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Gene: Vsx2 MGI:88401

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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

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

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, Isolated, With Coloboma 3
Microphthalmia, Cataract, Iris coloboma 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, Chorioretinal atrophy, Choriocapillaris atrophy OMIM:215500
Retinal Dysplasia, Primary
Retinal dysplasia, Falciform retinal fold OMIM:312550
Nanophthalmos
Microphthalmia, Abnormality of retinal pigmentation, Abnormal choroid morphology ORPHA:35612
Night Blindness, Congenital Stationary, Type 1D
Congenital stationary night blindness, Pigmentary retinopathy, Macular atrophy, Attenuation of re... OMIM:613830
Congenital Primary Aphakia
Aplasia/Hypoplasia affecting the anterior segment of the eye, Sclerocornea, Retinal dysplasia, Mi... ORPHA:83461
Retinitis Pigmentosa 36
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... OMIM:610599
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia, Optic atrophy, Abnormality of retinal pigmentation ORPHA:1574
Leber Congenital Amaurosis 13
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal dystrophy, Attenuation of ret... OMIM:612712
Grouped Pigmentation Of The Retina
Abnormality of retinal pigmentation OMIM:233800
Hyperreflexia
Abnormality of retinal pigmentation OMIM:145290
X-Linked Retinal Dysplasia
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia ORPHA:1852
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia, Retinal degeneration OMIM:251700
Persistent Placoid Maculopathy
Hypoplasia of the fovea, Retinal pigment epithelial mottling, Choroidal neovascularization, Abnor... ORPHA:97341
Microphthalmia, Isolated, With Coloboma 4
Microphthalmia, Coloboma, Orbital cyst, Microcornea OMIM:251505
Blindness-Scoliosis-Arachnodactyly Syndrome
Retinal detachment, Abnormality of retinal pigmentation, Cataract, Lens subluxation, Microphakia ORPHA:171844
Cleft Lip-Retinopathy Syndrome
Abnormality of retinal pigmentation, Retinopathy ORPHA:1995
Microphthalmia, Isolated, With Coloboma 10
Anophthalmia, Microcoria, Optic pit, Chorioretinal coloboma, Microphthalmia, Iris coloboma OMIM:616428
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Premature Ovarian Failure 12
Macular dystrophy, Microphthalmia OMIM:616947
Anterior Segment Dysgenesis 8
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the... OMIM:617319
Macular Dystrophy, Retinal, 2
Macular dystrophy, Perifoveal ring of hyperautofluorescence, Granular macular appearance, Retinal... OMIM:608051
Coloboma, Ocular, Autosomal Dominant
Optic nerve aplasia, Remnants of the hyaloid vascular system, Corneal opacity, Morning glory anom... OMIM:120200
Spermatogenic Failure 73
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619878
Spermatogenic Failure 59
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619645
Spermatogenic Failure 60
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619646
Spermatogenic Failure 74
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619937
Microphthalmia, Isolated, With Coloboma 7
Microphthalmia, Iris coloboma, Inferior chorioretinal coloboma OMIM:614497
Retinopathy, Pericentral Pigmentary, Dominant
Bone spicule pigmentation of the retina, Retinal atrophy, Retinal dystrophy, Pigmentary retinopat... OMIM:180210
Microphthalmia, Isolated, With Coloboma 6
Hypoplasia of the fovea, Coloboma, Bilateral microphthalmos, Optic disc hypoplasia OMIM:613703
Bardet-Biedl Syndrome 13
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels OMIM:615990
Choroideremia
Bone spicule pigmentation of the retina, Chorioretinal degeneration, Retinal pigment epithelial m... OMIM:303100
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia, Chorioretinal dysplasia OMIM:616335
Spermatogenic Failure 57
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi... OMIM:619528
Spermatogenic Failure 50
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size OMIM:619145
Retinitis Pigmentosa 40
Cataract, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blo... OMIM:613801
Retinitis Pigmentosa 39
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels OMIM:613809
Night Blindness, Congenital Stationary, Autosomal Dominant 1
Congenital stationary night blindness, Bone spicule pigmentation of the retina OMIM:610445
Sorsby Pseudoinflammatory Fundus Dystrophy
Retinal atrophy, Choroidal neovascularization, Retinal pigment epithelial atrophy, Macular dystro... ORPHA:59181
Optic Nerve Hypoplasia, Bilateral
Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Morning glo... OMIM:165550
Nephronophthisis
Abnormality of retinal pigmentation ORPHA:655
Homocarnosinosis
Abnormality of skin pigmentation, Abnormality of retinal pigmentation OMIM:236130
Oocyte/Zygote/Embryo Maturation Arrest 9
Oocyte arrest at metaphase I, Female infertility OMIM:619011
Central Areolar Choroidal Dystrophy
Macular atrophy, Foveal photoreceptor outer segment loss on macular OCT, Drusen, Retinal pigment ... ORPHA:75377
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Retinal detachment, Abnormality of retinal pigmentation, Optic disc pallor, Retinal dystrophy, Ch... OMIM:251270
Spermatogenic Failure 32
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:618115
Spermatogenic Failure 71
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:619831
Blue Cone Monochromatism
Abnormality of retinal pigmentation, Corneal dystrophy ORPHA:16
Liberfarb Syndrome
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal degeneration, Retinal pigment... OMIM:618889
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
Spermatogenic Failure 62
Male infertility, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Male infertility, Non-obstructive azoospermia OMIM:619672
Retinitis Pigmentosa 30
Bone spicule pigmentation of the retina, Optic atrophy, Chorioretinal atrophy, Rod-cone dystrophy... OMIM:607921
Retinitis Pigmentosa 84
Bone spicule pigmentation of the retina, Cataract, Macular atrophy, Macular coloboma, Rod-cone dy... OMIM:618220
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Spermatogenic Failure 4
Male infertility, Azoospermia OMIM:270960
Spermatogenic Failure, Y-Linked, 2
Male infertility, Azoospermia OMIM:415000
Spermatogenic Failure 23
Male infertility, Azoospermia OMIM:617707
Oocyte/Zygote/Embryo Maturation Arrest 14
Oocyte maturation arrest, Female infertility OMIM:620276
Oocyte/Zygote/Embryo Maturation Arrest 5
Lack of oocyte pronucleus formation, Female infertility OMIM:617996
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome
Abnormality of retinal pigmentation ORPHA:2579
Retinitis Pigmentosa 33
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... OMIM:610359
Retinitis Pigmentosa 9
Bone spicule pigmentation of the retina, Cataract, Macular atrophy, Macular edema, Rod-cone dystr... OMIM:180104
Familial Drusen
Abnormality of retinal pigmentation, Macular drusen, Peripapillary chorioretinal atrophy, Choroid... ORPHA:75376
Retinitis Pigmentosa 57
Optic disc pallor, Bone spicule pigmentation of the retina, Absent foveal reflex, Rod-cone dystro... OMIM:613582
Microphthalmia, Isolated 5
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, C... OMIM:611040
Retinitis Pigmentosa 4
Bone spicule pigmentation of the retina, Retinal atrophy, Cataract, Pigmentary retinopathy, Rod-c... OMIM:613731
Reticular Dystrophy Of Retinal Pigment Epithelium
Abnormality of retinal pigmentation, Pigmentary retinopathy OMIM:179840
Female Infertility Due To Oocyte Meiotic Arrest
Female infertility, Polycystic ovaries, Abnormal spermatogenesis, Oocyte arrest at metaphase I, A... ORPHA:488191
Retinitis Pigmentosa 47
Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal atrophy OMIM:613758
Stargardt Disease 1
Macular degeneration, Retinitis pigmentosa inversa, Bull's eye maculopathy OMIM:248200
Microphthalmia, Isolated 2
Microphthalmia OMIM:610093
Microphthalmia, Isolated 4
Microphthalmia, Absent testis, Coloboma OMIM:613094
Cone-Rod Dystrophy 5
Cone/cone-rod dystrophy, Retinal pigment epithelial mottling, Macular degeneration OMIM:600977
Retinitis Pigmentosa 32
Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Photoreceptor... OMIM:609913
Retinitis Pigmentosa 81
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, A... OMIM:617871
Cone-Rod Dystrophy 16
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Be... OMIM:614500
Foveal Hypoplasia 2
Hypoplasia of the fovea, Astigmatism, Axenfeld anomaly, Foveal hyperpigmentation, Optic nerve mis... OMIM:609218
Oocyte/Zygote/Embryo Maturation Arrest 8
Female infertility OMIM:619009
Oocyte/Zygote/Embryo Maturation Arrest 13
Female infertility OMIM:620154
Retinitis Pigmentosa 96
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal thinning OMIM:620228
Retinopathy, Pericentral Pigmentary, Autosomal Recessive
Pigmentary retinopathy, Astigmatism OMIM:268060
Retinitis Pigmentosa 13
Bone spicule pigmentation of the retina, Subcapsular cataract, Optic disc drusen, Perifoveal ring... OMIM:600059
Oocyte/Zygote/Embryo Maturation Arrest 12
Female infertility OMIM:619697
Spermatogenic Failure 30
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest OMIM:618110
Ataxia-Tapetoretinal Degeneration Syndrome
Pigmentary retinopathy, Rod-cone dystrophy ORPHA:1178
Macular Degeneration, Age-Related, 13
Drusen, Macular degeneration, Choroidal neovascularization, Macular scar OMIM:615439
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Macular atrophy, Shallow anterior chamber, Cystoid macular degeneration, Microphthalmia, Retinal ... OMIM:267760
Retinitis Pigmentosa 54
Fundus atrophy, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retin... OMIM:613428
Premature Ovarian Failure 19
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility OMIM:619245
Stargardt Disease
Retinal pigment epithelial atrophy, Retinal thinning, Abnormal foveal morphology, Retinal pigment... ORPHA:827
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Retinitis Pigmentosa 95
Optic disc pallor, Bone spicule pigmentation of the retina, Perifoveal ring of hyperautofluoresce... OMIM:620102
Progressive Cone Dystrophy
Abnormality of retinal pigmentation ORPHA:1871
Retinitis Pigmentosa 62
Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Rod-cone dyst... OMIM:614181
Spermatogenic Failure 48
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia OMIM:619108
Spermatogenic Failure 35
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618341
Retinitis Pigmentosa 68
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Retinal atrophy OMIM:615725
Microphthalmia, Isolated, With Coloboma 5
Anophthalmia, Bilateral microphthalmos, Chorioretinal coloboma, Microphthalmia, Iris coloboma OMIM:611638
Progressive Bifocal Chorioretinal Atrophy
Pigmentary retinopathy, Chorioretinal dystrophy, Macular atrophy ORPHA:75373
Spermatogenic Failure 20
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:617593
Coats Disease
Retinal detachment, Cataract, Abnormal retinal vascular morphology, Aplasia/Hypoplasia of the iri... ORPHA:190
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Retinitis Pigmentosa 61
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels OMIM:614180
Microphthalmia, Isolated 8
Retinal detachment, Anophthalmia, Entropion, Optic nerve hypoplasia, Hypoplastic optic chiasm, Re... OMIM:615113
Oculoauricular Syndrome
Sclerocornea, Microcornea, Iris cyst, Chorioretinal coloboma, Ocular anterior segment dysgenesis,... OMIM:612109
Retinitis Pigmentosa 48
Macular degeneration, Rod-cone dystrophy OMIM:613827
Morning Glory Disc Anomaly
Retinal detachment, Optic disc coloboma, Abnormality of retinal pigmentation, Cataract ORPHA:35737
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome
Abnormality of retinal pigmentation, Optic atrophy ORPHA:2246
Retinitis Pigmentosa 11
Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Macular edema, Macul... OMIM:600138
Nanophthalmos 4
Microphthalmia, Optic disc drusen OMIM:615972
Retinitis Pigmentosa 76
Bone spicule pigmentation of the retina, Retinal thinning, Hyperautofluorescent macular lesion, P... OMIM:617123
Leber Congenital Amaurosis With Early-Onset Deafness
Retinal pigment epithelial mottling, Peripapillary atrophy, Retinal degeneration OMIM:617879
Pigmented Paravenous Chorioretinal Atrophy
Bone spicule pigmentation of the retina, Paravenous chorioretinal atrophy, Vitreoretinopathy OMIM:172870
Retinitis Pigmentosa 87 With Choroidal Involvement
Pigmentary retinopathy, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Nummular ... OMIM:618697
Partial Chromosome Y Deletion
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... ORPHA:1646
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Pigmentary retinopathy OMIM:609016
Leber Congenital Amaurosis 8
Keratoconus, Cataract, Macular coloboma, Chorioretinal atrophy, Nummular pigmentation of the fund... OMIM:613835
Spermatogenic Failure 29
Male infertility, Non-obstructive azoospermia, Immotile sperm OMIM:618091
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Chorioretinal coloboma, Microphthal... ORPHA:1473
Bothnia Retinal Dystrophy
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinitis, Abnormal ... ORPHA:85128
Microphthalmia, Isolated 6
Microcornea, Microphthalmia, Retinal fold OMIM:613517
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Remnants of the hyaloid vascular system, Retinal dystrophy, Microcornea, Posterior lenticonus, Ch... ORPHA:231736
Spermatogenic Failure 72
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:619867
Spermatogenic Failure 34
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:618153
Retinitis Pigmentosa 86
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... OMIM:618613
Retinitis Pigmentosa 90
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Hyperautofluorescent... OMIM:619007
Retinitis Pigmentosa 28
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:606068
Spermatogenic Failure 22
Male infertility, Non-obstructive azoospermia, Cryptozoospermia OMIM:617706
Retinal Degeneration And Epilepsy
Retinal degeneration OMIM:267740
Spermatogenic Failure 33
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618152
Spermatogenic Failure 37
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618429
Spermatogenic Failure 18
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:617576
Spermatogenic Failure 46
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:619095
Spermatogenic Failure 27
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:617965
Microphthalmia, Isolated, With Coloboma 3
Microphthalmia, Cataract, Iris coloboma OMIM:610092
Retinitis Pigmentosa 17
Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:600852
Spermatogenic Failure, X-Linked, 5
Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A... OMIM:301099
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Retinal dysplasia OMIM:615041
Anterior Segment Dysgenesis 2
Cataract, Corneal opacity, Sclerocornea, Microcornea, Coloboma, Posterior synechiae of the anteri... OMIM:610256
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Developmental cataract, Coloboma, Retinal dysplasia, Microphthalmia, Ocular anterior segment dysg... ORPHA:324416
Spermatogenic Failure 43
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618751
Spermatogenic Failure 19
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:617592
Spermatogenic Failure 82
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro... OMIM:620353
Spermatogenic Failure 49
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619144
Spermatogenic Failure 45
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619094
Retinitis Pigmentosa 7
Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal atrophy, Attenuation of retinal blood v... OMIM:608133
Oocyte/Zygote/Embryo Maturation Arrest 10
Female infertility OMIM:619176
Spermatogenic Failure 25
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia OMIM:617960
Central Retinal Vein Occlusion
Papilledema, Epiretinal membrane, Abnormal anterior eye segment morphology, Intraretinal hemorrha... ORPHA:411527
Isochromosomy Yp
Male infertility, Azoospermia, Ambiguous genitalia, Decreased testicular size ORPHA:98797
Retinitis Pigmentosa 80
Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retinal blood vessels OMIM:617781
Hydatidiform Mole, Recurrent, 3
