Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
visual system homeobox 2
Synonyms:
Hox-10,  Hox10,  Chx10

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Vsx2 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Vsx2 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Microphthalmia, Isolated 2
Microphthalmia OMIM:610093
Microphthalmia/Coloboma 3
Cataract, Iris coloboma, Microphthalmia OMIM:610092

The table below shows human diseases predicted to be associated to Vsx2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Choroidal Dystrophy, Central Areolar, 1
Pigmentary retinopathy, Choriocapillaris atrophy, Chorioretinal atrophy OMIM:215500
Retinal Dysplasia, Primary
Retinal dysplasia, Falciform retinal fold OMIM:312550
Nanophthalmos
Abnormality of retinal pigmentation, Abnormal choroid morphology, Microphthalmia ORPHA:35612
Night Blindness, Congenital Stationary, Type 1D
Pigmentary retinopathy, Attenuation of retinal blood vessels, Congenital stationary night blindne... OMIM:613830
Retinitis Pigmentosa 36
Macular degeneration, Attenuation of retinal blood vessels, Bone spicule pigmentation of the reti... OMIM:610599
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Optic atrophy, Abnormality of retinal pigmentation, Microphthalmia ORPHA:1574
Leber Congenital Amaurosis 13
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... OMIM:612712
Grouped Pigmentation Of The Retina
Abnormality of retinal pigmentation OMIM:233800
X-Linked Retinal Dysplasia
Retinal dysplasia, Abnormal retinal vascular morphology, Abnormality of retinal pigmentation ORPHA:1852
Persistent Placoid Maculopathy
Hypoplasia of the fovea, Choroidal neovascularization, Retinal pigment epithelial mottling, Abnor... ORPHA:97341
Microphthalmia/Coloboma 4
Microcornea, Coloboma, Orbital cyst, Microphthalmia OMIM:251505
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia, Retinal degeneration OMIM:251700
Cleft Lip-Retinopathy Syndrome
Retinopathy, Abnormality of retinal pigmentation ORPHA:1995
Blindness-Scoliosis-Arachnodactyly Syndrome
Cataract, Abnormality of retinal pigmentation, Retinal detachment, Lens subluxation, Microphakia ORPHA:171844
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Anophthalmia, Microphthalmia ORPHA:85275
Microphthalmia/Coloboma 10
Chorioretinal coloboma, Anophthalmia, Microcoria, Microphthalmia, Iris coloboma, Optic pit OMIM:616428
Premature Ovarian Failure 12
Macular dystrophy, Microphthalmia OMIM:616947
Anterior Segment Dysgenesis 8
Cataract, Ectopia lentis, Ectopia pupillae, Hypoplasia of the iris, Uveal ectropion, Optic nerve ... OMIM:617319
Microphthalmia/Coloboma 12
Peters anomaly, Optic disc coloboma, Chorioretinal coloboma, Optic nerve aplasia, Corneal opacity... OMIM:120200
Macular Dystrophy, Retinal, 2
Granular macular appearance, Perifoveal ring of hyperautofluorescence, Macular dystrophy, Retinal... OMIM:608051
Microphthalmia/Coloboma 7
Inferior chorioretinal coloboma, Iris coloboma, Microphthalmia OMIM:614497
Retinitis Pigmentosa 40
Cataract, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone... OMIM:613801
Retinitis Pigmentosa 39
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:613809
Retinopathy, Pericentral Pigmentary, Dominant
Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinopathy, Retinal atrophy, Bone ... OMIM:180210
Microphthalmia/Coloboma 6
Hypoplasia of the fovea, Coloboma, Optic disc hypoplasia, Bilateral microphthalmos OMIM:613703
Bardet-Biedl Syndrome 13
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:615990
Choroideremia
Pigmentary retinopathy, Hypopigmentation of the fundus, Retinal pigment epithelial mottling, Numm... OMIM:303100
Night Blindness, Congenital Stationary, Autosomal Dominant 1
Bone spicule pigmentation of the retina, Congenital stationary night blindness OMIM:610445
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia, Chorioretinal dysplasia OMIM:616335
Sorsby Pseudoinflammatory Fundus Dystrophy
Choroidal neovascularization, Pigmentary retinopathy, Abnormal fundus autofluorescence imaging, H... ORPHA:59181
Optic Nerve Hypoplasia, Bilateral
Optic nerve aplasia, Morning glory anomaly, Remnants of the hyaloid vascular system, Optic nerve ... OMIM:165550
Blue Cone Monochromatism
Corneal dystrophy, Abnormality of retinal pigmentation ORPHA:16
Nephronophthisis
Abnormality of retinal pigmentation ORPHA:655
Female Infertility Due To Oocyte Meiotic Arrest
Abnormal meiosis, Female infertility, Oocyte arrest at metaphase I ORPHA:488191
Homocarnosinosis
Abnormality of retinal pigmentation, Abnormality of skin pigmentation OMIM:236130
Central Areolar Choroidal Dystrophy
Hypopigmentation of the fundus, Retinal pigment epithelial mottling, Hyperautofluorescent macular... ORPHA:75377
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Cataract, Abnormality of retinal pigmentation, Optic disc pallor, Retinal detachment, Abnormality... OMIM:251270
Retinitis Pigmentosa 9
Cataract, Macular edema, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular atr... OMIM:180104
Congenital Primary Aphakia
Corneal perforation, Optic disc coloboma, Aniridia, Aplasia/Hypoplasia affecting the anterior seg... ORPHA:83461
Retinitis Pigmentosa 84
Cataract, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone... OMIM:618220
Retinitis Pigmentosa 30
Optic atrophy, Attenuation of retinal blood vessels, Chorioretinal atrophy, Bone spicule pigmenta... OMIM:607921
Familial Drusen
Peripapillary chorioretinal atrophy, Choroidal neovascularization, Subretinal fluid, Reticular pi... ORPHA:75376
Retinitis Pigmentosa 47
Pigmentary retinopathy, Chorioretinal atrophy, Rod-cone dystrophy OMIM:613758
Microphthalmia, Isolated 5
Cataract, Foveoschisis, Cystoid macular edema, Optic disc drusen, Optic disc pallor, Bone spicule... OMIM:611040
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome
Abnormality of retinal pigmentation ORPHA:2579
Retinitis Pigmentosa 4
Cataract, Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal atrophy, Bone spi... OMIM:613731
Retinitis Pigmentosa 33
Attenuation of retinal blood vessels, Optic disc pallor, Bone spicule pigmentation of the retina,... OMIM:610359
Nystagmus 6, Congenital, X-Linked
Astigmatism, Hypopigmentation of the fundus, Retinal pigment epithelial mottling OMIM:300814
Oocyte/Zygote/Embryo Maturation Arrest 2
Oocyte arrest at metaphase I, Female infertility OMIM:616780
Oocyte/Zygote/Embryo Maturation Arrest 4
Oocyte arrest at metaphase I, Female infertility OMIM:617743
Liberfarb Syndrome
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial mottling, ... OMIM:618889
Retinitis Pigmentosa 57
Attenuation of retinal blood vessels, Cystoid macular edema, Bone spicule pigmentation of the ret... OMIM:613582
Oocyte/Zygote/Embryo Maturation Arrest 14
Female infertility, Oocyte maturation arrest OMIM:620276
Oocyte/Zygote/Embryo Maturation Arrest 5
Female infertility, Lack of oocyte pronucleus formation OMIM:617996
Microphthalmia, Isolated 2
Microphthalmia OMIM:610093
Retinitis Pigmentosa 32
Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal degeneration, Photoreceptor... OMIM:609913
Oocyte/Zygote/Embryo Maturation Arrest 9
Abnormality of the menstrual cycle, Oocyte arrest at metaphase I, Female infertility OMIM:619011
Cone-Rod Dystrophy 5
Macular degeneration, Retinal pigment epithelial mottling, Cone/cone-rod dystrophy OMIM:600977
Spermatogenic Failure 35
Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Male infe... OMIM:618341
Stargardt Disease 1
Retinitis pigmentosa inversa, Macular degeneration, Bull's eye maculopathy OMIM:248200
Retinitis Pigmentosa 81
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... OMIM:617871
Spermatogenic Failure 20
Male infertility, Short sperm flagella, Absent sperm flagella, Coiled sperm flagella OMIM:617593
Retinitis Pigmentosa 54
Rod-cone dystrophy, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina... OMIM:613428
Foveal Hypoplasia 2
Foveal hyperpigmentation, Astigmatism, Optic nerve misrouting, Axenfeld anomaly, Hypoplasia of th... OMIM:609218
Cone-Rod Dystrophy 16
Cataract, Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Beaten bronze macular sh... OMIM:614500
Progressive Cone Dystrophy
Abnormality of retinal pigmentation ORPHA:1871
Retinitis Pigmentosa 96
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal thinning OMIM:620228
Oocyte/Zygote/Embryo Maturation Arrest 21
Female infertility OMIM:620610
Oocyte/Zygote/Embryo Maturation Arrest 13
Female infertility OMIM:620154
Retinopathy, Pericentral Pigmentary, Autosomal Recessive
Pigmentary retinopathy, Astigmatism OMIM:268060
Retinitis Pigmentosa 13
Attenuation of retinal blood vessels, Asteroid hyalosis, Cystoid macular edema, Retinal degenerat... OMIM:600059
Oocyte/Zygote/Embryo Maturation Arrest 12
Female infertility OMIM:619697
Spermatogenic Failure 72
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Reduced progressive spe... OMIM:619867
Spermatogenic Failure 34
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Short sperm flagella, A... OMIM:618153
Ataxia-Tapetoretinal Degeneration Syndrome
Pigmentary retinopathy, Rod-cone dystrophy ORPHA:1178
Retinitis Pigmentosa 61
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:614180
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Cystoid macular degeneration, Macular atrophy, Retinal degeneration, Microphthalmia, Shallow ante... OMIM:267760
Retinitis Pigmentosa 95
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... OMIM:620102
Premature Ovarian Failure 19
Irregular menstruation, Premature ovarian insufficiency, Female infertility, Secondary amenorrhea OMIM:619245
Spermatogenic Failure 33
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:618152
Spermatogenic Failure 37
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:618429
Spermatogenic Failure 18
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:617576
Spermatogenic Failure 46
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:619095
Spermatogenic Failure 27
Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Reduced s... OMIM:617965
Spermatogenic Failure, X-Linked, 5
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s... OMIM:301099
Retinitis Pigmentosa 62
Attenuation of retinal blood vessels, Bull's eye maculopathy, Bone spicule pigmentation of the re... OMIM:614181
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:2246
Macular Degeneration, Age-Related, 13
Choroidal neovascularization, Macular degeneration, Macular scar, Drusen OMIM:615439
Progressive Bifocal Chorioretinal Atrophy
Chorioretinal dystrophy, Pigmentary retinopathy, Macular atrophy ORPHA:75373
Retinitis Pigmentosa 68
Retinal atrophy, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:615725
Oculoauricular Syndrome
Posterior synechiae of the anterior chamber, Chorioretinal coloboma, Cone/cone-rod dystrophy, Pos... OMIM:612109
Spermatogenic Failure 43
Absent sperm axoneme central pair complex, Absent sperm flagella, Reduced sperm motility, Male in... OMIM:618751
Spermatogenic Failure 19
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:617592
Spermatogenic Failure 82
Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Male infertility... OMIM:620353
Spermatogenic Failure 49
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:619144
Spermatogenic Failure 45
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:619094
Microphthalmia, Isolated 1
Anophthalmia, Microphthalmia OMIM:251600
Coats Disease
Cataract, Abnormal macular morphology, Aplasia/Hypoplasia of the iris, Abnormal retinal vascular ... ORPHA:190
Morning Glory Disc Anomaly
Cataract, Retinal detachment, Abnormality of retinal pigmentation, Optic disc coloboma ORPHA:35737
Microphthalmia/Coloboma 5
Bilateral microphthalmos, Chorioretinal coloboma, Anophthalmia, Microphthalmia, Iris coloboma OMIM:611638
Microphthalmia, Isolated 8
Short palpebral fissure, Hypoplastic optic chiasm, Retinal coloboma, True anophthalmia, Anophthal... OMIM:615113
Retinitis Pigmentosa 11
Macular edema, Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy,... OMIM:600138
Nanophthalmos 4
Optic disc drusen, Microphthalmia OMIM:615972
Leber Congenital Amaurosis 8
Cataract, Pigmentary retinopathy, Keratoconus, Nummular pigmentation of the fundus, Choriocapilla... OMIM:613835
Microphthalmia, Isolated 4
Absent testis, Coloboma, Microphthalmia OMIM:613094
Retinitis Pigmentosa 76
Retinal thinning, Hyperautofluorescent macular lesion, Peripapillary atrophy, Cystoid macular ede... OMIM:617123
Retinitis Pigmentosa 87 With Choroidal Involvement
Pigmentary retinopathy, Nummular pigmentation of the fundus, Chorioretinal atrophy, Bone spicule ... OMIM:618697
Leber Congenital Amaurosis With Early-Onset Deafness
Peripapillary atrophy, Retinal pigment epithelial mottling, Retinal degeneration OMIM:617879
Pigmented Paravenous Chorioretinal Atrophy
Bone spicule pigmentation of the retina, Vitreoretinopathy, Paravenous chorioretinal atrophy OMIM:172870
Spermatogenic Failure 57
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility, Decreased testi... OMIM:619528
Stargardt Disease
Abnormality of macular pigmentation, Macular degeneration, Retinal pigment epithelial mottling, R... ORPHA:827
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Pigmentary retinopathy OMIM:609016
Spermatogenic Failure 73
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619878
Spermatogenic Failure 59
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619645
Spermatogenic Failure 60
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619646
Spermatogenic Failure 74
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619937
Retinitis Pigmentosa 48
Macular degeneration, Rod-cone dystrophy OMIM:613827
Spermatogenic Failure 62
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:619673
Spermatogenic Failure 61
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:619672
Spermatogenic Failure 88
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:620547
Retinitis Pigmentosa 7
Pigmentary retinopathy, Attenuation of retinal blood vessels, Chorioretinal atrophy, Rod-cone dys... OMIM:608133
Partial Chromosome Y Deletion
Decreased testicular size, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal... ORPHA:1646
Spermatogenic Failure 25
Cryptozoospermia, Non-obstructive azoospermia, Decreased testicular size, Spermatocyte maturation... OMIM:617960
Spermatogenic Failure 83
Altered location of the longitudinal column in the fibrous sheath, Reduced progressive sperm moti... OMIM:620354
Spermatogenic Failure 84
Reduced sperm motility, Irregularly shaped sperm tail, Reduced progressive sperm motility, Short ... OMIM:620409
Spermatogenic Failure 65
Reduced sperm motility, Irregularly shaped sperm tail, Reduced progressive sperm motility, Abnorm... OMIM:619712
