Ectopia Lentis 2, Isolated, Autosomal Recessive |
|
Ectopia lentis |
OMIM:225100 |
Ectopia Lentis 1, Isolated, Autosomal Dominant |
|
Ectopia lentis |
OMIM:129600 |
Cataract 4, Multiple Types |
|
Developmental cataract |
OMIM:115700 |
Cataract 45 |
|
Developmental cataract |
OMIM:616851 |
Cataract 38 |
|
Developmental cataract |
OMIM:614691 |
Cataract 13 With Adult I Phenotype |
|
Developmental cataract |
OMIM:116700 |
Cataract 37 |
|
Developmental cataract |
OMIM:614422 |
Cataract 35 |
|
Cataract |
OMIM:609376 |
Cataract 36 |
|
Cataract |
OMIM:613887 |
Hereditary Hyperferritinemia-Cataract Syndrome |
|
Cataract |
ORPHA:163 |
Cataract 29 |
|
Cataract |
OMIM:115800 |
Hypertrophic Neuropathy And Cataract |
|
Cataract |
OMIM:239900 |
Cataract 44 |
|
Developmental cataract |
OMIM:616509 |
Iris Pigment Epithelium Anomalies |
|
Iris cyst |
OMIM:601616 |
Glaucoma-Ectopia Lentis-Microspherophakia-Stiff Joints-Short Stature Syndrome |
|
Ectopia lentis |
ORPHA:2084 |
Cataract And Congenital Ichthyosis |
|
Cataract |
OMIM:212400 |
Spondyloepiphyseal Dysplasia With Punctate Corneal Dystrophy |
|
Punctate corneal dystrophy |
OMIM:183850 |
Corneal Dystrophy, Band-Shaped |
|
Band-shaped corneal dystrophy |
OMIM:217500 |
Cochleosaccular Degeneration With Progressive Cataracts |
|
Progressive cataract |
OMIM:120040 |
Corneal Dystrophy, Lisch Epithelial |
|
Corneal dystrophy |
OMIM:300778 |
Pupillary Membrane, Persistence Of |
|
Developmental cataract, Megalocornea, Persistent pupillary membrane |
OMIM:178900 |
Anterior Segment Dysgenesis 5 |
|
Hypoplasia of the fovea, Rieger anomaly, Sclerocornea, Developmental cataract, Microcornea, Hypop... |
OMIM:604229 |
Cataract 14, Multiple Types |
|
Zonular cataract |
OMIM:601885 |
Cornea Guttata With Anterior Polar Cataracts |
|
Anterior polar cataract |
OMIM:121390 |
Anterior Segment Dysgenesis 3 |
|
Rieger anomaly, Ectopia pupillae, Hypoplastic iris stroma, Axenfeld anomaly, Peters anomaly, Post... |
OMIM:601631 |
Anterior Segment Dysgenesis 8 |
|
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Hypoplasia of the iris, Iris transillumi... |
OMIM:617319 |
Bilateral Acute Depigmentation Of The Iris |
|
Iris pigment dispersion, Abnormal corneal endothelium morphology, Abnormal iris pigmentation, Pig... |
ORPHA:69736 |
Autosomal Dominant Keratitis |
|
Hypoplasia of the fovea, Cataract, Keratitis, Abnormal corneal limbus morphology, Bilateral micro... |
ORPHA:2334 |
Microphthalmia, Isolated, With Cataract 1 |
|
Microphthalmia, Cataract |
OMIM:156850 |
Cataract 24 |
|
Anterior polar cataract |
OMIM:601202 |
Cataract 5, Multiple Types |
|
Pulverulent cataract, Nuclear cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract |
OMIM:116800 |
Hydrocephaly-Cerebellar Agenesis Syndrome |
|
Cataract |
ORPHA:1397 |
Anterior Segment Dysgenesis 7 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... |
OMIM:269400 |
Cataract 19, Multiple Types |
|
Cortical pulverulent cataract |
OMIM:615277 |
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome |
|
Cataract |
ORPHA:73245 |
Cataract 39, Multiple Types |
|
Lamellar cataract, Anterior polar cataract, Developmental cataract |
OMIM:615188 |
Peters Anomaly |
|
Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c... |
ORPHA:708 |
Microcornea, Glaucoma, And Absent Frontal Sinuses |
|
Microcornea |
OMIM:156700 |
Anterior Segment Dysgenesis 4 |
|
Hypoplastic iris stroma, Iris hypopigmentation |
OMIM:137600 |
Corneal Dystrophy, Posterior Polymorphous, 2 |
|
Corneal opacity, Corneal dystrophy |
OMIM:609140 |
Dermochondrocorneal Dystrophy |
|
Corneal dystrophy |
ORPHA:79149 |
Cataract 8, Multiple Types |
|
Nuclear cataract, Developmental cataract |
OMIM:115665 |
Cataract 20, Multiple Types |
|
Lamellar cataract, Membranous cataract, Sutural cataract, Cortical cataract |
OMIM:116100 |
Corneal Dystrophy-Perceptive Deafness Syndrome |
|
Corneal opacity, Corneal dystrophy |
ORPHA:1490 |
X-Linked Corneal Dermoid |
|
Abnormal pupil morphology, Corneal opacity |
ORPHA:1661 |
Cataract-Microcornea Syndrome |
|
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma |
ORPHA:1377 |
Coats Disease |
|
Aplasia/Hypoplasia of the iris, Cataract, Abnormal anterior chamber morphology |
ORPHA:190 |
Cataract 22, Multiple Types |
|
Nuclear cataract, Developmental cataract |
OMIM:609741 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane |
ORPHA:1067 |
Cataract 32, Multiple Types |
|
Anterior polar cataract |
OMIM:115650 |
Microphthalmia, Isolated, With Coloboma 4 |
|
Microcornea, Coloboma, Microphthalmia |
OMIM:251505 |
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract |
|
Microcornea, Cataract, Aniridia |
OMIM:106230 |
Galactosialidosis |
|
Corneal opacity |
ORPHA:351 |
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness |
|
Cataract, Chorioretinal coloboma |
OMIM:274205 |
Corneal Dystrophy, Endothelial, X-Linked |
|
Corneal opacity, Corneal dystrophy, Band keratopathy |
OMIM:300779 |
Cataract 7 |
|
Developmental cataract |
OMIM:115660 |
Cataract 10, Multiple Types |
|
Nuclear cataract, Zonular cataract, Posterior Y-sutural cataract, Developmental cataract |
OMIM:600881 |
Aldh18A1-Related De Barsy Syndrome |
|
Cataract |
ORPHA:35664 |
Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Microcornea, Microphthalmia, Corneal opacity |
ORPHA:2432 |
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities |
|
Cataract |
OMIM:300719 |
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome |
|
Corneal opacity, Corneal dystrophy |
ORPHA:3177 |
Cataract 12, Multiple Types |
|
Progressive cataract, Developmental cataract |
OMIM:611597 |
Hyperferritinemia With Or Without Cataract |
|
Nuclear cataract, Pulverulent cataract |
OMIM:600886 |
Edict Syndrome |
|
Keratoconus, Microcornea, Hypoplasia of the iris, Astigmatism, Anterior polar cataract |
OMIM:614303 |
Nathalie Syndrome |
|
Arrhythmia, Cataract |
ORPHA:2663 |
Cataract 9, Multiple Types |
|
Progressive cataract, Cataract, Developmental cataract, Microcornea, Microphthalmia, Iris coloboma |
OMIM:604219 |
Cataract-Ataxia-Deafness-Retardation Syndrome |
|
Developmental cataract |
OMIM:212710 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 3 |
|
Hypertrophic cardiomyopathy, Cataract |
ORPHA:79281 |
Cataract 15, Multiple Types |
|
Lamellar cataract, Nuclear cataract, Cortical cataract |
OMIM:615274 |
Cataract 33, Multiple Types |
|
Lamellar cataract, Nuclear cataract, Cortical cataract |
OMIM:611391 |
Anterior Segment Dysgenesis 6 |
|
Corneal opacity, Abnormal Descemet membrane morphology, Developmental glaucoma, Posterior synechi... |
OMIM:617315 |
Foveal Hypoplasia 1 |
|
Hypoplasia of the fovea, Presenile cataracts |
OMIM:136520 |
X-Linked Retinoschisis |
|
Cataract |
ORPHA:792 |
Dermoids Of Cornea |
|
Corneal opacity |
OMIM:304730 |
Trichomegaly |
|
Cataract |
OMIM:190330 |
Foveal Hypoplasia-Presenile Cataract Syndrome |
|
Cataract |
ORPHA:2253 |
Cataract 42 |
|
Cataract, Developmental cataract |
OMIM:115900 |
Glaucoma 3, Primary Congenital, D |
|
Corneal opacity, Primary congenital glaucoma, Ectopia lentis |
OMIM:613086 |
Cataract 50 With Or Without Glaucoma |
|
Cataract, Persistent pupillary membrane |
OMIM:620253 |
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy |
|
Sudden cardiac death, Juvenile cataract, Arrhythmia |
OMIM:212500 |
Cataract 1, Multiple Types |
|
Microcornea, Posterior subcapsular cataract, Nuclear cataract, Pulverulent cataract |
OMIM:116200 |
Corneal Dystrophy, Groenouw Type I |
|
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy |
OMIM:121900 |
Cortical Dysplasia, Complex, With Other Brain Malformations 4 |
|
Cataract |
OMIM:615412 |
Microphthalmia, Isolated, With Coloboma 3 |
|
Microphthalmia, Cataract, Iris coloboma |
OMIM:610092 |
Corneal Dystrophy, Posterior Polymorphous, 1 |
|
Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ... |
OMIM:122000 |
Spastic Paraparesis And Deafness |
|
Tremor, Cataract |
OMIM:312910 |
Microphthalmia, Isolated, With Coloboma 10 |
|
Anophthalmia, Microcoria, Chorioretinal coloboma, Microphthalmia, Iris coloboma |
OMIM:616428 |
Mucous Membrane Pemphigoid |
|
Corneal opacity |
ORPHA:46486 |
Anterior Segment Dysgenesis 2 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Coloboma, Posterior synechiae of the anteri... |
OMIM:610256 |
Vernal Keratoconjunctivitis |
|
Corneal neovascularization, Abnormal cornea morphology, Abnormal conjunctiva morphology, Punctate... |
ORPHA:70476 |
Corneal Dystrophy, Avellino Type |
|
Lattice corneal dystrophy |
OMIM:607541 |
Microcoria, Congenital |
|
Microcoria, Hypoplasia of the iris dilator muscle |
OMIM:156600 |
Cataract 30, Multiple Types |
|
Posterior polar cataract, Diffuse nuclear cataract, Pulverulent cataract |
OMIM:116300 |
Iridocorneal Endothelial Syndrome |
|
Iris atrophy, Central heterochromia, Uveal ectropion, Abnormal migration of corneal endothelium, ... |
ORPHA:64734 |
Cataract 17, Multiple Types |
|
Microcornea, Nuclear cataract, Pulverulent cataract, Developmental cataract |
OMIM:611544 |
Cataract 11, Multiple Types |
|
Microphthalmia, Cataract, Developmental cataract |
OMIM:610623 |
Glaucoma, Primary Closed-Angle |
|
Anterior synechiae of the anterior chamber |
OMIM:618880 |
Cornea Plana 1, Autosomal Dominant |
|
Flat cornea |
OMIM:121400 |
Galactosemia Iv |
|
Cataract |
OMIM:618881 |
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome |
|
Aplasia/Hypoplasia of the lens, Cataract |
ORPHA:1381 |
Posterior Polymorphous Corneal Dystrophy |
|
Increased corneal curvature, Corneal opacity, Chorioretinal degeneration, Uveal ectropion, Abnorm... |
ORPHA:98973 |
Isolated Aniridia |
|
Aniridia, Cataract, Aplasia/Hypoplasia of the macula, Peters anomaly |
ORPHA:250923 |
Congenital Primary Aphakia |
|
Microphthalmia, Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye,... |
ORPHA:83461 |
Spinocerebellar Degeneration With Macular Corneal Dystrophy, Congenital Cataracts, And Myopia |
|
Corneal dystrophy, Developmental cataract |
OMIM:271320 |
Limbal Stem Cell Deficiency |
|
Opacification of the corneal epithelium, Generalized opacification of the cornea, Keratitis, Corn... |
ORPHA:171673 |
Aniridia 2 |
|
Aniridia, Iris coloboma, Cataract, Lens subluxation |
OMIM:617141 |
Spinocerebellar Ataxia, Autosomal Recessive 24 |
|
Cataract |
OMIM:617133 |
Xeroderma Pigmentosum, Complementation Group G |
|
Tremor, Microphthalmia, Cataract |
OMIM:278780 |
Cataract 3, Multiple Types |
|
Nuclear pulverulent cataract, Sutural cataract, Cerulean cataract, Developmental cataract |
OMIM:601547 |
Morquio Syndrome C |
|
Corneal opacity |
OMIM:252300 |
Dysequilibrium Syndrome |
|
Cataract |
ORPHA:1766 |
Optic Atrophy 3, Autosomal Dominant |
|
Tremor, Cataract |
OMIM:165300 |
Aniridia-Intellectual Disability Syndrome |
|
Aniridia, Cataract, Optic nerve hypoplasia, Ectopia lentis |
ORPHA:1068 |
Gelatinous Drop-Like Corneal Dystrophy |
|
Subepithelial corneal opacities, Central opacification of the cornea, Blepharospasm, Conjunctival... |
ORPHA:98957 |
Cataract 2, Multiple Types |
|
Aculeiform cataract, Nuclear pulverulent cataract, Developmental cataract, Microcornea, Nuclear c... |
OMIM:604307 |
Corneal Dystrophy, Lattice Type I |
|
Lattice corneal dystrophy, Recurrent corneal erosions |
OMIM:122200 |
Corneal Dystrophy, Epithelial Basement Membrane |
|
Map-dot-fingerprint corneal dystrophy, Corneal dystrophy, Recurrent corneal erosions |
OMIM:121820 |
Cataract 21, Multiple Types |
|
Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent cataract, Macular hypoplasi... |
OMIM:610202 |
Cataract, Age-Related Nuclear |
|
Nuclear cataract |
OMIM:601371 |
Cataract 41 |
|
Nuclear cataract |
OMIM:116400 |
Cataract 18 |
|
Nuclear cataract |
OMIM:610019 |
Neutropenia, Severe Congenital, 9, Autosomal Dominant |
|
Cataract |
OMIM:619813 |
Uncombable Hair Syndrome 2 |
|
Juvenile cataract |
OMIM:617251 |
Cataract 6, Multiple Types |
|
Posterior polar cataract, Developmental cataract |
OMIM:116600 |
Blindness-Scoliosis-Arachnodactyly Syndrome |
|
Cataract, Lens subluxation, Microphakia |
ORPHA:171844 |
Aniridia 3 |
|
Aniridia, Cataract |
OMIM:617142 |
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features |
|
