Cataract 4, Multiple Types |
|
Developmental cataract |
OMIM:115700 |
Cataract 13 With Adult I Phenotype |
|
Developmental cataract |
OMIM:116700 |
Cataract 37 |
|
Developmental cataract |
OMIM:614422 |
Cataract 45 |
|
Developmental cataract |
OMIM:616851 |
Cataract 38 |
|
Developmental cataract |
OMIM:614691 |
Ectopia Lentis 2, Isolated, Autosomal Recessive |
|
Ectopia lentis |
OMIM:225100 |
Ectopia Lentis 1, Isolated, Autosomal Dominant |
|
Ectopia lentis |
OMIM:129600 |
Hereditary Hyperferritinemia-Cataract Syndrome |
|
Cataract |
ORPHA:163 |
Cataract 35 |
|
Cataract |
OMIM:609376 |
Cataract 36 |
|
Cataract |
OMIM:613887 |
Cataract 29 |
|
Cataract |
OMIM:115800 |
Cataract 3, Multiple Types |
|
Nuclear pulverulent cataract, Sutural cataract, Cerulean cataract, Developmental cataract |
OMIM:601547 |
Cataract 1, Multiple Types |
|
Microcornea, Posterior subcapsular cataract, Nuclear cataract, Pulverulent cataract |
OMIM:116200 |
Cataract 10, Multiple Types |
|
Nuclear cataract, Zonular cataract, Posterior Y-sutural cataract, Developmental cataract |
OMIM:600881 |
Hypertrophic Neuropathy And Cataract |
|
Cataract |
OMIM:239900 |
Cataract 8, Multiple Types |
|
Nuclear cataract, Developmental cataract |
OMIM:115665 |
Cataract 22, Multiple Types |
|
Nuclear cataract, Developmental cataract |
OMIM:609741 |
Cataract 14, Multiple Types |
|
Zonular cataract |
OMIM:601885 |
Cataract And Congenital Ichthyosis |
|
Cataract |
OMIM:212400 |
Cochleosaccular Degeneration With Progressive Cataracts |
|
Progressive cataract |
OMIM:120040 |
Hyperferritinemia With Or Without Cataract |
|
Nuclear cataract, Pulverulent cataract |
OMIM:600886 |
Cataract 44 |
|
Developmental cataract |
OMIM:616509 |
Cataract 41 |
|
Nuclear cataract |
OMIM:116400 |
Cataract, Age-Related Nuclear |
|
Nuclear cataract |
OMIM:601371 |
Cataract 18 |
|
Nuclear cataract |
OMIM:610019 |
Cataract 20, Multiple Types |
|
Lamellar cataract, Membranous cataract, Sutural cataract, Cortical cataract |
OMIM:116100 |
Cataract 40 |
|
Nuclear cataract, Sutural cataract |
OMIM:302200 |
Cataract 31, Multiple Types |
|
Posterior subcapsular cataract, Anterior subcapsular cataract, Nuclear cataract |
OMIM:605387 |
Glaucoma-Ectopia Lentis-Microspherophakia-Stiff Joints-Short Stature Syndrome |
|
Ectopia lentis |
ORPHA:2084 |
Hydrocephaly-Cerebellar Agenesis Syndrome |
|
Cataract, Cerebellar agenesis |
ORPHA:1397 |
Cataract 17, Multiple Types |
|
Microcornea, Nuclear cataract, Pulverulent cataract, Developmental cataract |
OMIM:611544 |
Kyrle Disease |
|
Posterior subcapsular cataract |
OMIM:149500 |
Cataract 43 |
|
Posterior subcapsular cataract |
OMIM:616279 |
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome |
|
Cerebellar vermis hypoplasia, Cataract, Dandy-Walker malformation |
ORPHA:73245 |
Cataract 2, Multiple Types |
|
Aculeiform cataract, Nuclear pulverulent cataract, Developmental cataract, Microcornea, Nuclear c... |
OMIM:604307 |
Cataract 5, Multiple Types |
|
Pulverulent cataract, Nuclear cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract |
OMIM:116800 |
Trichomegaly |
|
Cataract |
OMIM:190330 |
Cataract 19, Multiple Types |
|
Cortical pulverulent cataract |
OMIM:615277 |
Aldh18A1-Related De Barsy Syndrome |
|
Cataract |
ORPHA:35664 |
Anterior Segment Dysgenesis 8 |
|
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Hypoplasia of the iris, Iris transillumi... |
OMIM:617319 |
Cataract 12, Multiple Types |
|
Progressive cataract, Developmental cataract |
OMIM:611597 |
Cataract 15, Multiple Types |
|
Lamellar cataract, Nuclear cataract, Cortical cataract |
OMIM:615274 |
Cataract 33, Multiple Types |
|
Lamellar cataract, Nuclear cataract, Cortical cataract |
OMIM:611391 |
Cataract 42 |
|
Cataract, Developmental cataract |
OMIM:115900 |
Cataract 7 |
|
Developmental cataract |
OMIM:115660 |
Cataract 30, Multiple Types |
|
Posterior polar cataract, Diffuse nuclear cataract, Pulverulent cataract |
OMIM:116300 |
Corneal Dystrophy, Groenouw Type I |
|
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy |
OMIM:121900 |
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy |
|
Juvenile cataract |
OMIM:212500 |
Galactosemia Iv |
|
Cataract |
OMIM:618881 |
Nathalie Syndrome |
|
Cataract |
ORPHA:2663 |
Pupillary Membrane, Persistence Of |
|
Developmental cataract, Megalocornea, Persistent pupillary membrane |
OMIM:178900 |
X-Linked Endothelial Corneal Dystrophy |
|
Abnormal corneal endothelium morphology, Nuclear cataract, Corneal opacity, Band keratopathy |
ORPHA:293621 |
Uncombable Hair Syndrome 2 |
|
Juvenile cataract |
OMIM:617251 |
Peters Anomaly |
|
Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c... |
ORPHA:708 |
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities |
|
Cataract |
OMIM:300719 |
Corneal Dystrophy, Lisch Epithelial |
|
Corneal dystrophy |
OMIM:300778 |
Microphthalmia, Isolated, With Coloboma 3 |
|
Microphthalmia, Cataract, Iris coloboma |
OMIM:610092 |
Foveal Hypoplasia 1 |
|
Hypoplasia of the fovea, Presenile cataracts |
OMIM:136520 |
Congenital Primary Aphakia |
|
Microphthalmia, Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye,... |
ORPHA:83461 |
Chorea, Remitting, With Nystagmus And Cataract |
|
Cataract |
OMIM:601372 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 3 |
|
Cataract |
ORPHA:79281 |
Cataract 39, Multiple Types |
|
Lamellar cataract, Anterior polar cataract, Developmental cataract |
OMIM:615188 |
Cataract-Ataxia-Deafness-Retardation Syndrome |
|
Developmental cataract |
OMIM:212710 |
Spinocerebellar Ataxia, Autosomal Recessive 24 |
|
Cerebellar atrophy, Cataract |
OMIM:617133 |
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract |
|
Microcornea, Cataract, Aniridia |
OMIM:106230 |
Microphthalmia, Isolated, With Cataract 1 |
|
Microphthalmia, Cataract |
OMIM:156850 |
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness |
|
Cataract |
OMIM:274205 |
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay |
|
Cataract, Developmental cataract |
OMIM:613076 |
Foveal Hypoplasia-Presenile Cataract Syndrome |
|
Cataract |
ORPHA:2253 |
Galactosemia Ii |
|
Cataract |
OMIM:230200 |
X-Linked Retinoschisis |
|
Cataract |
ORPHA:792 |
Cataract 21, Multiple Types |
|
Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent cataract, Peters anomaly, I... |
OMIM:610202 |
Iris Pigment Layer, Cleavage Of |
|
Cataract |
OMIM:147610 |
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism |
|
Cataract |
OMIM:254000 |
Cataract-Microcornea Syndrome |
|
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma |
ORPHA:1377 |
Neutropenia, Severe Congenital, 9, Autosomal Dominant |
|
Cataract |
OMIM:619813 |
Cataract 47 |
|
Microcornea, Cataract |
OMIM:612018 |
Hypoalphalipoproteinemia, Primary, 2 |
|
Corneal arcus, Cataract |
OMIM:618463 |
Hypomyelination-Congenital Cataract Syndrome |
|
Abnormal cerebellum morphology, Developmental cataract |
ORPHA:85163 |
Glaucoma 3, Primary Congenital, D |
|
Corneal opacity, Primary congenital glaucoma, Ectopia lentis |
OMIM:613086 |
Aniridia-Intellectual Disability Syndrome |
|
Aniridia, Cataract, Optic nerve hypoplasia, Ectopia lentis |
ORPHA:1068 |
Anterior Segment Dysgenesis 2 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber... |
OMIM:610256 |
Spastic Paraparesis And Deafness |
|
Cataract |
OMIM:312910 |
Cataract 23, Multiple Types |
|
Lamellar cataract |
OMIM:610425 |
Spinocerebellar Degeneration With Macular Corneal Dystrophy, Congenital Cataracts, And Myopia |
|
Corneal dystrophy, Developmental cataract |
OMIM:271320 |
Cataract 11, Multiple Types |
|
Microphthalmia, Cataract, Developmental cataract |
OMIM:610623 |
Blindness-Scoliosis-Arachnodactyly Syndrome |
|
Cataract, Lens subluxation, Microphakia |
ORPHA:171844 |
Proximal Myotonic Myopathy |
|
Cataract |
ORPHA:606 |
Cataract 50 With Or Without Glaucoma |
|
Cataract, Persistent pupillary membrane |
OMIM:620253 |
Hemolytic Anemia Due To Glutathione Reductase Deficiency |
|
Cataract |
OMIM:618660 |
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome |
|
Hypoplasia of penis, Cataract, Hypospadias, Aplasia/Hypoplasia of the lens, Cryptorchidism |
ORPHA:1381 |
Microcornea, Myopic Chorioretinal Atrophy, And Telecanthus |
|
Microcornea, Posterior subcapsular cataract |
OMIM:615458 |
Nathalie Syndrome |
|
Cataract |
OMIM:255990 |
Cahmr Syndrome |
|
Lamellar cataract |
OMIM:211770 |
Cortical Dysplasia, Complex, With Other Brain Malformations 4 |
|
Cataract |
OMIM:615412 |
Cataract-Nephropathy-Encephalopathy Syndrome |
|
Cataract |
ORPHA:1380 |
Myopia 17, Autosomal Dominant |
|
Presenile cataracts |
OMIM:608367 |
Cataract 9, Multiple Types |
|
Progressive cataract, Cataract, Developmental cataract, Microcornea, Microphthalmia, Iris coloboma |
OMIM:604219 |
Corneal Dystrophy, Posterior Polymorphous, 2 |
|
Corneal opacity, Corneal dystrophy |
OMIM:609140 |
Cataract, Ataxia, Short Stature, And Impaired Intellectual Development |
|
Posterior subcapsular cataract |
OMIM:300619 |
Retinitis Pigmentosa 37 |
|
Posterior subcapsular cataract, Nuclear cataract |
OMIM:611131 |
Optic Atrophy 3, Autosomal Dominant |
|
Cataract |
OMIM:165300 |
Dysequilibrium Syndrome |
|
Cataract |
ORPHA:1766 |
Retinitis Pigmentosa 56 |
|
Posterior subcapsular cataract, Nuclear cataract |
OMIM:613581 |
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1 |
|
Microcornea, Cataract |
OMIM:619082 |
Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Microcornea, Microphthalmia, Cataract, Hypogonadism |
ORPHA:2528 |
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Abnormality of the ovary, Cataract, Hypogonadism, Decreased testicular size |
ORPHA:1875 |
Bardet-Biedl Syndrome 18 |
|
Cataract |
OMIM:615995 |
Myopia 28, Autosomal Recessive |
|
Cataract |
OMIM:619781 |
Schnyder Corneal Dystrophy |
|
Corneal dystrophy, Crystalline corneal dystrophy |
OMIM:121800 |
Central Cloudy Dystrophy Of Francois |
|
Central corneal dystrophy, Corneal dystrophy |
OMIM:217600 |
Spastic Paraparesis-Deafness Syndrome |
|
Cataract, Hypogonadism |
ORPHA:2815 |
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma |
|
Iridodonesis, Ectopia lentis, Microspherophakia, Deep anterior chamber, Buphthalmos, Megalocornea |
OMIM:251750 |
Retinal Dystrophy With Or Without Macular Staphyloma |
|
Posterior subcapsular cataract, Nuclear cataract |
OMIM:617547 |
Weill-Marchesani Syndrome 3 |
|
Shallow anterior chamber, Microspherophakia, Ectopia lentis |
OMIM:614819 |
Aniridia 2 |
|
Aniridia, Iris coloboma, Cataract, Lens subluxation |
OMIM:617141 |
Corneal Dystrophy, Endothelial, X-Linked |
|
Corneal opacity, Corneal dystrophy, Band keratopathy |
OMIM:300779 |
Cataract-Deafness-Hypogonadism Syndrome |
|
Developmental cataract |
