| Cataract 14, Multiple Types |
|
Zonular cataract |
OMIM:601885 |
| Cataract 41 |
|
Nuclear cataract |
OMIM:116400 |
| Cataract, Age-Related Nuclear |
|
Nuclear cataract |
OMIM:601371 |
| Cataract 18 |
|
Nuclear cataract |
OMIM:610019 |
| 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 |
| Hereditary Hyperferritinemia-Cataract Syndrome |
|
Cataract |
ORPHA:163 |
| Cataract 35 |
|
Cataract |
OMIM:609376 |
| Cataract 36 |
|
Cataract |
OMIM:613887 |
| Cataract 29 |
|
Cataract |
OMIM:115800 |
| Cataract 10, Multiple Types |
|
Nuclear cataract, Zonular cataract, Posterior Y-sutural cataract, Developmental cataract |
OMIM:600881 |
| Cataract 8, Multiple Types |
|
Nuclear cataract, Developmental cataract |
OMIM:115665 |
| Ectopia Lentis 2, Isolated, Autosomal Recessive |
|
Ectopia lentis |
OMIM:225100 |
| Ectopia Lentis 1, Isolated, Autosomal Dominant |
|
Ectopia lentis |
OMIM:129600 |
| Cataract 22, Multiple Types |
|
Nuclear cataract, Developmental cataract |
OMIM:609741 |
| Hyperferritinemia With Or Without Cataract |
|
Nuclear cataract, Pulverulent cataract |
OMIM:600886 |
| Cataract 1, Multiple Types |
|
Microcornea, Posterior subcapsular cataract, Nuclear cataract, Pulverulent cataract |
OMIM:116200 |
| Cataract 44 |
|
Developmental cataract |
OMIM:616509 |
| Hypertrophic Neuropathy And Cataract |
|
Cataract |
OMIM:239900 |
| Cataract And Congenital Ichthyosis |
|
Cataract |
OMIM:212400 |
| Cochleosaccular Degeneration With Progressive Cataracts |
|
Progressive cataract |
OMIM:120040 |
| Cataract 15, Multiple Types |
|
Lamellar cataract, Nuclear cataract, Cortical cataract |
OMIM:615274 |
| Cataract 33, Multiple Types |
|
Lamellar cataract, Nuclear cataract, Cortical cataract |
OMIM:611391 |
| Microphthalmia, Isolated, With Coloboma 4 |
|
Microcornea, Microphthalmia, Coloboma |
OMIM:251505 |
| Cataract 5, Multiple Types |
|
Pulverulent cataract, Nuclear cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract |
OMIM:116800 |
| Cataract 3, Multiple Types |
|
Nuclear pulverulent cataract, Sutural cataract, Cerulean cataract, Developmental cataract |
OMIM:601547 |
| Microphthalmia, Isolated, With Coloboma 3 |
|
Microphthalmia, Cataract, Iris coloboma |
OMIM:610092 |
| Microphthalmia, Isolated, With Cataract 1 |
|
Microphthalmia, Cataract |
OMIM:156850 |
| Microphthalmia, Isolated, With Coloboma 10 |
|
Anophthalmia, Microcoria, Optic pit, Chorioretinal coloboma, Microphthalmia, Iris coloboma |
OMIM:616428 |
| Cataract 30, Multiple Types |
|
Posterior polar cataract, Diffuse nuclear cataract, Pulverulent cataract |
OMIM:116300 |
| Cataract 17, Multiple Types |
|
Microcornea, Nuclear cataract, Pulverulent cataract, Developmental cataract |
OMIM:611544 |
| Cataract 40 |
|
Nuclear cataract, Sutural cataract |
OMIM:302200 |
| Cataract 2, Multiple Types |
|
Aculeiform cataract, Nuclear pulverulent cataract, Developmental cataract, Microcornea, Nuclear c... |
OMIM:604307 |
| Nanophthalmos 1 |
|
Bilateral microphthalmos |
OMIM:600165 |
| Microphthalmia, Isolated 7 |
|
Microphthalmia |
OMIM:613704 |
| Nanophthalmos 2 |
|
Microphthalmia |
OMIM:609549 |
| Microphthalmia, Isolated, With Coloboma 7 |
|
Microphthalmia, Iris coloboma, Inferior chorioretinal coloboma |
OMIM:614497 |
| Cataract 19, Multiple Types |
|
Cortical pulverulent cataract |
OMIM:615277 |
| 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 31, Multiple Types |
|
Posterior subcapsular cataract, Anterior subcapsular cataract, Nuclear cataract |
OMIM:605387 |
| Pupillary Membrane, Persistence Of |
|
Developmental cataract, Megalocornea, Persistent pupillary membrane |
OMIM:178900 |
| Cataract 7 |
|
Developmental cataract |
OMIM:115660 |
| Microphthalmia, Isolated 2 |
|
Microphthalmia, Opacification of the corneal stroma |
OMIM:610093 |
| Trichomegaly |
|
Cataract |
OMIM:190330 |
| Cataract 42 |
|
Cataract, Developmental cataract |
OMIM:115900 |
| Glaucoma-Ectopia Lentis-Microspherophakia-Stiff Joints-Short Stature Syndrome |
|
Ectopia lentis |
ORPHA:2084 |
| Microphthalmia, Isolated, With Coloboma 6 |
|
Hypoplasia of the fovea, Coloboma, Bilateral microphthalmos, Optic disc hypoplasia |
OMIM:613703 |
| Cataract 50 With Or Without Glaucoma |
|
Retinal detachment, Cataract, Persistent pupillary membrane |
OMIM:620253 |
| Cataract 20, Multiple Types |
|
Lamellar cataract, Membranous cataract, Sutural cataract, Cortical cataract |
OMIM:116100 |
| Foveal Hypoplasia 1 |
|
Hypoplasia of the fovea, Presenile cataracts |
OMIM:136520 |
| Retinal Dysplasia, Primary |
|
Retinal dysplasia, Falciform retinal fold |
OMIM:312550 |
| Congenital Primary Aphakia |
|
Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Sclerocornea, Conge... |
ORPHA:83461 |
| Aldh18A1-Related De Barsy Syndrome |
|
Cataract |
ORPHA:35664 |
| Hydrocephaly-Cerebellar Agenesis Syndrome |
|
Cataract |
ORPHA:1397 |
| Cataract 11, Multiple Types |
|
Microphthalmia, Cataract, Developmental cataract |
OMIM:610623 |
| Corneal Dystrophy, Groenouw Type I |
|
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy |
OMIM:121900 |
| X-Linked Endothelial Corneal Dystrophy |
|
Abnormal corneal endothelium morphology, Nuclear cataract, Corneal opacity, Band keratopathy |
ORPHA:293621 |
| Cataract 39, Multiple Types |
|
Lamellar cataract, Anterior polar cataract, Developmental cataract |
OMIM:615188 |
| Cataract 21, Multiple Types |
|
Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent cataract, Macular hypoplasi... |
OMIM:610202 |
| Cataract 23, Multiple Types |
|
Lamellar cataract |
OMIM:610425 |
| Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome |
|
Cataract |
ORPHA:73245 |
| Pentosuria |
|
Abnormal urine carbohydrate level, Abnormal circulating carbohydrate concentration, Abnormality o... |
ORPHA:2843 |
| Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy |
|
Juvenile cataract |
OMIM:212500 |
| Microphthalmia, Isolated 4 |
|
Microphthalmia, Coloboma |
OMIM:613094 |
| Cataract 9, Multiple Types |
|
Progressive cataract, Cataract, Developmental cataract, Microcornea, Microphthalmia, Iris coloboma |
OMIM:604219 |
| Galactosemia Iv |
|
Cataract |
OMIM:618881 |
| Anterior Segment Dysgenesis 2 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Coloboma, Posterior synechiae of the anteri... |
OMIM:610256 |
| X-Linked Corneal Dermoid |
|
Abnormal pupil morphology, Corneal opacity |
ORPHA:1661 |
| Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness |
|
Cataract, Chorioretinal coloboma |
OMIM:274205 |
| Nathalie Syndrome |
|
Cataract |
ORPHA:2663 |
| Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract |
|
Microcornea, Cataract, Aniridia |
OMIM:106230 |
| Uncombable Hair Syndrome 2 |
|
Juvenile cataract |
OMIM:617251 |
| Corneal Dystrophy, Lisch Epithelial |
|
Corneal dystrophy |
OMIM:300778 |
| Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Microcornea, Microphthalmia, Corneal opacity, Large for gestational age |
ORPHA:2432 |
| Bardet-Biedl Syndrome 18 |
|
Rod-cone dystrophy, Cataract, Retinal dystrophy, Obesity |
OMIM:615995 |
| Cataract-Ataxia-Deafness-Retardation Syndrome |
|
Developmental cataract |
OMIM:212710 |
| Iris Pigment Epithelium Anomalies |
|
Iris cyst |
OMIM:601616 |
| Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities |
|
Rod-cone dystrophy, Cataract |
OMIM:300719 |
| Chorea, Remitting, With Nystagmus And Cataract |
|
Cataract |
OMIM:601372 |
| Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay |
|
Cataract, Developmental cataract |
OMIM:613076 |
| Exfoliation Syndrome |
|
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab... |
OMIM:177650 |
| Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Microphthalmia, Cataract, Iris coloboma, Chorioretinal coloboma |
OMIM:120433 |
| Ectopia Lentis Et Pupillae |
|
Retinal detachment, Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Pe... |
OMIM:225200 |
| Microphthalmia, Isolated, With Coloboma 5 |
|
Anophthalmia, Bilateral microphthalmos, Chorioretinal coloboma, Microphthalmia, Iris coloboma |
OMIM:611638 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 3 |
|
Cataract |
ORPHA:79281 |
| Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Remnants of the hyaloid vascular system, Retinal dystrophy, Microcornea, Posterior lenticonus, Ch... |
ORPHA:231736 |
| Anterior Segment Dysgenesis 3 |
|
Rieger anomaly, Ectopia pupillae, Hypoplastic iris stroma, Axenfeld anomaly, Peters anomaly, Post... |
OMIM:601631 |
| X-Linked Retinoschisis |
|
Retinoschisis, Cataract |
ORPHA:792 |
| Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:85275 |
| Foveal Hypoplasia 2 |
|
Hypoplasia of the fovea, Astigmatism, Axenfeld anomaly, Foveal hyperpigmentation, Optic nerve mis... |
OMIM:609218 |
| Foveal Hypoplasia-Presenile Cataract Syndrome |
|
Cataract |
ORPHA:2253 |
| Aniridia-Intellectual Disability Syndrome |
|
Aniridia, Cataract, Optic nerve hypoplasia, Ectopia lentis |
ORPHA:1068 |
| Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane |
ORPHA:1067 |
| Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Cataract, Obesity, Retinal coloboma, Microphthalmia, Rod-cone dystrophy |
OMIM:601794 |
| Congenital Varicella Syndrome |
|
Microphthalmia, Cataract |
ORPHA:291 |
| Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Chorioretinal coloboma, Microphthal... |
ORPHA:1473 |
| Cataract-Microcornea Syndrome |
|
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma |
ORPHA:1377 |
| Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Cataract, Obesity, Retinal coloboma, Microphthalmia, Rod-cone dystrophy |
ORPHA:363741 |
| Norrie Disease |
|
Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Leukocoria, Hypoplasia of the iris,... |
OMIM:310600 |
| Galactosemia Ii |
|
Cataract |
OMIM:230200 |
| Blindness-Scoliosis-Arachnodactyly Syndrome |
|
Cataract, Lens subluxation, Microphakia |
ORPHA:171844 |
| Iris Pigment Layer, Cleavage Of |
|
Cataract |
OMIM:147610 |
| Coats Disease |
|
Retinal detachment, Cataract, Abnormal retinal vascular morphology, Aplasia/Hypoplasia of the iri... |
ORPHA:190 |
| Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism |
|
Cataract |
OMIM:254000 |
| Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features |
|
Hypoplasia of the fovea, Iris cyst, Optic atrophy |
OMIM:620086 |
| Spinocerebellar Degeneration With Macular Corneal Dystrophy, Congenital Cataracts, And Myopia |
|
Corneal dystrophy, Developmental cataract |
OMIM:271320 |
| Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Coloboma, Peters anomaly, Microphthalmia, Ocular anterior segment dysgenesis, Iris coloboma |
OMIM:610023 |
| Polycystic Kidney Disease 5 |
|
Stage 5 chronic kidney disease, Hepatosplenomegaly, Polycystic kidney dysplasia, Reduced renal co... |
OMIM:617610 |
| Microphthalmia, Syndromic 16 |
|
Microphthalmia, Anophthalmia, Sclerocornea |
OMIM:611038 |
| Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Cataract, Corneal opacity, Remnants of the hyaloid vascular system, Phthisis bulbi, Leukocoria, U... |
OMIM:221900 |
| Megalocornea |
|
Iridodonesis, Retinal detachment, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris... |
OMIM:309300 |
| Cataract 47 |
|
Microcornea, Cataract |
OMIM:612018 |
| Microphthalmia, Isolated 5 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Retinal pigment epithelial ... |
OMIM:611040 |
| Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome |
|
Aplasia/Hypoplasia of the lens, Cataract |
ORPHA:1381 |
| Glaucoma 3, Primary Congenital, D |
|
Corneal opacity, Primary congenital glaucoma, Ectopia lentis |
OMIM:613086 |
| Hypoalphalipoproteinemia, Primary, 2 |
|
Corneal arcus, Cataract |
OMIM:618463 |
| Stargardt Disease 1 |
|
Macular degeneration, Retinitis pigmentosa inversa, Bull's eye maculopathy |
OMIM:248200 |
| Autosomal Dominant Keratitis |
|
Hypoplasia of the fovea, Cataract, Keratitis, Abnormal corneal limbus morphology, Bilateral micro... |
ORPHA:2334 |
| Neutropenia, Severe Congenital, 9, Autosomal Dominant |
|
Cataract |
OMIM:619813 |
| Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Retinal detachment, Cataract, Retinal dystrophy, Macular atrophy, Corneal scarring, Buphthalmos, ... |
OMIM:212550 |
| Facial Clefting, Oblique, 1 |
|
Microphthalmia, Coloboma |
OMIM:600251 |
| Cahmr Syndrome |
|
Lamellar cataract |
OMIM:211770 |
| Spastic Paraparesis And Deafness |
|
Cataract |
OMIM:312910 |
| Spinocerebellar Ataxia, Autosomal Recessive 24 |
|
Cataract |
OMIM:617133 |
| Microphthalmia, Isolated 6 |
|
Microcornea, Microphthalmia, Retinal fold |
OMIM:613517 |
| Corneal Dystrophy, Posterior Amorphous |
|
Ectopia pupillae, Iris coloboma, Corneal dystrophy |
OMIM:612868 |
| Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Developmental cataract, Coloboma, Retinal dysplasia, Microphthalmia, Ocular anterior segment dysg... |
ORPHA:324416 |
| Anterior Segment Dysgenesis 7 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... |
OMIM:269400 |
| Persistent Hyperplastic Primary Vitreous |
|
Glial remnants anterior to the optic disc, Cataract, Corneal opacity, Hyaloid vascular remnant an... |
ORPHA:91495 |
| Microphthalmia, Syndromic 13 |
|
Microcornea, Microphthalmia, Iris coloboma, Chorioretinal coloboma |
OMIM:300915 |
| Proximal Myotonic Myopathy |
|
Cataract |
ORPHA:606 |
| Wagner Vitreoretinopathy |
|
Cataract, Retinal pigment epithelial atrophy, Optically empty vitreous, Optic atrophy, Chorioreti... |
OMIM:143200 |
| Retinal Dystrophy And Obesity |
|
Retinal detachment, Retinal pigment epithelial atrophy, Retinal dystrophy, Obesity, Astigmatism, ... |
OMIM:616188 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 4 |
|
Cataract |
OMIM:615412 |
| Optic Atrophy 3, Autosomal Dominant |
|
Optic disc pallor, Cataract, Optic atrophy |
OMIM:165300 |
| Microphthalmia, Isolated, With Corectopia |
|
Microphthalmia, Ectopia pupillae |
OMIM:156900 |
| Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma |
|
Macular atrophy, Shallow anterior chamber, Cystoid macular degeneration, Microphthalmia, Retinal ... |
