYNGAP1 CL E G H8831442835ORPHA08679611497603384
HP:0000504HP:0000504Abnormality of vision1SYNJ1 CL E G H8867442835ORPHA02772311503604297
HP:0000504HP:0000504Abnormality of vision1SZT2 CL E G H23334442835ORPHA025160929040615463
HP:0000504HP:0000504Abnormality of vision1TOMM40 CL E G H104521020ORPHA031318001608061
HP:0000504HP:0000504Abnormality of vision1TRAF3IP2 CL E G H107581334ORPHA051331343607043
HP:0000504HP:0000504Abnormality of vision1TRAK1 CL E G H22906442835ORPHA063829947608112
HP:0000504HP:0000504Abnormality of vision1TREM2 CL E G H542091020ORPHA0566417761605086
HP:0000504HP:0000504Abnormality of vision1TUBB2B CL E G H3477331766ORPHA03013630829612850
HP:0000504HP:0000504Abnormality of vision1TXNL4A CL E G H109071200Cerebellum agenesis hydrocephalyORPHA01319130551611595
HP:0000504HP:0000504Abnormality of vision1UBA5 CL E G H79876442835ORPHA0185723230610552
HP:0000504HP:0000504Abnormality of vision1VLDLR CL E G H74361766ORPHA02845112698192977
HP:0000504HP:0000504Abnormality of vision1WDR81 CL E G H1249971766ORPHA01724026600614218
HP:0000504HP:0000504Abnormality of vision1WWOX CL E G H51741442835ORPHA05075512799605131
HP:0000504HP:0000504Abnormality of vision1YWHAG CL E G H7532442835ORPHA055612852605356
HP:0000504HP:0000504Abnormality of vision2AARS CL E G H16442835ORPHA02120601065
HP:0000504HP:0000504Abnormality of vision2ABCA7 CL E G H103471020ORPHA014311737605414
HP:0000504HP:0000504Abnormality of vision2AP3B2 CL E G H8120442835ORPHA012109567602166
HP:0000504HP:0000504Abnormality of vision2APP CL E G H3511020ORPHA0107316620104760
HP:0000504HP:0000504Abnormality of vision2ARV1 CL E G H64801442835ORPHA036129561611647
HP:0000504HP:0000504Abnormality of vision2ASAH1 CL E G H427333ORPHA071417735613468
HP:0000504HP:0000504Abnormality of vision2ATP6V1A CL E G H523442835ORPHA0975851607027
HP:0000504HP:0000504Abnormality of vision2ATP8A2 CL E G H517611766ORPHA01111913533605870
HP:0000504HP:0000504Abnormality of vision2CA8 CL E G H7671766ORPHA04771382114815
HP:0000504HP:0000504Abnormality of vision2CACNA1A CL E G H773442835ORPHA025119631388601011
HP:0000504HP:0000504Abnormality of vision2CHD7 CL E G H55636138ORPHA0884167220626608892
HP:0000504HP:0000504Abnormality of vision2CLEC7A CL E G H645811334ORPHA014614558606264
HP:0000504HP:0000504Abnormality of vision2CLTC CL E G H1213442835ORPHA014902092118955
HP:0000504HP:0000504Abnormality of vision2CNKSR2 CL E G H22866442835ORPHA0624019701300724
HP:0000504HP:0000504Abnormality of vision2CYFIP2 CL E G H26999442835ORPHA037613760606323
HP:0000504HP:0000504Abnormality of vision2DACT1 CL E G H51339857Benign familial infantile epilepsyORPHA085617748607861
HP:0000504HP:0000504Abnormality of vision2DHDDS CL E G H79947442835ORPHA0819920603608172
HP:0000504HP:0000504Abnormality of vision2DNM1 CL E G H1759442835ORPHA0314432972602377
HP:0000504HP:0000504Abnormality of vision2EEF1A2 CL E G H1917442835ORPHA0123703192602959
HP:0000504HP:0000504Abnormality of vision2FGF12 CL E G H2257442835ORPHA0101233668601513