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Cataract, Optic atrophy, Chorioretinal coloboma, Posterior embryotoxon, Ptosis, Retinal detachmen... ORPHA:1473
Microphthalmia, Isolated 6
Retinal fold, Microcornea, Microphthalmia OMIM:613517
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Microcornea, Chorioretinal coloboma, Remnants of the hyaloid vascular system, Microphthalmia, Pos... ORPHA:231736
Idiopathic Uveal Effusion Syndrome
Subretinal fluid, Exudative retinal detachment, Abnormal anterior eye segment morphology, Microph... ORPHA:209956
Spermatogenic Failure, X-Linked, 3
Reduced sperm motility, Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagell... OMIM:301059
Spermatogenic Failure 56
Reduced sperm motility, Irregularly shaped sperm tail, Reduced progressive sperm motility, Short ... OMIM:619515
Retinitis Pigmentosa 28
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:606068
Retinitis Pigmentosa 90
Attenuation of retinal blood vessels, Cystoid macular edema, Bone spicule pigmentation of the ret... OMIM:619007
Retinitis Pigmentosa 86
Nummular pigmentation of the fundus, Attenuation of retinal blood vessels, Cystoid macular edema,... OMIM:618613
Central Retinal Vein Occlusion
Pigmentary retinopathy, Macular degeneration, Macular edema, Retinal vascular tortuosity, Abnorma... ORPHA:411527
Spermatogenic Failure 40
Short sperm flagella, Immotile sperm, Absent sperm flagella, Oligozoospermia, Male infertility, C... OMIM:618664
Microphthalmia/Coloboma 3
Cataract, Iris coloboma, Microphthalmia OMIM:610092
Retinitis Pigmentosa 17
Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:600852
Spermatogenic Failure 80
Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Oligozoospermia,... OMIM:620222
Spermatogenic Failure 76
Reduced sperm motility, Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagell... OMIM:620084
Bothnia Retinal Dystrophy
Pigmentary retinopathy, Macular degeneration, Retinal pigment epithelial mottling, Abnormal choro... ORPHA:85128
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Retinal dysplasia OMIM:615041
Spermatogenic Failure 50
Spermatogenesis maturation arrest, Decreased testicular size, Azoospermia, Male infertility OMIM:619145
Oocyte/Zygote/Embryo Maturation Arrest 10
Female infertility OMIM:619176
Spermatogenic Failure 47
Short sperm flagella, Immotile sperm, Absent sperm flagella, Oligozoospermia, Male infertility OMIM:619102
Leber Congenital Amaurosis 2
Cataract, Pigmentary retinopathy, Keratoconus, Attenuation of retinal blood vessels, Fundus atrop... OMIM:204100
Spermatogenic Failure 58
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Immotile... OMIM:619585
Anterior Segment Dysgenesis 2
Cataract, Microcornea, Peters anomaly, Posterior synechiae of the anterior chamber, Aniridia, Col... OMIM:610256
Retinitis Pigmentosa 80
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Macular atrophy OMIM:617781
Bietti Crystalline Dystrophy
Pigmentary retinopathy, Retinal pigment epithelial mottling, Retinal thinning, Choriocapillaris a... ORPHA:41751
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Coloboma, Ocular anterior segment dysgenesis, Developmental cataract, Microphthalmia, Retinal dys... ORPHA:324416
Bornholm Eye Disease
Astigmatism, Abnormality of retinal pigmentation, Optic nerve hypoplasia OMIM:300843
Hydatidiform Mole, Recurrent, 3
Female infertility OMIM:618431
Hydatidiform Mole, Recurrent, 4
Female infertility OMIM:618432
Retinitis Pigmentosa 27
Peripapillary chorioretinal atrophy, Macular edema, Attenuation of retinal blood vessels, Chorior... OMIM:613750
Spermatogenic Failure 30
Cryptozoospermia, Azoospermia, Cryptorchidism, Spermatogenesis maturation arrest, Male infertility OMIM:618110
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
Spermatogenic Failure 54
Abnormal sperm axoneme morphology, Cryptozoospermia, Tapered sperm head, Short sperm flagella, Ol... OMIM:619379
Retinal Degeneration And Epilepsy
Retinal degeneration OMIM:267740
Spermatogenic Failure 17
Male infertility OMIM:617214
Spermatogenic Failure 48
Spermatogenesis maturation arrest, Azoospermia, Oligozoospermia, Male infertility OMIM:619108
Retinitis Pigmentosa 69
Pigmentary retinopathy, Perifoveal hypoautofluorescence, Rod-cone dystrophy OMIM:615780
Spermatogenic Failure 42
Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Absent sperm flagella, Reduce... OMIM:618745
Neuropathy, Ataxia, And Retinitis Pigmentosa
Retinopathy, Retinal pigment epithelial mottling, Rod-cone dystrophy OMIM:551500
Exudative Vitreoretinopathy 2, X-Linked
Exudative vitreoretinopathy, Peripheral retinal avascularization, Retinal vascular tortuosity, Su... OMIM:305390
Spermatogenic Failure 39
Reduced sperm motility, Tapered sperm head, Short sperm flagella, Absent sperm flagella, Oligozoo... OMIM:618643
Retinitis Pigmentosa 88
Macular degeneration, Attenuation of retinal blood vessels, Cystoid macular edema, Bone spicule p... OMIM:618826
Spermatogenic Failure 78
Microcephalic sperm head, Tapered sperm head, Male infertility OMIM:620170
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Cataract, Iris coloboma, Chorioretinal coloboma, Microphthalmia OMIM:120433
Cone Rod Dystrophy
Abnormality of retinal pigmentation ORPHA:1872
Cone-Rod Dystrophy 24
Pigmentary retinopathy, Macular degeneration, Attenuation of retinal blood vessels, Cone/cone-rod... OMIM:620342
Retinitis Pigmentosa 46
Pigmentary retinopathy, Posterior subcapsular cataract, Attenuation of retinal blood vessels, Rod... OMIM:612572
Spermatogenic Failure 79
Male infertility, Reduced sperm motility, Oligozoospermia, Coiled sperm flagella OMIM:620196
Spermatogenic Failure 11
Male infertility, Abnormal sperm morphology, Oligozoospermia, Reduced sperm motility OMIM:615081
Spermatogenic Failure 10
Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia, Male infertility OMIM:614822
Iris Pigment Layer, Cleavage Of
Cataract, Peripheral retinal detachment OMIM:147610
Achromatopsia
Inner retinal layer loss on macular OCT, Retinal pigment epithelial mottling, Abnormal macular mo... ORPHA:49382
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Cataract, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone... OMIM:616108
Spermatogenic Failure 32
Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility OMIM:618115
Spermatogenic Failure 71
Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility OMIM:619831
Spermatogenic Failure 63
Decreased testicular size, Reduced progressive sperm motility, Oligozoospermia, Male infertility OMIM:619689
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Retinal dysplasia, Microphthalmia OMIM:614830
Oocyte/Zygote/Embryo Maturation Arrest 11
Female infertility OMIM:619643
Oocyte/Zygote/Embryo Maturation Arrest 7
Female infertility OMIM:618550
Oocyte/Zygote/Embryo Maturation Arrest 6
Female infertility OMIM:618353
Progesterone Resistance
Female infertility OMIM:264080
Oocyte/Zygote/Embryo Maturation Arrest 18
Female infertility OMIM:620332
Oocyte/Zygote/Embryo Maturation Arrest 19
Female infertility OMIM:620333
Oocyte/Zygote/Embryo Maturation Arrest 15
Female infertility OMIM:616814
Oocyte/Zygote/Embryo Maturation Arrest 1
Female infertility OMIM:615774
Oocyte/Zygote/Embryo Maturation Arrest 3
Female infertility OMIM:617712
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Exudative Vitreoretinopathy 7
Exudative vitreoretinopathy, Retinal degeneration, Retinal detachment, Retinal hole, Retinal fold OMIM:617572