OMIM:267760 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Retinal detachment, Abnormality of retinal pigmentation, Cataract, Retinal dystrophy, Chorioretin... |
OMIM:251270 |
| 2Q24 Microdeletion Syndrome |
|
Cataract, Small for gestational age, Abnormality iris morphology, Coloboma, Microphthalmia, Failu... |
ORPHA:1617 |
| Hemolytic Anemia Due To Glutathione Reductase Deficiency |
|
Cataract |
OMIM:618660 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 3 |
|
Microphthalmia, Chorioretinal dysplasia |
OMIM:616335 |
| Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome |
|
Truncal obesity, Cataract, Childhood-onset truncal obesity, Retinal dystrophy |
OMIM:610156 |
| Anterior Segment Dysgenesis 5 |
|
Hypoplasia of the fovea, Rieger anomaly, Sclerocornea, Developmental cataract, Microcornea, Hypop... |
OMIM:604229 |
| Retinitis Pigmentosa 40 |
|
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Cataract, Attenuation of retinal blo... |
OMIM:613801 |
| Woolly Hair |
|
Abnormal pupil morphology, Cataract, Abnormal retinal morphology |
ORPHA:170 |
| Aniridia 2 |
|
Cataract, Optic atrophy, Lens subluxation, Aniridia, Iris coloboma |
OMIM:617141 |
| Corneal Dystrophy, Epithelial Basement Membrane |
|
Map-dot-fingerprint corneal dystrophy, Corneal dystrophy, Recurrent corneal erosions |
OMIM:121820 |
| Retinitis Pigmentosa 84 |
|
Bone spicule pigmentation of the retina, Cataract, Macular atrophy, Macular coloboma, Rod-cone dy... |
OMIM:618220 |
| Macular Dystrophy, Corneal |
|
Punctate opacification of the cornea, Macular dystrophy, Corneal dystrophy, Recurrent corneal ero... |
OMIM:217800 |
| Xeroderma Pigmentosum, Complementation Group G |
|
Microphthalmia, Cataract |
OMIM:278780 |
| Microphthalmia, Isolated 1 |
|
Microphthalmia, Anophthalmia |
OMIM:251600 |
| X-Linked Recessive Ocular Albinism |
|
Hypoplasia of the fovea, Abnormal pupil morphology, Ocular albinism, Astigmatism, Abnormal macula... |
ORPHA:54 |
| Corneal Dystrophy, Posterior Polymorphous, 2 |
|
Corneal opacity, Corneal dystrophy |
OMIM:609140 |
| Birdshot Chorioretinopathy |
|
Retinal detachment, Optic disc pallor, Cataract, Abnormal chorioretinal morphology, Choroidal neo... |
ORPHA:179 |
| Premature Ovarian Failure 12 |
|
Microphthalmia |
OMIM:616947 |
| Oculopalatocerebral Syndrome |
|
Microphthalmia, Remnants of the hyaloid vascular system, Leukocoria |
OMIM:257910 |
| Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Microcornea, Microphthalmia, Cataract |
ORPHA:2528 |
| Nanophthalmos |
|
Microphthalmia, Abnormality of retinal pigmentation, Abnormal choroid morphology |
ORPHA:35612 |
| Nathalie Syndrome |
|
Cataract |
OMIM:255990 |
| Oculoauricular Syndrome |
|
Cataract, Sclerocornea, Phthisis bulbi, Developmental cataract, Microcornea, Iris cyst, Macular h... |
OMIM:612109 |
| Corneal Dystrophy, Endothelial, X-Linked |
|
Corneal opacity, Corneal dystrophy, Band keratopathy |
OMIM:300779 |
| Exudative Vitreoretinopathy 2, X-Linked |
|
Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Peripheral vitreous ... |
OMIM:305390 |
| Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma |
|
Iridodonesis, Ectopia lentis, Microspherophakia, Deep anterior chamber, Buphthalmos, Megalocornea |
OMIM:251750 |
| Weill-Marchesani Syndrome 3 |
|
Shallow anterior chamber, Microspherophakia, Ectopia lentis |
OMIM:614819 |
| Stickler Syndrome Type 2 |
|
Retinal detachment, Cataract, Corneal opacity, Abnormal vitreous humor morphology, Retinopathy |
ORPHA:90654 |
| Cataract-Nephropathy-Encephalopathy Syndrome |
|
Cataract |
ORPHA:1380 |
| Isolated Aniridia |
|
Aniridia, Cataract, Aplasia/Hypoplasia of the macula, Peters anomaly |
ORPHA:250923 |
| Dysequilibrium Syndrome |
|
Cataract |
ORPHA:1766 |
| Myopia 17, Autosomal Dominant |
|
Presenile cataracts |
OMIM:608367 |
| Hypomyelination-Congenital Cataract Syndrome |
|
Developmental cataract |
ORPHA:85163 |
| Blepharoptosis, Myopia, And Ectopia Lentis |
|
Increased axial length of the globe, Ectopia lentis |
OMIM:110150 |
| Retinitis Pigmentosa 9 |
|
Bone spicule pigmentation of the retina, Cataract, Macular atrophy, Macular edema, Rod-cone dystr... |
OMIM:180104 |
| Familial Exudative Vitreoretinopathy |
|
Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Cataract, Rhegmatog... |
ORPHA:891 |
| Ring Dermoid Of Cornea |
|
Corneal astigmatism, Abnormal corneal limbus morphology, Abnormal cornea morphology, Abnormal con... |
OMIM:180550 |
| Corneal Dystrophy, Posterior Polymorphous, 1 |
|
Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ... |
OMIM:122000 |
| Fuchs Heterochromic Iridocyclitis |
|
Anterior chamber inflammatory cells, Iris atrophy, Papilledema, Cataract, Optic disc pallor, Reti... |
ORPHA:263479 |
| Corneal Dystrophy, Posterior Polymorphous, 3 |
|
Keratoconus, Ectopia pupillae, Corneal dystrophy, Corneal guttata |
OMIM:609141 |
| Iridocorneal Endothelial Syndrome |
|
Iris atrophy, Central heterochromia, Uveal ectropion, Abnormal migration of corneal endothelium, ... |
ORPHA:64734 |
| Optic Atrophy 10 With Or Without Ataxia, Impaired Intellectual Development, And Seizures |
|
Cerulean cataract |
OMIM:616732 |
| Cornea Plana 2, Autosomal Recessive |
|
Flat cornea, Corneal opacity, Sclerocornea, Corneal arcus, Decreased corneal thickness, Microphth... |
OMIM:217300 |
| Vitreoretinal Degeneration, Snowflake Type |
|
Retinal detachment, Cataract, Snowflake vitreoretinal degeneration, Optically empty vitreous, Ret... |
OMIM:193230 |
| Cone-Rod Dystrophy 16 |
|
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Ma... |
OMIM:614500 |
| Congenital Microcoria |
|
Developmental cataract, Corneal stromal edema, Iris transillumination defect, Nuclear cataract, A... |
ORPHA:566 |
| Myopia, High, With Cataract And Vitreoretinal Degeneration |
|
Retinal detachment, Cataract, Vitreous floaters, Lattice retinal degeneration, Lens subluxation, ... |
OMIM:614292 |
| Schnyder Corneal Dystrophy |
|
Corneal dystrophy, Crystalline corneal dystrophy |
OMIM:121800 |
| Central Cloudy Dystrophy Of Francois |
|
Central corneal dystrophy, Corneal dystrophy |
OMIM:217600 |
| Retinitis Pigmentosa 37 |
|
Posterior subcapsular cataract, Nuclear cataract |
OMIM:611131 |
| Congenital Megacalycosis |
|
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... |
ORPHA:93109 |
| Senior-Loken Syndrome 7 |
|
Retinal degeneration, Nephronophthisis |
OMIM:613615 |
| Uveal Melanoma |
|
Retinal detachment, Iris melanoma, Inferior lens subluxation, Abnormal fundus morphology, Vitreou... |
ORPHA:39044 |
| Cataract-Deafness-Hypogonadism Syndrome |
|
Developmental cataract |
ORPHA:1383 |
| Morm Syndrome |
|
Truncal obesity, Cataract, Retinal dystrophy, Retinal atrophy |
ORPHA:75858 |
| Exudative Vitreoretinopathy 7 |
|
Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold, Retinal degeneration |
OMIM:617572 |
| Glaucoma 3, Primary Infantile, B |
|
Primary congenital glaucoma |
OMIM:600975 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Optic disc pallor, Cataract, Macular atrophy, Optic atrophy, Microcornea, Microphthalmia, Retinop... |
OMIM:616171 |
| Phacoanaphylactic Uveitis |
|
Abnormal pupil morphology, Vitritis, Pseudophakia, Posterior uveitis, Corneal keratic precipitate... |
ORPHA:209959 |
| Coats Disease |
|
Exudative retinal detachment, Leukocoria, Retinal telangiectasia |
OMIM:300216 |
| Retinitis Pigmentosa 56 |
|
Posterior subcapsular cataract, Nuclear cataract |
OMIM:613581 |
| Aniridia 1 |
|
Hypoplasia of the fovea, Anterior subcapsular cataract, Cataract, Optic nerve hypoplasia, Ectopia... |
OMIM:106210 |
| Cataract 49 |
|
Posterior cortical cataract |
OMIM:619593 |
| Posterior Polymorphous Corneal Dystrophy |
|
Increased corneal curvature, Corneal opacity, Chorioretinal degeneration, Uveal ectropion, Abnorm... |
ORPHA:98973 |
| Gombo Syndrome |
|
Microphthalmia |
OMIM:233270 |
| Aniridia And Absent Patella |
|
Aniridia, Cataract |
OMIM:106220 |
| Microcoria, Congenital |
|
Microcoria, Hypoplasia of the iris dilator muscle |
OMIM:156600 |
| Retinitis Pigmentosa 4 |
|
Bone spicule pigmentation of the retina, Cataract, Retinal atrophy, Pigmentary retinopathy, Rod-c... |
OMIM:613731 |
| Myopia 28, Autosomal Recessive |
|
Cataract |
OMIM:619781 |
| Aniridia 3 |
|
Aniridia, Cataract |
OMIM:617142 |
| Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1 |
|
Microcornea, Cataract |
OMIM:619082 |
| Charcot-Marie-Tooth Disease Type 1B |
|
Abnormal pupil morphology |
ORPHA:101082 |
| Retinal Dystrophy With Or Without Macular Staphyloma |
|
Posterior subcapsular cataract, Nuclear cataract |
OMIM:617547 |
| Retinoschisis 1, X-Linked, Juvenile |
|
Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Macula... |
OMIM:312700 |
| Corneal Dystrophy-Perceptive Deafness Syndrome |
|
Corneal opacity, Corneal dystrophy |
ORPHA:1490 |
| Spastic Paraparesis-Deafness Syndrome |
|
Cataract |
ORPHA:2815 |
| Exudative Vitreoretinopathy 3 |
|
Retinal detachment, Retinal exudate, Exudative vitreoretinopathy, Retinal hole, Retinal fold |
OMIM:605750 |
| Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
Microphthalmia |
OMIM:251700 |
| Bardet-Biedl Syndrome 13 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Obesity, Attenuation of retinal bloo... |
OMIM:615990 |
| Chromosome 16Q12 Duplication Syndrome |
|
Anisocoria, Retinal pigment epithelial mottling, Cataract, Temporal optic disc pallor |
OMIM:619649 |
| Vitreoretinochoroidopathy |
|
Retinal detachment, Retinal arteriolar occlusion, Pulverulent cataract, Developmental cataract, M... |
OMIM:193220 |
| Dermoids Of Cornea |
|
Corneal opacity |
OMIM:304730 |
| Oculocutaneous Albinism Type 6 |
|
Abnormal iris pigmentation, Aplasia/Hypoplasia of the macula, Abnormal fundus morphology, Abnorma... |
ORPHA:370097 |
| Yemenite Deaf-Blind Hypopigmentation Syndrome |
|
Microcornea, Iris coloboma, Chorioretinal coloboma |
OMIM:601706 |
| Exudative Vitreoretinopathy 6 |
|
Nuclear cataract, Cataract, Cortical cataract |
OMIM:616468 |
| Leber Congenital Amaurosis 8 |
|
Keratoconus, Cataract, Macular coloboma, Chorioretinal atrophy, Nummular pigmentation of the fund... |
OMIM:613835 |
| Amoebic Keratitis |
|
Iris atrophy, Anterior uveitis, Cataract, Abnormal posterior eye segment morphology, Abnormal cor... |
ORPHA:67043 |
| Spondylo-Ocular Syndrome |
|
Cataract, Microphthalmia, Aplasia/Hypoplasia of the lens, Iris hypopigmentation |
ORPHA:85194 |
| Hec Syndrome |
|
Abnormal retinal vascular morphology, Abnormal pupil morphology, Developmental cataract |
ORPHA:2119 |
| Neovascular Glaucoma |
|
Retinal detachment, Abnormal posterior eye segment morphology, Iris neovascularization, Retinal v... |
ORPHA:94058 |
| Exudative Vitreoretinopathy 5 |
|
Exudative vitreoretinopathy, Shallow anterior chamber, Falciform retinal fold, Retinal exudate, T... |
OMIM:613310 |
| Leber Congenital Amaurosis 7 |
|
Keratoconus, Cataract |
OMIM:613829 |
| Late-Onset Retinal Degeneration |
|
Sub-RPE deposits, Choroidal neovascularization, Chorioretinal degeneration, Retinopathy, Retinal ... |
OMIM:605670 |
| Kyrle Disease |
|
Posterior subcapsular cataract |
OMIM:149500 |
| Cataract 43 |
|
Posterior subcapsular cataract |
OMIM:616279 |
| Biemond Syndrome Type 2 |
|
Microphthalmia, Coloboma |
ORPHA:141333 |
| Leg, Absence Deformity Of, With Congenital Cataract |
|
Progressive cataract, Developmental cataract |
OMIM:246000 |
| Microphthalmia, Isolated, With Coloboma 9 |
|
Retinal detachment, Macular coloboma, Sclerocornea, Microcornea, Microphthalmia, Ocular anterior ... |
OMIM:615145 |
| Microphthalmia With Brain And Digit Anomalies |
|
Cataract, Anophthalmia, Retinal dystrophy, Sclerocornea, Microcornea, Chorioretinal coloboma, Mic... |
ORPHA:139471 |
| Retinitis Pigmentosa 13 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Optic disc drusen, Perifoveal ring o... |
OMIM:600059 |
| Isolated Ectopia Lentis |
|
Ectopia pupillae, Cataract, Ectopia lentis |
ORPHA:1885 |
| Coloboma, Ocular, Autosomal Dominant |
|
Optic nerve aplasia, Corneal opacity, Remnants of the hyaloid vascular system, Morning glory anom... |
OMIM:120200 |
| X-Linked Retinal Dysplasia |
|
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia |
ORPHA:1852 |
| Corneal Dystrophy, Posterior Polymorphous, 4 |
|
Ectopia pupillae |
OMIM:618031 |
| Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome |
|
Failure to thrive, Cataract |
ORPHA:2278 |
| Myopathy, Tubular Aggregate, 1 |
|
Abnormal pupil morphology |
OMIM:160565 |
| Leber Congenital Amaurosis 2 |
|
Keratoconus, Optic disc pallor, Cataract, Fundus atrophy, Absent foveal reflex, Pigmentary retino... |
OMIM:204100 |
| Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Cataract, Anophthalmia, Sclerocornea, Microcornea, Coloboma, Ectopia pupillae, Microphthalmia |
OMIM:615877 |
| Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome |
|
Bone spicule pigmentation of the retina, Cataract, Retinal dystrophy, Retinal pigment epithelial ... |
OMIM:616108 |
| Immunodeficiency, Common Variable, 6 |
|
Hepatomegaly, Glomerulonephritis, Stage 5 chronic kidney disease, Mesangial Immune complex deposi... |
OMIM:613496 |
| Dermochondrocorneal Dystrophy |
|
Subepithelial corneal opacities, Corneal dystrophy, Anterior cortical cataract |
OMIM:221800 |
| Macrophthalmia, Colobomatous, With Microcornea |
|
Flat cornea, Macular atrophy, Optic disc coloboma, Increased axial length of the globe, Microcorn... |
OMIM:602499 |
| Blue Cone Monochromatism |
|
Abnormality of retinal pigmentation, Corneal dystrophy |
ORPHA:16 |
| Anterior Segment Dysgenesis 1 |
|
Microcornea, Opacification of the corneal stroma, Peters anomaly, Posterior polar cataract, Ocula... |
OMIM:107250 |
| Galactokinase Deficiency |
|
Nuclear cataract, Cataract |
ORPHA:79237 |
| Microphthalmia, Syndromic 5 |
|
Cataract, Anophthalmia, Optic nerve hypoplasia, Retinal dystrophy, Microcornea, Coloboma, Microph... |
OMIM:610125 |
| Thanatophoric Dysplasia, Glasgow Variant |
|
Cataract |
OMIM:273680 |
| Familial Drusen |
|
Abnormality of retinal pigmentation, Macular drusen, Peripapillary chorioretinal atrophy, Choroid... |
ORPHA:75376 |