HP:0000504HP:0000504Abnormality of vision2FGFR2 CL E G H22631555ORPHA01594463689176943
HP:0000504HP:0000504Abnormality of vision2GABRB2 CL E G H2561442835ORPHA0163104082600232
HP:0000504HP:0000504Abnormality of vision2GNAS CL E G H2778562ORPHA02793134392139320
HP:0000504HP:0000504Abnormality of vision2GORAB CL E G H923442078ORPHA01612925676607983
HP:0000504HP:0000504Abnormality of vision2GRIN2D CL E G H2906442835ORPHA021094588602717
HP:0000504HP:0000504Abnormality of vision2HCN1 CL E G H348980442835ORPHA0404184845602780
HP:0000504HP:0000504Abnormality of vision2IL17F CL E G H1127441334ORPHA057816404606496
HP:0000504HP:0000504Abnormality of vision2IL17RA CL E G H237651334ORPHA0195985985605461
HP:0000504HP:0000504Abnormality of vision2IL17RC CL E G H848181334ORPHA0431418358610925
HP:0000504HP:0000504Abnormality of vision2KCNA2 CL E G H3737442835ORPHA0212296220176262
HP:0000504HP:0000504Abnormality of vision2KCNB1 CL E G H3745442835ORPHA0303886231600397
HP:0000504HP:0000504Abnormality of vision2KCTD7 CL E G H154881263516ORPHA02130221957611725
HP:0000504HP:0000504Abnormality of vision2MEN1 CL E G H422197279ORPHA074814087010613733
HP:0000504HP:0000504Abnormality of vision2NECAP1 CL E G H25977442835ORPHA0110224539611623
HP:0000504HP:0000504Abnormality of vision2NTRK2 CL E G H4915442835ORPHA0131078032600456
HP:0000504HP:0000504Abnormality of vision2NUS1 CL E G H116150442835ORPHA0227621042610463
HP:0000504HP:0000504Abnormality of vision2POLR1A CL E G H258851200Cerebellum agenesis hydrocephalyORPHA0515117264616404
HP:0000504HP:0000504Abnormality of vision2PPP3CA CL E G H5530442835ORPHA011669314114105
HP:0000504HP:0000504Abnormality of vision2PSEN1 CL E G H56631020ORPHA03204059508104311
HP:0000504HP:0000504Abnormality of vision2PSEN2 CL E G H56641020ORPHA0681979509600759
HP:0000504HP:0000504Abnormality of vision2PYCR1 CL E G H58312078ORPHA0411639721179035
HP:0000504HP:0000504Abnormality of vision2SALL1 CL E G H6299857Benign familial infantile epilepsyORPHA08823810524602218
HP:0000504HP:0000504Abnormality of vision2SCN3A CL E G H6328442835ORPHA01970710590182391
HP:0000504HP:0000504Abnormality of vision2SCN8A CL E G H6334442835ORPHA0103107410596600702
HP:0000504HP:0000504Abnormality of vision2SEMA3E CL E G H9723138ORPHA0432710727608166
HP:0000504HP:0000504Abnormality of vision2SLC13A5 CL E G H284111442835ORPHA02142823089608305
HP:0000504HP:0000504Abnormality of vision2SLC1A2 CL E G H6506442835ORPHA086510940600300
HP:0000504HP:0000504Abnormality of vision2SNAP29 CL E G H934266631ORPHA01356211133604202
HP:0000504HP:0000504Abnormality of vision2SORL1 CL E G H66531020ORPHA013613311185602005
HP:0000504HP:0000504Abnormality of vision2STXBP1 CL E G H6812442835ORPHA019570611444602926
HP:0000504HP:0000504Abnormality of vision2SYNGAP1 CL E G H8831442835ORPHA08679611497603384
HP:0000504HP:0000504Abnormality of vision2SYNJ1 CL E G H8867442835ORPHA02772311503604297
HP:0000504HP:0000504Abnormality of vision2SZT2 CL E G H23334442835ORPHA025160929040615463