Hypoplasia of the fovea, Iris cyst |
OMIM:620086 |
Deafness, Cataract, Impaired Intellectual Development, And Polyneuropathy |
|
Developmental cataract |
OMIM:619354 |
Anterior Segment Dysgenesis 1 |
|
Microcornea, Opacification of the corneal stroma, Peters anomaly, Posterior polar cataract, Ocula... |
OMIM:107250 |
Winchester Syndrome |
|
Corneal opacity |
OMIM:277950 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Cataract, Corneal opacity, Chorioretinal coloboma, Microphthalmia, Posterior embryotoxon, Iris co... |
ORPHA:1473 |
Galactosemia Ii |
|
Cataract |
OMIM:230200 |
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Microphthalmia, Cataract, Iris coloboma, Chorioretinal coloboma |
OMIM:120433 |
Central Cloudy Dystrophy Of Francois |
|
Central corneal dystrophy, Corneal dystrophy |
OMIM:217600 |
Schnyder Corneal Dystrophy |
|
Corneal dystrophy, Crystalline corneal dystrophy |
OMIM:121800 |
Cataract 49 |
|
Posterior cortical cataract |
OMIM:619593 |
Bilateral Striopallidodentate Calcinosis |
|
Corneal opacity |
ORPHA:1980 |
Chorea, Remitting, With Nystagmus And Cataract |
|
Cataract |
OMIM:601372 |
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay |
|
Cataract, Developmental cataract |
OMIM:613076 |
Microphthalmia, Isolated, With Coloboma 7 |
|
Microphthalmia, Iris coloboma, Inferior chorioretinal coloboma |
OMIM:614497 |
Hypoalphalipoproteinemia, Primary, 2 |
|
Corneal arcus, Cataract |
OMIM:618463 |
Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Microcornea, Microphthalmia, Cataract |
ORPHA:2528 |
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome |
|
Hypoplasia of the iris, Anterior synechiae of the anterior chamber, Ocular anterior segment dysge... |
OMIM:614195 |
Foveal Hypoplasia 2 |
|
Hypoplasia of the fovea, Astigmatism, Axenfeld anomaly, Microphthalmia, Posterior embryotoxon |
OMIM:609218 |
Congenital Varicella Syndrome |
|
Microphthalmia, Cataract |
ORPHA:291 |
Spastic Paraparesis-Deafness Syndrome |
|
Cataract |
ORPHA:2815 |
Exfoliation Syndrome |
|
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab... |
OMIM:177650 |
Nathalie Syndrome |
|
Abnormal EKG, Cataract |
OMIM:255990 |
Aniridia And Absent Patella |
|
Aniridia, Cataract |
OMIM:106220 |
Peroxisome Biogenesis Disorder 10A (Zellweger) |
|
Cataract |
OMIM:614882 |
Retinal Dystrophy And Iris Coloboma With Or Without Cataract |
|
Posterior synechiae of the anterior chamber, Iris coloboma, Developmental cataract |
OMIM:616722 |
Aniridia 1 |
|
Hypoplasia of the fovea, Anterior subcapsular cataract, Cataract, Optic nerve hypoplasia, Ectopia... |
OMIM:106210 |
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma |
|
Iridodonesis, Ectopia lentis, Microspherophakia, Deep anterior chamber, Buphthalmos, Megalocornea |
OMIM:251750 |
Dermochondrocorneal Dystrophy |
|
Subepithelial corneal opacities, Corneal dystrophy, Anterior cortical cataract |
OMIM:221800 |
Stickler Syndrome Type 2 |
|
Cataract, Corneal opacity |
ORPHA:90654 |
Ring Dermoid Of Cornea |
|
Corneal astigmatism, Abnormal corneal limbus morphology, Abnormal cornea morphology, Abnormal con... |
OMIM:180550 |
Corneal Dystrophy, Punctiform And Polychromatic Pre-Descemet |
|
Posterior corneal stroma punctiform multicolored opacities |
OMIM:619871 |
Norrie Disease |
|
Cataract, Corneal opacity, Leukocoria, Hypoplasia of the iris, Buphthalmos, Shallow anterior cham... |
OMIM:310600 |
Autosomal Recessive Spastic Paraplegia Type 69 |
|
Cataract, Hand tremor |
ORPHA:401830 |
Gms Syndrome |
|
Rieger anomaly, Tricuspid regurgitation |
ORPHA:2090 |
Microphthalmia, Isolated 2 |
|
Microphthalmia, Opacification of the corneal stroma |
OMIM:610093 |
Chromosome 11P13 Deletion Syndrome, Distal |
|
Aniridia |
OMIM:616902 |
Cataract 16, Multiple Types |
|
Posterior polar cataract, Lenticonus, Developmental cataract |
OMIM:613763 |
Microphthalmia, Syndromic 13 |
|
Microcornea, Microphthalmia, Iris coloboma, Chorioretinal coloboma |
OMIM:300915 |
Oculoauricular Syndrome |
|
Cataract, Sclerocornea, Phthisis bulbi, Chorioretinal atrophy, Nasolacrimal duct obstruction, Dev... |
OMIM:612109 |
Spinocerebellar Degeneration And Corneal Dystrophy |
|
Corneal stromal edema, Corneal dystrophy, Opacification of the corneal stroma |
OMIM:271310 |
Weill-Marchesani Syndrome 4 |
|
Iridodonesis, Ectopia lentis, Shallow anterior chamber, Posterior synechiae of the anterior chamb... |
OMIM:613195 |
Macular Dystrophy, Corneal |
|
Punctate opacification of the cornea, Corneal dystrophy, Recurrent corneal erosions |
OMIM:217800 |
Weill-Marchesani Syndrome 3 |
|
Ectopia lentis, Microspherophakia, Shallow anterior chamber, Pulmonic stenosis, Aortic valve sten... |
OMIM:614819 |
Megalocornea |
|
Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d... |
OMIM:309300 |
Cataract-Nephropathy-Encephalopathy Syndrome |
|
Cataract |
ORPHA:1380 |
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Coloboma, Peters anomaly, Microphthalmia, Ocular anterior segment dysgenesis, Iris coloboma |
OMIM:610023 |
X-Linked Endothelial Corneal Dystrophy |
|
Abnormal corneal endothelium morphology, Nuclear cataract, Corneal opacity, Band keratopathy |
ORPHA:293621 |
Bardet-Biedl Syndrome 18 |
|
Cataract |
OMIM:615995 |
WAGR 11p13 deletion syndrome |
|
Aniridia |
DECIPHER:35 |
Corneal Dystrophy And Perceptive Deafness |
|
Corneal dystrophy, Opacification of the corneal stroma |
OMIM:217400 |
Axenfeld-Rieger Syndrome, Type 3 |
|
Hypoplasia of the iris, Posterior embryotoxon, Ectopia pupillae, Posterior synechiae of the anter... |
OMIM:602482 |
Microphthalmia, Isolated 6 |
|
Microcornea, Microphthalmia |
OMIM:613517 |
Cataract 40 |
|
Nuclear cataract, Sutural cataract |
OMIM:302200 |
Xeroderma Pigmentosum, Complementation Group D |
|
Cataract, Keratitis, Telangiectasia, Choreoathetosis, Keratoconjunctivitis sicca, Conjunctivitis,... |
OMIM:278730 |
Iris Pigment Layer, Cleavage Of |
|
Cataract |
OMIM:147610 |
Wagr Syndrome |
|
Aplasia/Hypoplasia of the iris, Cataract |
ORPHA:893 |
Cataract-Hypertrichosis-Intellectual Disability Syndrome |
|
Developmental cataract |
ORPHA:1375 |
Spastic Ataxia-Corneal Dystrophy Syndrome |
|
Corneal dystrophy, Developmental cataract |
ORPHA:2572 |
Microcephaly, Cataracts, Impaired Intellectual Development, And Dystonia With Abnormal Striatum |
|
Dystonia, Developmental cataract |
OMIM:618284 |
Woolly Hair |
|
Abnormal pupil morphology, Cataract |
ORPHA:170 |
2Q24 Microdeletion Syndrome |
|
Microphthalmia, Coloboma, Cataract, Abnormality iris morphology |
ORPHA:1617 |
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism |
|
Cataract |
OMIM:254000 |
Thiel-Behnke Corneal Dystrophy |
|
Subepithelial corneal opacities, Astigmatism, Central corneal dystrophy, Recurrent corneal erosio... |
ORPHA:98960 |
Glaucoma 1, Open Angle, A |
|
Abnormal iris vasculature |
OMIM:137750 |
Retinitis Pigmentosa 86 |
|
Cortical cataract |
OMIM:618613 |
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome |
|
Cataract |
ORPHA:2278 |
Microphthalmia, Isolated, With Coloboma 5 |
|
Anophthalmia, Bilateral microphthalmos, Chorioretinal coloboma, Microphthalmia, Iris coloboma |
OMIM:611638 |
Keratitis, Hereditary |
|
Keratitis, Opacification of the corneal stroma |
OMIM:148190 |
Spondylo-Ocular Syndrome |
|
Cataract, Microphthalmia, Aplasia/Hypoplasia of the lens, Iris hypopigmentation |
ORPHA:85194 |
Charcot-Marie-Tooth Disease Type 1B |
|
Abnormal pupil morphology |
ORPHA:101082 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3 |
|
Cataract |
OMIM:609115 |
Ectopia Lentis Et Pupillae |
|
Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Persistent pupillary m... |
OMIM:225200 |
Familial Pterygium Of The Conjunctiva |
|
Opacification of the corneal stroma |
ORPHA:2989 |
Intellectual Developmental Disorder With Poor Growth And With Or Without Seizures Or Ataxia |
|
Developmental cataract |
OMIM:618808 |
Corneal Dystrophy, Lattice Type Iiia |
|
Corneal erosion, Lattice corneal dystrophy |
OMIM:608471 |
Aniridia, Partial, With Unilateral Renal Agenesis And Psychomotor Retardation |
|
Aniridia, Developmental glaucoma |
OMIM:206750 |
Nance-Horan Syndrome |
|
Microcornea, Microphthalmia, Posterior Y-sutural cataract, Developmental cataract |
OMIM:302350 |
Deaf Blind Hypopigmentation Syndrome, Yemenite Type |
|
Microcornea, Anterior synechiae of the anterior chamber, Iris coloboma, Iris hypopigmentation |
ORPHA:3214 |
Corneal Dystrophy, Posterior Amorphous |
|
Ectopia pupillae, Iris coloboma, Corneal dystrophy |
OMIM:612868 |
Isolated Ectopia Lentis |
|
Hypertension, Ectopia pupillae, Cataract, Ectopia lentis |
ORPHA:1885 |
Waardenburg Syndrome, Type 2A |
|
Hypoplastic iris stroma, Heterochromia iridis |
OMIM:193510 |
Aniridia-Cerebellar Ataxia-Intellectual Disability Syndrome |
|
Aniridia |
ORPHA:1065 |
Atopic Keratoconjunctivitis |
|
Corneal opacity, Keratitis, Keratoconjunctivitis sicca, Chemosis, Corneal neovascularization |
ORPHA:163934 |
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Remnants of the hyaloid vascular system, Microcornea, Posterior lenticonus, Chorioretinal colobom... |
ORPHA:231736 |
Gillespie Syndrome |
|
Hypoplasia of the iris, Aniridia |
OMIM:206700 |
Corneal Dystrophy, Fuchs Endothelial, 3 |
|
Corneal stromal edema, Corneal opacity, Corneal guttata |
OMIM:613267 |
Optic Atrophy 10 With Or Without Ataxia, Impaired Intellectual Development, And Seizures |
|
Cerulean cataract |
OMIM:616732 |
Leukoencephalopathy With Vanishing White Matter 2 |
|
Cataract |
OMIM:620312 |
Cornea Plana 2, Autosomal Recessive |
|
Flat cornea, Corneal opacity, Sclerocornea, Corneal arcus, Decreased corneal thickness, Microphth... |
OMIM:217300 |
Cataract-Deafness-Hypogonadism Syndrome |
|
Developmental cataract |
ORPHA:1383 |
Myopathy, Tubular Aggregate, 1 |
|
Abnormal pupil morphology |
OMIM:160565 |
Gómez-López-Hernández Syndrome |
|
Corneal opacity |
ORPHA:1532 |
Lattice Corneal Dystrophy Type I |
|
Subepithelial corneal opacities, Corneal opacity, Central opacification of the cornea, Corneal sc... |
ORPHA:98964 |
Aniridia-Absent Patella Syndrome |
|
Aniridia, Cataract |
ORPHA:1069 |
Congenital Microcoria |
|
Developmental cataract, Corneal stromal edema, Iris transillumination defect, Nuclear cataract, A... |
ORPHA:566 |
Corneal Dystrophy, Posterior Polymorphous, 3 |
|
Keratoconus, Ectopia pupillae, Corneal dystrophy, Corneal guttata |
OMIM:609141 |
Cataract 47 |
|
Microcornea, Cataract |
OMIM:612018 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type |
|
Cataract |
OMIM:300261 |
Exudative Vitreoretinopathy 6 |
|
Nuclear cataract, Cataract, Cortical cataract |
OMIM:616468 |
Kahrizi Syndrome |
|
Cataract, Iris coloboma |
OMIM:612713 |
X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Cataract |
ORPHA:85288 |
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Microphthalmia, Ocular anterior segment dysgenesis, Coloboma, Developmental cataract |
ORPHA:324416 |
Corneal Dystrophy, Gelatinous Drop-Like |
|
Corneal dystrophy |
OMIM:204870 |
Leber Congenital Amaurosis 7 |
|
Keratoconus, Cataract |
OMIM:613829 |
Loose Anagen Syndrome |
|
Iris coloboma |
ORPHA:168 |
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Corneal opacity, Dilated cardiomyopathy, Developmental cataract, Bradycardia, Hypertrophic cardio... |
OMIM:618815 |
Immunodeficiency 10 |
|
Hypoplasia of the iris |
OMIM:612783 |
Retinitis Pigmentosa 40 |
|
Cataract |
OMIM:613801 |
Developmental And Epileptic Encephalopathy 35 |
|
Cardiomyopathy, Cataract, Limb tremor |
OMIM:616647 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Cataract, Corneal opacity, Remnants of the hyaloid vascular system, Hyphema, Leukocoria, Uveitis,... |
OMIM:221900 |
Spastic Paraplegia 64, Autosomal Recessive |
|
Developmental cataract |
OMIM:615683 |
Leg, Absence Deformity Of, With Congenital Cataract |
|
Progressive cataract, Developmental cataract |
OMIM:246000 |
Hypomyelination-Congenital Cataract Syndrome |
|
Developmental cataract |
ORPHA:85163 |
Corneal Dystrophy, Fleck |
|
Speckled corneal dystrophy |
OMIM:121850 |
Yemenite Deaf-Blind Hypopigmentation Syndrome |
|
Microcornea, Iris coloboma, Chorioretinal coloboma |
OMIM:601706 |