| Peters Anomaly |
|
Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c... |
ORPHA:708 |
| Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome |
|
Retinal dystrophy, Peripheral retinal atrophy, Absent foveal reflex, Microcornea, Iris coloboma |
OMIM:615147 |
| Cat-Eye Syndrome |
|
Microphthalmia, Iris coloboma, Chorioretinal coloboma |
ORPHA:195 |
| Idiopathic Uveal Effusion Syndrome |
|
Abnormal anterior eye segment morphology, Subretinal fluid, Exudative retinal detachment, Microph... |
ORPHA:209956 |
| Pellagra-Like Syndrome |
|
Cataract |
OMIM:260650 |
| Retinal Dystrophy And Iris Coloboma With Or Without Cataract |
|
Retinal atrophy, Posterior synechiae of the anterior chamber, Iris coloboma, Developmental cataract |
OMIM:616722 |
| Retinopathy, Pericentral Pigmentary, Dominant |
|
Bone spicule pigmentation of the retina, Retinal atrophy, Retinal dystrophy, Pigmentary retinopat... |
OMIM:180210 |
| Bilateral Acute Depigmentation Of The Iris |
|
Iris pigment dispersion, Abnormal corneal endothelium morphology, Abnormal iris pigmentation, Pig... |
ORPHA:69736 |
| Autosomal Recessive Spastic Paraplegia Type 69 |
|
Cataract |
ORPHA:401830 |
| Loose Anagen Syndrome |
|
Iris coloboma |
ORPHA:168 |
| Morning Glory Disc Anomaly |
|
Retinal detachment, Optic disc coloboma, Cataract, Abnormality of retinal pigmentation |
ORPHA:35737 |
| Leukoencephalopathy With Vanishing White Matter 2 |
|
Cataract, Optic atrophy |
OMIM:620312 |
| Glaucoma 3, Primary Congenital, E |
|
Corneal stromal edema, Megalocornea, Increased cup-to-disc ratio |
OMIM:617272 |
| Nanophthalmos 4 |
|
Microphthalmia |
OMIM:615972 |
| Leber Congenital Amaurosis 6 |
|
Keratoconus, Cataract, Attenuation of retinal blood vessels |
OMIM:613826 |
| Dihydropyrimidine Dehydrogenase Deficiency |
|
Microphthalmia, Coloboma |
OMIM:274270 |
| Microphthalmia, Isolated 8 |
|
Anophthalmia, Optic nerve hypoplasia, Retinal coloboma, Microphthalmia, True anophthalmia |
OMIM:615113 |
| Upper Limb Defect-Eye And Ear Abnormalities Syndrome |
|
Cataract, Chorioretinal coloboma |
ORPHA:2489 |
| Ectopia Pupillae |
|
Ectopia pupillae |
OMIM:129750 |
| Woolly Hair Nevus |
|
Heterochromia iridis, Persistent pupillary membrane |
ORPHA:79414 |
| Deafness, Autosomal Recessive 108 |
|
Iris coloboma |
OMIM:617654 |
| Late-Onset Retinal Degeneration |
|
Iris atrophy, Multifocal subretinal deposits, Choroidal neovascularization, Macular atrophy, Drus... |
ORPHA:67042 |
| Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Microphthalmia, Optic atrophy, Abnormality of retinal pigmentation |
ORPHA:1574 |
| Chromosome 11P13 Deletion Syndrome, Distal |
|
Aniridia |
OMIM:616902 |
| Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Retinal atrophy, Corneal opacity, R... |
ORPHA:85167 |
| Oculo-Palato-Cerebral Syndrome |
|
Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Leukocoria, Microphthalmia |
ORPHA:2714 |
| Otodental Syndrome |
|
Cataract, Lens coloboma, Microcornea, Retinal coloboma, Microphthalmia, Iris coloboma |
ORPHA:2791 |
| Cornea Guttata With Anterior Polar Cataracts |
|
Anterior polar cataract |
OMIM:121390 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3 |
|
Cataract |
OMIM:609115 |
| X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Cataract, Small for gestational age |
ORPHA:85288 |
| Spinocerebellar Degeneration And Corneal Dystrophy |
|
Corneal stromal edema, Corneal dystrophy, Opacification of the corneal stroma |
OMIM:271310 |
| Short Syndrome |
|
Posterior embryotoxon, Corneal opacity, Abnormal pupil morphology, Weight loss, Hypoplasia of the... |
ORPHA:3163 |
| Cofs Syndrome |
|
Optic atrophy, Microphthalmia, Cataract, Abnormality of retinal pigmentation |
ORPHA:1466 |
| Corneal Dystrophy, Fuchs Endothelial, 1 |
|
Corneal dystrophy, Corneal stromal edema, Corneal guttata, Corneal degeneration, Descemet Membran... |
OMIM:136800 |
| Cochleosaccular Degeneration-Cataract Syndrome |
|
Cataract |
ORPHA:3233 |
| Nephronophthisis 2 |
|
Absence of renal corticomedullary differentiation, Elevated circulating creatinine concentration,... |
OMIM:602088 |
| Kahrizi Syndrome |
|
Cataract, Iris coloboma |
OMIM:612713 |
| Cataract 32, Multiple Types |
|
Anterior polar cataract |
OMIM:115650 |
| Cataract 48 |
|
Cataract |
OMIM:618415 |
| Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
|
Retinal detachment, Cataract, Corneal opacity, Chorioretinal dysplasia, Chorioretinal lacunae, My... |
OMIM:152950 |
| Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts |
|
Cataract, Retinopathy |
OMIM:183800 |
| Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Cataract, Microcornea, Iris transillumination defect, Coloboma, Decreased body weight, Microphtha... |
OMIM:617306 |
| Hypogonadism-Cataract Syndrome |
|
Cataract |
OMIM:240950 |
| Nance-Horan Syndrome |
|
Microcornea, Microphthalmia, Retinal detachment, Cataract |
ORPHA:627 |
| Unilateral Ocular Duplication |
|
Microcornea, Abnormal pupil morphology, Iris coloboma |
ORPHA:3374 |
| Insulinomatosis And Diabetes Mellitus |
|
Developmental glaucoma, Developmental cataract |
OMIM:147630 |
| Nephronophthisis 16 |
|
Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Nephronophthisi... |
OMIM:615382 |
| Ophthalmoplegia, Familial Static |
|
Anisocoria |
OMIM:165000 |
| Coloboma, Ocular, Autosomal Recessive |
|
Cataract, Optic disc coloboma, Retinal coloboma, Lens subluxation, Iris coloboma |
OMIM:216820 |
| Facial Spasm |
|
Anisocoria |
OMIM:134300 |
| Corneal Dystrophy And Perceptive Deafness |
|
Corneal dystrophy, Opacification of the corneal stroma |
OMIM:217400 |
| Pierson Syndrome |
|
Retinal vascular tortuosity, Retinal detachment, Rieger anomaly, Cataract, Hypoplasia of the cili... |
OMIM:609049 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type |
|
Cataract |
OMIM:300261 |
| Stickler Syndrome, Type V |
|
Retinal detachment, Cataract, Vitreoretinopathy |
OMIM:614284 |
| Bardet-Biedl Syndrome 11 |
|
Retinopathy, Obesity |
OMIM:615988 |
| Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome |
|
Nuclear cataract |
ORPHA:2848 |
| Edict Syndrome |
|
Keratoconus, Microcornea, Hypoplasia of the iris, Astigmatism, Anterior polar cataract |
OMIM:614303 |
| Cataract 6, Multiple Types |
|
Posterior polar cataract, Developmental cataract |
OMIM:116600 |
| Coloboma Of Macula With Type B Brachydactyly |
|
Coloboma |
OMIM:120400 |
| Lattice Corneal Dystrophy Type I |
|
Subepithelial corneal opacities, Corneal opacity, Central opacification of the cornea, Corneal sc... |
ORPHA:98964 |
| Cataract 24 |
|
Anterior polar cataract |
OMIM:601202 |
| Corneal Dystrophy, Congenital Stromal |
|
Band-shaped corneal dystrophy, Corneal erosion, Increased corneal thickness, Corneal dystrophy |
OMIM:610048 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Retinal detachment, Microphthalmia, Cataract, Optic nerve hypoplasia |
OMIM:615181 |
| Retinitis Pigmentosa 2 |
|
Cataract, Bull's eye maculopathy, Chorioretinal degeneration, Fundus atrophy, Pigmentary retinopa... |
OMIM:312600 |
| Exudative Vitreoretinopathy 4 |
|
Peripheral retinal avascularization, Posterior vitreous detachment, Vitreous hemorrhage, Exudativ... |
OMIM:601813 |
| Alexander Disease |
|
Microcoria |
OMIM:203450 |
| Hirschsprung Disease-Ganglioneuroblastoma Syndrome |
|
Abnormal pupil morphology |
ORPHA:2151 |
| Bardet-Biedl Syndrome 9 |
|
Bone spicule pigmentation of the retina, Cataract, Obesity, Truncal obesity, Astigmatism, Rod-con... |
OMIM:615986 |
| Hepatorenocardiac Degenerative Fibrosis |
|
Renal cyst, Hepatosplenomegaly, Tubular luminal dilatation, Renal interstitial fibrosis, Reduced ... |
OMIM:619902 |
| Klippel-Feil Syndrome 3, Autosomal Dominant |
|
Iris coloboma, Chorioretinal coloboma |
OMIM:613702 |
| Absence Deformity Of Leg-Cataract Syndrome |
|
Cataract |
ORPHA:2310 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Retinal detachment, Cataract, Corneal opacity, Coloboma, Microphthalmia |
OMIM:613153 |
| Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Microphthalmia, Cataract, Optic disc pallor |
OMIM:613730 |
| Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome |
|
Cataract, Corneal dystrophy |
ORPHA:1369 |
| Cutis Marmorata Telangiectatica Congenita |
|
Retinal detachment, Leukocoria |
OMIM:219250 |
| Ceroid Lipofuscinosis, Neuronal, 3 |
|
Cataract, Optic atrophy, Macular degeneration, Rod-cone dystrophy, Retinal degeneration |
OMIM:204200 |
| Bardet-Biedl Syndrome 14 |
|
Rod-cone dystrophy, Obesity |
OMIM:615991 |
| Morquio Syndrome C |
|
Corneal opacity |
OMIM:252300 |
| Temtamy Syndrome |
|
Microphthalmia, Iris coloboma, Chorioretinal coloboma |
ORPHA:1777 |
| Axenfeld-Rieger Syndrome, Type 3 |
|
Hypoplasia of the iris, Posterior embryotoxon, Ectopia pupillae, Posterior synechiae of the anter... |
OMIM:602482 |
| Exudative Vitreoretinopathy 1 |
|
Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Vitreous hemorrhage, ... |
OMIM:133780 |
| Leber Congenital Amaurosis 1 |
|
Keratoconus, Cataract, Fundus atrophy, Optic disc drusen, Pigmentary retinopathy, Attenuation of ... |
OMIM:204000 |
| Maturity-Onset Diabetes Of The Young, Type 11 |
|
Overweight, Obesity |
OMIM:613375 |
| Bardet-Biedl Syndrome 10 |
|
Rod-cone dystrophy, Retinal dystrophy, Obesity |
OMIM:615987 |
| Nail-Patella Syndrome |
|
Keratoconus, Cataract, Antecubital pterygium, Microcornea, Microphakia, Lester's sign |
OMIM:161200 |
| Proteus-Like Syndrome |
|
Retinal detachment, Cataract, Abnormal pupil morphology, Limbal dermoid, Heterochromia iridis |
ORPHA:2969 |
| Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Cataract, Optic atrophy, Ectopia pupillae, Astigmatism, Microphthalmia |
OMIM:618727 |
| Pelvis-Shoulder Dysplasia |
|
Microphthalmia, Optic disc coloboma, Iris coloboma, Opacification of the corneal stroma |
OMIM:169550 |
| Spondyloepiphyseal Dysplasia, Kondo-Fu Type |
|
Cataract, Small for gestational age, Decreased body weight |
OMIM:618392 |
| Intermediate Uveitis |
|
Anterior uveitis, Cataract, Vitreous haze, Band keratopathy, Epiretinal membrane, Vitreous floate... |
ORPHA:279914 |
| Oculorenocerebellar Syndrome |
|
Glomerular sclerosis, Nephropathy, Retinal degeneration |
OMIM:257970 |
| Nephronophthisis 14 |
|
Polycystic kidney dysplasia, Retinal degeneration, Nephronophthisis |
OMIM:614844 |
| Retinitis Pigmentosa 86 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... |
OMIM:618613 |
| Retinitis Pigmentosa 70 |
|
Optic disc pallor, Macular degeneration, Rod-cone dystrophy, Retinal degeneration, Attenuation of... |
OMIM:615922 |
| Warburg Micro Syndrome 1 |
|
Optic atrophy, Developmental cataract, Microcornea, Microphthalmia, Failure to thrive |
OMIM:600118 |
| Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Cataract |
OMIM:614876 |
| Leber Congenital Amaurosis 16 |
|
Optic disc pallor, Cataract |
OMIM:614186 |
| Lissencephaly 8 |
|
Microphthalmia, Cataract, Optic atrophy |
OMIM:617255 |
| Wagr Syndrome |
|
Aplasia/Hypoplasia of the iris, Cataract, Obesity |
ORPHA:893 |
| WAGR 11p13 deletion syndrome |
|
Aniridia |
DECIPHER:35 |
| Blepharoptosis-Myopia-Ectopia Lentis Syndrome |
|
Abnormality of retinal pigmentation, Iris coloboma, Ectopia lentis |
ORPHA:1259 |
| Intestinal Dysmotility Syndrome |
|
Failure to thrive, Cataract, Weight loss |
OMIM:620045 |
| Cataract-Aberrant Oral Frenula-Growth Delay Syndrome |
|
Cataract |
ORPHA:1373 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Microphthalmia, Retinal dystrophy, Developmental cataract |
OMIM:613155 |
| Juvenile Glaucoma |
|
Optic neuropathy, Abnormality iris morphology, Retinal arterial occlusion, Retinal vein occlusion... |
ORPHA:98977 |
| Galactose Epimerase Deficiency |
|
Cataract, Weight loss |
ORPHA:79238 |
| Axenfeld-Rieger Syndrome, Type 1 |
|
Rieger anomaly, Polycoria, Microcornea, Hypoplasia of the iris, Ectopia pupillae, Aniridia, Megal... |
OMIM:180500 |
| Nance-Horan Syndrome |
|
Microcornea, Microphthalmia, Posterior Y-sutural cataract, Developmental cataract |
OMIM:302350 |
| Congenital Rubella Syndrome |
|
Abnormality of retinal pigmentation, Cataract, Corneal opacity, Aplasia/Hypoplasia of the iris, M... |
ORPHA:290 |
| Corneal Dystrophy, Fuchs Endothelial, 6 |
|
Corneal dystrophy, Keratitis, Abnormal Descemet membrane morphology, Corneal stromal edema, Corne... |
OMIM:613270 |
| Corneal Dystrophy, Fuchs Endothelial, 2 |
|
Corneal degeneration, Corneal dystrophy, Corneal guttata |
OMIM:610158 |
| Corneal Dystrophy, Meesmann, 1 |
|
Punctate opacification of the cornea, Corneal dystrophy |
OMIM:122100 |
| Renal Dysplasia |
|
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... |
ORPHA:93108 |
| Leber Congenital Amaurosis |
|
Keratoconus, Abnormality of retinal pigmentation, Abnormal optic disc morphology, Cataract |
ORPHA:65 |
| Congenital Disorder Of Glycosylation, Type Iq |
|
Cataract, Optic atrophy, Coloboma, Microphthalmia, Failure to thrive |
OMIM:612379 |
| Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Microphthalmia, Cataract, Failure to thrive in infancy |
OMIM:618805 |
| Cerebrooculofacioskeletal Syndrome 2 |
|
Microphthalmia, Cataract, Small for gestational age, Developmental cataract |
OMIM:610756 |
| Microphthalmia, Syndromic 8 |
|
Microcornea, Microphthalmia |
OMIM:601349 |
| Cataract 16, Multiple Types |
|
Posterior polar cataract, Lenticonus, Developmental cataract |
OMIM:613763 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 17 |
|
Anisocoria |
OMIM:300858 |
| Retinitis Pigmentosa |
|
Keratoconus, Abnormality of retinal pigmentation, Cataract, Abnormal retinal vascular morphology,... |
ORPHA:791 |
| Osteoporosis-Pseudoglioma Syndrome |
|
Retinal detachment, Corneal opacity, Abnormal vitreous humor morphology, Exudative retinopathy, E... |
ORPHA:2788 |
| Retinitis Pigmentosa 74 |
|
Optic disc pallor, Obesity, Pigmentary retinopathy, Posterior polar cataract, Rod-cone dystrophy |
OMIM:616562 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Splenomegaly, Hepatomegaly, Enlarged kidney |
OMIM:615285 |
| Supernumerary Nostril |
|