HP:0000504HP:0000504Abnormality of vision2TOMM40 CL E G H104521020ORPHA031318001608061
HP:0000504HP:0000504Abnormality of vision2TRAF3IP2 CL E G H107581334ORPHA051331343607043
HP:0000504HP:0000504Abnormality of vision2TRAK1 CL E G H22906442835ORPHA063829947608112
HP:0000504HP:0000504Abnormality of vision2TREM2 CL E G H542091020ORPHA0566417761605086
HP:0000504HP:0000504Abnormality of vision2TUBB2B CL E G H3477331766ORPHA03013630829612850
HP:0000504HP:0000504Abnormality of vision2TXNL4A CL E G H109071200Cerebellum agenesis hydrocephalyORPHA01319130551611595
HP:0000504HP:0000504Abnormality of vision2UBA5 CL E G H79876442835ORPHA0185723230610552
HP:0000504HP:0000504Abnormality of vision2VLDLR CL E G H74361766ORPHA02845112698192977
HP:0000504HP:0000504Abnormality of vision2WDR81 CL E G H1249971766ORPHA01724026600614218
HP:0000504HP:0000504Abnormality of vision2WWOX CL E G H51741442835ORPHA05075512799605131
HP:0000504HP:0000504Abnormality of vision2YWHAG CL E G H7532442835ORPHA055612852605356
HP:0000504HP:0000504Abnormality of vision3AARS CL E G H16442835ORPHA02120601065
HP:0000504HP:0000504Abnormality of vision3ABCA7 CL E G H103471020ORPHA014311737605414
HP:0000504HP:0000504Abnormality of vision3AP3B2 CL E G H8120442835ORPHA012109567602166
HP:0000504HP:0000504Abnormality of vision3APP CL E G H3511020ORPHA0107316620104760
HP:0000504HP:0000504Abnormality of vision3ARV1 CL E G H64801442835ORPHA036129561611647
HP:0000504HP:0000504Abnormality of vision3ASAH1 CL E G H427333ORPHA071417735613468
HP:0000504HP:0000504Abnormality of vision3ATP6V1A CL E G H523442835ORPHA0975851607027
HP:0000504HP:0000504Abnormality of vision3ATP8A2 CL E G H517611766ORPHA01111913533605870
HP:0000504HP:0000504Abnormality of vision3CA8 CL E G H7671766ORPHA04771382114815
HP:0000504HP:0000504Abnormality of vision3CACNA1A CL E G H773442835ORPHA025119631388601011
HP:0000504HP:0000504Abnormality of vision3CHD7 CL E G H55636138ORPHA0884167220626608892
HP:0000504HP:0000504Abnormality of vision3CLEC7A CL E G H645811334ORPHA014614558606264
HP:0000504HP:0000504Abnormality of vision3CLTC CL E G H1213442835ORPHA014902092118955
HP:0000504HP:0000504Abnormality of vision3CNKSR2 CL E G H22866442835ORPHA0624019701300724
HP:0000504HP:0000504Abnormality of vision3CYFIP2 CL E G H26999442835ORPHA037613760606323
HP:0000504HP:0000504Abnormality of vision3DACT1 CL E G H51339857Benign familial infantile epilepsyORPHA085617748607861
HP:0000504HP:0000504Abnormality of vision3DHDDS CL E G H79947442835ORPHA0819920603608172
HP:0000504HP:0000504Abnormality of vision3DNM1 CL E G H1759442835ORPHA0314432972602377
HP:0000504HP:0000504Abnormality of vision3EEF1A2 CL E G H1917442835ORPHA0123703192602959
HP:0000504HP:0000504Abnormality of vision3FGF12 CL E G H2257442835ORPHA0101233668601513
HP:0000504HP:0000504Abnormality of vision3FGFR2 CL E G H22631555ORPHA01594463689176943
HP:0000504HP:0000504Abnormality of vision3GABRB2 CL E G H2561442835ORPHA0163104082600232