Spermatogenic Failure 1
Cryptozoospermia, Oligozoospermia, Male infertility OMIM:258150
Spermatogenic Failure 41
Tapered sperm head, Short sperm flagella, Immotile sperm, Oligozoospermia, Male infertility OMIM:618670
Spermatogenic Failure 7
Immotile sperm, Reduced sperm motility, Oligozoospermia, Male infertility OMIM:612997
Retinitis Pigmentosa 19
Attenuation of retinal blood vessels, Optic disc pallor, Bone spicule pigmentation of the retina,... OMIM:601718
Male Infertility Due To Acephalic Spermatozoa
Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Oligozoospermia, Reduced sperm motili... ORPHA:529970
Retinitis Pigmentosa 77
Posterior subcapsular cataract, Attenuation of retinal blood vessels, Cystoid macular edema, Reti... OMIM:617304
Cataract 9, Multiple Types
Cataract, Microcornea, Progressive cataract, Developmental cataract, Microphthalmia, Iris coloboma OMIM:604219
Macular Degeneration, Early-Onset
Choroidal neovascularization, Macular degeneration OMIM:616118
Microphthalmia, Syndromic 13
Microcornea, Chorioretinal coloboma, Ptosis, Microphthalmia, Iris coloboma OMIM:300915
Spermatogenic Failure 5
Multiflagellar spermatozoa, Macrozoospermia, Male infertility OMIM:243060
Aniridia-Intellectual Disability Syndrome
Cataract, Aniridia, Ectopia lentis, Optic nerve hypoplasia ORPHA:1068
Macular Degeneration, Age-Related, 11
Macular degeneration OMIM:611953
Macular Degeneration, Age-Related, 4
Macular degeneration OMIM:610698
Macular Degeneration, Age-Related, 7
Macular degeneration OMIM:610149
Macular Degeneration, Age-Related, 2
Macular degeneration OMIM:153800
Macular Degeneration, Age-Related, 6
Macular degeneration OMIM:613757
Macular Degeneration, Age-Related, 15
Macular degeneration OMIM:615591
Premature Ovarian Failure 2B
Premature ovarian insufficiency, Female infertility, Primary amenorrhea OMIM:300604
Ceroid Lipofuscinosis, Neuronal, 7
Optic atrophy, Pigmentary retinopathy, Retinopathy OMIM:610951
Exudative Vitreoretinopathy 3
Retinal exudate, Exudative vitreoretinopathy, Retinal detachment, Retinal hole, Retinal fold OMIM:605750
Oocyte/Zygote/Embryo Maturation Arrest 8
Abnormality of the menstrual cycle, Female infertility OMIM:619009
Vitreoretinochoroidopathy
Pigmentary retinopathy, Microcornea, Retinal arteriolar constriction, Abnormality of chorioretina... OMIM:193220
Retinitis Pigmentosa 6
Pigmentary retinopathy, Chorioretinal degeneration, Rod-cone dystrophy OMIM:312612
Hereditary Liability to Pressure Palsies (HNPP)
Abnormal motor neuron morphology DECIPHER:31
Spermatogenic Failure 22
Cryptozoospermia, Non-obstructive azoospermia, Male infertility OMIM:617706
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Peters anomaly, Coloboma, Ocular anterior segment dysgenesis, Microphthalmia, Iris coloboma OMIM:610023
Spermatogenic Failure 21
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617644
Spermatogenic Failure 16
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617187
Spermatogenic Failure 29
Non-obstructive azoospermia, Immotile sperm, Male infertility OMIM:618091
Usher Syndrome, Type Iv
Hyperautofluorescent macular lesion, Bone spicule pigmentation of the retina, Retinal atrophy, Re... OMIM:618144
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features
Optic atrophy, Upslanted palpebral fissure, Hypoplasia of the fovea, Epicanthus, Ptosis, Iris cyst OMIM:620086
Stargardt Disease 4
Macular degeneration, Retinal flecks OMIM:603786
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Cataract, Chorioretinal coloboma, Corneal scarring, Retinal detachment, Macular atrophy, Micropht... OMIM:212550
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Abnormal sperm morphology, Immotile sperm, Male infertility OMIM:608653
Spermatogenic Failure 86
Acephalic spermatozoa, Acrosomal hypoplasia, Abnormal sperm head morphology, Ruffled acrosome, Ma... OMIM:620499
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 53
Tapered sperm head, Male infertility OMIM:619258
Spermatogenic Failure 87
Ruffled acrosome, Male infertility OMIM:620500
Spermatogenic Failure 26
Acephalic spermatozoa, Male infertility OMIM:617961
Cataract 50 With Or Without Glaucoma
Cataract, Persistent pupillary membrane, Retinal detachment OMIM:620253
Retinal Cone Dystrophy 4
Retinal pigment epithelial mottling, Cone/cone-rod dystrophy OMIM:610478
Ring Chromosome Y Syndrome
Male hypogonadism, Female infertility, Abnormality of the male genitalia, Bifid scrotum, Gonadal ... ORPHA:261529
Choroideremia
Abnormality of retinal pigmentation ORPHA:180
Retinitis Pigmentosa 56
Pigmentary retinopathy, Posterior subcapsular cataract, Nuclear cataract, Attenuation of retinal ... OMIM:613581
Isochromosomy Yp
Decreased testicular size, Azoospermia, Ambiguous genitalia, Male infertility ORPHA:98797
Late-Onset Retinal Degeneration
Choroidal neovascularization, Retinopathy, Retinal degeneration, Chorioretinal degeneration, Sub-... OMIM:605670
Deafness-Infertility Syndrome
Abnormal sperm head morphology, Reduced sperm motility, Abnormal spermatogenesis, Male infertilit... OMIM:611102
Spermatogenic Failure, X-Linked, 6
Absent sperm axoneme central pair complex, Abnormal male external genitalia morphology, Microceph... OMIM:301101
Cataract 21, Multiple Types
Iris coloboma, Microcornea, Peters anomaly, Cerulean cataract, Macular hypoplasia, Retinal detach... OMIM:610202
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Retinitis Pigmentosa 10
Posterior subcapsular cataract, Attenuation of retinal blood vessels, Bull's eye maculopathy, Bon... OMIM:180105
Retinitis Pigmentosa 79
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... OMIM:617460
Cone-Rod Dystrophy, X-Linked, 1
Retinal pigment epithelial atrophy, Hypoautofluorescent macular lesion, Retinal pigment epithelia... OMIM:304020
Hyperprolactinemia
Oligomenorrhea, Female infertility, Menorrhagia OMIM:615555
Spermatogenic Failure 64
Male infertility, Reduced progressive sperm motility, Abnormal sperm head morphology, Oligozoospe... OMIM:619696
Retinitis Pigmentosa 83
Posterior subcapsular cataract, Attenuation of retinal blood vessels, Asteroid hyalosis, Vitreous... OMIM:618173
Microphthalmia, Syndromic 3
Cataract, Optic nerve aplasia, Anophthalmia, Coloboma, Microphthalmia, Sclerocornea, Patent ductu... OMIM:206900
Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome
Microphthalmia, Cataract, Rod-cone dystrophy, Retinal coloboma OMIM:601794
Exudative Vitreoretinopathy 5
Retinal exudate, Exudative vitreoretinopathy, Tractional retinal detachment, Shallow anterior cha... OMIM:613310
Retinitis Pigmentosa 2
Cataract, Pigmentary retinopathy, Bull's eye maculopathy, Fundus atrophy, Chorioretinal degenerat... OMIM:312600
Dihydropyrimidine Dehydrogenase Deficiency
Optic atrophy, Coloboma, Microphthalmia OMIM:274270
Spermatogenic Failure 70
Azoospermia, Reduced sperm motility, Oligozoospermia, Male infertility OMIM:619828
Leber Congenital Amaurosis 19
Optic disc pallor, Attenuation of retinal blood vessels, Retinal degeneration OMIM:618513
Facial Clefting, Oblique, 1
Coloboma, Microphthalmia OMIM:600251
Spinal Muscular Atrophy, Segmental
Abnormal anterior horn cell morphology OMIM:183020
Isochromosomy Yq
Varicocele, Male infertility, Decreased testicular size, Azoospermia, Ambiguous genitalia, Gonada... ORPHA:98798
Familial Exudative Vitreoretinopathy
Cataract, Macular edema, Vitreoretinopathy, Subretinal fluid, Epiretinal membrane, Tractional ret... ORPHA:891
