Hereditary Hyperferritinemia-Cataract Syndrome |
|
Cataract |
ORPHA:163 |
Cataract 29 |
|
Cataract |
OMIM:115800 |
Cataract 35 |
|
Cataract |
OMIM:609376 |
Cataract 36 |
|
Cataract |
OMIM:613887 |
Cataract 18 |
|
Cataract |
OMIM:610019 |
Cataract 20, Multiple Types |
|
Cataract, Membranous cataract |
OMIM:116100 |
Cataract 4, Multiple Types |
|
Developmental cataract |
OMIM:115700 |
Cataract 39, Multiple Types |
|
Developmental cataract |
OMIM:615188 |
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 |
Cataract And Congenital Ichthyosis |
|
Cataract |
OMIM:212400 |
Hypertrophic Neuropathy And Cataract |
|
Cataract |
OMIM:239900 |
Cochleosaccular Degeneration With Progressive Cataracts |
|
Progressive cataract |
OMIM:120040 |
Cataract 44 |
|
Developmental cataract |
OMIM:616509 |
Aniridia 3 |
|
Cataract |
OMIM:617142 |
Iris Pigment Epithelium Anomalies |
|
Iris cyst |
OMIM:601616 |
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness |
|
Chorioretinal coloboma, Cataract |
OMIM:274205 |
Foveal Hypoplasia-Presenile Cataract Syndrome |
|
Optic atrophy, Cataract |
ORPHA:2253 |
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities |
|
Cataract, Rod-cone dystrophy |
OMIM:300719 |
Hydrocephaly-Cerebellar Agenesis Syndrome |
|
Cataract |
ORPHA:1397 |
Cataract 12, Multiple Types |
|
Developmental cataract, Progressive cataract |
OMIM:611597 |
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome |
|
Cataract |
ORPHA:73245 |
Trichomegaly |
|
Cataract |
OMIM:190330 |
X-Linked Retinoschisis |
|
Retinoschisis, Cataract |
ORPHA:792 |
Aldh18A1-Related De Barsy Syndrome |
|
Cataract |
ORPHA:35664 |
Corneal Dystrophy, Groenouw Type I |
|
Nodular corneal dystrophy, Granular corneal dystrophy, Cataract, Punctate corneal dystrophy |
OMIM:121900 |
Foveal Hypoplasia 1 |
|
Presenile cataracts, Hypoplasia of the fovea |
OMIM:136520 |
Pupillary Membrane, Persistence Of |
|
Developmental cataract, Persistent pupillary membrane, Megalocornea |
OMIM:178900 |
Corneal Degeneration, Band-Shaped Spheroid |
|
Corneal degeneration |
OMIM:217520 |
Corneal Dystrophy, Lisch Epithelial |
|
Corneal dystrophy |
OMIM:300778 |
Corneal Dystrophy, Fuchs Endothelial, 8 |
|
Corneal dystrophy |
OMIM:615523 |
Cataract 7 |
|
Developmental cataract |
OMIM:115660 |
Iris Pigment Layer, Cleavage Of |
|
Cataract, Peripheral retinal detachment |
OMIM:147610 |
Retinal Dystrophy And Iris Coloboma With Or Without Congenital Cataract |
|
Developmental cataract, Posterior synechiae of the anterior chamber, Retinal atrophy |
OMIM:616722 |
Cataract-Nephropathy-Encephalopathy Syndrome |
|
Cataract |
ORPHA:1380 |
Nathalie Syndrome |
|
Cataract |
ORPHA:2663 |
Optic Atrophy 3, Autosomal Dominant |
|
Optic atrophy, Optic disc pallor, Cataract |
OMIM:165300 |
Cataract 14, Multiple Types |
|
Zonular cataract |
OMIM:601885 |
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy |
|
Juvenile cataract |
OMIM:212500 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 3 |
|
Cataract |
ORPHA:79281 |
Retinitis Pigmentosa 84 |
|
Macular coloboma, Macular atrophy, Cataract, Rod-cone dystrophy |
OMIM:618220 |
Cataract-Ataxia-Deafness-Retardation Syndrome |
|
Developmental cataract |
OMIM:212710 |
Galactosemia Iv |
|
Cataract |
OMIM:618881 |
Coats Disease |
|
Aplasia/Hypoplasia of the iris, Abnormal retinal vascular morphology, Retinal detachment, Catarac... |
ORPHA:190 |
Genetic Hyperferritinemia Without Iron Overload |
|
Cataract |
ORPHA:254704 |
Cataract 41 |
|
Nuclear cataract, Developmental cataract |
OMIM:116400 |
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome |
|
Retinal dystrophy, Cataract |
OMIM:610156 |
Uncombable Hair Syndrome 2 |
|
Juvenile cataract |
OMIM:617251 |
Exudative Vitreoretinopathy 6 |
|
Exudative vitreoretinopathy, Retinal detachment, Posterior vitreous detachment, Cataract, Chorior... |
OMIM:616468 |
Microphthalmia, Isolated, With Cataract 1 |
|
Cataract |
OMIM:156850 |
Bardet-Biedl Syndrome 18 |
|
Retinal dystrophy, Cataract, Rod-cone dystrophy |
OMIM:615995 |
Anterior Segment Dysgenesis 8 |
|
Persistent pupillary membrane, Hypoplasia of the iris, Ectopia lentis, Microphakia, Iris transill... |
OMIM:617319 |
Cataract-Microcornea Syndrome |
|
Corneal dystrophy, Iris coloboma, Corneal opacity, Cataract, Microcornea |
ORPHA:1377 |
Galactosemia Ii |
|
Cataract |
OMIM:230200 |
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract |
|
Aniridia, Microcornea, Cataract |
OMIM:106230 |
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay |
|
Developmental cataract, Cataract |
OMIM:613076 |
Cataract 21, Multiple Types |
|
Cerulean cataract, Cortical pulverulent cataract, Iris coloboma, Macular hypoplasia, Retinal deta... |
OMIM:610202 |
Wagner Vitreoretinopathy |
|
Optic atrophy, Vitreoretinopathy, Exudative vitreoretinopathy, Optically empty vitreous, Retinal ... |
OMIM:143200 |
Chorea, Remitting, With Nystagmus And Cataract |
|
Cataract |
OMIM:601372 |
Spastic Paraparesis And Deafness |
|
Cataract |
OMIM:312910 |
Megalocornea |
|
Decreased corneal thickness, Corneal arcus, Lens subluxation, Iris transillumination defect, Irid... |
OMIM:309300 |
Microphthalmia, Isolated, With Coloboma 3 |
|
Cataract, Iris coloboma |
OMIM:610092 |
Anterior Segment Dysgenesis 5 |
|
Developmental cataract, Hypoplasia of the fovea, Posterior embryotoxon, Hypoplasia of the iris, S... |
OMIM:604229 |
Peters Anomaly |
|
Opacification of the corneal stroma, Thinning of Descemet membrane, Peters anomaly, Developmental... |
ORPHA:708 |
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Macular atrophy, Chorioretinal coloboma, Retinal dystrophy, Iris coloboma, Retinal detachment, Ca... |
OMIM:212550 |
Spinocerebellar Ataxia, Autosomal Recessive 24 |
|
Cataract |
OMIM:617133 |
Anterior Segment Dysgenesis 2 |
|
Anterior segment of eye aplasia, Aniridia, Congenital aphakia, Sclerocornea, Peters anomaly, Post... |
OMIM:610256 |
Intellectual Developmental Disorder And Retinitis Pigmentosa |
|
Optic disc pallor, Cataract, Macular degeneration, Peripapillary atrophy |
OMIM:618195 |
Aniridia 2 |
|
Aniridia, Cataract |
OMIM:617141 |
Cataract 10, Multiple Types |
|
Posterior Y-sutural cataract, Developmental cataract, Zonular cataract |
OMIM:600881 |
Cataract 43 |
|
Subcapsular cataract |
OMIM:616279 |
Cataract 1, Multiple Types |
|
Nuclear cataract, Developmental cataract, Posterior subcapsular cataract, Microcornea, Pulverulen... |
OMIM:116200 |
Congenital Disorder Of Glycosylation, Type Ii |
|
Coloboma, Cataract |
OMIM:607906 |
Retinitis Pigmentosa 9 |
|
Macular atrophy, Bone spicule pigmentation of the retina, Macular edema, Rod-cone dystrophy, Cata... |