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome |
|
Hypertrophic cardiomyopathy, Cataract, Corneal dystrophy |
ORPHA:1369 |
Corneal Dystrophy, Reis-Bucklers Type |
|
Corneal erosion, Corneal opacity, Corneal dystrophy, Opacification of the corneal stroma |
OMIM:608470 |
Cataract 31, Multiple Types |
|
Posterior subcapsular cataract, Anterior subcapsular cataract, Nuclear cataract |
OMIM:605387 |
X-Linked Recessive Ocular Albinism |
|
Hypoplasia of the fovea, Abnormal pupil morphology, Ocular albinism, Astigmatism, Iris hypopigmen... |
ORPHA:54 |
D-Lactic Aciduria With Gout |
|
Aniridia |
OMIM:245450 |
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1 |
|
Microcornea, Cataract |
OMIM:619082 |
Hec Syndrome |
|
Cardiomyopathy, Abnormal pupil morphology, Arrhythmia, Developmental cataract |
ORPHA:2119 |
Distal Deletion 6P |
|
Posterior embryotoxon, Corneal opacity, Hypoplasia of the iris, Anterior synechiae of the anterio... |
ORPHA:96125 |
Keratoendotheliitis Fugax Hereditaria |
|
Keratitis, Conjunctival hyperemia, Opacification of the corneal stroma |
OMIM:148200 |
Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Cataract |
OMIM:614876 |
Absence Deformity Of Leg-Cataract Syndrome |
|
Cataract |
ORPHA:2310 |
Hemolytic Anemia Due To Glutathione Reductase Deficiency |
|
Cataract |
OMIM:618660 |
Uveal Melanoma |
|
Iris melanoma, Inferior lens subluxation, Vitreous hemorrhage, Zonular cataract, Ciliary body mel... |
ORPHA:39044 |
Microphthalmia, Syndromic 16 |
|
Microphthalmia, Anophthalmia, Sclerocornea |
OMIM:611038 |
Palmoplantar Carcinoma, Multiple Self-Healing |
|
Corneal neovascularization, Limbal stem cell deficiency |
OMIM:615225 |
Upper Limb Defect-Eye And Ear Abnormalities Syndrome |
|
Cataract, Chorioretinal coloboma |
ORPHA:2489 |
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Microphthalmia, Cataract, Retinal coloboma |
ORPHA:363741 |
Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Corneal opacity |
ORPHA:2370 |
Microphthalmia, Isolated 5 |
|
Microphthalmia, Cataract |
OMIM:611040 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Microcornea, Microphthalmia, Cataract |
OMIM:616171 |
N Syndrome |
|
Megalocornea |
ORPHA:2608 |
Corneal Dystrophy, Meesmann, 1 |
|
Punctate opacification of the cornea, Corneal dystrophy |
OMIM:122100 |
Hyperlysinemia, Type I |
|
Ectopia lentis |
OMIM:238700 |
Short Syndrome |
|
Posterior embryotoxon, Corneal opacity, Abnormal pupil morphology, Hypoplasia of the iris, Megalo... |
ORPHA:3163 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Microphthalmia, Cataract, Retinal coloboma |
OMIM:601794 |
Microphthalmia, Isolated, With Corectopia |
|
Microphthalmia, Ectopia pupillae |
OMIM:156900 |
Blue Cone Monochromatism |
|
Corneal dystrophy |
ORPHA:16 |
Mucolipidosis Iv |
|
Corneal opacity, Opacification of the corneal stroma, Dystonia |
OMIM:252650 |
Cahmr Syndrome |
|
Lamellar cataract |
OMIM:211770 |
Congenital Rubella Syndrome |
|
Aplasia/Hypoplasia of the iris, Microphthalmia, Cataract, Corneal opacity |
ORPHA:290 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Rieger anomaly, Abnormally prominent line of Schwalbe |
OMIM:109120 |
Mucolipidosis Type Iii |
|
Corneal opacity |
ORPHA:577 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Microphthalmia, Cataract, Chorioretinal dysplasia |
OMIM:251270 |
Deafness, Autosomal Recessive 108 |
|
Iris coloboma |
OMIM:617654 |
Leber Congenital Amaurosis 6 |
|
Keratoconus, Cataract |
OMIM:613826 |
Fuchs Heterochromic Iridocyclitis |
|
Anterior chamber inflammatory cells, Iris atrophy, Cataract, Anisocoria, Posterior synechiae of t... |
ORPHA:263479 |
Otodental Syndrome |
|
Cataract, Lens coloboma, Microcornea, Retinal coloboma, Microphthalmia, Iris coloboma |
ORPHA:2791 |
Axenfeld-Rieger Syndrome |
|
Aplasia/Hypoplasia of the iris, Posterior embryotoxon, Abnormal anterior chamber morphology |
ORPHA:782 |
Proximal Myotonic Myopathy |
|
Cataract |
ORPHA:606 |
Persistent Hyperplastic Primary Vitreous |
|
Glial remnants anterior to the optic disc, Cataract, Corneal opacity, Hyaloid vascular remnant an... |
ORPHA:91495 |
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Cataract, Corneal scarring, Buphthalmos, Chorioretinal coloboma, Microphthalmia, Iris coloboma |
OMIM:212550 |
Myopia 17, Autosomal Dominant |
|
Presenile cataracts |
OMIM:608367 |
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 |
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:85275 |
Pellagra-Like Syndrome |
|
Cataract |
OMIM:260650 |
Thanatophoric Dysplasia, Glasgow Variant |
|
Cataract |
OMIM:273680 |
Wagner Vitreoretinopathy |
|
Cataract, Chorioretinal atrophy |
OMIM:143200 |
Cataract 48 |
|
Cataract |
OMIM:618415 |
Microphthalmia With Brain And Digit Anomalies |
|
Cataract, Anophthalmia, Sclerocornea, Microcornea, Chorioretinal coloboma, Microphthalmia, Iris c... |
ORPHA:139471 |
Congenital Hereditary Endothelial Dystrophy Type Ii |
|
Increased corneal thickness, Corneal opacity, Abnormal Descemet membrane morphology, Irregular as... |
ORPHA:293603 |
Cardiomyopathy, Dilated, 1Ii |
|
Increased left ventricular end-diastolic volume, Cataract, Dilated cardiomyopathy, Ventricular ta... |
OMIM:615184 |
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome |
|
Cataract |
OMIM:610156 |
Corneal Dystrophy, Congenital Stromal |
|
Band-shaped corneal dystrophy, Corneal erosion, Increased corneal thickness, Corneal dystrophy |
OMIM:610048 |
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts |
|
Cataract |
OMIM:183800 |
Biemond Syndrome Ii |
|
Iris coloboma |
OMIM:210350 |
Scheie Syndrome |
|
Aortic regurgitation, Aortic valve stenosis, Corneal opacity |
OMIM:607016 |
Axenfeld-Rieger Syndrome, Type 1 |
|
Rieger anomaly, Polycoria, Microcornea, Hypoplasia of the iris, Ectopia pupillae, Aniridia, Megal... |
OMIM:180500 |
Cataract 23, Multiple Types |
|
Lamellar cataract |
OMIM:610425 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Keratoconjunctivitis sicca, Uveitis, Corneal neovascularization, Punctate keratitis |
OMIM:617388 |
Corneal Dystrophy, Fuchs Endothelial, 1 |
|
Corneal dystrophy, Corneal stromal edema, Corneal guttata, Corneal degeneration, Descemet Membran... |
OMIM:136800 |
Glaucoma 3, Primary Congenital, E |
|
Corneal stromal edema, Megalocornea |
OMIM:617272 |
Amoebic Keratitis |
|
Iris atrophy, Anterior uveitis, Cataract, Abnormal corneal epithelium morphology, Abnormal anteri... |
ORPHA:67043 |
Bartsocas-Papas Syndrome 2 |
|
Corneal opacity, Antecubital pterygium, Popliteal pterygium, Microphthalmia, Axillary pterygium |
OMIM:619339 |
Megalocornea-Intellectual Disability Syndrome |
|
Iridodonesis, Hypoplasia of the iris, Astigmatism, Megalocornea, Abnormal anterior chamber morpho... |
ORPHA:2479 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Microcornea, Microphthalmia, Cataract, Intention tremor |
ORPHA:48431 |
Alexander Disease |
|
Microcoria |
OMIM:203450 |
Retinitis Pigmentosa 9 |
|
Cataract |
OMIM:180104 |
X-Linked Intellectual Disability-Retinitis Pigmentosa Syndrome |
|
Iris hypopigmentation |
ORPHA:85332 |
Woolly Hair Nevus |
|
Heterochromia iridis, Persistent pupillary membrane |
ORPHA:79414 |
Fish-Eye Disease |
|
Opacification of the corneal stroma |
OMIM:136120 |
Cataract-Aberrant Oral Frenula-Growth Delay Syndrome |
|
Cataract |
ORPHA:1373 |
Galactose Epimerase Deficiency |
|
Cataract |
ORPHA:79238 |
Mucoepithelial Dysplasia, Hereditary |
|
Cataract, Keratoconjunctivitis, Melena, Opacification of the corneal stroma, Corneal neovasculari... |
OMIM:158310 |
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Cataract |
ORPHA:1875 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Cataract, Anophthalmia, Sclerocornea, Microcornea, Coloboma, Ectopia pupillae, Microphthalmia |
OMIM:615877 |
Coloboma, Ocular, Autosomal Dominant |
|
Optic nerve aplasia, Remnants of the hyaloid vascular system, Corneal opacity, Optic disc colobom... |
OMIM:120200 |
Blepharoptosis, Myopia, And Ectopia Lentis |
|
Increased axial length of the globe, Ectopia lentis |
OMIM:110150 |
Cochleosaccular Degeneration-Cataract Syndrome |
|
Cataract |
ORPHA:3233 |
Unilateral Ocular Duplication |
|
Microcornea, Abnormal pupil morphology, Iris coloboma |
ORPHA:3374 |
Erythrokeratodermia Variabilis |
|
Cataract, Corneal opacity |
ORPHA:317 |
X-Linked Immunoneurologic Disorder |
|
Cataract |
ORPHA:2571 |
Morm Syndrome |
|
Cataract |
ORPHA:75858 |
Fuchs Endothelial Corneal Dystrophy |
|
Abnormal corneal endothelium morphology, Reduced number of corneal endothelial cells, Abnormal De... |
ORPHA:98974 |
Usher Syndrome Type 3 |
|
Cataract, Astigmatism, Iris hypopigmentation |
ORPHA:231183 |
Isolated Split Hand-Split Foot Malformation |
|
Aniridia |
ORPHA:2440 |
Chromosome 16Q12 Duplication Syndrome |
|
Anisocoria, Cataract |
OMIM:619649 |
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of |
|
Cardiomyopathy, Sutural cataract |
OMIM:201470 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14 |
|
Cardiomyopathy, Cataract |
OMIM:615352 |
Xp22.3 Microdeletion Syndrome |
|
Aplasia/Hypoplasia affecting the eye, Opacification of the corneal stroma |
ORPHA:1643 |
Nail-Patella Syndrome |
|
Keratoconus, Cataract, Antecubital pterygium, Microcornea, Microphakia, Lester's sign |
OMIM:161200 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Microphthalmia, Coloboma, Cataract, Corneal opacity |
OMIM:613153 |
Hirschsprung Disease-Ganglioneuroblastoma Syndrome |
|
Prolonged QT interval, Abnormal pupil morphology, Arrhythmia |
ORPHA:2151 |
Peroxisome Biogenesis Disorder 2B |
|
Polar cataract |
OMIM:202370 |
Cat-Eye Syndrome |
|
Microphthalmia, Iris coloboma, Chorioretinal coloboma |
ORPHA:195 |
Cofs Syndrome |
|
Microphthalmia, Cataract |
ORPHA:1466 |
Oculopalatocerebral Syndrome |
|
Microphthalmia, Remnants of the hyaloid vascular system, Leukocoria |
OMIM:257910 |
Peroxisome Biogenesis Disorder 11B |
|
Cataract |
OMIM:614885 |
Intermediate Uveitis |
|
Anterior uveitis, Cataract, Band keratopathy, Vasculitis, Posterior synechiae of the anterior cha... |
ORPHA:279914 |
Leber Congenital Amaurosis 16 |
|
Cataract |
OMIM:614186 |
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation |
|
Cataract |
OMIM:608227 |
Idiopathic Panuveitis |
|
Conjunctival hyperemia, Cataract, Choroidal neovascularization, Posterior synechiae of the anteri... |
ORPHA:280921 |
Intellectual Developmental Disorder, Autosomal Recessive 50 |
|
Heterochromia iridis |
OMIM:616460 |
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
|
Cataract, Corneal opacity, Chorioretinal dysplasia, Chorioretinal lacunae, Myopic astigmatism, Mi... |
OMIM:152950 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Microphthalmia, Cataract |
OMIM:613730 |
Corneal Dystrophy, Fuchs Endothelial, 2 |
|
Corneal degeneration, Corneal dystrophy, Corneal guttata |
OMIM:610158 |
Microphthalmia, Isolated, With Coloboma 9 |
|
Macular coloboma, Sclerocornea, Microcornea, Microphthalmia, Ocular anterior segment dysgenesis, ... |
OMIM:615145 |
Microphthalmia, Isolated 1 |
|
Microphthalmia, Anophthalmia |
OMIM:251600 |
Microphthalmia, Syndromic 8 |
|
Microcornea, Microphthalmia |
OMIM:601349 |
Cataract, Congenital, With Mental Impairment And Dentate Gyrus Atrophy |
|
Developmental cataract |
OMIM:607674 |
Pierson Syndrome |
|
Rieger anomaly, Cataract, Hypoplasia of the ciliary body, Remnants of the hyaloid vascular system... |
OMIM:609049 |
Nance-Horan Syndrome |
|
Microcornea, Microphthalmia, Cataract |
ORPHA:627 |
Hypogonadism-Cataract Syndrome |
|
Cataract |
OMIM:240950 |
Neuhauser Syndrome |
|
Hypoplasia of the iris, Iridodonesis, Megalocornea |
OMIM:249310 |
Corneal Dystrophy, Posterior Polymorphous, 4 |
|
Ectopia pupillae |
OMIM:618031 |
Hurler-Scheie Syndrome |
|
Cardiomyopathy, Corneal opacity |
ORPHA:93476 |
Corneal Dystrophy, Fuchs Endothelial, 4 |
|
Corneal dystrophy, Corneal guttata |
OMIM:613268 |
Epithelial Recurrent Erosion Dystrophy |
|
Corneal erosion |
OMIM:122400 |
Intestinal Dysmotility Syndrome |
|
Cataract |
OMIM:620045 |
3-Methylglutaconic Aciduria Type 4 |
|
Cardiomyopathy, Cataract, Iris hypopigmentation |
ORPHA:67048 |
Harel-Yoon Syndrome |
|
Hypertrophic cardiomyopathy, Dystonia, Corneal opacity, Developmental cataract |