HP:0000504HP:0000504Abnormality of vision3GNAS CL E G H2778562ORPHA02793134392139320
HP:0000504HP:0000504Abnormality of vision3GORAB CL E G H923442078ORPHA01612925676607983
HP:0000504HP:0000504Abnormality of vision3GRIN2D CL E G H2906442835ORPHA021094588602717
HP:0000504HP:0000504Abnormality of vision3HCN1 CL E G H348980442835ORPHA0404184845602780
HP:0000504HP:0000504Abnormality of vision3IL17F CL E G H1127441334ORPHA057816404606496
HP:0000504HP:0000504Abnormality of vision3IL17RA CL E G H237651334ORPHA0195985985605461
HP:0000504HP:0000504Abnormality of vision3IL17RC CL E G H848181334ORPHA0431418358610925
HP:0000504HP:0000504Abnormality of vision3KCNA2 CL E G H3737442835ORPHA0212296220176262
HP:0000504HP:0000504Abnormality of vision3KCNB1 CL E G H3745442835ORPHA0303886231600397
HP:0000504HP:0000504Abnormality of vision3KCTD7 CL E G H154881263516ORPHA02130221957611725
HP:0000504HP:0000504Abnormality of vision3MEN1 CL E G H422197279ORPHA074814087010613733
HP:0000504HP:0000504Abnormality of vision3NECAP1 CL E G H25977442835ORPHA0110224539611623
HP:0000504HP:0000504Abnormality of vision3NTRK2 CL E G H4915442835ORPHA0131078032600456
HP:0000504HP:0000504Abnormality of vision3NUS1 CL E G H116150442835ORPHA0227621042610463
HP:0000504HP:0000504Abnormality of vision3POLR1A CL E G H258851200Cerebellum agenesis hydrocephalyORPHA0515117264616404
HP:0000504HP:0000504Abnormality of vision3PPP3CA CL E G H5530442835ORPHA011669314114105
HP:0000504HP:0000504Abnormality of vision3PSEN1 CL E G H56631020ORPHA03204059508104311
HP:0000504HP:0000504Abnormality of vision3PSEN2 CL E G H56641020ORPHA0681979509600759
HP:0000504HP:0000504Abnormality of vision3PYCR1 CL E G H58312078ORPHA0411639721179035
HP:0000504HP:0000504Abnormality of vision3SALL1 CL E G H6299857Benign familial infantile epilepsyORPHA08823810524602218
HP:0000504HP:0000504Abnormality of vision3SCN3A CL E G H6328442835ORPHA01970710590182391
HP:0000504HP:0000504Abnormality of vision3SCN8A CL E G H6334442835ORPHA0103107410596600702
HP:0000504HP:0000504Abnormality of vision3SEMA3E CL E G H9723138ORPHA0432710727608166
HP:0000504HP:0000504Abnormality of vision3SLC13A5 CL E G H284111442835ORPHA02142823089608305
HP:0000504HP:0000504Abnormality of vision3SLC1A2 CL E G H6506442835ORPHA086510940600300
HP:0000504HP:0000504Abnormality of vision3SNAP29 CL E G H934266631ORPHA01356211133604202
HP:0000504HP:0000504Abnormality of vision3SORL1 CL E G H66531020ORPHA013613311185602005
HP:0000504HP:0000504Abnormality of vision3STXBP1 CL E G H6812442835ORPHA019570611444602926
HP:0000504HP:0000504Abnormality of vision3SYNGAP1 CL E G H8831442835ORPHA08679611497603384
HP:0000504HP:0000504Abnormality of vision3SYNJ1 CL E G H8867442835ORPHA02772311503604297
HP:0000504HP:0000504Abnormality of vision3SZT2 CL E G H23334442835ORPHA025160929040615463
HP:0000504HP:0000504Abnormality of vision3TOMM40 CL E G H104521020ORPHA031318001608061
HP:0000504HP:0000504Abnormality of vision3TRAF3IP2 CL E G H107581334ORPHA051331343607043