OMIM:180104 |
Cataract 42 |
|
Developmental cataract |
OMIM:115900 |
Ectopia Lentis Et Pupillae |
|
Retinal detachment, Persistent pupillary membrane, Cataract, Ectopia lentis |
OMIM:225200 |
Leg, Absence Deformity Of, With Congenital Cataract |
|
Developmental cataract, Optic nerve dysplasia, Progressive cataract |
OMIM:246000 |
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism |
|
Cataract |
OMIM:254000 |
Stickler Syndrome Type 2 |
|
Abnormal vitreous humor morphology, Retinal detachment, Corneal opacity, Cataract, Retinopathy |
ORPHA:90654 |
Dysequilibrium Syndrome |
|
Cataract |
ORPHA:1766 |
X-Linked Corneal Dermoid |
|
Abnormal pupil morphology, Corneal opacity |
ORPHA:1661 |
Idiopathic Anterior Uveitis |
|
Nuclear cataract, Posterior subcapsular cataract, Macular edema, Increased cup-to-disc ratio, Pos... |
ORPHA:280914 |
Spinocerebellar Degeneration With Macular Corneal Dystrophy, Congenital Cataracts, And Myopia |
|
Developmental cataract, Corneal dystrophy |
OMIM:271320 |
Intermediate Uveitis |
|
Vitreous floaters, Macular edema, Anterior uveitis, Optic neuritis, Vitreous snowballs, Posterior... |
ORPHA:279914 |
Retinitis Pigmentosa 2 |
|
Pigmentary retinopathy, Cataract, Rod-cone dystrophy, Chorioretinal degeneration |
OMIM:312600 |
Cortical Dysplasia, Complex, With Other Brain Malformations 4 |
|
Cataract |
OMIM:615412 |
Cataract 9, Multiple Types |
|
Developmental cataract, Progressive cataract, Iris coloboma, Cataract, Microcornea |
OMIM:604219 |
Retinitis Pigmentosa 37 |
|
Rod-cone dystrophy, Cataract, Cystoid macular degeneration, Pigmentary retinopathy |
OMIM:611131 |
Cataract 47 |
|
Microcornea, Cataract |
OMIM:612018 |
Encephalopathy, Axonal, With Necrotizing Myopathy, Cardiomyopathy, And Cataracts |
|
Cataract |
OMIM:225740 |
Cataract 15, Multiple Types |
|
Nuclear cataract, Developmental cataract, Lamellar cataract, Cortical cataract, Cataract |
OMIM:615274 |
Glaucoma, Primary Closed-Angle |
|
Increased cup-to-disc ratio, Anterior synechiae of the anterior chamber |
OMIM:618880 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Persistent pupillary membrane, Buphthalmos, Shallow anterior chamber, Retinal nonattachment, Reti... |
OMIM:221900 |
Retinitis Pigmentosa 4 |
|
Cataract, Rod-cone dystrophy, Pigmentary retinopathy |
OMIM:613731 |
Nathalie Syndrome |
|
Cataract |
OMIM:255990 |
Vitreoretinal Degeneration, Snowflake Type |
|
Retinal dots, Corneal guttata, Optically empty vitreous, Retinal detachment, Cataract, Snowflake ... |
OMIM:193230 |
Morm Syndrome |
|
Retinal dystrophy, Cataract, Retinal atrophy |
ORPHA:75858 |
Iridocorneal Endothelial Syndrome |
|
Polycoria, Corneal stromal edema, Hypoplastic iris stroma, Abnormal migration of corneal endothel... |
ORPHA:64734 |
Cone-Rod Dystrophy 16 |
|
Macular atrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, ... |
OMIM:614500 |
Anterior Segment Dysgenesis 6 |
|
Corneal opacity, Posterior synechiae of the anterior chamber, Abnormal Descemet membrane morpholo... |
OMIM:617315 |
Corneal Dystrophy, Posterior Polymorphous, 2 |
|
Corneal opacity, Corneal dystrophy |
OMIM:609140 |
Birdshot Chorioretinopathy |
|
Optic disc pallor, Photoreceptor layer loss on macular OCT, Vitreous floaters, Choroidal neovascu... |
ORPHA:179 |
Myopia, High, With Cataract And Vitreoretinal Degeneration |
|
Retinal detachment, Peripheral vitreoretinal degeneration, Cataract, Lens subluxation |
OMIM:614292 |
Spastic Paraparesis-Deafness Syndrome |
|
Cataract |
ORPHA:2815 |
Cataract 8, Multiple Types |
|
Nuclear cataract, Developmental cataract |
OMIM:115665 |
Exfoliation Syndrome |
|
Mydriasis, Abnormality of the lens, Lens subluxation, Iris hypoperfusion, Phakodonesis, Pseudoexf... |
OMIM:177650 |
Leber Congenital Amaurosis 2 |
|
Keratoconus, Cataract, Fundus atrophy, Pigmentary retinopathy |
OMIM:204100 |
Idiopathic Panuveitis |
|
Conjunctival hyperemia, Vitreous floaters, Choroidal neovascularization, Vitreous snowballs, Post... |
ORPHA:280921 |
Corneal Dystrophy, Posterior Polymorphous, 1 |
|
Polymorphous posterior corneal dystrophy, Thinning of Descemet membrane, Iris atrophy, Corneal op... |
OMIM:122000 |
Cataract 3, Multiple Types |
|
Sutural cataract, Developmental cataract, Cerulean cataract, Nuclear pulverulent cataract |
OMIM:601547 |
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1 |
|
Microcornea, Cataract, Rod-cone dystrophy |
OMIM:619082 |
Cataract, Age-Related Nuclear |
|
Nuclear cataract |
OMIM:601371 |
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome |
|
Peripheral retinal atrophy, Retinal dystrophy, Iris coloboma, Absent foveal reflex, Microcornea |
OMIM:615147 |
Cataract 22, Multiple Types |
|
Nuclear cataract, Developmental cataract |
OMIM:609741 |
Spastic Ataxia-Corneal Dystrophy Syndrome |
|
Optic atrophy, Developmental cataract, Corneal dystrophy |
ORPHA:2572 |
Aniridia-Intellectual Disability Syndrome |
|
Aniridia, Optic nerve hypoplasia, Cataract, Ectopia lentis |
ORPHA:1068 |
Myopia 17, Autosomal Dominant |
|
Presenile cataracts, Retinal hole |
OMIM:608367 |
Proximal Myotonic Myopathy |
|
Cataract |
ORPHA:606 |
Peroxisome Biogenesis Disorder 10A (Zellweger) |
|
Cataract |
OMIM:614882 |
Leber Congenital Amaurosis 7 |
|
Keratoconus, Cataract |
OMIM:613829 |
Hemolytic Anemia Due To Glutathione Reductase Deficiency |
|
Cataract |
OMIM:618660 |
Cataract 11, Multiple Types |
|
Cataract |
OMIM:610623 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Optic atrophy, Chorioretinal coloboma, Posterior embryotoxon, Iris coloboma, Retinal detachment, ... |
ORPHA:1473 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Optic atrophy, Macular atrophy, Optic disc pallor, Cataract, Retinopathy, Microcornea |
OMIM:616171 |
Leber Congenital Amaurosis 16 |
|
Optic disc pallor, Cataract |
OMIM:614186 |
Isolated Aniridia |
|
Aniridia, Peters anomaly, Aplasia/Hypoplasia of the macula, Cataract |
ORPHA:250923 |
Microphthalmia, Isolated, With Coloboma 10 |
|
Microcoria, Chorioretinal coloboma, Iris coloboma |
OMIM:616428 |
Oculoauricular Syndrome |
|
Iris cyst, Developmental cataract, Chorioretinal coloboma, Posterior embryotoxon, Retinal colobom... |
OMIM:612109 |
Leber Congenital Amaurosis 8 |
|
Choriocapillaris atrophy, Cataract, Keratoconus |
OMIM:613835 |
Leber Congenital Amaurosis 6 |
|
Keratoconus, Cataract, Attenuation of retinal blood vessels |
OMIM:613826 |
Anterior Segment Dysgenesis 3 |
|
Posterior embryotoxon, Axenfeld anomaly, Hypoplastic iris stroma, Rieger anomaly, Peters anomaly,... |
OMIM:601631 |
Kahrizi Syndrome |
|
Cataract, Iris coloboma |
OMIM:612713 |