OMIM:617183 |
Peroxisomal Fatty Acyl-Coa Reductase 1 Disorder |
|
Cataract |
OMIM:616154 |
Sveinsson Chorioretinal Atrophy |
|
Peripapillary chorioretinal atrophy, Astigmatism |
OMIM:108985 |
Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
Phacoanaphylactic Uveitis |
|
Anterior uveitis, Keratitis, Abnormal pupil morphology, Abnormal corneal endothelium morphology, ... |
ORPHA:209959 |
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome |
|
Aniridia, Developmental glaucoma, Corneal opacity |
ORPHA:1064 |
Spondyloepiphyseal Dysplasia, Kondo-Fu Type |
|
Cataract |
OMIM:618392 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Dystonia, Corneal opacity, Cerebral hemorrhage, Polycoria, Retinal hemorrhage, Developmental cata... |
OMIM:175780 |
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome |
|
Cataract, Pulmonary embolism, Congestive heart failure, Hypertension, Hypertrophic cardiomyopathy... |
ORPHA:1345 |
Adult-Onset Multiple Mitochondrial Dna Deletion Syndrome Due To Dguok Deficiency |
|
Cataract |
ORPHA:329314 |
Chondrodysplasia-Difference Of Sex Development Syndrome |
|
Hypoplasia of the iris, Chorioretinal coloboma |
ORPHA:1422 |
Lissencephaly 8 |
|
Microphthalmia, Cataract |
OMIM:617255 |
Myopia 28, Autosomal Recessive |
|
Cataract |
OMIM:619781 |
1Q21.1 Microduplication Syndrome |
|
Cataract |
ORPHA:250994 |
Nephroblastoma |
|
Aniridia, Hypertension |
ORPHA:654 |
Ichthyosis, X-Linked |
|
Opacification of the corneal stroma |
OMIM:308100 |
Leber Congenital Amaurosis 8 |
|
Keratoconus, Cataract, Macular coloboma, Chorioretinal atrophy, Choriocapillaris atrophy |
OMIM:613835 |
Dilution, Pigmentary |
|
Iris hypopigmentation |
OMIM:126070 |
Fish-Eye Disease |
|
Angina pectoris, Corneal opacity |
ORPHA:79292 |
Combined Oxidative Phosphorylation Deficiency 13 |
|
Choreoathetosis, Cataract, Dystonia |
OMIM:614932 |
Cataract-Ataxia-Deafness Syndrome |
|
Tremor, Developmental cataract |
ORPHA:1368 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Abnormal left ventricular function, Microphthalmia, Cardiomyopathy, Developmental cataract |
OMIM:613155 |
Ophthalmoplegia, Familial Static |
|
Anisocoria |
OMIM:165000 |
Galactose Mutarotase Deficiency |
|
Cataract |
ORPHA:570422 |
Retinitis Pigmentosa 84 |
|
Cataract, Macular coloboma |
OMIM:618220 |
Developmental Delay With Variable Neurologic And Brain Abnormalities |
|
Microphthalmia, Astigmatism, Cataract |
OMIM:619694 |
Sialidosis Type 2 |
|
Tremor, Corneal opacity |
ORPHA:87876 |
Intellectual Developmental Disorder, Autosomal Recessive 3 |
|
Short attention span, Hyperactivity |
OMIM:608443 |
Rutherfurd Syndrome |
|
Corneal dystrophy, Opacification of the corneal stroma |
OMIM:180900 |
Encephalocraniocutaneous Lipomatosis |
|
Hypoplasia of the iris, Limbal dermoid, Microphthalmia, Sclerocornea |
OMIM:613001 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Microphthalmia, Cataract, Reduced systolic function, Dilated cardiomyopathy |
OMIM:618805 |
Microcephaly-Brachydactyly-Kyphoscoliosis Syndrome |
|
Cataract |
ORPHA:3433 |
Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Short attention span, Hyperactivity |
DECIPHER:19 |
Corneal Dystrophy, Fuchs Endothelial, 8 |
|
Corneal dystrophy, Corneal guttata |
OMIM:615523 |
Myopia, High, With Cataract And Vitreoretinal Degeneration |
|
Cataract, Lens subluxation |
OMIM:614292 |
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Cataract, Microcornea, Iris transillumination defect, Coloboma, Microphthalmia |
OMIM:617306 |
Nivelon-Nivelon-Mabille Syndrome |
|
Hypoplasia of the iris, Optic disc coloboma |
OMIM:600092 |
Achromatopsia 3 |
|
Cataract |
OMIM:262300 |
Vitreoretinochoroidopathy |
|
Retinal detachment, Retinal arteriolar occlusion, Pulverulent cataract, Developmental cataract, M... |
OMIM:193220 |
Rodrigues Blindness |
|
Microcornea, Microphthalmia, Sclerocornea |
OMIM:268320 |
Schwannomatosis, Vestibular |
|
Juvenile posterior subcapsular lenticular opacities, Cortical cataract |
OMIM:101000 |
Corneal Dystrophy, Fuchs Endothelial, 6 |
|
Corneal dystrophy, Keratitis, Abnormal Descemet membrane morphology, Corneal stromal edema, Corne... |
OMIM:613270 |
Stickler Syndrome, Type V |
|
Cataract |
OMIM:614284 |
Familial Apolipoprotein Gene Cluster Deletion Syndrome |
|
Corneal arcus |
OMIM:620058 |
Developmental And Epileptic Encephalopathy 73 |
|
Cataract |
OMIM:618379 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Microphthalmia, Cataract, Optic nerve hypoplasia |
OMIM:615181 |
Ophthalmomandibulomelic Dysplasia |
|
Megalocornea, Corneal opacity |
ORPHA:2741 |
Martsolf Syndrome 2 |
|
Cataract, Developmental cataract |
OMIM:619420 |
Insulinomatosis And Diabetes Mellitus |
|
Developmental glaucoma, Developmental cataract |
OMIM:147630 |
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination |
|
Cataract |
OMIM:617393 |
Epithelial Recurrent Erosion Dystrophy |
|
Subepithelial corneal opacities, Corneal dystrophy, Irregular astigmatism, Corneal scarring, Kera... |
ORPHA:293381 |
Hereditary Bullous Dystrophy, Macular Type |
|
Cataract, Corneal opacity, Heart murmur |
ORPHA:1867 |
Oculocutaneous Albinism Type 6 |
|
Abnormal iris pigmentation, Aplasia/Hypoplasia of the macula |
ORPHA:370097 |
Granular Corneal Dystrophy Type Ii |
|
Subepithelial corneal opacities, Central opacification of the cornea, Recurrent corneal erosions,... |
ORPHA:98963 |
Albinism, Oculocutaneous, Type Iv |
|
Macular hypoplasia, Blue irides |
OMIM:606574 |
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability |
|
Cataract |
OMIM:617404 |
Cerebrooculofacioskeletal Syndrome 2 |
|
Microphthalmia, Cataract, Developmental cataract |
OMIM:610756 |
Microphthalmia, Syndromic 5 |
|
Cataract, Anophthalmia, Optic nerve hypoplasia, Microcornea, Coloboma, Microphthalmia |
OMIM:610125 |
Microphthalmia, Syndromic 12 |
|
Microphthalmia, Anophthalmia, Bicornuate uterus, Cryptorchidism |
OMIM:615524 |
Leber Congenital Amaurosis 2 |
|
Keratoconus, Cataract |
OMIM:204100 |
Retinitis Pigmentosa 4 |
|
Cataract |
OMIM:613731 |
Aortic Aneurysm, Familial Thoracic 4 |
|
Aortic regurgitation, Cystic medial necrosis, Anterior cerebral artery stenosis, Posterior cerebr... |
OMIM:132900 |
Myopathy, Distal, 7, Adult-Onset, X-Linked |
|
Cardiomyopathy, Cataract |
OMIM:301075 |
Waardenburg Syndrome, Type 2B |
|
Heterochromia iridis |
OMIM:600193 |
Temtamy Syndrome |
|
Microphthalmia, Iris coloboma, Chorioretinal coloboma |
ORPHA:1777 |
Autosomal Recessive Spastic Paraplegia Type 26 |
|
Cataract, Dystonia |
ORPHA:101006 |
Brachyolmia Type 1, Toledo Type |
|
Opacification of the corneal stroma |
OMIM:271630 |
Granular Corneal Dystrophy Type I |
|
Subepithelial corneal opacities, Abnormal corneal epithelium morphology, Central opacification of... |
ORPHA:98962 |
Usher Syndrome Type 1 |
|
Cataract, Iris hypopigmentation |
ORPHA:231169 |
Waardenburg Syndrome, Type 2E |
|
Ocular albinism, Blue irides, Hypoplasia of the iris, Heterochromia iridis, Iris hypopigmentation |
OMIM:611584 |
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type |
|
Cataract |
ORPHA:85172 |
Corneal Endothelial Dystrophy |
|
Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat... |
OMIM:217700 |
Maternally-Inherited Diabetes And Deafness |
|
Cataract, Abnormal chorioretinal morphology, Congestive heart failure, Hypertension, Arrhythmia, ... |
ORPHA:225 |
Tietz Albinism-Deafness Syndrome |
|
Blue irides, Heterochromia iridis |
OMIM:103500 |
Familial Exudative Vitreoretinopathy |
|
Macular exudate, Macular telangiectasia, Cataract, Peripheral retinal avascularization, Rhegmatog... |
ORPHA:891 |
Griscelli Syndrome Type 3 |
|
Iris hypopigmentation |
ORPHA:79478 |
Cone-Rod Dystrophy 16 |
|
Cataract |
OMIM:614500 |
Multicentric Carpotarsal Osteolysis Syndrome |
|
Hypertension, Corneal opacity |
OMIM:166300 |
Brittle Cornea Syndrome 2 |
|
Keratoconus, Flat cornea, Sclerocornea, Keratoglobus, Decreased corneal thickness, Corneal perfor... |
OMIM:614170 |
Microphthalmia, Isolated 4 |
|
Microphthalmia, Absent testis |
OMIM:613094 |
Ectodermal Dysplasia-Blindness Syndrome |
|
Cataract, Corneal dystrophy, Sclerocornea, Microcornea, Keratoconjunctivitis sicca, Microphthalmia |
ORPHA:1806 |
Oculomaxillofacial Dysostosis |
|
Aplasia/Hypoplasia affecting the eye, Corneal opacity |
ORPHA:1794 |
Linear Verrucous Nevus Syndrome |
|
Abnormal cornea morphology, Cataract, Iris coloboma, Aplasia/Hypoplasia of the fovea |
ORPHA:2611 |
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Microphthalmia, Ectopia pupillae, Astigmatism, Cataract |
OMIM:618727 |
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome |
|
Microcornea, Iris coloboma |
OMIM:615147 |
Severe Neurodevelopmental Disorder With Feeding Difficulties-Stereotypic Hand Movement-Bilateral Cataract |
|
Juvenile cataract |
ORPHA:500545 |
Retinitis Pigmentosa 74 |
|
Posterior polar cataract |
OMIM:616562 |
Autosomal Recessive Spastic Paraplegia Type 25 |
|
Developmental glaucoma, Developmental cataract |
ORPHA:101005 |
Donnai-Barrow Syndrome |
|
Hypoplasia of the iris, Cataract, Iris coloboma |
OMIM:222448 |
Nanophthalmos 1 |
|
Bilateral microphthalmos |
OMIM:600165 |
Microphthalmia, Isolated 7 |
|
Microphthalmia |
OMIM:613704 |
Nanophthalmos 2 |
|
Microphthalmia |
OMIM:609549 |
Leber Congenital Amaurosis |
|
Keratoconus, Cataract |
ORPHA:65 |
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 1 |
|
Cataract, Intention tremor |
OMIM:224050 |
Pelvis-Shoulder Dysplasia |
|
Microphthalmia, Optic disc coloboma, Iris coloboma, Opacification of the corneal stroma |
OMIM:169550 |
Alpha-Methylacyl-Coa Racemase Deficiency |
|
Tremor, Cataract, Intention tremor |
OMIM:614307 |
Mevalonic Aciduria |
|
Cataract |
ORPHA:29 |
Gm1-Gangliosidosis, Type Iii |
|
Opacification of the corneal stroma, Dystonia |
OMIM:230650 |
Klippel-Feil Syndrome 3, Autosomal Dominant |
|
Iris coloboma, Chorioretinal coloboma |
OMIM:613702 |
Cat-Eye Syndrome (Type I) |
|
Iris coloboma |
DECIPHER:42 |
Vitreoretinal Degeneration, Snowflake Type |
|
Cataract, Corneal guttata |
OMIM:193230 |
Microcornea, Myopic Chorioretinal Atrophy, And Telecanthus |
|
Microcornea, Posterior subcapsular cataract, Chorioretinal degeneration |
OMIM:615458 |
Recessive X-Linked Ichthyosis |
|
Opacification of the corneal stroma |
ORPHA:461 |
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome |
|
Cataract |
OMIM:616108 |
Horner Syndrome, Congenital |
|
Heterochromia iridis |
OMIM:143000 |
Oculo-Palato-Cerebral Syndrome |
|
Microphthalmia, Cataract, Remnants of the hyaloid vascular system, Leukocoria |
ORPHA:2714 |
Warburg Micro Syndrome 1 |
|
Microcornea, Microphthalmia, Developmental cataract |
OMIM:600118 |
Dermatitis, Atopic |
|
Keratoconus, Cataract, Conjunctivitis |
OMIM:603165 |
Alg2-Cdg |
|
Cataract, Iris coloboma |
ORPHA:79326 |
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome |
|
Hypertrophic cardiomyopathy, Cataract, Corneal opacity, Optic nerve hypoplasia |
ORPHA:496790 |
Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome |
|
Developmental cataract |
ORPHA:330054 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Hypoplasia of the iris |
ORPHA:169090 |
Osteoporosis-Pseudoglioma Syndrome |
|
Microphthalmia, Corneal opacity |
ORPHA:2788 |
Temtamy Syndrome |
|
Aortic regurgitation, Highly arched eyebrow, Lens luxation, Ectopia lentis, Chorioretinal colobom... |
OMIM:218340 |
Ceroid Lipofuscinosis, Neuronal, 3 |
|
Cataract, Concentric hypertrophic cardiomyopathy |
OMIM:204200 |
Senior-Loken Syndrome |
|
Hypertension, Cataract |
ORPHA:3156 |
Oculocutaneous Albinism, Type Viii |
|
Hypoplasia of the fovea, Iris transillumination defect, Chorioretinal hypopigmentation |
OMIM:619165 |
Kleeblattschaedel |
|
Recurrent corneal erosions |
OMIM:148800 |
Macrophthalmia, Colobomatous, With Microcornea |
|
Flat cornea, Optic disc coloboma, Increased axial length of the globe, Microcornea, Shallow anter... |
OMIM:602499 |
Syndromic Recessive X-Linked Ichthyosis |
|
Corneal opacity |
ORPHA:281090 |
Supernumerary Nostril |
|
Microcornea, Developmental cataract |
ORPHA:141096 |
Weill-Marchesani Syndrome |
|