ORPHA:1383 |
Isolated Aniridia |
|
Aniridia, Cataract, Aplasia/Hypoplasia of the macula, Peters anomaly |
ORPHA:250923 |
Optic Atrophy 10 With Or Without Ataxia, Impaired Intellectual Development, And Seizures |
|
Cerulean cataract |
OMIM:616732 |
Retinitis Pigmentosa 46 |
|
Posterior subcapsular cataract |
OMIM:612572 |
Retinitis Pigmentosa 13 |
|
Subcapsular cataract |
OMIM:600059 |
Dermoids Of Cornea |
|
Corneal opacity |
OMIM:304730 |
Megalocornea |
|
Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d... |
OMIM:309300 |
Nance-Horan Syndrome |
|
Microcornea, Posterior Y-sutural cataract, Developmental cataract |
OMIM:302350 |
Dermochondrocorneal Dystrophy |
|
Subepithelial corneal opacities, Corneal dystrophy, Anterior cortical cataract |
OMIM:221800 |
Cataract 49 |
|
Posterior cortical cataract |
OMIM:619593 |
Anterior Segment Dysgenesis 3 |
|
Rieger anomaly, Cerebellar vermis hypoplasia, Ectopia pupillae, Hypoplastic iris stroma, Axenfeld... |
OMIM:601631 |
Leber Congenital Amaurosis 7 |
|
Keratoconus, Cataract |
OMIM:613829 |
Gyrate Atrophy Of Choroid And Retina |
|
Cataract, Subcapsular cataract |
ORPHA:414 |
Retinitis Pigmentosa 40 |
|
Cataract |
OMIM:613801 |
Exfoliation Syndrome |
|
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab... |
OMIM:177650 |
Autosomal Recessive Spastic Paraplegia Type 69 |
|
Cataract, Aplasia/Hypoplasia of the cerebellar vermis |
ORPHA:401830 |
Exudative Vitreoretinopathy 4 |
|
Subcapsular cataract |
OMIM:601813 |
Congenital Microcoria |
|
Developmental cataract, Corneal stromal edema, Iris transillumination defect, Nuclear cataract, A... |
ORPHA:566 |
Thanatophoric Dysplasia, Glasgow Variant |
|
Cataract |
OMIM:273680 |
Pellagra-Like Syndrome |
|
Cataract |
OMIM:260650 |
Aniridia And Absent Patella |
|
Aniridia, Cataract |
OMIM:106220 |
Leg, Absence Deformity Of, With Congenital Cataract |
|
Progressive cataract, Developmental cataract |
OMIM:246000 |
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract |
|
Subcapsular cataract, Cataract |
OMIM:612674 |
Glaucoma 3, Primary Infantile, B |
|
Primary congenital glaucoma |
OMIM:600975 |
Coats Disease |
|
Aplasia/Hypoplasia of the iris, Cataract, Abnormal anterior chamber morphology |
ORPHA:190 |
Gyrate Atrophy Of Choroid And Retina |
|
Posterior subcapsular cataract |
OMIM:258870 |
Aniridia 3 |
|
Aniridia, Cataract |
OMIM:617142 |
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome |
|
Cataract |
ORPHA:2278 |
Retinitis Pigmentosa 77 |
|
Posterior subcapsular cataract |
OMIM:617304 |
Peroxisome Biogenesis Disorder 10A (Zellweger) |
|
Cataract |
OMIM:614882 |
Anterior Segment Dysgenesis 7 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... |
OMIM:269400 |
Exudative Vitreoretinopathy 6 |
|
Nuclear cataract, Cataract, Cortical cataract |
OMIM:616468 |
Autosomal Dominant Optic Atrophy And Cataract |
|
Anterior subcapsular cataract, Cataract, Posterior cortical cataract, Cerulean cataract, Anterior... |
ORPHA:67036 |
Retinitis Pigmentosa 66 |
|
Posterior subcapsular cataract |
OMIM:615233 |
Cochleosaccular Degeneration-Cataract Syndrome |
|
Cataract |
ORPHA:3233 |
Uveal Melanoma |
|
Iris melanoma, Inferior lens subluxation, Zonular cataract, Ciliary body melanoma, Mydriasis |
ORPHA:39044 |
Ectopia Lentis Et Pupillae |
|
Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Persistent pupillary m... |
OMIM:225200 |
Autosomal Dominant Keratitis |
|
Hypoplasia of the fovea, Cataract, Keratitis, Abnormal corneal limbus morphology, Bilateral micro... |
ORPHA:2334 |
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of |
|
Sutural cataract |
OMIM:201470 |
Retinitis Pigmentosa 83 |
|
Posterior subcapsular cataract |
OMIM:618173 |
Retinitis Pigmentosa 14 |
|
Posterior subcapsular cataract |
OMIM:600132 |
Hypogonadism-Cataract Syndrome |
|
Cataract |
OMIM:240950 |
Galactokinase Deficiency |
|
Cataract, Hypergonadotropic hypogonadism, Premature ovarian insufficiency, Hyperinsulinemia, Nucl... |
ORPHA:79237 |
Cataract 48 |
|
Cataract |
OMIM:618415 |
Chanarin-Dorfman Syndrome |
|
Subcapsular cataract |
OMIM:275630 |
Retinitis Pigmentosa 25 |
|
Posterior subcapsular cataract |
OMIM:602772 |
Cornea Guttata With Anterior Polar Cataracts |
|
Anterior polar cataract |
OMIM:121390 |
Leber Congenital Amaurosis 6 |
|
Keratoconus, Cataract |
OMIM:613826 |
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Cataract, External genital hypoplasia, Cryptorchidism, Hypogonadism, Microphthalmia |
ORPHA:363741 |
Leukoencephalopathy With Vanishing White Matter 2 |
|
Cataract |
OMIM:620312 |
Congenital Varicella Syndrome |
|
Microphthalmia, Cataract |
ORPHA:291 |
Retinitis Pigmentosa 23 |
|
Posterior subcapsular cataract |
OMIM:300424 |
Intellectual Developmental Disorder And Retinitis Pigmentosa |
|
Posterior subcapsular cataract |
OMIM:618195 |
Xp22.3 Microdeletion Syndrome |
|
Hypogonadotropic hypogonadism, Decreased fertility, Secondary amenorrhea, Polycystic ovaries, Opa... |
ORPHA:1643 |
Anterior Segment Dysgenesis 1 |
|
Microcornea, Opacification of the corneal stroma, Peters anomaly, Posterior polar cataract, Ocula... |
OMIM:107250 |
Hypergonadotropic Hypogonadism-Cataract Syndrome |
|
Cataract, Hypergonadotropic hypogonadism, Increased circulating gonadotropin level, Absence of se... |
ORPHA:2410 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3 |
|
Cataract |
OMIM:609115 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane |
ORPHA:1067 |
Blepharoptosis, Myopia, And Ectopia Lentis |
|
Ectopia lentis |
OMIM:110150 |
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Microphthalmia, Cataract, Iris coloboma |
OMIM:120433 |
Stickler Syndrome Type 2 |
|
Cataract, Corneal opacity |
ORPHA:90654 |
Oculoauricular Syndrome |
|
Cataract, Sclerocornea, Developmental cataract, Microcornea, Iris cyst, Posterior synechiae of th... |
OMIM:612109 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Microphthalmia, Cryptorchidism, Cataract, Hypogonadism |
OMIM:601794 |
Retinitis Pigmentosa 10 |
|
Posterior subcapsular cataract |
OMIM:180105 |
Cataract 24 |
|
Anterior polar cataract |
OMIM:601202 |
Retinitis Pigmentosa 82 With Or Without Situs Inversus |
|
Posterior subcapsular cataract |
OMIM:615434 |
Cataract 32, Multiple Types |
|
Anterior polar cataract |
OMIM:115650 |
Cofs Syndrome |
|
Microphthalmia, Cataract, Hypogonadism |
ORPHA:1466 |
Retinitis Pigmentosa 43 |
|
Posterior subcapsular cataract |
OMIM:613810 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type |
|
Cataract |
OMIM:300261 |
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism |
|
Subcapsular cataract |
OMIM:268020 |
Spondylo-Ocular Syndrome |
|
Cataract, Microphthalmia, Aplasia/Hypoplasia of the lens, Iris hypopigmentation |
ORPHA:85194 |
Lowe Oculocerebrorenal Syndrome |
|
Cryptorchidism, Corneal scarring, Developmental cataract, Microphthalmia, Dense posterior cortica... |
OMIM:309000 |
Anterior Segment Dysgenesis 5 |
|
Hypoplasia of the fovea, Rieger anomaly, Sclerocornea, Developmental cataract, Microcornea, Hypop... |
OMIM:604229 |
Retinitis Pigmentosa 72 |
|
Posterior subcapsular cataract |
OMIM:616469 |
Absence Deformity Of Leg-Cataract Syndrome |
|
Cataract |
ORPHA:2310 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Cataract, Hypergonadotropic hypogonadism, Cryptorchidism, Hyperinsulinemia, Secondary amenorrhea,... |
ORPHA:3085 |
Knobloch Syndrome 2 |
|
Patent ductus arteriosus, Anterior cortical cataract |
OMIM:618458 |
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome |
|
Cataract, Corneal dystrophy |
ORPHA:1369 |
Myopia, High, With Cataract And Vitreoretinal Degeneration |
|
Cataract, Lens subluxation |
OMIM:614292 |
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts |
|
Cataract |
OMIM:183800 |
Exudative Vitreoretinopathy 1 |
|
Subcapsular cataract |
OMIM:133780 |
X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Cataract |
ORPHA:85288 |
Retinitis Pigmentosa 9 |
|
Cataract |
OMIM:180104 |
Vitreoretinal Degeneration, Snowflake Type |
|
Cataract, Corneal guttata |
OMIM:193230 |
Kahrizi Syndrome |
|
Cataract, Iris coloboma |
OMIM:612713 |
Retinitis Pigmentosa 60 |
|
Posterior subcapsular cataract |
OMIM:613983 |
Insulinomatosis And Diabetes Mellitus |
|
Developmental glaucoma, Developmental cataract |
OMIM:147630 |
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome |
|
Cataract |
OMIM:610156 |
Bilateral Acute Depigmentation Of The Iris |
|
Iris pigment dispersion, Abnormal corneal endothelium morphology, Abnormal iris pigmentation, Pig... |
ORPHA:69736 |
Cataract 6, Multiple Types |
|
Posterior polar cataract, Developmental cataract |
OMIM:116600 |
Edict Syndrome |
|
Keratoconus, Microcornea, Hypoplasia of the iris, Astigmatism, Anterior polar cataract |
OMIM:614303 |
Microphthalmia, Isolated, With Coloboma 4 |
|
Microcornea, Microphthalmia |
OMIM:251505 |
Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Microcornea, Microphthalmia, Corneal opacity |
ORPHA:2432 |
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome |
|
Nuclear cataract |
ORPHA:2848 |
Aniridia 1 |
|
Anterior subcapsular cataract, Cataract, Ectopia lentis, Corneal erosion, Hypoplasia of the iris,... |
OMIM:106210 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Microcornea, Microphthalmia, Cataract, Hypogonadotropic hypogonadism |
ORPHA:48431 |
Premature Ovarian Failure 12 |
|
Microphthalmia, Primary amenorrhea |
OMIM:616947 |
Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Cataract |
OMIM:614876 |
Retinitis Pigmentosa 86 |
|
Cortical cataract |
OMIM:618613 |
Cataract-Aberrant Oral Frenula-Growth Delay Syndrome |
|
Cataract |
ORPHA:1373 |
Crome Syndrome |
|
Cerebellar dysplasia, Developmental cataract |
OMIM:218900 |
Leber Congenital Amaurosis 16 |
|
Cataract |
OMIM:614186 |
Corneal Dystrophy, Fuchs Endothelial, 1 |
|
Corneal dystrophy, Corneal stromal edema, Corneal guttata, Corneal degeneration, Descemet Membran... |
OMIM:136800 |
Upper Limb Defect-Eye And Ear Abnormalities Syndrome |
|
Cataract |
ORPHA:2489 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Cerebellar dysplasia, Cataract, Optic nerve hypoplasia, Hypoplasia of the pons, Cerebellar hypopl... |
OMIM:615181 |
Chromosome Xp11.3 Deletion Syndrome |
|
Posterior subcapsular cataract, Cataract |
OMIM:300578 |
Cardiomyopathy, Dilated, 1Ii |
|
Cataract |
OMIM:615184 |
Peroxisomal Fatty Acyl-Coa Reductase 1 Disorder |
|
Cataract, Cerebellar vermis atrophy, Dandy-Walker malformation |
OMIM:616154 |
Xeroderma Pigmentosum, Complementation Group G |
|
Cataract |
OMIM:278780 |
X-Linked Immunoneurologic Disorder |
|
Cataract |
ORPHA:2571 |
Chromosome 11P13 Deletion Syndrome, Distal |
|
Aniridia |
OMIM:616902 |