Cataract, Microcephaly, Failure To Thrive, Kyphoscoliosis Syndrome |
|
Cataract |
OMIM:212540 |
Posterior Polymorphous Corneal Dystrophy |
|
Corneal stromal edema, Reduced number of corneal endothelial cells, Increased corneal curvature, ... |
ORPHA:98973 |
Phacoanaphylactic Uveitis |
|
Conjunctival hyperemia, Hypopyon, Posterior synechiae of the anterior chamber, Cystoid macular ed... |
ORPHA:209959 |
Weill-Marchesani Syndrome 4 |
|
Iridodonesis, Phakodonesis, Ectopia lentis |
OMIM:613195 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Persistent pupillary membrane, Corneal opacity, Cataract, Aplasia/Hypoplasia of the iris |
ORPHA:1067 |
Dermoids Of Cornea |
|
Corneal opacity |
OMIM:304730 |
Norrie Disease |
|
Optic atrophy, Retinal fold, Shallow anterior chamber, Hypoplasia of the iris, Retinal dysplasia,... |
OMIM:310600 |
Kyrle Disease |
|
Posterior subcapsular cataract |
OMIM:149500 |
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts |
|
Cataract, Retinopathy |
OMIM:183800 |
Cataract-Deafness-Hypogonadism Syndrome |
|
Developmental cataract |
ORPHA:1383 |
Intellectual Disability-Cataracts-Kyphosis Syndrome |
|
Cataract, Iris coloboma |
ORPHA:171860 |
Severe Early-Childhood-Onset Retinal Dystrophy |
|
Rhegmatogenous retinal detachment, Abnormality of retinal pigmentation, Optic disc pallor, Poster... |
ORPHA:364055 |
Morning Glory Disc Anomaly |
|
Retinal detachment, Abnormality of retinal pigmentation, Cataract, Optic disc coloboma |
ORPHA:35737 |
Adult-Onset Foveomacular Vitelliform Dystrophy |
|
Retinal nonattachment, Iris hypopigmentation, Choroideremia, Vitelliform-like macular lesions |
ORPHA:99000 |
Autosomal Recessive Spastic Paraplegia Type 69 |
|
Cataract |
ORPHA:401830 |
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome |
|
Cataract |
ORPHA:2278 |
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma |
|
Ectopia lentis, Iridodonesis, Microspherophakia, Deep anterior chamber, Megalocornea |
OMIM:251750 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Optic atrophy, Cataract, Retinal dysplasia |
OMIM:613154 |
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Posterior lenticonus, Chorioretinal coloboma, Retinal dystrophy, Iris coloboma, Remnants of the h... |
ORPHA:231736 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3 |
|
Cataract |
OMIM:609115 |
Loose Anagen Syndrome |
|
Iris coloboma |
ORPHA:168 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Abnormality of retinal pigmentation, Optic disc pallor, Retinal fold, Retinal dystrophy, Choriore... |
OMIM:251270 |
Yemenite Deaf-Blind Hypopigmentation Syndrome |
|
Microcornea, Chorioretinal coloboma, Iris coloboma |
OMIM:601706 |
Hypomyelination-Congenital Cataract Syndrome |
|
Developmental cataract |
ORPHA:85163 |
Upper Limb Defect-Eye And Ear Abnormalities Syndrome |
|
Chorioretinal coloboma, Cataract |
ORPHA:2489 |
Microphthalmia, Isolated 5 |
|
Foveoschisis, Drusen, Optic disc drusen, Bone spicule pigmentation of the retina, Rod-cone dystro... |
OMIM:611040 |
Thanatophoric Dysplasia, Glasgow Variant |
|
Cataract |
OMIM:273680 |
Hyperferritinemia With Or Without Cataract |
|
Nuclear cataract, Pulverulent cataract |
OMIM:600886 |
Amoebic Keratitis |
|
Corneal perforation, Decreased corneal sensation, Corneal stromal edema, Anterior uveitis, Iris a... |
ORPHA:67043 |
Autosomal Dominant Keratitis |
|
Abnormality of the corneal limbus, Hypoplasia of the fovea, Aniridia, Hypoplastic iris stroma, Li... |
ORPHA:2334 |
2Q24 Microdeletion Syndrome |
|
Coloboma, Cataract, Abnormality iris morphology |
ORPHA:1617 |
Deafness, Autosomal Recessive 108 |
|
Iris coloboma |
OMIM:617654 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type |
|
Cataract |
OMIM:300261 |
Dilution, Pigmentary |
|
Hypopigmentation of the fundus, Iris hypopigmentation |
OMIM:126070 |
Pellagra-Like Syndrome |
|
Cataract |
OMIM:260650 |
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Mental Retardation |
|
Coloboma, Cataract |
OMIM:120433 |
Cataract 30, Multiple Types |
|
Posterior polar cataract, Pulverulent cataract, Diffuse nuclear cataract |
OMIM:116300 |
Oculocutaneous Albinism Type 6 |
|
Abnormal fundus morphology, Abnormal foveal morphology on macular OCT, Aplasia/Hypoplasia of the ... |
ORPHA:370097 |
Polycystic Kidney, Cataract, And Congenital Blindness |
|
Microcoria, Hypoplasia of the retina, Cataract, Retinal dystrophy |
OMIM:263100 |
Cataract 5, Multiple Types |
|
Nuclear cataract, Anterior polar cataract, Lamellar cataract, Zonular cataract, Pulverulent cataract |
OMIM:116800 |
Retinitis Pigmentosa 23 |
|
Posterior subcapsular cataract, Rod-cone dystrophy |
OMIM:300424 |
Congenital Varicella Syndrome |
|
Cataract |
ORPHA:291 |
Chronic Myeloid Leukemia |
|
Thrombocytosis, Abnormal basophil morphology, Leukocytosis, Abnormal granulocyte morphology, Sple... |
ORPHA:521 |
Heterochromia Iridis |
|
Heterochromia iridis, Asymmetry of iris pigmentation |
OMIM:142500 |
Cataract 32, Multiple Types |
|
Anterior polar cataract |
OMIM:115650 |
Leber Congenital Amaurosis 1 |
|
Keratoconus, Cataract, Fundus atrophy, Pigmentary retinopathy |
OMIM:204000 |
X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Cataract |
ORPHA:85288 |
Absence Deformity Of Leg-Cataract Syndrome |
|
Cataract |
ORPHA:2310 |
Aniridia And Absent Patella |
|
Aniridia, Cataract |
OMIM:106220 |
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination |
|
Cataract |
OMIM:617393 |
Dwarfism With Stiff Joints And Ocular Abnormalities |
|
Retinal detachment, Cataract |
OMIM:127200 |
Xeroderma Pigmentosum, Complementation Group G |
|
Cataract |
OMIM:278780 |
Ectopia Lentis 2, Isolated, Autosomal Recessive |
|
Ectopia lentis |
OMIM:225100 |
Ectopia Lentis 1, Isolated, Autosomal Dominant |
|
Ectopia lentis |
OMIM:129600 |
Ceroid Lipofuscinosis, Neuronal, 3 |
|
Optic atrophy, Cataract, Rod-cone dystrophy, Macular degeneration |
OMIM:204200 |
Leber Congenital Amaurosis |
|
Keratoconus, Abnormality of the optic disc, Abnormality of retinal pigmentation, Cataract |
ORPHA:65 |
Bilateral Acute Depigmentation Of The Iris |
|
Hypoplastic iris stroma, Abnormal corneal endothelium morphology, Iris pigment dispersion, Pigmen... |
ORPHA:69736 |
Cochleosaccular Degeneration-Cataract Syndrome |
|
Cataract |
ORPHA:3233 |
Ehlers-Danlos Syndrome, Beasley-Cohen Type |
|
Cataract |
OMIM:608763 |
Cataract 16, Multiple Types |
|
Posterior polar cataract, Developmental cataract |
OMIM:613763 |
Edict Syndrome |
|
Developmental cataract, Hypoplasia of the iris, Astigmatism, Microcornea, Keratoconus |
OMIM:614303 |
Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Cataract |
OMIM:614876 |