Cataract, Ectopia lentis, Mitral regurgitation, Pulmonic stenosis, Aortic valve stenosis |
ORPHA:3449 |
X-Linked Intellectual Disability, Miles-Carpenter Type |
|
Microcornea |
ORPHA:85283 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Cataract, Corneal opacity, Bilateral microphthalmos, Coloboma, Microphthalmia, Conjunctival hyper... |
ORPHA:2399 |
Coloboma, Ocular, Autosomal Recessive |
|
Cataract, Optic disc coloboma, Retinal coloboma, Lens subluxation, Iris coloboma |
OMIM:216820 |
Infantile Spasms-Broad Thumbs Syndrome |
|
Hypertrophic cardiomyopathy, Cataract |
ORPHA:3173 |
Generalized Eruptive Keratoacanthoma |
|
Abnormal cornea morphology, Keratoconjunctivitis sicca, Conjunctivitis |
ORPHA:411777 |
Herpes Simplex Virus Stromal Keratitis |
|
Keratitis, Deep anterior chamber, Herpetiform corneal ulceration, Corneal stromal edema, Corneal ... |
ORPHA:137599 |
Blepharoptosis-Myopia-Ectopia Lentis Syndrome |
|
Iris coloboma, Ectopia lentis |
ORPHA:1259 |
Cataracts, Spastic Paraparesis, And Speech Delay |
|
Cataract |
OMIM:619338 |
Alport Syndrome 3A, Autosomal Dominant |
|
Anterior polar cataract, Lenticonus |
OMIM:104200 |
Mietens Syndrome |
|
Microcornea, Cataract, Corneal opacity, Sclerocornea |
ORPHA:2557 |
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma |
|
Microphthalmia, Shallow anterior chamber |
OMIM:267760 |
Hypergonadotropic Hypogonadism-Cataract Syndrome |
|
Cataract |
ORPHA:2410 |
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia |
|
Cataract |
ORPHA:1366 |
Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Corneal opacity |
OMIM:618961 |
Proteus-Like Syndrome |
|
Limbal dermoid, Abnormal pupil morphology, Cataract, Heterochromia iridis |
ORPHA:2969 |
Flynn-Aird Syndrome |
|
Cataract |
OMIM:136300 |
Retinitis Pigmentosa 37 |
|
Posterior subcapsular cataract, Nuclear cataract |
OMIM:611131 |
Ectopia Pupillae |
|
Ectopia pupillae |
OMIM:129750 |
Trisomy 12P |
|
Aplasia/Hypoplasia of the iris, Aplasia/Hypoplasia affecting the eye |
ORPHA:1699 |
Corneal Dystrophy, Thiel-Behnke Type |
|
Corneal dystrophy, Corneal scarring, Juvenile epithelial corneal dystrophy |
OMIM:602082 |
Hypomelanosis Of Ito |
|
Cataract, Iris coloboma |
OMIM:300337 |
Hyperlipoproteinemia, Type Ii, And Deafness |
|
Corneal arcus |
OMIM:144300 |
Microcornea-Glaucoma-Absent Frontal Sinuses Syndrome |
|
Microcornea |
ORPHA:2536 |
Adult-Onset Foveomacular Vitelliform Dystrophy |
|
Choroideremia, Iris hypopigmentation |
ORPHA:99000 |
Stiff Skin Syndrome |
|
Cataract |
OMIM:184900 |
Frontofacionasal Dysplasia |
|
Cataract, Brushfield spots, Microcornea, Limbal dermoid, Microphthalmia, Iris coloboma |
ORPHA:1791 |
Sjogren-Larsson Syndrome |
|
Astigmatism, Opacification of the corneal epithelium |
OMIM:270200 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Microphthalmia, Cataract |
ORPHA:93267 |
Fatty Acyl-Coa Reductase 1 Deficiency |
|
Juvenile cataract |
ORPHA:438178 |
Baralle-Macken Syndrome |
|
Cataract, Dystonia |
OMIM:619255 |
Leber Congenital Amaurosis 1 |
|
Keratoconus, Cataract |
OMIM:204000 |
Coats Disease |
|
Leukocoria, Retinal telangiectasia |
OMIM:300216 |
Cutis Marmorata Telangiectatica Congenita |
|
Hypertension, Leukocoria, Telangiectasia |
OMIM:219250 |
Cerebral Amyloid Angiopathy, Itm2B-Related, 2 |
|
Posterior polar cataract |
OMIM:117300 |
Aortic Aneurysm, Familial Thoracic 6 |
|
Thoracic aortic aneurysm, Descending aortic dissection, Premature coronary artery atherosclerosis... |
OMIM:611788 |
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness |
|
Cataract |
OMIM:132450 |
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development |
|
Opacification of the corneal stroma |
OMIM:204850 |
Tyrosinemia Type 2 |
|
Tremor, Corneal opacity |
ORPHA:28378 |
Leukodystrophy, Hypomyelinating, 24 |
|
Cataract |
OMIM:619851 |
3Q29 Microduplication Syndrome |
|
Cataract, Sclerocornea, Aniridia, Microphthalmia, Iris coloboma |
ORPHA:251038 |
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome |
|
Aniridia |
OMIM:194072 |
Gyrate Atrophy Of Choroid And Retina |
|
Cataract, Chorioretinal degeneration, Chorioretinal hyperpigmentation, Chorioretinal atrophy, Sub... |
ORPHA:414 |
Short Syndrome |
|
Megalocornea, Astigmatism, Rieger anomaly, Cataract |
OMIM:269880 |
Neovascular Glaucoma |
|
Corneal stromal edema, Abnormal anterior chamber morphology, Abnormal uvea morphology, Iris neova... |
ORPHA:94058 |
Microtia-Eye Coloboma-Imperforation Of The Nasolacrimal Duct Syndrome |
|
Iris coloboma |
ORPHA:139450 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 14 |
|
Cataract |
OMIM:615350 |
Alpha-Mannosidosis |
|
Cataract, Corneal opacity |
ORPHA:61 |
Gombo Syndrome |
|
Microphthalmia, Delayed puberty |
OMIM:233270 |
Genetic Hyperferritinemia Without Iron Overload |
|
Cataract |
ORPHA:254704 |
Marfanoid Habitus With Situs Inversus |
|
Aortic regurgitation, Aortic root aneurysm, Lens subluxation, Pulmonic stenosis, Persistent left ... |
OMIM:609008 |
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia |
|
Keratitis, Conjunctivitis, Corneal opacity |
OMIM:602562 |
Deafness, Congenital Heart Defects, And Posterior Embryotoxon |
|
Posterior embryotoxon |
OMIM:617992 |
Morning Glory Disc Anomaly |
|
Optic disc coloboma, Cataract |
ORPHA:35737 |
Lissencephaly 5 |
|
Cataract |
OMIM:615191 |
Retinitis Pigmentosa 56 |
|
Posterior subcapsular cataract, Nuclear cataract |
OMIM:613581 |
Mucolipidosis Type Iv |
|
Corneal opacity |
ORPHA:578 |
Macular Corneal Dystrophy |
|
Hyperopic astigmatism, Corneal crystals, Punctate opacification of the cornea, Recurrent corneal ... |
ORPHA:98969 |
Alpha-Mannosidosis, Adult Form |
|
Aortic regurgitation, Cataract, Corneal opacity |
ORPHA:309288 |
Birdshot Chorioretinopathy |
|
Abnormal chorioretinal morphology, Cataract, Choroidal neovascularization, Abnormal choroid morph... |
ORPHA:179 |
Trisomy 9P |
|
Abnormal pupil morphology |
ORPHA:236 |
Glaucoma 3, Primary Infantile, B |
|
Primary congenital glaucoma |
OMIM:600975 |
Trisomy 13 |
|
Cataract, Anophthalmia, Aplasia/Hypoplasia of the iris, Microphthalmia, Iris coloboma |
ORPHA:3378 |
Phenylketonuria |
|
Cataract, Blue irides |
OMIM:261600 |
Retinitis Pigmentosa 2 |
|
Cataract, Chorioretinal degeneration |
OMIM:312600 |
Ophthalmomandibulomelic Dysplasia |
|
Megalocornea, Opacification of the corneal stroma |
OMIM:164900 |
Exudative Vitreoretinopathy 2, X-Linked |
|
Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Peripheral vitreous ... |
OMIM:305390 |
Wagro Syndrome |
|
Aniridia, Hypertension, Cataract, Corneal opacity |
OMIM:612469 |
Familial Dysautonomia |
|
Orthostatic hypotension, Tachycardia, Corneal opacity, Abnormal pupil morphology, Corneal erosion... |
ORPHA:1764 |
Premature Ovarian Failure 12 |
|
Microphthalmia, Primary amenorrhea |
OMIM:616947 |
Phace Syndrome |
|
Cataract, Optic nerve hypoplasia, Sclerocornea, Cerebral arteriovenous malformation, Lens colobom... |
ORPHA:42775 |
Sialidosis Type 1 |
|
Tremor, Cataract, Corneal opacity |
ORPHA:812 |
Keratoconus 1 |
|
Keratoconus, Astigmatism |
OMIM:148300 |
Facial Spasm |
|
Anisocoria |
OMIM:134300 |
Microcephaly-Albinism-Digital Anomalies Syndrome |
|
Iris hypopigmentation |
ORPHA:2513 |
Spastic Paraplegia 5A, Autosomal Recessive |
|
Cataract, Postural tremor |
OMIM:270800 |
Autosomal Recessive Stickler Syndrome |
|
Cataract, Astigmatism |
ORPHA:250984 |
Monilethrix |
|
Cataract |
ORPHA:573 |
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development |
|
Cataract, Band keratopathy |
OMIM:604278 |
Lcat Deficiency |
|
Corneal opacity |
ORPHA:650 |
Intellectual Disability-Alacrima-Achalasia Syndrome |
|
Anisocoria |
ORPHA:289483 |
Combined Oxidative Phosphorylation Deficiency 31 |
|
Hypertrophic cardiomyopathy, Cataract |
OMIM:617228 |
Laurence-Moon Syndrome |
|
Cataract, Iris coloboma |
ORPHA:2377 |
Kniest Dysplasia |
|
Cataract, Aplasia/Hypoplasia of the lens, Lens luxation |
ORPHA:485 |
Intellectual Developmental Disorder, X-Linked, Syndromic 17 |
|
Anisocoria |
OMIM:300858 |
Pierpont Syndrome |
|
Microcornea, Microphthalmia |
ORPHA:487825 |
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts |
|
Developmental cataract |
OMIM:600559 |
Hereditary Leiomyomatosis And Renal Cell Cancer |
|
Cataract |
ORPHA:523 |
Corneal Dystrophy, Meesmann, 2 |
|
Recurrent corneal erosions |
OMIM:618767 |
Amyloidosis, Finnish Type |
|
Cardiomyopathy, Lattice corneal dystrophy |
OMIM:105120 |
Rothmund-Thomson Syndrome, Type 1 |
|
Juvenile cataract |
OMIM:618625 |
Retinal Dystrophy With Or Without Macular Staphyloma |
|
Posterior subcapsular cataract, Nuclear cataract |
OMIM:617547 |
Peroxisome Biogenesis Disorder 10B |
|
Cataract |
OMIM:617370 |
Wilson-Turner Syndrome |
|
Cataract |
ORPHA:3459 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Cataract, Buphthalmos, Persistent pupillary membrane, Peters anomaly, Microphthalmia |
OMIM:613150 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Cataract |
ORPHA:2643 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Descending thoracic aorta aneurysm, Abnormal left ventricular function, Abdominal aortic aneurysm... |
ORPHA:91387 |
Chondrodysplasia Punctata 1, X-Linked Recessive |
|
Cataract |
OMIM:302950 |
Familial Aortic Dissection |
|
Aortic regurgitation, Descending thoracic aorta aneurysm, Patent ductus arteriosus, Descending ao... |
ORPHA:229 |
8Q21.11 Microdeletion Syndrome |
|
Cataract, Corneal opacity, Sclerocornea, Microphthalmia, Iris hypopigmentation |
ORPHA:284160 |
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis |
|
Cataract |
OMIM:615704 |
Autosomal Dominant Optic Atrophy And Cataract |
|
Anterior subcapsular cataract, Cataract, Posterior cortical cataract, Cerulean cataract, Anterior... |
ORPHA:67036 |
Frontonasal Dysplasia 1 |
|
Microphthalmia, Coloboma, Cataract |
OMIM:136760 |
Palmoplantar Keratoderma And Congenital Alopecia 2 |
|
Developmental cataract |
OMIM:212360 |
Dyschondrosteosis-Nephritis Syndrome |
|
Corneal opacity |
ORPHA:1765 |
Oculocerebrocutaneous Syndrome |
|
Microphthalmia, Anophthalmia, Cryptorchidism |
OMIM:164180 |
Joubert Syndrome 9 |
|
Cataract, Astigmatism |
OMIM:612285 |
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract |
|
Intention tremor, Subcapsular cataract, Cataract |
OMIM:612674 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Microphthalmia, Anophthalmia, Iris coloboma, Sclerocornea |
ORPHA:77298 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Microphthalmia, Coloboma, Cataract, Abnormally large globe |
OMIM:615249 |
Kid Syndrome |
|
Keratitis, Corneal erosion, Keratoconjunctivitis sicca, Conjunctivitis, Corneal neovascularizatio... |
ORPHA:477 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Corneal opacity, Coloboma, Ectopia pupillae, Lens subluxation, Microphthalmia |
ORPHA:85167 |
Neuropathy, Hereditary Sensory And Autonomic, Type Ia |
|
Cataract, Hand tremor |
OMIM:162400 |
Histiocytoid Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Corneal opacity, Atrial fibrillation... |
ORPHA:137675 |
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Cataract, Cerebral hemorrhage, Dilated cardiomyopathy, Premature coronary artery atherosclerosis,... |
OMIM:300845 |
Congenital Disorder Of Glycosylation, Type Iq |
|
Microphthalmia, Coloboma, Cataract |
OMIM:612379 |
Multisystemic Smooth Muscle Dysfunction Syndrome |
|
Aortic arch aneurysm, Thoracic aortic aneurysm, Brachiocephalic artery aneurysm, Patent ductus ar... |
OMIM:613834 |
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome |
|
Cataract, Developmental cataract |
ORPHA:436174 |
Premature Aging Syndrome, Okamoto Type |
|
Cataract |
OMIM:601811 |
Olmsted Syndrome 1 |
|
Corneal opacity, Opacification of the corneal stroma |
OMIM:614594 |
Encephalopathy Due To Sulfite Oxidase Deficiency |
|
Ectopia lentis |
ORPHA:833 |
Kyrle Disease |
|
Posterior subcapsular cataract |
OMIM:149500 |
Cataract 43 |
|
Posterior subcapsular cataract |
OMIM:616279 |
Phosphoglycerate Dehydrogenase Deficiency |
|
Developmental cataract |
OMIM:601815 |
Nevus Comedonicus Syndrome |
|
Cataract |
ORPHA:64754 |
Phace Association |
|
Anomalous branches of internal carotid artery, Optic nerve hypoplasia, Patent ductus arteriosus, ... |
