| Hereditary Hyperferritinemia-Cataract Syndrome |
|
Cataract |
ORPHA:163 |
| Cataract 29 |
|
Cataract |
OMIM:115800 |
| Cataract 35 |
|
Cataract |
OMIM:609376 |
| Cataract 36 |
|
Cataract |
OMIM:613887 |
| 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 |
| Cataract 44 |
|
Developmental cataract |
OMIM:616509 |
| Hypertrophic Neuropathy And Cataract |
|
Cataract |
OMIM:239900 |
| Cataract And Congenital Ichthyosis |
|
Cataract |
OMIM:212400 |
| Cochleosaccular Degeneration With Progressive Cataracts |
|
Progressive cataract |
OMIM:120040 |
| Microphthalmia/Coloboma 3 |
|
Cataract, Iris coloboma, Microphthalmia |
OMIM:610092 |
| Microphthalmia/Coloboma 4 |
|
Microcornea, Coloboma, Microphthalmia |
OMIM:251505 |
| Microphthalmia, Isolated, With Cataract 1 |
|
Cataract, Microphthalmia |
OMIM:156850 |
| Nanophthalmos 1 |
|
Bilateral microphthalmos |
OMIM:600165 |
| Microphthalmia, Isolated 7 |
|
Microphthalmia |
OMIM:613704 |
| Nanophthalmos 2 |
|
Microphthalmia |
OMIM:609549 |
| Cataract 12, Multiple Types |
|
Progressive cataract, Developmental cataract |
OMIM:611597 |
| Anterior Segment Dysgenesis 8 |
|
Cataract, Ectopia lentis, Ectopia pupillae, Hypoplasia of the iris, Uveal ectropion, Corneal stro... |
OMIM:617319 |
| Microphthalmia/Coloboma 7 |
|
Inferior chorioretinal coloboma, Iris coloboma, Microphthalmia |
OMIM:614497 |
| Cataract 7 |
|
Developmental cataract |
OMIM:115660 |
| Microphthalmia, Isolated 2 |
|
Opacification of the corneal stroma, Microphthalmia |
OMIM:610093 |
| Trichomegaly |
|
Cataract |
OMIM:190330 |
| Cataract 42 |
|
Cataract, Developmental cataract |
OMIM:115900 |
| Glaucoma-Ectopia Lentis-Microspherophakia-Stiff Joints-Short Stature Syndrome |
|
Ectopia lentis |
ORPHA:2084 |
| Cataract 3, Multiple Types |
|
Developmental cataract, Sutural cataract, Nuclear pulverulent cataract, Cerulean cataract |
OMIM:601547 |
| Hydrocephaly-Cerebellar Agenesis Syndrome |
|
Cataract |
ORPHA:1397 |
| Aldh18A1-Related De Barsy Syndrome |
|
Cataract |
ORPHA:35664 |
| Cataract 10, Multiple Types |
|
Posterior Y-sutural cataract, Developmental cataract, Nuclear cataract, Zonular cataract |
OMIM:600881 |
| Cataract 11, Multiple Types |
|
Cataract, Developmental cataract, Microphthalmia |
OMIM:610623 |
| Corneal Dystrophy, Groenouw Type I |
|
Cataract, Punctate corneal dystrophy, Nodular corneal dystrophy, Granular corneal dystrophy |
OMIM:121900 |
| Pupillary Membrane, Persistence Of |
|
Persistent pupillary membrane, Developmental cataract, Megalocornea |
OMIM:178900 |
| Foveal Hypoplasia 1 |
|
Presenile cataracts, Hypoplasia of the fovea |
OMIM:136520 |
| Microphthalmia/Coloboma 10 |
|
Chorioretinal coloboma, Anophthalmia, Microcoria, Microphthalmia, Iris coloboma |
OMIM:616428 |
| Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy |
|
Juvenile cataract |
OMIM:212500 |
| Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome |
|
Cataract |
ORPHA:73245 |
| Corneal dystrophy, lisch epithelial |
|
Corneal dystrophy |
OMIM:300778 |
| Nathalie Syndrome |
|
Cataract |
ORPHA:2663 |
| Cataract 9, Multiple Types |
|
Cataract, Microcornea, Progressive cataract, Developmental cataract, Microphthalmia, Iris coloboma |
OMIM:604219 |
| Microphthalmia/Coloboma 6 |
|
Hypoplasia of the fovea, Coloboma, Optic disc hypoplasia, Bilateral microphthalmos |
OMIM:613703 |
| Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract |
|
Cataract, Aniridia, Microcornea |
OMIM:106230 |
| Cataract 14, Multiple Types |
|
Zonular cataract |
OMIM:601885 |
| Uncombable Hair Syndrome 2 |
|
Juvenile cataract |
OMIM:617251 |
| Cataract-Ataxia-Deafness-Retardation Syndrome |
|
Developmental cataract |
OMIM:212710 |
| Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities |
|
Cataract |
OMIM:300719 |
| X-Linked Retinoschisis |
|
Cataract |
ORPHA:792 |
| Cataract 40 |
|
Nuclear cataract, Sutural cataract |
OMIM:302200 |
| Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness |
|
Cataract, Chorioretinal coloboma |
OMIM:274205 |
| Anterior Segment Dysgenesis 2 |
|
Cataract, Microcornea, Peters anomaly, Posterior synechiae of the anterior chamber, Aniridia, Ant... |
OMIM:610256 |
| Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay |
|
Cataract, Developmental cataract |
OMIM:613076 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 3 |
|
Cataract |
ORPHA:79281 |
| Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Anophthalmia, Microphthalmia |
ORPHA:85275 |
| Microphthalmia/Coloboma 5 |
|
Chorioretinal coloboma, Bilateral microphthalmos, Anophthalmia, Microphthalmia, Iris coloboma |
OMIM:611638 |
| Cataract 20, Multiple Types |
|
Lamellar cataract, Nuclear cataract, Sutural cataract, Cortical cataract |
OMIM:116100 |
| Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Cataract, Iris coloboma, Chorioretinal coloboma, Microphthalmia |
OMIM:120433 |
| Aniridia-Intellectual Disability Syndrome |
|
Cataract, Aniridia, Ectopia lentis, Optic nerve hypoplasia |
ORPHA:1068 |
| Blindness-Scoliosis-Arachnodactyly Syndrome |
|
Lens subluxation, Cataract, Microphakia |
ORPHA:171844 |
| Cataract-Microcornea Syndrome |
|
Cataract, Microcornea, Corneal opacity, Iris coloboma, Corneal dystrophy |
ORPHA:1377 |
| Foveal Hypoplasia-Presenile Cataract Syndrome |
|
Cataract |
ORPHA:2253 |
| Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Microcornea, Chorioretinal coloboma, Remnants of the hyaloid vascular system, Microphthalmia, Pos... |
ORPHA:231736 |
| Genetic Hyperferritinemia Without Iron Overload |
|
Cataract |
ORPHA:254704 |
| Iris Pigment Layer, Cleavage Of |
|
Cataract |
OMIM:147610 |
| Spinocerebellar Degeneration With Macular Corneal Dystrophy, Congenital Cataracts, And Myopia |
|
Corneal dystrophy, Developmental cataract |
OMIM:271320 |
| Microphthalmia, Isolated 4 |
|
Coloboma, Microphthalmia |
OMIM:613094 |
| Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome |
|
Cataract, Aplasia/Hypoplasia of the lens |
ORPHA:1381 |
| Galactosemia Ii |
|
Cataract |
OMIM:230200 |
| Microphthalmia, Syndromic 16 |
|
Sclerocornea, Anophthalmia, Microphthalmia |
OMIM:611038 |
| Cataract 47 |
|
Cataract, Microcornea |
OMIM:612018 |
| Cataract 8, Multiple Types |
|
Nuclear cataract, Developmental cataract |
OMIM:115665 |
| Congenital Varicella Syndrome |
|
Cataract, Microphthalmia |
ORPHA:291 |
| Glaucoma 3, Primary Congenital, D |
|
Primary congenital glaucoma, Ectopia lentis, Corneal opacity |
OMIM:613086 |
