Cataract 4, Multiple Types |
|
Developmental cataract |
OMIM:115700 |
Cataract 13 With Adult I Phenotype |
|
Developmental cataract |
OMIM:116700 |
Cataract 37 |
|
Developmental cataract |
OMIM:614422 |
Cataract 45 |
|
Developmental cataract |
OMIM:616851 |
Cataract 38 |
|
Developmental cataract |
OMIM:614691 |
Ectopia Lentis 2, Isolated, Autosomal Recessive |
|
Ectopia lentis |
OMIM:225100 |
Ectopia Lentis 1, Isolated, Autosomal Dominant |
|
Ectopia lentis |
OMIM:129600 |
Hereditary Hyperferritinemia-Cataract Syndrome |
|
Cataract |
ORPHA:163 |
Cataract 29 |
|
Cataract |
OMIM:115800 |
Cataract 35 |
|
Cataract |
OMIM:609376 |
Cataract 36 |
|
Cataract |
OMIM:613887 |
Hypertrophic Neuropathy And Cataract |
|
Cataract |
OMIM:239900 |
Cataract 8, Multiple Types |
|
Nuclear cataract, Developmental cataract |
OMIM:115665 |
Cataract 44 |
|
Developmental cataract |
OMIM:616509 |
Cataract 22, Multiple Types |
|
Nuclear cataract, Developmental cataract |
OMIM:609741 |
Cataract And Congenital Ichthyosis |
|
Cataract |
OMIM:212400 |
Cochleosaccular Degeneration With Progressive Cataracts |
|
Progressive cataract |
OMIM:120040 |
Hyperferritinemia With Or Without Cataract |
|
Nuclear cataract, Pulverulent cataract |
OMIM:600886 |
Cataract 10, Multiple Types |
|
Nuclear cataract, Zonular cataract, Posterior Y-sutural cataract, Developmental cataract |
OMIM:600881 |
Cataract 14, Multiple Types |
|
Zonular cataract |
OMIM:601885 |
Cataract 1, Multiple Types |
|
Microcornea, Posterior subcapsular cataract, Nuclear cataract, Pulverulent cataract |
OMIM:116200 |
Glaucoma-Ectopia Lentis-Microspherophakia-Stiff Joints-Short Stature Syndrome |
|
Ectopia lentis |
ORPHA:2084 |
Cataract 17, Multiple Types |
|
Microcornea, Nuclear cataract, Pulverulent cataract, Developmental cataract |
OMIM:611544 |
Cataract, Age-Related Nuclear |
|
Nuclear cataract |
OMIM:601371 |
Cataract 18 |
|
Nuclear cataract |
OMIM:610019 |
Cataract 41 |
|
Nuclear cataract |
OMIM:116400 |
Cataract 2, Multiple Types |
|
Aculeiform cataract, Nuclear pulverulent cataract, Developmental cataract, Microcornea, Nuclear c... |
OMIM:604307 |
Cataract 7 |
|
Developmental cataract |
OMIM:115660 |
Cataract 19, Multiple Types |
|
Cortical pulverulent cataract |
OMIM:615277 |
Microphthalmia, Isolated, With Cataract 1 |
|
Microphthalmia, Cataract |
OMIM:156850 |
Hydrocephaly-Cerebellar Agenesis Syndrome |
|
Cataract |
ORPHA:1397 |
Cataract 12, Multiple Types |
|
Progressive cataract, Developmental cataract |
OMIM:611597 |
Aldh18A1-Related De Barsy Syndrome |
|
Cataract |
ORPHA:35664 |
Trichomegaly |
|
Cataract |
OMIM:190330 |
Cataract 42 |
|
Cataract, Developmental cataract |
OMIM:115900 |
Anterior Segment Dysgenesis 8 |
|
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Hypoplasia of the iris, Iris transillumi... |
OMIM:617319 |
Cataract 3, Multiple Types |
|
Nuclear pulverulent cataract, Sutural cataract, Cerulean cataract, Developmental cataract |
OMIM:601547 |
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome |
|
Cataract |
ORPHA:73245 |
Cataract 5, Multiple Types |
|
Pulverulent cataract, Nuclear cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract |
OMIM:116800 |
Microphthalmia, Isolated, With Coloboma 3 |
|
Microphthalmia, Cataract, Iris coloboma |
OMIM:610092 |
Foveal Hypoplasia 1 |
|
Hypoplasia of the fovea, Presenile cataracts |
OMIM:136520 |
Corneal Dystrophy, Groenouw Type I |
|
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy |
OMIM:121900 |
Cataract 40 |
|
Nuclear cataract, Sutural cataract |
OMIM:302200 |
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy |
|
Juvenile cataract |
OMIM:212500 |
Microphthalmia, Isolated, With Coloboma 4 |
|
Microcornea, Microphthalmia, Coloboma |
OMIM:251505 |
Nathalie Syndrome |
|
Cataract |
ORPHA:2663 |
Galactosemia Iv |
|
Cataract |
OMIM:618881 |
X-Linked Endothelial Corneal Dystrophy |
|
Abnormal corneal endothelium morphology, Nuclear cataract, Corneal opacity, Band keratopathy |
ORPHA:293621 |
Cataract 15, Multiple Types |
|
Lamellar cataract, Nuclear cataract, Cortical cataract |
OMIM:615274 |
Cataract 33, Multiple Types |
|
Lamellar cataract, Nuclear cataract, Cortical cataract |
OMIM:611391 |
Cataract 30, Multiple Types |
|
Posterior polar cataract, Diffuse nuclear cataract, Pulverulent cataract |
OMIM:116300 |
Pupillary Membrane, Persistence Of |
|
Developmental cataract, Megalocornea, Persistent pupillary membrane |
OMIM:178900 |
Congenital Primary Aphakia |
|
Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia,... |
ORPHA:83461 |
Cataract-Ataxia-Deafness-Retardation Syndrome |
|
Developmental cataract |
OMIM:212710 |
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities |
|
Cataract |
OMIM:300719 |
Uncombable Hair Syndrome 2 |
|
Juvenile cataract |
OMIM:617251 |
Cataract 21, Multiple Types |
|
Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent cataract, Macular hypoplasi... |
OMIM:610202 |
Cataract 11, Multiple Types |
|
Microphthalmia, Cataract, Developmental cataract |
OMIM:610623 |
Cataract 31, Multiple Types |
|
Posterior subcapsular cataract, Anterior subcapsular cataract, Nuclear cataract |
OMIM:605387 |
Foveal Hypoplasia-Presenile Cataract Syndrome |
|
Cataract, Optic atrophy |
ORPHA:2253 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 3 |
|
Cataract |
ORPHA:79281 |
Chorea, Remitting, With Nystagmus And Cataract |
|
Cataract |
OMIM:601372 |
Corneal Dystrophy, Lisch Epithelial |
|
Corneal dystrophy |
OMIM:300778 |
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness |
|
Cataract, Chorioretinal coloboma |
OMIM:274205 |
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay |
|
Cataract, Developmental cataract |
OMIM:613076 |
X-Linked Retinoschisis |
|
Cataract |
ORPHA:792 |
Galactosemia Ii |
|
Cataract |
OMIM:230200 |
Cataract 20, Multiple Types |
|
Lamellar cataract, Membranous cataract, Sutural cataract, Cortical cataract |
OMIM:116100 |
Cataract 9, Multiple Types |
|
Progressive cataract, Cataract, Developmental cataract, Microcornea, Microphthalmia, Iris coloboma |
OMIM:604219 |
Cataract 39, Multiple Types |
|
Lamellar cataract, Anterior polar cataract, Developmental cataract |
OMIM:615188 |
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract |
|
Microcornea, Cataract, Aniridia |
OMIM:106230 |
Iris Pigment Layer, Cleavage Of |
|
Cataract, Peripheral retinal detachment |
OMIM:147610 |
Microphthalmia, Isolated, With Coloboma 7 |
|
Microphthalmia, Iris coloboma, Inferior chorioretinal coloboma |
OMIM:614497 |
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism |
|
Cataract |
OMIM:254000 |
Neutropenia, Severe Congenital, 9, Autosomal Dominant |
|
Cataract |
OMIM:619813 |
Cataract-Microcornea Syndrome |
|
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma |
ORPHA:1377 |
Spinocerebellar Degeneration With Macular Corneal Dystrophy, Congenital Cataracts, And Myopia |
|
Corneal dystrophy, Developmental cataract |
OMIM:271320 |
Blindness-Scoliosis-Arachnodactyly Syndrome |
|
Cataract, Lens subluxation, Microphakia |
ORPHA:171844 |
Hypoalphalipoproteinemia, Primary, 2 |
|
Corneal arcus, Cataract |
OMIM:618463 |
Glaucoma 3, Primary Congenital, D |
|
Corneal opacity, Primary congenital glaucoma, Ectopia lentis |
OMIM:613086 |
Microphthalmia, Isolated, With Coloboma 10 |
|
Anophthalmia, Chorioretinal coloboma, Microphthalmia, Microcoria, Iris coloboma |
OMIM:616428 |
Spinocerebellar Ataxia, Autosomal Recessive 24 |
|
Cataract |
OMIM:617133 |
Spastic Paraparesis And Deafness |
|
Cataract |
OMIM:312910 |
Anterior Segment Dysgenesis 2 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber... |
OMIM:610256 |
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Remnants of the hyaloid vascular system, Microcornea, Posterior lenticonus, Chorioretinal colobom... |
ORPHA:231736 |
Optic Atrophy 3, Autosomal Dominant |
|
Optic disc pallor, Cataract, Optic atrophy |
OMIM:165300 |
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome |
|
Aplasia/Hypoplasia of the lens, Cataract |
ORPHA:1381 |
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Microphthalmia, Cataract, Iris coloboma, Chorioretinal coloboma |
OMIM:120433 |
Microphthalmia, Isolated 2 |
|
Microphthalmia, Opacification of the corneal stroma |
OMIM:610093 |
Cataract 47 |
|
Microcornea, Cataract |
OMIM:612018 |
Aniridia-Intellectual Disability Syndrome |
|
Aniridia, Cataract, Optic nerve hypoplasia, Ectopia lentis |
ORPHA:1068 |
Congenital Varicella Syndrome |
|
Microphthalmia, Cataract |
ORPHA:291 |
Cataract 50 With Or Without Glaucoma |
|
Retinal detachment, Cataract, Persistent pupillary membrane |
OMIM:620253 |
Nathalie Syndrome |
|
Cataract |
OMIM:255990 |
Cortical Dysplasia, Complex, With Other Brain Malformations 4 |
|
Cataract |
OMIM:615412 |
Nanophthalmos 1 |
|
Bilateral microphthalmos |
OMIM:600165 |
Hemolytic Anemia Due To Glutathione Reductase Deficiency |
|
Cataract |
OMIM:618660 |
Microphthalmia, Isolated 7 |
|
Microphthalmia |
OMIM:613704 |
Nanophthalmos 2 |
|
Microphthalmia |
OMIM:609549 |
Cataract-Nephropathy-Encephalopathy Syndrome |
|
Cataract |
ORPHA:1380 |
Proximal Myotonic Myopathy |
|
Cataract |
ORPHA:606 |
Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Microcornea, Microphthalmia, Corneal opacity |
ORPHA:2432 |
Hypomyelination-Congenital Cataract Syndrome |