OMIM:606519 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Posterior synechiae of the anterior chamber, Developmental cataract |
OMIM:613154 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Microphthalmia, Lens coloboma, Pulmonic stenosis |
OMIM:618914 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3 |
|
Microphthalmia |
OMIM:616335 |
Duane Retraction Syndrome |
|
Central heterochromia, Optic disc hypoplasia, Abnormal pupil morphology, Microcornea, Hypoplastic... |
ORPHA:233 |
Dystonia-Deafness Syndrome 1 |
|
Leg dystonia, Cataract, Oculogyric crisis, Generalized dystonia |
OMIM:607371 |
Cataract, Ataxia, Short Stature, And Impaired Intellectual Development |
|
Posterior subcapsular cataract, Postural tremor |
OMIM:300619 |
Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Cataract, Corneal opacity, Ocular albinism, Athetosis, Choroideremia, Aplasia/Hypoplasia affectin... |
ORPHA:2719 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Cataract, Optic nerve hypoplasia, Abnormality iris morphology, Coloboma, Cardiomyopathy, Micropht... |
ORPHA:370959 |
Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Corneal opacity |
OMIM:602400 |
Hemochromatosis, Type 4 |
|
Cardiomyopathy, Arrhythmia, Cataract |
OMIM:606069 |
Microcephaly 10, Primary, Autosomal Recessive |
|
Cataract |
OMIM:615095 |
Walker-Warburg Syndrome |
|
Anophthalmia, Cataract, Corneal opacity, Chorioretinal dysplasia, Microcornea, Microphthalmia, Ir... |
ORPHA:899 |
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome |
|
Buphthalmos, Rieger anomaly, Primary congenital glaucoma |
ORPHA:521445 |
Intestinal Botulism |
|
Mydriasis |
ORPHA:178481 |
Humero-Radial Synostosis |
|
Aplasia/Hypoplasia affecting the eye, Iris coloboma, Chorioretinal coloboma |
ORPHA:3265 |
Scheie Syndrome |
|
Aortic regurgitation, Corneal opacity |
ORPHA:93474 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Microcornea, Microphthalmia, Cataract, Persistent pupillary membrane |
OMIM:257850 |
Congenital Fibrosis Of Extraocular Muscles |
|
Torticollis, Cataract, Optic nerve hypoplasia, Anisocoria, Abnormal pupil shape |
ORPHA:45358 |
Toxin-Mediated Infectious Botulism |
|
Mydriasis |
ORPHA:230800 |
Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Corneal erosion, Cataract |
OMIM:614878 |
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome |
|
Tremor, Heterochromia iridis |
ORPHA:66633 |
Spastic Paraplegia 46, Autosomal Recessive |
|
Cataract, Hand tremor, Head tremor |
OMIM:614409 |
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness |
|
Anterior polar cataract |
OMIM:250420 |
Multiple Sulfatase Deficiency |
|
Cataract, Corneal opacity |
ORPHA:585 |
Alagille Syndrome |
|
Keratoconus, Telangiectasia of the skin, Corneal dystrophy, Abnormal pupil morphology, Hypertension |
ORPHA:52 |
Collagenoma, Familial Cutaneous |
|
Iris atrophy, Tricuspid regurgitation, Right ventricular cardiomyopathy, Atrial fibrillation, Con... |
OMIM:115250 |
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia |
|
Ectopia lentis |
ORPHA:2325 |
Myopathy, Myofibrillar, 2 |
|
Hypertrophic cardiomyopathy, Cataract |
OMIM:608810 |
Congenital Sialidosis Type 2 |
|
Hypoplasia of the fovea, Abnormal EKG, Cataract, Corneal opacity, Developmental cataract, Telangi... |
ORPHA:93400 |
Mucolipidosis Iii Gamma |
|
Aortic regurgitation, Aortic valve stenosis, Opacification of the corneal stroma |
OMIM:252605 |
Primary Non-Essential Cutis Verticis Gyrata |
|
Developmental cataract |
ORPHA:357225 |
Neurotrophic Keratopathy |
|
Anterior uveitis, Corneal scarring, Corneal stromal edema, Astigmatism, Recurrent corneal erosion... |
ORPHA:137596 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14 |
|
Prolonged QT interval, Cataract |
OMIM:615351 |
Cutis Laxa, Autosomal Dominant 3 |
|
Aortic regurgitation, Corneal opacity, Developmental cataract |
OMIM:616603 |
Congenital Fibrinogen Deficiency |
|
Tachycardia, Opisthotonus, Developmental cataract, Microphthalmia, Internal hemorrhage |
ORPHA:335 |
Noonan Syndrome 9 |
|
Prominent corneal nerve fibers, Sparse eyebrow, Coarctation of aorta, Pulmonic stenosis, Downslan... |
OMIM:616559 |
Aorto-Ventricular Tunnel |
|
Abnormal coronary artery morphology, Aorto-ventricular tunnel, Congestive heart failure, Heart mu... |
ORPHA:3400 |
Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Microphthalmia, Cataract, Dystonia |
OMIM:614105 |
Juvenile Sialidosis Type 2 |
|
Cataract, Corneal opacity |
ORPHA:93399 |
X-Linked Intellectual Disability, Najm Type |
|
Cataract, Optic nerve hypoplasia, Chorioretinal coloboma |
ORPHA:163937 |
Stickler Syndrome, Type Ii |
|
Cataract |
OMIM:604841 |
Sympathetic Ophthalmia |
|
Cataract, Retinal hemorrhage, Anterior chamber cells, Posterior synechiae of the anterior chamber... |
ORPHA:79098 |
Idiopathic Uveal Effusion Syndrome |
|
Microphthalmia, Abnormal anterior eye segment morphology |
ORPHA:209956 |
Galloway-Mowat Syndrome 1 |
|
Hypoplasia of the iris, Microphthalmia, Cataract, Opacification of the corneal stroma |
OMIM:251300 |
Warburg-Cinotti Syndrome |
|
Corneal neovascularization, Limbal stem cell deficiency, Symblepharon, Decreased corneal thickness |
OMIM:618175 |
Al-Gazali Syndrome |
|
Corneal opacity, Sclerocornea |
OMIM:609465 |
Focal Dermal Hypoplasia |
|
Corneal opacity, Telangiectasia of the skin, Ectopia lentis, Hypoplasia of the iris, Chorioretina... |
ORPHA:2092 |
Pierpont Syndrome |
|
Microcornea, Microphthalmia |
OMIM:602342 |
Crome Syndrome |
|
Developmental cataract |
OMIM:218900 |
Neurooculocardiogenitourinary Syndrome |
|
Epicanthus, Tricuspid regurgitation, Patent ductus arteriosus, Coloboma, Peters anomaly, Micropht... |
OMIM:618652 |
Peroxisome Biogenesis Disorder 9B |
|
Cardiomyopathy, Cataract |
OMIM:614879 |
Insulin-Like Growth Factor I, Resistance To |
|
Rieger anomaly |
OMIM:270450 |
Adult-Onset Autosomal Recessive Cerebellar Ataxia |
|
Cataract, Tortuosity of conjunctival vessels, Intention tremor |
ORPHA:284289 |
Galactokinase Deficiency |
|
Nuclear cataract, Cataract |
ORPHA:79237 |
Bartsocas-Papas Syndrome |
|
Popliteal pterygium, Corneal opacity |
ORPHA:1234 |
Lecithin:Cholesterol Acyltransferase Deficiency |
|
Corneal arcus |
OMIM:245900 |
Tricho-Retino-Dento-Digital Syndrome |
|
Juvenile cataract |
ORPHA:1264 |
Galactosialidosis |
|
Conjunctival telangiectasia, Opacification of the corneal stroma |
OMIM:256540 |
Autosomal Recessive Ataxia Due To Pex10 Deficiency |
|
Mydriasis |
ORPHA:247815 |
Mmep Syndrome |
|
Microphthalmia, Cryptorchidism |
ORPHA:3434 |
Norrie Disease |
|
Aplasia/Hypoplasia of the lens, Corneal opacity, Cataract, Sclerocornea, Ectopia lentis, Remnants... |
ORPHA:649 |
Revesz Syndrome |
|
Megalocornea, Leukocoria |
OMIM:268130 |
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome |
|
Retinal coloboma, Iris coloboma, Chorioretinal coloboma |
ORPHA:2921 |
Familial Isolated Hypoparathyroidism |
|
Arrhythmia, Cataract |
ORPHA:2238 |
Curry-Jones Syndrome |
|
Microphthalmia, Optic disc coloboma, Iris coloboma |
ORPHA:1553 |
Hereditary Mucoepithelial Dysplasia |
|
Cataract, Corneal dystrophy |
ORPHA:1839 |
Sengers Syndrome |
|
Cataract, Cardiac arrest, Sudden cardiac death, Developmental cataract, Pulmonary arterial hypert... |
OMIM:212350 |
Waardenburg Syndrome, Type 1 |
|
Hypoplastic iris stroma, Heterochromia iridis, Blue irides |
OMIM:193500 |
Pontocerebellar Hypoplasia, Type 16 |
|
Cataract |
OMIM:619527 |
Pseudopseudohypoparathyroidism |
|
Cataract |
OMIM:612463 |
Craniolenticulosutural Dysplasia |
|
Posterior Y-sutural cataract |
ORPHA:50814 |
Wound Botulism |
|
Cardiac arrest, Mydriasis |
ORPHA:178475 |
Keratoconus 9 |
|
Keratoconus, Decreased corneal thickness |
OMIM:617928 |
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies |
|
Cataract |
OMIM:617481 |
Hypoparathyroidism, Familial Isolated, 1 |
|
Cataract |
OMIM:146200 |
Stickler Syndrome Type 1 |
|
Cataract |
ORPHA:90653 |
Gracile Bone Dysplasia |
|
Aniridia, Microphthalmia |
OMIM:602361 |
Oculofaciocardiodental Syndrome |
|
Cataract, Ectopia lentis, Microcornea, Microphthalmia, Iris coloboma |
ORPHA:2712 |
Weill-Marchesani Syndrome 1 |
|
Cataract, Ectopia lentis, Microspherophakia, Shallow anterior chamber, Mitral regurgitation, Pulm... |
OMIM:277600 |
Warburg Micro Syndrome 2 |
|
Microcornea, Microphthalmia, Cataract, Developmental cataract |
OMIM:614225 |
Alport Syndrome 2, Autosomal Recessive |
|
Hypertension, Corneal erosion, Cataract, Anterior lenticonus |
OMIM:203780 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4 |
|
Mydriasis |
OMIM:619365 |
Tetraamelia-Multiple Malformations Syndrome |
|
Septo-optic dysplasia, Cataract, Microcornea, Microphthalmia, Iris coloboma |
ORPHA:3301 |
Autoimmune Polyendocrinopathy Type 1 |
|
Cataract, Opacification of the corneal stroma |
ORPHA:3453 |
Congenital Hydrocephalus |
|
Macular hypoplasia, Iris coloboma |
ORPHA:2185 |
Spastic Paraplegia 9B, Autosomal Recessive |
|
Tremor, Cataract |
OMIM:616586 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Levotransposition of the great arteries, Tachycardia, Abnormal coronary artery morphology, Cardia... |
ORPHA:860 |
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type |
|
Opacification of the corneal stroma |
OMIM:601356 |
Brittle Cornea Syndrome 1 |
|
Keratoconus, Keratoglobus, Abnormal cornea morphology, Decreased corneal thickness |
OMIM:229200 |
Microphthalmia, Isolated, With Coloboma 6 |
|
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia |
OMIM:613703 |
Abruzzo-Erickson Syndrome |
|
Microcornea, Coloboma, Iris coloboma, Chorioretinal coloboma |
ORPHA:921 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Cataract |
ORPHA:2772 |
Retinitis Pigmentosa |
|
Keratoconus, Cataract |
ORPHA:791 |
Stromme Syndrome |
|
Cataract, Optic nerve hypoplasia, Sclerocornea, Microcornea, Peters anomaly, Microphthalmia, Iris... |
OMIM:243605 |
Classic Phenylketonuria |
|
Tremor, Cataract |
ORPHA:79254 |
Iatrogenic Botulism |
|
Orthostatic hypotension, Mydriasis |
ORPHA:254509 |
Bietti Crystalline Dystrophy |
|
Choriocapillaris atrophy, Crystalline corneal dystrophy, Chorioretinal degeneration |
ORPHA:41751 |
Rhizomelic Chondrodysplasia Punctata |
|
Cataract |
ORPHA:177 |
Oligoarticular Juvenile Idiopathic Arthritis |
|
Uveitis, Cataract, Anterior chamber synechiae, Band keratopathy |
ORPHA:85410 |
Severe Early-Childhood-Onset Retinal Dystrophy |
|
Macular coloboma, Posterior subcapsular cataract, Abnormal corneal endothelium morphology, Chorio... |
ORPHA:364055 |
Peroxisome Biogenesis Disorder 7A (Zellweger) |
|
Cataract |
OMIM:614872 |
Fryns Microphthalmia Syndrome |
|
Microphthalmia, Anophthalmia |
OMIM:600776 |
Peroxisome Biogenesis Disorder 14B |
|
Developmental cataract |
OMIM:614920 |
Keratoconus Posticus Circumscriptus |
|
Keratoconus, Central posterior corneal opacity |
OMIM:244600 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Buphthalmos, Microphthalmia, Cataract |
OMIM:616538 |
Warburg Micro Syndrome 4 |
|
Microcornea, Microphthalmia, Developmental cataract |
OMIM:615663 |
Arterial Tortuosity Syndrome |
|
Aortic regurgitation, Keratoconus, Carotid artery dissection, Pulmonary artery stenosis, Aortic t... |
OMIM:208050 |
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type) |
|
Cataract |
OMIM:619780 |
Hurler-Scheie Syndrome |
|
Aortic regurgitation, Pulmonary arterial hypertension, Mitral regurgitation, Corneal opacity |
OMIM:607015 |
Autosomal Recessive Cutis Laxa Type 2A |
|
Athetosis, Abnormal cornea morphology, Corneal opacity, Dystonia |
ORPHA:357058 |
Warburg Micro Syndrome 3 |
|
Cataract, Developmental cataract, Microcornea, Shallow anterior chamber, Microphthalmia |
OMIM:614222 |
Maternal Uniparental Disomy Of Chromosome 1 |
|
Cataract |
ORPHA:251009 |
Vogt-Koyanagi-Harada Disease |
|
Cataract |
ORPHA:3437 |
Achondrogenesis Type 2 |
|
Cataract, Lens subluxation |
ORPHA:93296 |
Adams-Oliver Syndrome 2 |
|
Microphthalmia, Developmental cataract |
OMIM:614219 |
Combined Oxidative Phosphorylation Deficiency 47 |
|
Cataract |
OMIM:618958 |
Miller Fisher Syndrome |
|
Anisocoria, Mydriasis |
ORPHA:98919 |
Alg3-Cdg |
|
Cardiomyopathy, Cataract, Coarctation of the descending aortic arch |