Microcornea, Developmental cataract |
ORPHA:141096 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Cataract, Abnormally large globe, Coloboma, Microphthalmia, Retinal degeneration |
OMIM:615249 |
| 3-Methylglutaconic Aciduria Type 4 |
|
Failure to thrive, Cataract, Iris hypopigmentation |
ORPHA:67048 |
| Bardet-Biedl Syndrome 21 |
|
Hypoplasia of the fovea, Cone/cone-rod dystrophy, Retinal atrophy, Retinal thinning, Overweight, ... |
OMIM:617406 |
| X-Linked Immunoneurologic Disorder |
|
Cataract |
ORPHA:2571 |
| Linear Verrucous Nevus Syndrome |
|
Cataract, Abnormal cornea morphology, Retinopathy, Iris coloboma, Aplasia/Hypoplasia of the fovea |
ORPHA:2611 |
| Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Microcornea, Microphthalmia, Cataract |
ORPHA:48431 |
| Retinitis Pigmentosa 77 |
|
Bone spicule pigmentation of the retina, Retinal atrophy, Posterior subcapsular cataract, Rod-con... |
OMIM:617304 |
| Bardet-Biedl Syndrome 5 |
|
Macular dystrophy, Rod-cone dystrophy, Obesity |
OMIM:615983 |
| Chromosome Xq21 Deletion Syndrome |
|
Choroideremia, Chorioretinal atrophy, Obesity, Chorioretinal degeneration |
OMIM:303110 |
| Aa Amyloidosis |
|
Hepatomegaly, Proteinuria, Abnormality of the kidney, Chronic kidney disease, Nephrotic syndrome,... |
ORPHA:85445 |
| Corneal Dystrophy, Fuchs Endothelial, 3 |
|
Corneal stromal edema, Corneal opacity, Corneal guttata |
OMIM:613267 |
| Galactose Mutarotase Deficiency |
|
Failure to thrive, Cataract |
ORPHA:570422 |
| Weill-Marchesani Syndrome 4 |
|
Iridodonesis, Ectopia lentis, Shallow anterior chamber, Posterior synechiae of the anterior chamb... |
OMIM:613195 |
| Retinitis Pigmentosa 83 |
|
Bone spicule pigmentation of the retina, Vitreous floaters, Posterior subcapsular cataract, Aster... |
OMIM:618173 |
| Stomatin-Deficient Cryohydrocytosis With Neurologic Defects |
|
Nuclear cataract, Cataract |
OMIM:608885 |
| Aniridia-Absent Patella Syndrome |
|
Aniridia, Cataract |
ORPHA:1069 |
| Obesity |
|
Increased waist to hip ratio, Obesity |
OMIM:601665 |
| Cardiomyopathy, Dilated, 1Ii |
|
Cataract |
OMIM:615184 |
| Joubert Syndrome 22 |
|
Microphthalmia, Coloboma |
OMIM:615665 |
| Congenital Anomalies Of Kidney And Urinary Tract 3 |
|
Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr... |
OMIM:618270 |
| Gyrate Atrophy Of Choroid And Retina |
|
Cataract, Chorioretinal degeneration, Chorioretinal hyperpigmentation, Chorioretinal atrophy, Sub... |
ORPHA:414 |
| Mevalonic Aciduria |
|
Nuclear cataract, Cataract |
OMIM:610377 |
| Developmental Delay With Variable Neurologic And Brain Abnormalities |
|
Microphthalmia, Astigmatism, Cataract |
OMIM:619694 |
| Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Retinal detachment, Cataract, Optic nerve hypoplasia, Optic atrophy, Abnormality iris morphology,... |
ORPHA:370959 |
| Rhizomelic Chondrodysplasia Punctata, Type 2 |
|
Cataract, Zonular cataract, Optic nerve hypoplasia |
OMIM:222765 |
| Humero-Radial Synostosis |
|
Aplasia/Hypoplasia affecting the eye, Iris coloboma, Chorioretinal coloboma |
ORPHA:3265 |
| Usher Syndrome Type 3 |
|
Cataract, Astigmatism, Iris hypopigmentation |
ORPHA:231183 |
| Walker-Warburg Syndrome |
|
Retinal detachment, Cataract, Corneal opacity, Chorioretinal dysplasia, Anophthalmia, Retinal dys... |
ORPHA:899 |
| Norrie Disease |
|
Retinal detachment, Aplasia/Hypoplasia of the lens, Corneal opacity, Cataract, Sclerocornea, Ecto... |
ORPHA:649 |
| Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Cataract |
ORPHA:1875 |
| Senior-Loken Syndrome |
|
Abnormality of retinal pigmentation, Cataract, Retinal dystrophy |
ORPHA:3156 |
| Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome |
|
Retinal coloboma, Iris coloboma, Chorioretinal coloboma |
ORPHA:2921 |
| 3Q29 Microduplication Syndrome |
|
Cataract, Sclerocornea, Obesity, Aniridia, Microphthalmia, Iris coloboma |
ORPHA:251038 |
| Retinitis Pigmentosa 46 |
|
Optic disc pallor, Posterior subcapsular cataract, Pigmentary retinopathy, Rod-cone dystrophy, At... |
OMIM:612572 |
| Laurence-Moon Syndrome |
|
Cataract, Iris coloboma, Obesity |
ORPHA:2377 |
| Cerebrooculofacioskeletal Syndrome 3 |
|
Microphthalmia |
OMIM:616570 |
| Retinitis Pigmentosa 10 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Geographic at... |
OMIM:180105 |
| Peroxisome Biogenesis Disorder 11B |
|
Cataract |
OMIM:614885 |
| Temtamy Syndrome |
|
Ectopia lentis, Lens luxation, Chorioretinal coloboma, Microphthalmia, Iris coloboma |
OMIM:218340 |
| Martsolf Syndrome 2 |
|
Decreased body weight, Cataract, Developmental cataract |
OMIM:619420 |
| Bartsocas-Papas Syndrome 2 |
|
Corneal opacity, Antecubital pterygium, Popliteal pterygium, Microphthalmia, Axillary pterygium |
OMIM:619339 |
| Corneal Dystrophy, Fuchs Endothelial, 4 |
|
Corneal dystrophy, Corneal guttata |
OMIM:613268 |
| Corneal Endothelial Dystrophy |
|
Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat... |
OMIM:217700 |
| Hydrocephalus, Endocardial Fibroelastosis, And Cataracts |
|
Developmental cataract |
OMIM:600559 |
| Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness |
|
Cataract, Retinal thinning, Asteroid hyalosis |
OMIM:132450 |
| Rodrigues Blindness |
|
Microcornea, Microphthalmia, Sclerocornea |
OMIM:268320 |
| Mmep Syndrome |
|
Microphthalmia |
ORPHA:3434 |
| Oculogastrointestinal Neurodevelopmental Syndrome |
|
Coloboma, Bilateral microphthalmos, Unilateral microphthalmos |
OMIM:619318 |
| Corneal Dystrophy, Fuchs Endothelial, 8 |
|
Corneal dystrophy, Corneal guttata |
OMIM:615523 |
| Fryns Microphthalmia Syndrome |
|
Microphthalmia, Anophthalmia |
OMIM:600776 |
| Maternally-Inherited Diabetes And Deafness |
|
Retinopathy, Macular dystrophy, Cataract, Abnormal chorioretinal morphology |
ORPHA:225 |
| Idiopathic Panuveitis |
|
Cataract, Choroidal neovascularization, Vitreous haze, Vitreous floaters, Epiretinal membrane, Vi... |
ORPHA:280921 |
| Microtia-Eye Coloboma-Imperforation Of The Nasolacrimal Duct Syndrome |
|
Iris coloboma |
ORPHA:139450 |
| Frontofacionasal Dysplasia |
|
Cataract, Brushfield spots, Microcornea, Limbal dermoid, Microphthalmia, Iris coloboma |
ORPHA:1791 |
| Autosomal Recessive Stickler Syndrome |
|
Retinal detachment, Vitreoretinopathy, Cataract, Astigmatism |
ORPHA:250984 |
| Herpes Simplex Virus Stromal Keratitis |
|
Keratitis, Deep anterior chamber, Herpetiform corneal ulceration, Corneal stromal edema, Corneal ... |
ORPHA:137599 |
| Aniridia, Partial, With Unilateral Renal Agenesis And Psychomotor Retardation |
|
Aniridia, Developmental glaucoma |
OMIM:206750 |
| Oculodentodigital Dysplasia, Autosomal Recessive |
|
Cataract, Microcornea, Persistent pupillary membrane, Microphthalmia, Failure to thrive |
OMIM:257850 |
| Kapur-Toriello Syndrome |
|
Microphthalmia, Failure to thrive, Retinal coloboma, Iris coloboma |
ORPHA:2328 |
| Familial Dysautonomia |
|
Corneal opacity, Abnormal pupil morphology, Corneal erosion, Optic atrophy, Heterochromia iridis |
ORPHA:1764 |
| X-Linked Intellectual Disability, Najm Type |
|
Cataract, Optic nerve hypoplasia, Optic atrophy, Chorioretinal coloboma, Failure to thrive |
ORPHA:163937 |
| Intellectual Developmental Disorder, Autosomal Recessive 67 |
|
Coloboma |
OMIM:618295 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Microphthalmia, Retinal dysplasia |
OMIM:614830 |
| Nephronophthisis 11 |
|
Anisocoria, Retinal degeneration |
OMIM:613550 |
| Enhanced S-Cone Syndrome |
|
Cataract, Macular edema, Pigmentary retinopathy, Vitreoretinopathy, Retinoschisis |
OMIM:268100 |
| Knobloch Syndrome 1 |
|
Attenuation of retinal blood vessels, Retinal detachment, Optic disc pallor, Band keratopathy, Ph... |
OMIM:267750 |
| Pierpont Syndrome |
|
Microcornea, Microphthalmia, Small for gestational age |
ORPHA:487825 |
| Corneal Dystrophy, Reis-Bucklers Type |
|
Corneal erosion, Corneal opacity, Corneal dystrophy, Opacification of the corneal stroma |
OMIM:608470 |
| Ectodermal Dysplasia-Blindness Syndrome |
|
Cataract, Corneal dystrophy, Sclerocornea, Microcornea, Keratoconjunctivitis sicca, Microphthalmia |
ORPHA:1806 |
| Duane Retraction Syndrome |
|
Central heterochromia, Optic disc hypoplasia, Abnormal pupil morphology, Microcornea, Hypoplastic... |
ORPHA:233 |
| Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Microphthalmia, Lens coloboma |
OMIM:618914 |
| Neurooculocardiogenitourinary Syndrome |
|
Microphthalmia, Coloboma, Peters anomaly |
OMIM:618652 |
| Severe Early-Childhood-Onset Retinal Dystrophy |
|
Retinal detachment, Bone spicule pigmentation of the retina, Rhegmatogenous retinal detachment, A... |
ORPHA:364055 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Cataract, Buphthalmos, Persistent pupillary membrane, Peters anomaly, Microphthalmia |
OMIM:613150 |
| Triglyceride Storage Disease, Type Ii |
|
Obesity |
OMIM:190430 |
| Retinitis Pigmentosa 25 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Chori... |
OMIM:602772 |
| Kniest Dysplasia |
|
Cataract, Aplasia/Hypoplasia of the lens, Lens luxation |
ORPHA:485 |
| Trisomy 9P |
|
Abnormal pupil morphology |
ORPHA:236 |
| Distal Deletion 6P |
|
Posterior embryotoxon, Corneal opacity, Hypoplasia of the iris, Anterior synechiae of the anterio... |
ORPHA:96125 |
| Reese Retinal Dysplasia |
|
Remnants of the hyaloid vascular system, Retinal dysplasia |
OMIM:266400 |
| Anterior Segment Dysgenesis 6 |
|
Corneal opacity, Abnormal Descemet membrane morphology, Developmental glaucoma, Posterior synechi... |
OMIM:617315 |
| Impaired Intellectual Development, Obesity, Mandibular Prognathism, And Eye And Skin Anomalies |
|
Obesity, Hyperopic astigmatism |
OMIM:606772 |
| Achromatopsia 3 |
|
Cataract |
OMIM:262300 |
| Alagille Syndrome |
|
Keratoconus, Abnormal pupil morphology, Failure to thrive, Corneal dystrophy |
ORPHA:52 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14 |
|
Cataract |
OMIM:615352 |
| Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Microphthalmia, Cataract |
ORPHA:93267 |
| Corneal Dystrophy, Thiel-Behnke Type |
|
Corneal dystrophy, Corneal scarring, Juvenile epithelial corneal dystrophy |
OMIM:602082 |
| Autosomal Dominant Polycystic Kidney Disease |
|
Renal insufficiency, Recurrent urinary tract infections, Chronic kidney disease, Elevated circula... |
ORPHA:730 |
| Adams-Oliver Syndrome 4 |
|
Microphthalmia |
OMIM:615297 |
| Primary Non-Essential Cutis Verticis Gyrata |
|
Abnormality of pattern visual evoked potentials, Developmental cataract |
ORPHA:357225 |
| Frontonasal Dysplasia 1 |
|
Microphthalmia, Cataract, Coloboma |
OMIM:136760 |
| Pierpont Syndrome |
|
Microcornea, Microphthalmia, Failure to thrive, Decreased body weight |
OMIM:602342 |
| Curry-Jones Syndrome |
|
Microphthalmia, Optic disc coloboma, Iris coloboma |
ORPHA:1553 |
| Dermatitis, Atopic |
|
Keratoconus, Cataract, Conjunctivitis |
OMIM:603165 |
| Cataracts, Spastic Paraparesis, And Speech Delay |
|
Cataract |
OMIM:619338 |
| Intellectual Developmental Disorder And Retinitis Pigmentosa |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Macul... |
OMIM:618195 |
| Arthrogryposis And Ectodermal Dysplasia |
|
Nuclear cataract |
OMIM:601701 |
| Alpha-Methylacyl-Coa Racemase Deficiency |
|
Rod-cone dystrophy, Cataract, Pigmentary retinopathy |
OMIM:614307 |
| Prader-Willi Syndrome Due To Imprinting Mutation |
|
Obesity, Iris hypopigmentation |
ORPHA:177910 |
| Baralle-Macken Syndrome |
|
Cataract, Obesity |
OMIM:619255 |
| Meckel Syndrome, Type 8 |
|
Enlarged kidney, Polycystic kidney dysplasia, Hyperechogenic kidneys |
OMIM:613885 |
| Paternal Uniparental Disomy Of Chromosome 1 |
|
Membranoproliferative glomerulonephritis, Proteinuria, Hypercalcemia, Macroscopic hematuria, Abno... |
ORPHA:251004 |
| Intellectual Disability-Alacrima-Achalasia Syndrome |
|
Anisocoria |
ORPHA:289483 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Microphthalmia, Retinal dysplasia |
OMIM:615771 |
| Oculofaciocardiodental Syndrome |
|
Retinal detachment, Cataract, Ectopia lentis, Microcornea, Microphthalmia, Iris coloboma |
ORPHA:2712 |
| Nasopalpebral Lipoma-Coloboma Syndrome |
|
Cataract, Corneal opacity, Bilateral microphthalmos, Coloboma, Microphthalmia, Conjunctival hyper... |
ORPHA:2399 |
| Vernal Keratoconjunctivitis |
|
Corneal neovascularization, Abnormal cornea morphology, Abnormal conjunctiva morphology, Punctate... |
ORPHA:70476 |
| Congenital Hereditary Endothelial Dystrophy Type Ii |
|
Increased corneal thickness, Corneal opacity, Abnormal Descemet membrane morphology, Irregular as... |
ORPHA:293603 |
| Granular Corneal Dystrophy Type I |
|
Subepithelial corneal opacities, Abnormal corneal epithelium morphology, Central opacification of... |
ORPHA:98962 |
| Abruzzo-Erickson Syndrome |
|
Coloboma |
OMIM:302905 |
| Epithelial Recurrent Erosion Dystrophy |
|
Subepithelial corneal opacities, Corneal dystrophy, Irregular astigmatism, Corneal scarring, Kera... |
ORPHA:293381 |
| Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Corneal opacity, Retinal arteriolar tortuosity, Polycoria, Retinal hemorrhage, Developmental cata... |
OMIM:175780 |
| Tetraamelia-Multiple Malformations Syndrome |
|
Septo-optic dysplasia, Cataract, Optic atrophy, Microcornea, Microphthalmia, Iris coloboma |
ORPHA:3301 |
| Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Microphthalmia, Anophthalmia, Iris coloboma, Sclerocornea |
ORPHA:77298 |
| Granular Corneal Dystrophy Type Ii |
|
Subepithelial corneal opacities, Central opacification of the cornea, Recurrent corneal erosions,... |
ORPHA:98963 |
| Bardet-Biedl Syndrome 22 |
|
Rod-cone dystrophy, Macular hypopigmentation, Obesity, Large for gestational age |
OMIM:617119 |
| Alg2-Cdg |
|
Cataract, Iris coloboma |
ORPHA:79326 |
| Craniotelencephalic Dysplasia |
|
Microphthalmia, Optic nerve hypoplasia |
OMIM:218670 |
| Revesz Syndrome |
|
Exudative retinopathy, Megalocornea, Leukocoria |
OMIM:268130 |
| Stickler Syndrome, Type Ii |
|
Retinal detachment, Cataract, Abnormal vitreous humor morphology |
OMIM:604841 |
| Joubert Syndrome 9 |
|
Cataract, Retinal dystrophy, Astigmatism |