|
Developmental cataract |
ORPHA:85163 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Chorioretinal coloboma, Microphthal... |
ORPHA:1473 |
Myopia 17, Autosomal Dominant |
|
Presenile cataracts |
OMIM:608367 |
Microphthalmia, Isolated, With Coloboma 5 |
|
Anophthalmia, Bilateral microphthalmos, Chorioretinal coloboma, Microphthalmia, Iris coloboma |
OMIM:611638 |
Cahmr Syndrome |
|
Lamellar cataract |
OMIM:211770 |
Dysequilibrium Syndrome |
|
Cataract |
ORPHA:1766 |
Optic Atrophy 10 With Or Without Ataxia, Impaired Intellectual Development, And Seizures |
|
Cerulean cataract |
OMIM:616732 |
Cataract 23, Multiple Types |
|
Lamellar cataract |
OMIM:610425 |
Microphthalmia, Isolated 5 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Retinal pigment epithelial ... |
OMIM:611040 |
Cataract-Deafness-Hypogonadism Syndrome |
|
Developmental cataract |
ORPHA:1383 |
Weill-Marchesani Syndrome 3 |
|
Shallow anterior chamber, Microspherophakia, Ectopia lentis |
OMIM:614819 |
Xeroderma Pigmentosum, Complementation Group G |
|
Microphthalmia, Cataract |
OMIM:278780 |
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Developmental cataract, Coloboma, Retinal dysplasia, Microphthalmia, Ocular anterior segment dysg... |
ORPHA:324416 |
Coats Disease |
|
Aplasia/Hypoplasia of the iris, Retinal detachment, Cataract, Abnormal anterior chamber morphology |
ORPHA:190 |
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma |
|
Iridodonesis, Ectopia lentis, Microspherophakia, Deep anterior chamber, Buphthalmos, Megalocornea |
OMIM:251750 |
Isolated Aniridia |
|
Aniridia, Cataract, Aplasia/Hypoplasia of the macula, Peters anomaly |
ORPHA:250923 |
Aniridia 2 |
|
Cataract, Optic atrophy, Lens subluxation, Aniridia, Iris coloboma |
OMIM:617141 |
Foveal Hypoplasia 2 |
|
Hypoplasia of the fovea, Astigmatism, Axenfeld anomaly, Microphthalmia, Posterior embryotoxon |
OMIM:609218 |
Corneal Dystrophy, Posterior Polymorphous, 2 |
|
Corneal opacity, Corneal dystrophy |
OMIM:609140 |
Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Microcornea, Microphthalmia, Cataract |
ORPHA:2528 |
Bardet-Biedl Syndrome 18 |
|
Cataract |
OMIM:615995 |
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 37 |
|
Posterior subcapsular cataract, Nuclear cataract |
OMIM:611131 |
Cataract-Hypertrichosis-Intellectual Disability Syndrome |
|
Developmental cataract |
ORPHA:1375 |
Retinitis Pigmentosa 40 |
|
Bone spicule pigmentation of the retina, Cataract |
OMIM:613801 |
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1 |
|
Microcornea, Cataract |
OMIM:619082 |
Myopia 28, Autosomal Recessive |
|
Retinal detachment, Cataract |
OMIM:619781 |
Anterior Segment Dysgenesis 7 |
|
Cataract, Corneal opacity, Sclerocornea, Buphthalmos, Microcornea, Anterior synechiae of the ante... |
OMIM:269400 |
Retinitis Pigmentosa 56 |
|
Posterior subcapsular cataract, Nuclear cataract |
OMIM:613581 |
Congenital Microcoria |
|
Developmental cataract, Corneal stromal edema, Iris transillumination defect, Nuclear cataract, A... |
ORPHA:566 |
Leg, Absence Deformity Of, With Congenital Cataract |
|
Progressive cataract, Optic nerve dysplasia, Developmental cataract |
OMIM:246000 |
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Coloboma, Peters anomaly, Microphthalmia, Ocular anterior segment dysgenesis, Iris coloboma |
OMIM:610023 |
Aniridia 3 |
|
Aniridia, Cataract |
OMIM:617142 |
Spastic Paraparesis-Deafness Syndrome |
|
Cataract |
ORPHA:2815 |
Aniridia And Absent Patella |
|
Aniridia, Cataract |
OMIM:106220 |
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Retinal detachment, Cataract, Macular atrophy, Corneal scarring, Buphthalmos, Chorioretinal colob... |
OMIM:212550 |
Retinal Dystrophy With Or Without Macular Staphyloma |
|
Posterior subcapsular cataract, Nuclear cataract |
OMIM:617547 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Microphthalmia, Cataract, Retinal coloboma |
OMIM:601794 |
Microphthalmia, Isolated 6 |
|
Microcornea, Microphthalmia |
OMIM:613517 |
Microphthalmia, Syndromic 16 |
|
Microphthalmia, Anophthalmia, Sclerocornea |
OMIM:611038 |
Autosomal Dominant Keratitis |
|
Hypoplasia of the fovea, Cataract, Keratitis, Bilateral microphthalmos, Abnormal corneal limbus m... |
ORPHA:2334 |
Cataract 49 |
|
Posterior cortical cataract |
OMIM:619593 |
Megalocornea |
|
Iridodonesis, Retinal detachment, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris... |
OMIM:309300 |
Leber Congenital Amaurosis 7 |
|
Keratoconus, Cataract |
OMIM:613829 |
Central Cloudy Dystrophy Of Francois |
|
Central corneal dystrophy, Corneal dystrophy |
OMIM:217600 |
Schnyder Corneal Dystrophy |
|
Corneal dystrophy, Crystalline corneal dystrophy |
OMIM:121800 |
Leukoencephalopathy With Vanishing White Matter 2 |
|
Cataract, Optic atrophy |
OMIM:620312 |
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Microphthalmia, Cataract, Retinal coloboma |
ORPHA:363741 |
Exudative Vitreoretinopathy 6 |
|
Nuclear cataract, Cataract, Cortical cataract |
OMIM:616468 |
Corneal Dystrophy, Endothelial, X-Linked |
|
Corneal opacity, Corneal dystrophy, Band keratopathy |
OMIM:300779 |
Pellagra-Like Syndrome |
|
Cataract |
OMIM:260650 |
Thanatophoric Dysplasia, Glasgow Variant |
|
Cataract |
OMIM:273680 |
Glaucoma 3, Primary Infantile, B |
|
Primary congenital glaucoma |
OMIM:600975 |
Uveal Melanoma |
|
Iris melanoma, Inferior lens subluxation, Zonular cataract, Ciliary body melanoma, Mydriasis |
ORPHA:39044 |
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome |
|
Cataract |
ORPHA:2278 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Retinal detachment, Abnormality of retinal pigmentation, Cataract, Optic disc pallor, Microphthalmia |
OMIM:251270 |
Anterior Segment Dysgenesis 5 |
|
Hypoplasia of the fovea, Rieger anomaly, Sclerocornea, Developmental cataract, Hypoplasia of the ... |
OMIM:604229 |
Retinitis Pigmentosa 9 |
|
Bone spicule pigmentation of the retina, Cataract, Macular atrophy |
OMIM:180104 |
Exfoliation Syndrome |
|
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab... |
OMIM:177650 |
Dermoids Of Cornea |
|
Corneal opacity |
OMIM:304730 |
Myopia, High, With Cataract And Vitreoretinal Degeneration |
|
Retinal detachment, Cataract, Lens subluxation, Lattice retinal degeneration |
OMIM:614292 |
Peroxisome Biogenesis Disorder 10A (Zellweger) |
|
Cataract |
OMIM:614882 |
Blepharoptosis, Myopia, And Ectopia Lentis |
|
Increased axial length of the globe, Ectopia lentis |
OMIM:110150 |
Microphthalmia, Syndromic 13 |
|
Microcornea, Microphthalmia, Iris coloboma, Chorioretinal coloboma |
OMIM:300915 |
Stickler Syndrome Type 2 |
|
Retinal detachment, Cataract, Corneal opacity |
ORPHA:90654 |
Dermochondrocorneal Dystrophy |
|
Subepithelial corneal opacities, Corneal dystrophy, Anterior cortical cataract |
OMIM:221800 |
Wagner Vitreoretinopathy |
|
Peripheral tractional retinal detachment, Cataract, Optic atrophy, Retinal pigment epithelial atr... |
OMIM:143200 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Optic disc pallor, Cataract, Macular atrophy, Optic atrophy, Microcornea, Microphthalmia |
OMIM:616171 |
Cochleosaccular Degeneration-Cataract Syndrome |
|
Cataract |
ORPHA:3233 |
Retinitis Pigmentosa 84 |
|
Macular atrophy, Bone spicule pigmentation of the retina, Cataract, Macular coloboma |
OMIM:618220 |
Autosomal Recessive Spastic Paraplegia Type 69 |
|
Cataract |
ORPHA:401830 |
Galactokinase Deficiency |
|
Nuclear cataract, Cataract |
ORPHA:79237 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane |
ORPHA:1067 |
Cornea Plana 2, Autosomal Recessive |
|
Flat cornea, Corneal opacity, Sclerocornea, Corneal arcus, Decreased corneal thickness, Microphth... |
OMIM:217300 |
Vitreoretinal Degeneration, Snowflake Type |
|
Retinal detachment, Snowflake vitreoretinal degeneration, Cataract, Corneal guttata |
OMIM:193230 |
Cataract 48 |
|
Cataract |
OMIM:618415 |
Hypogonadism-Cataract Syndrome |
|
Cataract |
OMIM:240950 |
2Q24 Microdeletion Syndrome |
|
Microphthalmia, Cataract, Abnormality iris morphology, Coloboma |
ORPHA:1617 |
Anterior Segment Dysgenesis 3 |
|
Rieger anomaly, Ectopia pupillae, Hypoplastic iris stroma, Axenfeld anomaly, Peters anomaly, Post... |
OMIM:601631 |
Leber Congenital Amaurosis 6 |
|
Keratoconus, Cataract |
OMIM:613826 |
Ectopia Lentis Et Pupillae |
|
Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Persistent pupillary m... |
OMIM:225200 |
Microphthalmia, Isolated, With Coloboma 6 |
|
Hypoplasia of the fovea, Coloboma, Bilateral microphthalmos, Optic disc hypoplasia |
OMIM:613703 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3 |
|
Cataract |
OMIM:609115 |
Oculoauricular Syndrome |
|
Cataract, Sclerocornea, Phthisis bulbi, Developmental cataract, Microcornea, Iris cyst, Posterior... |
OMIM:612109 |
Peters Anomaly |
|
Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c... |
ORPHA:708 |
Spondylo-Ocular Syndrome |
|
Cataract, Microphthalmia, Aplasia/Hypoplasia of the lens, Iris hypopigmentation |
ORPHA:85194 |
Norrie Disease |
|
Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Leukocoria, Hypoplasia of the iris,... |
OMIM:310600 |
Insulinomatosis And Diabetes Mellitus |
|
Developmental glaucoma, Developmental cataract |
OMIM:147630 |
Retinitis Pigmentosa 4 |
|