Woolly Hair |
|
Abnormal pupil morphology, Cataract, Abnormal retinal morphology |
ORPHA:170 |
Albinism, Oculocutaneous, Type Iv |
|
Blue irides, Macular hypoplasia, Hypopigmentation of the fundus |
OMIM:606574 |
Retinopathy, Pigmentary, And Mental Retardation |
|
Cataract, Pigmentary retinopathy |
OMIM:268050 |
Retinitis Pigmentosa 77 |
|
Cystoid macular edema, Posterior subcapsular cataract, Retinal atrophy, Rod-cone dystrophy |
OMIM:617304 |
Corneal Dystrophy, Posterior Amorphous |
|
Corneal dystrophy, Ectopia pupillae, Iris coloboma |
OMIM:612868 |
Coloboma, Ocular, Autosomal Recessive |
|
Lens subluxation, Retinal coloboma, Optic disc coloboma, Iris coloboma, Cataract |
OMIM:216820 |
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation |
|
Band keratopathy, Cataract |
OMIM:604278 |
Cataract 31, Multiple Types |
|
Nuclear cataract, Posterior subcapsular cataract, Anterior subcapsular cataract |
OMIM:605387 |
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome |
|
Cataract, Corneal dystrophy |
ORPHA:1369 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Cataract, Rod-cone dystrophy, Retinal coloboma |
OMIM:601794 |
Biemond Syndrome Ii |
|
Iris coloboma |
OMIM:210350 |
X-Linked Intellectual Disability-Retinitis Pigmentosa Syndrome |
|
Iris hypopigmentation |
ORPHA:85332 |
Blindness-Scoliosis-Arachnodactyly Syndrome |
|
Abnormality of retinal pigmentation, Lens subluxation, Microphakia, Retinal detachment, Cataract |
ORPHA:171844 |
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Cataract, Rod-cone dystrophy, Retinal coloboma |
ORPHA:363741 |
Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Microcornea, Cataract |
ORPHA:2528 |
Exudative Vitreoretinopathy 4 |
|
Tractional retinal detachment, Exudative vitreoretinopathy, Peripheral retinal avascularization, ... |
OMIM:601813 |
Late-Onset Retinal Degeneration |
|
Macular atrophy, Multifocal subretinal deposits, Patchy atrophy of the retinal pigment epithelium... |
ORPHA:67042 |
Adult-Onset Multiple Mitochondrial Dna Deletion Syndrome Due To Dguok Deficiency |
|
Optic atrophy, Cataract |
ORPHA:329314 |
Congenital Corneal Opacities, Cornea Guttata, And Corectopia |
|
Corneal opacity, Ectopia pupillae |
OMIM:608484 |
Anterior Segment Dysgenesis 7 |
|
Buphthalmos, Sclerocornea, Cataract, Microcornea, Ocular anterior segment dysgenesis |
OMIM:269400 |
Retinitis Pigmentosa 82 With Or Without Situs Inversus |
|
Macular atrophy, Optic disc pallor, Posterior subcapsular cataract, Rod-cone dystrophy |
OMIM:615434 |
Senior-Loken Syndrome |
|
Retinal dystrophy, Abnormality of retinal pigmentation, Cataract |
ORPHA:3156 |
Cataract-Aberrant Oral Frenula-Growth Delay Syndrome |
|
Cataract |
ORPHA:1373 |
Hypogonadism-Cataract Syndrome |
|
Cataract |
OMIM:240950 |
Retinitis Pigmentosa 86 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Cortical cataract, Retinal pigment ep... |
OMIM:618613 |
Familial Exudative Vitreoretinopathy |
|
Rhegmatogenous retinal detachment, Tractional retinal detachment, Vitreous floaters, Vitreoretino... |
ORPHA:891 |
Uveal Melanoma |
|
Mydriasis, Abnormal fundus morphology, Zonular cataract, Iris melanoma, Retinal detachment, Vitre... |
ORPHA:39044 |
Coats Disease |
|
Exudative retinal detachment, Leukocoria, Retinal telangiectasia |
OMIM:300216 |
3-Methylglutaconic Aciduria, Type Vii |
|
Cataract |
OMIM:616271 |
Cataract 17, Multiple Types |
|
Microcornea, Nuclear cataract, Developmental cataract, Pulverulent cataract |
OMIM:611544 |
Retinitis Pigmentosa 46 |
|
Pigmentary retinopathy, Optic disc pallor, Posterior subcapsular cataract, Rod-cone dystrophy, At... |
OMIM:612572 |
Klippel-Feil Syndrome 3, Autosomal Dominant |
|
Chorioretinal coloboma, Iris coloboma |
OMIM:613702 |
Juvenile Glaucoma |
|
Abnormality of the optic nerve, Optic neuropathy, Temporal optic disc pallor, Abnormality iris mo... |
ORPHA:98977 |
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Coloboma, Developmental cataract, Retinal dysplasia, Ocular anterior segment dysgenesis |
ORPHA:324416 |
Blepharoptosis-Myopia-Ectopia Lentis Syndrome |
|
Iris coloboma, Abnormality of retinal pigmentation, Ectopia lentis |
ORPHA:1259 |
Peroxisome Biogenesis Disorder 9B |
|
Cataract, Rod-cone dystrophy |
OMIM:614879 |
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Cataract |
ORPHA:1875 |
Glaucoma-Ectopia Lentis-Microspherophakia-Stiff Joints-Short Stature Syndrome |
|
Ectopia lentis |
ORPHA:2084 |
Congenital Cataracts, Hearing Loss, And Neurodegeneration |
|
Developmental cataract, Cataract |
OMIM:614482 |
Cataract 33, Multiple Types |
|
Nuclear cataract, Lamellar cataract, Cortical cataract |
OMIM:611391 |
Microspherophakia With Hernia |
|
Retinal detachment, Microspherophakia, Superior lens subluxation |
OMIM:157150 |
Exudative Vitreoretinopathy 1 |
|
Exudative vitreoretinopathy, Peripheral retinal avascularization, Retinal exudate, Retinal neovas... |
OMIM:133780 |
Microcornea, Myopic Chorioretinal Atrophy, And Telecanthus |
|
Microcornea, Posterior subcapsular cataract, Chorioretinal degeneration |
OMIM:615458 |
Cataract 6, Multiple Types |
|
Posterior polar cataract, Developmental cataract, Choroideremia |
OMIM:116600 |
X-Linked Immunoneurologic Disorder |
|
Cataract |
ORPHA:2571 |
Galactose Epimerase Deficiency |
|
Cataract |
ORPHA:79238 |
Developmental And Epileptic Encephalopathy 35 |
|
Cataract |
OMIM:616647 |
Charcot-Marie-Tooth Disease Type 1B |
|
Abnormal pupil morphology, Decreased nerve conduction velocity |
ORPHA:101082 |
Enhanced S-Cone Syndrome |
|
Vitreoretinopathy, Macular edema, Cataract, Pigmentary retinopathy, Retinoschisis |
OMIM:268100 |
Anterior Segment Dysgenesis 4 |
|
Hypoplastic iris stroma, Iris hypopigmentation |
OMIM:137600 |
Griscelli Syndrome Type 3 |
|
Iris hypopigmentation |
ORPHA:79478 |
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Coloboma, Peters anomaly, Ocular anterior segment dysgenesis, Iris coloboma |
OMIM:610023 |
Combined Oxidative Phosphorylation Deficiency 31 |
|
Cataract |
OMIM:617228 |
Lissencephaly 8 |
|
Optic atrophy, Cataract |
OMIM:617255 |
Gyrate Atrophy Of Choroid And Retina |
|
Chorioretinal degeneration, Subcapsular cataract, Cataract, Chorioretinal atrophy, Chorioretinal ... |
ORPHA:414 |
Oculocerebral Hypopigmentation Syndrome Of Preus |
|
Cataract |
OMIM:257790 |
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness |
|
Cataract, Retinal thinning, Asteroid hyalosis |
OMIM:132450 |
Spastic Paraplegia 5A, Autosomal Recessive |
|
Optic atrophy, Cataract |
OMIM:270800 |
Infantile Spasms-Broad Thumbs Syndrome |
|
Optic disc pallor, Cataract |
ORPHA:3173 |