ORPHA:79321 |
Hijazi-Reis Syndrome |
|
Astigmatism, Iris coloboma |
OMIM:301094 |
4H Leukodystrophy |
|
Tremor, Cataract, Dystonia |
ORPHA:289494 |
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome |
|
Opacification of the corneal stroma |
OMIM:215250 |
Dentici-Novelli Neurodevelopmental Syndrome |
|
Cataract |
OMIM:619877 |
Nephronophthisis 11 |
|
Anisocoria |
OMIM:613550 |
Prune1-Related Neurological Syndrome |
|
Hypertrophic cardiomyopathy, Cataract |
ORPHA:544469 |
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
|
Tricuspid regurgitation, Anophthalmia, Corneal dystrophy, Mitral regurgitation, Aniridia, Megaloc... |
ORPHA:1101 |
Alpha-N-Acetylgalactosaminidase Deficiency |
|
Cataract |
ORPHA:3137 |
Refsum Disease |
|
Heart block, Microphthalmia, Cataract, Cardiomyopathy |
ORPHA:773 |
Vitamin K Antagonist Embryofetopathy |
|
Cataract, Aplasia/Hypoplasia affecting the eye |
ORPHA:1914 |
Zellweger Syndrome |
|
Cataract, Abnormal chorioretinal morphology, Corneal opacity, Brushfield spots, Posterior embryot... |
ORPHA:912 |
Mass Syndrome |
|
Ectopia lentis |
OMIM:604308 |
Autosomal Recessive Spastic Paraplegia Type 46 |
|
Cataract, Head tremor |
ORPHA:320391 |
Developmental Malformations-Deafness-Dystonia Syndrome |
|
Cataract, Generalized dystonia |
ORPHA:79107 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Corneal scarring, Athetosis, Dystonia, Lingual dystonia, Corneal neovascularization, Action tremor |
ORPHA:404454 |
Juvenile Glaucoma |
|
Abnormal anterior chamber morphology, Abnormality iris morphology |
ORPHA:98977 |
Neurodevelopmental Disorder With Spasticity, Cataracts, And Cerebellar Hypoplasia |
|
Cataract, Dystonia |
OMIM:619286 |
Kapur-Toriello Syndrome |
|
Microphthalmia, Cataract, Retinal coloboma, Iris coloboma |
OMIM:244300 |
Bresek Syndrome |
|
Optic nerve hypoplasia, Microphthalmia, Iris coloboma |
ORPHA:85284 |
Knobloch Syndrome 2 |
|
Anterior cortical cataract |
OMIM:618458 |
Osteogenesis Imperfecta Congenita, Microcephaly, And Cataracts |
|
Developmental cataract |
OMIM:259410 |
Weill-Marchesani Syndrome 2 |
|
Iridodonesis, Cataract, Lens luxation, Ectopia lentis, Congestive heart failure, Microspherophaki... |
OMIM:608328 |
Neonatal Adrenoleukodystrophy |
|
Cataract |
ORPHA:44 |
Rhizomelic Chondrodysplasia Punctata, Type 2 |
|
Cataract, Zonular cataract |
OMIM:222765 |
Oculocerebrocutaneous Syndrome |
|
Corneal opacity, Iris coloboma |
ORPHA:1647 |
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome |
|
Cataract, Cerebral hemorrhage, Dilated cardiomyopathy, Hypertension, Ischemic stroke |
ORPHA:280679 |
Craniolenticulosutural Dysplasia |
|
Punctate cataract, Posterior Y-sutural cataract |
OMIM:607812 |
Usher Syndrome Type 2 |
|
Cataract, Iris hypopigmentation |
ORPHA:231178 |
Trichothiodystrophy 3, Photosensitive |
|
Microphthalmia, Cataract, Developmental cataract |
OMIM:616395 |
Congenital Muscular Dystrophy, Fukuyama Type |
|
Dilated cardiomyopathy, Cataract |
ORPHA:272 |
Gyrate Atrophy Of Choroid And Retina |
|
Posterior subcapsular cataract, Chorioretinal atrophy |
OMIM:258870 |
Rere-Related Neurodevelopmental Syndrome |
|
Astigmatism, Chorioretinal coloboma, Peters anomaly, Microphthalmia, Iris coloboma |
ORPHA:494344 |
Retinitis Pigmentosa 13 |
|
Subcapsular cataract |
OMIM:600059 |
Dubowitz Syndrome |
|
Hypoplasia of the iris, Microphthalmia, Megalocornea, Iris coloboma |
OMIM:223370 |
Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia, Hypothyroidism, And Tracheal Stenosis |
|
Ocular anterior segment dysgenesis, Iris coloboma |
OMIM:601427 |
Microphthalmia, Lenz Type |
|
Cataract, Optic disc coloboma, Microcornea, Chorioretinal coloboma, Microphthalmia, Iris coloboma |
ORPHA:568 |
Sandestig-Stefanova Syndrome |
|
Microphthalmia, Developmental cataract |
OMIM:618804 |
Huppke-Brendel Syndrome |
|
Developmental cataract |
OMIM:614482 |
Full Nf2-Related Schwannomatosis |
|
Posterior subcapsular cataract, Remnants of the hyaloid vascular system, Cortical cataract |
ORPHA:637 |
Cadds |
|
Cataract, Dystonia |
ORPHA:369942 |
Ifap Syndrome 2 |
|
Keratitis, Keratoconjunctivitis sicca, Cataract |
OMIM:619016 |
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies |
|
Microphthalmia, Astigmatism, Retinal coloboma, Cataract |
OMIM:618571 |
Full Schwannomatosis |
|
Cataract |
ORPHA:93921 |
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant |
|
Keratitis, Cataract, Conjunctivitis |
OMIM:612843 |
Exudative Vitreoretinopathy 4 |
|
Vitreous hemorrhage, Subcapsular cataract |
OMIM:601813 |
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma |
|
Retinal coloboma, Macular coloboma, Interrupted aortic arch, Coarctation of aorta |
OMIM:107550 |
Bare Lymphocyte Syndrome, Type I |
|
Ectopia lentis |
OMIM:604571 |
Knobloch Syndrome 1 |
|
Band keratopathy, Developmental cataract, Iris transillumination defect, Lens subluxation, Persis... |
OMIM:267750 |
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Anterior polar cataract |
OMIM:619575 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Cardiac arrest, Sclerocornea, Dilated cardiomyopathy, Ventricular tachycardia, Histiocytoid cardi... |
OMIM:300952 |
Infantile Refsum Disease |
|
Cardiomyopathy, Arrhythmia, Cataract |
ORPHA:772 |
Cataract-Intellectual Disability-Hypogonadism Syndrome |
|
Cataract |
ORPHA:1387 |
Mend Syndrome |
|
Anterior polar cataract, Cataract |
OMIM:300960 |
Frontorhiny |
|
Microphthalmia, Cataract, Iris coloboma |
ORPHA:391474 |
Fucosidosis |
|
Corneal opacity |
ORPHA:349 |
Kapur-Toriello Syndrome |
|
Microphthalmia, Retinal coloboma, Iris coloboma |
ORPHA:2328 |
Botulism |
|
Arrhythmia, Mydriasis |
ORPHA:1267 |
Muscle-Eye-Brain Disease |
|
Cataract |
ORPHA:588 |
Srd5A3-Cdg |
|
Coloboma, Cataract, Optic disc hypoplasia |
ORPHA:324737 |
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
Microphthalmia |
OMIM:251700 |
Spinocerebellar Ataxia Type 32 |
|
Male infertility, Azoospermia, Testicular atrophy, Cognitive impairment |
ORPHA:276183 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Cataract |
ORPHA:3085 |
Achalasia-Addisonianism-Alacrima Syndrome |
|
Anisocoria, Orthostatic hypotension |
OMIM:231550 |
Cystinosis |
|
Corneal opacity, Portal hypertension |
ORPHA:213 |
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy |
|
Buphthalmos, Cataract |
ORPHA:370997 |
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis |
|
Developmental cataract |
OMIM:616834 |
Sanjad-Sakati Syndrome |
|
Astigmatism, Corneal opacity, Aplasia/Hypoplasia affecting the eye |
ORPHA:2323 |
Charcot-Marie-Tooth Disease Type 1E |
|
Anisocoria, Abnormal pupil morphology |
ORPHA:90658 |
Neurofacioskeletal Syndrome With Or Without Renal Agenesis |
|
Hypoplasia of the iris, Anterior polar cataract, Posterior embryotoxon |
OMIM:619194 |
Schimmelpenning-Feuerstein-Mims Syndrome |
|
Coloboma, Corneal opacity |
OMIM:163200 |
Spinocerebellar Ataxia 32 |
|
Azoospermia, Testicular atrophy, Infertility, Cognitive impairment |
OMIM:613909 |
Loeys-Dietz Syndrome 4 |
|
Flat cornea, Arterial tortuosity, Aortic tortuosity, Ascending tubular aorta aneurysm, Aortic roo... |
OMIM:614816 |
Congenital Disorder Of Glycosylation, Type Ii |
|
Cataract, Iris coloboma, Dystonia |
OMIM:607906 |
Ocular Cystinosis |
|
Corneal crystals |
ORPHA:411641 |
Myotonic Dystrophy 1 |
|
Atrial flutter, Cataract, First degree atrioventricular block, Atrial fibrillation |
OMIM:160900 |
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome |
|
Cataract |
ORPHA:369847 |
Waardenburg Syndrome, Type 4B |
|
Blue irides, Heterochromia iridis |
OMIM:613265 |
Inhalational Botulism |
|
Mydriasis |
ORPHA:254504 |
Metatropic Dysplasia |
|
Cataract |
ORPHA:2635 |
Late-Onset Retinal Degeneration |
|
Iris atrophy, Choroidal neovascularization, Abnormal anterior eye segment morphology, Chorioretin... |
ORPHA:67042 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Absent lacrimal punctum, Lipomas of eyelids, Telecanthus, Sparse eyebrow, Upper eyelid coloboma, ... |
OMIM:167730 |
Bietti Crystalline Corneoretinal Dystrophy |
|
Marginal corneal dystrophy, Chorioretinal atrophy, Corneal crystals |
OMIM:210370 |
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive |
|
Hypertrophic cardiomyopathy, Cataract, Heart murmur |
OMIM:615418 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion |
|
Synophrys, Patent ductus arteriosus, Coarctation of aorta, Astigmatism, Pulmonic stenosis, Chorio... |
ORPHA:284169 |
Ehlers-Danlos Syndrome, Classic Type, 1 |
|
Epicanthus, Aortic root aneurysm, Ectopia lentis |
OMIM:130000 |
Distal Duplication 14Q |
|
Patent ductus arteriosus, Abnormal aortic morphology |
ORPHA:1705 |
Harlequin Ichthyosis |
|
Cataract, Sudden cardiac death |
ORPHA:457 |
Methionine Malabsorption Syndrome |
|
Blue irides |
OMIM:250900 |
Refsum Disease, Classic |
|
Cardiomyopathy, Arrhythmia, Cataract, Congestive heart failure |
OMIM:266500 |
Arterial Tortuosity Syndrome |
|
Keratoconus, Telangiectasia of the skin, Cardiac arrest, Myocardial infarction, Vascular dilatati... |
ORPHA:3342 |
Xeroderma Pigmentosum, Complementation Group B |
|
Microphthalmia, Cataract |
OMIM:610651 |
Biemond Syndrome Type 2 |
|
Hypogonadotropic hypogonadism, Hypospadias, Hypogonadism, Delayed puberty, Microphthalmia |
ORPHA:141333 |
Foodborne Botulism |
|
Arrhythmia, Mydriasis |
ORPHA:228371 |
Apolipoprotein A-I Deficiency |
|
Angina pectoris, Opacification of the corneal stroma |
ORPHA:425 |
Multiple Benign Circumferential Skin Creases On Limbs |
|
Microcornea, Microphthalmia, Congestive heart failure |
ORPHA:2505 |
Short Stature, Developmental Delay, And Congenital Heart Defects |
|
Uveitis, Developmental cataract |
OMIM:617044 |
Enhanced S-Cone Syndrome |
|
Cataract |
OMIM:268100 |
Bardet-Biedl Syndrome 9 |
|
Astigmatism, Cataract |
OMIM:615986 |
Hepatic Lipase Deficiency |
|
Corneal arcus, Angina pectoris |
OMIM:614025 |
Spondyloperipheral Dysplasia-Short Ulna Syndrome |
|
Cataract |
ORPHA:1856 |
Autosomal Dominant Spastic Paraplegia Type 9B |
|
Postural tremor, Focal dystonia, Developmental cataract |
ORPHA:447757 |
Leukodystrophy, Hypomyelinating, 5 |
|
Intention tremor, Truncal titubation, Developmental cataract |
OMIM:610532 |
Meckel Syndrome, Type 8 |
|
Ambiguous genitalia, Microphthalmia, Anophthalmia |
OMIM:613885 |
Familial Cerebral Saccular Aneurysm |
|
Transient ischemic attack, Cerebral berry aneurysm, Subarachnoid hemorrhage, Intracranial hemorrh... |
ORPHA:231160 |
Cleft, Median, Of Upper Lip With Polyps Of Facial Skin And Nasal Mucosa |
|
Iris coloboma |
OMIM:155145 |
Cystinosis, Adult Nonnephropathic |
|
Corneal crystals |
OMIM:219750 |
Infant Botulism |
|
Cardiac arrest, Hypertension, Keratoconjunctivitis sicca, Hypotension, Mydriasis |
ORPHA:178478 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Microphthalmia, Cataract |
ORPHA:163649 |
Insensitivity To Pain, Congenital, With Anhidrosis |
|
Postural hypotension with compensatory tachycardia, Keratitis, Corneal scarring, Recurrent cornea... |
OMIM:256800 |
Spermatogenic Failure, X-Linked, 2 |
|
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest |
OMIM:309120 |
Atelis Syndrome 1 |
|
Cataract |
OMIM:620184 |
Retinitis Pigmentosa 46 |
|
Posterior subcapsular cataract |
OMIM:612572 |
Distal Duplication 6P |
|
Cataract, Aplasia/Hypoplasia affecting the eye |
ORPHA:1745 |
Intellectual Developmental Disorder, X-Linked 109 |
|
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... |
OMIM:309548 |
Baraitser-Winter Syndrome 1 |
|
Epicanthus, Highly arched eyebrow, Patent ductus arteriosus, Chorioretinal coloboma, Long palpebr... |
OMIM:243310 |
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome |
|
Nuclear cataract |
ORPHA:2848 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Microphthalmia, Cataract |
OMIM:214150 |
Micro Syndrome |
|
Microcornea, Microphthalmia, Cataract, Retinal coloboma |
ORPHA:2510 |
1Q41Q42 Microdeletion Syndrome |
|
Abnormality iris morphology |
ORPHA:250999 |
Flynn-Aird Syndrome |
|
Cataract |
ORPHA:2047 |
Encephalocraniocutaneous Lipomatosis |
|
Abnormal nasolacrimal system morphology, Corneal opacity, Abnormal eyelid morphology, Abnormal ey... |