Amoebic Keratitis |
|
Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anterior chamber morphol... |
ORPHA:67043 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Cerebellar atrophy, Cataract, Hypoplasia of the pons, Microcornea, Cerebellar hypoplasia, Microph... |
OMIM:616171 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Microphthalmia, Cryptorchidism, Cataract |
OMIM:613730 |
1Q21.1 Microduplication Syndrome |
|
Cryptorchidism, Cataract, Hypospadias |
ORPHA:250994 |
Gombo Syndrome |
|
Microphthalmia, Delayed puberty |
OMIM:233270 |
Peroxisome Biogenesis Disorder 11B |
|
Cataract |
OMIM:614885 |
Biemond Syndrome Type 2 |
|
Hypogonadotropic hypogonadism, Hypospadias, Hypogonadism, Delayed puberty, Microphthalmia |
ORPHA:141333 |
Galactose Epimerase Deficiency |
|
Cataract |
ORPHA:79238 |
Foveal Hypoplasia 2 |
|
Hypoplasia of the fovea, Astigmatism, Axenfeld anomaly, Microphthalmia, Posterior embryotoxon |
OMIM:609218 |
Ruijs-Aalfs Syndrome |
|
Posterior subcapsular cataract, Cataract |
OMIM:616200 |
Supernumerary Nostril |
|
Microcornea, Developmental cataract |
ORPHA:141096 |
Martsolf Syndrome 2 |
|
Cataract, Hypogonadotropic hypogonadism, Developmental cataract |
OMIM:619420 |
Wagner Vitreoretinopathy |
|
Cataract |
OMIM:143200 |
Warburg Micro Syndrome 1 |
|
External genital hypoplasia, Cryptorchidism, Developmental cataract, Microcornea, Microphthalmia |
OMIM:600118 |
Retinal Dystrophy And Iris Coloboma With Or Without Cataract |
|
Posterior synechiae of the anterior chamber, Iris coloboma, Developmental cataract |
OMIM:616722 |
Corneal Dystrophy, Fuchs Endothelial, 8 |
|
Corneal dystrophy, Corneal guttata |
OMIM:615523 |
Microphthalmia, Isolated 4 |
|
Microphthalmia, Absent testis |
OMIM:613094 |
Microphthalmia With Brain And Digit Anomalies |
|
Cataract, Anophthalmia, Sclerocornea, Cryptorchidism, Microcornea, Microphthalmia, Abnormality of... |
ORPHA:139471 |
Galactose Mutarotase Deficiency |
|
Cataract |
ORPHA:570422 |
Retinitis Pigmentosa 84 |
|
Cataract |
OMIM:618220 |
Nail-Patella Syndrome |
|
Keratoconus, Cataract, Antecubital pterygium, Microcornea, Microphakia, Lester's sign |
OMIM:161200 |
Cataract 16, Multiple Types |
|
Posterior polar cataract, Lenticonus, Developmental cataract |
OMIM:613763 |
Craniolenticulosutural Dysplasia |
|
Posterior Y-sutural cataract |
ORPHA:50814 |
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts |
|
Developmental cataract |
OMIM:600559 |
Developmental And Epileptic Encephalopathy 35 |
|
Cataract |
OMIM:616647 |
Microphthalmia, Syndromic 12 |
|
Anophthalmia, Cryptorchidism, Bicornuate uterus, Microphthalmia |
OMIM:615524 |
Mmep Syndrome |
|
Microphthalmia, Cryptorchidism |
ORPHA:3434 |
Craniolenticulosutural Dysplasia |
|
Punctate cataract, Posterior Y-sutural cataract |
OMIM:607812 |
Morm Syndrome |
|
Cataract |
ORPHA:75858 |
Microphthalmia, Syndromic 8 |
|
Microcornea, Cryptorchidism, Microphthalmia |
OMIM:601349 |
Stickler Syndrome, Type V |
|
Cataract |
OMIM:614284 |
Microphthalmia, Isolated, With Coloboma 10 |
|
Microphthalmia, Microcoria, Anophthalmia, Iris coloboma |
OMIM:616428 |
Usher Syndrome Type 3 |
|
Cataract, Astigmatism, Iris hypopigmentation |
ORPHA:231183 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Posterior embryotoxon, Cataract, Corneal opacity, Iris coloboma |
ORPHA:1473 |
3-Methylglutaconic Aciduria Type 4 |
|
Dysgenesis of the cerebellar vermis, Cataract, Iris hypopigmentation |
ORPHA:67048 |
Knobloch Syndrome 1 |
|
Band keratopathy, Patent ductus arteriosus, Phthisis bulbi, Developmental cataract, Iris transill... |
OMIM:267750 |
Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Premature ovarian insufficiency, Female infertility, Increased circulating gonadotropin level, Ir... |
OMIM:110100 |
Retinitis Pigmentosa |
|
Keratoconus, Hypoplasia of penis, Cataract, Hyperinsulinemia, Hypogonadism, Type II diabetes mell... |
ORPHA:791 |
Myotonic Dystrophy 2 |
|
Posterior subcapsular cataract, Iridescent posterior subcapsular cataract |
OMIM:602668 |
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 1 |
|
Cerebellar atrophy, Inferior cerebellar vermis hypoplasia, Cataract, Cerebellar hypoplasia |
OMIM:224050 |
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects |
|
Nuclear cataract, Cataract |
OMIM:608885 |
2Q24 Microdeletion Syndrome |
|
Microphthalmia, Cataract, Abnormality iris morphology |
ORPHA:1617 |
Spondyloepiphyseal Dysplasia, Kondo-Fu Type |
|
Cataract |
OMIM:618392 |
Leber Congenital Amaurosis 2 |
|
Keratoconus, Cataract, Cerebellar vermis hypoplasia |
OMIM:204100 |
Schwannomatosis, Vestibular |
|
Juvenile posterior subcapsular lenticular opacities, Cortical cataract |
OMIM:101000 |
Microphthalmia, Syndromic 5 |
|
Ectopic posterior pituitary, Cataract, Anophthalmia, Optic nerve hypoplasia, Cryptorchidism, Micr... |
OMIM:610125 |
Wagr Syndrome |
|
Cataract, Cryptorchidism, Aplasia/Hypoplasia of the iris, Ambiguous genitalia, Displacement of th... |
ORPHA:893 |
Nanophthalmos 1 |
|
Bilateral microphthalmos |
OMIM:600165 |
Microphthalmia, Isolated 7 |
|
Microphthalmia |
OMIM:613704 |
Nanophthalmos 2 |
|
Microphthalmia |
OMIM:609549 |
Mevalonic Aciduria |
|
Nuclear cataract, Cataract |
OMIM:610377 |
Achromatopsia 3 |
|
Cataract |
OMIM:262300 |
Retinitis Pigmentosa 4 |
|
Cataract |
OMIM:613731 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3 |
|
Microphthalmia |
OMIM:616335 |
Congenital Fibrinogen Deficiency |
|
Hemorrhagic ovarian cyst, Developmental cataract, Microphthalmia, Micropenis, Decreased testicula... |
ORPHA:335 |
Leber Congenital Amaurosis |
|
Keratoconus, Cataract, Aplasia/Hypoplasia of the cerebellar vermis |
ORPHA:65 |
Wilson-Turner Syndrome |
|
Cryptorchidism, Cataract, Hypogonadotropic hypogonadism |
ORPHA:3459 |
Otodental Syndrome |
|
Cataract, Lens coloboma, Microcornea, Microphthalmia, Iris coloboma |
ORPHA:2791 |
Intestinal Dysmotility Syndrome |
|
Cataract |
OMIM:620045 |
Autosomal Recessive Spastic Paraplegia Type 26 |
|
Decreased serum testosterone concentration, Cataract, Premature ovarian insufficiency |
ORPHA:101006 |
Cataracts, Spastic Paraparesis, And Speech Delay |
|
Cataract |
OMIM:619338 |
Isolated Ectopia Lentis |
|
Ectopia pupillae, Cataract, Ectopia lentis |
ORPHA:1885 |
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Microphthalmia, Ocular anterior segment dysgenesis, Iris coloboma, Peters anomaly |
OMIM:610023 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14 |
|
Cataract |
OMIM:615352 |
Pierpont Syndrome |
|
Microcornea, Cryptorchidism, Microphthalmia |
ORPHA:487825 |
Aniridia-Absent Patella Syndrome |
|
Aniridia, Cataract |
ORPHA:1069 |
Ovarian Fibrothecoma |
|
Ovarian fibroma, Metrorrhagia, Abnormal endometrium morphology, Abnormal circulating hormone conc... |
ORPHA:314478 |
Morning Glory Disc Anomaly |
|
Cataract |
ORPHA:35737 |
Laurence-Moon Syndrome |
|
Hypoplasia of penis, Cataract, Cryptorchidism, Type II diabetes mellitus, Displacement of the ure... |
ORPHA:2377 |
Norrie Disease |
|
Aplasia/Hypoplasia of the lens, Corneal opacity, Cataract, Sclerocornea, Ectopia lentis, Diabetes... |
ORPHA:649 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Cataract, Corneal opacity, Agenesis of cerebellar vermis, Hypoplasia of the pons, Cerebellar hypo... |
OMIM:613153 |
Dermatitis, Atopic |
|
Keratoconus, Cataract, Conjunctivitis |
OMIM:603165 |
Genetic Hyperferritinemia Without Iron Overload |
|
Cataract |
ORPHA:254704 |
Usher Syndrome Type 1 |
|
Aplasia/Hypoplasia of the cerebellum, Cataract, Iris hypopigmentation |
ORPHA:231169 |
Corneal Endothelial Dystrophy |
|
Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat... |
OMIM:217700 |
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Microphthalmia, Ocular anterior segment dysgenesis, Developmental cataract |
ORPHA:324416 |
Coloboma, Ocular, Autosomal Recessive |
|
Iris coloboma, Cataract, Lens subluxation |
OMIM:216820 |
Rhizomelic Chondrodysplasia Punctata, Type 2 |
|
Cataract, Zonular cataract |
OMIM:222765 |
Microphthalmia, Isolated 2 |
|
Microphthalmia, Opacification of the corneal stroma |
OMIM:610093 |
Vitreoretinochoroidopathy |
|
Microcornea, Pulverulent cataract, Developmental cataract |
OMIM:193220 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 14 |
|
Hypoplasia of the pons, Cataract, Cerebellar hypoplasia |
OMIM:615350 |
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay |
|
Posterior subcapsular cataract, Astigmatism |
OMIM:619234 |
Cerebrooculofacioskeletal Syndrome 2 |
|
Cataract, Small scrotum, Developmental cataract, Microphthalmia, Micropenis |
OMIM:610756 |
WAGR 11p13 deletion syndrome |
|
Aniridia |
DECIPHER:35 |
Microphthalmia, Isolated, With Coloboma 5 |
|
Microphthalmia, Bilateral microphthalmos, Anophthalmia, Iris coloboma |
OMIM:611638 |
Cone-Rod Dystrophy 16 |
|
Cataract |
OMIM:614500 |
Microphthalmia, Isolated 5 |
|
Microphthalmia, Cataract |
OMIM:611040 |
Neurooculocardiogenitourinary Syndrome |
|
Bilateral cryptorchidism, Microphthalmia, Patent ductus arteriosus, Peters anomaly |
OMIM:618652 |
Pierpont Syndrome |
|
Microcornea, Cryptorchidism, Micropenis, Microphthalmia |
OMIM:602342 |
Trisomy 13 |
|
Cataract, Anophthalmia, Cryptorchidism, Patent ductus arteriosus, Aplasia/Hypoplasia of the iris,... |
ORPHA:3378 |
Microphthalmia, Isolated, With Coloboma 7 |
|
Microphthalmia, Iris coloboma |
OMIM:614497 |
Alstrom Syndrome |
|
Subcapsular cataract |
OMIM:203800 |
Microphthalmia, Isolated 6 |
|
Microcornea, Microphthalmia |
OMIM:613517 |
Congenital Rubella Syndrome |
|
Cataract, Corneal opacity, Patent ductus arteriosus, Aplasia/Hypoplasia of the iris, Type I diabe... |
ORPHA:290 |
Alpha-Methylacyl-Coa Racemase Deficiency |
|
Cataract, Hypergonadotropic hypogonadism |
OMIM:614307 |
Weill-Marchesani Syndrome 4 |
|
Iridodonesis, Ectopia lentis, Shallow anterior chamber, Posterior synechiae of the anterior chamb... |
OMIM:613195 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Microphthalmia, Cataract, Cerebellar hypoplasia |
OMIM:251270 |
Erythrokeratodermia Variabilis |
|
Diabetes mellitus, Abnormal testis morphology, Corneal opacity, Cataract |
ORPHA:317 |
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia |
|
Cataract |
ORPHA:1366 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Ambiguous genitalia, Microphthalmia, Cataract |
ORPHA:93267 |
Anterior Segment Dysgenesis 6 |
|
Corneal opacity, Abnormal Descemet membrane morphology, Developmental glaucoma, Posterior synechi... |
OMIM:617315 |
Classic Galactosemia |
|
Male infertility, Decreased serum insulin-like growth factor 1, Cataract, Premature ovarian insuf... |
ORPHA:79239 |
Neutral Lipid Storage Disease With Ichthyosis |
|
Subcapsular cataract |