OMIM:612285 |
| Retinitis Pigmentosa 43 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Pigme... |
OMIM:613810 |
| Congenital Fibrosis Of Extraocular Muscles |
|
Anisocoria, Abnormal pupil shape, Optic nerve hypoplasia, Cataract |
ORPHA:45358 |
| Usher Syndrome Type 1 |
|
Cataract, Iris hypopigmentation |
ORPHA:231169 |
| Retinoblastoma |
|
Vitritis, Leukocoria, Retinal calcification, Vitreous hemorrhage, Retinoblastoma |
OMIM:180200 |
| Genetic Hyperferritinemia Without Iron Overload |
|
Cataract |
ORPHA:254704 |
| Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Abnormality of retinal pigmentation, Cataract, Obesity |
ORPHA:3085 |
| Rutherfurd Syndrome |
|
Corneal dystrophy, Opacification of the corneal stroma |
OMIM:180900 |
| Solitary Median Maxillary Central Incisor |
|
Microphthalmia, Cyclopia, Anophthalmia, Coloboma |
OMIM:147250 |
| Limbal Stem Cell Deficiency |
|
Opacification of the corneal epithelium, Generalized opacification of the cornea, Keratitis, Corn... |
ORPHA:171673 |
| Stromme Syndrome |
|
Cataract, Optic nerve hypoplasia, Sclerocornea, Microcornea, Peters anomaly, Retinal vascular tor... |
OMIM:243605 |
| Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Nephroblastoma, Enlarged kidney |
OMIM:618272 |
| Baraitser-Winter Syndrome 2 |
|
Microphthalmia, Coloboma |
OMIM:614583 |
| Stickler Syndrome Type 1 |
|
Retinal detachment, Cataract, Abnormal vitreous humor morphology |
ORPHA:90653 |
| Rere-Related Neurodevelopmental Syndrome |
|
Optic atrophy, Astigmatism, Chorioretinal coloboma, Peters anomaly, Microphthalmia, Iris coloboma |
ORPHA:494344 |
| Intestinal Botulism |
|
Mydriasis |
ORPHA:178481 |
| Bresek Syndrome |
|
Optic nerve hypoplasia, Microphthalmia, Iris coloboma |
ORPHA:85284 |
| Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia |
|
Cataract |
ORPHA:1366 |
| Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Renal insufficiency, Absence of renal corticomedullary differentiation, Splenomegal... |
OMIM:263200 |
| Microphthalmia, Syndromic 12 |
|
Microphthalmia, Anophthalmia |
OMIM:615524 |
| Stiff Skin Syndrome |
|
Cataract |
OMIM:184900 |
| Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Enlarged polycystic ovaries, Enlarged kidney |
ORPHA:90301 |
| Toxin-Mediated Infectious Botulism |
|
Mydriasis |
ORPHA:230800 |
| Trisomy 13 |
|
Cataract, Anophthalmia, Abnormal retinal vascular morphology, Optic atrophy, Aplasia/Hypoplasia o... |
ORPHA:3378 |
| Srd5A3-Cdg |
|
Cataract, Optic disc hypoplasia, Optic atrophy, Coloboma, Rod-cone dystrophy |
ORPHA:324737 |
| Fanconi Anemia, Complementation Group J |
|
Microphthalmia |
OMIM:609054 |
| Fanconi Anemia, Complementation Group G |
|
Microphthalmia |
OMIM:614082 |
| Nasopalpebral Lipoma-Coloboma Syndrome |
|
Microphthalmia, Conjunctival hyperemia, Coloboma |
OMIM:167730 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Renal dysplasia, Ureteral duplication, Hepatomegaly, Renal insufficiency, Elevated circulating cr... |
OMIM:608836 |
| Cardiomyopathy-Cataract-Hip Spine Disease Syndrome |
|
Cataract |
ORPHA:1345 |
| Weill-Marchesani Syndrome |
|
Cataract, Ectopia lentis |
ORPHA:3449 |
| Hypergonadotropic Hypogonadism-Cataract Syndrome |
|
Cataract |
ORPHA:2410 |
| Infantile Spasms-Broad Thumbs Syndrome |
|
Optic disc pallor, Cataract |
ORPHA:3173 |
| Laurence-Moon Syndrome |
|
Pigmentary retinopathy, Chorioretinal atrophy, Obesity |
OMIM:245800 |
| Pseudopseudohypoparathyroidism |
|
Cataract, Obesity |
OMIM:612463 |
| Craniotelencephalic Dysplasia |
|
Microphthalmia, Septo-optic dysplasia |
ORPHA:1528 |
| Retinitis Pigmentosa 60 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P... |
OMIM:613983 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4 |
|
Mydriasis |
OMIM:619365 |
| Achondrogenesis Type 2 |
|
Retinal detachment, Cataract, Lens subluxation, Abnormal vitreous humor morphology |
ORPHA:93296 |
| Generalized Eruptive Keratoacanthoma |
|
Abnormal cornea morphology, Keratoconjunctivitis sicca, Conjunctivitis |
ORPHA:411777 |
| Achalasia-Addisonianism-Alacrima Syndrome |
|
Anisocoria, Optic atrophy |
OMIM:231550 |
| Xeroderma Pigmentosum, Complementation Group D |
|
Cataract, Keratitis, Keratoconjunctivitis sicca, Conjunctivitis, Microphthalmia, Corneal neovascu... |
OMIM:278730 |
| Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract |
|
Rod-cone dystrophy, Subcapsular cataract, Optic atrophy, Cataract |
OMIM:612674 |
| Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Microphthalmia, Cataract, Retinal pigment epithelial mottling |
OMIM:614105 |
| Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome |
|
Aniridia, Obesity |
OMIM:194072 |
| Papillorenal Syndrome |
|
Retinal detachment, Cataract, Morning glory anomaly, Lens luxation, Macular hyperpigmentation, Op... |
OMIM:120330 |
| Glycogen Storage Disease Ia |
|
Hepatomegaly, Proteinuria, Hyperlipidemia, Nephrolithiasis, Focal segmental glomerulosclerosis, H... |
OMIM:232200 |
| Abruzzo-Erickson Syndrome |
|
Microcornea, Coloboma, Iris coloboma, Chorioretinal coloboma |
ORPHA:921 |
| Micro Syndrome |
|
Abnormality of retinal pigmentation, Cataract, Optic atrophy, Microcornea, Retinal coloboma, Micr... |
ORPHA:2510 |
| 3-Methylglutaconic Aciduria, Type Viib |
|
Cataract, Zonular cataract |
OMIM:616271 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Buphthalmos, Microphthalmia, Cataract, Retinal dystrophy |
OMIM:616538 |
| Bardet-Biedl Syndrome 4 |
|
Rod-cone dystrophy, Obesity, Retinal degeneration |
OMIM:615982 |
| Retinoblastoma |
|
Abnormality of retinal pigmentation, Subretinal pigment epithelium hemorrhage, Leukocoria, Uveiti... |
ORPHA:790 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Hepatomegaly, Proteinuria, Splenomegaly, Optic atrophy, Nephrotic syndrome, Chorioretinal hypopig... |
OMIM:617303 |
| Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia |
|
Nuclear cataract |
ORPHA:1010 |
| Cryptophthalmos, Unilateral Or Bilateral, Isolated |
|
Microphthalmia |
OMIM:123570 |
| Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Retinal detachment, Microphthalmia, Cataract, Hypopigmentation of the fundus |
ORPHA:163649 |
| Warburg Micro Syndrome 3 |
|
Cataract, Optic atrophy, Developmental cataract, Microcornea, Shallow anterior chamber, Microphth... |
OMIM:614222 |
| Fuchs Endothelial Corneal Dystrophy |
|
Abnormal corneal endothelium morphology, Reduced number of corneal endothelial cells, Abnormal De... |
ORPHA:98974 |
| Intellectual Developmental Disorder, Autosomal Dominant 70 |
|
Retinal detachment, Cataract, Optic nerve hypoplasia, Retinal telangiectasia, Overgrowth, Failure... |
OMIM:620157 |
| Kapur-Toriello Syndrome |
|
Microphthalmia, Cataract, Retinal coloboma, Iris coloboma |
OMIM:244300 |
| Warburg Micro Syndrome 2 |
|
Cataract, Optic atrophy, Developmental cataract, Microcornea, Microphthalmia |
OMIM:614225 |
| Refsum Disease |
|
Retinopathy, Microphthalmia, Cataract, Abnormality of retinal pigmentation |
ORPHA:773 |
| Trichinellosis |
|
Central retinal artery occlusion, Retinal hemorrhage, Anisocoria, Conjunctivitis, Abnormal uvea m... |
ORPHA:863 |
| Miller Fisher Syndrome |
|
Anisocoria, Mydriasis |
ORPHA:98919 |
| Phace Syndrome |
|
Cataract, Optic nerve hypoplasia, Sclerocornea, Lens coloboma, Microphthalmia, Heterochromia irid... |
ORPHA:42775 |
| Baraitser-Winter Syndrome 1 |
|
Microphthalmia, Failure to thrive, Iris coloboma, Chorioretinal coloboma |
OMIM:243310 |
| Adams-Oliver Syndrome 2 |
|
Microphthalmia, Optic atrophy, Developmental cataract |
OMIM:614219 |
| Brittle Cornea Syndrome 2 |
|
Keratoconus, Flat cornea, Sclerocornea, Keratoglobus, Decreased corneal thickness, Corneal perfor... |
OMIM:614170 |
| Xk Aprosencephaly Syndrome |
|
Microphthalmia |
ORPHA:3469 |
| Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies |
|
Microphthalmia, Astigmatism, Retinal coloboma, Cataract |
OMIM:618571 |
| Brittle Cornea Syndrome 1 |
|
Keratoconus, Keratoglobus, Abnormal cornea morphology, Disproportionate tall stature, Decreased c... |
OMIM:229200 |
| Gracile Bone Dysplasia |
|
Aniridia, Microphthalmia, Failure to thrive |
OMIM:602361 |
| Schwannomatosis, Vestibular |
|
Juvenile posterior subcapsular lenticular opacities, Cortical cataract |
OMIM:101000 |
| Glycogen Storage Disease Ib |
|
Hepatomegaly, Proteinuria, Splenomegaly, Hyperlipidemia, Nephrolithiasis, Focal segmental glomeru... |
OMIM:232220 |
| Hereditary Leiomyomatosis And Renal Cell Cancer |
|
Cataract |
ORPHA:523 |
| Nephronophthisis 15 |
|
Obesity, Retinal degeneration |
OMIM:614845 |
| Microphthalmia, Lenz Type |
|
Cataract, Optic disc coloboma, Microcornea, Chorioretinal coloboma, Microphthalmia, Iris coloboma |
ORPHA:568 |
| Coloboma Of Optic Nerve |
|
Retinal detachment, Optic disc coloboma |
OMIM:120430 |
| Chromosome Xp11.3 Deletion Syndrome |
|
Cataract, Posterior subcapsular cataract, Optic atrophy, Pigmentary retinopathy, Rod-cone dystrop... |
OMIM:300578 |
| 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 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Retinal detachment, Cataract, Corneal opacity, Optic nerve hypoplasia, Retinal atrophy, Optic atr... |
OMIM:236670 |
| Microphthalmia, Syndromic 11 |
|
Microphthalmia |
OMIM:614402 |
| Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Truncal obesity, Obesity, Large for gestational age |
OMIM:240900 |
| Autosomal Recessive Ataxia Due To Pex10 Deficiency |
|
Mydriasis |
ORPHA:247815 |
| Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome |
|
Obesity, Hyperopic astigmatism |
ORPHA:397973 |
| Iatrogenic Botulism |
|
Mydriasis |
ORPHA:254509 |
| Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Obesity, Iris hypopigmentation |
ORPHA:411515 |
| Cerebrooculofacioskeletal Syndrome 1 |
|
Microphthalmia, Failure to thrive, Cataract, Small for gestational age |
OMIM:214150 |
| Wound Botulism |
|
Mydriasis |
ORPHA:178475 |
| Xeroderma Pigmentosum, Complementation Group B |
|
Microphthalmia, Cataract, Optic atrophy, Pigmentary retinopathy |
OMIM:610651 |
| Leukodystrophy, Hypomyelinating, 24 |
|
Cataract |
OMIM:619851 |
| Chromosome 17Q12 Duplication Syndrome |
|
Microphthalmia, Peters anomaly |
OMIM:614526 |
| Congenital Toxoplasmosis |
|
Microphthalmia, Failure to thrive in infancy, Abnormality of retinal pigmentation |
ORPHA:858 |
| Warburg Micro Syndrome 4 |
|
Microcornea, Microphthalmia, Optic atrophy, Developmental cataract |
OMIM:615663 |
| Trichothiodystrophy 3, Photosensitive |
|
Microphthalmia, Failure to thrive, Cataract, Developmental cataract |
OMIM:616395 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Re... |
OMIM:614643 |
| Aortic Aneurysm, Familial Thoracic 6 |
|
Iris flocculi |
OMIM:611788 |
| Charcot-Marie-Tooth Disease Type 1E |
|
Anisocoria, Abnormal pupil morphology |
ORPHA:90658 |
| Sandestig-Stefanova Syndrome |
|
Microphthalmia, Small for gestational age, Developmental cataract |
OMIM:618804 |
| Infantile Refsum Disease |
|
Rod-cone dystrophy, Failure to thrive, Cataract, Optic atrophy |
ORPHA:772 |
| Retinitis Pigmentosa 51 |
|
Bone spicule pigmentation of the retina, Obesity, Macular degeneration, Rod-cone dystrophy, Atten... |
OMIM:613464 |
| Monilethrix |
|
Cataract |
ORPHA:573 |
| Sympathetic Ophthalmia |
|
Papilledema, Retinal detachment, Cataract, Vitreous floaters, Vitritis, Retinal hemorrhage, Macul... |
ORPHA:79098 |
| Vogt-Koyanagi-Harada Disease |
|
Retinal detachment, Cataract |
ORPHA:3437 |
| Hereditary Cryohydrocytosis With Reduced Stomatin |
|
Cataract, Zonular cataract |
ORPHA:168577 |
| Weill-Marchesani Syndrome 1 |
|
Shallow anterior chamber, Microspherophakia, Ectopia lentis, Cataract |
OMIM:277600 |
| Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development |
|
Cataract, Band keratopathy |
OMIM:604278 |
| Peroxisome Biogenesis Disorder 10B |
|
Cataract |
OMIM:617370 |
| Inhalational Botulism |
|
Mydriasis |
ORPHA:254504 |
| Neurotrophic Keratopathy |
|
Anterior uveitis, Corneal scarring, Corneal stromal edema, Astigmatism, Recurrent corneal erosion... |
ORPHA:137596 |
| Bardet-Biedl Syndrome 2 |
|
Rod-cone dystrophy, Obesity, Retinal degeneration |
OMIM:615981 |
| Posterior Column Ataxia With Retinitis Pigmentosa |
|
Bone spicule pigmentation of the retina, Cataract, Optic atrophy, Pigmentary retinopathy, Rod-con... |
OMIM:609033 |
| Kenny-Caffey Syndrome, Type 2 |
|
Papilledema, Small for gestational age, Developmental cataract, Retinal calcification, Microphtha... |
OMIM:127000 |
| Rothmund-Thomson Syndrome, Type 2 |
|
Microcornea, Microphthalmia, Cataract, Zonular cataract |
OMIM:268400 |
| Mitochondrial Dna Depletion Syndrome 20 (Mngie Type) |
|
Macular degeneration, Cataract |
OMIM:619780 |
| Oligoarticular Juvenile Idiopathic Arthritis |
|
Cataract, Band keratopathy, Uveitis, Failure to thrive, Anterior chamber synechiae |
ORPHA:85410 |
| Charcot-Marie-Tooth Disease Type 4C |
|
Anisocoria, Optic atrophy, Failure to thrive, Abnormal optic nerve morphology |
ORPHA:99949 |
| Oculocerebrocutaneous Syndrome |
|
Microphthalmia, Anophthalmia |
OMIM:164180 |
| Peroxisome Biogenesis Disorder 9B |
|
Rod-cone dystrophy, Cataract |
OMIM:614879 |
| Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Optic atrophy, Rod-cone dys... |
OMIM:268315 |
| Histiocytoid Cardiomyopathy |
|
Microphthalmia, Megalocornea, Corneal opacity, Congenital aphakia |
ORPHA:137675 |
| Chondrodysplasia Punctata 1, X-Linked Recessive |
|
Cataract |
OMIM:302950 |
| Wagro Syndrome |
|
Aniridia, Cataract, Corneal opacity, Obesity |
OMIM:612469 |
| Congenital Fibrinogen Deficiency |
|
Microphthalmia, Developmental cataract |
ORPHA:335 |
| 8Q21.11 Microdeletion Syndrome |
|
Cataract, Corneal opacity, Sclerocornea, Microphthalmia, Iris hypopigmentation |
ORPHA:284160 |
| Trichothiodystrophy 4, Nonphotosensitive |
|
Microcornea, Microphthalmia, Keratoconjunctivitis sicca, Optic atrophy |
OMIM:234050 |
| Oculocutaneous Albinism Type 1 |
|
Abnormality of visual evoked potentials, Iris transillumination defect, Blue irides, Iris hypopig... |
ORPHA:352731 |