Female infertility OMIM:618431
Hydatidiform Mole, Recurrent, 4
Female infertility OMIM:618432
Spermatogenic Failure 17
Male infertility OMIM:617214
Exudative Vitreoretinopathy 2, X-Linked
Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Peripheral vitreous ... OMIM:305390
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Microphthalmia, Cataract, Iris coloboma, Chorioretinal coloboma OMIM:120433
Bietti Crystalline Dystrophy
Retinal pigment epithelial atrophy, Retinal thinning, Chorioretinal degeneration, Retinal pigment... ORPHA:41751
Spermatogenic Failure 83
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... OMIM:620354
Leber Congenital Amaurosis 2
Keratoconus, Optic disc pallor, Cataract, Fundus atrophy, Absent foveal reflex, Pigmentary retino... OMIM:204100
Cone Rod Dystrophy
Abnormality of retinal pigmentation ORPHA:1872
Retinitis Pigmentosa 88
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular... OMIM:618826
Cone-Rod Dystrophy 24
Cone/cone-rod dystrophy, Macular drusen, Macular atrophy, Pigmentary retinopathy, Macular degener... OMIM:620342
Macular Dystrophy, Retinal, 1, North Carolina Type
Drusen, Macular dystrophy, Abnormality of macular pigmentation, Peripheral retinal atrophy OMIM:136550
Retinitis Pigmentosa 27
Bone spicule pigmentation of the retina, Peripapillary chorioretinal atrophy, Macular atrophy, Ch... OMIM:613750
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinal dystrophy, C... OMIM:616108
Iris Pigment Layer, Cleavage Of
Peripheral retinal detachment, Cataract OMIM:147610
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Microphthalmia, Retinal dysplasia OMIM:614830
Bornholm Eye Disease
Abnormality of retinal pigmentation, Astigmatism, Optic nerve hypoplasia OMIM:300843
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
Macular Degeneration, Early-Onset
Macular degeneration, Choroidal neovascularization OMIM:616118
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
Achromatopsia
Hypoplasia of the fovea, Retinal pigment epithelial atrophy, Retinal pigment epithelial mottling,... ORPHA:49382
Exudative Vitreoretinopathy 7
Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold, Retinal degeneration OMIM:617572
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Retinitis Pigmentosa 69
Pigmentary retinopathy, Perifoveal hypoautofluorescence, Rod-cone dystrophy OMIM:615780
Ceroid Lipofuscinosis, Neuronal, 7
Retinopathy, Pigmentary retinopathy, Optic atrophy OMIM:610951
Retinitis Pigmentosa 46
Optic disc pallor, Posterior subcapsular cataract, Pigmentary retinopathy, Rod-cone dystrophy, At... OMIM:612572
Spermatogenic Failure 70
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia OMIM:619828
Spermatogenic Failure 65
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619712
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Spermatogenic Failure, X-Linked, 3
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... OMIM:301059
Cataract 9, Multiple Types
Progressive cataract, Cataract, Developmental cataract, Microcornea, Microphthalmia, Iris coloboma OMIM:604219
Retinitis Pigmentosa 77
Bone spicule pigmentation of the retina, Retinal atrophy, Posterior subcapsular cataract, Rod-con... OMIM:617304
Microphthalmia, Syndromic 13
Microcornea, Chorioretinal coloboma, Microphthalmia, Iris coloboma, Ptosis OMIM:300915
Spermatogenic Failure 56
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619515
Aniridia-Intellectual Disability Syndrome
Aniridia, Cataract, Optic nerve hypoplasia, Ectopia lentis ORPHA:1068
Premature Ovarian Failure 2B
Premature ovarian insufficiency, Primary amenorrhea, Female infertility OMIM:300604
Spermatogenic Failure 80
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... OMIM:620222
Spermatogenic Failure 40
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... OMIM:618664
Spermatogenic Failure 76
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... OMIM:620084
Stargardt Disease 4
Macular degeneration, Retinal flecks OMIM:603786
Neuropathy, Ataxia, And Retinitis Pigmentosa
Retinal pigment epithelial mottling, Rod-cone dystrophy, Retinopathy OMIM:551500
Usher Syndrome, Type Iv
Hyperautofluorescent macular lesion, Bone spicule pigmentation of the retina, Retinal atrophy, Re... OMIM:618144
Spermatogenic Failure 47
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella OMIM:619102
Retinitis Pigmentosa 19
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... OMIM:601718
Spermatogenic Failure 78
Male infertility, Microcephalic sperm head, Tapered sperm head OMIM:620170
Exudative Vitreoretinopathy 3
Retinal detachment, Retinal exudate, Exudative vitreoretinopathy, Retinal hole, Retinal fold OMIM:605750
Spermatogenic Failure 58
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... OMIM:619585
Retinitis Pigmentosa 6
Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal degeneration OMIM:312612
Vitreoretinochoroidopathy
Retinal detachment, Retinal arteriolar occlusion, Pulverulent cataract, Developmental cataract, M... OMIM:193220
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features
Hypoplasia of the fovea, Epicanthus, Optic atrophy, Upslanted palpebral fissure, Iris cyst, Ptosis OMIM:620086
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Coloboma, Peters anomaly, Microphthalmia, Ocular anterior segment dysgenesis, Iris coloboma OMIM:610023
Spermatogenic Failure 79
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia OMIM:620196
Spermatogenic Failure 11
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:615081
Spermatogenic Failure 10
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:614822
Dihydropyrimidine Dehydrogenase Deficiency
Microphthalmia, Coloboma, Optic atrophy OMIM:274270
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Retinal detachment, Cataract, Retinal dystrophy, Macular atrophy, Corneal scarring, Buphthalmos, ... OMIM:212550
Cataract 50 With Or Without Glaucoma
Retinal detachment, Cataract, Persistent pupillary membrane OMIM:620253
Spermatogenic Failure 42
Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe... OMIM:618745
Spermatogenic Failure 1
Male infertility, Cryptozoospermia, Oligozoospermia OMIM:258150
Spermatogenic Failure 54
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... OMIM:619379
Spermatogenic Failure 63
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia OMIM:619689
Spermatogenic Failure 39
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... OMIM:618643
Late-Onset Retinal Degeneration
Sub-RPE deposits, Choroidal neovascularization, Chorioretinal degeneration, Retinopathy, Retinal ... OMIM:605670
Isochromosomy Yq
Male infertility, Decreased testicular size, Gonadal tissue inappropriate for external genitalia ... ORPHA:98798
Spermatogenic Failure 7
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia OMIM:612997
Facial Clefting, Oblique, 1
Microphthalmia, Coloboma OMIM:600251
Retinitis Pigmentosa 56
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P... OMIM:613581
Cataract 21, Multiple Types
Retinal detachment, Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent catarac... OMIM:610202
Ring Chromosome Y Syndrome
Male infertility, Bifid scrotum, Ambiguous genitalia, Streak ovary, Unilateral cryptorchidism, Hy... ORPHA:261529
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Cone-Rod Dystrophy, X-Linked, 1
Retinal pigment epithelial mottling, Retinal pigment epithelial atrophy, Hypoautofluorescent macu... OMIM:304020
Microphthalmia, Syndromic 3
Optic nerve aplasia, Anophthalmia, Cataract, Optic nerve hypoplasia, Sclerocornea, Patent ductus ... OMIM:206900
Retinitis Pigmentosa 79
Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retin... OMIM:617460
Hyperprolactinemia
Menorrhagia, Oligomenorrhea, Female infertility OMIM:615555
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Microphthalmia, Rod-cone dystrophy, Retinal coloboma, Cataract OMIM:601794
Spermatogenic Failure 5
Male infertility, Multiflagellar spermatozoa, Macrozoospermia OMIM:243060
Exudative Vitreoretinopathy 5
Exudative vitreoretinopathy, Shallow anterior chamber, Falciform retinal fold, Retinal exudate, T... OMIM:613310
Retinitis Pigmentosa 83
Bone spicule pigmentation of the retina, Vitreous floaters, Posterior subcapsular cataract, Aster... OMIM:618173
Spermatogenic Failure 41
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella OMIM:618670
Retinal Cone Dystrophy 4
Cone/cone-rod dystrophy, Retinal pigment epithelial mottling OMIM:610478
Male Infertility Due To Acephalic Spermatozoa
Male infertility, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Re... ORPHA:529970
Retinitis Pigmentosa 2
Cataract, Bull's eye maculopathy, Chorioretinal degeneration, Fundus atrophy, Pigmentary retinopa... OMIM:312600
Familial Exudative Vitreoretinopathy
Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti... ORPHA:891
Retinitis Pigmentosa 10
Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Geographic at... OMIM:180105
Leber Congenital Amaurosis 19
Optic disc pallor, Retinal degeneration, Attenuation of retinal blood vessels OMIM:618513
Macular Degeneration, Atrophic, X-Linked
Macular degeneration OMIM:300834
Choroideremia
Abnormality of retinal pigmentation ORPHA:180
Biemond Syndrome Type 2
Hypospadias, Hypogonadotropic hypogonadism, Coloboma, Hypogonadism, Microphthalmia ORPHA:141333
Spermatogenic Failure 31
Male infertility, Acephalic spermatozoa OMIM:618112
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Spermatogenic Failure 26
Male infertility, Acephalic spermatozoa OMIM:617961
Spermatogenic Failure 21
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Spermatogenic Failure 16
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Spermatogenic Failure 44
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:619044
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Microphthalmia, Rod-cone dystrophy, Retinal coloboma, Cataract ORPHA:363741
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Male infertility, Abnormal sperm morphology, Immotile sperm OMIM:608653
Retinitis Pigmentosa 73
Macular crystals, Optic disc pallor, Bone spicule pigmentation of the retina, Retinal atrophy, Ge... OMIM:616544
Leber Congenital Amaurosis 9
Keratoconus, Optic disc pallor, Bone spicule pigmentation of the retina, Macular coloboma, Macula... OMIM:608553
Retinoschisis 1, X-Linked, Juvenile
Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Macula... OMIM:312700
Spermatogenic Failure, X-Linked, 6
Male infertility, Abnormality of male external genitalia, Coiled sperm flagella, Reduced sperm mo... OMIM:301101
Deafness-Infertility Syndrome
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... OMIM:611102
Oocyte/Zygote/Embryo Maturation Arrest 17
Female infertility, Amenorrhea OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20
Female infertility, Amenorrhea OMIM:620383
Hyperleucine-Isoleucinemia
Retinal degeneration OMIM:238340
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
Spermatogenic Failure 64
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... OMIM:619696
Autosomal Dominant Keratitis
Hypoplasia of the fovea, Cataract, Keratitis, Bilateral microphthalmos, Abnormal corneal limbus m... ORPHA:2334
Spondylo-Ocular Syndrome
Retinal detachment, Cataract, Aplasia/Hypoplasia of the lens, Microphthalmia, Iris hypopigmentation ORPHA:85194
Igg4-Related Ophthalmic Disease
Palpebral edema, Abnormal fifth cranial nerve morphology, Abnormal morphology of bony orbit of sk... ORPHA:449563
Retinitis Pigmentosa 43
Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Pigme... OMIM:613810
Vitreoretinal Degeneration, Snowflake Type
Retinal detachment, Cataract, Snowflake vitreoretinal degeneration, Optically empty vitreous, Ret... OMIM:193230
Leber Congenital Amaurosis
Keratoconus, Abnormality of retinal pigmentation, Abnormal optic disc morphology, Cataract ORPHA:65
Retinitis Pigmentosa 92
Pigmentary retinopathy OMIM:619614
Myopia, High, With Cataract And Vitreoretinal Degeneration
Retinal detachment, Cataract, Vitreous floaters, Lattice retinal degeneration, Lens subluxation, ... OMIM:614292
2Q24 Microdeletion Syndrome
Cataract, Abnormality iris morphology, Coloboma, Microphthalmia, Downslanted palpebral fissures ORPHA:1617
Blepharoptosis-Myopia-Ectopia Lentis Syndrome
Abnormality of retinal pigmentation, Iris coloboma, Ectopia lentis ORPHA:1259
Birdshot Chorioretinopathy
Retinal detachment, Optic disc pallor, Cataract, Abnormal chorioretinal morphology, Choroidal neo... ORPHA:179
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia, Retinal dysplasia OMIM:615771
Retinitis Pigmentosa 25
Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Chori... OMIM:602772
Multiple Mitochondrial Dysfunctions Syndrome 5
Pigmentary retinopathy OMIM:617613
Intellectual Developmental Disorder And Retinitis Pigmentosa
Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Macul... OMIM:618195
Leber Congenital Amaurosis 1
Keratoconus, Cataract, Fundus atrophy, Optic disc drusen, Pigmentary retinopathy, Attenuation of ... OMIM:204000
Anterior Segment Dysgenesis 5
Hypoplasia of the fovea, Rieger anomaly, Sclerocornea, Developmental cataract, Hypoplasia of the ... OMIM:604229
Oliver-Mcfarlane Syndrome
Pigmentary retinopathy, Central heterochromia, Retinal degeneration OMIM:275400
Cofs Syndrome
Microphthalmia, Optic atrophy, Abnormality of retinal pigmentation, Cataract ORPHA:1466
Congenital Stationary Night Blindness
Abnormality of retinal pigmentation, Retinal thinning, Congenital stationary night blindness with... ORPHA:215
Retinitis Pigmentosa 1
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... OMIM:180100
Senior-Loken Syndrome
Abnormality of retinal pigmentation, Cataract, Retinal dystrophy ORPHA:3156
Spinocerebellar Ataxia, Autosomal Recessive 29
Retinal pigment epithelial mottling, Optic disc pallor OMIM:619389
Hereditary Liability to Pressure Palsies (HNPP)
Abnormal motor neuron morphology DECIPHER:31
Stickler Syndrome Type 2
Retinal detachment, Cataract, Corneal opacity, Abnormal vitreous humor morphology, Retinopathy ORPHA:90654
Wagner Vitreoretinopathy
Retinal pigment epithelial atrophy, Cataract, Optically empty vitreous, Optic atrophy, Chorioreti... OMIM:143200
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction
Retinal pigment epithelial mottling, Central retinal vessel vascular tortuosity, Hyporeflective s... ORPHA:506353
Gombo Syndrome
Microphthalmia OMIM:233270
Oculocutaneous Albinism Type 4
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,... ORPHA:79435
Microphthalmia, Syndromic 5
Ectopic posterior pituitary, Anophthalmia, Retinal dystrophy, Optic nerve hypoplasia, Cataract, C... OMIM:610125
Retinitis Pigmentosa 41
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Pigmentary reti... OMIM:612095
Cataract 11, Multiple Types
Microphthalmia, Cataract, Developmental cataract OMIM:610623
Norrie Disease
Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Leukocoria, Hypoplasia of the iris,... OMIM:310600
Microphthalmia, Syndromic 16
Microphthalmia, Anophthalmia OMIM:611038
Chorioretinal Atrophy, Progressive Bifocal
Retinal detachment, Chorioretinal dystrophy, Chorioretinal atrophy OMIM:600790
Cone-Rod Dystrophy 3
Cone/cone-rod dystrophy, Optic disc pallor, Bull's eye maculopathy, Pigmentary retinopathy, Atten... OMIM:604116
Retinal Cone Dystrophy 1
Cone/cone-rod dystrophy, Bull's eye maculopathy, Retinal degeneration OMIM:180020
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Optic disc pallor, Cataract, Macular atrophy, Optic atrophy, Microcornea, Microphthalmia, Retinop... OMIM:616171
Spinal Muscular Atrophy, Segmental
Abnormal anterior horn cell morphology OMIM:183020
Myopia 28, Autosomal Recessive
Retinal detachment, Cataract OMIM:619781
Cat-Eye Syndrome
Microphthalmia, Downslanted palpebral fissures, Iris coloboma, Chorioretinal coloboma ORPHA:195
Nasopalpebral Lipoma-Coloboma Syndrome
Absent lacrimal punctum, Lipomas of eyelids, Telecanthus, Sparse eyebrow, Upper eyelid coloboma, ... OMIM:167730
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy
Pigmentary retinopathy OMIM:619090
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement
Abnormality of retinal pigmentation, Macular coloboma, Chorioretinal coloboma ORPHA:2196
Microphthalmia, Isolated, With Coloboma 9
Retinal detachment, Macular coloboma, Sclerocornea, Microcornea, Narrow palpebral fissure, Microp... OMIM:615145