ORPHA:98907 |
Lissencephaly 5 |
|
Cerebellar vermis hypoplasia, Cataract, Cerebellar hemisphere hypoplasia |
OMIM:615191 |
Gonadoblastoma |
|
Female external genitalia in individual with 46,XY karyotype, Gonadal calcification, Increased se... |
ORPHA:206484 |
Warburg Micro Syndrome 2 |
|
Small scrotum, Cataract, Cryptorchidism, Developmental cataract, Hypoplastic labia majora, Microc... |
OMIM:614225 |
Stiff Skin Syndrome |
|
Cataract |
OMIM:184900 |
Arthrogryposis And Ectodermal Dysplasia |
|
Nuclear cataract |
OMIM:601701 |
Lissencephaly 8 |
|
Retrocerebellar cyst, Microphthalmia, Cataract, Cerebellar hypoplasia |
OMIM:617255 |
Warburg Micro Syndrome 3 |
|
Small scrotum, Cataract, Hypoplastic labia minora, Developmental cataract, Microcornea, Shallow a... |
OMIM:614222 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Cataract, Sutural cataract, Nuclear pulverulent cataract |
OMIM:612474 |
Aniridia, Partial, With Unilateral Renal Agenesis And Psychomotor Retardation |
|
Aniridia, Developmental glaucoma |
OMIM:206750 |
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome |
|
Cataract |
OMIM:616108 |
Leber Congenital Amaurosis 8 |
|
Keratoconus, Cataract |
OMIM:613835 |
Microcephaly 10, Primary, Autosomal Recessive |
|
Cerebellar atrophy, Cataract, Cerebellar hemisphere hypoplasia |
OMIM:615095 |
Microphthalmia, Syndromic 13 |
|
Microcornea, Microphthalmia, Iris coloboma |
OMIM:300915 |
Autosomal Recessive Spastic Paraplegia Type 46 |
|
Cataract, Abnormal sperm head morphology, Infertility, Abnormal sperm morphology, Decreased testi... |
ORPHA:320391 |
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Decreased circulating ... |
OMIM:228300 |
Kniest Dysplasia |
|
Cataract, Aplasia/Hypoplasia of the lens, Lens luxation |
ORPHA:485 |
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome |
|
Cataract |
ORPHA:1345 |
Weill-Marchesani Syndrome |
|
Cataract, Ectopia lentis |
ORPHA:3449 |
Chondrodysplasia Punctata 1, X-Linked Recessive |
|
Cataract, Hypogonadism |
OMIM:302950 |
Woolly Hair |
|
Abnormal pupil morphology, Cataract |
ORPHA:170 |
Senior-Loken Syndrome |
|
Cataract, Premature ovarian insufficiency |
ORPHA:3156 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Hypoplasia of penis, Anophthalmia, Hypospadias, Sclerocornea, Cryptorchidism, Patent ductus arter... |
ORPHA:77298 |
Warburg Micro Syndrome 4 |
|
Small scrotum, Cryptorchidism, Developmental cataract, Microcornea, Microphthalmia, Micropenis, D... |
OMIM:615663 |
Hereditary Leiomyomatosis And Renal Cell Cancer |
|
Uterine leiomyoma, Uterine leiomyosarcoma, Vaginal neoplasm, Cataract |
ORPHA:523 |
Rothmund-Thomson Syndrome, Type 2 |
|
Cataract, Cryptorchidism, Microcornea, Hypogonadism, Microphthalmia, Annular pancreas, Zonular ca... |
OMIM:268400 |
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness |
|
Cataract |
OMIM:132450 |
Mevalonic Aciduria |
|
Cataract |
ORPHA:29 |
Norrie Disease |
|
Cataract, Corneal opacity, Leukocoria, Hypoplasia of the iris, Buphthalmos, Shallow anterior cham... |
OMIM:310600 |
Myopathy, Distal, 7, Adult-Onset, X-Linked |
|
Cataract |
OMIM:301075 |
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Cataract, Corneal scarring, Buphthalmos, Microphthalmia, Iris coloboma |
OMIM:212550 |
Tetraamelia-Multiple Malformations Syndrome |
|
Septo-optic dysplasia, Cataract, Cryptorchidism, Microcornea, Vaginal atresia, Microphthalmia, Ir... |
ORPHA:3301 |
Leber Congenital Amaurosis 1 |
|
Keratoconus, Cataract |
OMIM:204000 |
Kapur-Toriello Syndrome |
|
Cataract, Cryptorchidism, Patent ductus arteriosus, Hypoplastic labia majora, Microphthalmia, Mic... |
OMIM:244300 |
Infantile Spasms-Broad Thumbs Syndrome |
|
Vaginal hernia, Cataract |
ORPHA:3173 |
Arrhinia-Choanal Atresia-Microphthalmia Syndrome |
|
Microphthalmia, Hypogonadotropic hypogonadism |
ORPHA:1135 |
Full Nf2-Related Schwannomatosis |
|
Posterior subcapsular cataract, Cortical cataract |
ORPHA:637 |
Developmental Delay With Variable Neurologic And Brain Abnormalities |
|
Microphthalmia, Astigmatism, Cataract |
OMIM:619694 |
Histiocytoid Cardiomyopathy |
|
Corneal opacity, Polycystic ovaries, Microphthalmia, Megalocornea, Congenital aphakia |
ORPHA:137675 |
Alport Syndrome |
|
Posterior subcapsular cataract, Abnormal corneal endothelium morphology, Recurrent corneal erosio... |
ORPHA:63 |
Micro Syndrome |
|
Hypoplasia of penis, Cataract, Cryptorchidism, Hypoplastic labia minora, Microcornea, Clitoral hy... |
ORPHA:2510 |
Microphthalmia, Isolated, With Coloboma 6 |
|
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia |
OMIM:613703 |
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
Microphthalmia |
OMIM:251700 |
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome |
|
Cataract, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, ... |
ORPHA:280679 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Ambiguous genitalia, Cryptorchidism, Hypoplasia of penis, Cataract |
ORPHA:2772 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
Diabetes mellitus, Cataract, Premature ovarian insufficiency, Abnormality of the thyroid gland, H... |
OMIM:609286 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Microphthalmia, Cataract, Cerebellar hypoplasia |
OMIM:618805 |
Leukodystrophy, Hypomyelinating, 24 |
|
Cataract |
OMIM:619851 |
Oculocerebrocutaneous Syndrome |
|
Microphthalmia, Cryptorchidism, Anophthalmia |
OMIM:164180 |
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma |
|
Microphthalmia, Shallow anterior chamber |
OMIM:267760 |
Trichothiodystrophy 3, Photosensitive |
|
Bilateral cryptorchidism, Microphthalmia, Cataract, Developmental cataract |
OMIM:616395 |
Bresek Syndrome |
|
Decreased testicular size, Optic nerve hypoplasia, Cryptorchidism, Microphthalmia, Iris coloboma |
ORPHA:85284 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Microphthalmia, Cryptorchidism, Cataract |
OMIM:214150 |
Monilethrix |
|
Cataract |
ORPHA:573 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Blind vagina, Ambi... |
ORPHA:90793 |
Peroxisome Biogenesis Disorder 10B |
|
Cataract |
OMIM:617370 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Microphthalmia, Developmental cataract |
OMIM:613155 |
3-Methylglutaconic Aciduria, Type Viib |
|
Cataract, Zonular cataract |
OMIM:616271 |
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia |
|
Nuclear cataract |
ORPHA:1010 |
Adams-Oliver Syndrome 4 |
|
Microphthalmia, Patent ductus arteriosus |
OMIM:615297 |
Osteoporosis-Pseudoglioma Syndrome |
|
Microphthalmia, Corneal opacity, Isosexual precocious puberty |
ORPHA:2788 |
Satoyoshi Syndrome |
|
Nephrogenic diabetes insipidus, Hypoplasia of the uterus, Hypoplasia of the ovary, Abnormality of... |
ORPHA:3130 |
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development |
|
Cataract, Band keratopathy |
OMIM:604278 |
Nanophthalmos |
|
Microphthalmia |
ORPHA:35612 |
Galactosemia I |
|
Cataract, Hypergonadotropic hypogonadism, Premature ovarian insufficiency |
OMIM:230400 |
Joubert Syndrome 9 |
|
Cataract, Astigmatism |
OMIM:612285 |
Hemochromatosis, Type 4 |
|
Diabetes mellitus, Impotence, Cataract |
OMIM:606069 |
Autosomal Recessive Stickler Syndrome |
|
Cataract, Astigmatism |
ORPHA:250984 |
Cerebrooculofacioskeletal Syndrome 3 |
|
Microphthalmia |
OMIM:616570 |
Müllerian Aplasia And Hyperandrogenism |
|
Primary amenorrhea, Hypoplasia of the uterus, Increased serum testosterone level, Abnormal vagina... |
ORPHA:247768 |
Retinitis Pigmentosa 2 |
|
Cataract |
OMIM:312600 |
Autoimmune Polyendocrinopathy Type 1 |
|
Hypoparathyroidism, Adrenal hyperplasia, Cataract, Primary adrenal insufficiency, Abnormal circul... |
ORPHA:3453 |
Phace Syndrome |
|
Cataract, Optic nerve hypoplasia, Sclerocornea, Hypothyroidism, Lens coloboma, Ectopic thyroid, M... |
ORPHA:42775 |
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Microphthalmia |
ORPHA:1574 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Microphthalmia, Lens coloboma |
OMIM:618914 |
Pontocerebellar Hypoplasia, Type 16 |
|
Hypoplasia of the pons, Cataract, Cerebellar hypoplasia |
OMIM:619527 |
Severe Early-Childhood-Onset Retinal Dystrophy |
|
Posterior subcapsular cataract, Posterior synechiae of the anterior chamber, Abnormal corneal end... |
ORPHA:364055 |
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy |
|
Cataract, Cerebellar vermis hypoplasia, Buphthalmos, Abnormal pons morphology, Cerebellar cyst |
ORPHA:370997 |
Leber Congenital Amaurosis 15 |
|
Posterior subcapsular cataract |
OMIM:613843 |
Xeroderma Pigmentosum, Complementation Group B |
|
Microphthalmia, Cataract, Hypogonadism |
OMIM:610651 |
Premature Aging Syndrome, Okamoto Type |
|
Cataract |
OMIM:601811 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Hypoplasia of penis, Cataract, Anophthalmia, External genital hypoplasia, Cryptorchidism, Hypogon... |
ORPHA:2250 |
Rere-Related Neurodevelopmental Syndrome |
|
Hypospadias, Cryptorchidism, Astigmatism, Peters anomaly, Microphthalmia, Iris coloboma |
ORPHA:494344 |
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Cataract, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, ... |
OMIM:300845 |
Hypoparathyroidism, Familial Isolated, 1 |
|
Hypoparathyroidism, Cataract, Decreased circulating parathyroid hormone level |
OMIM:146200 |
Fowler Urethral Sphincter Dysfunction Syndrome |
|
Polycystic ovaries, Menorrhagia, Oligomenorrhea, Abnormality of the ovary, Amenorrhea |
ORPHA:2795 |
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome |
|
Fused labia minora, Ambiguous genitalia, female, Primary amenorrhea, Abnormality of the uterus, A... |
ORPHA:2975 |
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type) |
|
Cerebellar atrophy, Cataract |
OMIM:619780 |
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome |
|
Cataract, Developmental cataract |
ORPHA:436174 |
Cat-Eye Syndrome |
|
Microphthalmia, Iris coloboma |
ORPHA:195 |
Xk Aprosencephaly Syndrome |
|
Microphthalmia, Abnormal external genitalia |
ORPHA:3469 |
Chromosome 16Q12 Duplication Syndrome |
|
Anisocoria, Cataract |
OMIM:619649 |
Familial Isolated Hypoparathyroidism |
|
Hypoparathyroidism, Abnormal circulating calcium-phosphate regulating hormone concentration, Cata... |
ORPHA:2238 |
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome |
|
Cataract, Corneal opacity, Optic nerve hypoplasia, Cryptorchidism, Delayed puberty |
ORPHA:496790 |
Hereditary Cryohydrocytosis With Reduced Stomatin |
|
Cataract, Zonular cataract |
ORPHA:168577 |
Myotonic Dystrophy 1 |
|
Hypogonadism, Cholelithiasis, Cataract, Testicular atrophy |
OMIM:160900 |
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
|