HP:0000504HP:0000504Abnormality of vision3TRAK1 CL E G H22906442835ORPHA063829947608112
HP:0000504HP:0000504Abnormality of vision3TREM2 CL E G H542091020ORPHA0566417761605086
HP:0000504HP:0000504Abnormality of vision3TUBB2B CL E G H3477331766ORPHA03013630829612850
HP:0000504HP:0000504Abnormality of vision3TXNL4A CL E G H109071200Cerebellum agenesis hydrocephalyORPHA01319130551611595
HP:0000504HP:0000504Abnormality of vision3UBA5 CL E G H79876442835ORPHA0185723230610552
HP:0000504HP:0000504Abnormality of vision3VLDLR CL E G H74361766ORPHA02845112698192977
HP:0000504HP:0000504Abnormality of vision3WDR81 CL E G H1249971766ORPHA01724026600614218
HP:0000504HP:0000504Abnormality of vision3WWOX CL E G H51741442835ORPHA05075512799605131
HP:0000504HP:0000504Abnormality of vision3YWHAG CL E G H7532442835ORPHA055612852605356
HP:0000504HP:0000504Abnormality of vision4AARS CL E G H16442835ORPHA02120601065
HP:0000504HP:0000504Abnormality of vision4ABCA7 CL E G H103471020ORPHA014311737605414
HP:0000504HP:0000504Abnormality of vision4AP3B2 CL E G H8120442835ORPHA012109567602166
HP:0000504HP:0000504Abnormality of vision4APP CL E G H3511020ORPHA0107316620104760
HP:0000504HP:0000504Abnormality of vision4ARV1 CL E G H64801442835ORPHA036129561611647
HP:0000504HP:0000504Abnormality of vision4ASAH1 CL E G H427333ORPHA071417735613468
HP:0000504HP:0000504Abnormality of vision4ATP6V1A CL E G H523442835ORPHA0975851607027
HP:0000504HP:0000504Abnormality of vision4ATP8A2 CL E G H517611766ORPHA01111913533605870
HP:0000504HP:0000504Abnormality of vision4CA8 CL E G H7671766ORPHA04771382114815
HP:0000504HP:0000504Abnormality of vision4CACNA1A CL E G H773442835ORPHA025119631388601011
HP:0000504HP:0000504Abnormality of vision4CHD7 CL E G H55636138ORPHA0884167220626608892
HP:0000504HP:0000504Abnormality of vision4CLEC7A CL E G H645811334ORPHA014614558606264
HP:0000504HP:0000504Abnormality of vision4CLTC CL E G H1213442835ORPHA014902092118955
HP:0000504HP:0000504Abnormality of vision4CNKSR2 CL E G H22866442835ORPHA0624019701300724
HP:0000504HP:0000504Abnormality of vision4CYFIP2 CL E G H26999442835ORPHA037613760606323
HP:0000504HP:0000504Abnormality of vision4DACT1 CL E G H51339857Benign familial infantile epilepsyORPHA085617748607861
HP:0000504HP:0000504Abnormality of vision4DHDDS CL E G H79947442835ORPHA0819920603608172
HP:0000504HP:0000504Abnormality of vision4DNM1 CL E G H1759442835ORPHA0314432972602377
HP:0000504HP:0000504Abnormality of vision4EEF1A2 CL E G H1917442835ORPHA0123703192602959
HP:0000504HP:0000504Abnormality of vision4FGF12 CL E G H2257442835ORPHA0101233668601513
HP:0000504HP:0000504Abnormality of vision4FGFR2 CL E G H22631555ORPHA01594463689176943
HP:0000504HP:0000504Abnormality of vision4GABRB2 CL E G H2561442835ORPHA0163104082600232
HP:0000504HP:0000504Abnormality of vision4GNAS CL E G H2778562ORPHA02793134392139320
HP:0000504HP:0000504Abnormality of vision4GORAB CL E G H923442078ORPHA01612925676607983