Retinal Dystrophy And Obesity
Retinal detachment, Retinal pigment epithelial atrophy, Retinal dystrophy, Retinal dots, Peripapi... OMIM:616188
Retinitis Pigmentosa 12
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... OMIM:600105
Igg4-Related Dacryoadenitis And Sialadenitis
Palpebral edema, Enlarged lacrimal glands, Abnormality of the orbital region, Enlargement of paro... ORPHA:79078
Retinitis Pigmentosa 14
Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Retin... OMIM:600132
Tricho-Retino-Dento-Digital Syndrome
Abnormality of retinal pigmentation, Juvenile cataract ORPHA:1264
Microcephaly-Microcornea Syndrome, Seemanova Type
Microcornea, Microphthalmia, Cataract, Hypogonadism ORPHA:2528
Idiopathic Uveal Effusion Syndrome
Abnormal anterior eye segment morphology, Subretinal fluid, Exudative retinal detachment, Microph... ORPHA:209956
Asherman Syndrome
Metrorrhagia, Dysmenorrhea, Abnormality of the menstrual cycle, Decreased fertility in females, S... ORPHA:137686
Retinopathy Of Prematurity
Tractional retinal detachment, Retinal arteriolar tortuosity, Abnormal retinal vascular morpholog... ORPHA:90050
Enhanced S-Cone Syndrome
Cataract, Macular edema, Pigmentary retinopathy, Vitreoretinopathy, Retinoschisis OMIM:268100
Yemenite Deaf-Blind Hypopigmentation Syndrome
Patchy hypo- and hyperpigmentation, Microcornea, Numerous pigmented freckles, White forelock, Cho... OMIM:601706
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome
Abnormality of retinal pigmentation ORPHA:2743
Retinitis Pigmentosa 45
Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:613767
Retinitis Pigmentosa 58
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... OMIM:613617
Spermatogenic Failure 81
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia OMIM:620277
Microcephaly-Cardiomyopathy Syndrome
Abnormality of retinal pigmentation ORPHA:2515
Joubert Syndrome 22
Microphthalmia, Coloboma, Retinal dysplasia OMIM:615665
Retinitis Pigmentosa 60
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P... OMIM:613983
Spermatogenic Failure, X-Linked, 2
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest OMIM:309120
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility, Bilateral cryptorchidism OMIM:261550
Macular Degeneration, Age-Related, 1
Macular drusen, Choroidal neovascularization, Geographic atrophy, Macular hemorrhage, Macular deg... OMIM:603075
Aplasia Cutis-Myopia Syndrome
Abnormality of retinal pigmentation ORPHA:1117
Hypotaurinemic Retinal Degeneration And Cardiomyopathy
Retinal thinning, Peripheral retinal atrophy, Macular atrophy, Retinal pigment epithelial mottlin... OMIM:145350
Retinitis Pigmentosa 37
Posterior subcapsular cataract, Pigmentary retinopathy, Nuclear cataract, Cystoid macular degener... OMIM:611131
Congenital Glaucoma
Retinal detachment ORPHA:98976
Retinitis Pigmentosa 49
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... OMIM:613756
Retinal Dystrophy With Or Without Macular Staphyloma
Bone spicule pigmentation of the retina, Retinal dystrophy, Retinal pigment epithelial mottling, ... OMIM:617547
Retinitis Pigmentosa 70
Optic disc pallor, Macular degeneration, Rod-cone dystrophy, Retinal degeneration, Attenuation of... OMIM:615922
Eem Syndrome
Macular dystrophy, Abnormality of retinal pigmentation, Retinopathy ORPHA:1897
Retinitis Pigmentosa 50
Retinal detachment, Optic disc pallor, Retinal flecks, Rod-cone dystrophy, Attenuation of retinal... OMIM:613194
Premature Ovarian Failure 13
Hypoplasia of the uterus, Oligomenorrhea, Female infertility, Amenorrhea OMIM:617442
Retinitis Pigmentosa 66
Posterior subcapsular cataract, Optic disc pallor, Bone spicule pigmentation of the retina, Rod-c... OMIM:615233
Retinitis Pigmentosa 72
Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Perip... OMIM:616469
Glutathione Synthetase Deficiency
Pigmentary retinopathy OMIM:266130
Adult-Onset Foveomacular Vitelliform Dystrophy
Retinal nonattachment, Choroideremia, Vitelliform-like macular lesions, Iris hypopigmentation ORPHA:99000
Severe Early-Childhood-Onset Retinal Dystrophy
Retinal detachment, Bone spicule pigmentation of the retina, Rhegmatogenous retinal detachment, A... ORPHA:364055
Sjögren-Larsson Syndrome
Abnormality of retinal pigmentation, Generalized hyperpigmentation, Corneal erosion, Macular dege... ORPHA:816
Cone-Rod Dystrophy 20
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina OMIM:615973
Cone-Rod Dystrophy 8
Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Macular degeneration, Retinal arter... OMIM:605549
Diabetes And Deafness, Maternally Inherited
Pigmentary retinopathy, Retinal degeneration OMIM:520000
Diprosopus
Abnormality of retinal pigmentation ORPHA:1681
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis
Exudative retinal detachment, Retinal arterial macroaneurysms OMIM:614224
Aniridia 1
Hypoplasia of the fovea, Anterior subcapsular cataract, Cataract, Optic nerve hypoplasia, Ectopia... OMIM:106210
Coloboma Of Macula With Type B Brachydactyly
Coloboma OMIM:120400
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Aplasia/Hypoplasia of the lens, Cataract ORPHA:1381
Megalocornea
Iridodonesis, Retinal detachment, Cataract, Deep anterior chamber, Mosaic corneal dystrophy, Iris... OMIM:309300
Kearns-Sayre Syndrome
Abnormality of retinal pigmentation ORPHA:480
Spinocerebellar Ataxia 7
Macular degeneration, Optic atrophy, Pigmentary retinopathy OMIM:164500
Retinitis Pigmentosa 75
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Mixed astigmatism, Attenuation of re... OMIM:617023
X-Linked Intellectual Disability, Najm Type
Cataract, Optic atrophy, Optic nerve hypoplasia, Chorioretinal coloboma ORPHA:163937
Senior-Loken Syndrome 7
Retinal degeneration OMIM:613615
Retinitis Punctata Albescens
Retinal atrophy, Macular atrophy, Retinal pigment epithelial mottling, Absent foveal reflex, Pigm... ORPHA:52427
Otodental Syndrome
Cataract, Lens coloboma, Microcornea, Retinal coloboma, Microphthalmia, Iris coloboma ORPHA:2791
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microcornea, Microphthalmia, Corneal opacity ORPHA:2432
Temtamy Syndrome
Microphthalmia, Telecanthus, Iris coloboma, Chorioretinal coloboma ORPHA:1777
Oculocutaneous Albinism Type 1B
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,... ORPHA:79434
Baraitser-Winter Syndrome 2
Telecanthus, Highly arched eyebrow, Coloboma, Long palpebral fissure, Microphthalmia, Ptosis OMIM:614583
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Pigmentary retinopathy, Retinal degeneration ORPHA:3363
Alpha-Methylacyl-Coa Racemase Deficiency
Pigmentary retinopathy, Rod-cone dystrophy, Cataract OMIM:614307
Neovascular Glaucoma
Retinal detachment, Abnormal posterior eye segment morphology, Iris neovascularization, Retinal v... ORPHA:94058
Retinitis Pigmentosa
Keratoconus, Abnormality of retinal pigmentation, Cataract, Abnormal retinal vascular morphology,... ORPHA:791
Retinitis Pigmentosa 3
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Perifoveal hypoautofluorescence OMIM:300029
Jalili Syndrome
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Macular atro... OMIM:217080
Irvan Syndrome
Retinal detachment, Vitreous floaters, Optic atrophy, Macular edema, Retinal exudate, Tractional ... ORPHA:209943
Heimler Syndrome 1
Macular dystrophy, Retinal pigment epithelial mottling OMIM:234580
Congenital Toxoplasmosis
Microphthalmia, Abnormality of retinal pigmentation ORPHA:858
Persistent Hyperplastic Primary Vitreous
Glial remnants anterior to the optic disc, Hyaloid vascular remnant and retrolental mass, Remnant... ORPHA:91495
Leg, Absence Deformity Of, With Congenital Cataract
Progressive cataract, Optic nerve dysplasia, Developmental cataract OMIM:246000
Premature Ovarian Failure 6
Streak ovary, Premature ovarian insufficiency, Female infertility, Secondary amenorrhea, Primary ... OMIM:612310
Anterior Segment Dysgenesis 7
Cataract, Corneal opacity, Sclerocornea, Buphthalmos, Microcornea, Anterior synechiae of the ante... OMIM:269400
Jalili Syndrome
Abnormality of retinal pigmentation, Optic atrophy ORPHA:1873
Congenital Rubella Syndrome
Abnormality of retinal pigmentation, Cataract, Corneal opacity, Aplasia/Hypoplasia of the iris, M... ORPHA:290
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Cataract, Microcornea, Coloboma, Iris transillumination defect, Shallow orbits, Microphthalmia, G... OMIM:617306
Cone-Rod Dystrophy 10
Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of... OMIM:610283
14Q22Q23 Microdeletion Syndrome
Optic nerve aplasia, Epicanthus, Anophthalmia, Anterior pituitary hypoplasia, Cryptorchidism, Dow... ORPHA:264200
Aniridia 2
Cataract, Optic atrophy, Lens subluxation, Aniridia, Iris coloboma OMIM:617141
Isolated Aniridia
Aniridia, Cataract, Aplasia/Hypoplasia of the macula, Peters anomaly ORPHA:250923
Laurence-Moon Syndrome
Pigmentary retinopathy, Chorioretinal atrophy OMIM:245800
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Heterochromia iridis ORPHA:1390
Retinitis Pigmentosa 51
Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of... OMIM:613464
Isolated Congenital Alacrima
Keratitis, Corneal erosion, Lacrimal gland hypoplasia, Conjunctivitis, Lacrimal punctal atresia, ... ORPHA:91416
Spermatogenic Failure, X-Linked, 7
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... OMIM:301106
Ramon Syndrome
Abnormality of retinal pigmentation, Abnormal anterior chamber morphology ORPHA:3019
Oculocutaneous Albinism Type 2
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, White eye... ORPHA:79432
Azoospermia, Obstructive, With Nephrolithiasis
Male infertility, Spermatocele, Obstructive azoospermia OMIM:301060
Joubert Syndrome 40
Almond-shaped palpebral fissure, Optic nerve hypoplasia OMIM:619582
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Retinal pigment epithelial mottling, Retinopathy, Corneal crystals OMIM:219900
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Abnormality of retinal pigmentation ORPHA:397951
Neurooculocardiogenitourinary Syndrome
Epicanthus, Patent ductus arteriosus, Coloboma, Peters anomaly, Microphthalmia OMIM:618652
Retinitis Pigmentosa 74
Posterior polar cataract, Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy OMIM:616562
Peroxisomal Acyl-Coa Oxidase Deficiency
Pigmentary retinopathy, Rod-cone dystrophy, Optic atrophy OMIM:264470
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Retinal detachment, Microphthalmia, Cataract, Optic nerve hypoplasia OMIM:615181
Chromosome 16Q12 Duplication Syndrome
Temporal optic disc pallor, Retinal pigment epithelial mottling, Cataract, Anisocoria OMIM:619649
Joubert Syndrome 28
Optic disc pallor, Pigmentary retinopathy OMIM:617121
Ectopia Lentis Et Pupillae
Retinal detachment, Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Pe... OMIM:225200
Nance-Horan Syndrome
Retinal detachment, Microphthalmia, Cataract, Microcornea ORPHA:627
Retinal Dystrophy And Iris Coloboma With Or Without Cataract
Posterior synechiae of the anterior chamber, Retinal atrophy, Iris coloboma, Developmental cataract OMIM:616722
Nasopalpebral Lipoma-Coloboma Syndrome
Lipomas of eyelids, Telecanthus, Cataract, Corneal opacity, Abnormal eyelash morphology, Sparse e... ORPHA:2399
Bardet-Biedl Syndrome 3
Pigmentary retinopathy, Rod-cone dystrophy OMIM:600151
Frontofacionasal Dysplasia
Telecanthus, Cataract, Blepharophimosis, Brushfield spots, Upper eyelid coloboma, Microcornea, Li... ORPHA:1791
Exudative Vitreoretinopathy 6
Retinal detachment, Tractional retinal detachment, Cataract, Patchy atrophy of the retinal pigmen... OMIM:616468
Intellectual Developmental Disorder, Autosomal Recessive 67
Coloboma OMIM:618295
Oculogastrointestinal Neurodevelopmental Syndrome
Unilateral ptosis, Coloboma, Bilateral microphthalmos, Unilateral microphthalmos OMIM:619318
Congenital Muscular Dystrophy With Cerebellar Involvement
Retinal detachment, Cataract, Optic nerve hypoplasia, Optic atrophy, Abnormality iris morphology,... ORPHA:370959
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Retinal detachment, Cataract, Corneal opacity, Coloboma, Microphthalmia OMIM:613153
Ring Chromosome 14 Syndrome
Pigmentary retinopathy OMIM:616606
Exudative Vitreoretinopathy 1
Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Exudative vitreoretin... OMIM:133780
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Cataract, Remnants of the hyaloid vascular system, Corneal opacity, Phthisis bulbi, Leukocoria, B... OMIM:221900
Congenital Disorder Of Glycosylation, Type Iq
Cataract, Optic atrophy, Abnormality of skin pigmentation, Coloboma, Microphthalmia OMIM:612379
Primary Lateral Sclerosis, Adult, 1
Abnormal upper motor neuron morphology OMIM:611637
Microphthalmia With Brain And Digit Anomalies
Anophthalmia, Retinal dystrophy, Cataract, Sclerocornea, Microcornea, Chorioretinal coloboma, Mic... ORPHA:139471
Spermatogenic Failure 38
Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm motility, Tapered sperm h... OMIM:618433
Ciliary Dyskinesia, Primary, 50
Male infertility, Reduced progressive sperm motility, Coiled sperm flagella, Short sperm flagella... OMIM:620356
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Retinal detachment, Epicanthus, Cataract, Corneal opacity, Chorioretinal dysplasia, Chorioretinal... OMIM:152950
Craniotelencephalic Dysplasia
Microphthalmia, Septo-optic dysplasia, Optic atrophy ORPHA:1528
Combined Hamartoma Of The Retina And Retinal Pigment Epithelium
Retinal vascular tortuosity, Abnormal optic disc morphology, Vitreoretinopathy, Nasolacrimal duct... ORPHA:440727
Bardet-Biedl Syndrome 9
Bone spicule pigmentation of the retina, Cataract, Astigmatism, Rod-cone dystrophy, Retinal degen... OMIM:615986
Microphthalmia, Isolated, With Corectopia
Microphthalmia OMIM:156900
Oculopalatocerebral Syndrome
Microphthalmia, Remnants of the hyaloid vascular system, Leukocoria OMIM:257910
Craniotelencephalic Dysplasia
Microphthalmia, Optic nerve hypoplasia OMIM:218670
Exudative Vitreoretinopathy 4
Peripheral retinal avascularization, Posterior vitreous detachment, Exudative vitreoretinopathy, ... OMIM:601813
Cone-Rod Dystrophy, X-Linked, 3
Cone/cone-rod dystrophy, Retinal detachment, Optic disc pallor, Absent foveal reflex, Astigmatism... OMIM:300476
Spermatogenic Failure 6
Male infertility, Decreased acrosin in sperm head, Globozoospermia OMIM:102530
Kniest Dysplasia
Retinal detachment, Aplasia/Hypoplasia of the lens, Rhegmatogenous retinal detachment, Cataract, ... ORPHA:485
Stickler Syndrome, Type V
Retinal detachment, Vitreoretinopathy, Cataract OMIM:614284
Zika Virus Disease
Optic disc hypoplasia, Macular atrophy, Retinal pigment epithelial mottling, Chorioretinal atroph... ORPHA:448237
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia
Rhegmatogenous retinal detachment, Lattice retinal degeneration OMIM:619248
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Abnormality of retinal pigmentation ORPHA:2521
Birt-Hogg-Dubé Syndrome
Abnormality of retinal pigmentation ORPHA:122
Neonatal Adrenoleukodystrophy
Abnormality of retinal pigmentation, Cataract, Optic atrophy ORPHA:44
Coloboma Of Macula
Macular coloboma OMIM:120300
Narp Syndrome
Retinal arteriolar tortuosity, Retinal pigment epithelial mottling, Rod-cone dystrophy, Optic dis... ORPHA:644
Waardenburg-Shah Syndrome
Abnormality of retinal pigmentation, Hypopigmentation of hair, White eyelashes, White eyebrow, Pr... ORPHA:897
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Abnormal motor neuron morphology DECIPHER:29
Spermatogenic Failure 75
Male infertility, Non-obstructive azoospermia OMIM:619949
Intellectual Developmental Disorder, Autosomal Dominant 70
Retinal detachment, Cataract, Optic nerve hypoplasia, Highly arched eyebrow, Retinal telangiectas... OMIM:620157
Waardenburg Syndrome, Type 4C
White eyelashes, White eyebrow, Aganglionic megacolon, Cryptorchidism, Blue irides, Lacrimal glan... OMIM:613266
Weill-Marchesani Syndrome 3
Shallow anterior chamber, Microspherophakia, Ectopia lentis OMIM:614819
Spermatogenic Failure 9
Male infertility, Globozoospermia OMIM:613958
Cone-Rod Dystrophy 2
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Retinal pigment epithelial atro... OMIM:120970
Spermatogenic Failure 67
Male infertility, Globozoospermia OMIM:619803
Spermatogenic Failure 68
Male infertility, Globozoospermia OMIM:619805
Spermatogenic Failure 69