| Galactosemia Iv |
|
Cataract |
OMIM:618881 |
| Neutropenia, Severe Congenital, 9, Autosomal Dominant |
|
Cataract |
OMIM:619813 |
| Hypoalphalipoproteinemia, Primary, 2 |
|
Cataract, Corneal arcus |
OMIM:618463 |
| Cataract 22, Multiple Types |
|
Nuclear cataract, Developmental cataract |
OMIM:609741 |
| Congenital Primary Aphakia |
|
Corneal perforation, Aniridia, Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segm... |
ORPHA:83461 |
| Foveal Hypoplasia 2 |
|
Astigmatism, Axenfeld anomaly, Hypoplasia of the fovea, Posterior embryotoxon, Microphthalmia |
OMIM:609218 |
| Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Microphthalmia, Microcornea, Corneal opacity |
ORPHA:2432 |
| Spastic Paraparesis And Deafness |
|
Cataract |
OMIM:312910 |
| Spinocerebellar Ataxia, Autosomal Recessive 24 |
|
Cataract |
OMIM:617133 |
| Proximal Myotonic Myopathy |
|
Cataract |
ORPHA:606 |
| Cataract 50 With Or Without Glaucoma |
|
Cataract, Persistent pupillary membrane |
OMIM:620253 |
| Anterior Segment Dysgenesis 7 |
|
Cataract, Microcornea, Anterior synechiae of the anterior chamber, Sclerocornea, Ocular anterior ... |
OMIM:269400 |
| Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism |
|
Cataract |
OMIM:254000 |
| Anterior Segment Dysgenesis 5 |
|
Microcornea, Peters anomaly, Hypoplasia of the iris, Rieger anomaly, Microphthalmia, Hypoplasia o... |
OMIM:604229 |
| Cataract 1, Multiple Types |
|
Microcornea, Nuclear cataract, Posterior subcapsular cataract, Pulverulent cataract |
OMIM:116200 |
| Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Peters anomaly, Coloboma, Ocular anterior segment dysgenesis, Microphthalmia, Iris coloboma |
OMIM:610023 |
| Microphthalmia, Isolated 1 |
|
Anophthalmia, Microphthalmia |
OMIM:251600 |
| Corneal Dystrophy, Posterior Polymorphous, 2 |
|
Corneal dystrophy, Corneal opacity |
OMIM:609140 |
| Premature Ovarian Failure 12 |
|
Microphthalmia |
OMIM:616947 |
| Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma |
|
Microspherophakia, Ectopia lentis, Megalocornea, Iridodonesis, Buphthalmos, Deep anterior chamber |
OMIM:251750 |
| Weill-Marchesani Syndrome 3 |
|
Microspherophakia, Shallow anterior chamber, Ectopia lentis |
OMIM:614819 |
| Isolated Aniridia |
|
Cataract, Aniridia, Peters anomaly, Aplasia/Hypoplasia of the macula |
ORPHA:250923 |
| Nathalie Syndrome |
|
Cataract |
OMIM:255990 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 4 |
|
Cataract |
OMIM:615412 |
| Cataract, Age-Related Nuclear |
|
Nuclear cataract |
OMIM:601371 |
| Cataract 18 |
|
Nuclear cataract |
OMIM:610019 |
| Cataract 41 |
|
Nuclear cataract |
OMIM:116400 |
| Autosomal Dominant Keratitis |
|
Cataract, Microcornea, Keratitis, Bilateral microphthalmos, Abnormal corneal limbus morphology, A... |
ORPHA:2334 |
| Aniridia 2 |
|
Lens subluxation, Cataract, Aniridia, Iris coloboma |
OMIM:617141 |
| Myopia 17, Autosomal Dominant |
|
Presenile cataracts |
OMIM:608367 |
| Microphthalmia, Isolated 6 |
|
Microcornea, Microphthalmia |
OMIM:613517 |
| Hypomyelination-Congenital Cataract Syndrome |
|
Developmental cataract |
ORPHA:85163 |
| Cataract-Nephropathy-Encephalopathy Syndrome |
|
Cataract |
ORPHA:1380 |
| Hemolytic Anemia Due To Glutathione Reductase Deficiency |
|
Cataract |
OMIM:618660 |
| Microphthalmia, Isolated, With Corectopia |
|
Ectopia pupillae, Microphthalmia |
OMIM:156900 |
| Xeroderma Pigmentosum, Complementation Group G |
|
Cataract, Microphthalmia |
OMIM:278780 |
| Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Cataract, Microcornea, Microphthalmia |
ORPHA:2528 |
| Cornea Plana 2, Autosomal Recessive |
|
Microphthalmia, Corneal opacity, Sclerocornea, Flat cornea, Corneal arcus, Decreased corneal thic... |
OMIM:217300 |
| Cataract-Deafness-Hypogonadism Syndrome |
|
Developmental cataract |
ORPHA:1383 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 3 |
|
Microphthalmia |
OMIM:616335 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type |
|
Cataract |
OMIM:300261 |
| Blepharoptosis, Myopia, And Ectopia Lentis |
|
Increased axial length of the globe, Ectopia lentis |
OMIM:110150 |
| Kyrle Disease |
|
Posterior subcapsular cataract |
OMIM:149500 |
| Cataract 43 |
|
Posterior subcapsular cataract |
OMIM:616279 |
| Optic Atrophy 3, Autosomal Dominant |
|
Cataract |
OMIM:165300 |
| Dysequilibrium Syndrome |
|
Cataract |
ORPHA:1766 |
| Gombo Syndrome |
|
Microphthalmia |
OMIM:233270 |
| Dermoids Of Cornea |
|
Corneal opacity |
OMIM:304730 |
| Aniridia And Absent Patella |
|
Cataract, Aniridia |
OMIM:106220 |
| Oculoauricular Syndrome |
|
Cataract, Microcornea, Posterior synechiae of the anterior chamber, Iris cyst, Macular hypoplasia... |
OMIM:612109 |
| Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Cataract, Chorioretinal coloboma, Posterior embryotoxon, Corneal opacity, Microphthalmia, Iris co... |
ORPHA:1473 |
| Microphthalmia, Syndromic 13 |
|
Microcornea, Iris coloboma, Chorioretinal coloboma, Microphthalmia |
OMIM:300915 |
| Facial Clefting, Oblique, 1 |
|
Coloboma, Microphthalmia |
OMIM:600251 |
| Coats Disease |
|
Cataract, Abnormal anterior chamber morphology, Aplasia/Hypoplasia of the iris |
ORPHA:190 |
| Glaucoma 3, Primary Infantile, B |
|
Primary congenital glaucoma |
OMIM:600975 |
| Myopia 28, Autosomal Recessive |
|
Cataract |
OMIM:619781 |
| Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1 |
|
Cataract, Microcornea |
OMIM:619082 |
| Aniridia 3 |
|
Cataract, Aniridia |
OMIM:617142 |
| Cataract 17, Multiple Types |
|
Microcornea, Nuclear cataract, Developmental cataract, Pulverulent cataract |
OMIM:611544 |
| Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Coloboma, Ocular anterior segment dysgenesis, Developmental cataract, Microphthalmia |
ORPHA:324416 |
| Bardet-Biedl Syndrome 18 |
|
Cataract |
OMIM:615995 |
| Cataract 39, Multiple Types |
|
Lamellar cataract, Developmental cataract, Anterior polar cataract |
OMIM:615188 |
| Anterior Segment Dysgenesis 3 |
|
Peters anomaly, Ectopia pupillae, Rieger anomaly, Abnormal iris vasculature, Axenfeld anomaly, Po... |
OMIM:601631 |
| Nance-Horan Syndrome |
|
Posterior Y-sutural cataract, Microcornea, Developmental cataract, Microphthalmia |
OMIM:302350 |
| Cataract 21, Multiple Types |
|
Iris coloboma, Microcornea, Peters anomaly, Cerulean cataract, Macular hypoplasia, Corneal opacit... |
OMIM:610202 |
| Leber Congenital Amaurosis 7 |
|
Cataract, Keratoconus |
OMIM:613829 |