Pigmentary retinopathy, Bone spicule pigmentation of the retina, Cataract, Retinal atrophy |
OMIM:613731 |
Anterior Segment Dysgenesis 1 |
|
Microcornea, Opacification of the corneal stroma, Peters anomaly, Posterior polar cataract, Ocula... |
OMIM:107250 |
Morning Glory Disc Anomaly |
|
Retinal detachment, Optic disc coloboma, Cataract, Abnormality of retinal pigmentation |
ORPHA:35737 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type |
|
Cataract |
OMIM:300261 |
Kyrle Disease |
|
Posterior subcapsular cataract |
OMIM:149500 |
Cataract 43 |
|
Posterior subcapsular cataract |
OMIM:616279 |
Cornea Guttata With Anterior Polar Cataracts |
|
Anterior polar cataract |
OMIM:121390 |
Coloboma, Ocular, Autosomal Dominant |
|
Optic nerve aplasia, Corneal opacity, Remnants of the hyaloid vascular system, Optic disc colobom... |
OMIM:120200 |
Persistent Hyperplastic Primary Vitreous |
|
Glial remnants anterior to the optic disc, Cataract, Corneal opacity, Hyaloid vascular remnant an... |
ORPHA:91495 |
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:85275 |
Leber Congenital Amaurosis 16 |
|
Optic disc pallor, Cataract |
OMIM:614186 |
Absence Deformity Of Leg-Cataract Syndrome |
|
Cataract |
ORPHA:2310 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Microphthalmia, Cataract, Optic disc pallor |
OMIM:613730 |
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome |
|
Nuclear cataract |
ORPHA:2848 |
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts |
|
Cataract |
OMIM:183800 |
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome |
|
Cataract, Corneal dystrophy |
ORPHA:1369 |
Microphthalmia, Isolated, With Corectopia |
|
Microphthalmia, Ectopia pupillae |
OMIM:156900 |
Cofs Syndrome |
|
Optic atrophy, Microphthalmia, Cataract, Abnormality of retinal pigmentation |
ORPHA:1466 |
Oculopalatocerebral Syndrome |
|
Microphthalmia, Remnants of the hyaloid vascular system, Leukocoria |
OMIM:257910 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Cataract, Corneal opacity, Remnants of the hyaloid vascular system, Phthisis bulbi, Leukocoria, B... |
OMIM:221900 |
Upper Limb Defect-Eye And Ear Abnormalities Syndrome |
|
Cataract, Chorioretinal coloboma |
ORPHA:2489 |
X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Cataract |
ORPHA:85288 |
Cataract 6, Multiple Types |
|
Posterior polar cataract, Developmental cataract |
OMIM:116600 |
Morm Syndrome |
|
Cataract, Retinal atrophy |
ORPHA:75858 |
Nance-Horan Syndrome |
|
Microcornea, Microphthalmia, Retinal detachment, Cataract |
ORPHA:627 |
Cone-Rod Dystrophy 16 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Macular atrophy |
OMIM:614500 |
Stickler Syndrome, Type V |
|
Retinal detachment, Cataract |
OMIM:614284 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Retinal detachment, Microphthalmia, Cataract, Optic nerve hypoplasia |
OMIM:615181 |
Kahrizi Syndrome |
|
Cataract, Iris coloboma |
OMIM:612713 |
Cataract 24 |
|
Anterior polar cataract |
OMIM:601202 |
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome |
|
Cataract |
OMIM:610156 |
Edict Syndrome |
|
Keratoconus, Microcornea, Hypoplasia of the iris, Astigmatism, Anterior polar cataract |
OMIM:614303 |
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
Microphthalmia, Retinal degeneration |
OMIM:251700 |
Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Cataract |
OMIM:614876 |
Bilateral Acute Depigmentation Of The Iris |
|
Iris pigment dispersion, Abnormal corneal endothelium morphology, Abnormal iris pigmentation, Pig... |
ORPHA:69736 |
Retinitis Pigmentosa 86 |
|
Cortical cataract |
OMIM:618613 |
Lissencephaly 8 |
|
Microphthalmia, Cataract, Optic atrophy |
OMIM:617255 |
Cataract-Aberrant Oral Frenula-Growth Delay Syndrome |
|
Cataract |
ORPHA:1373 |
Microphthalmia, Syndromic 5 |
|
Anophthalmia, Cataract, Optic nerve hypoplasia, Microcornea, Coloboma, Microphthalmia |
OMIM:610125 |
Leber Congenital Amaurosis 8 |
|
Keratoconus, Cataract, Macular coloboma, Nummular pigmentation of the fundus, Pigmentary retinopathy |
OMIM:613835 |
Supernumerary Nostril |
|
Microcornea, Developmental cataract |
ORPHA:141096 |
Cataract 32, Multiple Types |
|
Anterior polar cataract |
OMIM:115650 |
Vitreoretinochoroidopathy |
|
Retinal detachment, Pulverulent cataract, Developmental cataract, Microcornea, Pigmentary retinop... |
OMIM:193220 |
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts |
|
Developmental cataract |
OMIM:600559 |
Cardiomyopathy, Dilated, 1Ii |
|
Cataract |
OMIM:615184 |
Leber Congenital Amaurosis 2 |
|
Keratoconus, Optic disc pallor, Cataract, Pigmentary retinopathy |
OMIM:204100 |
X-Linked Immunoneurologic Disorder |
|
Cataract |
ORPHA:2571 |
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Microphthalmia, Optic atrophy, Abnormality of retinal pigmentation |
ORPHA:1574 |
Coloboma, Ocular, Autosomal Recessive |
|
Cataract, Optic disc coloboma, Retinal coloboma, Lens subluxation, Iris coloboma |
OMIM:216820 |
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome |
|
Bone spicule pigmentation of the retina, Cataract, Retinal pigment epithelial atrophy |
OMIM:616108 |
Retinal Dystrophy And Iris Coloboma With Or Without Cataract |
|
Posterior synechiae of the anterior chamber, Iris coloboma, Developmental cataract |
OMIM:616722 |
Microphthalmia, Isolated, With Coloboma 9 |
|
Retinal detachment, Macular coloboma, Sclerocornea, Microcornea, Microphthalmia, Ocular anterior ... |
OMIM:615145 |
Peroxisome Biogenesis Disorder 11B |
|
Cataract |
OMIM:614885 |
Leber Congenital Amaurosis |
|
Keratoconus, Abnormality of retinal pigmentation, Abnormal optic disc morphology, Cataract |
ORPHA:65 |
Microphthalmia With Brain And Digit Anomalies |
|
Anophthalmia, Cataract, Sclerocornea, Microcornea, Chorioretinal coloboma, Microphthalmia, Iris c... |
ORPHA:139471 |
Galactose Epimerase Deficiency |
|
Cataract |
ORPHA:79238 |
Idiopathic Uveal Effusion Syndrome |
|
Microphthalmia, Abnormal anterior eye segment morphology, Exudative retinal detachment |
ORPHA:209956 |
Anterior Segment Dysgenesis 4 |
|
Hypoplastic iris stroma, Iris hypopigmentation |
OMIM:137600 |
Galactose Mutarotase Deficiency |
|
Cataract |
ORPHA:570422 |
Microphthalmia, Isolated 4 |
|
Microphthalmia, Coloboma |
OMIM:613094 |
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects |
|
Nuclear cataract, Cataract |
OMIM:608885 |
Nail-Patella Syndrome |
|
Keratoconus, Cataract, Antecubital pterygium, Microcornea, Microphakia, Lester's sign |
OMIM:161200 |
Chromosome 11P13 Deletion Syndrome, Distal |
|
Aniridia |
OMIM:616902 |
Nanophthalmos |
|
Microphthalmia, Abnormality of retinal pigmentation |
ORPHA:35612 |
Cat-Eye Syndrome |
|
Microphthalmia, Iris coloboma, Chorioretinal coloboma |
ORPHA:195 |
Amoebic Keratitis |
|
Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anterior chamber morphol... |
ORPHA:67043 |
Developmental And Epileptic Encephalopathy 35 |
|
Cataract |
OMIM:616647 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3 |
|
Microphthalmia |
OMIM:616335 |
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Cataract |
ORPHA:1875 |
Ceroid Lipofuscinosis, Neuronal, 3 |
|
Macular degeneration, Cataract, Optic atrophy, Retinal degeneration |
OMIM:204200 |
Cataract 16, Multiple Types |
|
Posterior polar cataract, Lenticonus, Developmental cataract |
OMIM:613763 |
Adult-Onset Multiple Mitochondrial Dna Deletion Syndrome Due To Dguok Deficiency |
|
Cataract, Optic atrophy |
ORPHA:329314 |
Aniridia-Absent Patella Syndrome |
|
Aniridia, Cataract |
ORPHA:1069 |
Corneal Dystrophy, Fuchs Endothelial, 1 |
|
Corneal dystrophy, Corneal stromal edema, Corneal guttata, Corneal degeneration, Descemet Membran... |
OMIM:136800 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Microcornea, Microphthalmia, Cataract |
ORPHA:48431 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Retinal detachment, Cataract, Corneal opacity, Coloboma, Microphthalmia |
OMIM:613153 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Microphthalmia, Cataract |
OMIM:618805 |
Gombo Syndrome |
|
Microphthalmia |
OMIM:233270 |
Otodental Syndrome |
|
Cataract, Lens coloboma, Microcornea, Microphthalmia, Iris coloboma |
ORPHA:2791 |
Cerebrooculofacioskeletal Syndrome 2 |
|
Microphthalmia, Cataract, Developmental cataract |
OMIM:610756 |
Rhizomelic Chondrodysplasia Punctata, Type 2 |
|
Cataract, Zonular cataract, Optic nerve hypoplasia |
OMIM:222765 |
Microphthalmia, Syndromic 8 |
|
Microcornea, Microphthalmia |
OMIM:601349 |
Usher Syndrome Type 3 |
|
Cataract, Astigmatism, Iris hypopigmentation |
ORPHA:231183 |
Mevalonic Aciduria |
|
Nuclear cataract, Cataract |
OMIM:610377 |
Spondyloepiphyseal Dysplasia, Kondo-Fu Type |
|
Cataract |
OMIM:618392 |
Developmental Delay With Variable Neurologic And Brain Abnormalities |
|
Microphthalmia, Astigmatism, Cataract |
OMIM:619694 |
Achromatopsia 3 |
|
Cataract |
OMIM:262300 |
Martsolf Syndrome 2 |
|
Cataract, Developmental cataract |
OMIM:619420 |
Warburg Micro Syndrome 1 |
|
Microcornea, Microphthalmia, Optic atrophy, Developmental cataract |
OMIM:600118 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Microphthalmia, Developmental cataract |
OMIM:613155 |
Leber Congenital Amaurosis 1 |
|
Keratoconus, Pigmentary retinopathy, Cataract, Optic disc drusen |
OMIM:204000 |
Nanophthalmos 4 |
|