| Premature Aging Syndrome, Okamoto Type |
|
Cataract |
OMIM:601811 |
| Multiple Benign Circumferential Skin Creases On Limbs |
|
Microcornea, Microphthalmia, Retinopathy |
ORPHA:2505 |
| Stevenson-Carey Syndrome |
|
Microphthalmia, Coloboma |
OMIM:611961 |
| Autosomal Dominant Optic Atrophy And Cataract |
|
Anterior subcapsular cataract, Cataract, Posterior cortical cataract, Cerulean cataract, Anterior... |
ORPHA:67036 |
| Botulism |
|
Mydriasis |
ORPHA:1267 |
| Hypoparathyroidism, Familial Isolated, 1 |
|
Cataract |
OMIM:146200 |
| Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy |
|
Buphthalmos, Cataract, Retinal dystrophy |
ORPHA:370997 |
| Joubert Syndrome 23 |
|
Coloboma |
OMIM:616490 |
| Frontorhiny |
|
Microphthalmia, Cataract, Iris coloboma |
ORPHA:391474 |
| Phace Association |
|
Optic nerve hypoplasia, Optic atrophy, Developmental cataract, Increased retinal vascularity, Mic... |
OMIM:606519 |
| Tyrosinemia, Type I |
|
Hypertyrosinemia, Hepatomegaly, Renal insufficiency, Elevated circulating alpha-fetoprotein conce... |
OMIM:276700 |
| Ifap Syndrome 2 |
|
Keratitis, Keratoconjunctivitis sicca, Cataract |
OMIM:619016 |
| Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of |
|
Sutural cataract |
OMIM:201470 |
| Congenital Tufting Enteropathy |
|
Cataract, Corneal erosion, Optic disc coloboma, Weight loss, Punctate keratitis, Failure to thrive |
ORPHA:92050 |
| Otodental Dysplasia |
|
Coloboma |
OMIM:166750 |
| Foodborne Botulism |
|
Mydriasis |
ORPHA:228371 |
| Weill-Marchesani Syndrome 2 |
|
Iridodonesis, Cataract, Lens luxation, Ectopia lentis, Microspherophakia, Shallow anterior chambe... |
OMIM:608328 |
| Arrhinia-Choanal Atresia-Microphthalmia Syndrome |
|
Microphthalmia |
ORPHA:1135 |
| Alport Syndrome 2, Autosomal Recessive |
|
Corneal erosion, Cataract, Anterior lenticonus |
OMIM:203780 |
| Antiphospholipid Syndrome, Familial |
|
Retinal detachment, Keratitis, Vitritis, Central retinal artery occlusion, Retinal vasculitis, Ir... |
OMIM:107320 |
| Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Corneal erosion, Cataract |
OMIM:614878 |
| Steinfeld Syndrome |
|
Microphthalmia, Retinal coloboma, Iris coloboma |
OMIM:184705 |
| Rabin-Pappas Syndrome |
|
Retinal detachment, Cataract, Failure to thrive in infancy, Optic nerve hypoplasia, Retinal telan... |
OMIM:620155 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Cataract, Corneal opacity, Chorioretinal dysplasia, Abnormal pupil morphology, Buphthalmos, Lenti... |
ORPHA:534 |
| Diaphanospondylodysostosis |
|
Nephrogenic rest, Nephroblastomatosis, Horseshoe kidney, Cystic renal dysplasia, Enlarged kidney |
OMIM:608022 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Cataract, Retinal atrophy, Optic atrophy, Buphthalmos, Coloboma, Hypoplasia of the retina, Retina... |
OMIM:253280 |
| Fanconi Anemia, Complementation Group I |
|
Microphthalmia, Astigmatism, Optic nerve hypoplasia, Decreased body weight |
OMIM:609053 |
| Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive |
|
Cataract, Obesity |
OMIM:615418 |
| Acro-Renal-Ocular Syndrome |
|
Cataract, Optic disc hypoplasia, Optic disc coloboma, Microcornea, Coloboma, Chorioretinal colobo... |
ORPHA:959 |
| Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Anophthalmia, Microphthalmia, Cataract, Iris coloboma |
ORPHA:2250 |
| Infant Botulism |
|
Keratoconjunctivitis sicca, Mydriasis |
ORPHA:178478 |
| Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome |
|
Optic nerve hypoplasia, Large for gestational age, Overgrowth, Aplasia/Hypoplasia of the optic ne... |
ORPHA:137634 |
| Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Cataract, Sclerocornea, Pigmentary retinopathy, Peters anomaly, Microphthalmia, Iris coloboma |
OMIM:309801 |
| Deafness, X-Linked 7 |
|
Unilateral microphthalmos |
OMIM:301018 |
| Osteoporosis-Pseudoglioma Syndrome |
|
Iris atrophy, Cataract, Phthisis bulbi, Retinal calcification, Exudative retinopathy, Vitreoretin... |
OMIM:259770 |
| Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Microphthalmia, Overgrowth |
OMIM:602501 |
| Cohen Syndrome |
|
Abnormality of retinal pigmentation, Chorioretinal dystrophy, Failure to thrive in infancy, Optic... |
ORPHA:193 |
| Cutis Marmorata Telangiectatica Congenita |
|
Retinal detachment, Leukocoria |
ORPHA:1556 |
| Braddock-Carey Syndrome 2 |
|
Microphthalmia |
OMIM:619981 |
| Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Failure to thrive, Unilateral microphthalmos, Iris coloboma |
OMIM:618874 |
| Bardet-Biedl Syndrome 3 |
|
Pigmentary retinopathy, Rod-cone dystrophy, Obesity |
OMIM:600151 |
| Encephalocraniocutaneous Lipomatosis |
|
Hypoplasia of the iris, Limbal dermoid, Microphthalmia, Sclerocornea |
OMIM:613001 |
| Microphthalmia, Syndromic 3 |
|
Optic nerve aplasia, Anophthalmia, Cataract, Optic nerve hypoplasia, Sclerocornea, Coloboma, Micr... |
OMIM:206900 |
| Dystonia-Deafness Syndrome 1 |
|
Cataract, Small for gestational age |
OMIM:607371 |
| Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Hepatomegaly, Cystic renal dysplasia, Enlarged kidney |
OMIM:615415 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Retinal detachment, Cataract, Optic atrophy, Retinal dysplasia, Microphthalmia |
OMIM:253800 |
| Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Urethral atresia, Hydronephrosis, Enlarged kidney |
OMIM:314390 |
| Familial Isolated Hypoparathyroidism |
|
Cataract |
ORPHA:2238 |
| Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant |
|
Keratitis, Cataract, Conjunctivitis |
OMIM:612843 |
| Chromosome 8Q21.11 Deletion Syndrome |
|
Microphthalmia, Cataract, Pigmentary retinopathy, Sclerocornea |
OMIM:614230 |
| Bardet-Biedl Syndrome 8 |
|
Rod-cone dystrophy, Obesity |
OMIM:615985 |
| Carpenter Syndrome |
|
Abnormal cornea morphology, Obesity |
ORPHA:65759 |
| Alacrima, Achalasia, And Impaired Intellectual Development Syndrome |
|
Anisocoria |
OMIM:615510 |
| Hereditary Mucoepithelial Dysplasia |
|
Cataract, Corneal dystrophy |
ORPHA:1839 |
| Hartsfield Syndrome |
|
Microphthalmia |
ORPHA:2117 |
| Megalocornea-Intellectual Disability Syndrome |
|
Iridodonesis, Hypoplasia of the iris, Astigmatism, Megalocornea, Abnormal anterior chamber morpho... |
ORPHA:2479 |
| Joubert Syndrome 16 |
|
Coloboma |
OMIM:614465 |
| Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Microphthalmia |
ORPHA:2547 |
| Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Anisocoria, Obesity |
OMIM:618653 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Abnormality of retinal pigmentation, Proteinuria, Heparan sulfate excretion in urine, Optic atrop... |
ORPHA:505248 |
| Osteopetrosis, Autosomal Recessive 8 |
|
Failure to thrive, Optic atrophy, Unilateral microphthalmos |
OMIM:615085 |
| Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Microphthalmia, Optic disc pallor |
OMIM:300887 |
| Developmental And Epileptic Encephalopathy 1 |
|
Microphthalmia |
OMIM:308350 |
| Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Microphthalmia, Failure to thrive, Sclerocornea |
OMIM:300952 |
| Incontinentia Pigmenti |
|
Hypoplasia of the fovea, Retinal detachment, Cataract, Keratitis, Retinal vascular proliferation,... |
OMIM:308300 |
| Coenzyme Q10 Deficiency, Primary, 2 |
|
Overweight, Optic atrophy, Obesity |
OMIM:614651 |
| Donnai-Barrow Syndrome |
|
Retinal detachment, Cataract, Retinal dystrophy, Hypoplasia of the iris, Iris coloboma |
OMIM:222448 |
| Denys-Drash Syndrome |
|
Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome, Focal segmental ... |
OMIM:194080 |
| Multisystemic Smooth Muscle Dysfunction Syndrome |
|
Retinal infarction, Mydriasis |
OMIM:613834 |
| Frontofacionasal Dysplasia |
|
Microcornea, Microphthalmia, Cataract, Iris coloboma |
OMIM:229400 |
| Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome |
|
Microphthalmia, Ocular albinism |
ORPHA:1352 |
| Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
|
Abnormality of visual evoked potentials, Astigmatism |
OMIM:617523 |
| Frontonasal Dysplasia 3 |
|
Microphthalmia |
OMIM:613456 |
| Wilson Disease |
|
Kayser-Fleischer ring, Failure to thrive, Increased body weight, Weight loss |
ORPHA:905 |
| Body Mass Index Quantitative Trait Locus 20 |
|
Obesity, Tall stature |
OMIM:618406 |
| Pelvis-Shoulder Dysplasia |
|
Microcornea, Bilateral microphthalmos, Retinal coloboma, Iris coloboma |
ORPHA:2839 |
| Monosomy 9Q22.3 |
|
Cataract, Large for gestational age, Microphthalmia, Retinopathy, Tall stature |
ORPHA:77301 |
| Scalp-Ear-Nipple Syndrome |
|
Anisocoria, Cataract, Iris coloboma, Developmental cataract |
OMIM:181270 |
| Trisomy 18 |
|
Abnormality of retinal pigmentation, Cataract, Cachexia, Microcornea, Microphthalmia, Cyclopia, I... |
ORPHA:3380 |
| Craniolenticulosutural Dysplasia |
|
Punctate cataract, Posterior Y-sutural cataract |
OMIM:607812 |
| Trichothiodystrophy 1, Photosensitive |
|
Cataract, Small for gestational age, Microcornea, Keratoconjunctivitis sicca, Microphthalmia |
OMIM:601675 |
| Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Microphthalmia, Optic nerve hypoplasia, Decreased body weight |
OMIM:614833 |
| 1Q21.1 Microdeletion Syndrome |
|
Microphthalmia, Failure to thrive, Cataract, Iris coloboma |
ORPHA:250989 |
| Igg4-Related Kidney Disease |
|
Renal insufficiency, Proteinuria, Elevated circulating C-reactive protein concentration, Renal in... |
ORPHA:449395 |
| Jacobsen Syndrome |
|
Optic atrophy, Microcornea, Macular hypoplasia, Chorioretinal coloboma, Microphthalmia, Failure t... |
OMIM:147791 |
| Monosomy 13Q14 |
|
Microphthalmia, Cataract, Retinoblastoma, Iris coloboma |
ORPHA:1587 |
| Neuroocular Syndrome |
|
Hypoplasia of the fovea, Cataract, Remnants of the hyaloid vascular system, Brushfield spots, Len... |
OMIM:619539 |
| 17Q12 Microduplication Syndrome |
|
Microphthalmia |
ORPHA:261272 |
| Momo Syndrome |
|
Large for gestational age, Bilateral microphthalmos, Obesity, Overgrowth, Chorioretinal coloboma,... |
ORPHA:2563 |
| X-Linked Dominant Chondrodysplasia Punctata |
|
Microcornea, Microphthalmia, Cataract |
ORPHA:35173 |
| Coach Syndrome 2 |
|
Coloboma, Chorioretinal coloboma |
OMIM:619111 |
| 1Q41Q42 Microdeletion Syndrome |
|
Abnormality iris morphology |
ORPHA:250999 |
| Bardet-Biedl Syndrome 1 |
|
Bone spicule pigmentation of the retina, Cataract, Retinal dystrophy, Hyperautofluorescent macula... |
OMIM:209900 |
| Seckel Syndrome 2 |
|
Microphthalmia |
OMIM:606744 |
| Microphthalmia-Brain Atrophy Syndrome |
|
Bilateral microphthalmos |
ORPHA:77299 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Microcornea, Microphthalmia, Cataract |
OMIM:616449 |
| Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Hepatomegaly, Renal insufficiency, Splenomegaly, Stage 5 chronic kidney disease, Ureteral atresia... |
OMIM:208540 |
| Subaortic Stenosis-Short Stature Syndrome |
|
Microphthalmia, Obesity |
ORPHA:3191 |
| Proboscis Lateralis |
|
Cataract, Corneal opacity, Anophthalmia, Optic nerve hypoplasia, Optic disc coloboma, Microcornea... |
ORPHA:141099 |
| Galloway-Mowat Syndrome 1 |
|
Cataract, Small for gestational age, Optic atrophy, Hypoplasia of the iris, Opacification of the ... |
OMIM:251300 |
| Hepatic Veno-Occlusive Disease |
|
Increased body weight |
ORPHA:890 |
| Acrofrontofacionasal Dysostosis 1 |
|
Microphthalmia, Iris atrophy, Optic atrophy |
OMIM:201180 |
| Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Retinal detachment, Abnormality of retinal pigmentation, Anophthalmia, Cataract, Chorioretinal dy... |
ORPHA:2526 |
| Mycophenolate Mofetil Embryopathy |
|
Microphthalmia, Iris coloboma, Chorioretinal coloboma |
ORPHA:268249 |
| Atopic Keratoconjunctivitis |
|
Corneal opacity, Keratitis, Keratoconjunctivitis sicca, Chemosis, Corneal neovascularization |
ORPHA:163934 |
| Incontinentia Pigmenti |
|
Retinal detachment, Cataract, Abnormal chorioretinal morphology, Corneal opacity, Keratitis, Reti... |
ORPHA:464 |
| Senior-Loken Syndrome 9 |
|
Macular degeneration, Rod-cone dystrophy, Retinal dystrophy, Obesity |
OMIM:616629 |
| 3Q29 Microdeletion Syndrome |
|
Microphthalmia, Failure to thrive, Cataract |
ORPHA:65286 |
| Duane-Radial Ray Syndrome |
|
Cataract, Optic disc hypoplasia, Retinal coloboma, Microphthalmia, Iris coloboma |
OMIM:607323 |
| Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Ectopia pupillae |
OMIM:618223 |
| Neuhauser Syndrome |
|
Hypoplasia of the iris, Iridodonesis, Megalocornea |
OMIM:249310 |
| Ritscher-Schinzel Syndrome 3 |
|
Microphthalmia, Chorioretinal coloboma |
OMIM:619135 |
| Adams-Oliver Syndrome |
|
Microphthalmia, Failure to thrive, Cataract |
ORPHA:974 |
| Mowat-Wilson Syndrome |
|
Cataract, Microcornea, Ectopia pupillae, Chorioretinal coloboma, Microphthalmia, Iris coloboma |
OMIM:235730 |
| Craniotubular Dysplasia, Ikegawa Type |
|
Optic neuropathy, Phthisis bulbi, Optic atrophy, Optic nerve compression, Mydriasis |
OMIM:619727 |
| Atelis Syndrome 2 |
|
Microphthalmia, Remnants of the hyaloid vascular system, Vitreous hemorrhage, Developmental cataract |
OMIM:620185 |
| Serotonin Syndrome |
|
Mydriasis |
ORPHA:43116 |
| Joubert Syndrome 37 |
|
Microphthalmia, Obesity |
OMIM:619185 |
| Full Nf2-Related Schwannomatosis |
|
Posterior subcapsular cataract, Remnants of the hyaloid vascular system, Cortical cataract |
ORPHA:637 |
| Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Abnormality of visual evoked potentials |
ORPHA:1389 |
| Linear Nevus Sebaceus Syndrome |
|
Microphthalmia, Iris coloboma |
ORPHA:2612 |
| Bickerstaff Brainstem Encephalitis |
|
Anisocoria, Mydriasis |
ORPHA:79138 |
| Oculotrichoanal Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2717 |
| Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Overweight, Astigmatism |
OMIM:619769 |
| Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Increased body mass index, Increased body weight |
OMIM:614450 |
| Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Microcornea, Microphthalmia |
OMIM:110100 |
| Ring Chromosome 10 Syndrome |
|
Microphthalmia |
ORPHA:1438 |
| Meckel Syndrome |
|