| Cataract 5, Multiple Types |
|
Nuclear cataract, Pulverulent cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract |
OMIM:116800 |
| Exfoliation Syndrome |
|
Cataract, Mydriasis, Pseudoexfoliation, Abnormal lens morphology, Phakodonesis, Pigment depositio... |
OMIM:177650 |
| Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
Microphthalmia |
OMIM:251700 |
| Spondylo-Ocular Syndrome |
|
Iris hypopigmentation, Cataract, Aplasia/Hypoplasia of the lens, Microphthalmia |
ORPHA:85194 |
| Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome |
|
Microphthalmia, Cataract, Retinal coloboma |
OMIM:601794 |
| Cataract 32, Multiple Types |
|
Anterior polar cataract |
OMIM:115650 |
| Cataract 23, Multiple Types |
|
Lamellar cataract, Microcornea, Nuclear cataract |
OMIM:610425 |
| Spastic Paraparesis-Deafness Syndrome |
|
Cataract |
ORPHA:2815 |
| Retinitis Pigmentosa 40 |
|
Cataract |
OMIM:613801 |
| Megalocornea |
|
Cataract, Deep anterior chamber, Megalocornea, Lens subluxation, Astigmatism, Iridodonesis, Iris ... |
OMIM:309300 |
| Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Cataract, Persistent pupillary membrane, Aplasia/Hypoplasia of the iris, Corneal opacity |
ORPHA:1067 |
| Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Microphthalmia, Cataract, Retinal coloboma |
ORPHA:363741 |
| Anterior Segment Dysgenesis 1 |
|
Posterior polar cataract, Microcornea, Peters anomaly, Ocular anterior segment dysgenesis, Opacif... |
OMIM:107250 |
| Peters Anomaly |
|
Peters anomaly, Thinning of Descemet membrane, Subcapsular cataract, Anterior synechiae of the an... |
ORPHA:708 |
| Ectopia Lentis Et Pupillae |
|
Cataract, Ectopia lentis, Ectopia pupillae, Iris transillumination defect, Persistent pupillary m... |
OMIM:225200 |
| Cataract 2, Multiple Types |
|
Microcornea, Nuclear cataract, Nuclear pulverulent cataract, Developmental cataract, Aculeiform c... |
OMIM:604307 |
| Cataract 31, Multiple Types |
|
Posterior subcapsular cataract, Anterior subcapsular cataract, Nuclear cataract |
OMIM:605387 |
| Thanatophoric Dysplasia, Glasgow Variant |
|
Cataract |
OMIM:273680 |
| Cataract 30, Multiple Types |
|
Posterior polar cataract, Diffuse nuclear cataract, Pulverulent cataract |
OMIM:116300 |
| Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Cataract, Chorioretinal coloboma, Corneal scarring, Microphthalmia, Buphthalmos, Iris coloboma |
OMIM:212550 |
| Nanophthalmos |
|
Microphthalmia |
ORPHA:35612 |
| Nanophthalmos 4 |
|
Microphthalmia |
OMIM:615972 |
| 2Q24 Microdeletion Syndrome |
|
Cataract, Coloboma, Abnormality iris morphology, Microphthalmia |
ORPHA:1617 |
| Leg, Absence Deformity Of, With Congenital Cataract |
|
Progressive cataract, Developmental cataract |
OMIM:246000 |
| Cornea Guttata With Anterior Polar Cataracts |
|
Anterior polar cataract |
OMIM:121390 |
| Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma |
|
Shallow anterior chamber, Microphthalmia |
OMIM:267760 |
| Idiopathic Uveal Effusion Syndrome |
|
Abnormal anterior eye segment morphology, Microphthalmia |
ORPHA:209956 |
| Microphthalmia, Isolated 5 |
|
Cataract, Microphthalmia |
OMIM:611040 |
| Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome |
|
Cataract |
ORPHA:2278 |
| Leber Congenital Amaurosis 6 |
|
Cataract, Keratoconus |
OMIM:613826 |
| Cataract 15, Multiple Types |
|
Lamellar cataract, Nuclear cataract, Cortical cataract |
OMIM:615274 |
| Cataract 33, Multiple Types |
|
Lamellar cataract, Nuclear cataract, Cortical cataract |
OMIM:611391 |
| Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Microphthalmia |
ORPHA:1574 |
| Cochleosaccular Degeneration-Cataract Syndrome |
|
Cataract |
ORPHA:3233 |
| Autosomal Recessive Spastic Paraplegia Type 69 |
|
Cataract |
ORPHA:401830 |
| Insulinomatosis And Diabetes Mellitus |
|
Developmental glaucoma, Developmental cataract |
OMIM:147630 |
| Hypogonadism-Cataract Syndrome |
|
Cataract |
OMIM:240950 |
| Cataract 24 |
|
Anterior lenticonus, Anterior polar cataract |
OMIM:601202 |
| Edict Syndrome |
|
Keratoconus, Microcornea, Hypoplasia of the iris, Astigmatism, Anterior polar cataract |
OMIM:614303 |
| Cataract 48 |
|
Cataract |
OMIM:618415 |
| Cataract 6, Multiple Types |
|
Posterior polar cataract, Developmental cataract |
OMIM:116600 |
| Bilateral Acute Depigmentation Of The Iris |
|
Abnormal corneal endothelium morphology, Pigment deposition in the trabecular meshwork, Abnormal ... |
ORPHA:69736 |
| Leukoencephalopathy With Vanishing White Matter 2 |
|
Cataract |
OMIM:620312 |
| Stickler Syndrome Type 2 |
|
Cataract, Corneal opacity |
ORPHA:90654 |
| Biemond Syndrome Type 2 |
|
Coloboma, Microphthalmia |
ORPHA:141333 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3 |
|
Cataract |
OMIM:609115 |
| Microphthalmia/Coloboma 12 |
|
Peters anomaly, Optic disc coloboma, Chorioretinal coloboma, Optic nerve aplasia, Remnants of the... |
OMIM:120200 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Cataract, Microcornea, Microphthalmia |
OMIM:616171 |
| Chromosome 11P13 Deletion Syndrome, Distal |
|
Aniridia |
OMIM:616902 |
| Anterior Segment Dysgenesis 4 |
|
Iris hypopigmentation, Hypoplastic iris stroma |
OMIM:137600 |
| Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome |
|
Cataract, Corneal dystrophy |
ORPHA:1369 |
| Microphthalmia, Isolated 8 |
|
Retinal coloboma, True anophthalmia, Anophthalmia, Microphthalmia, Optic nerve hypoplasia |
OMIM:615113 |
| Norrie Disease |
|
Cataract, Hypoplasia of the iris, Opacification of the corneal stroma, Leukocoria, Corneal opacit... |
OMIM:310600 |
| Myopia, High, With Cataract And Vitreoretinal Degeneration |
|
Lens subluxation, Cataract |
OMIM:614292 |
| Nail-Patella Syndrome |
|
Keratoconus, Microcornea, Cataract, Lester's sign, Antecubital pterygium, Microphakia |
OMIM:161200 |
| Cat-Eye Syndrome |
|
Iris coloboma, Chorioretinal coloboma, Microphthalmia |
ORPHA:195 |
| Oculopalatocerebral Syndrome |
|
Leukocoria, Remnants of the hyaloid vascular system, Microphthalmia |
OMIM:257910 |
| Otodental Syndrome |
|
Cataract, Microcornea, Microphthalmia, Lens coloboma, Iris coloboma |
ORPHA:2791 |
| Morm Syndrome |
|
Cataract |
ORPHA:75858 |
| Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Cataract, Microcornea, Posterior synechiae of the anterior chamber, Persistent pupillary membrane... |
OMIM:221900 |
| Persistent Hyperplastic Primary Vitreous |
|