Biemond Syndrome Type 2
Hypogonadism, Hypogonadotropic hypogonadism, Coloboma, Microphthalmia, Hypospadias ORPHA:141333
Leber Congenital Amaurosis 9
Optic atrophy, Keratoconus, Retinal pigment epithelial mottling, Attenuation of retinal blood ves... OMIM:608553
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Microphthalmia, Cataract, Rod-cone dystrophy, Retinal coloboma ORPHA:363741
Retinoschisis 1, X-Linked, Juvenile
Mizuo phenomenon, Retinal degeneration, Vitreous hemorrhage, Retinal atrophy, Retinal detachment,... OMIM:312700
Retinitis Pigmentosa 73
Epiretinal membrane, Peripapillary atrophy, Retinal atrophy, Bone spicule pigmentation of the ret... OMIM:616544
Spermatogenic Failure 52
Azoospermia, Male infertility OMIM:619202
Spermatogenic Failure 4
Azoospermia, Male infertility OMIM:270960
Spermatogenic Failure, Y-Linked, 2
Azoospermia, Male infertility OMIM:415000
Spermatogenic Failure 23
Azoospermia, Male infertility OMIM:617707
Retinitis Pigmentosa 43
Pigmentary retinopathy, Posterior subcapsular cataract, Attenuation of retinal blood vessels, Bon... OMIM:613810
Spermatogenic Failure 3
Male infertility, Reduced sperm motility OMIM:606766
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Macular Degeneration, Atrophic, X-Linked
Macular degeneration OMIM:300834
Oocyte/Zygote/Embryo Maturation Arrest 17
Amenorrhea, Female infertility OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20
Amenorrhea, Female infertility OMIM:620383
Leber Congenital Amaurosis
Abnormal optic disc morphology, Keratoconus, Abnormality of retinal pigmentation, Cataract ORPHA:65
Retinitis Pigmentosa 25
Posterior subcapsular cataract, Attenuation of retinal blood vessels, Chorioretinal atrophy, Bone... OMIM:602772
Autosomal Dominant Keratitis
Cataract, Microcornea, Keratitis, Bilateral microphthalmos, Abnormal corneal limbus morphology, A... ORPHA:2334
Spondylo-Ocular Syndrome
Iris hypopigmentation, Cataract, Retinal detachment, Aplasia/Hypoplasia of the lens, Microphthalmia ORPHA:85194
Retinitis Pigmentosa 92
Pigmentary retinopathy OMIM:619614
Hyperleucine-Isoleucinemia
Retinal degeneration OMIM:238340
Vitreoretinal Degeneration, Snowflake Type
Corneal guttata, Cataract, Retinal dots, Optically empty vitreous, Retinal detachment, Snowflake ... OMIM:193230
Newfoundland Rod-Cone Dystrophy
Bone spicule pigmentation of the retina, Retinal dystrophy OMIM:607476
2Q24 Microdeletion Syndrome
Cataract, Abnormality iris morphology, Downslanted palpebral fissures, Coloboma, Microphthalmia ORPHA:1617
Blepharoptosis-Myopia-Ectopia Lentis Syndrome
Iris coloboma, Ectopia lentis, Abnormality of retinal pigmentation ORPHA:1259
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Retinal dysplasia, Microphthalmia OMIM:615771
Leber Congenital Amaurosis 1
Keratoconus, Pigmentary retinopathy, Cataract, Attenuation of retinal blood vessels, Optic disc d... OMIM:204000
Myopia, High, With Cataract And Vitreoretinal Degeneration
Cataract, Lens subluxation, Vitreous floaters, Retinal detachment, Peripheral vitreoretinal degen... OMIM:614292
Birdshot Chorioretinopathy
Abnormal chorioretinal morphology, Choroidal neovascularization, Cataract, Retinal thinning, Epir... ORPHA:179
Congenital Stationary Night Blindness
Congenital stationary night blindness with abnormal fundus, Congenital stationary night blindness... ORPHA:215
Igg4-Related Ophthalmic Disease
Abnormal morphology of bony orbit of skull, Abnormal fifth cranial nerve morphology, Enlarged lac... ORPHA:449563
Retinitis Pigmentosa 1
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... OMIM:180100
Retinitis Pigmentosa 41
Pigmentary retinopathy, Macular degeneration, Attenuation of retinal blood vessels, Bone spicule ... OMIM:612095
Multiple Mitochondrial Dysfunctions Syndrome 5
Pigmentary retinopathy OMIM:617613
Anterior Segment Dysgenesis 5
Microcornea, Peters anomaly, Hypoplasia of the iris, Rieger anomaly, Microphthalmia, Hypoplasia o... OMIM:604229
Intellectual Developmental Disorder And Retinitis Pigmentosa
Posterior subcapsular cataract, Macular degeneration, Attenuation of retinal blood vessels, Perip... OMIM:618195
Oliver-Mcfarlane Syndrome
Pigmentary retinopathy, Central heterochromia, Retinal degeneration OMIM:275400
Cofs Syndrome
Optic atrophy, Cataract, Abnormality of retinal pigmentation, Microphthalmia ORPHA:1466
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction
Central retinal vessel vascular tortuosity, Retinal pigment epithelial mottling, Hyporeflective s... ORPHA:506353
Senior-Loken Syndrome
Cataract, Abnormality of retinal pigmentation, Retinal dystrophy ORPHA:3156
Spinocerebellar Ataxia, Autosomal Recessive 29
Optic disc pallor, Retinal pigment epithelial mottling OMIM:619389
Oculocutaneous Albinism Type 4
Iris hypopigmentation, Hypopigmentation of the skin, White hair, Ocular albinism, Abnormality of ... ORPHA:79435
Stickler Syndrome Type 2
Cataract, Retinopathy, Abnormal vitreous humor morphology, Retinal detachment, Corneal opacity ORPHA:90654
Microphthalmia, Syndromic 5
Ectopic posterior pituitary, Cataract, Microcornea, Cryptorchidism, Anophthalmia, Coloboma, Micro... OMIM:610125
Retinal Cone Dystrophy 1
Retinal degeneration, Bull's eye maculopathy, Cone/cone-rod dystrophy OMIM:180020
Gombo Syndrome
Microphthalmia OMIM:233270
Wagner Vitreoretinopathy
Peripheral tractional retinal detachment, Optic atrophy, Exudative vitreoretinopathy, Cataract, V... OMIM:143200
Cataract 11, Multiple Types
Cataract, Developmental cataract, Microphthalmia OMIM:610623
Cone-Rod Dystrophy 3
Pigmentary retinopathy, Attenuation of retinal blood vessels, Bull's eye maculopathy, Cone/cone-r... OMIM:604116
Norrie Disease
Optic atrophy, Cataract, Hypoplasia of the iris, Opacification of the corneal stroma, Buphthalmos... OMIM:310600
Deafness-Infertility Syndrome
Azoospermia, Male infertility ORPHA:94064
Microphthalmia, Syndromic 16
Anophthalmia, Microphthalmia OMIM:611038
Chorioretinal Atrophy, Progressive Bifocal
Chorioretinal dystrophy, Retinal detachment, Chorioretinal atrophy OMIM:600790
Spermatogenic Failure 81
Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia, Male infertility OMIM:620277
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Optic atrophy, Cataract, Microcornea, Retinopathy, Macular atrophy, Microphthalmia, Optic disc pa... OMIM:616171
Retinitis Pigmentosa 12
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... OMIM:600105
Retinitis Pigmentosa 45
Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:613767
Retinitis Pigmentosa 14
Posterior subcapsular cataract, Retinal arteriolar constriction, Bone spicule pigmentation of the... OMIM:600132
Myopia 28, Autosomal Recessive
Cataract, Retinal detachment OMIM:619781
Enhanced S-Cone Syndrome
Cataract, Pigmentary retinopathy, Macular edema, Vitreoretinopathy, Retinoschisis OMIM:268100
Nasopalpebral Lipoma-Coloboma Syndrome
Sparse eyebrow, Ectopic lacrimal punctum, Telecanthus, Lower eyelid coloboma, Absent lacrimal pun... OMIM:167730
Cat-Eye Syndrome
Downslanted palpebral fissures, Iris coloboma, Chorioretinal coloboma, Microphthalmia ORPHA:195
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement
Macular coloboma, Abnormality of retinal pigmentation, Chorioretinal coloboma ORPHA:2196
Reese Retinal Dysplasia
Retinal dysplasia, Remnants of the hyaloid vascular system OMIM:266400