Anterior Segment Dysgenesis 1 |
|
Posterior polar cataract, Peters anomaly, Opacification of the corneal stroma, Microcornea, Ocula... |
OMIM:107250 |
Retinitis Pigmentosa 83 |
|
Posterior subcapsular cataract, Vitreous floaters, Bone spicule pigmentation of the retina, Rod-c... |
OMIM:618173 |
Deaf Blind Hypopigmentation Syndrome, Yemenite Type |
|
Anterior synechiae of the anterior chamber, Microcornea, Iris hypopigmentation, Iris coloboma |
ORPHA:3214 |
Peroxisome Biogenesis Disorder 11B |
|
Cataract |
OMIM:614885 |
Glaucoma 3, Primary Congenital, D |
|
Corneal opacity, Primary congenital glaucoma, Ectopia lentis |
OMIM:613086 |
Galactose Mutarotase Deficiency |
|
Cataract |
ORPHA:570422 |
3-Methylglutaconic Aciduria Type 4 |
|
Iris hypopigmentation, Cataract |
ORPHA:67048 |
Iris Hypoplasia With Glaucoma |
|
Iris atrophy, Hypoplasia of the iris |
OMIM:308500 |
Autosomal Recessive Stickler Syndrome |
|
Vitreoretinopathy, Astigmatism, Retinal detachment, Cataract |
ORPHA:250984 |
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability |
|
Cataract |
OMIM:617404 |
Retinitis Pigmentosa 25 |
|
Optic disc pallor, Posterior subcapsular cataract, Bone spicule pigmentation of the retina, Rod-c... |
OMIM:602772 |
X-Linked Recessive Ocular Albinism |
|
Hypoplasia of the fovea, Ocular albinism, Abnormal pupil morphology, Iris hypopigmentation, Astig... |
ORPHA:54 |
Usher Syndrome Type 3 |
|
Astigmatism, Iris hypopigmentation, Cataract |
ORPHA:231183 |
Tricho-Retino-Dento-Digital Syndrome |
|
Juvenile cataract, Abnormality of retinal pigmentation |
ORPHA:1264 |
Retinitis Pigmentosa 74 |
|
Posterior polar cataract, Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy |
OMIM:616562 |
Achromatopsia 3 |
|
Cataract |
OMIM:262300 |
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome |
|
Cataract, Aplasia/Hypoplasia of the lens |
ORPHA:1381 |
Cataract 2, Multiple Types |
|
Microcornea, Nuclear cataract, Developmental cataract |
OMIM:604307 |
Isolated Optic Nerve Hypoplasia/Aplasia |
|
Chorioretinal coloboma, Optic disc hypoplasia, Optic nerve hypoplasia, Aplasia/Hypoplasia of the ... |
ORPHA:137902 |
Peroxisomal Fatty Acyl-Coa Reductase 1 Disorder |
|
Cataract |
OMIM:616154 |
Peroxisome Biogenesis Disorder 8B |
|
Optic atrophy, Retinal dystrophy, Cataract |
OMIM:614877 |
Isolated Ectopia Lentis |
|
Cataract, Ectopia pupillae, Ectopia lentis |
ORPHA:1885 |
Lissencephaly 5 |
|
Optic atrophy, Cataract |
OMIM:615191 |
Maternally-Inherited Diabetes And Deafness |
|
Abnormal chorioretinal morphology, Macular dystrophy, Cataract, Retinopathy |
ORPHA:225 |
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome |
|
Retinal coloboma, Chorioretinal coloboma, Iris coloboma |
ORPHA:2921 |
Microcoria, Congenital |
|
Microcoria, Hypoplasia of the iris dilator muscle |
OMIM:156600 |
Cataract 23, Multiple Types |
|
Lamellar cataract |
OMIM:610425 |
Microphthalmia, Isolated, With Coloboma 5 |
|
Chorioretinal coloboma, Iris coloboma |
OMIM:611638 |
Corneal Dystrophy, Posterior Polymorphous, 4 |
|
Ectopia pupillae |
OMIM:618031 |
Retinitis Pigmentosa 10 |
|
Optic disc pallor, Posterior subcapsular cataract, Bone spicule pigmentation of the retina, Rod-c... |
OMIM:180105 |
Retinitis Pigmentosa 56 |
|
Nuclear cataract, Optic disc pallor, Posterior subcapsular cataract, Attenuation of retinal blood... |
OMIM:613581 |
Flynn-Aird Syndrome |
|
Cataract, Rod-cone dystrophy |
OMIM:136300 |
Cerebrooculofacioskeletal Syndrome 2 |
|
Developmental cataract, Cataract |
OMIM:610756 |
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation |
|
Cataract |
OMIM:608227 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14 |
|
Cataract |
OMIM:615352 |
Cornea Guttata With Anterior Polar Cataracts |
|
Anterior polar cataract |
OMIM:121390 |
Myopathy, Myofibrillar, 2 |
|
Cataract |
OMIM:608810 |
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type |
|
Cataract |
ORPHA:85172 |
Microcephaly-Brachydactyly-Kyphoscoliosis Syndrome |
|
Cataract |
ORPHA:3433 |
Aniridia-Absent Patella Syndrome |
|
Aniridia, Cataract |
ORPHA:1069 |
Microtia-Eye Coloboma-Imperforation Of The Nasolacrimal Duct Syndrome |
|
Iris coloboma |
ORPHA:139450 |
Hec Syndrome |
|
Abnormal pupil morphology, Developmental cataract, Abnormal retinal vascular morphology |
ORPHA:2119 |
Developmental And Epileptic Encephalopathy 73 |
|
Cataract |
OMIM:618379 |
Cofs Syndrome |
|
Optic atrophy, Abnormality of retinal pigmentation, Cataract |
ORPHA:1466 |
Supernumerary Nostril |
|
Microcornea, Developmental cataract |
ORPHA:141096 |
Stickler Syndrome, Type Ii |
|
Abnormal vitreous humor morphology, Retinal detachment, Cataract |
OMIM:604841 |
1Q21.1 Microduplication Syndrome |
|
Cataract |
ORPHA:250994 |
Retinitis Pigmentosa |
|
Optic atrophy, Abnormality of retinal pigmentation, Abnormal retinal vascular morphology, Catarac... |
ORPHA:791 |
Dermatitis, Atopic |
|
Keratoconus, Cataract, Conjunctivitis |
OMIM:603165 |
Retinitis Pigmentosa 14 |
|
Optic disc pallor, Posterior subcapsular cataract, Bone spicule pigmentation of the retina, Rod-c... |
OMIM:600132 |
Martsolf Syndrome 2 |
|
Developmental cataract, Cataract |
OMIM:619420 |
Retinal Dystrophy With Or Without Macular Staphyloma |
|
Nuclear cataract, Retinal dystrophy |
OMIM:617547 |
Retinitis Pigmentosa 43 |
|
Pigmentary retinopathy, Optic disc pallor, Posterior subcapsular cataract, Bone spicule pigmentat... |
OMIM:613810 |
Aniridia 1 |
|
Corneal erosion, Anterior subcapsular cataract, Ectopia lentis, Hypoplasia of the iris, Aniridia,... |
OMIM:106210 |
Combined Oxidative Phosphorylation Deficiency 13 |
|
Decreased nerve conduction velocity, Cataract |
OMIM:614932 |
Cataract 40 |
|
Nuclear cataract, Sutural cataract |
OMIM:302200 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Cataract |
OMIM:613730 |
Usher Syndrome Type 1 |
|
Cataract, Iris hypopigmentation |
ORPHA:231169 |
Stickler Syndrome Type 1 |
|
Abnormal vitreous humor morphology, Retinal detachment, Cataract |
ORPHA:90653 |
Cataract 24 |
|
Anterior polar cataract |
OMIM:601202 |
Persistent Hyperplastic Primary Vitreous |
|
Developmental cataract, Persistent pupillary membrane, Buphthalmos, Shallow anterior chamber, Tra... |
ORPHA:91495 |
Myopathy, Tubular Aggregate, 1 |
|
Abnormal pupil morphology |
OMIM:160565 |
Nance-Horan Syndrome |
|
Retinal detachment, Microcornea, Cataract |
ORPHA:627 |
Wagr Syndrome |
|
Cataract, Aplasia/Hypoplasia of the iris |
ORPHA:893 |
Retinitis Pigmentosa 72 |
|
Optic disc pallor, Posterior subcapsular cataract, Peripapillary atrophy, Rod-cone dystrophy |
OMIM:616469 |
Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, And Keratoderma |