Cataract, Microcornea, Hyaloid vascular remnant and retrolental mass, Persistent pupillary membra... |
ORPHA:91495 |
| Ectopia Lentis 1, Isolated, Autosomal Dominant |
|
Microspherophakia, Shallow anterior chamber, Ectopia lentis |
OMIM:129600 |
| Dihydropyrimidine Dehydrogenase Deficiency |
|
Coloboma, Microphthalmia |
OMIM:274270 |
| Absence Deformity Of Leg-Cataract Syndrome |
|
Cataract |
ORPHA:2310 |
| Microphthalmia, Syndromic 5 |
|
Cataract, Microcornea, Anophthalmia, Coloboma, Microphthalmia, Optic nerve hypoplasia |
OMIM:610125 |
| Cataract 16, Multiple Types |
|
Posterior polar cataract, Lenticonus, Developmental cataract |
OMIM:613763 |
| Upper Limb Defect-Eye And Ear Abnormalities Syndrome |
|
Cataract, Chorioretinal coloboma |
ORPHA:2489 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Cataract, Microphthalmia |
OMIM:251270 |
| Microphthalmia With Brain And Digit Anomalies |
|
Cataract, Microcornea, Chorioretinal coloboma, Anophthalmia, Microphthalmia, Sclerocornea, Iris c... |
ORPHA:139471 |
| Retinitis Pigmentosa 9 |
|
Cataract |
OMIM:180104 |
| X-Linked Endothelial Corneal Dystrophy |
|
Nuclear cataract, Band keratopathy, Abnormal corneal endothelium morphology, Corneal opacity |
ORPHA:293621 |
| Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts |
|
Cataract |
OMIM:183800 |
| Vitreoretinal Degeneration, Snowflake Type |
|
Corneal guttata, Cataract |
OMIM:193230 |
| Kahrizi Syndrome |
|
Cataract, Iris coloboma |
OMIM:612713 |
| Retinal Dystrophy And Iris Coloboma With Or Without Cataract |
|
Iris coloboma, Posterior synechiae of the anterior chamber, Developmental cataract |
OMIM:616722 |
| Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Cataract, Microphthalmia |
OMIM:613730 |
| Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome |
|
Cataract |
OMIM:610156 |
| Coloboma, Ocular, Autosomal Recessive |
|
Cataract, Optic disc coloboma, Retinal coloboma, Lens subluxation, Iris coloboma |
OMIM:216820 |
| Supernumerary Nostril |
|
Microcornea, Developmental cataract |
ORPHA:141096 |
| Hyperferritinemia With Or Without Cataract |
|
Cataract, Nuclear cataract, Anterior subcapsular cataract, Pulverulent cataract |
OMIM:600886 |
| Amoebic Keratitis |
|
Cataract, Corneal perforation, Abnormal cornea morphology, Punctate opacification of the cornea, ... |
ORPHA:67043 |
| Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Cataract |
OMIM:614876 |
| Cofs Syndrome |
|
Cataract, Microphthalmia |
ORPHA:1466 |
| Cataract-Aberrant Oral Frenula-Growth Delay Syndrome |
|
Cataract |
ORPHA:1373 |
| Microphthalmia/Coloboma 9 |
|
Microcornea, Ocular anterior segment dysgenesis, Microphthalmia, Sclerocornea, Iris coloboma, Mac... |
OMIM:615145 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Cataract, Optic nerve hypoplasia, Microphthalmia |
OMIM:615181 |
| Microphthalmia, Syndromic 8 |
|
Microcornea, Microphthalmia |
OMIM:601349 |
| Leber Congenital Amaurosis 16 |
|
Cataract |
OMIM:614186 |
| Nance-Horan Syndrome |
|
Cataract, Microcornea, Microphthalmia |
ORPHA:627 |
| Cerebrooculofacioskeletal Syndrome 3 |
|
Microphthalmia |
OMIM:616570 |
| Retinitis Pigmentosa 84 |
|
Cataract, Macular coloboma |
OMIM:618220 |
| Hydrocephalus, Endocardial Fibroelastosis, And Cataracts |
|
Developmental cataract |
OMIM:600559 |
| WAGR 11p13 deletion syndrome |
|
Aniridia |
DECIPHER:35 |
| Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of |
|
Sutural cataract |
OMIM:201470 |
| Aniridia-Absent Patella Syndrome |
|
Cataract, Aniridia |
ORPHA:1069 |
| Cardiomyopathy, Dilated, 1Ii |
|
Cataract |
OMIM:615184 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Developmental cataract, Microphthalmia |
OMIM:613155 |
| Mmep Syndrome |
|
Microphthalmia |
ORPHA:3434 |
| Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 2 |
|
Cataract |
OMIM:620425 |
| Cerebrooculofacioskeletal Syndrome 2 |
|
Cataract, Developmental cataract, Microphthalmia |
OMIM:610756 |
| X-Linked Immunoneurologic Disorder |
|
Cataract |
ORPHA:2571 |
| Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Cataract, Microphthalmia |
OMIM:618805 |
| Wagner Vitreoretinopathy |
|
Cataract |
OMIM:143200 |
| Stickler Syndrome, Type V |
|
Cataract |
OMIM:614284 |
| Long-Olsen-Distelmaier Syndrome |
|
Cataract, Microspherophakia, Optic nerve hypoplasia |
OMIM:620609 |
| Developmental Delay With Variable Neurologic And Brain Abnormalities |
|
Cataract, Astigmatism, Microphthalmia |
OMIM:619694 |
| Lissencephaly 8 |
|
Cataract, Microphthalmia |
OMIM:617255 |
| Temtamy Syndrome |
|
Iris coloboma, Chorioretinal coloboma, Microphthalmia |
ORPHA:1777 |
| Galactose Epimerase Deficiency |
|
Cataract |
ORPHA:79238 |
| Usher Syndrome Type 3 |
|
Iris hypopigmentation, Cataract, Astigmatism |
ORPHA:231183 |
| Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Cataract, Microcornea, Microphthalmia |
ORPHA:48431 |
| Aniridia, Partial, With Unilateral Renal Agenesis And Psychomotor Retardation |
|
Aniridia, Developmental glaucoma |
OMIM:206750 |
| Pelvis-Shoulder Dysplasia |
|
Opacification of the corneal stroma, Iris coloboma, Optic disc coloboma, Microphthalmia |
OMIM:169550 |
| Kniest Dysplasia |
|
Aplasia/Hypoplasia of the lens, Cataract, Lens luxation |
ORPHA:485 |
| Rodrigues Blindness |
|
Sclerocornea, Microcornea, Microphthalmia |
OMIM:268320 |
| Peroxisome Biogenesis Disorder 11B |
|
Cataract |
OMIM:614885 |
| Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Cataract, Microcornea, Coloboma, Microphthalmia, Iris transillumination defect |
OMIM:617306 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Microphthalmia |
OMIM:614830 |
| Galactose Mutarotase Deficiency |
|
Cataract |
ORPHA:570422 |
| Adams-Oliver Syndrome 4 |
|
Microphthalmia |
OMIM:615297 |
| Cahmr Syndrome |
|
Lamellar cataract |
OMIM:211770 |
| Warburg Micro Syndrome 1 |
|
Microcornea, Developmental cataract, Microphthalmia |
OMIM:600118 |
| Bartsocas-Papas Syndrome 2 |
|
Axillary pterygium, Popliteal pterygium, Corneal opacity, Microphthalmia, Antecubital pterygium |
OMIM:619339 |
| Martsolf Syndrome 2 |
|
Cataract, Developmental cataract |
OMIM:619420 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Microphthalmia, Cataract, Coloboma, Corneal opacity |
OMIM:613153 |
| Vitreoretinochoroidopathy |
|
Microphthalmia, Microcornea, Developmental cataract, Pulverulent cataract |
OMIM:193220 |
| Congenital Rubella Syndrome |
|
Cataract, Aplasia/Hypoplasia of the iris, Corneal opacity, Microphthalmia |