Cataract, Abnormal chorioretinal morphology, Anophthalmia, Sclerocornea, Optic atrophy, Microcorn... |
ORPHA:564 |
| H Syndrome |
|
Hypertriglyceridemia, Abnormality of the kidney, Hepatosplenomegaly, Micropenis, Enlarged kidney |
ORPHA:168569 |
| Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Microphthalmia, Failure to thrive, Cataract |
OMIM:302960 |
| Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome |
|
Increased body weight |
ORPHA:589905 |
| Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Nongranulomatous uveitis, Anterior uveitis, Cataract, Choroidal neovascularization, Papilledema, ... |
ORPHA:91500 |
| Vacterl With Hydrocephalus |
|
Microcornea, Microphthalmia, Anophthalmia, Abnormal optic nerve morphology |
ORPHA:3412 |
| Superficial Siderosis |
|
Anisocoria |
ORPHA:247245 |
| Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Cataract, Ocular albinism, Iris hypopigmentation |
ORPHA:2720 |
| Focal Dermal Hypoplasia |
|
Corneal opacity, Ectopia lentis, Hypoplasia of the iris, Chorioretinal coloboma, Microphthalmia, ... |
ORPHA:2092 |
| Meckel Syndrome, Type 5 |
|
Microphthalmia |
OMIM:611561 |
| Skin Creases, Congenital Symmetric Circumferential, 1 |
|
Microcornea, Microphthalmia |
OMIM:156610 |
| Lymphedema-Distichiasis Syndrome |
|
Microphthalmia, Corneal ulceration, Conjunctivitis, Recurrent corneal erosions |
OMIM:153400 |
| Joubert Syndrome 14 |
|
Microphthalmia, Coloboma |
OMIM:614424 |
| Hallermann-Streiff Syndrome |
|
Cataract, Small for gestational age, Optic disc coloboma, Chorioretinal coloboma, Microphthalmia,... |
OMIM:234100 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hepatomegaly, Hypertriglyceridemia, Proteinuria, Hyperlipidemia, Stage 5 chronic kidney disease, ... |
ORPHA:79259 |
| Bardet-Biedl Syndrome 17 |
|
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Macular atrophy, Obesity, Rod-c... |
OMIM:615994 |
| Leiomyomatosis, Diffuse, With Alport Syndrome |
|
Failure to thrive, Cataract, Lenticonus, Anterior lenticonus |
OMIM:308940 |
| Pseudohypoparathyroidism, Type Ic |
|
Cataract, Obesity |
OMIM:612462 |
| Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity |
|
Astigmatism, Obesity, Optic nerve dysplasia |
OMIM:617296 |
| Bardet-Biedl Syndrome 6 |
|
Pigmentary retinopathy, Rod-cone dystrophy, Obesity |
OMIM:605231 |
| Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome |
|
Microphthalmia, Iris coloboma |
ORPHA:1236 |
| Bardet-Biedl Syndrome 20 |
|
Papilledema, Obesity, Astigmatism, Retinal vascular tortuosity, Rod-cone dystrophy |
OMIM:619471 |
| Marfan Syndrome |
|
Cataract, Ectopia lentis, Microspherophakia, Increased axial length of the globe, Hypoplasia of t... |
OMIM:154700 |
| Martsolf Syndrome 1 |
|
Microphthalmia, Cataract, Developmental cataract |
OMIM:212720 |
| Osteopetrosis, Autosomal Recessive 5 |
|
Optic disc pallor, Optic atrophy, Mydriasis |
OMIM:259720 |
| Cockayne Syndrome Type 3 |
|
Optic disc pallor, Cataract, Retinal atrophy, Retinal dystrophy, Retinal hemorrhage, Microcornea,... |
ORPHA:90324 |
| Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Ocular anterior segment dysgenesis, Bilateral microphthalmos |
ORPHA:369891 |
| Branchio-Oculo-Facial Syndrome |
|
Microcornea, Coloboma, Cataract, Iris coloboma |
ORPHA:1297 |
| Cat Eye Syndrome |
|
Microphthalmia, Iris coloboma, Chorioretinal coloboma |
OMIM:115470 |
| Collagenoma, Familial Cutaneous |
|
Iris atrophy |
OMIM:115250 |
| Developmental And Epileptic Encephalopathy 3 |
|
Abnormality of visual evoked potentials |
OMIM:609304 |
| Knobloch Syndrome |
|
Retinal detachment, Cataract, Ectopia lentis, Abnormal vitreous humor morphology, Macular degener... |
ORPHA:1571 |
| Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Enlarged kidney, Micropenis, Renal dysplasia, Polycystic kidney dysplasia |
OMIM:613091 |
| Joubert Syndrome 2 |
|
Retinal dystrophy, Optic disc coloboma, Chorioretinal coloboma, Microphthalmia, Failure to thrive |
OMIM:608091 |
| Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Cardiomegaly, Pancreatic hyperplasia, Nephrolithiasis, Renal cortical cysts, Nephro... |
OMIM:130650 |
| Blau Syndrome |
|
Nongranulomatous uveitis, Cataract, Band keratopathy, Uveitis, Iritis, Cystoid macular edema |
OMIM:186580 |
| Acrocephalopolydactylous Dysplasia |
|
Hepatomegaly, Cystic renal dysplasia, Enlarged kidney |
OMIM:200995 |
| Kaposiform Lymphangiomatosis |
|
Splenomegaly, Multiple renal cysts, Enlarged kidney, Hepatosplenomegaly |
ORPHA:464329 |
| Oculocutaneous Albinism Type 1A |
|
Abnormality of visual evoked potentials, Ocular albinism, Iris hypopigmentation |
ORPHA:79431 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 10 |
|
Microphthalmia |
OMIM:619053 |
| Curry-Jones Syndrome |
|
Microphthalmia, Iris coloboma |
OMIM:601707 |
| Knobloch Syndrome 2 |
|
Anterior cortical cataract |
OMIM:618458 |
| Premature Aging Syndrome, Penttinen Type |
|
Corneal opacity, Hypermyelinated retinal nerve fibers, Corneal stromal edema, Microphthalmia, Fai... |
OMIM:601812 |
| Bosma Arhinia Microphthalmia Syndrome |
|
Microphthalmia, Cataract, Coloboma |
OMIM:603457 |
| Autosomal Recessive Spastic Paraplegia Type 44 |
|
Abnormality of visual evoked potentials |
ORPHA:320401 |
| Cockayne Syndrome |
|
Abnormality of retinal pigmentation, Optic disc pallor, Cataract, Retinal atrophy, Retinal dystro... |
ORPHA:191 |
| Lymphoid Interstitial Pneumonia |
|
Hepatomegaly, Enlarged kidney |
ORPHA:79128 |
| 2Q31.1 Microdeletion Syndrome |
|
Microphthalmia, Optic disc coloboma, Iris coloboma, Coloboma |
ORPHA:251014 |
| Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Increased body weight |
ORPHA:276608 |
| Beckwith-Wiedemann Syndrome |
|
Ureteral duplication, Hepatomegaly, Elevated circulating alpha-fetoprotein concentration, Cardiom... |
ORPHA:116 |
| Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Microphthalmia, Failure to thrive, Corneal opacity |
ORPHA:364577 |
| Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Microphthalmia |
OMIM:300863 |
| Endocrine-Cerebroosteodysplasia |
|
Hyperechogenic kidneys, Hypospadias, Microphallus, Enlarged kidney |
OMIM:612651 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Hyponatremia, Renal insufficiency, Recurrent urinary tract infections, Splenomegaly, Oliguria, St... |
ORPHA:731 |
| Microphthalmia With Linear Skin Defects Syndrome |
|
Abnormality of retinal pigmentation, Failure to thrive, Anophthalmia, Corneal opacity, Chorioreti... |
ORPHA:2556 |
| Witteveen-Kolk Syndrome |
|
Cataract, Small for gestational age, Obesity, Anisocoria, Microphthalmia, Iris coloboma |
OMIM:613406 |
| Dubowitz Syndrome |
|
Hypoplasia of the iris, Microphthalmia, Megalocornea, Rod-cone dystrophy, Iris coloboma |
OMIM:223370 |
| Smith-Magenis Syndrome |
|
Retinal detachment, Increased body weight |
OMIM:182290 |
| Cockayne Syndrome B |
|
Small for gestational age, Optic atrophy, Developmental cataract, Microcornea, Hypoplasia of the ... |
OMIM:133540 |
| Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Renal malrotation, Multicystic kidney dysplasia, Retinal coloboma, Nephroblastoma, Bifid ureter, ... |
ORPHA:500095 |
| Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation |
|
Abnormality of visual evoked potentials, Astigmatism |
OMIM:616875 |
| Hydrolethalus |
|
Microphthalmia, Anophthalmia |
ORPHA:2189 |
| Cerebrooculofacioskeletal Syndrome 4 |
|
Bilateral microphthalmos, Failure to thrive in infancy, Abnormal retinal morphology, Decreased bo... |
OMIM:610758 |
| Wolf-Hirschhorn Syndrome |
|
Rieger anomaly, Small for gestational age, Ectopia pupillae, Failure to thrive, Iris coloboma |
OMIM:194190 |
| Monosomy 18P |
|
Microphthalmia |
ORPHA:1598 |
| Mucolipidosis Ii Alpha/Beta |
|
Hepatomegaly, Increased serum beta-hexosaminidase, Cardiomegaly, Splenomegaly, Mucopolysaccharidu... |
OMIM:252500 |
| Hyperparathyroidism, Transient Neonatal |
|
Enlarged kidney, Unilateral renal agenesis |
OMIM:618188 |
| Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Iris atrophy, Cataract, Abnormal pupil morphology, Optic atrophy, Microcornea, Ectopia pupillae, ... |
ORPHA:261552 |
| Pituitary Apoplexy |
|
Mydriasis |
ORPHA:95613 |
| Sponastrime Dysplasia |
|
Microcoria, Cataract, Congenital aphakia |
ORPHA:93357 |
| Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Abnormality of visual evoked potentials, Astigmatism, Abnormal amplitude of flash visual evoked p... |
ORPHA:168491 |
| Aicardi Syndrome |
|
Retinal detachment, Cataract, Chorioretinal lacunae, Optic disc coloboma, Optic atrophy, Micropht... |
OMIM:304050 |
| Canavan Disease |
|
Abnormality of visual evoked potentials |
ORPHA:141 |
| Stargardt Disease |
|
Abnormality of visual evoked potentials |
ORPHA:827 |
| Myoclonic-Astatic Epilepsy |
|
Microphthalmia |
ORPHA:1942 |
| Fanconi Anemia, Complementation Group S |
|
Microphthalmia, Failure to thrive |
OMIM:617883 |
| Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Microphthalmia, Cyclopia, Iris coloboma |
ORPHA:3186 |
| Basal Cell Nevus Syndrome 1 |
|
Microphthalmia, Cataract, Iris coloboma |
OMIM:109400 |
| Chromosome 13Q14 Deletion Syndrome |
|
Microphthalmia, Retinoblastoma, Iris coloboma, Chorioretinal coloboma |
OMIM:613884 |
| Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Microphthalmia |
OMIM:618494 |
| Craniolenticulosutural Dysplasia |
|
Posterior Y-sutural cataract |
ORPHA:50814 |
| Alg9-Cdg |
|
Hypoplasia of the bladder, Hepatomegaly, Ureteral hypoplasia, Abnormal renal artery morphology, H... |
ORPHA:79328 |
| Moebius Syndrome |
|
Microphthalmia |
OMIM:157900 |
| Leprechaunism |
|
Hepatomegaly, Enlarged ovaries, Long penis, Hypercalciuria, Nephrocalcinosis, Hypokalemia, Increa... |
ORPHA:508 |
| Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
Bilateral microphthalmos, Optic nerve hypoplasia |
OMIM:607597 |
| Arachnoid Cyst |
|
Mydriasis |
ORPHA:2356 |
| Alternating Hemiplegia Of Childhood |
|
Failure to thrive, Mydriasis |
ORPHA:2131 |
| Microcephaly 20, Primary, Autosomal Recessive |
|
Microphthalmia, Optic nerve hypoplasia |
OMIM:617914 |
| Holoprosencephaly |
|
Anophthalmia, Failure to thrive in infancy, Optic atrophy, Chorioretinal coloboma, Microphthalmia... |
ORPHA:2162 |
| Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Microphthalmia |
ORPHA:228390 |
| Manitoba Oculotrichoanal Syndrome |
|
Microphthalmia, Anophthalmia |
OMIM:248450 |
| Microphthalmia, Syndromic 2 |
|
Retinal detachment, Anophthalmia, Remnants of the hyaloid vascular system, Phthisis bulbi, Develo... |
OMIM:300166 |
| Oculodentodigital Dysplasia |
|
Microcornea, Cataract, Optic atrophy, Abnormality iris morphology |
ORPHA:2710 |
| Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome |
|
Abnormality of visual evoked potentials, Astigmatism |
ORPHA:480898 |
| X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Microphthalmia |
ORPHA:163966 |
| Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Microphthalmia, Cataract, Sutural cataract, Nuclear pulverulent cataract |
OMIM:612474 |
| Meckel Syndrome, Type 2 |
|
Microphthalmia |
OMIM:603194 |
| Matthew-Wood Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2470 |
| Autosomal Dominant Kenny-Caffey Syndrome |
|
Retinal calcification, Papilledema, Bilateral microphthalmos, Developmental cataract |
ORPHA:93325 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Microcornea, Microphthalmia, Developmental cataract |
ORPHA:464738 |
| Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Abnormality of visual evoked potentials |
ORPHA:1933 |
| Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Optic atrophy, Coloboma, Peters anomaly, Microphthalmia, Tall stature |
OMIM:616975 |
| Oculodentodigital Dysplasia |
|
Microcornea, Microphthalmia, Cataract, Uveitis |
OMIM:164200 |
| Fanconi Anemia, Complementation Group R |
|
Microphthalmia |
OMIM:617244 |
| Treacher-Collins Syndrome |
|
Microphthalmia, Failure to thrive, Cataract, Iris coloboma |
ORPHA:861 |
| Pseudotrisomy 13 Syndrome |
|
Microphthalmia, Cyclopia |
OMIM:264480 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Mydriasis |
OMIM:619351 |
| Thyroid Hormone Resistance, Generalized, Autosomal Recessive |
|
Small for gestational age, Increased body weight |
OMIM:274300 |
| Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Nephroblastoma, Enlarged kidney |
ORPHA:276280 |
| Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Abnormality of visual evoked potentials |
ORPHA:1215 |
| Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Optic nerve hypoplasia, Coloboma, Abnormal optic disc morphology, Retinal coloboma, Microphthalmi... |
ORPHA:508498 |
| Microphthalmia With Limb Anomalies |
|
Microphthalmia, Failure to thrive, Anophthalmia |
OMIM:206920 |
| Chondrodysplasia Punctata, Autosomal Dominant |
|
Cataract |
OMIM:118650 |
| Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Microphthalmia |
ORPHA:404440 |
| Fryns Syndrome |
|
Microphthalmia, Corneal opacity |
ORPHA:2059 |
| Mosaic Trisomy 1 |
|
Microphthalmia, Opacification of the corneal stroma |
ORPHA:1692 |
| Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Abnormality of visual evoked potentials |
ORPHA:2971 |
| Mosaic Trisomy 9 |
|
Microphthalmia, Corneal opacity |
ORPHA:99776 |
| Aicardi Syndrome |
|
Retinal detachment, Abnormality of retinal pigmentation, Optic disc coloboma, Optic atrophy, Chor... |
ORPHA:50 |
| Mend Syndrome |
|
Microphthalmia, Failure to thrive, Cataract |
ORPHA:401973 |
| Meckel Syndrome, Type 4 |
|
Microphthalmia |
OMIM:611134 |
| Heart And Brain Malformation Syndrome |
|
Microphthalmia |
OMIM:616920 |
| Ataxia With Vitamin E Deficiency |
|
Abnormality of visual evoked potentials |
ORPHA:96 |
| Trichothiodystrophy |
|
Bilateral microphthalmos, Developmental cataract, Microcornea, Macular degeneration, Keratoconjun... |
ORPHA:33364 |
| Fetal Alcohol Syndrome |
|
Microphthalmia |
ORPHA:1915 |
| Neurodegeneration With Brain Iron Accumulation 2A |
|
Abnormality of visual evoked potentials |
OMIM:256600 |
| Infantile Nephropathic Cystinosis |
|