Male infertility, Globozoospermia OMIM:619826
Spermatogenic Failure 66
Male infertility, Globozoospermia OMIM:619799
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma
Iridodonesis, Ectopia lentis, Deep anterior chamber, Microspherophakia, Buphthalmos, Megalocornea OMIM:251750
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
Spermatogenic Failure 15
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:616950
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Lacrimal gland aplasia, Telecanthus, Streak ovary, Ectropion, Duplicated lacrimal punctum, Elevat... ORPHA:572333
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Microphthalmia, Retinal dystrophy, Developmental cataract OMIM:613155
Canavan Disease
Abnormality of retinal pigmentation, Optic atrophy ORPHA:141
Microtia-Eye Coloboma-Imperforation Of The Nasolacrimal Duct Syndrome
Lacrimal duct atresia, Iris coloboma ORPHA:139450
Proboscis Lateralis
Anophthalmia, Abnormal morphology of bony orbit of skull, Microcornea, Eyelid coloboma, Abnormali... ORPHA:141099
Bresek Syndrome
Optic nerve hypoplasia, Microphthalmia, Aganglionic megacolon, Iris coloboma ORPHA:85284
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Cataract, Abnormally large globe, Coloboma, Microphthalmia, Retinal degeneration OMIM:615249
Choroidal Atrophy-Alopecia Syndrome
Abnormality of retinal pigmentation, Patchy atrophy of the retinal pigment epithelium ORPHA:1433
Temtamy Syndrome
Highly arched eyebrow, Lens luxation, Ectopia lentis, Chorioretinal coloboma, Microphthalmia, Dow... OMIM:218340
Premature Ovarian Failure 20
Secondary amenorrhea, Female infertility OMIM:619938
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Epicanthus, Anophthalmia, Cataract, Sclerocornea, Microcornea, Coloboma, Ectopia pupillae, Long e... OMIM:615877
Congenital Varicella Syndrome
Microphthalmia, Cataract ORPHA:291
Frontonasal Dysplasia 1
Epicanthus, Cataract, Coloboma, Microphthalmia, Ptosis OMIM:136760
Chromosome Xp11.3 Deletion Syndrome
Cataract, Posterior subcapsular cataract, Optic atrophy, Pigmentary retinopathy, Rod-cone dystrop... OMIM:300578
Curry-Jones Syndrome
Microphthalmia, Optic disc coloboma, Hypopigmented skin patches, Iris coloboma ORPHA:1553
Cardiofaciocutaneous Syndrome 4
Absent eyebrow, Epicanthus, Telecanthus, Sparse eyelashes, Optic nerve hypoplasia, Cataract, Mult... OMIM:615280
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Microphthalmia, Cataract, Optic disc pallor, Cryptorchidism OMIM:613730
Srd5A3-Cdg
Cataract, Optic disc hypoplasia, Optic atrophy, Coloboma, Spotty hyperpigmentation, Rod-cone dyst... ORPHA:324737
Abruzzo-Erickson Syndrome
Epicanthus, Microcornea, Coloboma, Chorioretinal coloboma, Iris coloboma ORPHA:921
Septooptic Dysplasia
Anterior pituitary hypoplasia, Optic disc hypoplasia, Optic nerve hypoplasia, Decreased response ... OMIM:182230
Coloboma Of Optic Nerve
Retinal detachment, Optic disc coloboma OMIM:120430
Posterior Column Ataxia With Retinitis Pigmentosa
Bone spicule pigmentation of the retina, Cataract, Optic atrophy, Pigmentary retinopathy, Rod-con... OMIM:609033
Sarcoidosis, Susceptibility To, 1
Chorioretinitis, Abnormal salivary gland morphology, Enlarged lacrimal glands, Optic neuropathy OMIM:181000
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Abnormality of retinal pigmentation, Cataract ORPHA:3085
Igg4-Related Submandibular Gland Disease
Enlarged lacrimal glands, Abnormal pancreas morphology, Enlargement of parotid gland, Abnormal sa... ORPHA:449432
Acute Zonal Occult Outer Retinopathy
Macular drusen, Retinal pigment epithelial atrophy, Abnormal retinal vascular morphology, Retinal... ORPHA:284454
Nail-Patella Syndrome
Keratoconus, Ptosis, Cataract, Antecubital pterygium, Microcornea, Microphakia, Lester's sign OMIM:161200
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome
Optic nerve hypoplasia, Aplasia/Hypoplasia of the pancreas ORPHA:65288
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Peripheral axonal neuropathy, Cataract, Corneal opacity, Optic nerve hypoplasia, Cryptorchidism, ... ORPHA:496790
Osteoporosis-Pseudoglioma Syndrome
Retinal detachment, Corneal opacity, Abnormal vitreous humor morphology, Exudative retinopathy, E... ORPHA:2788
Nabais Sa-De Vries Syndrome, Type 1
Epicanthus, Telecanthus, Optic nerve hypoplasia, Highly arched eyebrow, Synophrys, Narrow palpebr... OMIM:618828
Aplasia Of Lacrimal And Salivary Glands
Lacrimal gland hypoplasia, Absent lacrimal punctum, Lacrimal gland aplasia OMIM:180920
Phace Syndrome
Cataract, Optic nerve hypoplasia, Sclerocornea, Lens coloboma, Abnormality of the orbital region,... ORPHA:42775
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome
Retinal coloboma, Iris coloboma, Chorioretinal coloboma ORPHA:2921
Rere-Related Neurodevelopmental Syndrome
Epicanthus, Optic atrophy, Astigmatism, Chorioretinal coloboma, Peters anomaly, Blepharophimosis,... ORPHA:494344
Juvenile Paget Disease
Abnormality of retinal pigmentation, Optic atrophy, Melanocytic nevus ORPHA:2801
Spermatogenic Failure 2
Male infertility, Non-obstructive azoospermia, Azoospermia, Oligozoospermia OMIM:108420
Macrophthalmia, Colobomatous, With Microcornea
Flat cornea, Macular atrophy, Optic disc coloboma, Increased axial length of the globe, Microcorn... OMIM:602499
Bardet-Biedl Syndrome 6
Pigmentary retinopathy, Rod-cone dystrophy OMIM:605231
Coloboma, Ocular, Autosomal Recessive
Cataract, Optic disc coloboma, Retinal coloboma, Lens subluxation, Iris coloboma OMIM:216820
Pelvis-Shoulder Dysplasia
Microphthalmia, Optic disc coloboma, Iris coloboma, Opacification of the corneal stroma OMIM:169550
Arthrogryposis, Distal, Type 5
Keratoconus, Abnormality of retinal pigmentation, Keratoglobus, Astigmatism, Retinal fold OMIM:108145
Oculorenocerebellar Syndrome
Retinal degeneration OMIM:257970
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Telecanthus, Optic nerve hypoplasia, Bilateral microphthalmos, Eyelid coloboma, Hyperpigmented nevi OMIM:607597
Chromosome 19P13.13 Deletion Syndrome
Downslanted palpebral fissures, Optic atrophy, Optic nerve hypoplasia OMIM:613638
Mitochondrial Complex I Deficiency, Nuclear Type 11
Pigmentary retinopathy OMIM:618234
Abruzzo-Erickson Syndrome
Coloboma OMIM:302905
Warburg Micro Syndrome 1
Cryptorchidism, Optic atrophy, Developmental cataract, Microcornea, Microphthalmia, Ptosis OMIM:600118
Mmep Syndrome
Microphthalmia, Cryptorchidism ORPHA:3434
Mucolipidosis Type Iv
Abnormality of retinal pigmentation, Retinopathy, Corneal opacity ORPHA:578
Joubert Syndrome 16
Coloboma, Retinal dystrophy OMIM:614465
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism
Pigmentary retinopathy, Rod-cone dystrophy, Subcapsular cataract OMIM:268020
Cerebellar Ataxia-Hypogonadism Syndrome
Abnormality of retinal pigmentation, Optic atrophy ORPHA:1173
5Q14.3 Microdeletion Syndrome
Upslanted palpebral fissure, Optic nerve hypoplasia, Thick eyebrow ORPHA:228384
Alacrima, Congenital, Autosomal Dominant
Lacrimal gland hypoplasia, Punctate corneal epithelial erosions, Lacrimal punctal atresia OMIM:103420
Xeroderma Pigmentosum, Complementation Group G
Microphthalmia, Cataract OMIM:278780
Cornea Plana 2, Autosomal Recessive
Flat cornea, Corneal opacity, Sclerocornea, Corneal arcus, Decreased corneal thickness, Microphth... OMIM:217300
Joubert Syndrome 15
Retinopathy, Coloboma, Retinal dystrophy OMIM:614464
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Retinopathy, Abnormality of retinal pigmentation, Abnormal chorioretinal morphology, Chorioretina... ORPHA:5
Fryns Microphthalmia Syndrome
Microphthalmia, Anophthalmia OMIM:600776
Lissencephaly 8
Microphthalmia, Cataract, Optic atrophy OMIM:617255
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Retinal atrophy, Retinal thinning, ... ORPHA:85167
Myopia 27, Autosomal Dominant
Increased axial length of the globe OMIM:618827
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome
Epicanthus, Synophrys, Abnormal lacrimal duct morphology, Blepharophimosis, Ptosis ORPHA:126
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome
Downslanted palpebral fissures, Aplasia/Hypoplasia of the optic nerve, Unilateral cryptorchidism,... ORPHA:137634
Vitreoretinopathy, Neovascular Inflammatory
Peripheral retinal neovascularization, Retinal detachment, Large hyperpigmented retinal spots, Po... OMIM:193235
Oculofaciocardiodental Syndrome
Retinal detachment, Cataract, Highly arched eyebrow, Ectopia lentis, Patent ductus arteriosus, Mi... ORPHA:2712
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Cataract, Microcornea, Long eyelashes, Abnormality of peripheral nerve conduction, Microphthalmia... ORPHA:48431
Night Blindness, Congenital Stationary, Type 1B
Congenital stationary night blindness, Bone spicule pigmentation of the retina OMIM:257270
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Optic atrophy, Rod-cone dys... OMIM:268315
Refsum Disease
Retinopathy, Microphthalmia, Cataract, Abnormality of retinal pigmentation ORPHA:773
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma
Retinal coloboma, Macular coloboma OMIM:107550
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Re... OMIM:614643
Baraitser-Winter Syndrome 1
Epicanthus, Highly arched eyebrow, Patent ductus arteriosus, Chorioretinal coloboma, Long palpebr... OMIM:243310
Verheij Syndrome
Coloboma, Optic nerve hypoplasia OMIM:615583
Oculopharyngodistal Myopathy 3
Pigmentary retinopathy OMIM:619473
Joubert Syndrome 14
Epicanthus, Highly arched eyebrow, Morning glory anomaly, Optic atrophy, Coloboma, Microphthalmia... OMIM:614424
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Precocious puberty, Long penis, Oligozoospermia, Macroorchidism ORPHA:3000
Fundus Dystrophy, Pseudoinflammatory, Recessive Form
Retinal hemorrhage, Central retinal exudate, Peripheral retinal degeneration OMIM:264420
Cone-Rod Dystrophy 6
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Macular atrophy, Chorioretinal ... OMIM:601777
Spermatogenic Failure 77
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Azoospermia OMIM:620103
Sarcoidosis
Cataract, Facial palsy, Dacryocystitis, Enlarged lacrimal glands, Enlargement of parotid gland, K... ORPHA:797
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Retinal detachment, Retinal atrophy, Corneal opacity, Optic nerve hypoplasia, Cataract, Optic atr... OMIM:236670
Xeroderma Pigmentosum, Complementation Group B
Cataract, Freckling, Optic atrophy, Pigmentary retinopathy, Microphthalmia OMIM:610651
Norrie Disease
Retinal detachment, Aplasia/Hypoplasia of the lens, Abnormal chorioretinal morphology, Remnants o... ORPHA:649
Autosomal Recessive Spastic Paraplegia Type 15
Pigmentary retinopathy, Retinal flecks, Yellow/white lesions of the retina ORPHA:100996
Optic Atrophy-Intellectual Disability Syndrome
Keratoconus, Epicanthus, Optic disc hypoplasia, Optic nerve hypoplasia, Optic atrophy, Upslanted ... ORPHA:401777
Corpus Callosum Agenesis-Neuronopathy Syndrome
Abnormality of retinal pigmentation ORPHA:1496
Kapur-Toriello Syndrome
Microphthalmia, Patent ductus arteriosus, Retinal coloboma, Iris coloboma ORPHA:2328
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Microphthalmia, Lens coloboma OMIM:618914
Spinocerebellar Ataxia Type 32
Male infertility, Azoospermia, Testicular atrophy ORPHA:276183
Blepharophimosis, Ptosis, And Epicanthus Inversus
Premature ovarian insufficiency, Female infertility, Irregular menstruation, Microcornea, Hypopla... OMIM:110100
Microphthalmia, Syndromic 8
Cryptorchidism, Microcornea, Blepharophimosis, Microphthalmia, Short palpebral fissure OMIM:601349
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Epicanthus, Cataract, Narrow palpebral fissure, Astigmatism, Retinal coloboma, Horizontal eyebrow... OMIM:618571
Polymicrogyria With Optic Nerve Hypoplasia
Optic nerve hypoplasia ORPHA:250972
Stevenson-Carey Syndrome
Microphthalmia, Coloboma, Downslanted palpebral fissures OMIM:611961
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Microphthalmia, Cataract, Retinal pigment epithelial mottling OMIM:614105
Jeune Syndrome
Abnormality of retinal pigmentation ORPHA:474
Stromme Syndrome
Cataract, Optic nerve hypoplasia, Sclerocornea, Microcornea, Peters anomaly, Retinal vascular tor... OMIM:243605
Micro Syndrome
Abnormality of retinal pigmentation, Cataract, Optic atrophy, Microcornea, Retinal coloboma, Micr... ORPHA:2510
Coats Disease
Exudative retinal detachment, Leukocoria, Retinal telangiectasia OMIM:300216
Lacrimoauriculodentodigital Syndrome
Lacrimal gland aplasia, Absent lacrimal punctum, Increased corneal thickness, Cryptorchidism, Hyp... ORPHA:2363
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Amyotrophic Lateral Sclerosis, Susceptibility To, 25
Amyotrophic lateral sclerosis OMIM:617921
Microphthalmia, Syndromic 12
Microphthalmia, Anophthalmia, Bicornuate uterus, Cryptorchidism OMIM:615524
Walker-Warburg Syndrome
Retinal detachment, Anophthalmia, Retinal dystrophy, Chorioretinal dysplasia, Corneal opacity, Ca... ORPHA:899
Cataract 16, Multiple Types
Posterior polar cataract, Lenticonus, Retinal dystrophy, Developmental cataract OMIM:613763
Severe Oculo-Renal-Cerebellar Syndrome
Abnormality of retinal pigmentation, Cataract, Abnormal retinal vascular morphology, Optic atroph... ORPHA:2715
Neurocutaneous Melanocytosis
Abnormality of retinal pigmentation, Generalized hyperpigmentation, Numerous congenital melanocyt... ORPHA:2481
Cataract 6, Multiple Types
Posterior polar cataract, Choroideremia, Developmental cataract OMIM:116600
Cryptophthalmos, Unilateral Or Bilateral, Isolated
Microphthalmia OMIM:123570
Leber Congenital Amaurosis 15
Optic disc pallor, Posterior subcapsular cataract, Pigmentary retinopathy, Peripapillary atrophy,... OMIM:613843
Cln3 Disease
Pigmentary retinopathy, Cataract, Optic atrophy, Bull's eye maculopathy ORPHA:228346
Osteopoikilosis And Dacryocystitis
Dacryocystitis OMIM:166705
Trisomy 13
Anophthalmia, Cataract, Abnormal eyelash morphology, Abnormal retinal vascular morphology, Patent... ORPHA:3378
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Downslanted palpebral fissures, Optic nerve hypoplasia, Ptosis OMIM:618736
Congenital Muscular Dystrophy With Intellectual Disability
Pigmentary retinopathy ORPHA:370968
Bartsocas-Papas Syndrome 2
Corneal opacity, Antecubital pterygium, Ankyloblepharon, Popliteal pterygium, Microphthalmia, Axi... OMIM:619339
Uveal Melanoma
Retinal detachment, Iris melanoma, Inferior lens subluxation, Abnormal fundus morphology, Vitreou... ORPHA:39044
Pierpont Syndrome
Telecanthus, Cryptorchidism, Abnormal peripheral nervous system morphology, Microcornea, Narrow p... OMIM:602342
Orbital Margin, Hypoplasia Of
Lacrimal duct atresia, Lower eyelid coloboma, Congenital extraocular muscle anomaly OMIM:165600
Hypertrichosis Cubiti
Abnormal nasolacrimal system morphology, Abnormal eyelid morphology, Abnormal eyelash morphology,... ORPHA:2220
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Pigmentary retinopathy, Optic atrophy OMIM:252011
Vici Syndrome
Abnormality of retinal pigmentation, Cataract, Optic atrophy, Hypopigmentation of the skin, Abnor... ORPHA:1493
Cerebrooculofacioskeletal Syndrome 3
Microphthalmia OMIM:616570
Mitochondrial Complex Iv Deficiency, Nuclear Type 15
Pigmentary retinopathy OMIM:619059
Nephronophthisis 14
Retinal degeneration OMIM:614844
Phace Association
Optic nerve hypoplasia, Optic atrophy, Horner syndrome, Developmental cataract, Increased retinal... OMIM:606519
Developmental Delay With Variable Neurologic And Brain Abnormalities
Cataract, Upslanted palpebral fissure, Astigmatism, Long palpebral fissure, Microphthalmia, Spars... OMIM:619694
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia
Optic disc pallor, Epicanthus, Optic nerve hypoplasia, Abnormally large globe, Retinal coloboma, ... OMIM:300749
Neuroocular Syndrome
Synophrys, Lens coloboma, Microcornea, Iris coloboma, Hooded upper eyelid, Hypoplasia of the fove... OMIM:619539
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy
Pigmentary retinopathy ORPHA:329336
Fanconi Anemia, Complementation Group G
Multiple cafe-au-lait spots, Microphthalmia OMIM:614082
Solitary Median Maxillary Central Incisor
Microphthalmia, Coloboma, Cyclopia, Anophthalmia OMIM:147250
Fanconi Anemia, Complementation Group J
Multiple cafe-au-lait spots, Microphthalmia OMIM:609054