ORPHA:290 |
| Fryns Microphthalmia Syndrome |
|
Anophthalmia, Microphthalmia |
OMIM:600776 |
| Anterior Segment Dysgenesis 6 |
|
Posterior synechiae of the anterior chamber, Abnormal Descemet membrane morphology, Corneal neova... |
OMIM:617315 |
| Ectodermal Dysplasia-Blindness Syndrome |
|
Cataract, Microcornea, Keratoconjunctivitis sicca, Microphthalmia, Sclerocornea, Corneal dystrophy |
ORPHA:1806 |
| Retinitis Pigmentosa 4 |
|
Cataract |
OMIM:613731 |
| Dermatitis, Atopic |
|
Conjunctivitis, Keratoconus, Cataract |
OMIM:603165 |
| Morning Glory Disc Anomaly |
|
Cataract, Optic disc coloboma |
ORPHA:35737 |
| Joubert Syndrome 22 |
|
Coloboma, Microphthalmia |
OMIM:615665 |
| Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Lens coloboma, Microphthalmia |
OMIM:618914 |
| Craniotelencephalic Dysplasia |
|
Optic nerve hypoplasia, Microphthalmia |
OMIM:218670 |
| Achromatopsia 3 |
|
Cataract |
OMIM:262300 |
| Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Cataract, Microphthalmia |
ORPHA:93267 |
| Isolated Ectopia Lentis |
|
Cataract, Ectopia lentis, Ectopia pupillae |
ORPHA:1885 |
| Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1 |
|
Cataract, Microphthalmia |
OMIM:301108 |
| Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Cataract, Microcornea, Ectopia pupillae, Anophthalmia, Coloboma, Microphthalmia, Sclerocornea |
OMIM:615877 |
| Cataracts, Spastic Paraparesis, And Speech Delay |
|
Cataract |
OMIM:619338 |
| Leber Congenital Amaurosis 8 |
|
Cataract, Keratoconus, Macular coloboma |
OMIM:613835 |
| Temtamy Syndrome |
|
Ectopia lentis, Chorioretinal coloboma, Microphthalmia, Iris coloboma, Lens luxation |
OMIM:218340 |
| Oculogastrointestinal Neurodevelopmental Syndrome |
|
Unilateral microphthalmos, Coloboma, Bilateral microphthalmos |
OMIM:619318 |
| Aniridia 1 |
|
Cataract, Ectopia lentis, Hypoplasia of the iris, Ectopia pupillae, Aniridia, Corneal neovascular... |
OMIM:106210 |
| Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
|
Cataract, Microcornea, Myopic astigmatism, Astigmatism, Corneal opacity, Microphthalmia |
OMIM:152950 |
| Fanconi Anemia, Complementation Group J |
|
Microphthalmia |
OMIM:609054 |
| Microphthalmia, Syndromic 12 |
|
Anophthalmia, Microphthalmia |
OMIM:615524 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Microphthalmia |
OMIM:615771 |
| Fanconi Anemia, Complementation Group G |
|
Microphthalmia |
OMIM:614082 |
| Wagr Syndrome |
|
Cataract, Aplasia/Hypoplasia of the iris |
ORPHA:893 |
| Neurooculocardiogenitourinary Syndrome |
|
Coloboma, Peters anomaly, Microphthalmia |
OMIM:618652 |
| Frontofacionasal Dysplasia |
|
Cataract, Microcornea, Limbal dermoid, Microphthalmia, Brushfield spots, Iris coloboma |
ORPHA:1791 |
| Craniotelencephalic Dysplasia |
|
Septo-optic dysplasia, Microphthalmia |
ORPHA:1528 |
| Pierpont Syndrome |
|
Microcornea, Microphthalmia |
ORPHA:487825 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Cataract, Coloboma, Abnormally large globe, Microphthalmia |
OMIM:615249 |
| Frontonasal Dysplasia 1 |
|
Cataract, Coloboma, Microphthalmia |
OMIM:136760 |
| Leber Congenital Amaurosis |
|
Cataract, Keratoconus |
ORPHA:65 |
| Cryptophthalmos, Unilateral Or Bilateral, Isolated |
|
Microphthalmia |
OMIM:123570 |
| Congenital Disorder Of Glycosylation, Type Iq |
|
Cataract, Coloboma, Microphthalmia |
OMIM:612379 |
| Nasopalpebral Lipoma-Coloboma Syndrome |
|
Cataract, Bilateral microphthalmos, Conjunctival hyperemia, Coloboma, Corneal opacity, Microphtha... |
ORPHA:2399 |
| Chromosome 17Q12 Duplication Syndrome |
|
Peters anomaly, Microphthalmia |
OMIM:614526 |
| Xk Aprosencephaly Syndrome |
|
Microphthalmia |
ORPHA:3469 |
| Weill-Marchesani Syndrome |
|
Cataract, Ectopia lentis |
ORPHA:3449 |
| Microphthalmia, Syndromic 11 |
|
Microphthalmia |
OMIM:614402 |
| Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia |
|
Cataract |
ORPHA:1366 |
| Stiff Skin Syndrome |
|
Cataract |
OMIM:184900 |
| Pierpont Syndrome |
|
Microcornea, Microphthalmia |
OMIM:602342 |
| Nasopalpebral Lipoma-Coloboma Syndrome |
|
Conjunctival hyperemia, Coloboma, Microphthalmia |
OMIM:167730 |
| Woolly Hair |
|
Cataract, Abnormal pupil morphology |
ORPHA:170 |
| Cardiomyopathy-Cataract-Hip Spine Disease Syndrome |
|
Cataract |
ORPHA:1345 |
| Xeroderma Pigmentosum, Complementation Group D |
|
Cataract, Keratitis, Corneal neovascularization, Keratoconjunctivitis sicca, Microphthalmia, Conj... |
OMIM:278730 |
| Baraitser-Winter Syndrome 2 |
|
Coloboma, Microphthalmia |
OMIM:614583 |
| Curry-Jones Syndrome |
|
Iris coloboma, Optic disc coloboma, Microphthalmia |
ORPHA:1553 |
| Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Sclerocornea, Iris coloboma, Anophthalmia, Microphthalmia |
ORPHA:77298 |
| Craniolenticulosutural Dysplasia |
|
Posterior Y-sutural cataract |
ORPHA:50814 |
| 3Q29 Microduplication Syndrome |
|
Cataract, Aniridia, Microphthalmia, Sclerocornea, Iris coloboma |
ORPHA:251038 |
| Cataract 49 |
|
Posterior cortical cataract |
OMIM:619593 |
| Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Cataract, Abnormality iris morphology, Megalocornea, Coloboma, Microphthalmia, Optic nerve hypopl... |
ORPHA:370959 |
| Phace Syndrome |
|
Cataract, Heterochromia iridis, Microphthalmia, Sclerocornea, Lens coloboma, Iris coloboma, Optic... |
ORPHA:42775 |
| Solitary Median Maxillary Central Incisor |
|
Cyclopia, Coloboma, Anophthalmia, Microphthalmia |
OMIM:147250 |
| Craniolenticulosutural Dysplasia |
|
Posterior Y-sutural cataract, Punctate cataract |
OMIM:607812 |
| Weill-Marchesani Syndrome 1 |
|
Cataract, Microspherophakia, Shallow anterior chamber, Ectopia lentis |
OMIM:277600 |
| Osteoporosis-Pseudoglioma Syndrome |
|
Microphthalmia, Corneal opacity |
ORPHA:2788 |
| Oculocerebrocutaneous Syndrome |
|
Anophthalmia, Microphthalmia |
OMIM:164180 |
| Traboulsi Syndrome |
|
Cataract, Ectopia lentis, Phakodonesis, Microphthalmia, Iris atrophy, Spherophakia, Anterior syne... |
OMIM:601552 |
| Hereditary Leiomyomatosis And Renal Cell Cancer |
|
Cataract |
ORPHA:523 |
| Histiocytoid Cardiomyopathy |
|
Microphthalmia, Congenital aphakia, Corneal opacity, Megalocornea |
ORPHA:137675 |
| Arrhinia-Choanal Atresia-Microphthalmia Syndrome |
|
Microphthalmia |
ORPHA:1135 |
| Iridocorneal Endothelial Syndrome |
|
Posterior synechiae of the anterior chamber, Central heterochromia, Ectopia pupillae, Abnormal mi... |
ORPHA:64734 |