Microphthalmia, Optic disc drusen |
OMIM:615972 |
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
|
Retinal detachment, Cataract, Corneal opacity, Myopic astigmatism, Optic atrophy, Microcornea, As... |
OMIM:152950 |
Nance-Horan Syndrome |
|
Microcornea, Microphthalmia, Posterior Y-sutural cataract, Developmental cataract |
OMIM:302350 |
Intestinal Dysmotility Syndrome |
|
Cataract |
OMIM:620045 |
Congenital Rubella Syndrome |
|
Abnormality of retinal pigmentation, Cataract, Corneal opacity, Aplasia/Hypoplasia of the iris, M... |
ORPHA:290 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14 |
|
Cataract |
OMIM:615352 |
Cataracts, Spastic Paraparesis, And Speech Delay |
|
Cataract |
OMIM:619338 |
Corneal Dystrophy, Fuchs Endothelial, 8 |
|
Corneal dystrophy, Corneal guttata |
OMIM:615523 |
Senior-Loken Syndrome |
|
Abnormality of retinal pigmentation, Cataract |
ORPHA:3156 |
Peroxisomal Fatty Acyl-Coa Reductase 1 Disorder |
|
Cataract |
OMIM:616154 |
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Cataract, Microcornea, Iris transillumination defect, Coloboma, Microphthalmia |
OMIM:617306 |
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation |
|
Cataract |
OMIM:608227 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Cataract, Abnormally large globe, Coloboma, Microphthalmia, Retinal degeneration |
OMIM:615249 |
Isolated Ectopia Lentis |
|
Ectopia pupillae, Cataract, Ectopia lentis |
ORPHA:1885 |
Retinitis Pigmentosa 13 |
|
Bone spicule pigmentation of the retina, Subcapsular cataract, Optic disc drusen, Retinal degener... |
OMIM:600059 |
Genetic Hyperferritinemia Without Iron Overload |
|
Cataract |
ORPHA:254704 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Microphthalmia, Optic atrophy, Coloboma |
OMIM:274270 |
Bartsocas-Papas Syndrome 2 |
|
Corneal opacity, Antecubital pterygium, Popliteal pterygium, Microphthalmia, Axillary pterygium |
OMIM:619339 |
Macrophthalmia, Colobomatous, With Microcornea |
|
Flat cornea, Macular atrophy, Optic disc coloboma, Increased axial length of the globe, Microcorn... |
OMIM:602499 |
Dermatitis, Atopic |
|
Keratoconus, Cataract, Conjunctivitis |
OMIM:603165 |
Familial Exudative Vitreoretinopathy |
|
Cataract, Rhegmatogenous retinal detachment, Abnormal optic disc morphology, Retinal neovasculari... |
ORPHA:891 |
Pelvis-Shoulder Dysplasia |
|
Microphthalmia, Optic disc coloboma, Iris coloboma, Opacification of the corneal stroma |
OMIM:169550 |
3-Methylglutaconic Aciduria Type 4 |
|
Cataract, Iris hypopigmentation |
ORPHA:67048 |
Arthrogryposis And Ectodermal Dysplasia |
|
Nuclear cataract |
OMIM:601701 |
Rodrigues Blindness |
|
Microcornea, Microphthalmia, Sclerocornea |
OMIM:268320 |
Infantile Spasms-Broad Thumbs Syndrome |
|
Optic disc pallor, Cataract |
ORPHA:3173 |
Ectodermal Dysplasia-Blindness Syndrome |
|
Cataract, Corneal dystrophy, Sclerocornea, Microcornea, Keratoconjunctivitis sicca, Microphthalmia |
ORPHA:1806 |
Temtamy Syndrome |
|
Microphthalmia, Iris coloboma, Chorioretinal coloboma |
ORPHA:1777 |
Facial Clefting, Oblique, 1 |
|
Microphthalmia, Coloboma |
OMIM:600251 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Microphthalmia, Cataract |
ORPHA:93267 |
Microcephaly-Brachydactyly-Kyphoscoliosis Syndrome |
|
Cataract |
ORPHA:3433 |
Congenital Disorder Of Glycosylation, Type Iq |
|
Microphthalmia, Cataract, Optic atrophy, Coloboma |
OMIM:612379 |
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia |
|
Cataract |
ORPHA:1366 |
WAGR 11p13 deletion syndrome |
|
Aniridia |
DECIPHER:35 |
Autosomal Recessive Stickler Syndrome |
|
Retinal detachment, Cataract, Astigmatism |
ORPHA:250984 |
Retinitis Pigmentosa 2 |
|
Pigmentary retinopathy, Cataract |
OMIM:312600 |
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type |
|
Cataract |
ORPHA:85172 |
Stiff Skin Syndrome |
|
Cataract |
OMIM:184900 |
Oculo-Palato-Cerebral Syndrome |
|
Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Leukocoria, Microphthalmia |
ORPHA:2714 |
Microphthalmia, Isolated 1 |
|
Microphthalmia, Anophthalmia |
OMIM:251600 |
Chromosome 16Q12 Duplication Syndrome |
|
Anisocoria, Retinal pigment epithelial mottling, Cataract, Temporal optic disc pallor |
OMIM:619649 |
Weill-Marchesani Syndrome 4 |
|
Iridodonesis, Ectopia lentis, Shallow anterior chamber, Posterior synechiae of the anterior chamb... |
OMIM:613195 |
Retinitis Pigmentosa 46 |
|
Optic disc pallor, Posterior subcapsular cataract, Pigmentary retinopathy |
OMIM:612572 |
Tricho-Retino-Dento-Digital Syndrome |
|
Abnormality of retinal pigmentation, Juvenile cataract |
ORPHA:1264 |
Exudative Vitreoretinopathy 2, X-Linked |
|
Retinal detachment, Microphthalmia, Shallow anterior chamber, Retinal neovascularization |
OMIM:305390 |
Crome Syndrome |
|
Developmental cataract |
OMIM:218900 |
Premature Ovarian Failure 12 |
|
Microphthalmia |
OMIM:616947 |
Aniridia, Partial, With Unilateral Renal Agenesis And Psychomotor Retardation |
|
Aniridia, Developmental glaucoma |
OMIM:206750 |
Kniest Dysplasia |
|
Cataract, Aplasia/Hypoplasia of the lens, Lens luxation |
ORPHA:485 |
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome |
|
Cataract |
ORPHA:1345 |
Lissencephaly 5 |
|
Cataract, Optic atrophy |
OMIM:615191 |
Hypergonadotropic Hypogonadism-Cataract Syndrome |
|
Cataract |
ORPHA:2410 |
Wagr Syndrome |
|
Aplasia/Hypoplasia of the iris, Cataract |
ORPHA:893 |
Weill-Marchesani Syndrome |
|
Cataract, Ectopia lentis |
ORPHA:3449 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Anophthalmia, Cataract, Sclerocornea, Microcornea, Coloboma, Ectopia pupillae, Microphthalmia |
OMIM:615877 |
Woolly Hair |
|
Abnormal pupil morphology, Cataract |
ORPHA:170 |
Temtamy Syndrome |
|
Ectopia lentis, Lens luxation, Chorioretinal coloboma, Microphthalmia, Iris coloboma |
OMIM:218340 |
Peroxisome Biogenesis Disorder 14B |
|
Developmental cataract |
OMIM:614920 |
Alpha-Methylacyl-Coa Racemase Deficiency |
|
Pigmentary retinopathy, Cataract |
OMIM:614307 |
Usher Syndrome Type 1 |
|
Cataract, Iris hypopigmentation |
ORPHA:231169 |
Birdshot Chorioretinopathy |
|
Retinal detachment, Cataract, Optic disc pallor, Macular scar |
ORPHA:179 |
Mevalonic Aciduria |
|
Cataract |
ORPHA:29 |
Frontonasal Dysplasia 1 |
|
Microphthalmia, Cataract, Coloboma |
OMIM:136760 |
Myopathy, Distal, 7, Adult-Onset, X-Linked |
|
Cataract |
OMIM:301075 |
Corneal Endothelial Dystrophy |
|
Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat... |
OMIM:217700 |
Flynn-Aird Syndrome |
|
Cataract |
OMIM:136300 |
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness |
|
Cataract |
OMIM:132450 |
Hereditary Leiomyomatosis And Renal Cell Cancer |
|
Cataract |
ORPHA:523 |
Intellectual Developmental Disorder And Retinitis Pigmentosa |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Macul... |
OMIM:618195 |
Frontofacionasal Dysplasia |
|
Cataract, Brushfield spots, Microcornea, Limbal dermoid, Microphthalmia, Iris coloboma |
ORPHA:1791 |
Schwannomatosis, Vestibular |
|
Juvenile posterior subcapsular lenticular opacities, Cortical cataract |
OMIM:101000 |
Anterior Segment Dysgenesis 6 |
|
Corneal opacity, Abnormal Descemet membrane morphology, Developmental glaucoma, Posterior synechi... |
OMIM:617315 |
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia |
|
Nuclear cataract |
ORPHA:1010 |
Visual Impairment And Progressive Phthisis Bulbi |
|
Phthisis bulbi, Flat cornea |
OMIM:618283 |
Microphthalmia, Isolated 8 |
|
Retinal detachment, Anophthalmia, Optic nerve hypoplasia, Retinal coloboma, Microphthalmia, True ... |
OMIM:615113 |
X-Linked Intellectual Disability, Najm Type |
|
Cataract, Optic atrophy, Optic nerve hypoplasia, Chorioretinal coloboma |
ORPHA:163937 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Retinal detachment, Cataract, Optic nerve hypoplasia, Optic atrophy, Abnormality iris morphology,... |
ORPHA:370959 |
Combined Oxidative Phosphorylation Deficiency 13 |
|
Cataract |
OMIM:614932 |
Osteoporosis-Pseudoglioma Syndrome |
|
Retinal detachment, Microphthalmia, Corneal opacity |
ORPHA:2788 |
Stickler Syndrome, Type Ii |
|
Retinal detachment, Cataract |
OMIM:604841 |
Pierpont Syndrome |
|
Microcornea, Microphthalmia |
ORPHA:487825 |
3-Methylglutaconic Aciduria, Type Viib |
|
Cataract, Zonular cataract |
OMIM:616271 |
Leukodystrophy, Hypomyelinating, 24 |
|
Cataract |
OMIM:619851 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Cataract, Corneal opacity, Bilateral microphthalmos, Coloboma, Microphthalmia, Conjunctival hyper... |
ORPHA:2399 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Microphthalmia, Retinal dysplasia |
OMIM:614830 |
Neurooculocardiogenitourinary Syndrome |
|
Microphthalmia, Coloboma, Peters anomaly |
OMIM:618652 |
Retinitis Pigmentosa |
|
Keratoconus, Abnormality of retinal pigmentation, Cataract, Optic atrophy |
ORPHA:791 |
Peroxisome Biogenesis Disorder 10B |
|
Cataract |
OMIM:617370 |
Stickler Syndrome Type 1 |
|
Retinal detachment, Cataract |
ORPHA:90653 |
Monilethrix |
|
Cataract |
ORPHA:573 |
Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Microphthalmia, Cataract, Retinal pigment epithelial mottling |
OMIM:614105 |
Alg2-Cdg |
|
Cataract, Iris coloboma |
ORPHA:79326 |
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract |
|
Subcapsular cataract, Optic atrophy, Cataract |