Cataract, Corneal opacity, Myopic astigmatism, Microcornea, Astigmatism, Microphthalmia |
OMIM:152950 |
Cornea Plana 2, Autosomal Recessive |
|
Flat cornea, Corneal opacity, Sclerocornea, Corneal arcus, Decreased corneal thickness, Microphth... |
OMIM:217300 |
Pseudohypoparathyroidism, Type Ic |
|
Cataract, Elevated circulating thyroid-stimulating hormone concentration, Pseudohypoparathyroidis... |
OMIM:612462 |
Baraitser-Winter Syndrome 1 |
|
Cryptorchidism, Patent ductus arteriosus, Microphthalmia, Micropenis, Iris coloboma |
OMIM:243310 |
Walker-Warburg Syndrome |
|
Hypoplasia of penis, Cataract, Corneal opacity, Anophthalmia, Cryptorchidism, Microcornea, Microp... |
ORPHA:899 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Dilated fourth ventricle, Fusion of the cerebellar hemispheres, Cataract, Optic nerve hypoplasia,... |
ORPHA:370959 |
Ifap Syndrome 2 |
|
Keratitis, Keratoconjunctivitis sicca, Cataract |
OMIM:619016 |
Nance-Horan Syndrome |
|
Microcornea, Microphthalmia, Cataract |
ORPHA:627 |
8Q21.11 Microdeletion Syndrome |
|
Hypoplasia of penis, Cataract, Corneal opacity, Sclerocornea, Cryptorchidism, Microphthalmia, Iri... |
ORPHA:284160 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Cataract, Hypospadias, Anophthalmia, Sclerocornea, Precocious puberty, Microcornea, Ectopia pupil... |
OMIM:615877 |
Kapur-Toriello Syndrome |
|
Hypoplasia of penis, Patent ductus arteriosus, Hypoplastic labia majora, Microphthalmia, Iris col... |
ORPHA:2328 |
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:85275 |
Hereditary Bullous Dystrophy, Macular Type |
|
Cataract, Corneal opacity, External genital hypoplasia, Cryptorchidism, Decreased testicular size |
ORPHA:1867 |
Multiple Benign Circumferential Skin Creases On Limbs |
|
Small scrotum, Hypospadias, Cryptorchidism, Microcornea, Abnormality of the scrotum, Microphthalmia |
ORPHA:2505 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Cataract, Hypospadias, Sclerocornea, Ovotestis, Hypoplasia of the uterus, Chordee, Peters anomaly... |
OMIM:309801 |
Fanconi Anemia, Complementation Group A |
|
Male infertility, Hypergonadotropic hypogonadism, Cryptorchidism, Prolonged G2 phase of cell cycl... |
OMIM:227650 |
Cowden Syndrome 5 |
|
Cataract, Hyperthyroidism, Thyroiditis, Hydrocele testis, Ovarian cyst, Thyroid adenoma, Hypothyr... |
OMIM:615108 |
Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Corneal erosion, Cataract |
OMIM:614878 |
Microphthalmia, Syndromic 3 |
|
Optic nerve aplasia, Cataract, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Hypo... |
OMIM:206900 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Hypoparathyroidism, Cataract, Female hypogonadism, Premature ovarian insufficiency, Decreased cir... |
OMIM:240300 |
Spondyloocular Syndrome |
|
Posterior subcapsular cataract, Cataract |
OMIM:605822 |
Ectodermal Dysplasia-Blindness Syndrome |
|
Cataract, Corneal dystrophy, Sclerocornea, Hypohidrosis, Microcornea, Keratoconjunctivitis sicca,... |
ORPHA:1806 |
Nanophthalmos 4 |
|
Microphthalmia |
OMIM:615972 |
Hereditary Mucoepithelial Dysplasia |
|
Abnormal morphology of female internal genitalia, Corneal dystrophy, Cataract |
ORPHA:1839 |
Borjeson-Forssman-Lehmann Syndrome |
|
Hypoplasia of penis, Small scrotum, Cataract, Cryptorchidism, Hypogonadism, Decreased testicular ... |
ORPHA:127 |
Cowden Syndrome 6 |
|
Cataract, Hyperthyroidism, Thyroiditis, Hydrocele testis, Ovarian cyst, Thyroid adenoma, Hypothyr... |
OMIM:615109 |
Bosma Arhinia Microphthalmia Syndrome |
|
Cataract, Hypogonadotropic hypogonadism, Hypospadias, Cryptorchidism, Primary amenorrhea, Hypopla... |
OMIM:603457 |
Gorlin Syndrome |
|
Cryptorchidism, Cataract, Hypogonadotropic hypogonadism, Iris coloboma |
ORPHA:377 |
Iridocorneal Endothelial Syndrome |
|
Iris atrophy, Central heterochromia, Uveal ectropion, Abnormal migration of corneal endothelium, ... |
ORPHA:64734 |
Microphthalmia, Isolated 1 |
|
Microphthalmia, Anophthalmia |
OMIM:251600 |
Weill-Marchesani Syndrome 1 |
|
Cataract, Ectopia lentis, Patent ductus arteriosus, Microspherophakia, Shallow anterior chamber |
OMIM:277600 |
Alport Syndrome 2, Autosomal Recessive |
|
Corneal erosion, Cataract, Anterior lenticonus |
OMIM:203780 |
Microphthalmia, Syndromic 16 |
|
Microphthalmia, Anophthalmia, Sclerocornea |
OMIM:611038 |
Fanconi Anemia, Complementation Group E |
|
Microphthalmia, Cryptorchidism, Hypergonadotropic hypogonadism, Prolonged G2 phase of cell cycle |
OMIM:600901 |
Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Microphthalmia, Patent ductus arteriosus, Hypoplasia of penis |
ORPHA:2547 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Cataract, Corneal opacity, Leukocoria, Microcornea, Buphthalmos, Shallow anterior chamber, Poster... |
OMIM:221900 |
Frontonasal Dysplasia 1 |
|
Microphthalmia, Cataract |
OMIM:136760 |
Phace Association |
|
Optic nerve hypoplasia, Patent ductus arteriosus, Developmental cataract, Congenital hypothyroidi... |
OMIM:606519 |
Temtamy Syndrome |
|
Microphthalmia, Iris coloboma |
ORPHA:1777 |
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Microphthalmia, Cryptorchidism, Small scrotum, Hypogonadism |
ORPHA:228390 |
Congenital Bile Acid Synthesis Defect Type 4 |
|
Cholelithiasis, Cataract, Hypogonadism, Type II diabetes mellitus |
ORPHA:79095 |
Oculogastrointestinal Neurodevelopmental Syndrome |
|
Vaginal fistula, Bilateral microphthalmos, Unilateral microphthalmos |
OMIM:619318 |
Microphthalmia, Lenz Type |
|
Cataract, Hypospadias, Cryptorchidism, Microcornea, Microphthalmia, Iris coloboma |
ORPHA:568 |
Martsolf Syndrome 1 |
|
Cataract, Hypogonadotropic hypogonadism, Cryptorchidism, Developmental cataract, Microphthalmia, ... |
OMIM:212720 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Posterior subcapsular cataract, Megalocornea, Corneal opacity, Iris coloboma |
ORPHA:536471 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Microphthalmia |
OMIM:274270 |
Hydrolethalus |
|
Microphthalmia, Cryptorchidism, Anophthalmia, Abnormal fallopian tube morphology |
ORPHA:2189 |
Pseudohypoparathyroidism, Type Ia |
|
Cataract, Pseudohypoparathyroidism, Elevated circulating parathyroid hormone level, Hypogonadism,... |
OMIM:103580 |
Matthew-Wood Syndrome |
|
Anophthalmia, Cryptorchidism, Aplasia/Hypoplasia of the pancreas, Abnormality of the uterus, Micr... |
ORPHA:2470 |
Full Schwannomatosis |
|
Uterine leiomyoma, Cataract, Neoplasm of the anterior pituitary |
ORPHA:93921 |
Enhanced S-Cone Syndrome |
|
Cataract |
OMIM:268100 |
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant |
|
Keratitis, Cataract, Conjunctivitis |
OMIM:612843 |
Frontofacionasal Dysplasia |
|
Cataract, Brushfield spots, Microcornea, Limbal dermoid, Microphthalmia, Iris coloboma |
ORPHA:1791 |
Temtamy Syndrome |
|
Microphthalmia, Ectopia lentis, Iris coloboma, Lens luxation |
OMIM:218340 |
Encephalocraniocutaneous Lipomatosis |
|
Sclerocornea, Cryptorchidism, Hypoplasia of the iris, Limbal dermoid, Microphthalmia |
OMIM:613001 |
Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Posterior subcapsular cataract |
OMIM:271510 |
Trichothiodystrophy 1, Photosensitive |
|
Cataract, Microcornea, Keratoconjunctivitis sicca, Hypogonadism, Microphthalmia |
OMIM:601675 |
Weill-Marchesani Syndrome 2 |
|
Iridodonesis, Cataract, Lens luxation, Ectopia lentis, Patent ductus arteriosus, Microspherophaki... |
OMIM:608328 |
Joubert Syndrome 37 |
|
Microphthalmia, Cryptorchidism, Micropenis, Decreased testicular size |
OMIM:619185 |
Chromosome 8Q21.11 Deletion Syndrome |
|
Cataract, Sclerocornea, Cryptorchidism, Microphthalmia, Micropenis |
OMIM:614230 |
Peroxisome Biogenesis Disorder 9B |
|
Cataract |
OMIM:614879 |
Bartsocas-Papas Syndrome 2 |
|
Corneal opacity, Antecubital pterygium, Popliteal pterygium, Microphthalmia, Axillary pterygium |
OMIM:619339 |
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Microcornea, Microphthalmia, Posterior lenticonus, Iris coloboma |
ORPHA:231736 |
Frontorhiny |
|
Cataract, Microphthalmia, Hypopituitarism, Diabetes insipidus, Iris coloboma |
ORPHA:391474 |
Cowden Syndrome 1 |
|
Cataract, Hyperthyroidism, Thyroiditis, Hydrocele testis, Ovarian cyst, Ovarian carcinoma, Thyroi... |
OMIM:158350 |
Moebius Syndrome |
|
Microphthalmia, Micropenis, Hypogonadotropic hypogonadism, Decreased testicular size |
OMIM:157900 |
Oculofaciocardiodental Syndrome |
|
Cataract, Ectopia lentis, Patent ductus arteriosus, Microcornea, Microphthalmia, Iris coloboma |
ORPHA:2712 |
Vogt-Koyanagi-Harada Disease |
|
Cataract |
ORPHA:3437 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Cataract, Hypospadias, Microcornea, Microphthalmia, Clitoral hypertrophy |
OMIM:616449 |
Wolfram Syndrome 1 |
|
Diabetes mellitus, Cataract, Diabetes insipidus, Hypothyroidism, Testicular atrophy |
OMIM:222300 |
Bardet-Biedl Syndrome 9 |
|
Astigmatism, Irregular menstruation, Cataract |
OMIM:615986 |
Meckel Syndrome, Type 8 |
|
Ambiguous genitalia, Microphthalmia, Anophthalmia |
OMIM:613885 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Neoplasm of the pancreas, Decreased serum testosterone concentration, Cataract, Hypergonadotropic... |
ORPHA:2959 |
Fanconi Anemia, Complementation Group S |
|
Microphthalmia, Ovarian carcinoma, Ovarian neoplasm |
OMIM:617883 |
Developmental And Epileptic Encephalopathy 1 |
|
Microphthalmia, Micropenis |
OMIM:308350 |
Triploidy |
|
Hypoplasia of penis, Cataract, Hypospadias, Cryptorchidism, Ambiguous genitalia, Aplasia/Hypoplas... |
ORPHA:3376 |
Cadds |
|
Cerebellar atrophy, Cataract |
ORPHA:369942 |
Congenital Disorder Of Glycosylation, Type Iq |
|
Microphthalmia, Cataract |
OMIM:612379 |
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Microcornea, Iris transillumination defect, Cataract, Microphthalmia |
OMIM:617306 |
Fuchs Heterochromic Iridocyclitis |
|
Anterior chamber inflammatory cells, Iris atrophy, Cataract, Anisocoria, Posterior synechiae of t... |
ORPHA:263479 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Decreased response to growth hormone stimulation test, Decreased circulating parathyroid hormone ... |
OMIM:241410 |
Fanconi Anemia, Complementation Group C |
|
Microphthalmia, Cryptorchidism, Hypergonadotropic hypogonadism, Prolonged G2 phase of cell cycle |
OMIM:227645 |
Adams-Oliver Syndrome 2 |
|
Microphthalmia, Developmental cataract |
OMIM:614219 |
Wagro Syndrome |
|
Cataract, Corneal opacity, Aniridia, Hypoplastic female external genitalia, Decreased testicular ... |
OMIM:612469 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Cataract, Partial absence of cerebellar vermis, Buphthalmos, Persistent pupillary membrane, Cereb... |
OMIM:613150 |
Tetragametic Chimerism |
|