| Norrie Disease |
|
Cataract, Ectopia lentis, Hypoplasia of the iris, Abnormal pupil morphology, Corneal opacity, Apl... |
ORPHA:649 |
| Adams-Oliver Syndrome 2 |
|
Developmental cataract, Microphthalmia |
OMIM:614219 |
| Warburg Micro Syndrome 3 |
|
Cataract, Microcornea, Developmental cataract, Microphthalmia, Shallow anterior chamber |
OMIM:614222 |
| Bresek Syndrome |
|
Optic nerve hypoplasia, Iris coloboma, Microphthalmia |
ORPHA:85284 |
| Exudative Vitreoretinopathy 2, X-Linked |
|
Shallow anterior chamber, Microphthalmia |
OMIM:305390 |
| Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development |
|
Cataract, Band keratopathy |
OMIM:604278 |
| Warburg Micro Syndrome 2 |
|
Cataract, Microcornea, Developmental cataract, Microphthalmia |
OMIM:614225 |
| Monilethrix |
|
Cataract |
ORPHA:573 |
| Trichothiodystrophy 3, Photosensitive |
|
Cataract, Developmental cataract, Microphthalmia |
OMIM:616395 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Cataract, Buphthalmos, Microphthalmia |
OMIM:616538 |
| Peroxisome Biogenesis Disorder 10B |
|
Cataract |
OMIM:617370 |
| Trisomy 13 |
|
Cataract, Aplasia/Hypoplasia of the iris, Anophthalmia, Microphthalmia, Iris coloboma |
ORPHA:3378 |
| Congenital Fibrinogen Deficiency |
|
Developmental cataract, Microphthalmia |
ORPHA:335 |
| Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Cataract, Microphthalmia |
OMIM:614105 |
| Sandestig-Stefanova Syndrome |
|
Developmental cataract, Microphthalmia |
OMIM:618804 |
| Tetraamelia-Multiple Malformations Syndrome |
|
Cataract, Microcornea, Iris coloboma, Microphthalmia, Septo-optic dysplasia |
ORPHA:3301 |
| Rere-Related Neurodevelopmental Syndrome |
|
Peters anomaly, Chorioretinal coloboma, Astigmatism, Microphthalmia, Iris coloboma |
ORPHA:494344 |
| Oculofaciocardiodental Syndrome |
|
Cataract, Microcornea, Ectopia lentis, Microphthalmia, Iris coloboma |
ORPHA:2712 |
| Weill-Marchesani Syndrome 2 |
|
Cataract, Microspherophakia, Ectopia lentis, Astigmatism, Iridodonesis, Shallow anterior chamber,... |
OMIM:608328 |
| Kapur-Toriello Syndrome |
|
Microphthalmia, Iris coloboma, Retinal coloboma |
ORPHA:2328 |
| Oculo-Palato-Cerebral Syndrome |
|
Cataract, Leukocoria, Remnants of the hyaloid vascular system, Microphthalmia |
ORPHA:2714 |
| Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Cataract, Sutural cataract, Nuclear pulverulent cataract, Microphthalmia |
OMIM:612474 |
| Cerebrooculofacioskeletal Syndrome 1 |
|
Cataract, Microphthalmia |
OMIM:214150 |
| Stromme Syndrome |
|
Cataract, Microcornea, Peters anomaly, Microphthalmia, Sclerocornea, Iris coloboma, Optic nerve h... |
OMIM:243605 |
| Gyrate Atrophy Of Choroid And Retina |
|
Cataract, Subcapsular cataract |
ORPHA:414 |
| Meckel Syndrome, Type 8 |
|
Anophthalmia, Microphthalmia |
OMIM:613885 |
| Deafness, X-Linked 7 |
|
Unilateral microphthalmos |
OMIM:301018 |
| Familial Exudative Vitreoretinopathy |
|
Cataract, Microphthalmia |
ORPHA:891 |
| Congenital Toxoplasmosis |
|
Microphthalmia |
ORPHA:858 |
| Braddock-Carey Syndrome 2 |
|
Microphthalmia |
OMIM:619981 |
| Ifap Syndrome 2 |
|
Cataract, Keratoconjunctivitis sicca, Keratitis |
OMIM:619016 |
| Warburg Micro Syndrome 4 |
|
Microcornea, Developmental cataract, Microphthalmia |
OMIM:615663 |
| Walker-Warburg Syndrome |
|
Cataract, Microcornea, Anophthalmia, Corneal opacity, Microphthalmia, Iris coloboma |
ORPHA:899 |
| Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies |
|
Microphthalmia, Cataract, Astigmatism, Retinal coloboma |
OMIM:618571 |
| Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Microphthalmia, Cataract, Astigmatism, Ectopia pupillae |
OMIM:618727 |
| Hypoparathyroidism, Familial Isolated, 1 |
|
Cataract |
OMIM:146200 |
| Premature Aging Syndrome, Okamoto Type |
|
Cataract |
OMIM:601811 |
| Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Cataract, Microphthalmia |
ORPHA:163649 |
| Microphthalmia, Lenz Type |
|
Cataract, Microcornea, Optic disc coloboma, Chorioretinal coloboma, Microphthalmia, Iris coloboma |
ORPHA:568 |
| Hartsfield Syndrome |
|
Microphthalmia |
ORPHA:2117 |
| Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Microphthalmia |
OMIM:602501 |
| Pierson Syndrome |
|
Cataract, Hypoplasia of the iris, Rieger anomaly, Uveal ectropion, Hypoplasia of the ciliary body... |
OMIM:609049 |
| Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Microphthalmia |
ORPHA:2547 |
| Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Cataract, Corneal erosion |
OMIM:614878 |
| Alport Syndrome 2, Autosomal Recessive |
|
Cataract, Anterior lenticonus, Corneal erosion |
OMIM:203780 |
| Kapur-Toriello Syndrome |
|
Microphthalmia, Cataract, Iris coloboma, Retinal coloboma |
OMIM:244300 |
| Developmental And Epileptic Encephalopathy 1 |
|
Microphthalmia |
OMIM:308350 |
| Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Microphthalmia |
OMIM:300887 |
| Stevenson-Carey Syndrome |
|
Coloboma, Microphthalmia |
OMIM:611961 |
| Gracile Bone Dysplasia |
|
Aniridia, Microphthalmia |
OMIM:602361 |
| Refsum Disease |
|
Cataract, Microphthalmia |
ORPHA:773 |
| Frontonasal Dysplasia 3 |
|
Microphthalmia |
OMIM:613456 |
| Baraitser-Winter Syndrome 1 |
|
Iris coloboma, Chorioretinal coloboma, Microphthalmia |
OMIM:243310 |
| 8Q21.11 Microdeletion Syndrome |
|
Iris hypopigmentation, Cataract, Corneal opacity, Microphthalmia, Sclerocornea |
ORPHA:284160 |
| Chromosome 16Q12 Duplication Syndrome |
|
Cataract, Anisocoria |
OMIM:619649 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Cataract, Peters anomaly, Microphthalmia, Buphthalmos, Persistent pupillary membrane |
OMIM:613150 |
| Micro Syndrome |
|
Microphthalmia, Cataract, Microcornea, Retinal coloboma |
ORPHA:2510 |
| Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant |
|
Conjunctivitis, Cataract, Keratitis |
OMIM:612843 |
| 17Q12 Microduplication Syndrome |
|
Microphthalmia |
ORPHA:261272 |
| Manitoba Oculotrichoanal Syndrome |
|
Corneopalpebral synechiae, Anophthalmia, Microphthalmia |
OMIM:248450 |
| Xeroderma Pigmentosum, Complementation Group B |
|
Cataract, Microphthalmia |
OMIM:610651 |
| Microphthalmia-Brain Atrophy Syndrome |
|
Bilateral microphthalmos |
ORPHA:77299 |
| Encephalocraniocutaneous Lipomatosis |
|
Sclerocornea, Hypoplasia of the iris, Limbal dermoid, Microphthalmia |
OMIM:613001 |
| Frontorhiny |
|
Cataract, Iris coloboma, Microphthalmia |
ORPHA:391474 |
| Familial Isolated Hypoparathyroidism |