OMIM:612674 |
Linear Verrucous Nevus Syndrome |
|
Abnormal cornea morphology, Cataract, Iris coloboma, Aplasia/Hypoplasia of the fovea |
ORPHA:2611 |
Aniridia 1 |
|
Hypoplasia of the fovea, Anterior subcapsular cataract, Cataract, Optic nerve hypoplasia, Ectopia... |
OMIM:106210 |
Xeroderma Pigmentosum, Complementation Group D |
|
Cataract, Keratitis, Keratoconjunctivitis sicca, Conjunctivitis, Microphthalmia, Corneal neovascu... |
OMIM:278730 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 14 |
|
Cataract |
OMIM:615350 |
Vogt-Koyanagi-Harada Disease |
|
Retinal detachment, Cataract |
ORPHA:3437 |
Adams-Oliver Syndrome 2 |
|
Microphthalmia, Optic atrophy, Developmental cataract |
OMIM:614219 |
Warburg Micro Syndrome 2 |
|
Cataract, Optic atrophy, Developmental cataract, Microcornea, Microphthalmia |
OMIM:614225 |
Hereditary Cryohydrocytosis With Reduced Stomatin |
|
Cataract, Zonular cataract |
ORPHA:168577 |
Hypomelanosis Of Ito |
|
Cataract, Iris coloboma |
OMIM:300337 |
Pierson Syndrome |
|
Retinal detachment, Rieger anomaly, Hypoplasia of the ciliary body, Cataract, Remnants of the hya... |
OMIM:609049 |
Xeroderma Pigmentosum, Complementation Group B |
|
Microphthalmia, Cataract, Optic atrophy, Pigmentary retinopathy |
OMIM:610651 |
Enhanced S-Cone Syndrome |
|
Pigmentary retinopathy, Cataract |
OMIM:268100 |
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development |
|
Cataract, Band keratopathy |
OMIM:604278 |
Joubert Syndrome 9 |
|
Cataract, Astigmatism |
OMIM:612285 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Microphthalmia, Lens coloboma |
OMIM:618914 |
Vitamin K Antagonist Embryofetopathy |
|
Aplasia/Hypoplasia affecting the eye, Optic atrophy, Cataract |
ORPHA:1914 |
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type) |
|
Macular degeneration, Cataract |
OMIM:619780 |
Achondrogenesis Type 2 |
|
Retinal detachment, Cataract, Lens subluxation |
ORPHA:93296 |
Warburg Micro Syndrome 3 |
|
Cataract, Optic atrophy, Developmental cataract, Microcornea, Shallow anterior chamber, Microphth... |
OMIM:614222 |
Autosomal Recessive Spastic Paraplegia Type 26 |
|
Cataract |
ORPHA:101006 |
Tetraamelia-Multiple Malformations Syndrome |
|
Septo-optic dysplasia, Cataract, Optic atrophy, Microcornea, Microphthalmia, Iris coloboma |
ORPHA:3301 |
Premature Aging Syndrome, Okamoto Type |
|
Cataract |
OMIM:601811 |
Biemond Syndrome Type 2 |
|
Microphthalmia, Coloboma |
ORPHA:141333 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Cataract |
ORPHA:2643 |
Oculofaciocardiodental Syndrome |
|
Retinal detachment, Cataract, Ectopia lentis, Microcornea, Microphthalmia, Iris coloboma |
ORPHA:2712 |
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome |
|
Cataract, Developmental cataract |
ORPHA:436174 |
Chondrodysplasia Punctata 1, X-Linked Recessive |
|
Cataract |
OMIM:302950 |
Pierpont Syndrome |
|
Microcornea, Microphthalmia |
OMIM:602342 |
Cerebrooculofacioskeletal Syndrome 3 |
|
Microphthalmia |
OMIM:616570 |
Curry-Jones Syndrome |
|
Microphthalmia, Optic disc coloboma, Iris coloboma |
ORPHA:1553 |
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of |
|
Sutural cataract |
OMIM:201470 |
Hypoparathyroidism, Familial Isolated, 1 |
|
Cataract |
OMIM:146200 |
Congenital Muscular Dystrophy, Fukuyama Type |
|
Cataract, Optic atrophy, Retinal dysplasia |
ORPHA:272 |
Walker-Warburg Syndrome |
|
Retinal detachment, Anophthalmia, Corneal opacity, Cataract, Optic atrophy, Microcornea, Retinal ... |
ORPHA:899 |
3Q29 Microduplication Syndrome |
|
Cataract, Sclerocornea, Aniridia, Microphthalmia, Iris coloboma |
ORPHA:251038 |
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Cataract, Optic atrophy, Ectopia pupillae, Astigmatism, Microphthalmia |
OMIM:618727 |
Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Microphthalmia, Retinal dysplasia |
OMIM:615771 |
Pontocerebellar Hypoplasia, Type 16 |
|
Cataract, Optic atrophy |
OMIM:619527 |
Neonatal Adrenoleukodystrophy |
|
Abnormality of retinal pigmentation, Cataract, Optic atrophy |
ORPHA:44 |
Bardet-Biedl Syndrome 9 |
|
Bone spicule pigmentation of the retina, Astigmatism, Retinal degeneration, Cataract |
OMIM:615986 |
Chromosome 17Q12 Duplication Syndrome |
|
Microphthalmia, Peters anomaly |
OMIM:614526 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Buphthalmos, Microphthalmia, Cataract |
OMIM:616538 |
Warburg Micro Syndrome 4 |
|
Microcornea, Microphthalmia, Optic atrophy, Developmental cataract |
OMIM:615663 |
Joubert Syndrome 22 |
|
Microphthalmia, Retinal dysplasia, Coloboma |
OMIM:615665 |
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 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Retinal detachment, Microphthalmia, Cataract |
ORPHA:163649 |
Refsum Disease |
|
Microphthalmia, Cataract, Abnormality of retinal pigmentation |
ORPHA:773 |
Gyrate Atrophy Of Choroid And Retina |
|
Cataract, Subcapsular cataract |
ORPHA:414 |
Autosomal Dominant Optic Atrophy And Cataract |
|
Anterior subcapsular cataract, Cataract, Posterior cortical cataract, Cerulean cataract, Anterior... |
ORPHA:67036 |
Ifap Syndrome 2 |
|
Keratitis, Keratoconjunctivitis sicca, Cataract |
OMIM:619016 |
Adult-Onset Autosomal Recessive Cerebellar Ataxia |
|
Macular degeneration, Cataract, Tortuosity of conjunctival vessels |
ORPHA:284289 |
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis |
|
Cataract |
OMIM:615704 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Microphthalmia, Anophthalmia, Iris coloboma, Sclerocornea |
ORPHA:77298 |
Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Corneal erosion, Cataract |
OMIM:614878 |
Srd5A3-Cdg |
|
Optic atrophy, Coloboma, Cataract, Optic disc hypoplasia |
ORPHA:324737 |
Nevus Comedonicus Syndrome |
|
Cataract |
ORPHA:64754 |
Reese Retinal Dysplasia |
|
Remnants of the hyaloid vascular system, Retinal dysplasia |
OMIM:266400 |
Weill-Marchesani Syndrome 1 |
|
Microspherophakia, Shallow anterior chamber, Cataract, Ectopia lentis |
OMIM:277600 |
Trisomy 13 |
|
Anophthalmia, Cataract, Optic atrophy, Aplasia/Hypoplasia of the iris, Microphthalmia, Iris coloboma |
ORPHA:3378 |
Micro Syndrome |
|
Abnormality of retinal pigmentation, Cataract, Optic atrophy, Microcornea, Retinal coloboma, Micr... |
ORPHA:2510 |
Trichothiodystrophy 3, Photosensitive |
|
Microphthalmia, Cataract, Developmental cataract |
OMIM:616395 |
Microcephaly 10, Primary, Autosomal Recessive |
|
Cataract |
OMIM:615095 |
Bresek Syndrome |
|
Microphthalmia, Iris coloboma, Optic nerve hypoplasia |
ORPHA:85284 |
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 |
Fuchs Heterochromic Iridocyclitis |
|
Anterior chamber inflammatory cells, Iris atrophy, Papilledema, Cataract, Optic disc pallor, Anis... |
ORPHA:263479 |
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies |
|
Microphthalmia, Astigmatism, Retinal coloboma, Cataract |
OMIM:618571 |
Congenital Fibrinogen Deficiency |
|
Microphthalmia, Developmental cataract |
ORPHA:335 |
Hemochromatosis, Type 4 |
|
Cataract |
OMIM:606069 |
Rere-Related Neurodevelopmental Syndrome |
|
Optic atrophy, Astigmatism, Chorioretinal coloboma, Peters anomaly, Microphthalmia, Iris coloboma |
ORPHA:494344 |
Stromme Syndrome |
|
Cataract, Optic nerve hypoplasia, Sclerocornea, Microcornea, Peters anomaly, Microphthalmia, Iris... |
OMIM:243605 |
Kapur-Toriello Syndrome |
|
Microphthalmia, Cataract, Retinal coloboma, Iris coloboma |
OMIM:244300 |
Sandestig-Stefanova Syndrome |
|
Microphthalmia, Developmental cataract |
OMIM:618804 |
Craniotelencephalic Dysplasia |
|
Microphthalmia, Septo-optic dysplasia, Optic atrophy |
ORPHA:1528 |
Kapur-Toriello Syndrome |
|
Microphthalmia, Retinal coloboma, Iris coloboma |
ORPHA:2328 |
Pseudopseudohypoparathyroidism |
|
Cataract |
OMIM:612463 |
Alport Syndrome 2, Autosomal Recessive |
|
Corneal erosion, Cataract, Anterior lenticonus |
OMIM:203780 |
Familial Isolated Hypoparathyroidism |
|
Cataract |
ORPHA:2238 |
Mmep Syndrome |
|
Microphthalmia |
ORPHA:3434 |
Muscle-Eye-Brain Disease |
|
Cataract, Optic atrophy |
ORPHA:588 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Microphthalmia, Cataract |
OMIM:214150 |
Chromosome Xp11.3 Deletion Syndrome |
|
Pigmentary retinopathy, Posterior subcapsular cataract, Cataract, Optic atrophy |
OMIM:300578 |
Spondyloperipheral Dysplasia-Short Ulna Syndrome |
|
Retinal detachment, Cataract |
ORPHA:1856 |
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Optic atrophy |
OMIM:268315 |
Microphthalmia, Lenz Type |
|
Cataract, Optic disc coloboma, Microcornea, Chorioretinal coloboma, Microphthalmia, Iris coloboma |
ORPHA:568 |
Adams-Oliver Syndrome 4 |
|
Microphthalmia |
OMIM:615297 |
Rothmund-Thomson Syndrome, Type 2 |
|
Microcornea, Microphthalmia, Cataract, Zonular cataract |
OMIM:268400 |
Iridocorneal Endothelial Syndrome |
|
Iris atrophy, Central heterochromia, Uveal ectropion, Abnormal migration of corneal endothelium, ... |
ORPHA:64734 |
Phace Association |
|
Microphthalmia, Optic atrophy, Optic nerve hypoplasia, Developmental cataract |
OMIM:606519 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Abnormality of retinal pigmentation, Retinal atrophy, Corneal opacity, Macular atrophy, Coloboma,... |
ORPHA:85167 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Microphthalmia, Conjunctival hyperemia, Coloboma |