HP:0000504HP:0000504Abnormality of vision4GRIN2D CL E G H2906442835ORPHA021094588602717
HP:0000504HP:0000504Abnormality of vision4HCN1 CL E G H348980442835ORPHA0404184845602780
HP:0000504HP:0000504Abnormality of vision4IL17F CL E G H1127441334ORPHA057816404606496
HP:0000504HP:0000504Abnormality of vision4IL17RA CL E G H237651334ORPHA0195985985605461
HP:0000504HP:0000504Abnormality of vision4IL17RC CL E G H848181334ORPHA0431418358610925
HP:0000504HP:0000504Abnormality of vision4KCNA2 CL E G H3737442835ORPHA0212296220176262
HP:0000504HP:0000504Abnormality of vision4KCNB1 CL E G H3745442835ORPHA0303886231600397
HP:0000504HP:0000504Abnormality of vision4KCTD7 CL E G H154881263516ORPHA02130221957611725
HP:0000504HP:0000504Abnormality of vision4MEN1 CL E G H422197279ORPHA074814087010613733
HP:0000504HP:0000504Abnormality of vision4NECAP1 CL E G H25977442835ORPHA0110224539611623
HP:0000504HP:0000504Abnormality of vision4NTRK2 CL E G H4915442835ORPHA0131078032600456
HP:0000504HP:0000504Abnormality of vision4NUS1 CL E G H116150442835ORPHA0227621042610463
HP:0000504HP:0000504Abnormality of vision4POLR1A CL E G H258851200Cerebellum agenesis hydrocephalyORPHA0515117264616404
HP:0000504HP:0000504Abnormality of vision4PPP3CA CL E G H5530442835ORPHA011669314114105
HP:0000504HP:0000504Abnormality of vision4PSEN1 CL E G H56631020ORPHA03204059508104311
HP:0000504HP:0000504Abnormality of vision4PSEN2 CL E G H56641020ORPHA0681979509600759
HP:0000504HP:0000504Abnormality of vision4PYCR1 CL E G H58312078ORPHA0411639721179035
HP:0000504HP:0000504Abnormality of vision4SALL1 CL E G H6299857Benign familial infantile epilepsyORPHA08823810524602218
HP:0000504HP:0000504Abnormality of vision4SCN3A CL E G H6328442835ORPHA01970710590182391
HP:0000504HP:0000504Abnormality of vision4SCN8A CL E G H6334442835ORPHA0103107410596600702
HP:0000504HP:0000504Abnormality of vision4SEMA3E CL E G H9723138ORPHA0432710727608166
HP:0000504HP:0000504Abnormality of vision4SLC13A5 CL E G H284111442835ORPHA02142823089608305
HP:0000504HP:0000504Abnormality of vision4SLC1A2 CL E G H6506442835ORPHA086510940600300
HP:0000504HP:0000504Abnormality of vision4SNAP29 CL E G H934266631ORPHA01356211133604202
HP:0000504HP:0000504Abnormality of vision4SORL1 CL E G H66531020ORPHA013613311185602005
HP:0000504HP:0000504Abnormality of vision4STXBP1 CL E G H6812442835ORPHA019570611444602926
HP:0000504HP:0000504Abnormality of vision4SYNGAP1 CL E G H8831442835ORPHA08679611497603384
HP:0000504HP:0000504Abnormality of vision4SYNJ1 CL E G H8867442835ORPHA02772311503604297
HP:0000504HP:0000504Abnormality of vision4SZT2 CL E G H23334442835ORPHA025160929040615463
HP:0000504HP:0000504Abnormality of vision4TOMM40 CL E G H104521020ORPHA031318001608061
HP:0000504HP:0000504Abnormality of vision4TRAF3IP2 CL E G H107581334ORPHA051331343607043
HP:0000504HP:0000504Abnormality of vision4TRAK1 CL E G H22906442835ORPHA063829947608112
HP:0000504HP:0000504Abnormality of vision4TREM2 CL E G H542091020ORPHA0566417761605086