Bifid scrotum, True hermaphroditism, Ovotestis, Cryptorchidism, Perineal hypospadias, Abnormality... |
ORPHA:199310 |
Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Microphthalmia, Cataract |
OMIM:614105 |
Usher Syndrome Type 2 |
|
Aplasia/Hypoplasia of the cerebellum, Cataract, Iris hypopigmentation |
ORPHA:231178 |
Oligoarticular Juvenile Idiopathic Arthritis |
|
Cataract, Anterior chamber synechiae, Band keratopathy |
ORPHA:85410 |
Proteus-Like Syndrome |
|
Thymus hyperplasia, Cataract, Abnormal pupil morphology, Abnormality of the parathyroid gland, Po... |
ORPHA:2969 |
Persistent Hyperplastic Primary Vitreous |
|
Cataract, Corneal opacity, Leukocoria, Developmental cataract, Microcornea, Buphthalmos, Shallow ... |
ORPHA:91495 |
Mosaic Trisomy 9 |
|
Hypoplasia of penis, Corneal opacity, Cryptorchidism, Patent ductus arteriosus, Abnormality of th... |
ORPHA:99776 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Microphthalmia, Cataract, Abnormally large globe |
OMIM:615249 |
Microphthalmia, Isolated, With Coloboma 9 |
|
Sclerocornea, Microcornea, Microphthalmia, Ocular anterior segment dysgenesis, Iris coloboma |
OMIM:615145 |
Trichothiodystrophy 4, Nonphotosensitive |
|
Microcornea, Microphthalmia, Keratoconjunctivitis sicca, Decreased fertility |
OMIM:234050 |
Fanconi Anemia, Complementation Group I |
|
Optic nerve hypoplasia, Decreased response to growth hormone stimulation test, Astigmatism, Micro... |
OMIM:609053 |
Idiopathic Uveal Effusion Syndrome |
|
Microphthalmia, Abnormal anterior eye segment morphology |
ORPHA:209956 |
1Q21.1 Microdeletion Syndrome |
|
Cataract, Cryptorchidism, Patent ductus arteriosus, Microphthalmia, Iris coloboma |
ORPHA:250989 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Cryptorchidism, Ocular anterior segment dysgenesis, Bilateral microphthalmos |
ORPHA:369891 |
Dystonia-Deafness Syndrome 1 |
|
Cataract |
OMIM:607371 |
Vacterl With Hydrocephalus |
|
Anophthalmia, Cryptorchidism, Microcornea, Abnormal fallopian tube morphology, Microphthalmia |
ORPHA:3412 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Cataract, Cerebellar vermis hypoplasia, Buphthalmos, Microphthalmia, Cerebellar cyst |
OMIM:616538 |
Fanconi Anemia, Complementation Group D2 |
|
Hypergonadotropic hypogonadism, Cryptorchidism, Patent ductus arteriosus, Prolonged G2 phase of c... |
OMIM:227646 |
Sandestig-Stefanova Syndrome |
|
Microphthalmia, Developmental cataract |
OMIM:618804 |
Facial Clefting, Oblique, 1 |
|
Microphthalmia |
OMIM:600251 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Cataract, Corneal opacity, Optic nerve hypoplasia, Peters anomaly, Cryptorchidism, Buphthalmos, H... |
OMIM:236670 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Microphthalmia, Cataract |
ORPHA:163649 |
Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Microphthalmia |
OMIM:615771 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Microphthalmia |
OMIM:614830 |
3Q29 Microdeletion Syndrome |
|
Microphthalmia, Patent ductus arteriosus, Cataract, Hypospadias |
ORPHA:65286 |
Bardet-Biedl Syndrome 1 |
|
Cataract, Diabetes mellitus, Nephrogenic diabetes insipidus, Abnormality of the ovary, Astigmatis... |
OMIM:209900 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Cataract, Corneal opacity, Bilateral microphthalmos, Microphthalmia, Conjunctival hyperemia |
ORPHA:2399 |
Rodrigues Blindness |
|
Microcornea, Microphthalmia, Sclerocornea |
OMIM:268320 |
Microcephaly 20, Primary, Autosomal Recessive |
|
Hypoplasia of the uterus, Microphthalmia, Optic nerve hypoplasia, Vaginal atresia |
OMIM:617914 |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Cerebellar atrophy, Inferior cerebellar vermis hypoplasia, Cataract, Cerebellar hypoplasia |
OMIM:620327 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Cataract, Hypergonadotropic hypogonadism, Premature ovarian insufficiency, Secondary amenorrhea, ... |
OMIM:157640 |
3Q29 Microduplication Syndrome |
|
Cataract, Sclerocornea, Aniridia, Microphthalmia, Iris coloboma |
ORPHA:251038 |
Dahlberg-Borer-Newcomer Syndrome |
|
Hypoparathyroidism, Cataract, Hypothyroidism, Hypohidrosis |
ORPHA:1563 |
Mietens Syndrome |
|
Microcornea, Cataract, Corneal opacity, Sclerocornea |
ORPHA:2557 |
Transketolase Deficiency |
|
Cataract, Patent ductus arteriosus, Secondary amenorrhea, Conjunctivitis, Type I diabetes mellitus |
ORPHA:488618 |
Sponastrime Dysplasia |
|
Cataract, Hypospadias, Precocious puberty, Microcoria, Hypothyroidism, Congenital aphakia |
ORPHA:93357 |
Werner Syndrome |
|
Diabetes mellitus, Cataract, Hypogonadism |
OMIM:277700 |
Stromme Syndrome |
|
Cataract, Cerebellar vermis hypoplasia, Optic nerve hypoplasia, Sclerocornea, Microcornea, Cerebe... |
OMIM:243605 |
Craniotelencephalic Dysplasia |
|
Microphthalmia, Septo-optic dysplasia |
ORPHA:1528 |
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Microphthalmia, Cryptorchidism |
OMIM:618494 |
Microphthalmia, Syndromic 11 |
|
Microphthalmia, Agenesis of pineal gland |
OMIM:614402 |
Lymphedema-Hypoparathyroidism Syndrome |
|
Hypoparathyroidism, Cataract |
OMIM:247410 |
Fryns Syndrome |
|
Hypospadias, Corneal opacity, Cryptorchidism, Bicornuate uterus, Microphthalmia |
ORPHA:2059 |
Trisomy 18 |
|
Cataract, Cryptorchidism, Microcornea, Microphthalmia, Abnormal morphology of female internal gen... |
ORPHA:3380 |
Treacher-Collins Syndrome |
|
Hypoplasia of penis, Small scrotum, Cataract, Cryptorchidism, Patent ductus arteriosus, Abnormali... |
ORPHA:861 |
Gracile Bone Dysplasia |
|
Aniridia, Microphthalmia, Micropenis |
OMIM:602361 |
Fanconi Anemia, Complementation Group G |
|
Microphthalmia |
OMIM:614082 |
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Macroorchidism, Unilateral microphthalmos, Hypospadias, Iris coloboma |
OMIM:618874 |
Microphthalmia, Isolated, With Corectopia |
|
Microphthalmia, Ectopia pupillae |
OMIM:156900 |
Ovarian Fibroma |
|
Gonadal calcification, Ovarian fibroma, Abnormality of the ovary |
ORPHA:314473 |
Autosomal Dominant Kenny-Caffey Syndrome |
|
Bilateral microphthalmos, Developmental cataract, Congenital hypoparathyroidism, Decreased testic... |
ORPHA:93325 |
Meckel Syndrome |
|
True hermaphroditism, Pancreatic fibrosis, Cataract, Sclerocornea, Anophthalmia, Pancreatic cysts... |
ORPHA:564 |
Refsum Disease |
|
Microphthalmia, Cataract |
ORPHA:773 |
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs |
|
Iris atrophy, Cataract, Ectopia lentis, Spherophakia, Anterior synechiae of the anterior chamber,... |
OMIM:601552 |
Tetraamelia Syndrome 1 |
|
Cataract, Hypoplasia of the fallopian tube, Absent external genitalia, Microphthalmia, Adrenal gl... |
OMIM:273395 |
Atelis Syndrome 2 |
|
Patent ductus arteriosus, Elevated circulating thyroid-stimulating hormone concentration, Hyperin... |
OMIM:620185 |
Seckel Syndrome 2 |
|
Microphthalmia, Hypospadias |
OMIM:606744 |
Xeroderma Pigmentosum, Complementation Group D |
|
Cataract, Keratitis, Keratoconjunctivitis sicca, Conjunctivitis, Microphthalmia, Corneal neovascu... |
OMIM:278730 |
Jacobsen Syndrome |
|
Hypospadias, Cryptorchidism, Microcornea, Clitoral hypoplasia, Macular hypoplasia, Labial hypopla... |
OMIM:147791 |
Idiopathic Panuveitis |
|
Conjunctival hyperemia, Cataract, Posterior synechiae of the anterior chamber |
ORPHA:280921 |
Familial Exudative Vitreoretinopathy |
|
Microphthalmia, Cataract |
ORPHA:891 |
Progeroid Short Stature With Pigmented Nevi |
|
Premature ovarian insufficiency, Hypospadias, Cataract, Diabetes mellitus, Allergic conjunctiviti... |
OMIM:176690 |
Congenital Toxoplasmosis |
|
Microphthalmia |
ORPHA:858 |
Chromosome 17Q12 Duplication Syndrome |
|
Microphthalmia, Peters anomaly |
OMIM:614526 |
Pelvis-Shoulder Dysplasia |
|
Microphthalmia, Iris coloboma, Opacification of the corneal stroma |
OMIM:169550 |
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies |
|
Microphthalmia, Astigmatism, Cataract |
OMIM:618571 |
Kenny-Caffey Syndrome, Type 2 |
|
Hypoparathyroidism, Microphthalmia, Developmental cataract |
OMIM:127000 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Microphthalmia, Cryptorchidism |
ORPHA:404440 |
Craniotelencephalic Dysplasia |
|
Microphthalmia, Optic nerve hypoplasia |
OMIM:218670 |
Pseudotrisomy 13 Syndrome |
|
Adrenal hypoplasia, Cryptorchidism, Bicornuate uterus, Microphthalmia, Micropenis |
OMIM:264480 |
Steinert Myotonic Dystrophy |
|
Posterior subcapsular cataract, Astigmatism |
ORPHA:273 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Microphthalmia |
OMIM:602501 |
Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Aplasia/Hypoplasia of the cerebellum, Cataract, Ocular albinism, Iris hypopigmentation |
ORPHA:2720 |
Coloboma, Ocular, Autosomal Dominant |
|
Microphthalmia, Optic nerve aplasia, Corneal opacity, Peters anomaly |
OMIM:120200 |
Fanconi Anemia |
|
Cataract, Hypospadias, Abnormal preputium morphology, Cryptorchidism, Patent ductus arteriosus, A... |
ORPHA:84 |
Basal Cell Nevus Syndrome 1 |
|
Ovarian fibroma, Cataract, Ovarian carcinoma, Microphthalmia, Iris coloboma |
OMIM:109400 |
Burkitt Lymphoma |
|
Abnormality of the ovary |
ORPHA:543 |
Marden-Walker Syndrome |
|
Microphthalmia, Cryptorchidism, Micropenis, Hypospadias |
OMIM:248700 |
Intermediate Uveitis |
|
Posterior synechiae of the anterior chamber, Cataract, Band keratopathy |
ORPHA:279914 |
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Microphthalmia, Ectopia pupillae, Astigmatism, Cataract |
OMIM:618727 |
Microphthalmia With Limb Anomalies |
|
Microphthalmia, Anophthalmia, Unilateral cryptorchidism |
OMIM:206920 |
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Microphthalmia, Cryptorchidism, Small scrotum |
ORPHA:2728 |
Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Microphthalmia |
OMIM:300887 |
Mosaic Variegated Aneuploidy Syndrome |
|
Cataract, Corneal opacity, Vaginal neoplasm, Ambiguous genitalia, Microphthalmia, Hypothyroidism |
ORPHA:1052 |
Exudative Vitreoretinopathy 2, X-Linked |
|
Microphthalmia, Shallow anterior chamber |
OMIM:305390 |
Fryns Microphthalmia Syndrome |
|
Microphthalmia, Anophthalmia |
OMIM:600776 |
Cohen Syndrome |
|
Microphthalmia, Cryptorchidism, Iris coloboma, Delayed puberty |
ORPHA:193 |
X-Linked Dominant Chondrodysplasia Punctata |
|
Microcornea, Microphthalmia, Cataract |
ORPHA:35173 |
Monosomy 9Q22.3 |
|
Microphthalmia, Ovarian fibroma, Cataract |
ORPHA:77301 |
Ritscher-Schinzel Syndrome 3 |
|
Microphthalmia, Cryptorchidism |
OMIM:619135 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Microphthalmia, Sclerocornea, Thyroid C cell hyperplasia |
OMIM:300952 |
Congenital Fibrosis Of Extraocular Muscles |
|
Cataract, Hypogonadotropic hypogonadism, Optic nerve hypoplasia, Anisocoria, Abnormal pupil shape |