OMIM:167730 |
Peroxisome Biogenesis Disorder 9B |
|
Cataract |
OMIM:614879 |
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant |
|
Keratitis, Cataract, Conjunctivitis |
OMIM:612843 |
Phace Syndrome |
|
Cataract, Optic nerve hypoplasia, Sclerocornea, Lens coloboma, Microphthalmia, Heterochromia irid... |
ORPHA:42775 |
Hereditary Mucoepithelial Dysplasia |
|
Cataract, Corneal dystrophy |
ORPHA:1839 |
Kenny-Caffey Syndrome, Type 2 |
|
Retinal calcification, Microphthalmia, Papilledema, Developmental cataract |
OMIM:127000 |
Norrie Disease |
|
Aplasia/Hypoplasia of the lens, Corneal opacity, Cataract, Sclerocornea, Ectopia lentis, Abnormal... |
ORPHA:649 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Retinal detachment, Cataract, Corneal opacity, Optic nerve hypoplasia, Retinal atrophy, Optic atr... |
OMIM:236670 |
Weill-Marchesani Syndrome 2 |
|
Iridodonesis, Cataract, Lens luxation, Ectopia lentis, Microspherophakia, Shallow anterior chambe... |
OMIM:608328 |
Trichothiodystrophy 4, Nonphotosensitive |
|
Microcornea, Microphthalmia, Keratoconjunctivitis sicca, Optic atrophy |
OMIM:234050 |
8Q21.11 Microdeletion Syndrome |
|
Cataract, Corneal opacity, Sclerocornea, Microphthalmia, Iris hypopigmentation |
ORPHA:284160 |
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy |
|
Buphthalmos, Cataract |
ORPHA:370997 |
Papillorenal Syndrome |
|
Retinal detachment, Cataract, Lens luxation, Optic disc coloboma, Macular degeneration, Retinal c... |
OMIM:120330 |
Frontorhiny |
|
Microphthalmia, Cataract, Iris coloboma |
ORPHA:391474 |
Craniotelencephalic Dysplasia |
|
Microphthalmia, Optic nerve hypoplasia |
OMIM:218670 |
Histiocytoid Cardiomyopathy |
|
Microphthalmia, Megalocornea, Corneal opacity, Congenital aphakia |
ORPHA:137675 |
Oligoarticular Juvenile Idiopathic Arthritis |
|
Cataract, Anterior chamber synechiae, Band keratopathy |
ORPHA:85410 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Cataract, Buphthalmos, Persistent pupillary membrane, Peters anomaly, Microphthalmia |
OMIM:613150 |
Dystonia-Deafness Syndrome 1 |
|
Cataract |
OMIM:607371 |
Refsum Disease, Classic |
|
Cataract, Retinal degeneration |
OMIM:266500 |
Microphthalmia, Syndromic 12 |
|
Microphthalmia, Anophthalmia |
OMIM:615524 |
Chromosome 8Q21.11 Deletion Syndrome |
|
Microphthalmia, Cataract, Pigmentary retinopathy, Sclerocornea |
OMIM:614230 |
Craniolenticulosutural Dysplasia |
|
Punctate cataract, Posterior Y-sutural cataract |
OMIM:607812 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Microphthalmia, Anophthalmia, Iris coloboma, Cataract |
ORPHA:2250 |
Knobloch Syndrome 1 |
|
Band keratopathy, Developmental cataract, Iris transillumination defect, Macular hypoplasia, Lens... |
OMIM:267750 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Retinal detachment, Cataract, Optic atrophy, Retinal dysplasia, Microphthalmia |
OMIM:253800 |
Hereditary Bullous Dystrophy, Macular Type |
|
Cataract, Corneal opacity |
ORPHA:1867 |
Fryns Microphthalmia Syndrome |
|
Microphthalmia, Anophthalmia |
OMIM:600776 |
Intermediate Uveitis |
|
Posterior synechiae of the anterior chamber, Cataract, Macular scar, Band keratopathy |
ORPHA:279914 |
Optic Nerve Hypoplasia, Bilateral |
|
Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia |
OMIM:165550 |
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome |
|
Cataract |
ORPHA:369847 |
Baraitser-Winter Syndrome 1 |
|
Microphthalmia, Iris coloboma, Chorioretinal coloboma |
OMIM:243310 |
Microphthalmia, Syndromic 3 |
|
Optic nerve aplasia, Anophthalmia, Cataract, Optic nerve hypoplasia, Sclerocornea, Coloboma, Micr... |
OMIM:206900 |
Alpha-Mannosidosis, Adult Form |
|
Optic disc pallor, Cataract, Corneal opacity |
ORPHA:309288 |
Congenital Toxoplasmosis |
|
Microphthalmia, Abnormality of retinal pigmentation |
ORPHA:858 |
X-Linked Dominant Chondrodysplasia Punctata |
|
Microcornea, Microphthalmia, Cataract |
ORPHA:35173 |
Developmental Malformations-Deafness-Dystonia Syndrome |
|
Cataract |
ORPHA:79107 |
Oculogastrointestinal Neurodevelopmental Syndrome |
|
Coloboma, Bilateral microphthalmos, Unilateral microphthalmos |
OMIM:619318 |
Autoimmune Polyendocrinopathy Type 1 |
|
Cataract, Opacification of the corneal stroma |
ORPHA:3453 |
Lymphedema-Hypoparathyroidism Syndrome |
|
Cataract |
OMIM:247410 |
Usher Syndrome Type 2 |
|
Cataract, Iris hypopigmentation |
ORPHA:231178 |
Harlequin Ichthyosis |
|
Cataract |
ORPHA:457 |
Fanconi Anemia, Complementation Group G |
|
Microphthalmia |
OMIM:614082 |
Mietens Syndrome |
|
Microcornea, Cataract, Corneal opacity, Sclerocornea |
ORPHA:2557 |
Gracile Bone Dysplasia |
|
Aniridia, Microphthalmia |
OMIM:602361 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Microcornea, Microphthalmia, Cataract |
OMIM:616449 |
Baraitser-Winter Syndrome 2 |
|
Microphthalmia, Coloboma |
OMIM:614583 |
Knobloch Syndrome 2 |
|
Anterior cortical cataract |
OMIM:618458 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Microcornea, Microphthalmia, Cataract, Persistent pupillary membrane |
OMIM:257850 |
Fanconi Anemia, Complementation Group I |
|
Microphthalmia, Astigmatism, Optic nerve hypoplasia |
OMIM:609053 |
Multiple Benign Circumferential Skin Creases On Limbs |
|
Microcornea, Microphthalmia |
ORPHA:2505 |
Acro-Renal-Ocular Syndrome |
|
Cataract, Optic disc hypoplasia, Optic disc coloboma, Microcornea, Coloboma, Chorioretinal colobo... |
ORPHA:959 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Cataract, Sclerocornea, Pigmentary retinopathy, Peters anomaly, Microphthalmia, Iris coloboma |
OMIM:309801 |
Xk Aprosencephaly Syndrome |
|
Microphthalmia |
ORPHA:3469 |
Atelis Syndrome 2 |
|
Microphthalmia, Remnants of the hyaloid vascular system, Developmental cataract |
OMIM:620185 |
Multiple Sulfatase Deficiency |
|
Optic atrophy, Abnormality of retinal pigmentation, Cataract, Corneal opacity |
ORPHA:585 |
Congenital Bile Acid Synthesis Defect Type 4 |
|
Pigmentary retinopathy, Cataract |
ORPHA:79095 |
Cadds |
|
Cataract |
ORPHA:369942 |
Encephalocraniocutaneous Lipomatosis |
|
Hypoplasia of the iris, Microphthalmia, Limbal dermoid, Sclerocornea |
OMIM:613001 |
Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Microphthalmia, Optic disc pallor |
OMIM:300887 |
Wolfram Syndrome 1 |
|
Pigmentary retinopathy, Cataract, Optic atrophy |
OMIM:222300 |
Idiopathic Panuveitis |
|
Conjunctival hyperemia, Cataract, Posterior synechiae of the anterior chamber |
ORPHA:280921 |
Frontofacionasal Dysplasia |
|
Microcornea, Microphthalmia, Cataract, Iris coloboma |
OMIM:229400 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Cataract, Retinal atrophy, Optic atrophy, Buphthalmos, Coloboma, Hypoplasia of the retina, Retina... |
OMIM:253280 |
Trichothiodystrophy 1, Photosensitive |
|
Microcornea, Microphthalmia, Keratoconjunctivitis sicca, Cataract |
OMIM:601675 |
Oculocerebrocutaneous Syndrome |
|
Microphthalmia, Anophthalmia |
OMIM:164180 |
Congenital Tufting Enteropathy |
|
Optic disc coloboma, Corneal erosion, Cataract, Punctate keratitis |
ORPHA:92050 |
3Q29 Microdeletion Syndrome |
|
Microphthalmia, Cataract |
ORPHA:65286 |
Steinfeld Syndrome |
|
Microphthalmia, Retinal coloboma, Iris coloboma |
OMIM:184705 |
Full Nf2-Related Schwannomatosis |
|
Posterior subcapsular cataract, Cortical cataract |
ORPHA:637 |
Osteoporosis-Pseudoglioma Syndrome |
|
Iris atrophy, Cataract, Phthisis bulbi, Retinal calcification, Absent anterior chamber of the eye... |
OMIM:259770 |
Incontinentia Pigmenti |
|
Hypoplasia of the fovea, Retinal detachment, Cataract, Keratitis, Optic atrophy, Retinal hemorrha... |
OMIM:308300 |
Dahlberg-Borer-Newcomer Syndrome |
|
Cataract |
ORPHA:1563 |
Proteus-Like Syndrome |
|
Retinal detachment, Cataract, Abnormal pupil morphology, Limbal dermoid, Heterochromia iridis |
ORPHA:2969 |
Adams-Oliver Syndrome |
|
Microphthalmia, Cataract |
ORPHA:974 |
Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Microcornea, Microphthalmia |
OMIM:110100 |
Martsolf Syndrome 1 |
|
Microphthalmia, Cataract, Developmental cataract |
OMIM:212720 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Microphthalmia, Sclerocornea |
OMIM:300952 |
Fanconi Anemia, Complementation Group J |
|
Microphthalmia |
OMIM:609054 |
Solitary Median Maxillary Central Incisor |
|
Microphthalmia, Cyclopia, Anophthalmia, Coloboma |
OMIM:147250 |
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome |
|
Microphthalmia, Ocular albinism |
ORPHA:1352 |
Skin Creases, Congenital Symmetric Circumferential, 1 |
|
Microcornea, Microphthalmia |
OMIM:156610 |
Duane-Radial Ray Syndrome |
|
Cataract, Optic disc hypoplasia, Retinal coloboma, Microphthalmia, Iris coloboma |
OMIM:607323 |
Wagro Syndrome |
|
Aniridia, Cataract, Corneal opacity |
OMIM:612469 |
Meckel Syndrome, Type 8 |
|
Microphthalmia, Anophthalmia |
OMIM:613885 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Microphthalmia |
OMIM:602501 |
Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Microphthalmia, Cataract |
OMIM:302960 |
Craniolenticulosutural Dysplasia |
|
Posterior Y-sutural cataract |
ORPHA:50814 |
1Q21.1 Microdeletion Syndrome |
|
Microphthalmia, Cataract, Iris coloboma |
ORPHA:250989 |
Lymphedema-Distichiasis Syndrome |
|
Microphthalmia, Corneal ulceration, Conjunctivitis, Recurrent corneal erosions |