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Male infertility, Azoospermia, Absent vas deferens OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Male infertility, Azoospermia, Absent vas deferens OMIM:277180
Congenital Bilateral Absence Of Vas Deferens
Male infertility, Absent vas deferens, Obstructive azoospermia, Oligozoospermia ORPHA:48
Desmoid Tumor
Abnormality of retinal pigmentation ORPHA:873
Mulibrey Nanism
Pigmentary retinopathy, Corneal dystrophy, Astigmatism, Iris coloboma OMIM:253250
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Optic atrophy, Developmental cataract, Pigmentary retinopathy, Posterior synechiae of the anterio... OMIM:613154
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Aniridia, Microcornea, Cataract OMIM:106230
Pierson Syndrome
Retinal detachment, Rieger anomaly, Hypoplasia of the ciliary body, Remnants of the hyaloid vascu... OMIM:609049
Ovarian Dysgenesis 3
Primary amenorrhea, Female infertility, Aplasia of the ovary OMIM:614324
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
Epicanthus, Optic nerve hypoplasia, Hyperopic astigmatism, Upslanted palpebral fissure, Narrow pa... ORPHA:363686
Juvenile Primary Lateral Sclerosis
Abnormal upper motor neuron morphology ORPHA:247604
Neurodevelopmental Disorder With Seizures And Brain Abnormalities
Retinal pigment epithelial mottling OMIM:619517
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome
Optic nerve hypoplasia, Synophrys, Long eyelashes, Horizontal eyebrow, Thick eyebrow OMIM:618381
Ritscher-Schinzel Syndrome 3
Highly arched eyebrow, Microphthalmia, Downslanted palpebral fissures, Chorioretinal coloboma OMIM:619135
Papillorenal Syndrome
Retinal detachment, Cataract, Morning glory anomaly, Lens luxation, Macular hyperpigmentation, Op... OMIM:120330
Lowry-Wood Syndrome
Abnormality of retinal pigmentation, Astigmatism ORPHA:1824
Lacrimal Duct Defect
Dacryocystitis, Lacrimal duct atresia, Dacryocystocele, Conjunctivitis OMIM:149700
Rabin-Pappas Syndrome
Retinal detachment, Cataract, Optic nerve hypoplasia, Highly arched eyebrow, Retinal telangiectas... OMIM:620155
Nasolacrimal Duct Cyst
Chronic irritative conjunctivitis, Corneal astigmatism, Abnormal lacrimal sac morphology, Ectropi... ORPHA:141083
Osteopetrosis, Autosomal Recessive 8
Optic atrophy, Unilateral microphthalmos OMIM:615085
Aniridia, Partial, With Unilateral Renal Agenesis And Psychomotor Retardation
Aniridia, Telecanthus, Developmental glaucoma OMIM:206750
Exfoliation Syndrome
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Retinal vein occlusion, Pigmen... OMIM:177650
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome
Abnormality of retinal pigmentation, Optic atrophy ORPHA:2518
Jacobsen Syndrome
Epicanthus, Telecanthus, Abnormal eyelash morphology, Cryptorchidism, Optic atrophy, Nasolacrimal... OMIM:147791
Marcus-Gunn Syndrome
Unilateral ptosis, Coloboma, Abnormal fifth cranial nerve morphology, Morning glory anomaly ORPHA:91412
Cognitive Impairment With Or Without Cerebellar Ataxia
Optic nerve hypoplasia OMIM:614306
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity
Optic nerve hypoplasia OMIM:618890
Otodental Dysplasia
Coloboma OMIM:166750
Coach Syndrome 2
Coloboma, Chorioretinal coloboma OMIM:619111
Lacrimoauriculodentodigital Syndrome 1
Absent lacrimal punctum, Telecanthus, Hypoplastic lacrimal duct, Absence of Stensen duct, Hypopla... OMIM:149730
Multiple Sulfatase Deficiency
Abnormality of retinal pigmentation, Cataract, Optic atrophy, Corneal opacity ORPHA:585
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Pigmentary retinopathy, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Cataract ORPHA:88628
Adams-Oliver Syndrome 4
Microphthalmia, Patent ductus arteriosus OMIM:615297
Frontofacionasal Dysplasia
Telecanthus, Cataract, Ankyloblepharon, Microcornea, Eyelid coloboma, S-shaped palpebral fissures... OMIM:229400
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Classic Pantothenate Kinase-Associated Neurodegeneration
Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy ORPHA:216866
Spermatogenic Failure 28
Male infertility, Non-obstructive azoospermia, Decreased testicular size OMIM:618086
Ataxia With Vitamin E Deficiency
Abnormality of retinal pigmentation ORPHA:96
Oculo-Palato-Cerebral Syndrome
Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Leukocoria, Microphthalmia ORPHA:2714
Tetraamelia-Multiple Malformations Syndrome
Septo-optic dysplasia, Cataract, Optic atrophy, Microcornea, Microphthalmia, Iris coloboma ORPHA:3301
Tatton-Brown-Rahman Syndrome
Epicanthus, Optic nerve hypoplasia, Narrow palpebral fissure, Horizontal eyebrow, Blepharophimosi... OMIM:615879
Juvenile Neuronal Ceroid Lipofuscinosis
Optic disc pallor, Pigmentary retinopathy, Retinal degeneration ORPHA:79264
Linear Skin Defects With Multiple Congenital Anomalies 2
Microphthalmia, Optic disc pallor, Highly arched eyebrow OMIM:300887
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Microphthalmia, Optic nerve hypoplasia OMIM:614833
Bardet-Biedl Syndrome 17
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Macular atrophy, Rod-cone dystr... OMIM:615994
Kapur-Toriello Syndrome
Cataract, Patent ductus arteriosus, Retinal coloboma, Microphthalmia, Iris coloboma OMIM:244300
Joubert Syndrome 23
Coloboma OMIM:616490
Pierpont Syndrome
Telecanthus, Cryptorchidism, Microcornea, Narrow palpebral fissure, Microphthalmia ORPHA:487825
Leigh Syndrome
Pigmentary retinopathy, Optic atrophy OMIM:256000
3Q29 Microduplication Syndrome
Cataract, Sclerocornea, Aniridia, Microphthalmia, Downslanted palpebral fissures, Iris coloboma ORPHA:251038
Microphthalmia, Lenz Type
Cataract, Optic disc coloboma, Ankyloblepharon, Microcornea, Chorioretinal coloboma, Microphthalm... ORPHA:568
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Anophthalmia, Sclerocornea, Patent ductus arteriosus, Microphthalmia, Iris coloboma ORPHA:77298
Acro-Renal-Ocular Syndrome
Epicanthus, Cataract, Optic disc hypoplasia, Aganglionic megacolon, Optic disc coloboma, Microcor... ORPHA:959
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Pigmentary retinopathy OMIM:613156
Oculotrichoanal Syndrome
Anophthalmia, Upper eyelid coloboma, Nasolacrimal duct obstruction, Microphthalmia, Cryptophthalmos ORPHA:2717
Cohen Syndrome
Abnormality of retinal pigmentation, Chorioretinal dystrophy, Abnormal eyelid morphology, Abnorma... ORPHA:193
Wolfram Syndrome 1
Pigmentary retinopathy, Cataract, Optic atrophy OMIM:222300
Warburg Micro Syndrome 4
Decreased motor nerve conduction velocity, Cryptorchidism, Optic atrophy, Developmental cataract,... OMIM:615663
Congenital Bile Acid Synthesis Defect Type 4
Pigmentary retinopathy, Cataract ORPHA:79095
Cerebrooculofacioskeletal Syndrome 2
Cataract, Small scrotum, Developmental cataract, Microphthalmia, Micropenis OMIM:610756
Oculocerebrocutaneous Syndrome
Anophthalmia, Cryptorchidism, Orbital cyst, Eyelid coloboma, Microphthalmia OMIM:164180
Joubert Syndrome 3
Pigmentary retinopathy, Retinal dystrophy OMIM:608629
Xk Aprosencephaly Syndrome
Microphthalmia, Abnormal external genitalia ORPHA:3469
Joubert Syndrome 8
Optic disc pallor, Pigmentary retinopathy OMIM:612291
Tetraamelia With Ectodermal Dysplasia And Lacrimal Duct Abnormalities
Upslanted palpebral fissure, Absent lacrimal punctum, Hypoplastic lacrimal duct, Cryptorchidism OMIM:273390
Microphthalmia, Syndromic 11
Microphthalmia OMIM:614402
Adams-Oliver Syndrome 2
Microphthalmia, Narrow palpebral fissure, Optic atrophy, Developmental cataract OMIM:614219
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Retinal detachment, Epicanthus, Cataract, Long palpebral fissure, Microphthalmia, Hypopigmentatio... ORPHA:163649
Cerebrooculonasal Syndrome
Epicanthus, Anophthalmia, Sparse eyelashes, Optic nerve hypoplasia, Sparse eyebrow, Iris coloboma... OMIM:605627
Atelis Syndrome 2
Epicanthus, Remnants of the hyaloid vascular system, Patent ductus arteriosus, Developmental cata... OMIM:620185
Trichothiodystrophy 5, Nonphotosensitive
Retinal dystrophy, Optic nerve hypoplasia, Sparse eyebrow, Panhypopituitarism, Decreased testicul... OMIM:300953
Branchio-Oculo-Facial Syndrome
Cataract, Nasolacrimal duct obstruction, Microcornea, Coloboma, Upslanted palpebral fissure, Iris... ORPHA:1297
Warburg Micro Syndrome 3
Cataract, Optic atrophy, Developmental cataract, Microcornea, Shallow anterior chamber, Blepharop... OMIM:614222
Deafness, X-Linked 7
Telecanthus, Unilateral microphthalmos, Thick eyebrow, Ptosis OMIM:301018
Lethal Congenital Contracture Syndrome 1
Paucity of anterior horn motor neurons, Neonatal death OMIM:253310
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Microphthalmia, Hypogonadotropic hypogonadism ORPHA:1135
Linear Nevus Sebaceus Syndrome
Telecanthus, Melanocytic nevus, Microphthalmia, Irregular hyperpigmentation, Iris coloboma ORPHA:2612
Oculocutaneous Albinism Type 3
White eyelashes, White eyebrow, Freckling, Absent skin pigmentation, Blue irides, Optic nerve mis... ORPHA:79433
White-Sutton Syndrome
Optic nerve hypoplasia, Patent ductus arteriosus, Upslanted palpebral fissure, Astigmatism, Rod-c... OMIM:616364
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Buphthalmos, Microphthalmia, Cataract, Retinal dystrophy OMIM:616538
Hartsfield Syndrome
Microphthalmia, Telecanthus, Downslanted palpebral fissures, Ptosis ORPHA:2117
Trichothiodystrophy 4, Nonphotosensitive
Epicanthus, Sparse eyelashes, Optic atrophy, Microcornea, Keratoconjunctivitis sicca, Microphthalmia OMIM:234050
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Pigmentary retinopathy, Mottled pigmentation of photoexposed areas OMIM:560000
Spastic Paraplegia 54, Autosomal Recessive
Telecanthus, Optic nerve hypoplasia OMIM:615033
Frontorhiny
Epicanthus, Cataract, Microphthalmia, Iris coloboma, Ptosis ORPHA:391474
Chromosome 6Pter-P24 Deletion Syndrome
Pigmentary retinopathy, Axenfeld anomaly, Opacification of the corneal stroma, Peters anomaly, Oc... OMIM:612582
Fanconi Anemia, Complementation Group I
Microphthalmia, Cafe-au-lait spot, Optic nerve hypoplasia, Astigmatism OMIM:609053
Squalene Synthase Deficiency
Optic nerve hypoplasia, Epicanthus, Abnormality of hair pigmentation OMIM:618156
Optic Atrophy 11
Optic nerve hypoplasia, Optic atrophy, Facial diplegia, Cherry red spot of the macula, Decreased ... OMIM:617302
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Sparse eyelashes, Sparse eyebrow, Unilateral microphthalmos, Cafe-au-lait spot, Iris coloboma OMIM:618874
Diethylstilbestrol Syndrome
Premature ovarian insufficiency, Hypospadias, Vaginal neoplasm, Decreased fertility in females, A... ORPHA:1916
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Ambiguous genitalia, Microphthalmia, Cataract ORPHA:93267
Chromosome 2P16.1-P15 Deletion Syndrome
Epicanthus, Telecanthus, Optic nerve hypoplasia, Cryptorchidism, Blepharophimosis, Downslanted pa... OMIM:612513
Amyotrophic Lateral Sclerosis 4, Juvenile
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Pallor of dorsal columns o... OMIM:602433
Rhizomelic Chondrodysplasia Punctata, Type 2
Cataract, Zonular cataract, Optic nerve hypoplasia OMIM:222765
Kid Syndrome
Sparse eyelashes, Keratitis, Posterior blepharitis, Corneal erosion, Sparse eyebrow, Keratoconjun... ORPHA:477
Bietti Crystalline Corneoretinal Dystrophy
Marginal corneal dystrophy, Chorioretinal atrophy, Retinal degeneration, Corneal crystals OMIM:210370
Cerebral Visual Impairment
Optic disc pallor, Optic nerve hypoplasia, Optic atrophy, Retinopathy of prematurity, Increased c... ORPHA:447788
Antiphospholipid Syndrome, Familial
Retinal detachment, Keratitis, Vitritis, Central retinal artery occlusion, Retinal vasculitis, Ir... OMIM:107320
Holoprosencephaly-Craniosynostosis Syndrome
Abnormality of retinal pigmentation ORPHA:2163
Histiocytoid Cardiomyopathy
Corneal opacity, Optic atrophy, Microphthalmia, Megalocornea, Congenital aphakia ORPHA:137675
Acromelic Frontonasal Dysostosis
Telecanthus, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Downslanted palpebr... OMIM:603671
Chromosome 8Q21.11 Deletion Syndrome
Epicanthus, Cataract, Sclerocornea, Pigmentary retinopathy, Microphthalmia, Downslanted palpebral... OMIM:614230
Ectodermal Dysplasia-Blindness Syndrome
Cataract, Corneal dystrophy, Sclerocornea, Abnormality of skin pigmentation, Microcornea, Keratoc... ORPHA:1806
Multiple Benign Circumferential Skin Creases On Limbs
Epicanthus, Microcornea, Microphthalmia, Irregular hyperpigmentation, Retinopathy ORPHA:2505
19P13.13 Microdeletion Syndrome
Epicanthus, Optic nerve hypoplasia, Optic atrophy, Long eyelashes, Cafe-au-lait spot, Downslanted... ORPHA:357001
Ciliary Dyskinesia, Primary, 37
Female infertility OMIM:617577
2P15P16.1 Microdeletion Syndrome
Epicanthus, Telecanthus, Facial palsy, Optic nerve hypoplasia, Supernumerary nipple, Sparse eyebr... ORPHA:261349
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies
Epicanthus, Patent ductus arteriosus, Upslanted palpebral fissure, Coloboma, Astigmatism, Downsla... OMIM:618659
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Retinal detachment, Abnormality of retinal pigmentation, Anophthalmia, Retinal dystrophy, Chorior... ORPHA:2526
Primary Lateral Sclerosis
Abnormal lower motor neuron morphology, Atrophy of the spinal cord, Cervical spinal cord atrophy,... ORPHA:35689
Juvenile Glaucoma
Optic neuropathy, Abnormality iris morphology, Retinal arterial occlusion, Retinal vein occlusion... ORPHA:98977
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Unilateral ptosis, Facial palsy, Optic nerve hypoplasia, Almond-shaped palpebral fissure, Colobom... ORPHA:508498
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Microphthalmia, Epicanthus, Downslanted palpebral fissures OMIM:602501
Peroxisome Biogenesis Disorder 2A (Zellweger)
Cataract, Brushfield spots, Optic nerve dysplasia, Pigmentary retinopathy, Opacification of the c... OMIM:214110
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Retinal pigment epithelial mottling OMIM:617102
Warburg Micro Syndrome 2
Cataract, Cryptorchidism, Optic atrophy, Developmental cataract, Microcornea, Microphthalmia OMIM:614225
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Cataract, Optic atrophy, Ectopia pupillae, Astigmatism, Microphthalmia, Unilateral narrow palpebr... OMIM:618727
Spermatogenic Failure 14
Male infertility, Azoospermia OMIM:615842
Isolated Succinate-Coq Reductase Deficiency
Pigmentary retinopathy ORPHA:3208
Congenital Fibrosis Of Extraocular Muscles
Cataract, Optic nerve hypoplasia, Levator palpebrae superioris atrophy, Anisocoria, Congenital fi... ORPHA:45358
Roifman-Chitayat Syndrome
Optic atrophy, Lacrimal duct stenosis OMIM:613328
Sandestig-Stefanova Syndrome
Epicanthus, Laterally extended eyebrow, Highly arched eyebrow, Developmental cataract, Microphtha... OMIM:618804
Manitoba Oculotrichoanal Syndrome
Anophthalmia, Nasolacrimal duct obstruction, Eyelid coloboma, Microphthalmia, Cryptophthalmos OMIM:248450
Usher Syndrome
Abnormality of retinal pigmentation, Astigmatism, Cataract ORPHA:886
Xeroderma Pigmentosum, Complementation Group D
Cataract, Entropion, Keratitis, Keratoconjunctivitis sicca, Conjunctivitis, Microphthalmia, Corne... OMIM:278730
2Q31.1 Microdeletion Syndrome
Epicanthus, Synophrys, Optic disc coloboma, Coloboma, Microphthalmia, Downslanted palpebral fissu... ORPHA:251014
Frontonasal Dysplasia 3
Microphthalmia, Absent eyebrow, Sparse eyelashes, Upper eyelid coloboma OMIM:613456
Spermatogenic Failure, X-Linked, 4
Male infertility, Azoospermia OMIM:301077
Lissencephaly Due To Tuba1A Mutation
Aganglionic megacolon, Optic nerve hypoplasia ORPHA:171680
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Telecanthus, Corneal opacity, Optic nerve hypoplasia, Cryptorchidism, Astigmatism, Downslanted pa... OMIM:301056
Microcephaly 20, Primary, Autosomal Recessive
Microphthalmia, Optic nerve hypoplasia OMIM:617914
Ramos-Arroyo Syndrome
Aganglionic megacolon, Keratitis, Absent retinal pigment epithelium, Dacryocystitis, Chorioretina... ORPHA:1051
Partial Androgen Insensitivity Syndrome
Male infertility, Bifid scrotum, Fused labia majora, Clitoral hypertrophy, Hypospadias, Bilateral... ORPHA:90797
Duane-Radial Ray Syndrome
Epicanthus, Cataract, Optic disc hypoplasia, Facial palsy, Aganglionic megacolon, Retinal colobom... OMIM:607323
Steinfeld Syndrome
Microphthalmia, Retinal coloboma, Iris coloboma OMIM:184705