ORPHA:45358 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Cataract, Cryptorchidism, Patent ductus arteriosus, Microphthalmia, Hypothyroidism, Exocrine panc... |
OMIM:620005 |
Subaortic Stenosis-Short Stature Syndrome |
|
Microphthalmia, Type II diabetes mellitus |
ORPHA:3191 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Microphthalmia, Conjunctival hyperemia |
OMIM:167730 |
Solitary Median Maxillary Central Incisor |
|
Microphthalmia, Anterior hypopituitarism, Anophthalmia, Decreased response to growth hormone stim... |
OMIM:147250 |
Monosomy 18P |
|
Microphthalmia, Hypothyroidism |
ORPHA:1598 |
Chromosome 1Q41-Q42 Deletion Syndrome |
|
Microphthalmia, Cryptorchidism, Supernumerary nipple |
OMIM:612530 |
Bartsocas-Papas Syndrome 1 |
|
Pterygium, Absent external genitalia, Bilateral cryptorchidism, Hypoplastic labia majora, Poplite... |
OMIM:263650 |
Skin Creases, Congenital Symmetric Circumferential, 1 |
|
Microcornea, Microphthalmia, Hypoplastic nipples |
OMIM:156610 |
Fanconi Anemia, Complementation Group F |
|
Decreased response to growth hormone stimulation test, Cryptorchidism, Patent ductus arteriosus, ... |
OMIM:603467 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Microcornea, Microphthalmia, Cataract, Persistent pupillary membrane |
OMIM:257850 |
Hallermann-Streiff Syndrome |
|
Microphthalmia, Cryptorchidism, Hypothyroidism, Developmental cataract |
ORPHA:2108 |
Baraitser-Winter Syndrome 2 |
|
Microphthalmia |
OMIM:614583 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Bifid scrotum, Hypospadias, Cryptorchidism, Patent ductus arteriosus, Penoscrotal transposition, ... |
OMIM:619148 |
Microphthalmia, Syndromic 2 |
|
Anophthalmia, Hypospadias, Septate vagina, Cryptorchidism, Patent ductus arteriosus, Phthisis bul... |
OMIM:300166 |
Neuroocular Syndrome |
|
Hypoplasia of the fovea, Cataract, Brushfield spots, Lens coloboma, Blue irides, Microcornea, Pet... |
OMIM:619539 |
Marfan Syndrome |
|
Cataract, Ectopia lentis, Microspherophakia, Increased axial length of the globe, Hypoplasia of t... |
OMIM:154700 |
Hartsfield Syndrome |
|
Microphthalmia |
ORPHA:2117 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Hypospadias, Developmental cataract, Microcornea, Male urethral meatus stenosis, Microphthalmia, ... |
ORPHA:464738 |
2Q31.1 Microdeletion Syndrome |
|
Microphthalmia, Cryptorchidism, Abnormality of the hypothalamus-pituitary axis, Iris coloboma |
ORPHA:251014 |
Pierson Syndrome |
|
Rieger anomaly, Cataract, Hypoplasia of the ciliary body, Uveal ectropion, Hypoplasia of the iris... |
OMIM:609049 |
Curry-Jones Syndrome |
|
Microphthalmia, Iris coloboma |
ORPHA:1553 |
Joubert Syndrome 22 |
|
Microphthalmia |
OMIM:615665 |
Hallermann-Streiff Syndrome |
|
Microphthalmia, Cryptorchidism, Cataract, Iris coloboma |
OMIM:234100 |
Mend Syndrome |
|
Microphthalmia, Cryptorchidism, Cataract |
ORPHA:401973 |
Roberts Syndrome |
|
Cataract, Cryptorchidism, Long penis, Microphthalmia, Clitoral hypertrophy |
ORPHA:3103 |
Incontinentia Pigmenti |
|
Hypoplasia of the fovea, Cataract, Supernumerary nipple, Keratitis, Breast aplasia, Hypoplastic n... |
OMIM:308300 |
Chondrodysplasia Punctata, Autosomal Dominant |
|
Cataract |
OMIM:118650 |
Townes-Brocks Syndrome |
|
Bifid scrotum, Hypoplasia of penis, Rectoperineal fistula, Hypospadias, Cataract, Cryptorchidism,... |
ORPHA:857 |
Manitoba Oculotrichoanal Syndrome |
|
Microphthalmia, Anophthalmia, Vaginal atresia |
OMIM:248450 |
Dubowitz Syndrome |
|
Hypospadias, Cryptorchidism, Hypoplasia of the iris, Microphthalmia, Megalocornea, Iris coloboma |
OMIM:223370 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Abnormal penis morphology, Posterior embryotoxon, Anophthalmia, Hypospadias, Corneal opacity, Scl... |
ORPHA:2556 |
Pallister-Hall Syndrome |
|
Thyroid dysgenesis, Decreased circulating cortisol level, Decreased response to growth hormone st... |
OMIM:146510 |
Fanconi Anemia, Complementation Group J |
|
Microphthalmia |
OMIM:609054 |
Adams-Oliver Syndrome |
|
Microphthalmia, Cataract |
ORPHA:974 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Microphthalmia, Cataract, Optic nerve hypoplasia, Peters anomaly |
OMIM:614643 |
Cousin Syndrome |
|
Microcornea, Microphthalmia, Ambiguous genitalia, female, Ambiguous genitalia, male |
OMIM:260660 |
Incontinentia Pigmenti |
|
Cataract, Corneal opacity, Supernumerary nipple, Keratitis, Hyperhidrosis, Microphthalmia |
ORPHA:464 |
Leiomyomatosis, Diffuse, With Alport Syndrome |
|
Cataract, Lenticonus, Anterior lenticonus |
OMIM:308940 |
Pelvis-Shoulder Dysplasia |
|
Ambiguous genitalia, Microcornea, Bilateral microphthalmos, Iris coloboma |
ORPHA:2839 |
Microphthalmia-Brain Atrophy Syndrome |
|
Bilateral microphthalmos |
ORPHA:77299 |
Microphthalmia, Syndromic 9 |
|
Anophthalmia, Cryptorchidism, Patent ductus arteriosus, Bilateral microphthalmos, Hypoplasia of t... |
OMIM:601186 |
Oculo-Palato-Cerebral Syndrome |
|
Microphthalmia, Cataract, Leukocoria |
ORPHA:2714 |
Mosaic Trisomy 1 |
|
Microphthalmia, Micropenis, Penile hypospadias, Opacification of the corneal stroma |
ORPHA:1692 |
Proboscis Lateralis |
|
Cataract, Corneal opacity, External genital hypoplasia, Anophthalmia, Optic nerve hypoplasia, Pat... |
ORPHA:141099 |
Frontonasal Dysplasia 2 |
|
Bilateral cryptorchidism, Microphthalmia, Hypohidrosis |
OMIM:613451 |
Cockayne Syndrome B |
|
Anhidrosis, Cryptorchidism, Developmental cataract, Microcornea, Hypoplasia of the iris, Opacific... |
OMIM:133540 |
Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Microphthalmia, Cataract |
OMIM:302960 |
Charge Syndrome |
|
Bifid scrotum, Anophthalmia, Hypogonadotropic hypogonadism, Cryptorchidism, Patent ductus arterio... |
ORPHA:138 |
Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Hypoplasia of penis, Hypospadias, Adrenal hypoplasia, Cryptorchidism, Ambiguous genitalia, Microp... |
ORPHA:2166 |
Braddock-Carey Syndrome 2 |
|
Microphthalmia |
OMIM:619981 |
Lymphedema-Distichiasis Syndrome |
|
Patent ductus arteriosus, Conjunctivitis, Recurrent corneal erosions, Microphthalmia, Corneal ulc... |
OMIM:153400 |
Ring Chromosome 10 Syndrome |
|
Microphthalmia |
ORPHA:1438 |
Focal Dermal Hypoplasia |
|
Corneal opacity, Ectopia lentis, Patent ductus arteriosus, Hypoplasia of the iris, Microphthalmia... |
ORPHA:2092 |
Papillorenal Syndrome |
|
Microphthalmia, Cataract, Lens luxation |
OMIM:120330 |
Oculopalatocerebral Syndrome |
|
Microphthalmia, Leukocoria |
OMIM:257910 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Hypospadias, Cryptorchidism, Patent ductus arteriosus, Peters anomaly, Microphthalmia, Annular pa... |
OMIM:616975 |
Meckel Syndrome, Type 5 |
|
Microphthalmia, Bile duct proliferation |
OMIM:611561 |
Meckel Syndrome, Type 1 |
|
External genital hypoplasia, Adrenal hypoplasia, Cryptorchidism, Patent ductus arteriosus, Ambigu... |
OMIM:249000 |
Holoprosencephaly |
|
Hypoplasia of penis, Anophthalmia, Diabetes insipidus, Diabetes mellitus, Cryptorchidism, Microph... |
ORPHA:2162 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Microphthalmia, Ectopia pupillae, Corneal opacity, Lens subluxation |
ORPHA:85167 |
Ohdo Syndrome, X-Linked |
|
Small scrotum, Cryptorchidism, Shawl scrotum, Microphthalmia, Micropenis |
OMIM:300895 |
Autoimmune Polyendocrine Syndrome, Type Ii |
|
Hyperthyroidism, Cataract, Band keratopathy, Primary adrenal insufficiency, Thymoma, Keratoconjun... |
OMIM:269200 |
Galloway-Mowat Syndrome 1 |
|
Hypoplasia of the iris, Microphthalmia, Cataract, Opacification of the corneal stroma |
OMIM:251300 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Microphthalmia, Cataract |
OMIM:253800 |
Oculocerebrorenal Syndrome Of Lowe |
|
Hyperparathyroidism, Cataract, Corneal opacity, Cryptorchidism, Abnormal pupil morphology, Buphth... |
ORPHA:534 |
Fryns Syndrome |
|
Bifid scrotum, Ectopic pancreatic tissue, Hypospadias, Cryptorchidism, Bicornuate uterus, Opacifi... |
OMIM:229850 |
Trichothiodystrophy |
|
Cryptorchidism, Bilateral microphthalmos, Developmental cataract, Microcornea, Gonadal dysgenesis... |
ORPHA:33364 |
Premature Aging Syndrome, Penttinen Type |
|
Corneal stromal edema, Microphthalmia, Elevated circulating thyroid-stimulating hormone concentra... |
OMIM:601812 |
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome |
|
Microphthalmia, Iris coloboma, Supernumerary nipple |
ORPHA:1236 |
Cockayne Syndrome |
|
Anhidrosis, Cataract, Diabetes mellitus, Band keratopathy, Cryptorchidism, Absence of pubertal de... |
ORPHA:191 |
Myoclonic-Astatic Epilepsy |
|
Microphthalmia |
ORPHA:1942 |
22Q11.2 Deletion Syndrome |
|
Hypoparathyroidism, Cataract, Hypospadias, Hyperthyroidism, Cryptorchidism, Patent ductus arterio... |
ORPHA:567 |
Duane-Radial Ray Syndrome |
|
Microphthalmia, Cataract, Optic disc hypoplasia, Iris coloboma |
OMIM:607323 |
17Q12 Microduplication Syndrome |
|
Microphthalmia |
ORPHA:261272 |
Frontonasal Dysplasia 3 |
|
Microphthalmia |
OMIM:613456 |
Chromosome 13Q14 Deletion Syndrome |
|
Supernumerary nipple, Cryptorchidism, Microphthalmia, Micropenis, Iris coloboma |
OMIM:613884 |
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Microphthalmia, Optic nerve hypoplasia |
OMIM:614833 |
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies |
|
Microphthalmia, Supernumerary nipple |
OMIM:620098 |
Meckel Syndrome 14 |
|
Ambiguous genitalia, Microphthalmia, Aplasia of the uterus |
OMIM:619879 |
Meckel Syndrome, Type 2 |
|
Microphthalmia, Bile duct proliferation |
OMIM:603194 |
3P25.3 Microdeletion Syndrome |
|
Microphthalmia, Patent ductus arteriosus |
ORPHA:435638 |
Microphthalmia, Isolated 8 |
|
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia |
OMIM:615113 |
Hypoplasminogenemia |
|
Cervicitis, Abnormality of the ovary, Abnormal fallopian tube morphology |
ORPHA:722 |
Neu-Laxova Syndrome 1 |
|
Cataract, Bifid uterus, Cryptorchidism, Patent ductus arteriosus, Microphthalmia, Pterygium |
OMIM:256520 |
Skin Creases, Congenital Symmetric Circumferential, 2 |
|
Small scrotum, Hypospadias, Cryptorchidism, Microcornea, Microphthalmia |
OMIM:616734 |
Microphthalmia, Syndromic 6 |
|
Small scrotum, Female hypogonadism, Anophthalmia, Sclerocornea, Adrenal hypoplasia, Cryptorchidis... |
OMIM:607932 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Ambiguous genitalia, Cryptorchidism, Patent ductus arteriosus, Microphthalmia |
OMIM:616300 |
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome |
|
Microphthalmia, Ocular albinism |
ORPHA:1352 |
Myhre Syndrome |
|
Microphthalmia, Cryptorchidism, Patent ductus arteriosus, Cataract |
OMIM:139210 |
Meckel Syndrome, Type 4 |
|
Microphthalmia, Bile duct proliferation |
OMIM:611134 |
Linear Nevus Sebaceus Syndrome |