Pigmentary retinopathy, Abnormal cornea morphology, Failure to thrive, Corneal crystals |
ORPHA:411629 |
| Tetraamelia Syndrome 1 |
|
Microphthalmia, Cataract |
OMIM:273395 |
| Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development |
|
Abnormality of visual evoked potentials |
OMIM:614457 |
| Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Microphthalmia, Cataract |
ORPHA:306542 |
| Ogden Syndrome |
|
Global glomerulosclerosis, Cardiomegaly, Polycystic kidney dysplasia, Hyperbilirubinemia, Enlarge... |
OMIM:300855 |
| Cousin Syndrome |
|
Microcornea, Microphthalmia |
OMIM:260660 |
| 3P25.3 Microdeletion Syndrome |
|
Microphthalmia |
ORPHA:435638 |
| Charcot-Marie-Tooth Disease, Type 4D |
|
Abnormality of visual evoked potentials |
OMIM:601455 |
| Marden-Walker Syndrome |
|
Microphthalmia |
OMIM:248700 |
| Holoprosencephaly 2 |
|
Remnants of the hyaloid vascular system, Chorioretinal coloboma, Microphthalmia, Cyclopia, Iris c... |
OMIM:157170 |
| Hermansky-Pudlak Syndrome |
|
Cataract, Ocular albinism, Astigmatism, Abnormality of visual evoked potentials, Iris hypopigment... |
ORPHA:79430 |
| Lowe Oculocerebrorenal Syndrome |
|
Microphthalmia, Dense posterior cortical cataract, Corneal scarring, Developmental cataract |
OMIM:309000 |
| Mepan Syndrome |
|
Abnormality of visual evoked potentials |
ORPHA:508093 |
| Meacham Syndrome |
|
Enlarged kidney, Horseshoe kidney |
OMIM:608978 |
| Neonatal Marfan Syndrome |
|
Iridodonesis, Megalocornea, Small for gestational age, Ectopia lentis |
ORPHA:284979 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type |
|
Increased body weight |
OMIM:300860 |
| Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Abnormality iris morphology, Tall stature |
ORPHA:91387 |
| Helsmoortel-Van Der Aa Syndrome |
|
Recurrent urinary tract infections, Enlarged kidney, Enuresis nocturna |
OMIM:615873 |
| Mosaic Variegated Aneuploidy Syndrome |
|
Microphthalmia, Cataract, Corneal opacity |
ORPHA:1052 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Enlarged kidney, Cardiomegaly |
OMIM:261740 |
| Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies |
|
Microphthalmia |
OMIM:620098 |
| Chromosome 1Q41-Q42 Deletion Syndrome |
|
Microphthalmia |
OMIM:612530 |
| Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Microphthalmia |
OMIM:241410 |
| Neurocardiofaciodigital Syndrome |
|
Optic disc pallor, Cataract, Small for gestational age, Sclerocornea, Failure to thrive |
OMIM:619869 |
| Microphthalmia, Syndromic 6 |
|
Anophthalmia, Retinal dystrophy, Sclerocornea, Microcornea, Coloboma, Microphthalmia, Failure to ... |
OMIM:607932 |
| Dysbetalipoproteinemia |
|
Corneal arcus, Obesity |
ORPHA:412 |
| Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Microphthalmia |
ORPHA:2728 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Hepatomegaly, Renal agenesis, Cardiomegaly, Horseshoe kidney, Enlarged kidney |
OMIM:306955 |
| Cln5 Disease |
|
Abnormality of visual evoked potentials |
ORPHA:228360 |
| Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Abdominal obesity, Increased body weight |
OMIM:615954 |
| Hallermann-Streiff Syndrome |
|
Microphthalmia, Uveitis, Developmental cataract |
ORPHA:2108 |
| 1P21.3 Microdeletion Syndrome |
|
Astigmatism, Obesity |
ORPHA:293948 |
| Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy |
|
Abnormality of visual evoked potentials |
OMIM:601152 |
| Xq12-Q13.3 Duplication Syndrome |
|
Abnormality of visual evoked potentials |
ORPHA:314389 |
| Cocaine Intoxication |
|
Mydriasis |
ORPHA:90068 |
| White-Sutton Syndrome |
|
Abnormality of visual evoked potentials, Astigmatism, Iris coloboma |
OMIM:616364 |
| Myhre Syndrome |
|
Microphthalmia, Cataract, Small for gestational age, Obesity |
OMIM:139210 |
| Mohr-Tranebjaerg Syndrome |
|
Abnormality of visual evoked potentials |
ORPHA:52368 |
| Multiple System Atrophy 1, Susceptibility To |
|
Iris atrophy |
OMIM:146500 |
| Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Microphthalmia, Failure to thrive, Corneal opacity |
OMIM:608670 |
| Ruvalcaba Syndrome |
|
Abnormality of visual evoked potentials |
ORPHA:3121 |
| Blue Diaper Syndrome |
|
Increased body weight |
ORPHA:94086 |
| Late-Infantile/Juvenile Krabbe Disease |
|
Abnormality of visual evoked potentials |
ORPHA:206443 |
| Bartsocas-Papas Syndrome 1 |
|
Popliteal pterygium, Opacification of the corneal stroma, Microphthalmia, Pterygium, Corneal ulce... |
OMIM:263650 |
| Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Increased body weight, Large for gestational age |
ORPHA:263455 |
| Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Microphthalmia, Cyclopia |
ORPHA:2166 |
| Chromosome 13Q33-Q34 Deletion Syndrome |
|
Microphthalmia, Small for gestational age |
OMIM:619148 |
| Pelizaeus-Merzbacher Disease |
|
Abnormality of visual evoked potentials |
ORPHA:702 |
| 22Q11.2 Deletion Syndrome |
|
Failure to thrive, Cataract, Retinal arteriolar tortuosity, Optic atrophy, Obesity, Microphthalmi... |
ORPHA:567 |
| Holoprosencephaly 7 |
|
Microphthalmia, Bilateral microphthalmos, Iris coloboma |
OMIM:610828 |
| Infantile Neuroaxonal Dystrophy |
|
Abnormality of visual evoked potentials |
ORPHA:35069 |
| Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Microphthalmia, Cataract |
OMIM:620005 |
| Magel2-Related Prader-Willi-Like Syndrome |
|
Chorioretinal hypopigmentation, Failure to thrive, Increased body weight, Abdominal obesity |
ORPHA:398069 |
| Insulinoma |
|
Increased body weight |
ORPHA:97279 |
| Fryns Syndrome |
|
Microphthalmia, Opacification of the corneal stroma, Large for gestational age |
OMIM:229850 |
| Renpenning Syndrome 1 |
|
Microphthalmia, Cataract, Coloboma |
OMIM:309500 |
| Microcephaly-Micromelia Syndrome |
|
Microphthalmia |
OMIM:251230 |
| Fanconi Anemia |
|
Cataract, Weight loss, Aplasia/Hypoplasia of the iris, Astigmatism, Microphthalmia |
ORPHA:84 |
| Roberts Syndrome |
|
Microphthalmia, Cataract |
ORPHA:3103 |
| Frontonasal Dysplasia 2 |
|
Microphthalmia |
OMIM:613451 |
| Pruritic Urticarial Papules And Plaques Of Pregnancy |
|
Increased body weight |
ORPHA:64745 |
| Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1 |
|
Abnormality of visual evoked potentials |
OMIM:125310 |
| Sotos Syndrome |
|
Overgrowth, Increased body weight, Tall stature |
OMIM:117550 |
| Scorpion Envenomation |
|
Mydriasis |
ORPHA:466677 |
| Vascular Ehlers-Danlos Syndrome |
|
Keratoconus, Abnormal pupil morphology |
ORPHA:286 |
| Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Microphthalmia, Optic disc coloboma, Iris coloboma |
OMIM:620186 |
| Focal Dermal Hypoplasia |
|
Anophthalmia, Ectopia lentis, Optic atrophy, Chorioretinal coloboma, Aniridia, Microphthalmia, Ir... |
OMIM:305600 |
| Townes-Brocks Syndrome |
|
Cataract, Chorioretinal coloboma, Limbal dermoid, Microphthalmia, Failure to thrive, Iris coloboma |
ORPHA:857 |
| Holoprosencephaly 1 |
|
Microphthalmia, Cyclopia |
OMIM:236100 |
| Galloway-Mowat Syndrome 3 |
|
Microphthalmia, Failure to thrive |
OMIM:617729 |
| Isolated Arrhinia |
|
Microphthalmia |
ORPHA:1134 |
| Skin Creases, Congenital Symmetric Circumferential, 2 |
|
Microcornea, Microphthalmia |
OMIM:616734 |
| Charge Syndrome |
|
Anophthalmia, Optic atrophy, Chorioretinal coloboma, Microphthalmia, Iris coloboma |
ORPHA:138 |
| Fanconi Anemia, Complementation Group F |
|
Microphthalmia, Failure to thrive |
OMIM:603467 |
| Ohdo Syndrome, X-Linked |
|
Microphthalmia, Decreased body weight |
OMIM:300895 |
| Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Hepatomegaly, Hypospadias, Splenomegaly, Renal cyst, Duplication of renal pelvis, Nephroblastoma,... |
OMIM:312870 |
| Meckel Syndrome 14 |
|
Microphthalmia |
OMIM:619879 |
| Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Increased body weight |
OMIM:615830 |
| Fanconi Anemia, Complementation Group E |
|
Microphthalmia, Small for gestational age |
OMIM:600901 |
| Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Abnormality of visual evoked potentials |
ORPHA:485421 |
| Yunis-Varon Syndrome |
|
Cataract, Sclerocornea, Bilateral microphthalmos, Severe failure to thrive, Microphthalmia |
ORPHA:3472 |
| Infantile Krabbe Disease |
|
Abnormality of visual evoked potentials |
ORPHA:206436 |
| Fanconi Anemia, Complementation Group A |
|
Microphthalmia, Small for gestational age |
OMIM:227650 |
| Charge Syndrome |
|
Anophthalmia, Cataract, Unilateral microphthalmos, Coloboma, Retinal coloboma, Microphthalmia, Ir... |
OMIM:214800 |
| Cardiac-Urogenital Syndrome |
|
Enlarged kidney, Micropenis, Penoscrotal hypospadias, Patent urachus |
OMIM:618280 |
| Friedreich Ataxia |
|
Abnormality of visual evoked potentials |
OMIM:229300 |
| Branchiooculofacial Syndrome |
|
Anophthalmia, Cataract, Retinal coloboma, Microphthalmia, Iris coloboma |
OMIM:113620 |
| Meckel Syndrome, Type 1 |
|
Microphthalmia, Iris coloboma |
OMIM:249000 |
| Teebi-Shaltout Syndrome |
|
Microphthalmia |
OMIM:272950 |
| Fanconi Anemia, Complementation Group C |
|
Microphthalmia, Small for gestational age |
OMIM:227645 |
| Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Microphthalmia |
OMIM:616300 |
| Plague |
|
Conjunctival hyperemia, Mydriasis |
ORPHA:707 |
| Proximal Renal Tubular Acidosis |
|
Coloboma, Cataract, Band keratopathy |
ORPHA:47159 |
| Microphthalmia With Limb Anomalies |
|
Microphthalmia, Failure to thrive, Optic atrophy, True anophthalmia |
ORPHA:1106 |
| Microphthalmia, Syndromic 1 |
|
Anophthalmia, Optic disc coloboma, Microcornea, Ciliary body coloboma, Chorioretinal coloboma, Mi... |
OMIM:309800 |
| Pallister-Hall Syndrome |
|
Microphthalmia |
OMIM:146510 |
| Metachromatic Leukodystrophy, Late Infantile Form |
|
Abnormality of visual evoked potentials |
ORPHA:309256 |
| Adrenocortical Carcinoma |
|
Increased body weight, Weight loss |
ORPHA:1501 |
| Metachromatic Leukodystrophy, Juvenile Form |
|
Abnormality of visual evoked potentials |
ORPHA:309263 |
| Neu-Laxova Syndrome 1 |
|
Microphthalmia, Pterygium, Cataract |
OMIM:256520 |
| Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Popliteal pterygium, Microphthalmia, Antecubital pterygium |
OMIM:609945 |
| Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Failure to thrive, Increased body weight |
ORPHA:264580 |
| Mogs-Cdg |
|
Abnormality of visual evoked potentials |
ORPHA:79330 |
| Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Optic disc pallor, Optic nerve hypoplasia, Bilateral microphthalmos, Severe failure to thrive, At... |
ORPHA:468631 |
| Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Abdominal obesity, Increased body weight |
ORPHA:189427 |
| Cockayne Syndrome A |
|
Abnormality of visual evoked potentials, Cataract, Opacification of the corneal stroma |
OMIM:216400 |
| Fraser Syndrome 2 |
|
Microphthalmia |
OMIM:617666 |
| Microphthalmia, Syndromic 9 |
|
Anophthalmia, Bilateral microphthalmos |
OMIM:601186 |
| Fanconi Anemia, Complementation Group D2 |
|
Microphthalmia, Small for gestational age |
OMIM:227646 |
| Fanconi Anemia, Complementation Group L |
|
Microphthalmia |
OMIM:614083 |
| Holoprosencephaly 9 |
|
Microphthalmia, Anophthalmia, Optic nerve hypoplasia |
OMIM:610829 |
| Microgastria-Limb Reduction Defect Syndrome |
|
Microphthalmia, Failure to thrive, Anophthalmia |
ORPHA:2538 |
| Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Increased body weight |
ORPHA:79240 |
| Roberts-Sc Phocomelia Syndrome |
|
Cataract, Corneal opacity, Coloboma, Opacification of the corneal stroma, Microphthalmia |
OMIM:268300 |
| Cerebrotendinous Xanthomatosis |
|
Abnormality of visual evoked potentials, Juvenile cataract |
ORPHA:909 |
| Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Microphthalmia |
OMIM:617925 |
| Metachromatic Leukodystrophy, Adult Form |
|
Abnormality of visual evoked potentials |
ORPHA:309271 |
| Neurooculorenal Syndrome |
|
Iris atrophy |
OMIM:620305 |
| Fraser Syndrome 1 |
|
Anophthalmia, Corneal opacity, Bilateral microphthalmos |
OMIM:219000 |
| Insulin-Resistance Syndrome Type B |
|
Abnormality of body weight, Decreased body weight, Increased body weight, Weight loss |
ORPHA:2298 |
| Monosomy 9P |
|
Microphthalmia |
ORPHA:261112 |
| Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Abnormality of visual evoked potentials |
ORPHA:258 |
| Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Cataract, Astigmatism, Retinal coloboma, Axenfeld anomaly, Microphthalmia, Failure to thrive, Iri... |
ORPHA:261537 |
| Mowat-Wilson Syndrome |
|
Cataract, Astigmatism, Retinal coloboma, Axenfeld anomaly, Decreased body weight, Microphthalmia,... |
ORPHA:2152 |
| Degcags Syndrome |
|
Microphthalmia, Failure to thrive, Small for gestational age |
OMIM:619488 |
| Fontaine Progeroid Syndrome |
|
Microphthalmia, Failure to thrive, Small for gestational age |
OMIM:612289 |
| Cushing Disease |
|
Truncal obesity, Abdominal obesity, Optic nerve compression, Increased body weight |
ORPHA:96253 |
| Metachromatic Leukodystrophy |
|
Abnormality of visual evoked potentials |
ORPHA:512 |
| Hellp Syndrome |
|
Increased body weight |
ORPHA:244242 |
| Adams-Oliver Syndrome 1 |
|
Microphthalmia |
OMIM:100300 |
| 8Q24.3 Microdeletion Syndrome |
|
Small for gestational age, Bilateral microphthalmos, Retinal coloboma, Optic nerve hypoplasia |
ORPHA:508488 |
| Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Abnormality of visual evoked potentials |
OMIM:203700 |
| Fraser Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2052 |
| Pallister-Hall Syndrome |
|
Microphthalmia, Large for gestational age |
ORPHA:672 |
| Autosomal Recessive Malignant Osteopetrosis |
|
Abnormality of visual evoked potentials |
ORPHA:667 |
| Treacher Collins Syndrome 1 |
|
Bilateral microphthalmos |
OMIM:154500 |
| Hydrolethalus Syndrome 1 |
|
Microphthalmia |
OMIM:236680 |
| Craniofacial Microsomia 1 |
|
Limbal dermoid, Microphthalmia, Anophthalmia |
OMIM:164210 |
| Cushing Syndrome Due To Ectopic Acth Secretion |
|
Truncal obesity, Abdominal obesity, Increased body weight, Weight loss |
ORPHA:99889 |
| Carney Complex |
|
Abdominal obesity, Increased body weight, Tall stature |
ORPHA:1359 |