|
Cataract |
OMIM:609313 |
X-Linked Endothelial Corneal Dystrophy |
|
Nuclear cataract, Corneal opacity, Abnormal corneal endothelium morphology, Band keratopathy |
ORPHA:293621 |
Hypoparathyroidism, Familial Isolated, 1 |
|
Cataract |
OMIM:146200 |
Microphthalmia, Isolated, With Corectopia |
|
Ectopia pupillae |
OMIM:156900 |
Stiff Skin Syndrome |
|
Cataract |
OMIM:184900 |
Bardet-Biedl Syndrome 9 |
|
Retinal degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Cataract, Atte... |
OMIM:615986 |
Distal Monosomy 6P |
|
Hypoplasia of the iris, Posterior embryotoxon, Corneal opacity, Abnormal anterior chamber morphol... |
ORPHA:96125 |
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome |
|
Cataract |
ORPHA:1345 |
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia |
|
Cataract |
ORPHA:1366 |
Linear Verrucous Nevus Syndrome |
|
Iris coloboma, Retinopathy, Cataract, Abnormal cornea morphology, Aplasia/Hypoplasia of the fovea |
ORPHA:2611 |
Ectopia Pupillae |
|
Ectopia pupillae |
OMIM:129750 |
Mevalonic Aciduria |
|
Cataract |
ORPHA:29 |
Joubert Syndrome 9 |
|
Astigmatism, Retinal dystrophy, Cataract |
OMIM:612285 |
Cataracts, Spastic Paraparesis, And Speech Delay |
|
Cataract |
OMIM:619338 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Coloboma, Retinal detachment, Corneal opacity, Cataract |
OMIM:613153 |
Trichothiodystrophy 3, Photosensitive |
|
Cataract |
OMIM:616395 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Retinal detachment, Optic nerve hypoplasia, Cataract |
OMIM:615181 |
Gyrate Atrophy Of Choroid And Retina |
|
Posterior subcapsular cataract, Chorioretinal atrophy |
OMIM:258870 |
Oculopalatocerebral Syndrome |
|
Remnants of the hyaloid vascular system, Leukocoria |
OMIM:257910 |
Vogt-Koyanagi-Harada Disease |
|
Retinal detachment, Cataract |
ORPHA:3437 |
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis |
|
Cataract |
OMIM:615704 |
Peroxisome Biogenesis Disorder 7A (Zellweger) |
|
Cataract |
OMIM:614872 |
Hypergonadotropic Hypogonadism-Cataract Syndrome |
|
Cataract |
ORPHA:2410 |
Dwarfism, Mental Retardation, And Eye Abnormality |
|
Nuclear cataract, Hypoplasia of the iris |
OMIM:223540 |
Retinitis Pigmentosa 66 |
|
Optic disc pallor, Posterior subcapsular cataract, Rod-cone dystrophy |
OMIM:615233 |
Hirschsprung Disease-Ganglioneuroblastoma Syndrome |
|
Abnormal pupil morphology, Aganglionic megacolon |
ORPHA:2151 |
Hypomelanosis Of Ito |
|
Cataract, Iris coloboma |
OMIM:300337 |
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation |
|
Optic atrophy, Retinal fold, Myopic astigmatism, Chorioretinal dysplasia, Chorioretinal lacunae, ... |
OMIM:152950 |
Anisocoria |
|
Anisocoria |
OMIM:106240 |
Alg2-Cdg |
|
Cataract, Iris coloboma |
ORPHA:79326 |
Achondrogenesis Type 2 |
|
Abnormal vitreous humor morphology, Retinal detachment, Cataract, Lens subluxation |
ORPHA:93296 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Sclerocornea, Cataract, Coloboma, Microcornea, Ectopia pupillae |
OMIM:615877 |
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts |
|
Developmental cataract |
OMIM:600559 |
Warburg Micro Syndrome 3 |
|
Optic atrophy, Developmental cataract, Shallow anterior chamber, Cataract, Microcornea |
OMIM:614222 |
Phenylketonuria |
|
Blue irides, Cataract |
OMIM:261600 |
Immunodeficiency 60 And Autoimmunity |
|
Pancytopenia, Decreased basophil count, Decreased proportion of memory B cells, Splenomegaly |
OMIM:618394 |
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract |
|
Optic atrophy, Subcapsular cataract, Decreased nerve conduction velocity, Rod-cone dystrophy |
OMIM:612674 |
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1 |
|
Cataract |
OMIM:224050 |
Ophthalmoplegia, Familial Static |
|
Anisocoria |
OMIM:165000 |
Hereditary Leiomyomatosis And Renal Cell Cancer |
|
Cataract |
ORPHA:523 |
Werner Syndrome |
|
Retinal degeneration, Cataract |
OMIM:277700 |
Aortic Aneurysm, Familial Thoracic 6 |
|
Iris flocculi |
OMIM:611788 |
X-Linked Intellectual Disability, Najm Type |
|
Optic atrophy, Optic nerve hypoplasia, Chorioretinal coloboma, Cataract |
ORPHA:163937 |
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies |
|
Optic atrophy, Cataract |
OMIM:617481 |
Dystonia, Juvenile-Onset |
|
Cataract |
OMIM:607371 |
Microphthalmia With Brain And Digit Anomalies |
|
Chorioretinal coloboma, Sclerocornea, Retinal dystrophy, Iris coloboma, Cataract, Microcornea |
ORPHA:139471 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Leukocytosis, Chronic lymphatic leukemia, Normocytic anemia, Normochromic anemia, Chronic myelomo... |
ORPHA:98849 |
Peroxisome Biogenesis Disorder 10B |
|
Cataract |
OMIM:617370 |
Neonatal Adrenoleukodystrophy |
|
Optic atrophy, Abnormality of retinal pigmentation, Cataract |
ORPHA:44 |
Blepharoptosis, Myopia, And Ectopia Lentis |
|
Ectopia lentis |
OMIM:110150 |
Microcephaly, Growth Retardation, Cataract, Hearing Loss, And Unusual Appearance |
|
Cataract |
OMIM:612947 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Abnormality of retinal pigmentation, Posterior uveitis, Choroidal neovascularization, Chorioretin... |
ORPHA:91500 |
Laurence-Moon Syndrome |
|
Cataract, Iris coloboma |
ORPHA:2377 |
Microphthalmia, Isolated, With Coloboma 9 |
|
Sclerocornea, Iris coloboma, Retinal detachment, Microcornea, Ocular anterior segment dysgenesis |
OMIM:615145 |
Chondrodysplasia Punctata 1, X-Linked Recessive |
|
Cataract |
OMIM:302950 |
Monilethrix |
|
Cataract |
ORPHA:573 |
Congenital Muscular Dystrophy, Fukuyama Type |
|
Optic atrophy, Cataract, Retinal dysplasia |
ORPHA:272 |
Cutis Marmorata Telangiectatica Congenita |
|
Retinal detachment, Leukocoria |
OMIM:219250 |
Facial Spasm |
|
Anisocoria |
OMIM:134300 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Optic atrophy, Abnormality iris morphology, Optic nerve hypoplasia, Retinal detachment, Cataract,... |
ORPHA:370959 |
Congenital Rubella Syndrome |
|
Aplasia/Hypoplasia of the iris, Abnormality of retinal pigmentation, Corneal opacity, Cataract |
ORPHA:290 |
Srd5A3-Cdg |
|
Optic atrophy, Optic disc hypoplasia, Rod-cone dystrophy, Cataract, Coloboma |
ORPHA:324737 |
Neuropathy, Hereditary Sensory And Autonomic, Type Ia |
|
Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, Cataract |
OMIM:162400 |
Posterior Column Ataxia With Retinitis Pigmentosa |
|
Optic atrophy, Attenuation of retinal blood vessels, Decreased sensory nerve conduction velocity,... |
OMIM:609033 |
Pontocerebellar Hypoplasia, Type 16 |
|
Optic atrophy, Cataract |
OMIM:619527 |
Adult-Onset Autosomal Recessive Cerebellar Ataxia |
|
Tortuosity of conjunctival vessels, Cataract, Macular degeneration |