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy
Pigmentary retinopathy OMIM:619090
Retinitis Pigmentosa 58
Macular degeneration, Attenuation of retinal blood vessels, Bone spicule pigmentation of the reti... OMIM:613617
Microcephaly-Microcornea Syndrome, Seemanova Type
Hypogonadism, Cataract, Microcornea, Microphthalmia ORPHA:2528
Microphthalmia/Coloboma 9
Microcornea, Ptosis, Retinal detachment, Ocular anterior segment dysgenesis, Microphthalmia, Scle... OMIM:615145
Retinal Dystrophy And Obesity
Attenuation of retinal blood vessels, Retinal dots, Peripapillary atrophy, Astigmatism, Retinal d... OMIM:616188
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility, Bilateral cryptorchidism OMIM:261550
Tricho-Retino-Dento-Digital Syndrome
Abnormality of retinal pigmentation, Juvenile cataract ORPHA:1264
Igg4-Related Dacryoadenitis And Sialadenitis
Enlarged lacrimal glands, Abnormal optic nerve morphology, Abnormality of the submandibular gland... ORPHA:79078
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome
Abnormality of retinal pigmentation ORPHA:2743
Asherman Syndrome
Abnormality of the menstrual cycle, Metrorrhagia, Dysmenorrhea, Decreased fertility in females, O... ORPHA:137686
Yemenite Deaf-Blind Hypopigmentation Syndrome
Microcornea, Chorioretinal coloboma, White forelock, Numerous pigmented freckles, Iris coloboma, ... OMIM:601706
Microcephaly-Cardiomyopathy Syndrome
Abnormality of retinal pigmentation ORPHA:2515
Joubert Syndrome 22
Retinal dysplasia, Coloboma, Microphthalmia OMIM:615665
Retinitis Pigmentosa 60
Posterior subcapsular cataract, Attenuation of retinal blood vessels, Optic disc pallor, Bone spi... OMIM:613983
Retinitis Pigmentosa 37
Cystoid macular degeneration, Pigmentary retinopathy, Nuclear cataract, Posterior subcapsular cat... OMIM:611131
Retinitis Pigmentosa 50
Attenuation of retinal blood vessels, Retinal flecks, Retinal detachment, Rod-cone dystrophy, Opt... OMIM:613194
Aplasia Cutis-Myopia Syndrome
Abnormality of retinal pigmentation ORPHA:1117
Macular Degeneration, Age-Related, 1
Choroidal neovascularization, Macular degeneration, Foveal hypopigmentation, Macular hemorrhage, ... OMIM:603075
Retinitis Pigmentosa 49
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... OMIM:613756
Retinal Dystrophy With Or Without Macular Staphyloma
Posterior subcapsular cataract, Nuclear cataract, Retinal pigment epithelial mottling, Attenuatio... OMIM:617547
Congenital Glaucoma
Retinal detachment ORPHA:98976
Hypotaurinemic Retinal Degeneration And Cardiomyopathy
Retinal pigment epithelial mottling, Peripheral retinal atrophy, Retinal thinning, Attenuation of... OMIM:145350
Eem Syndrome
Abnormality of retinal pigmentation, Macular dystrophy, Retinopathy ORPHA:1897
Retinitis Pigmentosa 70
Macular degeneration, Attenuation of retinal blood vessels, Retinal degeneration, Rod-cone dystro... OMIM:615922
Glutathione Synthetase Deficiency
Pigmentary retinopathy OMIM:266130
Retinitis Pigmentosa 66
Optic disc pallor, Posterior subcapsular cataract, Bone spicule pigmentation of the retina, Rod-c... OMIM:615233
Retinitis Pigmentosa 72
Posterior subcapsular cataract, Attenuation of retinal blood vessels, Peripapillary atrophy, Bone... OMIM:616469
Aniridia 1
Chorioretinal hypopigmentation, Cataract, Ectopia lentis, Retinal vascular tortuosity, Hypoplasia... OMIM:106210
Premature Ovarian Failure 22
Premature ovarian insufficiency, Female infertility, Secondary amenorrhea OMIM:620548
Sjögren-Larsson Syndrome
Macular degeneration, Generalized hyperpigmentation, Abnormality of retinal pigmentation, Retinop... ORPHA:816
Severe Early-Childhood-Onset Retinal Dystrophy
Posterior subcapsular cataract, Posterior synechiae of the anterior chamber, Retinal pigment epit... ORPHA:364055
Primary Lateral Sclerosis, Adult, 1
Abnormal upper motor neuron morphology OMIM:611637
Cone-Rod Dystrophy 20
Optic disc pallor, Bone spicule pigmentation of the retina, Cone/cone-rod dystrophy OMIM:615973
Premature Ovarian Failure 13
Amenorrhea, Hypoplasia of the uterus, Female infertility, Oligomenorrhea OMIM:617442
Cone-Rod Dystrophy 8
Macular degeneration, Retinal arteriolar constriction, Abnormal optic nerve morphology, Abnormali... OMIM:605549
Diprosopus
Abnormality of retinal pigmentation ORPHA:1681
Diabetes And Deafness, Maternally Inherited
Pigmentary retinopathy, Retinal degeneration OMIM:520000
Optic Atrophy 6
Optic atrophy, Retinal degeneration OMIM:258500
Adult-Onset Foveomacular Vitelliform Dystrophy
Vitelliform-like macular lesions, Retinal nonattachment, Iris hypopigmentation, Choroideremia ORPHA:99000
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis
Retinal arterial macroaneurysms, Exudative retinal detachment OMIM:614224
Retinitis Punctata Albescens
Pigmentary retinopathy, Retinal pigment epithelial mottling, Abnormality of fundus pigmentation, ... ORPHA:52427
Kearns-Sayre Syndrome
Abnormality of retinal pigmentation ORPHA:480
Spermatogenic Failure, X-Linked, 2
Spermatogenesis maturation arrest, Azoospermia, Testicular atrophy, Male infertility OMIM:309120
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Cataract, Aplasia/Hypoplasia of the lens ORPHA:1381
Coloboma Of Macula With Type B Brachydactyly
Coloboma OMIM:120400
Neovascular Glaucoma
Abnormal optic nerve morphology, Retinal vein occlusion, Rubeosis iridis, Uveal ectropion, Retino... ORPHA:94058
Retinitis Pigmentosa 75
Mixed astigmatism, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... OMIM:617023
Spinocerebellar Ataxia 7
Optic atrophy, Pigmentary retinopathy, Macular degeneration OMIM:164500
X-Linked Intellectual Disability, Najm Type
Cataract, Optic atrophy, Chorioretinal coloboma, Optic nerve hypoplasia ORPHA:163937
Spermatogenic Failure, X-Linked, 7
Excess residual spermatozoal cytoplasm, Multiflagellar spermatozoa, Globozoospermia, Reduced sper... OMIM:301106
Spermatogenic Failure 44
Decreased testicular size, Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:619044
Ectopia Lentis 1, Isolated, Autosomal Dominant
Ectopia lentis, Microspherophakia, Shallow anterior chamber, Retinal detachment OMIM:129600
Spermatogenic Failure 85
Acephalic spermatozoa, Reduced progressive sperm motility, Globozoospermia, Male infertility, Coi... OMIM:620490
Senior-Loken Syndrome 7
Retinal degeneration OMIM:613615
Temtamy Syndrome
Telecanthus, Iris coloboma, Chorioretinal coloboma, Microphthalmia ORPHA:1777
Oculocutaneous Albinism Type 1B
Iris hypopigmentation, Hypopigmentation of the skin, Abnormal optic nerve morphology, Melanocytic... ORPHA:79434
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microphthalmia, Microcornea, Corneal opacity ORPHA:2432
Isolated Congenital Alacrima
Keratitis, Lacrimal gland hypoplasia, Lacrimal punctal atresia, Distichiasis, Ptosis, Conjunctivi... ORPHA:91416
Otodental Syndrome
Cataract, Microcornea, Retinal coloboma, Microphthalmia, Lens coloboma, Iris coloboma ORPHA:2791
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Abnormal motor neuron morphology DECIPHER:29
Chromosome 16Q12 Duplication Syndrome
Cataract, Central thinning of the outer nuclear layer of the retina, Retinal pigment epithelial m... OMIM:619649
Baraitser-Winter Syndrome 2
Highly arched eyebrow, Telecanthus, Long palpebral fissure, Coloboma, Ptosis, Microphthalmia OMIM:614583
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Pigmentary retinopathy, Retinal degeneration ORPHA:3363
Retinitis Pigmentosa 3