OMIM:153400 |
Monosomy 13Q14 |
|
Microphthalmia, Cataract, Iris coloboma |
ORPHA:1587 |
Galloway-Mowat Syndrome 1 |
|
Cataract, Optic atrophy, Hypoplasia of the iris, Opacification of the corneal stroma, Microphthalmia |
OMIM:251300 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Ocular anterior segment dysgenesis, Bilateral microphthalmos |
ORPHA:369891 |
Developmental And Epileptic Encephalopathy 1 |
|
Microphthalmia |
OMIM:308350 |
Werner Syndrome |
|
Cataract, Retinal degeneration |
OMIM:277700 |
Proboscis Lateralis |
|
Anophthalmia, Corneal opacity, Optic nerve hypoplasia, Cataract, Optic disc coloboma, Microcornea... |
ORPHA:141099 |
Pelvis-Shoulder Dysplasia |
|
Microcornea, Bilateral microphthalmos, Retinal coloboma, Iris coloboma |
ORPHA:2839 |
Acrofrontofacionasal Dysostosis 1 |
|
Microphthalmia, Iris atrophy, Optic atrophy |
OMIM:201180 |
Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Cataract, Ocular albinism, Iris hypopigmentation |
ORPHA:2720 |
Chondrodysplasia Punctata, Autosomal Dominant |
|
Cataract |
OMIM:118650 |
Neuroocular Syndrome |
|
Hypoplasia of the fovea, Cataract, Brushfield spots, Lens coloboma, Blue irides, Microcornea, Pet... |
OMIM:619539 |
Arrhinia-Choanal Atresia-Microphthalmia Syndrome |
|
Microphthalmia |
ORPHA:1135 |
Trisomy 18 |
|
Abnormality of retinal pigmentation, Cataract, Microcornea, Microphthalmia, Cyclopia, Iris coloboma |
ORPHA:3380 |
Leiomyomatosis, Diffuse, With Alport Syndrome |
|
Cataract, Lenticonus, Anterior lenticonus |
OMIM:308940 |
Bosma Arhinia Microphthalmia Syndrome |
|
Microphthalmia, Cataract, Coloboma |
OMIM:603457 |
Sympathetic Ophthalmia |
|
Papilledema, Retinal detachment, Cataract, Retinal hemorrhage, Anterior chamber cells, Posterior ... |
ORPHA:79098 |
Hartsfield Syndrome |
|
Microphthalmia |
ORPHA:2117 |
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Iris coloboma, Unilateral microphthalmos |
OMIM:618874 |
Incontinentia Pigmenti |
|
Retinal detachment, Cataract, Corneal opacity, Keratitis, Retinal hemorrhage, Microphthalmia |
ORPHA:464 |
Meckel Syndrome |
|
Anophthalmia, Cataract, Sclerocornea, Optic atrophy, Aplasia/Hypoplasia of the iris, Microcornea,... |
ORPHA:564 |
Marfan Syndrome |
|
Cataract, Ectopia lentis, Microspherophakia, Hypoplasia of the iris, Astigmatism |
OMIM:154700 |
Autosomal Dominant Kenny-Caffey Syndrome |
|
Retinal calcification, Papilledema, Bilateral microphthalmos, Developmental cataract |
ORPHA:93325 |
Stevenson-Carey Syndrome |
|
Microphthalmia, Coloboma |
OMIM:611961 |
Microphthalmia, Syndromic 11 |
|
Microphthalmia |
OMIM:614402 |
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Microphthalmia, Optic nerve hypoplasia |
OMIM:614833 |
Jacobsen Syndrome |
|
Optic atrophy, Microcornea, Macular hypoplasia, Chorioretinal coloboma, Microphthalmia, Iris colo... |
OMIM:147791 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Corneal opacity, Polycoria, Retinal hemorrhage, Developmental cataract, Hypoplasia of the iris, M... |
OMIM:175780 |
Linear Nevus Sebaceus Syndrome |
|
Microphthalmia, Iris coloboma |
ORPHA:2612 |
Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Microphthalmia |
ORPHA:2547 |
Sponastrime Dysplasia |
|
Microcoria, Cataract, Congenital aphakia |
ORPHA:93357 |
Cockayne Syndrome Type 3 |
|
Optic disc pallor, Cataract, Retinal atrophy, Retinal hemorrhage, Microcornea, Keratoconjunctivit... |
ORPHA:90324 |
Hallermann-Streiff Syndrome |
|
Cataract, Optic disc coloboma, Chorioretinal coloboma, Microphthalmia, Iris coloboma |
OMIM:234100 |
Braddock-Carey Syndrome 2 |
|
Microphthalmia |
OMIM:619981 |
Mycophenolate Mofetil Embryopathy |
|
Microphthalmia, Iris coloboma, Chorioretinal coloboma |
ORPHA:268249 |
Focal Dermal Hypoplasia |
|
Corneal opacity, Ectopia lentis, Hypoplasia of the iris, Chorioretinal coloboma, Microphthalmia, ... |
ORPHA:2092 |
Knobloch Syndrome |
|
Retinal detachment, Macular degeneration, Cataract, Ectopia lentis |
ORPHA:1571 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
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Retinal detachment, Abnormality of retinal pigmentation, Anophthalmia, Cataract, Optic atrophy, R... |
ORPHA:2526 |
Vacterl With Hydrocephalus |
|
Microcornea, Microphthalmia, Anophthalmia |
ORPHA:3412 |
Osteopetrosis, Autosomal Recessive 8 |
|
Optic atrophy, Unilateral microphthalmos |
OMIM:615085 |
Cohen Syndrome |
|
Microphthalmia, Optic atrophy, Abnormality of retinal pigmentation, Iris coloboma |
ORPHA:193 |
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome |
|
Microphthalmia, Iris coloboma |
ORPHA:1236 |
Microphthalmia-Brain Atrophy Syndrome |
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Bilateral microphthalmos |
ORPHA:77299 |
Monosomy 9Q22.3 |
|
Microphthalmia, Cataract |
ORPHA:77301 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
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Microcornea, Microphthalmia, Developmental cataract |
ORPHA:464738 |
Basal Cell Nevus Syndrome 1 |
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Microphthalmia, Cataract, Iris coloboma |
OMIM:109400 |
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Microphthalmia, Cataract |
ORPHA:306542 |
Tetraamelia Syndrome 1 |
|
Microphthalmia, Cataract |
OMIM:273395 |
Curry-Jones Syndrome |
|
Microphthalmia, Iris coloboma |
OMIM:601707 |
Joubert Syndrome 14 |
|
Microphthalmia, Optic atrophy, Coloboma |
OMIM:614424 |
Frontonasal Dysplasia 3 |
|
Microphthalmia |
OMIM:613456 |
Aicardi Syndrome |
|
Retinal detachment, Cataract, Optic disc coloboma, Optic atrophy, Microphthalmia |
OMIM:304050 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Microphthalmia, Cataract, Sutural cataract, Nuclear pulverulent cataract |
OMIM:612474 |
Oculodentodigital Dysplasia |
|
Microcornea, Microphthalmia, Cataract |
OMIM:164200 |
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Microphthalmia, Corneal opacity |
ORPHA:364577 |
17Q12 Microduplication Syndrome |
|
Microphthalmia |
ORPHA:261272 |
Ring Chromosome 10 Syndrome |
|
Microphthalmia |
ORPHA:1438 |
2Q31.1 Microdeletion Syndrome |
|
Microphthalmia, Optic disc coloboma, Iris coloboma, Coloboma |
ORPHA:251014 |
Deafness, X-Linked 7 |
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Unilateral microphthalmos |
OMIM:301018 |
Seckel Syndrome 2 |
|
Microphthalmia |
OMIM:606744 |
Cat Eye Syndrome |
|
Microphthalmia, Iris coloboma, Chorioretinal coloboma |
OMIM:115470 |
Subaortic Stenosis-Short Stature Syndrome |
|
Microphthalmia |
ORPHA:3191 |
Autoimmune Polyendocrine Syndrome, Type Ii |
|
Cataract, Keratoconjunctivitis, Band keratopathy |
OMIM:269200 |
Fryns Syndrome |
|
Microphthalmia, Corneal opacity |
ORPHA:2059 |
Joubert Syndrome 37 |
|
Microphthalmia |
OMIM:619185 |
Mosaic Trisomy 1 |
|
Microphthalmia, Opacification of the corneal stroma |
ORPHA:1692 |
Mend Syndrome |
|
Microphthalmia, Cataract |
ORPHA:401973 |
Mednik Syndrome |
|
Cataract |
OMIM:609313 |
Monosomy 18P |
|
Microphthalmia |
ORPHA:1598 |
Premature Aging Syndrome, Penttinen Type |
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Corneal stromal edema, Microphthalmia, Corneal opacity |
OMIM:601812 |
Cockayne Syndrome |
|
Abnormality of retinal pigmentation, Optic disc pallor, Cataract, Retinal atrophy, Band keratopat... |
ORPHA:191 |
Mosaic Trisomy 9 |
|
Microphthalmia, Corneal opacity |
ORPHA:99776 |
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Microphthalmia |
OMIM:618494 |
Myoclonic-Astatic Epilepsy |
|
Microphthalmia |
ORPHA:1942 |
Mosaic Variegated Aneuploidy Syndrome |
|
Microphthalmia, Cataract, Corneal opacity |
ORPHA:1052 |
Microphthalmia, Syndromic 2 |
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Retinal detachment, Anophthalmia, Remnants of the hyaloid vascular system, Phthisis bulbi, Develo... |
OMIM:300166 |
Moebius Syndrome |
|
Microphthalmia |
OMIM:157900 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Microphthalmia, Cyclopia, Iris coloboma |
ORPHA:3186 |
Cousin Syndrome |
|
Microcornea, Microphthalmia |
OMIM:260660 |
Hydrolethalus |
|
Microphthalmia, Anophthalmia |
ORPHA:2189 |
Cockayne Syndrome B |
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Optic atrophy, Developmental cataract, Hypoplasia of the iris, Microcornea, Pigmentary retinopath... |
OMIM:133540 |
Trichothiodystrophy |
|
Bilateral microphthalmos, Developmental cataract, Microcornea, Macular degeneration, Keratoconjun... |
ORPHA:33364 |
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
Bilateral microphthalmos, Optic nerve hypoplasia |
OMIM:607597 |
Hallermann-Streiff Syndrome |
|
Microphthalmia, Developmental cataract |
ORPHA:2108 |
Dubowitz Syndrome |
|
Hypoplasia of the iris, Microphthalmia, Megalocornea, Iris coloboma |
OMIM:223370 |
Cryptophthalmos, Unilateral Or Bilateral, Isolated |
|
Microphthalmia |
OMIM:123570 |
Microcephaly 20, Primary, Autosomal Recessive |
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Microphthalmia, Optic nerve hypoplasia |
OMIM:617914 |
Fanconi Anemia, Complementation Group S |
|
Microphthalmia |
OMIM:617883 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Microphthalmia |
OMIM:300863 |
Blau Syndrome |
|
Cataract, Iritis, Band keratopathy |
OMIM:186580 |
Lowe Oculocerebrorenal Syndrome |
|
Microphthalmia, Dense posterior cortical cataract, Corneal scarring, Developmental cataract |