ORPHA:284289 |
Microphthalmia, Syndromic 5 |
|
Retinal dystrophy, Optic nerve hypoplasia, Cataract, Coloboma, Microcornea |
OMIM:610125 |
Autosomal Recessive Spastic Paraplegia Type 26 |
|
Cataract |
ORPHA:101006 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Cataract |
ORPHA:2643 |
Baralle-Macken Syndrome |
|
Cataract |
OMIM:619255 |
Spondylo-Ocular Syndrome |
|
Retinal detachment, Aplasia/Hypoplasia of the lens, Cataract, Iris hypopigmentation |
ORPHA:85194 |
Infantile Refsum Disease |
|
Optic atrophy, Facial palsy, Cataract, Rod-cone dystrophy |
ORPHA:772 |
Weill-Marchesani Syndrome |
|
Cataract, Ectopia lentis |
ORPHA:3449 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Abnormality of peripheral nerve conduction, Microcornea, Cataract |
ORPHA:48431 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Abnormality of retinal pigmentation, Cataract |
ORPHA:3085 |
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs |
|
Iris atrophy, Ectopia lentis |
OMIM:601552 |
Premature Aging Syndrome, Okamoto Type |
|
Cataract |
OMIM:601811 |
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome |
|
Developmental cataract, Cataract |
ORPHA:436174 |
Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
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Cataract, Corneal erosion |
OMIM:614878 |
Spondyloperipheral Dysplasia-Short Ulna Syndrome |
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Retinal detachment, Cataract |
ORPHA:1856 |
3-Methylglutaconic Aciduria, Type Viii |
|
Cataract |
OMIM:617248 |
Microcephaly 10, Primary, Autosomal Recessive |
|
Cataract |
OMIM:615095 |
Refsum Disease, Classic |
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Retinal degeneration, Cataract, Rod-cone dystrophy |
OMIM:266500 |
Nevus Comedonicus Syndrome |
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Cataract |
ORPHA:64754 |
Muscle-Eye-Brain Disease |
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Optic atrophy, Cataract |
ORPHA:588 |
Otodental Syndrome |
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Lens coloboma, Retinal coloboma, Iris coloboma, Cataract, Microcornea |
ORPHA:2791 |
Papillorenal Syndrome |
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Morning glory anomaly, Retinal coloboma, Macular hyperpigmentation, Optic disc coloboma, Macular ... |
OMIM:120330 |
Erythrokeratodermia Variabilis |
|
Corneal opacity, Cataract |
ORPHA:317 |
Eye Defects-Arachnodactyly-Cardiopathy Syndrome |
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Cataract |
ORPHA:2725 |
Hemochromatosis, Type 4 |
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Cataract |
OMIM:606069 |
Pseudopseudohypoparathyroidism |
|
Cataract |
OMIM:612463 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Cataract |
OMIM:251190 |
Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Cataract |
ORPHA:369840 |
Axenfeld-Rieger Syndrome, Type 3 |
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Ectopia pupillae, Hypoplasia of the iris, Posterior embryotoxon |
OMIM:602482 |
Proteus-Like Syndrome |
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Limbal dermoid, Heterochromia iridis, Abnormal pupil morphology, Retinal detachment, Cataract |
ORPHA:2969 |
Triopia |
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Abnormal pupil morphology, Microcornea, Iris coloboma |
ORPHA:3374 |
Combined Oxidative Phosphorylation Deficiency 47 |
|
Cataract |
OMIM:618958 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Cataract |
ORPHA:2772 |
Familial Isolated Hypoparathyroidism |
|
Cataract |
ORPHA:2238 |
Oligoarticular Juvenile Idiopathic Arthritis |
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Anterior chamber synechiae, Band keratopathy, Uveitis, Cataract |
ORPHA:85410 |
Ifap Syndrome 2 |
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Keratoconjunctivitis sicca, Cataract, Keratitis |
OMIM:619016 |
4H Leukodystrophy |
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Optic atrophy, Cataract |
ORPHA:289494 |
Mental Retardation, X-Linked, Syndromic 17 |
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Anisocoria |
OMIM:300858 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
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Cataract |
OMIM:618805 |
Spastic Paraplegia 9B, Autosomal Recessive |
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Cataract |
OMIM:616586 |
Alport Syndrome 2, Autosomal Recessive |
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Cataract, Corneal erosion, Anterior lenticonus |
OMIM:203780 |
Spastic Paraplegia 26, Autosomal Recessive |
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Cataract |
OMIM:609195 |
Rhizomelic Chondrodysplasia Punctata |
|
Cataract |
ORPHA:177 |
Hereditary Mucoepithelial Dysplasia |
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Cataract, Corneal dystrophy |
ORPHA:1839 |
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant |
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Conjunctivitis, Cataract, Keratitis |
OMIM:612843 |
Cahmr Syndrome |
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Lamellar cataract |
OMIM:211770 |
Warburg Micro Syndrome 2 |
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Optic atrophy, Microcornea, Cataract, Developmental cataract |
OMIM:614225 |
Enamel Hypoplasia, Cataracts, And Aqueductal Stenosis |
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Subcapsular cataract |
OMIM:600907 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
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Coloboma, Retinal degeneration, Cataract |
OMIM:615249 |
Oculo-Palato-Cerebral Syndrome |
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Leukocoria, Remnants of the hyaloid vascular system, Retinal detachment, Cataract |
ORPHA:2714 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14 |
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Cataract |
OMIM:615351 |
Congenital Microcoria |
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Nuclear cataract, Developmental cataract, Corneal stromal edema, Iris transillumination defect, H... |
ORPHA:566 |
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome |
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Optic atrophy, Optic nerve hypoplasia, Corneal opacity, Cataract |
ORPHA:496790 |
Vitamin K Antagonist Embryofetopathy |
|
Optic atrophy, Cataract |
ORPHA:1914 |
Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Cataract |
OMIM:614105 |
Frontofacionasal Dysplasia |
|
Limbal dermoid, Brushfield spots, Iris coloboma, Cataract, Microcornea |
ORPHA:1791 |
Flynn-Aird Syndrome |