|
Microphthalmia, Adenoma sebaceum, Iris coloboma |
ORPHA:2612 |
Charge Syndrome |
|
Hypoparathyroidism, Cataract, Hypogonadotropic hypogonadism, Decreased response to growth hormone... |
OMIM:214800 |
Acro-Renal-Ocular Syndrome |
|
Cataract, Optic disc hypoplasia, Microcornea, Microphthalmia, Iris coloboma |
ORPHA:959 |
Aicardi Syndrome |
|
Precocious puberty, Microphthalmia, Cataract |
OMIM:304050 |
Holoprosencephaly 9 |
|
Anophthalmia, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasi... |
OMIM:610829 |
Stevenson-Carey Syndrome |
|
Microphthalmia |
OMIM:611961 |
Deafness, X-Linked 7 |
|
Unilateral microphthalmos |
OMIM:301018 |
Steinfeld Syndrome |
|
Microphthalmia, Absent gallbladder, Iris coloboma |
OMIM:184705 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Microphthalmia |
OMIM:300863 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Absent nipple, Aplasia of the thymus, Congenital hypothyroidism, Hydrocele testis, Hypoplastic ni... |
OMIM:620186 |
Fraser Syndrome 1 |
|
Anophthalmia, Hypospadias, Corneal opacity, Cryptorchidism, Bilateral microphthalmos, Bicornuate ... |
OMIM:219000 |
Yunis-Varon Syndrome |
|
Cataract, Hypospadias, Sclerocornea, Cryptorchidism, Bilateral microphthalmos, Hypoplastic labia ... |
ORPHA:3472 |
Renpenning Syndrome 1 |
|
Cataract, Hypospadias, Phimosis, Microphthalmia, Decreased testicular size |
OMIM:309500 |
Mowat-Wilson Syndrome |
|
Bifid scrotum, Cataract, Hypospadias, Supernumerary nipple, Cryptorchidism, Patent ductus arterio... |
OMIM:235730 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Bifid scrotum, Hypospadias, Cryptorchidism, Antecubital pterygium, Popliteal pterygium, Clitoral ... |
OMIM:609945 |
Frontofacionasal Dysplasia |
|
Microcornea, Microphthalmia, Cataract, Iris coloboma |
OMIM:229400 |
Cat Eye Syndrome |
|
Microphthalmia, Patent ductus arteriosus, Iris coloboma |
OMIM:115470 |
Oculodentodigital Dysplasia |
|
Microcornea, Microphthalmia, Cataract |
OMIM:164200 |
Heart And Brain Malformation Syndrome |
|
Microphthalmia |
OMIM:616920 |
Osteoporosis-Pseudoglioma Syndrome |
|
Iris atrophy, Cataract, Phthisis bulbi, Absent anterior chamber of the eye, Microphthalmia |
OMIM:259770 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Microphthalmia |
ORPHA:163966 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Absent gallbladder, Septate vagina, Uterus didelphys, Microphthalmia, Micropenis |
OMIM:617925 |
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Microphthalmia, Corneal opacity |
ORPHA:364577 |
Joubert Syndrome 2 |
|
Microphthalmia, Hypoplastic male external genitalia |
OMIM:608091 |
Pallister-Hall Syndrome |
|
Small scrotum, Adrenal hypoplasia, Gonadotropin deficiency, Micropenis, Aplasia/hypoplasia of the... |
ORPHA:672 |
Fraser Syndrome |
|
Hypoplasia of penis, Small scrotum, Hypospadias, Anophthalmia, Cryptorchidism, Bicornuate uterus,... |
ORPHA:2052 |
Fanconi Anemia, Complementation Group L |
|
Microphthalmia, Micropenis, Aplasia of the uterus |
OMIM:614083 |
Roberts-Sc Phocomelia Syndrome |
|
Cataract, Hypospadias, Enlarged labia minora, Corneal opacity, Cryptorchidism, Patent ductus arte... |
OMIM:268300 |
Monosomy 13Q14 |
|
Microphthalmia, Cataract, Iris coloboma |
ORPHA:1587 |
Focal Dermal Hypoplasia |
|
Anophthalmia, Supernumerary nipple, Ectopia lentis, Cryptorchidism, Clitoral hypoplasia, Hypoplas... |
OMIM:305600 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Hypospadias, Optic nerve hypoplasia, Microphthalmia, Iris coloboma, Exocrine pancreatic insuffici... |
ORPHA:508498 |
Joubert Syndrome 14 |
|
Microphthalmia |
OMIM:614424 |
Cockayne Syndrome Type 3 |
|
Cataract, Microcornea, Keratoconjunctivitis sicca, Lentiglobus, Microphthalmia, Corneal ulceration |
ORPHA:90324 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 10 |
|
Microphthalmia |
OMIM:619053 |
Sympathetic Ophthalmia |
|
Anterior chamber cells, Cataract, Corneal keratic precipitates, Posterior synechiae of the anteri... |
ORPHA:79098 |
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
Bilateral microphthalmos, Optic nerve hypoplasia |
OMIM:607597 |
Fetal Alcohol Syndrome |
|
Microphthalmia |
ORPHA:1915 |
Curry-Jones Syndrome |
|
Microphthalmia, Iris coloboma |
OMIM:601707 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Cataract, Buphthalmos, Hypoplasia of the retina, Opacification of the corneal stroma, Microphthal... |
OMIM:253280 |
Osteopetrosis, Autosomal Recessive 8 |
|
Unilateral microphthalmos |
OMIM:615085 |
Holoprosencephaly 7 |
|
Microphthalmia, Bilateral microphthalmos, Panhypopituitarism, Iris coloboma |
OMIM:610828 |
Acrofrontofacionasal Dysostosis 1 |
|
Microphthalmia, Iris atrophy |
OMIM:201180 |
Monosomy 9P |
|
Ambiguous genitalia, Cryptorchidism, Microphthalmia, Hypospadias |
ORPHA:261112 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Corneal opacity, Polycoria, Developmental cataract, Microcornea, Hypoplasia of the iris, Ectopia ... |
OMIM:175780 |
Witteveen-Kolk Syndrome |
|
Cataract, Hypospadias, Decreased response to growth hormone stimulation test, Unilateral cryptorc... |
OMIM:613406 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Anophthalmia, Microphthalmia, Cataract |
ORPHA:2526 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Microphthalmia, Absent gallbladder, Iris coloboma |
ORPHA:3186 |
Mycophenolate Mofetil Embryopathy |
|
Microphthalmia, Iris coloboma |
ORPHA:268249 |
Cerebrooculofacioskeletal Syndrome 4 |
|
Bilateral microphthalmos |
OMIM:610758 |
Fraser Syndrome 2 |
|
Ambiguous genitalia, Microphthalmia, Hypoplasia of the thymus |
OMIM:617666 |
Branchiooculofacial Syndrome |
|
Cataract, Hypospadias, Anophthalmia, Supernumerary nipple, Cryptorchidism, Microphthalmia, Ectopi... |
OMIM:113620 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Premature ovarian insufficiency, Female infertility, Hashimoto thyroiditis, High urinary gonadotr... |
ORPHA:99413 |
Mosaic Monosomy X |
|
Premature ovarian insufficiency, Female infertility, Hashimoto thyroiditis, High urinary gonadotr... |
ORPHA:99228 |
Monosomy X |
|
Premature ovarian insufficiency, Female infertility, Hashimoto thyroiditis, High urinary gonadotr... |
ORPHA:99226 |
Turner Syndrome |
|
Premature ovarian insufficiency, Female infertility, Hashimoto thyroiditis, High urinary gonadotr... |
ORPHA:881 |
Microgastria-Limb Reduction Defect Syndrome |
|
Microphthalmia, Anophthalmia, Rectovaginal fistula, Perineal fistula |
ORPHA:2538 |
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Microphthalmia, Cataract |
ORPHA:306542 |
Microphthalmia With Limb Anomalies |
|
Microphthalmia, Cryptorchidism, True anophthalmia |
ORPHA:1106 |
Fanconi Anemia, Complementation Group R |
|
Microphthalmia |
OMIM:617244 |
Fontaine Progeroid Syndrome |
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Small scrotum, Absent nipple, Cryptorchidism, Patent ductus arteriosus, Hypoplastic labia majora,... |
OMIM:612289 |
Aicardi Syndrome |
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Precocious puberty, Microphthalmia, Delayed puberty |
ORPHA:50 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
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Hypospadias, Optic nerve hypoplasia, Cryptorchidism, Bilateral microphthalmos, Microphallus |
ORPHA:468631 |
Momo Syndrome |
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Abnormality of the thyroid gland, Bilateral microphthalmos |
ORPHA:2563 |
Cryptophthalmos, Unilateral Or Bilateral, Isolated |
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Microphthalmia |
OMIM:123570 |
Microcephaly-Micromelia Syndrome |
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Microphthalmia |
OMIM:251230 |
Mowat-Wilson Syndrome |
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Bifid scrotum, Cataract, Hypospadias, Septate vagina, Cryptorchidism, Patent ductus arteriosus, H... |
ORPHA:2152 |
Oculotrichoanal Syndrome |
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Microphthalmia, Anophthalmia |
ORPHA:2717 |
Hydrolethalus Syndrome 1 |
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Hypospadias, Bifid uterus, Adrenal gland dysgenesis, Microphthalmia, Abnormal vagina morphology |
OMIM:236680 |
Galloway-Mowat Syndrome 3 |
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Microphthalmia |
OMIM:617729 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
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Bifid scrotum, Iris atrophy, Cataract, Hypospadias, Septate vagina, Cryptorchidism, Patent ductus... |
ORPHA:261552 |
Degcags Syndrome |
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Hypospadias, Cryptorchidism, Patent ductus arteriosus, Chordee, Ambiguous genitalia, Microphthalmia |
OMIM:619488 |
Adams-Oliver Syndrome 1 |
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Microphthalmia, Imperforate hymen, Supernumerary nipple |
OMIM:100300 |
Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
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Microphthalmia, Corneal opacity |
OMIM:608670 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
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Bifid scrotum, Cataract, Hypospadias, Septate vagina, Cryptorchidism, Hydrocele testis, Chordee, ... |
ORPHA:261537 |
Alström Syndrome |
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Posterior subcapsular cataract, Cataract |
ORPHA:64 |
Holoprosencephaly 2 |
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Adrenal hypoplasia, Microphthalmia, Diabetes insipidus, Iris coloboma, Anterior pituitary agenesis |
OMIM:157170 |
Teebi-Shaltout Syndrome |
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Microphthalmia |
OMIM:272950 |
Treacher Collins Syndrome 1 |
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Cryptorchidism, Bilateral microphthalmos, Abnormal parotid gland morphology |
OMIM:154500 |
Microphthalmia, Syndromic 1 |
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Anophthalmia, Hypospadias, Cryptorchidism, Microcornea, Ciliary body coloboma, Microphthalmia, Ir... |
OMIM:309800 |
Holoprosencephaly 1 |
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Microphthalmia, Micropenis, Diabetes insipidus, Adrenal hypoplasia |
OMIM:236100 |
Isolated Arrhinia |
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Microphthalmia |
ORPHA:1134 |
8Q24.3 Microdeletion Syndrome |
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Ectopic posterior pituitary, Optic nerve hypoplasia, Patent ductus arteriosus, Bilateral micropht... |
ORPHA:508488 |
Craniofacial Microsomia 1 |
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Limbal dermoid, Microphthalmia, Patent ductus arteriosus, Anophthalmia |
OMIM:164210 |