OMIM:309000 |
Ritscher-Schinzel Syndrome 3 |
|
Microphthalmia, Chorioretinal coloboma |
OMIM:619135 |
Treacher-Collins Syndrome |
|
Microphthalmia, Cataract, Iris coloboma |
ORPHA:861 |
Holoprosencephaly 2 |
|
Remnants of the hyaloid vascular system, Chorioretinal coloboma, Microphthalmia, Cyclopia, Iris c... |
OMIM:157170 |
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Microphthalmia |
ORPHA:228390 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Microphthalmia |
ORPHA:404440 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Optic nerve hypoplasia, Coloboma, Abnormal optic disc morphology, Retinal coloboma, Microphthalmi... |
ORPHA:508498 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Microphthalmia, Cataract |
OMIM:620005 |
Holoprosencephaly |
|
Anophthalmia, Optic atrophy, Chorioretinal coloboma, Microphthalmia, Cyclopia, Iris coloboma |
ORPHA:2162 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Microphthalmia, Optic atrophy, Coloboma, Peters anomaly |
OMIM:616975 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 10 |
|
Microphthalmia |
OMIM:619053 |
Microphthalmia With Limb Anomalies |
|
Microphthalmia, Anophthalmia |
OMIM:206920 |
Meckel Syndrome, Type 5 |
|
Microphthalmia |
OMIM:611561 |
Roberts Syndrome |
|
Microphthalmia, Cataract |
ORPHA:3103 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Microphthalmia |
ORPHA:163966 |
Chromosome 13Q14 Deletion Syndrome |
|
Microphthalmia, Iris coloboma, Chorioretinal coloboma |
OMIM:613884 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Abnormality of retinal pigmentation, Anophthalmia, Corneal opacity, Sclerocornea, Retinal dysplas... |
ORPHA:2556 |
Heart And Brain Malformation Syndrome |
|
Microphthalmia |
OMIM:616920 |
Joubert Syndrome 2 |
|
Microphthalmia, Optic disc coloboma, Chorioretinal coloboma |
OMIM:608091 |
3P25.3 Microdeletion Syndrome |
|
Microphthalmia |
ORPHA:435638 |
Marden-Walker Syndrome |
|
Microphthalmia |
OMIM:248700 |
Bartsocas-Papas Syndrome 1 |
|
Popliteal pterygium, Opacification of the corneal stroma, Microphthalmia, Pterygium, Corneal ulce... |
OMIM:263650 |
Oculotrichoanal Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2717 |
Fetal Alcohol Syndrome |
|
Microphthalmia |
ORPHA:1915 |
Matthew-Wood Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2470 |
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies |
|
Microphthalmia |
OMIM:620098 |
Renpenning Syndrome 1 |
|
Microphthalmia, Cataract, Coloboma |
OMIM:309500 |
Chromosome 1Q41-Q42 Deletion Syndrome |
|
Microphthalmia |
OMIM:612530 |
Meckel Syndrome, Type 2 |
|
Microphthalmia |
OMIM:603194 |
Aicardi Syndrome |
|
Retinal detachment, Abnormality of retinal pigmentation, Optic disc coloboma, Optic atrophy, Chor... |
ORPHA:50 |
Myhre Syndrome |
|
Microphthalmia, Cataract |
OMIM:139210 |
Pseudotrisomy 13 Syndrome |
|
Microphthalmia, Cyclopia |
OMIM:264480 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Microphthalmia |
OMIM:241410 |
Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Microphthalmia, Corneal opacity |
OMIM:608670 |
Fanconi Anemia, Complementation Group R |
|
Microphthalmia |
OMIM:617244 |
Oculocerebrorenal Syndrome Of Lowe |
|
Cataract, Corneal opacity, Abnormal pupil morphology, Buphthalmos, Lentiglobus, Microphthalmia |
ORPHA:534 |
Meckel Syndrome, Type 4 |
|
Microphthalmia |
OMIM:611134 |
Holoprosencephaly 7 |
|
Microphthalmia, Bilateral microphthalmos, Iris coloboma |
OMIM:610828 |
Skin Creases, Congenital Symmetric Circumferential, 2 |
|
Microcornea, Microphthalmia |
OMIM:616734 |
Manitoba Oculotrichoanal Syndrome |
|
Microphthalmia, Anophthalmia |
OMIM:248450 |
Cerebrooculofacioskeletal Syndrome 4 |
|
Bilateral microphthalmos |
OMIM:610758 |
Fanconi Anemia |
|
Aplasia/Hypoplasia of the iris, Microphthalmia, Astigmatism, Cataract |
ORPHA:84 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Microphthalmia |
OMIM:619148 |
Mowat-Wilson Syndrome |
|
Cataract, Microcornea, Ectopia pupillae, Chorioretinal coloboma, Microphthalmia, Iris coloboma |
OMIM:235730 |
22Q11.2 Deletion Syndrome |
|
Cataract, Optic atrophy, Microphthalmia, Posterior embryotoxon, Corneal neovascularization |
ORPHA:567 |
Focal Dermal Hypoplasia |
|
Anophthalmia, Ectopia lentis, Optic atrophy, Chorioretinal coloboma, Aniridia, Microphthalmia, Ir... |
OMIM:305600 |
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Microphthalmia |
ORPHA:2728 |
Acromelic Frontonasal Dysostosis |
|
Remnants of the hyaloid vascular system, Optic nerve hypoplasia |
OMIM:603671 |
Momo Syndrome |
|
Bilateral microphthalmos, Chorioretinal coloboma |
ORPHA:2563 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Microphthalmia, Optic disc coloboma, Iris coloboma |
OMIM:620186 |
Frontonasal Dysplasia 2 |
|
Microphthalmia |
OMIM:613451 |
Yunis-Varon Syndrome |
|
Microphthalmia, Bilateral microphthalmos, Sclerocornea, Cataract |
ORPHA:3472 |
Neu-Laxova Syndrome 1 |
|
Microphthalmia, Pterygium, Cataract |
OMIM:256520 |
Fryns Syndrome |
|
Microphthalmia, Opacification of the corneal stroma |
OMIM:229850 |
Charge Syndrome |
|
Anophthalmia, Optic atrophy, Chorioretinal coloboma, Microphthalmia, Iris coloboma |
ORPHA:138 |
Microcephaly-Micromelia Syndrome |
|
Microphthalmia |
OMIM:251230 |
Charge Syndrome |
|
Anophthalmia, Cataract, Unilateral microphthalmos, Coloboma, Retinal coloboma, Microphthalmia, Ir... |
OMIM:214800 |
Microphthalmia, Syndromic 6 |
|
Anophthalmia, Sclerocornea, Microcornea, Coloboma, Microphthalmia |
OMIM:607932 |
Branchiooculofacial Syndrome |
|
Anophthalmia, Cataract, Retinal coloboma, Microphthalmia, Iris coloboma |
OMIM:113620 |
Galloway-Mowat Syndrome 3 |
|
Microphthalmia |
OMIM:617729 |
Townes-Brocks Syndrome |
|
Cataract, Chorioretinal coloboma, Limbal dermoid, Microphthalmia, Iris coloboma |
ORPHA:857 |
Ohdo Syndrome, X-Linked |
|
Microphthalmia |
OMIM:300895 |
Meckel Syndrome, Type 1 |
|
Microphthalmia, Iris coloboma |
OMIM:249000 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Popliteal pterygium, Microphthalmia, Antecubital pterygium |
OMIM:609945 |
Meckel Syndrome 14 |
|
Microphthalmia |
OMIM:619879 |
Fanconi Anemia, Complementation Group F |
|
Microphthalmia |
OMIM:603467 |
Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Microphthalmia, Cyclopia |
ORPHA:2166 |
Fanconi Anemia, Complementation Group E |
|
Microphthalmia |
OMIM:600901 |
Fanconi Anemia, Complementation Group A |
|
Microphthalmia |
OMIM:227650 |
Teebi-Shaltout Syndrome |
|
Microphthalmia |
OMIM:272950 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Microphthalmia |
OMIM:616300 |
Witteveen-Kolk Syndrome |
|
Anisocoria, Microphthalmia, Cataract, Iris coloboma |
OMIM:613406 |
Pallister-Hall Syndrome |
|
Microphthalmia |
OMIM:146510 |
Roberts-Sc Phocomelia Syndrome |
|
Cataract, Corneal opacity, Coloboma, Opacification of the corneal stroma, Microphthalmia |
OMIM:268300 |
Fanconi Anemia, Complementation Group C |
|
Microphthalmia |
OMIM:227645 |
Microphthalmia With Limb Anomalies |
|
Microphthalmia, Optic atrophy, True anophthalmia |
ORPHA:1106 |
Microphthalmia, Syndromic 1 |
|
Anophthalmia, Optic disc coloboma, Microcornea, Ciliary body coloboma, Chorioretinal coloboma, Mi... |
OMIM:309800 |
Fraser Syndrome 1 |
|
Anophthalmia, Corneal opacity, Bilateral microphthalmos |
OMIM:219000 |
Holoprosencephaly 9 |
|
Microphthalmia, Anophthalmia, Optic nerve hypoplasia |
OMIM:610829 |
Fanconi Anemia, Complementation Group D2 |
|
Microphthalmia |
OMIM:227646 |
Microphthalmia, Syndromic 9 |
|
Anophthalmia, Bilateral microphthalmos |
OMIM:601186 |
Microgastria-Limb Reduction Defect Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2538 |
Isolated Arrhinia |
|
Microphthalmia |
ORPHA:1134 |
Fanconi Anemia, Complementation Group L |
|
Microphthalmia |
OMIM:614083 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Optic disc pallor, Bilateral microphthalmos, Optic nerve hypoplasia |
ORPHA:468631 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Microphthalmia |
OMIM:617925 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Iris atrophy, Cataract, Abnormal pupil morphology, Optic atrophy, Microcornea, Ectopia pupillae, ... |
ORPHA:261552 |
Fraser Syndrome 2 |
|
Microphthalmia |
OMIM:617666 |
Monosomy 9P |
|
Microphthalmia |
ORPHA:261112 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Cataract, Astigmatism, Retinal coloboma, Axenfeld anomaly, Microphthalmia, Iris coloboma |
ORPHA:261537 |
Degcags Syndrome |
|
Microphthalmia |
OMIM:619488 |
Mowat-Wilson Syndrome |
|
Cataract, Astigmatism, Retinal coloboma, Axenfeld anomaly, Microphthalmia, Iris coloboma |
ORPHA:2152 |
Holoprosencephaly 1 |
|
Microphthalmia, Cyclopia |
OMIM:236100 |
Fontaine Progeroid Syndrome |
|
Microphthalmia |
OMIM:612289 |
8Q24.3 Microdeletion Syndrome |
|
Bilateral microphthalmos, Retinal coloboma, Optic nerve hypoplasia |
ORPHA:508488 |
Fraser Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2052 |
Adams-Oliver Syndrome 1 |
|
Microphthalmia |
OMIM:100300 |
Pallister-Hall Syndrome |
|
Microphthalmia |
ORPHA:672 |
Craniofacial Microsomia 1 |
|
Limbal dermoid, Microphthalmia, Anophthalmia |
OMIM:164210 |
Hydrolethalus Syndrome 1 |
|
Microphthalmia |
OMIM:236680 |
Treacher Collins Syndrome 1 |
|
Bilateral microphthalmos |
OMIM:154500 |