HP:0000504HP:0000504Abnormality of vision4TUBB2B CL E G H3477331766ORPHA03013630829612850
HP:0000504HP:0000504Abnormality of vision4TXNL4A CL E G H109071200Cerebellum agenesis hydrocephalyORPHA01319130551611595
HP:0000504HP:0000504Abnormality of vision4UBA5 CL E G H79876442835ORPHA0185723230610552
HP:0000504HP:0000504Abnormality of vision4VLDLR CL E G H74361766ORPHA02845112698192977
HP:0000504HP:0000504Abnormality of vision4WDR81 CL E G H1249971766ORPHA01724026600614218
HP:0000504HP:0000504Abnormality of vision4WWOX CL E G H51741442835ORPHA05075512799605131
HP:0000504HP:0000504Abnormality of vision4YWHAG CL E G H7532442835ORPHA055612852605356
HP:0000504HP:0000504Abnormality of vision5AARS CL E G H16442835ORPHA02120601065
HP:0000504HP:0000504Abnormality of vision5ABCA7 CL E G H103471020ORPHA014311737605414
HP:0000504HP:0000504Abnormality of vision5AP3B2 CL E G H8120442835ORPHA012109567602166
HP:0000504HP:0000504Abnormality of vision5APP CL E G H3511020ORPHA0107316620104760
HP:0000504HP:0000504Abnormality of vision5ARV1 CL E G H64801442835ORPHA036129561611647
HP:0000504HP:0000504Abnormality of vision5ASAH1 CL E G H427333ORPHA071417735613468
HP:0000504HP:0000504Abnormality of vision5ATP6V1A CL E G H523442835ORPHA0975851607027
HP:0000504HP:0000504Abnormality of vision5ATP8A2 CL E G H517611766ORPHA01111913533605870
HP:0000504HP:0000504Abnormality of vision5CA8 CL E G H7671766ORPHA04771382114815
HP:0000504HP:0000504Abnormality of vision5CACNA1A CL E G H773442835ORPHA025119631388601011
HP:0000504HP:0000504Abnormality of vision5CHD7 CL E G H55636138ORPHA0884167220626608892
HP:0000504HP:0000504Abnormality of vision5CLEC7A CL E G H645811334ORPHA014614558606264
HP:0000504HP:0000504Abnormality of vision5CLTC CL E G H1213442835ORPHA014902092118955
HP:0000504HP:0000504Abnormality of vision5CNKSR2 CL E G H22866442835ORPHA0624019701300724
HP:0000504HP:0000504Abnormality of vision5CYFIP2 CL E G H26999442835ORPHA037613760606323
HP:0000504HP:0000504Abnormality of vision5DACT1 CL E G H51339857Benign familial infantile epilepsyORPHA085617748607861
HP:0000504HP:0000504Abnormality of vision5DHDDS CL E G H79947442835ORPHA0819920603608172
HP:0000504HP:0000504Abnormality of vision5DNM1 CL E G H1759442835ORPHA0314432972602377
HP:0000504HP:0000504Abnormality of vision5EEF1A2 CL E G H1917442835ORPHA0123703192602959
HP:0000504HP:0000504Abnormality of vision5FGF12 CL E G H2257442835ORPHA0101233668601513
HP:0000504HP:0000504Abnormality of vision5FGFR2 CL E G H22631555ORPHA01594463689176943
HP:0000504HP:0000504Abnormality of vision5GABRB2 CL E G H2561442835ORPHA0163104082600232
HP:0000504HP:0000504Abnormality of vision5GNAS CL E G H2778562ORPHA02793134392139320
HP:0000504HP:0000504Abnormality of vision5GORAB CL E G H923442078ORPHA01612925676607983
HP:0000504HP:0000504Abnormality of vision5GRIN2D CL E G H2906442835ORPHA021094588602717
HP:0000504HP:0000504Abnormality of vision5HCN1 CL E G H348980442835ORPHA0404184845602780
HP:0000504HP:0000504Abnormality of vision5IL17F CL E G H1127441334ORPHA057816404606496