Cat Eye Syndrome
Epicanthus, Patent ductus arteriosus, Chorioretinal coloboma, Microphthalmia, Downslanted palpebr... OMIM:115470
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Hypoplasia of penis, Anophthalmia, Cataract, External genital hypoplasia, Cryptorchidism, Hypogon... ORPHA:2250
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Pigmentary retinopathy, Rod-cone dystrophy ORPHA:2235
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Epicanthus, Patent ductus arteriosus, Optic atrophy, Multiple cafe-au-lait spots, Upslanted palpe... OMIM:616975
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Retinal atrophy, Cataract, Optic atrophy, Buphthalmos, Coloboma, Hypoplasia of the retina, Retina... OMIM:253280
Classic Galactosemia
Male infertility, Premature ovarian insufficiency, Cataract, Decreased fertility in females, Cryp... ORPHA:79239
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Premature ovarian insufficiency, Female infertility OMIM:619518
Holoprosencephaly 13, X-Linked
Patent ductus arteriosus, Cyclopia, Optic nerve hypoplasia, Septo-optic dysplasia OMIM:301043
Aicardi Syndrome
Retinal detachment, Abnormality of retinal pigmentation, Optic disc coloboma, Optic atrophy, Abno... ORPHA:50
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Epicanthus, Lacrimal duct stenosis, Cryptorchidism, Optic atrophy, Ptosis ORPHA:457193
Gracile Bone Dysplasia
Aniridia, Microphthalmia OMIM:602361
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Dacryocystitis, Coloboma, Pseudohypoparathyroidism, Cryptorchidism ORPHA:464288
Aromatase Deficiency
Male infertility, Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Female infertilit... ORPHA:91
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities
Optic disc pallor, Optic atrophy, Pigmentary retinopathy OMIM:617282
Linear Skin Defects With Multiple Congenital Anomalies 1
Cataract, Sclerocornea, Pigmentary retinopathy, Peters anomaly, Microphthalmia, Iris coloboma OMIM:309801
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Optic disc pallor, Pigmentary retinopathy, Abnormality of globe size ORPHA:502423
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Multiple cafe-au-lait spots, Abnormality of retinal pigmentation, Melanocytic nevus, Generalized ... ORPHA:1969
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Highly arched eyebrow, Bilateral ptosis, Synophrys, Patent ductus arteriosus, Coloboma, Long eyel... ORPHA:329224
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome
Optic nerve hypoplasia ORPHA:572013
Weill-Marchesani Syndrome 1
Cataract, Ectopia lentis, Patent ductus arteriosus, Microspherophakia, Shallow anterior chamber, ... OMIM:277600
Monosomy 13Q14
Epicanthus, Cataract, Microphthalmia, Iris coloboma, Retinoblastoma, Ptosis ORPHA:1587
Cohen Syndrome
Bone spicule pigmentation of the retina, Optic atrophy, Chorioretinal dystrophy, Bull's eye macul... OMIM:216550
Pelvis-Shoulder Dysplasia
Bilateral microphthalmos, Microcornea, Retinal coloboma, Iris coloboma, Short palpebral fissure ORPHA:2839
Kenny-Caffey Syndrome, Type 2
Retinal calcification, Microphthalmia, Papilledema, Developmental cataract OMIM:127000
Mycophenolate Mofetil Embryopathy
Microphthalmia, Eyelid coloboma, Iris coloboma, Chorioretinal coloboma ORPHA:268249
Lowry-Wood Syndrome
Pigmentary retinopathy OMIM:226960
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Cataract, Keratoconjunctivitis, Perifoveal ring of hyperautofluorescence, Pigmentary retinopathy,... OMIM:240300
Classic Homocystinuria
Retinal detachment, Abnormality of retinal pigmentation, Cataract, Ectopia lentis, Optic atrophy ORPHA:394
8Q21.11 Microdeletion Syndrome
Ptosis, Epicanthus, Cataract, Corneal opacity, Sclerocornea, Blepharophimosis, Microphthalmia, Do... ORPHA:284160
46,Xy Partial Gonadal Dysgenesis
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Micropenis, Ovarian gonadoblasto... ORPHA:251510
Ciliary Dyskinesia, Primary, 45
Male infertility OMIM:618801
Momo Syndrome
Epicanthus, Bilateral microphthalmos, Eyelid coloboma, Chorioretinal coloboma, Downslanted palpeb... ORPHA:2563
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Pigmentary retinopathy OMIM:600462
Trisomy 18
Abnormality of retinal pigmentation, Epicanthus, Cataract, Microcornea, Blepharophimosis, Microph... ORPHA:3380
Deafness-Epiphyseal Dysplasia-Short Stature Syndrome
Retinal detachment, Nasolacrimal duct obstruction ORPHA:3218
Renal Coloboma Syndrome
Optic disc coloboma, Retinal coloboma, Optic nerve dysplasia ORPHA:1475
Congenital Fibrinogen Deficiency
Hemorrhagic ovarian cyst, Developmental cataract, Microphthalmia, Micropenis, Decreased testicula... ORPHA:335
Bardet-Biedl Syndrome
Pigmentary retinopathy ORPHA:110
Meckel Syndrome, Type 8
Ambiguous genitalia, Microphthalmia, Anophthalmia OMIM:613885
16Q24.3 Microdeletion Syndrome
Optic nerve hypoplasia, Highly arched eyebrow, Cryptorchidism, Upslanted palpebral fissure, Astig... ORPHA:261250
Seckel Syndrome 2
Few cafe-au-lait spots, Microphthalmia OMIM:606744
Fanconi Anemia, Complementation Group S
Epicanthus, Ovarian neoplasm, Upslanted palpebral fissure, Long eyelashes, Ovarian carcinoma, Ble... OMIM:617883
Triokinase And Fmn Cyclase Deficiency Syndrome
Microphthalmia, Cataract OMIM:618805
Acrofrontofacionasal Dysostosis 1
Iris atrophy, Long eyebrows, Optic atrophy, Long eyelashes, S-shaped palpebral fissures, Micropht... OMIM:201180
Dubowitz Syndrome
Ptosis, Epicanthus, Telecanthus, Hypoplasia of the iris, Blepharophimosis, Microphthalmia, Megalo... OMIM:223370
Craniofacial-Deafness-Hand Syndrome
Blepharophimosis, Downslanted palpebral fissures, Lacrimal duct atresia ORPHA:1529
Septo-Optic Dysplasia Spectrum
Cryptorchidism, Septo-optic dysplasia, Optic nerve hypoplasia, Anterior pituitary hypoplasia ORPHA:3157
Aceruloplasminemia
Macular degeneration, Abnormality of retinal pigmentation, Retinal degeneration ORPHA:48818
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Male infertility, Short sperm flagella, Coiled sperm flagella OMIM:620197
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Upslanted palpebral fissure, Coloboma OMIM:616789
Braddock-Carey Syndrome 2
Microphthalmia, Downslanted palpebral fissures OMIM:619981
Retinoblastoma
Abnormality of retinal pigmentation, Subretinal pigment epithelium hemorrhage, Leukocoria, Retina... ORPHA:790
Ring Chromosome 10 Syndrome
Downslanted palpebral fissures, Microphthalmia, Aganglionic megacolon ORPHA:1438
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs
Iris atrophy, Cataract, Ectopia lentis, Spherophakia, Anterior synechiae of the anterior chamber,... OMIM:601552
Kearns-Sayre Syndrome
Pigmentary retinopathy OMIM:530000
Ramon Syndrome
Axenfeld anomaly, Optic disc pallor, Pigmentary retinopathy OMIM:266270
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Retinal detachment, Cataract, Optic atrophy, Retinal dysplasia, Microphthalmia OMIM:253800
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Upslanted palpebral fissure, Microphthalmia, Ocular albinism, Blepharophimosis ORPHA:1352
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Ptosis, Epicanthus, Lacrimal duct stenosis, Optic nerve hypoplasia, Highly arched eyebrow, Patent... OMIM:617506
Weill-Marchesani Syndrome 2
Iridodonesis, Cataract, Lens luxation, Ectopia lentis, Patent ductus arteriosus, Microspherophaki... OMIM:608328
Cerebrooculofacioskeletal Syndrome 1
Blepharophimosis, Microphthalmia, Cataract, Cryptorchidism OMIM:214150
Werner Syndrome
Premature graying of hair, Abnormality of retinal pigmentation, White forelock, Cataract ORPHA:902
Bosma Arhinia Microphthalmia Syndrome
Cataract, Synophrys, Lacrimal duct atresia, Coloboma, Microphthalmia OMIM:603457
Prolidase Deficiency
Abnormality of retinal pigmentation, White forelock ORPHA:742
Rodrigues Blindness
Microcornea, Microphthalmia, Sclerocornea OMIM:268320
Cockayne Syndrome Type 1
Anophthalmia, Cataract, Hypermelanotic macule, Optic atrophy, Pigmentary retinopathy, Conjunctivitis ORPHA:90321
Chromosome 17Q12 Duplication Syndrome
Microphthalmia, Downslanted palpebral fissures, Peters anomaly OMIM:614526
D-Glyceric Aciduria
Patent ductus arteriosus, Optic nerve hypoplasia OMIM:220120
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility OMIM:618948
Ciliary Dyskinesia, Primary, 36, X-Linked
Male infertility OMIM:300991
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Coloboma OMIM:601357
Complete Androgen Insensitivity Syndrome
Male infertility, Abnormal uterine cervix morphology, Testicular neoplasm, Bilateral cryptorchidi... ORPHA:99429
Split hand/foot malformation 1 (SHFM1)
Lacrimal duct aplasia DECIPHER:46
Dacryocystitis-Osteopoikilosis Syndrome
Dacryocystitis ORPHA:1562
1Q21.1 Microdeletion Syndrome
Epicanthus, Cataract, Patent ductus arteriosus, Microphthalmia, Iris coloboma ORPHA:250989
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Epicanthus, Optic nerve hypoplasia, Bilateral ptosis, Congenital fibrosis of extraocular muscles,... ORPHA:300570
Joubert Syndrome 2
Microphthalmia, Optic disc coloboma, Retinal dystrophy, Chorioretinal coloboma OMIM:608091
Microphthalmia With Linear Skin Defects Syndrome
Abnormality of retinal pigmentation, Anophthalmia, Retinal dystrophy, Chorioretinal dysplasia, Sc... ORPHA:2556
Cree Mental Retardation Syndrome
Coloboma, Downslanted palpebral fissures, Ptosis OMIM:606851
Trichothiodystrophy 3, Photosensitive
Cataract, Bilateral cryptorchidism, Developmental cataract, Microphthalmia, Ectropion OMIM:616395
Coffin-Lowry Syndrome
Abnormality of retinal pigmentation, Cataract, Optic atrophy ORPHA:192
Developmental And Epileptic Encephalopathy 1
Microphthalmia, Micropenis OMIM:308350
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome
Absent lacrimal punctum, Telecanthus, Highly arched eyebrow, Absent eyelashes, Thick eyebrow, Ptosis ORPHA:228396
Mitochondrial Trifunctional Protein Deficiency 1
Pigmentary retinopathy OMIM:609015
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Microphthalmia, Telecanthus, Iris coloboma ORPHA:1236
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Microphthalmia, Hypoplasia of penis ORPHA:2547
Incontinentia Pigmenti
Hypoplasia of the fovea, Retinal detachment, Cataract, Supernumerary nipple, Retinal vascular pro... OMIM:308300
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies
Epicanthus, Supernumerary nipple, Sparse eyebrow, Synophrys, Upslanted palpebral fissure, Microph... OMIM:620098
Pantothenate Kinase-Associated Neurodegeneration
Bull's eye maculopathy, Optic atrophy, Pigmentary retinopathy, Retinal flecks, Rod-cone dystrophy... ORPHA:157850
Focal Dermal Hypoplasia
Corneal opacity, Ectopia lentis, Patent ductus arteriosus, Abnormality of skin pigmentation, Hypo... ORPHA:2092
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Corneal opacity, Corneal dystrophy, Optic nerve hypoplasia, Sparse eyebrow, Cryptorchidism, Synop... ORPHA:495875
Familial Multiple Lipomatosis
Coloboma, Chorioretinitis ORPHA:199276
Alstrom Syndrome
Cone/cone-rod dystrophy, Pigmentary retinopathy, Subcapsular cataract OMIM:203800
Skin Creases, Congenital Symmetric Circumferential, 1
Epicanthus, Microcornea, Upslanted palpebral fissure, Hypoplastic nipples, Blepharophimosis, Micr... OMIM:156610
Pseudotrisomy 13 Syndrome
Upslanted palpebral fissure, Microphthalmia, Cyclopia OMIM:264480
Oculodentodigital Dysplasia, Autosomal Recessive
Telecanthus, Epicanthus, Sparse eyelashes, Cataract, Microcornea, Persistent pupillary membrane, ... OMIM:257850
Moebius Syndrome
Epicanthus, Congenital fibrosis of extraocular muscles, Facial diplegia, Microphthalmia, Decrease... OMIM:157900
Encephalocraniocutaneous Lipomatosis
Linear hyperpigmentation, Sclerocornea, Hypoplasia of the iris, Eyelid coloboma, Limbal dermoid, ... OMIM:613001
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome
Lacrimal duct stenosis, Sparse eyebrow, Cryptorchidism, Downslanted palpebral fissures, Ptosis ORPHA:73246
Hypertelorism, Preauricular Sinus, Punctal Pits, And Deafness
Nasolacrimal duct obstruction OMIM:614187
Holoprosencephaly
Epicanthus, Anophthalmia, Highly arched eyebrow, Synophrys, Optic atrophy, Upslanted palpebral fi... ORPHA:2162
Galloway-Mowat Syndrome 1
Epicanthus, Cataract, Optic atrophy, Hypoplasia of the iris, Opacification of the corneal stroma,... OMIM:251300
Coach Syndrome 1
Coloboma, Optic disc pallor, Ptosis OMIM:216360
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Pigmentary retinopathy, Optic atrophy ORPHA:436271
Bardet-Biedl Syndrome 1
Bone spicule pigmentation of the retina, Cataract, Retinal dystrophy, Hyperautofluorescent macula... OMIM:209900
Brachytelephalangic Chondrodysplasia Punctata
Patent ductus arteriosus, Cataract, Optic disc hypoplasia, Optic nerve hypoplasia ORPHA:79345
Cockayne Syndrome
Abnormality of retinal pigmentation, Optic disc pallor, Retinal atrophy, Retinal dystrophy, Catar... ORPHA:191
Ritscher-Schinzel Syndrome 1
Coloboma, Downslanted palpebral fissures OMIM:220210
Hallermann-Streiff Syndrome
Cataract, Sparse eyelashes, Sparse eyebrow, Optic disc coloboma, Chorioretinal coloboma, Micropht... OMIM:234100
Joubert Syndrome 37
Microphthalmia, Micropenis, Decreased testicular size, Cryptorchidism OMIM:619185
Mucopolysaccharidosis, Type Ii
Papilledema, Abnormality of retinal pigmentation OMIM:309900
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Optic nerve hypoplasia, Coloboma, Abnormal optic nerve morphology, Shallow orbits, Long palpebral... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Optic nerve hypoplasia, Coloboma, Abnormal optic nerve morphology, Shallow orbits, Long palpebral... ORPHA:352665
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Microphthalmia, Small scrotum, Hypogonadism, Cryptorchidism ORPHA:228390
Schimmelpenning-Feuerstein-Mims Syndrome
Coloboma, Hypopigmentation of the skin, Corneal opacity OMIM:163200
Ciliary Dyskinesia, Primary, 34
Male infertility, Immotile sperm OMIM:617091
Curry-Jones Syndrome
Blepharophimosis, Microphthalmia, Iris coloboma OMIM:601707
Nance-Horan Syndrome
Microcornea, Microphthalmia, Posterior Y-sutural cataract, Developmental cataract OMIM:302350
17Q12 Microduplication Syndrome
Microphthalmia, Synophrys ORPHA:261272
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities
Hypoplastic nipples, Nasolacrimal duct obstruction OMIM:273400
Neuromuscular Oculoauditory Syndrome
Chorioretinal lacunae, Retinal pigment epithelial mottling OMIM:618733
Lacrimoauriculodentodigital Syndrome 2
Absent lacrimal punctum, Lacrimal duct atresia, Conjunctivitis, Lacrimal duct aplasia OMIM:620192
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Highly arched eyebrow, Bilateral ptosis, Upslanted palpebral fissure, Blepharophimosis, Microphth... ORPHA:404440
Cerebrooculofacioskeletal Syndrome 4
Bilateral microphthalmos, Abnormal retinal morphology OMIM:610758
Maternal Uniparental Disomy Of Chromosome 4
Pigmentary retinopathy, Rod-cone dystrophy, Optic atrophy ORPHA:96180
Osteoporosis-Pseudoglioma Syndrome
Iris atrophy, Cataract, Phthisis bulbi, Retinal calcification, Exudative retinopathy, Vitreoretin... OMIM:259770
Rubinstein-Taybi Syndrome
Epicanthus, Telecanthus, Highly arched eyebrow, Cryptorchidism, Nasolacrimal duct obstruction, Do... ORPHA:783
Myopathy, Mitochondrial, And Ataxia
Pigmentary retinopathy OMIM:617675
Chromosome 13Q14 Deletion Syndrome
Epicanthus, Chorioretinal coloboma, Microphthalmia, Iris coloboma, Retinoblastoma OMIM:613884
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Epicanthus, Bilateral microphthalmos, Upslanted palpebral fissure, Horizontal eyebrow, Ocular ant... ORPHA:369891
Spondylodysplastic Ehlers-Danlos Syndrome
Corneal opacity, Optic nerve hypoplasia, Posterior subcapsular cataract, Optic disc coloboma, Meg... ORPHA:536471
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Optic nerve hypoplasia OMIM:617864
Charcot-Marie-Tooth Disease Type 1F
Decreased nerve conduction velocity, Absent brainstem auditory responses, Decreased number of lar... ORPHA:101085
Subaortic Stenosis-Short Stature Syndrome
Microphthalmia, Epicanthus ORPHA:3191
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Lacrimal duct stenosis, Optic nerve hypoplasia, Palpebral edema, Dermatochalasis, Hyperpigmentati... ORPHA:221139
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Pigmentary retinopathy, Optic atrophy OMIM:220110
Fg Syndrome Type 1