|
Cataract |
ORPHA:2238 |
| Fuchs Heterochromic Iridocyclitis |
|
Cataract, Corneal keratic precipitates, Iris atrophy, Heterochromia iridis, Anterior chamber infl... |
ORPHA:263479 |
| Enhanced S-Cone Syndrome |
|
Cataract |
OMIM:268100 |
| Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Cataract, Iris coloboma, Anophthalmia, Microphthalmia |
ORPHA:2250 |
| Phace Association |
|
Optic nerve hypoplasia, Developmental cataract, Microphthalmia |
OMIM:606519 |
| Exudative Vitreoretinopathy 6 |
|
Cataract, Nuclear cataract, Cortical cataract |
OMIM:616468 |
| Trichothiodystrophy 4, Nonphotosensitive |
|
Microcornea, Keratoconjunctivitis sicca, Microphthalmia |
OMIM:234050 |
| Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Optic nerve hypoplasia, Microphthalmia |
OMIM:614833 |
| Seckel Syndrome 2 |
|
Microphthalmia |
OMIM:606744 |
| X-Linked Dominant Chondrodysplasia Punctata |
|
Cataract, Microcornea, Microphthalmia |
ORPHA:35173 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Cataract, Peters anomaly, Remnants of the hyaloid vascular system, Microphthalmia, Optic nerve hy... |
OMIM:614643 |
| Oculotrichoanal Syndrome |
|
Anophthalmia, Microphthalmia |
ORPHA:2717 |
| Microphthalmia, Syndromic 3 |
|
Cataract, Optic nerve aplasia, Anophthalmia, Coloboma, Microphthalmia, Sclerocornea, Optic nerve ... |
OMIM:206900 |
| Ring Chromosome 10 Syndrome |
|
Microphthalmia |
ORPHA:1438 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Cataract, Microcornea, Microphthalmia |
OMIM:616449 |
| Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Ectopia pupillae, Coloboma, Corneal opacity, Microphthalmia, Lens subluxation |
ORPHA:85167 |
| Oculodentodigital Dysplasia, Autosomal Recessive |
|
Cataract, Microcornea, Persistent pupillary membrane, Microphthalmia |
OMIM:257850 |
| Fanconi Anemia, Complementation Group I |
|
Optic nerve hypoplasia, Astigmatism, Microphthalmia |
OMIM:609053 |
| Multiple Benign Circumferential Skin Creases On Limbs |
|
Microcornea, Microphthalmia |
ORPHA:2505 |
| Meckel Syndrome, Type 5 |
|
Microphthalmia |
OMIM:611561 |
| Papillorenal Syndrome |
|
Cataract, Optic disc coloboma, Retinal coloboma, Microphthalmia, Lens luxation |
OMIM:120330 |
| Neuroocular Syndrome 1 |
|
Cataract, Microcornea, Stellate iris, Peters anomaly, Hypoplasia of the fovea, Blue irides, Micro... |
OMIM:619539 |
| Acro-Renal-Ocular Syndrome |
|
Cataract, Microcornea, Optic disc hypoplasia, Optic disc coloboma, Chorioretinal coloboma, Colobo... |
ORPHA:959 |
| Subaortic Stenosis-Short Stature Syndrome |
|
Microphthalmia |
ORPHA:3191 |
| Marfan Syndrome |
|
Cataract, Microspherophakia, Increased axial length of the globe, Ectopia lentis, Hypoplasia of t... |
OMIM:154700 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Cataract, Peters anomaly, Megalocornea, Coloboma, Corneal opacity, Microphthalmia, Buphthalmos, O... |
OMIM:236670 |
| Chromosome 8Q21.11 Deletion Syndrome |
|
Sclerocornea, Cataract, Microphthalmia |
OMIM:614230 |
| Trichothiodystrophy 1, Photosensitive |
|
Cataract, Microcornea, Keratoconjunctivitis sicca, Microphthalmia |
OMIM:601675 |
| Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome |
|
Ocular albinism, Microphthalmia |
ORPHA:1352 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 10 |
|
Microphthalmia |
OMIM:619053 |
| Osteopetrosis, Autosomal Recessive 8 |
|
Unilateral microphthalmos |
OMIM:615085 |
| Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Ocular anterior segment dysgenesis, Bilateral microphthalmos |
ORPHA:369891 |
| Kenny-Caffey Syndrome, Type 2 |
|
Developmental cataract, Microphthalmia |
OMIM:127000 |
| Martsolf Syndrome 1 |
|
Cataract, Developmental cataract, Microphthalmia |
OMIM:212720 |
| Frontofacionasal Dysplasia |
|
Cataract, Microcornea, Iris coloboma, Microphthalmia |
OMIM:229400 |
| Amyloidosis, Finnish Type |
|
Cataract, Lattice corneal dystrophy |
OMIM:105120 |
| Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Microphthalmia |
OMIM:300863 |
| Joubert Syndrome 37 |
|
Microphthalmia |
OMIM:619185 |
| Ritscher-Schinzel Syndrome 3 |
|
Chorioretinal coloboma, Microphthalmia |
OMIM:619135 |
| Hydrolethalus |
|
Anophthalmia, Microphthalmia |
ORPHA:2189 |
| Monosomy 18P |
|
Microphthalmia |
ORPHA:1598 |
| Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Sclerocornea, Microphthalmia |
OMIM:300952 |
| Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Cataract, Peters anomaly, Microphthalmia, Sclerocornea, Iris coloboma |
OMIM:309801 |
| Adams-Oliver Syndrome |
|
Cataract, Microphthalmia |
ORPHA:974 |
| 3Q29 Microdeletion Syndrome |
|
Cataract, Microphthalmia |
ORPHA:65286 |
| Steinfeld Syndrome |
|
Microphthalmia, Iris coloboma, Retinal coloboma |
OMIM:184705 |
| Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Optic disc coloboma, Ectopia pupillae, Corneal opacity, Microphthalmia, Lens subluxation |
OMIM:608940 |
| Lymphedema-Distichiasis Syndrome |
|
Recurrent corneal erosions, Conjunctivitis, Corneal ulceration, Microphthalmia |
OMIM:153400 |
| Skin Creases, Congenital Symmetric Circumferential, 1 |
|
Microcornea, Microphthalmia |
OMIM:156610 |
| Myoclonic-Astatic Epilepsy |
|
Microphthalmia |
ORPHA:1942 |
| Joubert Syndrome 14 |
|
Coloboma, Microphthalmia |
OMIM:614424 |
| Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Microphthalmia |
OMIM:618494 |
| Fanconi Anemia, Complementation Group S |
|
Microphthalmia |
OMIM:617883 |
| Moebius Syndrome |
|
Microphthalmia |
OMIM:157900 |
| Sponastrime Dysplasia |
|
Cataract, Microcoria, Congenital aphakia |
ORPHA:93357 |
| Duane-Radial Ray Syndrome |
|
Cataract, Optic disc hypoplasia, Retinal coloboma, Microphthalmia, Iris coloboma |
OMIM:607323 |
| Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
Bilateral microphthalmos, Optic nerve hypoplasia |
OMIM:607597 |
| 1Q21.1 Microdeletion Syndrome |
|
Cataract, Iris coloboma, Microphthalmia |
ORPHA:250989 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Cataract, Microphthalmia |
OMIM:253800 |
| Microcephaly 20, Primary, Autosomal Recessive |
|
Optic nerve hypoplasia, Microphthalmia |
OMIM:617914 |
| Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Cataract, Microphthalmia |
OMIM:302960 |
| Proboscis Lateralis |
|
Cataract, Microcornea, Chorioretinal coloboma, Optic disc coloboma, Anophthalmia, Corneal opacity... |
ORPHA:141099 |
| Pelvis-Shoulder Dysplasia |
|
Microcornea, Iris coloboma, Bilateral microphthalmos, Retinal coloboma |