HP:0000504HP:0000504Abnormality of vision5IL17RA CL E G H237651334ORPHA0195985985605461
HP:0000504HP:0000504Abnormality of vision5IL17RC CL E G H848181334ORPHA0431418358610925
HP:0000504HP:0000504Abnormality of vision5KCNA2 CL E G H3737442835ORPHA0212296220176262
HP:0000504HP:0000504Abnormality of vision5KCNB1 CL E G H3745442835ORPHA0303886231600397
HP:0000504HP:0000504Abnormality of vision5KCTD7 CL E G H154881263516ORPHA02130221957611725
HP:0000504HP:0000504Abnormality of vision5MEN1 CL E G H422197279ORPHA074814087010613733
HP:0000504HP:0000504Abnormality of vision5NECAP1 CL E G H25977442835ORPHA0110224539611623
HP:0000504HP:0000504Abnormality of vision5NTRK2 CL E G H4915442835ORPHA0131078032600456
HP:0000504HP:0000504Abnormality of vision5NUS1 CL E G H116150442835ORPHA0227621042610463
HP:0000504HP:0000504Abnormality of vision5POLR1A CL E G H258851200Cerebellum agenesis hydrocephalyORPHA0515117264616404
HP:0000504HP:0000504Abnormality of vision5PPP3CA CL E G H5530442835ORPHA011669314114105
HP:0000504HP:0000504Abnormality of vision5PSEN1 CL E G H56631020ORPHA03204059508104311
HP:0000504HP:0000504Abnormality of vision5PSEN2 CL E G H56641020ORPHA0681979509600759
HP:0000504HP:0000504Abnormality of vision5PYCR1 CL E G H58312078ORPHA0411639721179035
HP:0000504HP:0000504Abnormality of vision5SALL1 CL E G H6299857Benign familial infantile epilepsyORPHA08823810524602218
HP:0000504HP:0000504Abnormality of vision5SCN3A CL E G H6328442835ORPHA01970710590182391
HP:0000504HP:0000504Abnormality of vision5SCN8A CL E G H6334442835ORPHA0103107410596600702
HP:0000504HP:0000504Abnormality of vision5SEMA3E CL E G H9723138ORPHA0432710727608166
HP:0000504HP:0000504Abnormality of vision5SLC13A5 CL E G H284111442835ORPHA02142823089608305
HP:0000504HP:0000504Abnormality of vision5SLC1A2 CL E G H6506442835ORPHA086510940600300
HP:0000504HP:0000504Abnormality of vision5SNAP29 CL E G H934266631ORPHA01356211133604202
HP:0000504HP:0000504Abnormality of vision5SORL1 CL E G H66531020ORPHA013613311185602005
HP:0000504HP:0000504Abnormality of vision5STXBP1 CL E G H6812442835ORPHA019570611444602926
HP:0000504HP:0000504Abnormality of vision5SYNGAP1 CL E G H8831442835ORPHA08679611497603384
HP:0000504HP:0000504Abnormality of vision5SYNJ1 CL E G H8867442835ORPHA02772311503604297
HP:0000504HP:0000504Abnormality of vision5SZT2 CL E G H23334442835ORPHA025160929040615463
HP:0000504HP:0000504Abnormality of vision5TOMM40 CL E G H104521020ORPHA031318001608061
HP:0000504HP:0000504Abnormality of vision5TRAF3IP2 CL E G H107581334ORPHA051331343607043
HP:0000504HP:0000504Abnormality of vision5TRAK1 CL E G H22906442835ORPHA063829947608112
HP:0000504HP:0000504Abnormality of vision5TREM2 CL E G H542091020ORPHA0566417761605086
HP:0000504HP:0000504Abnormality of vision5TUBB2B CL E G H3477331766ORPHA03013630829612850
HP:0000504HP:0000504Abnormality of vision5TXNL4A CL E G H109071200Cerebellum agenesis hydrocephalyORPHA01319130551611595