Downslanted palpebral fissures, Cryptorchidism, Small pituitary gland, Optic nerve hypoplasia ORPHA:93932
Marfan Syndrome
Retinal detachment, Cataract, Ectopia lentis, Microspherophakia, Increased axial length of the gl... OMIM:154700
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness
Lacrimal duct stenosis OMIM:609057
Incontinentia Pigmenti
Retinal detachment, Cataract, Abnormal chorioretinal morphology, Corneal opacity, Retinal vascula... ORPHA:464
Monosomy 18P
Microphthalmia, Epicanthus, Ptosis ORPHA:1598
Basel-Vanagaite-Smirin-Yosef Syndrome
Epicanthus, Cataract, Microcornea, Microphthalmia, Downslanted palpebral fissures, Ptosis OMIM:616449
Hydrolethalus
Microphthalmia, Anophthalmia, Abnormal fallopian tube morphology, Cryptorchidism ORPHA:2189
Lymphedema-Distichiasis Syndrome
Ptosis, Patent ductus arteriosus, Corneal ulceration, Conjunctivitis, Recurrent corneal erosions,... OMIM:153400
3Q29 Microdeletion Syndrome
Cataract, Patent ductus arteriosus, Abnormality of skin pigmentation, Microphthalmia, Downslanted... ORPHA:65286
Treacher Collins Syndrome 1
Sparse lower eyelashes, Lacrimal duct stenosis, Cryptorchidism, Bilateral microphthalmos, Upper e... OMIM:154500
X-Linked Dominant Chondrodysplasia Punctata
Cataract, Sparse eyelashes, Sparse eyebrow, Microcornea, Microphthalmia, Downslanted palpebral fi... ORPHA:35173
Khan-Khan-Katsanis Syndrome
Buphthalmos, Pigmentary retinopathy, Corneal scarring, Peters anomaly OMIM:618460
Craniosynostosis 4
Ectopic posterior pituitary, Optic nerve hypoplasia OMIM:600775
Aicardi Syndrome
Retinal detachment, Cataract, Chorioretinal lacunae, Optic disc coloboma, Optic atrophy, Micropht... OMIM:304050
Microphthalmia With Limb Anomalies
Anophthalmia, Abnormal eyelash morphology, Blepharophimosis, Microphthalmia, Downslanted palpebra... OMIM:206920
Fetal Alcohol Syndrome
Microphthalmia, Epicanthus, Telecanthus, Ptosis ORPHA:1915
Microphthalmia, Syndromic 2
Retinal detachment, Anophthalmia, Remnants of the hyaloid vascular system, Patent ductus arterios... OMIM:300166
Primary Ciliary Dyskinesia
Male infertility, Abnormal sperm motility, Female infertility ORPHA:244
Microphthalmia-Brain Atrophy Syndrome
Bilateral microphthalmos ORPHA:77299
Iridocorneal Endothelial Syndrome
Iris atrophy, Central heterochromia, Uveal ectropion, Abnormal migration of corneal endothelium, ... ORPHA:64734
Fontaine Progeroid Syndrome
Aplastic/hypoplastic lacrimal glands, Absent nipple, Cryptorchidism, Synophrys, Hypoplastic nippl... OMIM:612289
Peroxisome Biogenesis Disorder 1A (Zellweger)
Optic disc pallor, Cataract, Brushfield spots, Pigmentary retinopathy, Opacification of the corne... OMIM:214100
Matthew-Wood Syndrome
Microphthalmia, Anophthalmia, Abnormality of the uterus, Cryptorchidism ORPHA:2470
3P25.3 Microdeletion Syndrome
Epicanthus, Patent ductus arteriosus, Blepharophimosis, Microphthalmia, Downslanted palpebral fis... ORPHA:435638
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Sparse eyelashes, Supernumerary nipple, Absent eyelashes, Lacrimal duct atresia, Ankyloblepharon,... OMIM:106260
Infantile Nephropathic Cystinosis
Pigmentary retinopathy, Abnormal cornea morphology, Corneal crystals ORPHA:411629
Linear Skin Defects With Multiple Congenital Anomalies 3
Microphthalmia, Lacrimal duct atresia, Thyroid C cell hyperplasia, Sclerocornea OMIM:300952
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Telecanthus, Corneal opacity, Delayed peripheral myelination, Synophrys, Thin eyebrow, Microphtha... ORPHA:364577
Poikiloderma With Neutropenia
Sparse eyebrow, Nasolacrimal duct obstruction, Conjunctivitis, Blepharitis, Sparse lateral eyebrow OMIM:604173
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Retinal dystrophy, Hypoplasia of eyelid, Optic nerve hypoplasia, Optic atrophy, Generalized hypop... OMIM:619321
47,Xyy Syndrome
Male infertility, Hypospadias, Cryptorchidism, Oligozoospermia, Azoospermia, Macroorchidism, Micr... ORPHA:8
Mitochondrial Trifunctional Protein Deficiency
Pigmentary retinopathy ORPHA:746
Branchiootorenal Syndrome 1
Lacrimal duct aplasia, Euthyroid goiter, Lacrimal duct stenosis, Facial palsy OMIM:113650
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Optic disc pallor, Optic nerve hypoplasia, Cryptorchidism, Bilateral microphthalmos, Abnormality ... ORPHA:468631
Cockayne Syndrome Type 3
Optic disc pallor, Peripheral axonal neuropathy, Retinal atrophy, Retinal dystrophy, Cataract, Re... ORPHA:90324
Peroxisome Biogenesis Disorder 5A (Zellweger)
Cataract, Brushfield spots, Optic nerve dysplasia, Optic atrophy, Pigmentary retinopathy, Opacifi... OMIM:614866
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Male infertility, Bifid scrotum, Hypospadias, Precocious puberty in females, Bilateral cryptorchi... ORPHA:90793
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Pigmentary retinopathy ORPHA:71212
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Laterally extended eyebrow, Hooded eyelid, Highly arched eyebrow, Cryptorchidism, Synophrys, Naso... OMIM:610759
8Q24.3 Microdeletion Syndrome
Epicanthus, Optic nerve hypoplasia, Highly arched eyebrow, Patent ductus arteriosus, Bilateral mi... ORPHA:508488
Tubulointerstitial Nephritis And Uveitis Syndrome
Papilledema, Abnormality of retinal pigmentation, Cataract, Choroidal neovascularization, Anterio... ORPHA:91500
Treacher-Collins Syndrome
Cataract, Absent eyelashes, Patent ductus arteriosus, Blepharospasm, Eyelid coloboma, Microphthal... ORPHA:861
Aspergillosis
Keratitis, Dacryocystitis, Vitritis ORPHA:1163
Neurofibromatosis Type 1
Abnormality of retinal pigmentation, Generalized hyperpigmentation, Corneal opacity, Cataract, Hy... ORPHA:636
Cockayne Syndrome B
Optic atrophy, Developmental cataract, Hypoplasia of the iris, Abnormality of skin pigmentation, ... OMIM:133540
Abetalipoproteinemia
Abnormality of retinal pigmentation, Keratoconjunctivitis sicca, Corneal ulceration, Rod-cone dys... ORPHA:14
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Microphthalmia, Epicanthus OMIM:618494
Meckel Syndrome, Type 5
Microphthalmia OMIM:611561
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures
Optic nerve hypoplasia, Shallow orbits OMIM:620029
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Corneal opacity, Retinal arteriolar tortuosity, Polycoria, Retinal hemorrhage, Developmental cata... OMIM:175780
Chromosome 1Q41-Q42 Deletion Syndrome
Supernumerary nipple, Sparse eyebrow, Cryptorchidism, Upslanted palpebral fissure, Microphthalmia... OMIM:612530
Vacterl With Hydrocephalus
Microcornea, Microphthalmia, Anophthalmia, Abnormal optic nerve morphology ORPHA:3412
Rothmund-Thomson Syndrome, Type 2
Absent eyebrow, Epicanthus, Cataract, Sparse eyelashes, Absent eyelashes, Sparse eyebrow, Prematu... OMIM:268400
Martsolf Syndrome 1
Cataract, Hypogonadotropic hypogonadism, Cryptorchidism, Developmental cataract, Microphthalmia, ... OMIM:212720
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Amyotrophic lateral sclerosis, Abnormal motor neuron morphology ORPHA:52430
Thauvin-Robinet-Faivre Syndrome
Epicanthus, Coloboma, Retinal coloboma, Long palpebral fissure, Downslanted palpebral fissures OMIM:617107
Encephalocraniocutaneous Lipomatosis
Corneal opacity, Abnormal nasolacrimal system morphology, Abnormal eyelid morphology, Abnormal ey... ORPHA:2396
Frontonasal Dysplasia 2
Telecanthus, Sparse eyelashes, Sparse eyebrow, Upslanted palpebral fissure, Blepharophimosis, Mic... OMIM:613451
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Microphthalmia, Cyclopia, Iris coloboma ORPHA:3186
Basal Cell Nevus Syndrome 1
Microphthalmia, Cataract, Orbital cyst, Iris coloboma OMIM:109400
Marden-Walker Syndrome
Blepharophimosis, Microphthalmia, Epicanthus, Ptosis OMIM:248700
Trichothiodystrophy 1, Photosensitive
Cataract, Freckling, Microcornea, Keratoconjunctivitis sicca, Microphthalmia OMIM:601675
Ciliary Dyskinesia, Primary, 9
Male infertility OMIM:612444
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Abnormality of retinal pigmentation, Cataract ORPHA:466768
Cartilage-Hair Hypoplasia
Abnormality of retinal pigmentation, Aplasia/Hypoplasia affecting the eye ORPHA:175
Monosomy 9Q22.3
Epicanthus, Cataract, Downslanted palpebral fissures, Microphthalmia, Retinopathy ORPHA:77301
Meckel Syndrome
Anophthalmia, Abnormal chorioretinal morphology, Cataract, Sclerocornea, Pancreatic fibrosis, Pan... ORPHA:564
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Macular coloboma, Optic atrophy, Pigmentary retinopathy, Abnormality of macular pigmentation, Ret... ORPHA:79282
45,X/46,Xy Mixed Gonadal Dysgenesis
Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, Ambiguous genit... ORPHA:1772
Ciliary Dyskinesia, Primary, 18
Male infertility, Immotile sperm OMIM:614874
Mucopolysaccharidosis Type 2
Papilledema, Abnormality of retinal pigmentation, Corneal opacity, Abnormal foveal morphology, Op... ORPHA:580
Amyotrophic Lateral Sclerosis 21
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Abnormal upper motor neuro... OMIM:606070
Bartsocas-Papas Syndrome 1
Absent eyebrow, Ablepharon, Cicatricial lagophthalmos, Bilateral cryptorchidism, Absent eyelashes... OMIM:263650
Holoprosencephaly 9
Anophthalmia, Anterior pituitary hypoplasia, Optic nerve hypoplasia, Decreased response to growth... OMIM:610829
Chédiak-Higashi Syndrome
Abnormality of retinal pigmentation, Hypopigmentation of hair, Large clumps of pigment irregularl... ORPHA:167
Renpenning Syndrome 1
Epicanthus, Telecanthus, Cataract, Upslanted palpebral fissure, Coloboma, Microphthalmia, Sparse ... OMIM:309500
Branchiootic Syndrome
Abnormal nasolacrimal system morphology, Facial palsy ORPHA:52429
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Abnormality of retinal pigmentation, Conjunctivitis, Optic atrophy ORPHA:505248
Alagille Syndrome 1
Posterior embryotoxon, Cataract, Band keratopathy, Chorioretinal atrophy, Microcornea, Pigmentary... OMIM:118450
Noonan Syndrome 14
Epicanthus, Lacrimal duct stenosis, Sparse eyebrow, Cryptorchidism, Downslanted palpebral fissures OMIM:619745
Adult Syndrome
Absent nipple, Nasolacrimal duct obstruction, Conjunctivitis, Hypoplastic nipples, Breast hypoplasia OMIM:103285
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Thyroid hypoplasia, Epicanthus, Absent nipple, Aplasia of the thymus, Facial palsy, Sparse eyebro... OMIM:620186
Mucopolysaccharidosis Type 3
Cataract, Corneal opacity, Optic atrophy, Pigmentary retinopathy, Opacification of the corneal st... ORPHA:581
Marshall-Smith Syndrome
Optic nerve hypoplasia, Highly arched eyebrow, Synophrys, Patent ductus arteriosus, Melanocytic n... OMIM:602535
Chondrodysplasia Punctata 2, X-Linked Dominant
Cataract, Sparse eyelashes, Sparse eyebrow, Microphthalmia, Downslanted palpebral fissures OMIM:302960
Spondylocarpotarsal Synostosis Syndrome
Abnormality of retinal pigmentation, Cataract OMIM:272460
Pituitary Stalk Interruption Syndrome
Cryptorchidism, Septo-optic dysplasia, Ectopic posterior pituitary ORPHA:95496
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Ptosis, Microphthalmia, Blepharophimosis, Cryptorchidism ORPHA:2728
Ohdo Syndrome, X-Linked
Epicanthus, Sparse eyebrow, Blepharophimosis, Microphthalmia, Cafe-au-lait spot, Downslanted palp... OMIM:300895
Phakomatosis Pigmentokeratotica
Coloboma, Pheochromocytoma, Melanocytic nevus ORPHA:2874
Beck-Fahrner Syndrome
Lacrimal duct stenosis, Ptosis OMIM:618798
Ciliary Dyskinesia, Primary, 14
Male infertility, Reduced sperm motility, Immotile sperm OMIM:613807
Limb-Mammary Syndrome
Lacrimal duct atresia, Hypoplastic nipples OMIM:603543
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Retinal pigment epithelial mottling, Cataract OMIM:607459
Dyskeratosis Congenita, Autosomal Recessive 1
Pterygium, Sparse eyelashes, Nasolacrimal duct obstruction OMIM:224230
Pancreatic And Cerebellar Agenesis
Pancreatic hypoplasia, Optic nerve hypoplasia, Pancreatic aplasia OMIM:609069
Charge Syndrome
Epicanthus, Anophthalmia, Facial palsy, Highly arched eyebrow, Patent ductus arteriosus, Optic at... ORPHA:138
Autosomal Dominant Kenny-Caffey Syndrome
Retinal calcification, Papilledema, Bilateral microphthalmos, Developmental cataract ORPHA:93325
Otofaciocervical Syndrome 2, With T-Cell Deficiency
Periorbital dermoid cyst, Conjunctivitis, Lacrimal duct stenosis OMIM:615560
Basel-Vanagaite-Smirin-Yosef Syndrome
Epicanthus, Sparse eyebrow, Developmental cataract, Microcornea, Microphthalmia, Downslanted palp... ORPHA:464738
Holoprosencephaly-Postaxial Polydactyly Syndrome
Microphthalmia, Cyclopia ORPHA:2166
Cockayne Syndrome A
Retinal atrophy, Cataract, Retinal pigment epithelial mottling, Optic atrophy, Abnormality of ski... OMIM:216400
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Microphthalmia OMIM:619053
Branchiootic Syndrome 3
Lacrimal duct stenosis OMIM:608389
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Microphthalmia OMIM:300863
Full Nf2-Related Schwannomatosis
Remnants of the hyaloid vascular system, Retinal hamartoma, Epiretinal membrane, Posterior subcap... ORPHA:637
Trichothiodystrophy
Epicanthus, Bilateral microphthalmos, Developmental cataract, Microcornea, Macular degeneration, ... ORPHA:33364
Developmental Delay With Or Without Dysmorphic Facies And Autism
Epicanthus, Supernumerary nipple, Highly arched eyebrow, Cryptorchidism, Optic disc coloboma, Ups... OMIM:618454
Lacrimoauriculodentodigital Syndrome 3
Absent eyelashes, Absent lacrimal punctum, Epicanthus, Lacrimal duct aplasia OMIM:620193
Myoclonic-Astatic Epilepsy
Microphthalmia ORPHA:1942
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Dacryocystitis, Cryptorchidism, Coloboma, Downslanted palpebral fissures, Decreased testicular size ORPHA:251028
Fanconi Anemia, Complementation Group A
Male infertility, Microphthalmia, Hypergonadotropic hypogonadism, Cryptorchidism OMIM:227650
Mucopolysaccharidosis Type 2, Severe Form
Papilledema, Abnormality of retinal pigmentation, Corneal opacity, Abnormal foveal morphology, Op... ORPHA:217085
Fanconi Anemia
Epicanthus, Cataract, Aganglionic megacolon, Abnormal eyelid morphology, Almond-shaped palpebral ... ORPHA:84
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Pigmentary retinopathy OMIM:277400
Sponastrime Dysplasia
Microcoria, Epicanthus, Cataract, Congenital aphakia ORPHA:93357
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Cataract, Buphthalmos, Persistent pupillary membrane, Peters anomaly, Microphthalmia OMIM:613150
Mowat-Wilson Syndrome
Cataract, Aganglionic megacolon, Patent ductus arteriosus, Microcornea, Ectopia pupillae, Chorior... OMIM:235730
Asparagine Synthetase Deficiency
Optic nerve hypoplasia OMIM:615574
Mucopolysaccharidosis Type 2, Attenuated Form
Papilledema, Abnormality of retinal pigmentation, Corneal opacity, Abnormal foveal morphology, Op... ORPHA:217093
Chromosome 13Q33-Q34 Deletion Syndrome
Patent ductus arteriosus, Microphthalmia, Epicanthus, Cafe-au-lait spot OMIM:619148
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Cone/cone-rod dystrophy, Optic disc pallor, Optic atrophy, Corneal scarring, Pigmentary retinopat... ORPHA:404454
Bor Syndrome
Abnormal lacrimal duct morphology, Facial palsy ORPHA:107
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Microphthalmia, Micropenis, Cryptorchidism OMIM:241410
Holoprosencephaly 2
Remnants of the hyaloid vascular system, Chorioretinal coloboma, Microphthalmia, Cyclopia, Iris c... OMIM:157170
Mosaic Trisomy 9
Hypoplasia of penis, Corneal opacity, Cryptorchidism, Abnormality of the uterus, Abnormal fallopi... ORPHA:99776
Mitochondrial Dna-Associated Leigh Syndrome
Pigmentary retinopathy, Rod-cone dystrophy, Optic atrophy ORPHA:255210
Hydranencephaly
Chorioretinal atrophy, Optic nerve hypoplasia, Atrophic pituitary gland ORPHA:2177
Nijmegen Breakage Syndrome
Conjunctival telangiectasia, Retinal pigment epithelial mottling, Cafe-au-lait spot, Progressive ... OMIM:251260
Holoprosencephaly 7
Synophrys, Bilateral microphthalmos, Upslanted palpebral fissure, Shallow orbits, Microphthalmia,... OMIM:610828
Branchiooculofacial Syndrome
Telecanthus, Anophthalmia, Cataract, Facial palsy, Supernumerary nipple, Cryptorchidism, Nasolacr... OMIM:113620
Neurodegeneration With Brain Iron Accumulation 1
Pigmentary retinopathy, Optic atrophy, Retinal degeneration, Hyperpigmentation of the skin OMIM:234200
Premature Aging Syndrome, Penttinen Type