Bone spicule pigmentation of the retina, Perifoveal hypoautofluorescence, Rod-cone dystrophy OMIM:300029
Persistent Hyperplastic Primary Vitreous
Cataract, Hyaloid vascular remnant and retrolental mass, Microcornea, Tractional retinal detachme... ORPHA:91495
Heimler Syndrome 1
Macular dystrophy, Retinal pigment epithelial mottling OMIM:234580
Jalili Syndrome
Retinal pigment epithelial mottling, Attenuation of retinal blood vessels, Cone/cone-rod dystroph... OMIM:217080
Spermatogenic Failure 38
Reduced sperm motility, Tapered sperm head, Abnormal sperm head morphology, Absent sperm flagella... OMIM:618433
Irvan Syndrome
Retinal exudate, Optic atrophy, Macular edema, Tractional retinal detachment, Vitreous floaters, ... ORPHA:209943
Congenital Toxoplasmosis
Abnormality of retinal pigmentation, Microphthalmia ORPHA:858
Alpha-Methylacyl-Coa Racemase Deficiency
Cataract, Pigmentary retinopathy, Rod-cone dystrophy OMIM:614307
Spermatogenic Failure 75
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:619949
Congenital Rubella Syndrome
Cataract, Aplasia/Hypoplasia of the iris, Abnormality of retinal pigmentation, Corneal opacity, M... ORPHA:290
Anterior Segment Dysgenesis 7
Cataract, Microcornea, Anterior synechiae of the anterior chamber, Sclerocornea, Ocular anterior ... OMIM:269400
Jalili Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:1873
Cone-Rod Dystrophy 10
Rod-cone dystrophy, Macular degeneration, Bone spicule pigmentation of the retina, Attenuation of... OMIM:610283
Retinitis Pigmentosa 51
Rod-cone dystrophy, Macular degeneration, Bone spicule pigmentation of the retina, Attenuation of... OMIM:613464
Premature Ovarian Failure 6
Female infertility, Streak ovary, Primary amenorrhea, Premature ovarian insufficiency, Hypoplasia... OMIM:612310
Stickler Syndrome, Type V
Cataract, Retinal detachment, Vitreoretinopathy OMIM:614284
14Q22Q23 Microdeletion Syndrome
Downslanted palpebral fissures, Optic nerve aplasia, Cryptorchidism, Anophthalmia, Epicanthus, Pt... ORPHA:264200
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Cataract, Microcornea, Coloboma, Shallow orbits, Generalized hypopigmentation, Microphthalmia, Ir... OMIM:617306
Aniridia 2
Cataract, Optic atrophy, Aniridia, Lens subluxation, Iris coloboma OMIM:617141
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome
Heterochromia iridis, Abnormal retinal vascular morphology, Abnormality of retinal pigmentation ORPHA:1390
Isolated Aniridia
Cataract, Aniridia, Peters anomaly, Aplasia/Hypoplasia of the macula ORPHA:250923
Laurence-Moon Syndrome
Pigmentary retinopathy, Chorioretinal atrophy OMIM:245800
Ramon Syndrome
Abnormal anterior chamber morphology, Abnormality of retinal pigmentation ORPHA:3019
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Abnormality of retinal pigmentation ORPHA:397951
Oculocutaneous Albinism Type 2
Iris hypopigmentation, Hypopigmentation of the skin, White hair, Abnormality of retinal pigmentat... ORPHA:79432
Neurooculocardiogenitourinary Syndrome
Peters anomaly, Epicanthus, Coloboma, Microphthalmia, Patent ductus arteriosus OMIM:618652
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Retinopathy, Corneal crystals, Retinal pigment epithelial mottling OMIM:219900
Spermatogenic Failure 6
Decreased acrosin in sperm head, Globozoospermia, Male infertility OMIM:102530
Frontofacionasal Dysplasia
Cataract, Microcornea, Aplasia/Hypoplasia of the eyebrow, Limbal dermoid, Absent inner eyelashes,... ORPHA:1791
Megalocornea
Cataract, Deep anterior chamber, Megalocornea, Lens subluxation, Astigmatism, Iridodonesis, Retin... OMIM:309300
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14
Abnormal lower motor neuron morphology OMIM:607641
Retinitis Pigmentosa 74
Posterior polar cataract, Optic disc pallor, Pigmentary retinopathy, Rod-cone dystrophy OMIM:616562
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Microphthalmia, Cataract, Retinal detachment, Optic nerve hypoplasia OMIM:615181
Joubert Syndrome 40
Almond-shaped palpebral fissure, Optic nerve hypoplasia OMIM:619582
Bardet-Biedl Syndrome 3
Pigmentary retinopathy, Rod-cone dystrophy OMIM:600151
Joubert Syndrome 28
Optic disc pallor, Pigmentary retinopathy OMIM:617121
Ectopia Lentis Et Pupillae
Cataract, Ectopia lentis, Ectopia pupillae, Retinal detachment, Iris transillumination defect, Pe... OMIM:225200
Leg, Absence Deformity Of, With Congenital Cataract
Progressive cataract, Developmental cataract, Optic nerve dysplasia OMIM:246000
Nance-Horan Syndrome
Cataract, Microcornea, Retinal detachment, Microphthalmia ORPHA:627
Ciliary Dyskinesia, Primary, 50
Reduced progressive sperm motility, Short sperm flagella, Reduced sperm motility, Male infertilit... OMIM:620356
Nasopalpebral Lipoma-Coloboma Syndrome
Cataract, Sparse eyebrow, Hamartoma of the orbital region, Bilateral microphthalmos, Lacrimal pun... ORPHA:2399
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Cataract, Retinal nonattachment, Microcornea, Posterior synechiae of the anterior chamber, Persis... OMIM:221900
Ring Chromosome 14 Syndrome
Pigmentary retinopathy OMIM:616606
Retinal Dystrophy And Iris Coloboma With Or Without Cataract
Iris coloboma, Retinal atrophy, Posterior synechiae of the anterior chamber, Developmental cataract OMIM:616722
Exudative Vitreoretinopathy 6
Exudative vitreoretinopathy, Retinal exudate, Cataract, Nuclear cataract, Posterior vitreous deta... OMIM:616468
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Cataract, Coloboma, Retinal detachment, Corneal opacity, Microphthalmia OMIM:613153
Congenital Muscular Dystrophy With Cerebellar Involvement
Cataract, Optic atrophy, Abnormality iris morphology, Megalocornea, Coloboma, Retinal detachment,... ORPHA:370959
Oculogastrointestinal Neurodevelopmental Syndrome
Unilateral microphthalmos, Coloboma, Bilateral microphthalmos, Unilateral ptosis OMIM:619318
Exudative Vitreoretinopathy 1
Retinal exudate, Exudative vitreoretinopathy, Ectopic fovea, Posterior vitreous detachment, Vitre... OMIM:133780
Peroxisomal Acyl-Coa Oxidase Deficiency
Optic atrophy, Pigmentary retinopathy, Rod-cone dystrophy OMIM:264470
Congenital Disorder Of Glycosylation, Type Iq
Cataract, Optic atrophy, Coloboma, Abnormality of skin pigmentation, Microphthalmia OMIM:612379
Azoospermia, Obstructive, With Nephrolithiasis
Obstructive azoospermia, Male infertility, Spermatocele OMIM:301060
Cone-Rod Dystrophy, X-Linked, 3
Abnormality of macular pigmentation, Astigmatism, Cone/cone-rod dystrophy, Retinal detachment, Op... OMIM:300476
Microphthalmia With Brain And Digit Anomalies
Cataract, Microcornea, Chorioretinal coloboma, Anophthalmia, Microphthalmia, Sclerocornea, Iris c... ORPHA:139471
Microphthalmia, Isolated, With Corectopia
Microphthalmia OMIM:156900
Bardet-Biedl Syndrome 9
Cataract, Attenuation of retinal blood vessels, Astigmatism, Retinal degeneration, Bone spicule p... OMIM:615986
Craniotelencephalic Dysplasia
Optic atrophy, Septo-optic dysplasia, Microphthalmia ORPHA:1528
Kniest Dysplasia
Cataract, Lens luxation, Vitreoretinopathy, Retinal detachment, Rhegmatogenous retinal detachment... ORPHA:485
Exudative Vitreoretinopathy 4
Retinal exudate, Exudative vitreoretinopathy, Posterior vitreous detachment, Tractional retinal d... OMIM:601813
Combined Hamartoma Of The Retina And Retinal Pigment Epithelium
Abnormal optic disc morphology, Vitreoretinopathy, Retinal vascular tortuosity, Nasolacrimal duct... ORPHA:440727