ORPHA:2839 |
| Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Microphthalmia |
ORPHA:228390 |
| Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Microcornea, Microphthalmia |
OMIM:110100 |
| X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Microphthalmia |
ORPHA:163966 |
| Meckel Syndrome, Type 2 |
|
Microphthalmia |
OMIM:603194 |
| Matthew-Wood Syndrome |
|
Anophthalmia, Microphthalmia |
ORPHA:2470 |
| Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Unilateral microphthalmos, Iris coloboma |
OMIM:618874 |
| Galloway-Mowat Syndrome 1 |
|
Cataract, Opacification of the corneal stroma, Hypoplasia of the iris, Microphthalmia |
OMIM:251300 |
| Mycophenolate Mofetil Embryopathy |
|
Iris coloboma, Chorioretinal coloboma, Microphthalmia |
ORPHA:268249 |
| Atelis Syndrome 2 |
|
Microphthalmia, Developmental cataract, Remnants of the hyaloid vascular system |
OMIM:620185 |
| Osteoporosis-Pseudoglioma Syndrome |
|
Cataract, Iris atrophy, Phthisis bulbi, Absent anterior chamber of the eye, Microphthalmia |
OMIM:259770 |
| Fanconi Anemia, Complementation Group R |
|
Microphthalmia |
OMIM:617244 |
| Garg-Mishra Progeroid Syndrome |
|
Microphthalmia |
OMIM:620601 |
| Linear Nevus Sebaceus Syndrome |
|
Iris coloboma, Microphthalmia |
ORPHA:2612 |
| Monosomy 13Q14 |
|
Cataract, Iris coloboma, Microphthalmia |
ORPHA:1587 |
| Focal Dermal Hypoplasia |
|
Ectopia lentis, Chorioretinal coloboma, Hypoplasia of the iris, Corneal opacity, Microphthalmia, ... |
ORPHA:2092 |
| Bosma Arhinia Microphthalmia Syndrome |
|
Cataract, Coloboma, Microphthalmia |
OMIM:603457 |
| Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Microphthalmia |
ORPHA:404440 |
| Trisomy 18 |
|
Cataract, Microcornea, Microphthalmia, Cyclopia, Iris coloboma |
ORPHA:3380 |
| Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome |
|
Iris coloboma, Microphthalmia |
ORPHA:1236 |
| Microphthalmia With Limb Anomalies |
|
Anophthalmia, Microphthalmia |
OMIM:206920 |
| Vacterl With Hydrocephalus |
|
Microcornea, Anophthalmia, Microphthalmia |
ORPHA:3412 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Microcornea, Developmental cataract, Microphthalmia |
ORPHA:464738 |
| Hallermann-Streiff Syndrome |
|
Cataract, Optic disc coloboma, Chorioretinal coloboma, Microphthalmia, Iris coloboma |
OMIM:234100 |
| Meckel Syndrome |
|
Cataract, Microcornea, Aplasia/Hypoplasia of the iris, Anophthalmia, Microphthalmia, Sclerocornea |
ORPHA:564 |
| Meckel Syndrome, Type 4 |
|
Microphthalmia |
OMIM:611134 |
| Heart And Brain Malformation Syndrome |
|
Microphthalmia |
OMIM:616920 |
| Fetal Alcohol Syndrome |
|
Microphthalmia |
ORPHA:1915 |
| 2Q31.1 Microdeletion Syndrome |
|
Coloboma, Iris coloboma, Optic disc coloboma, Microphthalmia |
ORPHA:251014 |
| Curry-Jones Syndrome |
|
Iris coloboma, Microphthalmia |
OMIM:601707 |
| Incontinentia Pigmenti |
|
Hypoplasia of the fovea, Cataract, Keratitis, Microphthalmia |
OMIM:308300 |
| Cat Eye Syndrome |
|
Iris coloboma, Chorioretinal coloboma, Microphthalmia |
OMIM:115470 |
| Jacobsen Syndrome |
|
Microcornea, Chorioretinal coloboma, Macular hypoplasia, Microphthalmia, Iris coloboma |
OMIM:147791 |
| Acrofrontofacionasal Dysostosis 1 |
|
Iris atrophy, Microphthalmia |
OMIM:201180 |
| 3P25.3 Microdeletion Syndrome |
|
Microphthalmia |
ORPHA:435638 |
| Joubert Syndrome 2 |
|
Optic disc coloboma, Chorioretinal coloboma, Microphthalmia |
OMIM:608091 |
| Marden-Walker Syndrome |
|
Microphthalmia |
OMIM:248700 |
| Incontinentia Pigmenti |
|
Microphthalmia, Cataract, Keratitis, Corneal opacity |
ORPHA:464 |
| Rothmund-Thomson Syndrome, Type 2 |
|
Cataract, Microcornea, Zonular cataract, Microphthalmia |
OMIM:268400 |
| Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Microcornea, Hypoplasia of the iris, Ectopia pupillae, Astigmatism, Corneal neovascularization, P... |
OMIM:175780 |
| Basal Cell Nevus Syndrome 1 |
|
Cataract, Iris coloboma, Microphthalmia |
OMIM:109400 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Cataract, Megalocornea, Hypoplasia of the retina, Coloboma, Microphthalmia, Buphthalmos, Opacific... |
OMIM:253280 |
| Monosomy 9Q22.3 |
|
Cataract, Microphthalmia |
ORPHA:77301 |
| Cohen Syndrome |
|
Iris coloboma, Microphthalmia |
ORPHA:193 |
| Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies |
|
Microphthalmia |
OMIM:620098 |
| Oculodentodigital Dysplasia |
|
Cataract, Microcornea, Microphthalmia |
OMIM:164200 |
| Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Microphthalmia |
OMIM:241410 |
| Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Microphthalmia, Corneal opacity |
ORPHA:364577 |
| Premature Aging Syndrome, Penttinen Type |
|
Microphthalmia, Corneal stromal edema, Corneal opacity |
OMIM:601812 |
| Chromosome 1Q41-Q42 Deletion Syndrome |
|
Microphthalmia |
OMIM:612530 |
| Fryns Syndrome |
|
Microphthalmia, Corneal opacity |
ORPHA:2059 |
| Pseudotrisomy 13 Syndrome |
|
Cyclopia, Microphthalmia |
OMIM:264480 |
| Mosaic Trisomy 1 |
|
Opacification of the corneal stroma, Microphthalmia |
ORPHA:1692 |
| Mosaic Trisomy 9 |
|
Microphthalmia, Corneal opacity |
ORPHA:99776 |
| Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Microphthalmia |
ORPHA:2728 |
| Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Cyclopia, Iris coloboma, Microphthalmia |
ORPHA:3186 |
| Dubowitz Syndrome |
|
Microphthalmia, Hypoplasia of the iris, Iris coloboma, Megalocornea |
OMIM:223370 |
| Cerebrooculofacioskeletal Syndrome 4 |
|
Bilateral microphthalmos |
OMIM:610758 |
| Cockayne Syndrome Type 3 |
|
Lentiglobus, Cataract, Microcornea, Keratoconjunctivitis sicca, Microphthalmia, Corneal ulceration |
ORPHA:90324 |
| Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Cataract, Microphthalmia |
ORPHA:306542 |
| Cousin Syndrome |
|
Microcornea, Microphthalmia |
OMIM:260660 |
| Mosaic Variegated Aneuploidy Syndrome |
|
Microphthalmia, Cataract, Corneal opacity |
ORPHA:1052 |
| Momo Syndrome |
|
Bilateral microphthalmos, Chorioretinal coloboma |
ORPHA:2563 |
| Hallermann-Streiff Syndrome |
|
Developmental cataract, Microphthalmia |
ORPHA:2108 |
| Mend Syndrome |
|
Cataract, Microphthalmia |
ORPHA:401973 |
| Cockayne Syndrome B |
|
Microcornea, Hypoplasia of the iris, Developmental cataract, Microphthalmia, Opacification of the... |
OMIM:133540 |
| Chromosome 13Q33-Q34 Deletion Syndrome |
|
Microphthalmia |
OMIM:619148 |
| Tetraamelia Syndrome 1 |
|