Corneal opacity, Hypermyelinated retinal nerve fibers, Corneal stromal edema, Shallow orbits, Mic... OMIM:601812
Mend Syndrome
Telecanthus, Cataract, Abnormal auditory evoked potentials, Spotty hypopigmentation, Upslanted pa... ORPHA:401973
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Epicanthus, Cataract, Sparse eyelashes, Sparse eyebrow, Eyelid coloboma, Microphthalmia, Ptosis ORPHA:306542
Melas
Pigmentary retinopathy, Optic atrophy, Vitiligo ORPHA:550
Adult Syndrome
Hypoplastic nipples, Absent nipple, Nasolacrimal duct obstruction, Breast hypoplasia ORPHA:978
Deafness-Enamel Hypoplasia-Nail Defects Syndrome
Abnormal eyebrow morphology, Abnormal nasolacrimal system morphology, Thin eyebrow, Abnormal eyel... ORPHA:3220
Arboleda-Tham Syndrome
Epicanthus, Lacrimal duct stenosis, Highly arched eyebrow, Bilateral cryptorchidism, Optic atroph... OMIM:616268
Meckel Syndrome, Type 2
Microphthalmia, Bile duct proliferation OMIM:603194
Microphthalmia, Syndromic 6
Anophthalmia, Retinal dystrophy, Sclerocornea, Orbital cyst, Microcornea, Coloboma, Microphthalmia OMIM:607932
Cancer-Associated Retinopathy
Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Foveal hyporeflective spa... ORPHA:71505
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Optic nerve hypoplasia, Upper eyelid entropion ORPHA:457284
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Male infertility ORPHA:2239
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Microphthalmia ORPHA:163966
Neu-Laxova Syndrome
Cataract, Abnormal nasolacrimal system morphology, Abnormal eyelid morphology, Abnormal eyelash m... ORPHA:2671
Mosaic Variegated Aneuploidy Syndrome
Epicanthus, Cataract, Corneal opacity, Abnormality of skin pigmentation, Multiple cafe-au-lait sp... ORPHA:1052
Fanconi Anemia, Complementation Group C
Microphthalmia, Epicanthus, Prolonged G2 phase of cell cycle, Cryptorchidism OMIM:227645
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Ectopic posterior pituitary, Anterior pituitary hypoplasia, Optic nerve hypoplasia, Decreased res... ORPHA:226307
Isolated Osteopoikilosis
Dacryocystitis ORPHA:166119
Holoprosencephaly 1
Microphthalmia, Cyclopia OMIM:236100
Fanconi Anemia, Complementation Group F
Microphthalmia, Patent ductus arteriosus, Cafe-au-lait spot, Hyperpigmentation of the skin OMIM:603467
Proteus Syndrome
Abnormality of retinal pigmentation, Central heterochromia, Generalized hyperpigmentation, Catara... ORPHA:744
Fanconi Anemia, Complementation Group E
Microphthalmia, Prolonged G2 phase of cell cycle, Cryptorchidism OMIM:600901
Cystinosis, Nephropathic
Hypopigmentation of the skin, Hypopigmentation of hair, Retinal pigment epithelial mottling, Pigm... OMIM:219800
Skin Creases, Congenital Symmetric Circumferential, 2
Epicanthus, Synophrys, Upslanted palpebral fissure, Microcornea, Blepharophimosis, Microphthalmia... OMIM:616734
22Q11.2 Deletion Syndrome
Telecanthus, Epicanthus, Aganglionic megacolon, Cataract, Abnormal eyelid morphology, Retinal art... ORPHA:567
Meckel Syndrome, Type 4
Microphthalmia, Bile duct proliferation OMIM:611134
Mosaic Trisomy 1
Congenital bilateral ptosis, Microphthalmia, Downslanted palpebral fissures, Opacification of the... ORPHA:1692
Fryns Syndrome
Corneal opacity, Hypospadias, Cryptorchidism, Bicornuate uterus, Microphthalmia ORPHA:2059
Cousin Syndrome
Microcornea, Narrow palpebral fissure, Blepharophimosis, Microphthalmia, Short palpebral fissure OMIM:260660
Ciliary Dyskinesia, Primary, 19
Male infertility OMIM:614935
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Male infertility OMIM:619607
Focal Dermal Hypoplasia
Linear hyperpigmentation, Anophthalmia, Ectopia lentis, Optic atrophy, Reticular hyperpigmentatio... OMIM:305600
Oculodentodigital Dysplasia
Epicanthus, Cataract, Microcornea, Blepharophimosis, Microphthalmia, Short palpebral fissure OMIM:164200
Adams-Oliver Syndrome
Microphthalmia, Cataract ORPHA:974
Fanconi Anemia, Complementation Group R
Microphthalmia OMIM:617244
Diaphragmatic Hernia 4, With Cardiovascular Defects
Cryptorchidism, Downslanted palpebral fissures, Optic nerve hypoplasia OMIM:620025
Heart And Brain Malformation Syndrome
Microphthalmia OMIM:616920
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Few cafe-au-lait spots, Epicanthus, Telecanthus, Optic nerve hypoplasia, Upslanted palpebral fiss... OMIM:620330
Limb-Mammary Syndrome
Absent lacrimal punctum, Absent nipple, Chronic irritative conjunctivitis, Sparse eyebrow, Lacrim... ORPHA:69085
Rubinstein-Taybi Syndrome 1
Broad eyebrow, Epicanthus, Cataract, Highly arched eyebrow, Bilateral cryptorchidism, Cryptorchid... OMIM:180849
Intellectual Developmental Disorder, X-Linked, Syndromic 33
Synophrys, Downslanted palpebral fissures, Nasolacrimal duct obstruction OMIM:300966
Bohring-Opitz Syndrome
Coloboma, Synophrys, Retinal atrophy, Optic atrophy ORPHA:97297
Rapp-Hodgkin Syndrome
Absent lacrimal punctum, Sparse eyelashes, Supernumerary nipple, Sparse eyebrow, Decreased number... OMIM:129400
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Absence of Stensen duct, Decreased response to growth hormone stimulation test, Sparse eyelashes,... OMIM:604292
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Telecanthus, Corneal opacity, Synophrys, Thin eyebrow, Microphthalmia, Cafe-au-lait spot, Short p... OMIM:608670
Atypical Werner Syndrome
Abnormality of retinal pigmentation, Patchy hypo- and hyperpigmentation, Developmental cataract, ... ORPHA:79474
Charge Syndrome
Anophthalmia, Cataract, Facial palsy, Patent ductus arteriosus, Unilateral microphthalmos, Colobo... OMIM:214800
Rhombencephalosynapsis
Septo-optic dysplasia, Aganglionic megacolon ORPHA:59315
Pearson Syndrome
Cataract, Corneal stromal edema, Pigmentary retinopathy, Cafe-au-lait spot, Hyperpigmentation of ... ORPHA:699
Combined Pituitary Hormone Deficiencies, Genetic Forms
Septo-optic dysplasia, Ectopic posterior pituitary, Ectopic anterior pituitary gland, Anterior pi... ORPHA:95494
Chromosome 16P13.3 Duplication Syndrome
Epicanthus, Cryptorchidism, Synophrys, Nasolacrimal duct obstruction, Upslanted palpebral fissure... OMIM:613458
Myoectodermal Gonadal Dysgenesis Syndrome
Epicanthus, Elevated circulating luteinizing hormone level, Highly arched eyebrow, Sparse eyebrow... OMIM:618419
Microcephaly-Micromelia Syndrome
Microphthalmia, Short palpebral fissure OMIM:251230
Galloway-Mowat Syndrome 3
Microphthalmia, Epicanthus, Downslanted palpebral fissures OMIM:617729
Fanconi Anemia, Complementation Group D2
Cryptorchidism, Prolonged G2 phase of cell cycle, Blepharophimosis, Microphthalmia, Annular pancreas OMIM:227646
Teebi-Shaltout Syndrome
Microphthalmia, Telecanthus, Highly arched eyebrow, Ptosis OMIM:272950
Monosomy 9P
Epicanthus, Highly arched eyebrow, Synophrys, Upslanted palpebral fissure, Blepharophimosis, Micr... ORPHA:261112
Hallermann-Streiff Syndrome
Telecanthus, Sparse eyelashes, Sparse eyebrow, Developmental cataract, Microphthalmia ORPHA:2108
Ciliary Dyskinesia, Primary, 1
Male infertility, Abnormal cornea morphology OMIM:244400
Aprosencephaly And Cerebellar Dysgenesis
Retinal dysplasia OMIM:601374
Meckel Syndrome, Type 1
Patent ductus arteriosus, Microphthalmia, Epicanthus inversus, Iris coloboma, Ptosis OMIM:249000
Microphthalmia With Limb Anomalies
Abnormal eyebrow morphology, Cryptorchidism, Optic atrophy, Blepharophimosis, Microphthalmia, Tru... ORPHA:1106
Roberts-Sc Phocomelia Syndrome
Cataract, Corneal opacity, Patent ductus arteriosus, Coloboma, Eyelid coloboma, Opacification of ... OMIM:268300
Townes-Brocks Syndrome
Cataract, Blepharophimosis, Patent ductus arteriosus, Chorioretinal coloboma, Limbal dermoid, Mic... ORPHA:857
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Absent eyebrow, Aganglionic megacolon, Corneal opacity, Abnormal nasolacrimal system morphology, ... ORPHA:2273
Fraser Syndrome 1
Absent eyebrow, Anophthalmia, Corneal opacity, Absent eyelashes, Cryptorchidism, Bilateral microp... OMIM:219000
Lipodystrophy, Familial Partial, Type 7
Pigmentary retinopathy, Cataract, Developmental cataract OMIM:606721
Baller-Gerold Syndrome
Epicanthus, Optic nerve hypoplasia, Optic atrophy, Astigmatism, Downslanted palpebral fissures OMIM:218600
Oculocerebrorenal Syndrome Of Lowe
Cataract, Corneal opacity, Chorioretinal dysplasia, Abnormal pupil morphology, Upslanted palpebra... ORPHA:534
Gabriele-De Vries Syndrome
Telecanthus, Lacrimal duct stenosis, Decreased response to growth hormone stimulation test, Spars... ORPHA:506358
Tetraamelia Syndrome 1
Cataract, Hypoplasia of the fallopian tube, Absent external genitalia, Microphthalmia, Vaginal at... OMIM:273395
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Epicanthus, Optic nerve hypoplasia, Sparse eyebrow, Patent ductus arteriosus after birth at term,... ORPHA:500150
Meckel Syndrome 14
Ambiguous genitalia, Microphthalmia, Aplasia of the uterus OMIM:619879
Chilton-Okur-Chung Neurodevelopmental Syndrome
Septo-optic dysplasia, Hooded eyelid, Highly arched eyebrow, Sparse eyebrow, Bilateral ptosis, Sy... OMIM:619841
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Blepharophimosis, Microphthalmia, Patent ductus arteriosus, Cataract OMIM:620005
Microphthalmia, Syndromic 1
Anophthalmia, Aganglionic megacolon, Optic disc coloboma, Microcornea, Ciliary body coloboma, Cho... OMIM:309800
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Cataract, Highly arched eyebrow, Trichiasis, Cryptorchidism, Nasolacrimal duct obstruction, Corne... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Cataract, Highly arched eyebrow, Trichiasis, Cryptorchidism, Nasolacrimal duct obstruction, Corne... ORPHA:353277
Fanconi Anemia, Complementation Group L
Upslanted palpebral fissure, Microphthalmia, Cafe-au-lait spot OMIM:614083
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Sparse eyebrow, Microphthalmia, Patent ductus arteriosus OMIM:616300
Tolchin-Le Caignec Syndrome
Thick eyebrow, Hooded eyelid, Nasolacrimal duct obstruction, Short palpebral fissure OMIM:618971
Myhre Syndrome
Cataract, Patent ductus arteriosus, Narrow palpebral fissure, Blepharophimosis, Microphthalmia, T... OMIM:139210
Hereditary Amyloidosis With Primary Renal Involvement
Male infertility, Primary testicular failure, Oligozoospermia, Hypogonadism, Abnormal testis morp... ORPHA:85450
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Epicanthus, Cataract, Sutural cataract, Highly arched eyebrow, Synophrys, Patent ductus arteriosu... OMIM:612474
Carpenter Syndrome 2
Epicanthus, Highly arched eyebrow, Supernumerary nipple, Bilateral cryptorchidism, Cryptorchidism... OMIM:614976
Diarrhea 10, Protein-Losing Enteropathy Type
Coloboma OMIM:618183
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Telecanthus, Absence of Stensen duct, Decreased response to growth hormone stimulation test, Spar... OMIM:129900
Pallister-Hall Syndrome
Precocious puberty, Cryptorchidism, Microphthalmia, Micropenis, Decreased testicular size OMIM:146510
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Epicanthus, Cryptorchidism, Antecubital pterygium, Popliteal pterygium, Blepharophimosis, Microph... OMIM:609945
Fryns Syndrome
Ectopic pancreatic tissue, Aganglionic megacolon, Cryptorchidism, Narrow palpebral fissure, Opaci... OMIM:229850
Roberts Syndrome
Cataract, Cryptorchidism, Long penis, Microphthalmia, Clitoral hypertrophy ORPHA:3103
Isolated Arrhinia
Microphthalmia, Eyelid coloboma ORPHA:1134
Microphthalmia, Syndromic 9
Blepharophimosis, Patent ductus arteriosus, Anophthalmia, Bilateral microphthalmos OMIM:601186
Johanson-Blizzard Syndrome
Absent lacrimal punctum ORPHA:2315
Turner Syndrome Due To Structural X Chromosome Anomalies
Premature ovarian insufficiency, Female infertility, Neck pterygia, Secondary amenorrhea, Primary... ORPHA:99413
Mosaic Monosomy X
Premature ovarian insufficiency, Female infertility, Neck pterygia, Secondary amenorrhea, Primary... ORPHA:99228
Monosomy X
Premature ovarian insufficiency, Female infertility, Neck pterygia, Secondary amenorrhea, Primary... ORPHA:99226
Turner Syndrome
Premature ovarian insufficiency, Female infertility, Neck pterygia, Secondary amenorrhea, Primary... ORPHA:881
Witteveen-Kolk Syndrome
Medial flaring of the eyebrow, Epicanthus, Cataract, Anisocoria, Shallow orbits, Microphthalmia, ... OMIM:613406
Degcags Syndrome
Abnormal eyebrow morphology, Hypopigmentation of hair, Abnormal eyelash morphology, Synophrys, Pa... OMIM:619488
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Absent lacrimal punctum, Sparse eyelashes, Supernumerary nipple, Sparse eyebrow, Ankyloblepharon ORPHA:1071
Fraser Syndrome 2
Microphthalmia, Hypoplasia of the thymus, Cryptophthalmos OMIM:617666
Lenz-Majewski Hyperostotic Dwarfism
Cryptorchidism, Abnormal nasolacrimal system morphology, Facial palsy ORPHA:2658
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Iris atrophy, Telecanthus, Epicanthus, Aganglionic megacolon, Cataract, Highly arched eyebrow, Pa... ORPHA:261552
Proximal Renal Tubular Acidosis
Coloboma, Cataract, Band keratopathy ORPHA:47159
Hardikar Syndrome
Pigmentary retinopathy OMIM:301068
Lenz-Majewski Hyperostotic Dwarfism
Cryptorchidism, Lacrimal duct stenosis, Anterior pituitary hypoplasia OMIM:151050
Fraser Syndrome
Hypoplasia of penis, Anophthalmia, Small scrotum, Hypospadias, Cryptorchidism, Bicornuate uterus,... ORPHA:2052
Catel-Manzke Syndrome
Upslanted palpebral fissure, Cryptorchidism, Nasolacrimal duct obstruction, Thin eyebrow OMIM:616145
Nocardiosis
Keratitis, Chorioretinitis, Conjunctivitis, Dacryocystitis ORPHA:31204
Wiedemann-Rautenstrauch Syndrome
Cataract, Corneal opacity, Optic disc hypoplasia, Optic atrophy, Pigmentary retinopathy ORPHA:3455
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Thyroid dysgenesis, Abnormal nasolacrimal system morphology, Cryptorchidism, Ectopic thyroid, Ble... ORPHA:3047
Yunis-Varon Syndrome
Cataract, Hypospadias, Sclerocornea, Cryptorchidism, Bilateral microphthalmos, Hypoplastic labia ... ORPHA:3472
Neu-Laxova Syndrome 1
Ablepharon, Cataract, Absent eyelashes, Patent ductus arteriosus, Microphthalmia, Pterygium OMIM:256520
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Microphthalmia, Micropenis, Uterus didelphys, Septate vagina OMIM:617925
Microgastria-Limb Reduction Defect Syndrome
Microphthalmia, Anophthalmia, Rectovaginal fistula, Perineal fistula ORPHA:2538
Lowe Oculocerebrorenal Syndrome
Cryptorchidism, Corneal scarring, Developmental cataract, Microphthalmia, Dense posterior cortica... OMIM:309000
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Telecanthus, Cataract, Aganglionic megacolon, Astigmatism, Retinal coloboma, Axenfeld anomaly, Mi... ORPHA:261537
Mowat-Wilson Syndrome
Telecanthus, Cataract, Aganglionic megacolon, Patent ductus arteriosus, Astigmatism, Retinal colo... ORPHA:2152
Saethre-Chotzen Syndrome
Buphthalmos, Ptosis, Abnormal nasolacrimal system morphology, Shallow orbits OMIM:101400
Malt Lymphoma
Abnormal nasolacrimal system morphology ORPHA:52417
Pallister-Hall Syndrome
Small scrotum, Hypospadias, Precocious puberty, Cryptorchidism, Hydrometrocolpos, Aplasia/Hypopla... ORPHA:672
Adams-Oliver Syndrome 1
Microphthalmia, Supernumerary nipple OMIM:100300
Igg4-Related Kidney Disease
Dacryocystitis, Sialadenitis, Abnormality of the anterior pituitary ORPHA:449395
Hydrolethalus Syndrome 1
Microphthalmia, Abnormal vagina morphology, Hypospadias, Bifid uterus OMIM:236680
Craniofacial Microsomia 1
Anophthalmia, Blepharophimosis, Patent ductus arteriosus, Upper eyelid coloboma, Limbal dermoid, ... OMIM:164210
Vascular Ehlers-Danlos Syndrome
Keratoconus, Telecanthus, Hypoplastic lacrimal duct, Epicanthus, Abnormal eyelash morphology, Cry... ORPHA:286
Johanson-Blizzard Syndrome
Absent lacrimal punctum, Conjunctival icterus, Cryptorchidism, Upslanted palpebral fissure, Hypop... OMIM:243800
Leukocyte Adhesion Deficiency
Conjunctivitis, Nasolacrimal sac granuloma ORPHA:2968

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Vsx2

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Vsx2.

No publications found that use IMPC mice or data for Vsx2.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Vsx2tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Vsx2tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Vsx2tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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