Intellectual Developmental Disorder, Autosomal Recessive 67
Coloboma OMIM:618295
Craniotelencephalic Dysplasia
Optic nerve hypoplasia, Microphthalmia OMIM:218670
Spermatogenic Failure 9
Globozoospermia, Male infertility OMIM:613958
Spermatogenic Failure 67
Globozoospermia, Male infertility OMIM:619803
Spermatogenic Failure 68
Globozoospermia, Male infertility OMIM:619805
Spermatogenic Failure 69
Globozoospermia, Male infertility OMIM:619826
Spermatogenic Failure 66
Globozoospermia, Male infertility OMIM:619799
Oculopalatocerebral Syndrome
Leukocoria, Remnants of the hyaloid vascular system, Microphthalmia OMIM:257910
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Cataract, Microcornea, Optic atrophy, Myopic astigmatism, Downslanted palpebral fissures, Astigma... OMIM:152950
Narp Syndrome
Retinal arteriolar tortuosity, Optic disc pallor, Retinal pigment epithelial mottling, Rod-cone d... ORPHA:644
Zika Virus Disease
Retinal pigment epithelial mottling, Optic disc hypoplasia, Chorioretinal atrophy, Abnormal optic... ORPHA:448237
Cone-Rod Dystrophy 2
Chorioretinal atrophy, Macular hyperpigmentation, Cone/cone-rod dystrophy, Bone spicule pigmentat... OMIM:120970
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Abnormality of retinal pigmentation ORPHA:2521
Srd5A3-Cdg
Cataract, Optic atrophy, Optic disc hypoplasia, Spotty hyperpigmentation, Coloboma, Rod-cone dyst... ORPHA:324737
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Developmental cataract, Retinal dystrophy, Microphthalmia OMIM:613155
Neonatal Adrenoleukodystrophy
Optic atrophy, Abnormality of retinal pigmentation, Cataract ORPHA:44
Birt-Hogg-Dubé Syndrome
Abnormality of retinal pigmentation ORPHA:122
Coloboma Of Macula
Macular coloboma OMIM:120300
Waardenburg-Shah Syndrome
Abnormal macular morphology, Premature graying of hair, White forelock, Abnormality of retinal pi... ORPHA:897
Waardenburg Syndrome, Type 4C
Lacrimal gland hypoplasia, Cryptorchidism, Heterochromia iridis, Aganglionic megacolon, White eye... OMIM:613266
Chromosome Xp11.3 Deletion Syndrome
Optic atrophy, Pigmentary retinopathy, Cataract, Posterior subcapsular cataract, Attenuation of r... OMIM:300578
Amyotrophic Lateral Sclerosis 22 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:616208
Weill-Marchesani Syndrome 3
Microspherophakia, Shallow anterior chamber, Ectopia lentis OMIM:614819
Intellectual Developmental Disorder, Autosomal Dominant 70
Cataract, Short palpebral fissure, Highly arched eyebrow, Downslanted palpebral fissures, Upslant... OMIM:620157
Myopia 3, Autosomal Dominant
Retinal detachment OMIM:603221
Myopia 25, Autosomal Dominant
Retinal detachment OMIM:617238
Myopia 2, Autosomal Dominant
Retinal detachment OMIM:160700
Myopia 5, Autosomal Dominant
Retinal detachment OMIM:608474
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma
Microspherophakia, Ectopia lentis, Megalocornea, Iridodonesis, Buphthalmos, Deep anterior chamber OMIM:251750
Canavan Disease
Optic atrophy, Abnormality of retinal pigmentation ORPHA:141
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Highly arched eyebrow, Elevated circulating luteinizing hormone level, Supernumerary lacrimal pun... ORPHA:572333
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Cataract, Optic disc pallor, Cryptorchidism, Microphthalmia OMIM:613730
Temtamy Syndrome
Highly arched eyebrow, Ectopia lentis, Chorioretinal coloboma, Downslanted palpebral fissures, Mi... OMIM:218340
Spermatogenic Failure 15
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:616950
Microtia-Eye Coloboma-Imperforation Of The Nasolacrimal Duct Syndrome
Iris coloboma, Lacrimal duct atresia ORPHA:139450
Choroidal Atrophy-Alopecia Syndrome
Patchy atrophy of the retinal pigment epithelium, Abnormality of retinal pigmentation ORPHA:1433
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Cataract, Abnormally large globe, Retinal degeneration, Coloboma, Microphthalmia OMIM:615249
Proboscis Lateralis
Chorioretinal coloboma, Unilateral narrow palpebral fissure, Anophthalmia, Abnormal nasolacrimal ... ORPHA:141099
Premature Ovarian Failure 20
Female infertility, Secondary amenorrhea OMIM:619938
Bresek Syndrome
Aganglionic megacolon, Optic nerve hypoplasia, Iris coloboma, Microphthalmia ORPHA:85284
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Cataract, Microcornea, Ectopia pupillae, Cryptophthalmos, Long eyelashes, Anophthalmia, Epicanthu... OMIM:615877
Curry-Jones Syndrome
Iris coloboma, Hypopigmented skin patches, Optic disc coloboma, Microphthalmia ORPHA:1553
Amyotrophic Lateral Sclerosis, Susceptibility To, 25
Amyotrophic lateral sclerosis OMIM:617921
Congenital Varicella Syndrome
Cataract, Microphthalmia ORPHA:291
Frontonasal Dysplasia 1
Cataract, Epicanthus, Ptosis, Coloboma, Microphthalmia OMIM:136760
Sarcoidosis, Susceptibility To, 1
Enlarged lacrimal glands, Abnormal salivary gland morphology, Optic neuropathy, Chorioretinitis OMIM:181000
Acute Zonal Occult Outer Retinopathy
Abnormal fundus fluorescein angiography, Pigmentary retinopathy, Vitreous inflammatory cells, Mar... ORPHA:284454
Cardiofaciocutaneous Syndrome 4
Cataract, Multiple lentigines, Telecanthus, Sparse eyelashes, Epicanthus, Ptosis, Absent eyebrow,... OMIM:615280
Posterior Column Ataxia With Retinitis Pigmentosa
Optic atrophy, Pigmentary retinopathy, Cataract, Attenuation of retinal blood vessels, Bone spicu... OMIM:609033
Coloboma Of Optic Nerve
Retinal detachment, Optic disc coloboma OMIM:120430
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Cataract, Optic atrophy, Upslanted palpebral fissure, Cryptorchidism, Peripheral axonal neuropath... ORPHA:496790
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Cataract, Abnormality of retinal pigmentation ORPHA:3085
Arthrogryposis, Distal, Type 5
Keratoconus, Astigmatism, Abnormality of retinal pigmentation, Retinal fold, Keratoglobus OMIM:108145
Abruzzo-Erickson Syndrome
Microcornea, Chorioretinal coloboma, Epicanthus, Coloboma, Iris coloboma ORPHA:921
Septooptic Dysplasia
Decreased response to growth hormone stimulation test, Optic disc hypoplasia, Anterior pituitary ... OMIM:182230
Igg4-Related Submandibular Gland Disease
Abnormal salivary gland morphology, Abnormal pancreas morphology, Abnormality of the submandibula... ORPHA:449432
Nail-Patella Syndrome
Keratoconus, Microcornea, Cataract, Ptosis, Lester's sign, Antecubital pterygium, Microphakia OMIM:161200
Amyotrophic Lateral Sclerosis 23
Degeneration of anterior horn cells, Amyotrophic lateral sclerosis OMIM:617839
Retinitis Pigmentosa
Optic atrophy, Keratoconus, Posterior subcapsular cataract, Attenuation of retinal blood vessels,... ORPHA:791
Osteoporosis-Pseudoglioma Syndrome
Exudative vitreoretinopathy, Abnormal vitreous humor morphology, Retinal detachment, Exudative re... ORPHA:2788
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome
Aplasia/Hypoplasia of the pancreas, Optic nerve hypoplasia ORPHA:65288
Nabais Sa-De Vries Syndrome, Type 1
Highly arched eyebrow, Downslanted palpebral fissures, Long eyelashes, Telecanthus, Epicanthus, N... OMIM:618828
Aplasia Of Lacrimal And Salivary Glands
Lacrimal gland aplasia, Absent lacrimal punctum, Lacrimal gland hypoplasia OMIM:180920
Macrophthalmia, Colobomatous, With Microcornea
Microcornea, Increased axial length of the globe, Optic disc coloboma, Chorioretinal coloboma, Ma... OMIM:602499
Spermatogenic Failure 2