|
Cataract, Rod-cone dystrophy |
ORPHA:2047 |
Alpha-N-Acetylgalactosaminidase Deficiency |
|
Cataract |
ORPHA:3137 |
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy |
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Retinal dystrophy, Buphthalmos, Cataract |
ORPHA:370997 |
Pierson Syndrome |
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Microcoria, Posterior lenticonus, Hypoplasia of the iris, Rieger anomaly, Hypoplasia of the cilia... |
OMIM:609049 |
Short Syndrome |
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Hypoplasia of the iris, Posterior embryotoxon, Abnormal pupil morphology, Corneal opacity, Megalo... |
ORPHA:3163 |
Rhizomelic Chondrodysplasia Punctata, Type 2 |
|
Cataract |
OMIM:222765 |
Multiple Sulfatase Deficiency |
|
Optic atrophy, Abnormality of retinal pigmentation, Corneal opacity, Cataract, Abnormality of per... |
ORPHA:585 |
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Optic atrophy, Cataract |
OMIM:617913 |
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Macular atrophy, Optic disc pallor, Retinal degeneration, Abnormal auditory evoked potentials, Ma... |
OMIM:619260 |
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects |
|
Cataract |
OMIM:608885 |
Myotonic Dystrophy 1 |
|
Facial diplegia, Cataract |
OMIM:160900 |
Donnai-Barrow Syndrome |
|
Hypoplasia of the iris, Retinal dystrophy, Iris coloboma, Retinal detachment, Cataract |
OMIM:222448 |
Mend Syndrome |
|
Cataract |
OMIM:300960 |
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Cataract, Abnormal sensory nerve con... |
ORPHA:88628 |
Walker-Warburg Syndrome |
|
Optic atrophy, Abnormality of the optic nerve, Retinal dysplasia, Retinal dystrophy, Chorioretina... |
ORPHA:899 |
Spondyloocular Syndrome |
|
Retinal detachment, Cataract |
OMIM:605822 |
Severe Oculo-Renal-Cerebellar Syndrome |
|
Optic atrophy, Abnormality of retinal pigmentation, Abnormal retinal vascular morphology, Cataract |
ORPHA:2715 |
Usher Syndrome Type 2 |
|
Cataract, Iris hypopigmentation |
ORPHA:231178 |
Ectodermal Dysplasia-Blindness Syndrome |
|
Keratoconjunctivitis sicca, Sclerocornea, Corneal dystrophy, Cataract, Microcornea |
ORPHA:1806 |
Congenital Bile Acid Synthesis Defect Type 4 |
|
Cataract, Pigmentary retinopathy |
ORPHA:79095 |
Vici Syndrome |
|
Optic atrophy, Abnormality of retinal pigmentation, Cataract, Abnormal macular morphology |
ORPHA:1493 |
Developmental Malformations-Deafness-Dystonia Syndrome |
|
Cataract |
ORPHA:79107 |
Hereditary Bullous Dystrophy, Macular Type |
|
Corneal opacity, Cataract |
ORPHA:1867 |
Alpha-Mannosidosis, Adult Form |
|
Optic disc pallor, Corneal opacity, Cataract |
ORPHA:309288 |
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Optic atrophy, Astigmatism, Cataract, Ectopia pupillae |
OMIM:618727 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Microcornea, Cataract |
OMIM:616449 |
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome |
|
Cataract |
ORPHA:369847 |
1Q41Q42 Microdeletion Syndrome |
|
Abnormality iris morphology |
ORPHA:250999 |
Nephronophthisis 11 |
|
Anisocoria, Retinal degeneration |
OMIM:613550 |
Gorlin Syndrome |
|
Cataract, Iris coloboma |
ORPHA:377 |
Xeroderma Pigmentosum, Complementation Group B |
|
Decreased nerve conduction velocity, Optic atrophy, Cataract, Pigmentary retinopathy |
OMIM:610651 |
Oculofaciocardiodental Syndrome |
|
Ectopia lentis, Iris coloboma, Retinal detachment, Cataract, Microcornea |
ORPHA:2712 |
Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Cataract, Iris hypopigmentation, Ocular albinism |
ORPHA:2720 |
Autoimmune Polyendocrinopathy Type 1 |
|
Opacification of the corneal stroma, Cataract |
ORPHA:3453 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Conjunctival hyperemia, Coloboma, Corneal opacity, Cataract |
ORPHA:2399 |
Lymphedema-Hypoparathyroidism Syndrome |
|
Cataract |
OMIM:247410 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Macular atrophy, Abnormality of retinal pigmentation, Lens subluxation, Retinal atrophy, Retinal ... |
ORPHA:85167 |
Tetraamelia-Multiple Malformations Syndrome |
|
Optic atrophy, Septo-optic dysplasia, Iris coloboma, Cataract, Microcornea |
ORPHA:3301 |
Classic Phenylketonuria |
|
Cataract |
ORPHA:79254 |
Harlequin Ichthyosis |
|
Cataract |
ORPHA:457 |
Galactosemia I |
|
Cataract |
OMIM:230400 |
Blau Syndrome |
|
Abnormal cranial nerve morphology, Nongranulomatous uveitis, Uveitis, Cystoid macular edema, Cata... |
OMIM:186580 |
Osteoporosis-Pseudoglioma Syndrome |
|
Iris atrophy, Absent anterior chamber of the eye, Cataract, Vitreoretinopathy |
OMIM:259770 |
Galactokinase Deficiency |
|
Nuclear cataract, Cataract |
ORPHA:79237 |
Juvenile Sialidosis Type 2 |
|
Optic atrophy, Corneal opacity, Cataract, Cherry red spot of the macula |
ORPHA:93399 |
Collagenoma, Familial Cutaneous |
|
Iris atrophy |
OMIM:115250 |
Congenital Sialidosis Type 2 |
|
Optic atrophy, Developmental cataract, Hypoplasia of the fovea, Cherry red spot of the macula, Co... |
ORPHA:93400 |
Megalocornea-Intellectual Disability Syndrome |
|
Hypoplasia of the iris, Iridodonesis, Megalocornea, Astigmatism, Abnormal anterior chamber morpho... |
ORPHA:2479 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Brushfield spots, Cataract, Pigmentary retinopathy, Opacification of the corneal stroma, Optic ne... |
OMIM:614866 |
Refsum Disease |
|
Abnormality of retinal pigmentation, Cataract, Retinopathy |
ORPHA:773 |
Mietens Syndrome |
|
Sclerocornea, Microcornea, Corneal opacity, Cataract |
ORPHA:2557 |
Saul-Wilson Syndrome |
|
Cataract |
OMIM:618150 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Brushfield spots, Cataract, Pigmentary retinopathy, Opacification of the corneal stroma, Optic ne... |
OMIM:214110 |
Familial Dysautonomia |
|
Optic atrophy, Corneal erosion, Orthostatic hypotension, Heterochromia iridis, Abnormal pupil mor... |
ORPHA:1764 |
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive |
|
Cataract |
OMIM:615418 |
Congenital Tufting Enteropathy |
|
Optic disc coloboma, Cataract, Corneal erosion, Punctate keratitis |
ORPHA:92050 |
Achalasia-Addisonianism-Alacrima Syndrome |
|
Orthostatic hypotension, Optic atrophy, Anisocoria, Abnormal autonomic nervous system physiology |
OMIM:231550 |
Axenfeld-Rieger Syndrome, Type 1 |
|
Polycoria, Posterior embryotoxon, Hypoplasia of the iris, Aniridia, Rieger anomaly, Megalocornea,... |
OMIM:180500 |
Craniosynostosis With Ocular Abnormalities And Hallucal Defects |
|
Microcornea, Cataract |
OMIM:608279 |
3Q29 Microduplication Syndrome |
|
Sclerocornea, Cataract, Aniridia, Iris coloboma |
ORPHA:251038 |
Stromme Syndrome |
|