ORPHA:2396 |
Trichothiodystrophy 4, Nonphotosensitive |
|
Microcornea, Microphthalmia, Keratoconjunctivitis sicca |
OMIM:234050 |
Intellectual Developmental Disorder, Autosomal Dominant 67 |
|
Hyperactivity, Astigmatism, Compulsive behaviors, Attention deficit hyperactivity disorder, Hypot... |
OMIM:619927 |
Phaver Syndrome |
|
Epicanthus, Hypoplastic aortic arch, Coarctation of aorta, Pulmonary artery atresia, Pterygium, D... |
ORPHA:2876 |
Smith-Magenis syndrome |
|
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation |
DECIPHER:8 |
Lymphedema-Hypoparathyroidism Syndrome |
|
Cataract |
OMIM:247410 |
Fraxe Intellectual Disability |
|
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... |
ORPHA:100973 |
Multiple Sulfatase Deficiency |
|
Corneal opacity |
OMIM:272200 |
Velocardiofacial Syndrome |
|
Retinal vascular tortuosity, Tetralogy of Fallot, Narrow palpebral fissure, Interrupted aortic ar... |
OMIM:192430 |
Lymphedema-Distichiasis Syndrome |
|
Ptosis, Patent ductus arteriosus, Tetralogy of Fallot, Varicose veins, Corneal ulceration, Conjun... |
OMIM:153400 |
Gorlin Syndrome |
|
Cataract, Iris coloboma |
ORPHA:377 |
Microphthalmia, Isolated 8 |
|
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia |
OMIM:615113 |
Lacrimoauriculodentodigital Syndrome |
|
Increased corneal thickness, Keratoconjunctivitis, Keratoconjunctivitis sicca, Recurrent corneal ... |
ORPHA:2363 |
Visual Impairment And Progressive Phthisis Bulbi |
|
Phthisis bulbi, Flat cornea |
OMIM:618283 |
Congenital Disorder Of Glycosylation, Type Ij |
|
Tremor, Cataract |
OMIM:608093 |
Nanophthalmos |
|
Microphthalmia |
ORPHA:35612 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Anophthalmia, Microphthalmia, Cataract, Iris coloboma |
ORPHA:2250 |
Joint Laxity, Short Stature, And Myopia |
|
Iris coloboma, Chorioretinal coloboma |
OMIM:617662 |
Gorlin-Chaudhry-Moss Syndrome |
|
Astigmatism, Sclerocornea |
ORPHA:2095 |
Autosomal Recessive Spastic Paraplegia Type 5A |
|
Cataract |
ORPHA:100986 |
Chromosome 17Q12 Duplication Syndrome |
|
Microphthalmia, Peters anomaly |
OMIM:614526 |
Cockayne Syndrome B |
|
Developmental cataract, Microcornea, Hypoplasia of the iris, Hypertension, Opacification of the c... |
OMIM:133540 |
Mucopolysaccharidosis Type 7 |
|
Corneal opacity |
ORPHA:584 |
Marfan Syndrome |
|
Flat cornea, Ectopia lentis, Lens luxation, Congestive heart failure, Hypoplasia of the iris, Len... |
ORPHA:558 |
Autoimmune Hypoparathyroidism |
|
Prolonged QT interval, Cataract, Abnormal left ventricular function, Conjunctivitis, Laryngeal dy... |
ORPHA:36913 |
Albinism, Oculocutaneous, Type Vii |
|
Iris transillumination defect |
OMIM:615179 |
Frontofacionasal Dysplasia |
|
Microcornea, Microphthalmia, Cataract, Iris coloboma |
OMIM:229400 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Cataract, Sclerocornea, Junctional ectopic tachycardia, Peters anomaly, Histiocytoid cardiomyopat... |
OMIM:309801 |
Tangier Disease |
|
Myocardial infarction, Opacification of the corneal stroma |
OMIM:205400 |
Congenital Bile Acid Synthesis Defect Type 4 |
|
Tremor, Cataract, Hematochezia |
ORPHA:79095 |
Pseudo-Torch Syndrome 1 |
|
Cataract, Opacification of the corneal stroma, Dystonia |
OMIM:251290 |
Marfan Syndrome |
|
Aortic regurgitation, Cataract, Tricuspid regurgitation, Ectopia lentis, Congestive heart failure... |
OMIM:154700 |
Retinitis Pigmentosa 25 |
|
Posterior subcapsular cataract, Chorioretinal atrophy |
OMIM:602772 |
Neonatal Marfan Syndrome |
|
Iridodonesis, Tricuspid regurgitation, Ectopia lentis, Heart murmur, Ascending tubular aorta aneu... |
ORPHA:284979 |
Intellectual Developmental Disorder, Autosomal Dominant 70 |
|
Cataract, Optic nerve hypoplasia, Retinal telangiectasia |
OMIM:620157 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
Cardiomyopathy, Arrhythmia, Cataract, Bradycardia |
OMIM:609286 |
Axenfeld-Rieger Syndrome, Type 2 |
|
Microcornea, Opacification of the corneal stroma, Anterior chamber synechiae |
OMIM:601499 |
Congenital Ichthyosiform Erythroderma |
|
Keratitis, Corneal erosion |
ORPHA:79394 |
Carpenter Syndrome |
|
Abnormal cornea morphology |
ORPHA:65759 |
Chromosome 8Q21.11 Deletion Syndrome |
|
Microphthalmia, Cataract, Sclerocornea |
OMIM:614230 |
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Anophthalmia, Abnormal repetitive mannerisms |
ORPHA:411986 |
Cardiac-Valvular Ehlers-Danlos Syndrome |
|
Aortic regurgitation, Tricuspid regurgitation, Myopic astigmatism, Mitral regurgitation, Aortic r... |
ORPHA:230851 |
X-Linked Dominant Chondrodysplasia Punctata |
|
Microcornea, Microphthalmia, Cataract |
ORPHA:35173 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Microphthalmia, Hyperactivity |
OMIM:274270 |
3Mc Syndrome 3 |
|
Corneal opacity |
OMIM:248340 |
Galactosemia I |
|
Cataract |
OMIM:230400 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Cataract, Corneal opacity, Optic nerve hypoplasia, Buphthalmos, Coloboma, Peters anomaly, Microph... |
OMIM:236670 |
22Q11.2 Deletion Syndrome |
|
Gastrointestinal hemorrhage, Cataract, Microphthalmia, Posterior embryotoxon, Corneal neovascular... |
ORPHA:567 |
Ruijs-Aalfs Syndrome |
|
Posterior subcapsular cataract, Cataract |
OMIM:616200 |
Peroxisome Biogenesis Disorder 8B |
|
Cataract, Limb tremor |
OMIM:614877 |
Lowry-Maclean Syndrome |
|
Developmental glaucoma, Megalocornea, Corneal opacity |
ORPHA:2409 |
Chromosome Xp11.3 Deletion Syndrome |
|
Posterior subcapsular cataract, Cataract |
OMIM:300578 |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Tremor, Exaggerated startle response, Cataract |
OMIM:620327 |
Renpenning Syndrome |
|
Cataract, Iris coloboma |
ORPHA:3242 |
Hypogonadism, Male |
|
Male hypogonadism, Micropenis, Hypospadias, Testicular atrophy |
OMIM:241100 |
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Microphthalmia |
ORPHA:1574 |
Ermine Phenotype |
|
Astigmatism, Ocular albinism, Iris hypopigmentation |
ORPHA:999 |
Matthew-Wood Syndrome |
|
Anophthalmia, Cryptorchidism, Aplasia/Hypoplasia of the pancreas, Abnormality of the uterus, Micr... |
ORPHA:2470 |
Meckel Syndrome |
|
Cataract, Abnormal chorioretinal morphology, Anophthalmia, Sclerocornea, Microcornea, Aplasia/Hyp... |
ORPHA:564 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Left-to-right shunt, Congestive heart failure, Patent ductus arteriosus, Left ventricular outflow... |
ORPHA:99050 |
Anencephaly 2 |
|
Anophthalmia |
OMIM:619452 |
Cockayne Syndrome Type 3 |
|
Optic disc pallor, Cataract, Retinal atrophy, Retinal dystrophy, Retinal degeneration, Subdural h... |
ORPHA:90324 |
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome |
|
Anisocoria, Orthostatic hypotension |
OMIM:615510 |
Nanophthalmos 4 |
|
Microphthalmia |
OMIM:615972 |
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism |
|
Subcapsular cataract |
OMIM:268020 |
Retinitis Pigmentosa 77 |
|
Posterior subcapsular cataract |
OMIM:617304 |
Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Opacification of the corneal stroma |
OMIM:313400 |
Keratosis Follicularis Spinulosa Decalvans, X-Linked |
|
Keratitis, Conjunctivitis, Corneal dystrophy |
OMIM:308800 |
Mucopolysaccharidosis Type 4 |
|
Corneal opacity |
ORPHA:582 |
Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Cataract, Ocular albinism, Iris hypopigmentation |
ORPHA:2720 |
Chanarin-Dorfman Syndrome |
|
Subcapsular cataract |
OMIM:275630 |
Neuropathy, Hereditary Sensory And Autonomic, Type Viii |
|
Corneal ulceration, Corneal scarring |
OMIM:616488 |
Serotonin Syndrome |
|
Tachycardia, Tremor, Hypertension, Hypotension, Mydriasis |
ORPHA:43116 |
Myh9-Related Disease |
|
Spontaneous, recurrent epistaxis, Presenile cataracts, Myocardial infarction |
ORPHA:182050 |
Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Microcornea, Microphthalmia |
OMIM:110100 |
Retinitis Pigmentosa 83 |
|
Posterior subcapsular cataract |
OMIM:618173 |
Retinitis Pigmentosa 14 |
|
Posterior subcapsular cataract |
OMIM:600132 |
Cln3 Disease |
|
T-wave inversion, Cataract, Bradycardia |
ORPHA:228346 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Microcornea, Microphthalmia, Cataract, Pulmonary arterial hypertension |
OMIM:616449 |
Dahlberg-Borer-Newcomer Syndrome |
|
Cataract |
ORPHA:1563 |
Cutis Marmorata Telangiectatica Congenita |
|
Retinal detachment, Telangiectasia of the skin, Patent ductus arteriosus, Arterial stenosis, Leuk... |
ORPHA:1556 |
Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Ectopia lentis, Hypertension, Keratoconjunctivitis sicca, Aortic root aneurysm, Downslanted palpe... |
OMIM:616914 |
Retinitis Pigmentosa 23 |
|
Posterior subcapsular cataract |
OMIM:300424 |
Wolfram Syndrome 1 |
|
Tremor, Cardiomyopathy, Cataract |
OMIM:222300 |
Hydrolethalus |
|
Cryptorchidism, Microphthalmia, Anophthalmia, Abnormal fallopian tube morphology |
ORPHA:2189 |
Branchio-Oculo-Facial Syndrome |
|
Cataract, Nasolacrimal duct obstruction, Microcornea, Coloboma, Iris coloboma |
ORPHA:1297 |
Hypercholesterolemia, Familial, 3 |
|
Corneal arcus |
OMIM:603776 |
Clouston Syndrome |
|
Cataract, Conjunctivitis |
OMIM:129500 |
Neuraminidase Deficiency |
|
Cardiomyopathy, Cataract |
OMIM:256550 |
Wilson Disease |
|
Kayser-Fleischer ring |
ORPHA:905 |
Isolated Atp Synthase Deficiency |
|
Cataract, Dilated cardiomyopathy, Arrhythmia, Dystonia, Hypertrophic cardiomyopathy |
ORPHA:254913 |
Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Cataract |
ORPHA:369840 |
Gmppb-Related Limb-Girdle Muscular Dystrophy R19 |
|
Cardiomyopathy, Cataract |
ORPHA:363623 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Decreased serum testosterone concentration, Hyperplasia of the Leydig cells, Decreased female lib... |
ORPHA:52901 |
Contractural Arachnodactyly, Congenital |
|
Patent ductus arteriosus, Mitral regurgitation, Aortic root aneurysm, Ectopia lentis |
OMIM:121050 |
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome |
|
Patent ductus arteriosus, Pseudocoarctation of the aorta |
ORPHA:228190 |
Fryns Syndrome |
|
Corneal opacity, Abnormal aortic arch morphology, Abnormal aortic morphology, Microphthalmia, Tet... |
ORPHA:2059 |
Trichinellosis |
|
Retinal hemorrhage, Anisocoria, Conjunctivitis, Abnormal uvea morphology, Conjunctival hyperemia |
ORPHA:863 |
Hypercholesterolemia, Familial, 1 |
|
Corneal arcus |
OMIM:143890 |
Spastic Paraplegia 9A, Autosomal Dominant |
|
Resting tremor, Cataract |
OMIM:601162 |
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type |
|
Corneal crystals |
OMIM:219900 |
Exudative Vitreoretinopathy 1 |
|
Vitreous hemorrhage, Subcapsular cataract, Retinal neovascularization |
OMIM:133780 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Corneal opacity, Optic nerve hypoplasia, Abnormal left ventricular function, Astigmatism, Pulmoni... |
OMIM:301056 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Cataract, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Peters anomaly, Microp... |
OMIM:614643 |
Retinitis Pigmentosa 66 |
|
Posterior subcapsular cataract |
OMIM:615233 |
Cockayne Syndrome Type 2 |
|
Anophthalmia, Cryptorchidism, Developmental cataract, Conjunctivitis, Male hypogonadism |
ORPHA:90322 |
Alport Syndrome |
|
Posterior subcapsular cataract, Renal glomerular foam cells, Abnormal corneal endothelium morphol... |
ORPHA:63 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Aortic regurgitation, Cataract, Sutural cataract, Tremor, Nuclear pulverulent cataract, Microphth... |
OMIM:612474 |
Fibromuscular Dysplasia, Arterial |
|
Myocardial infarction, Renovascular hypertension, Stroke, Intermittent claudication, Aortic disse... |
OMIM:135580 |
Skin Creases, Congenital Symmetric Circumferential, 1 |
|
Microcornea, Microphthalmia |
OMIM:156610 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Cerebral hemorrhage, Congestive heart failure, Palpitations, Positive regitine blocking test, Ani... |
ORPHA:29072 |
Proboscis Lateralis |
|
Cataract, Corneal opacity, Anophthalmia, Optic nerve hypoplasia, Optic disc coloboma, Nasolacrima... |
ORPHA:141099 |
Triploidy |
|
Cataract, Iris coloboma, Aplasia/Hypoplasia affecting the eye |
ORPHA:3376 |
Mucopolysaccharidosis, Type Ivb |
|
Aortic valve stenosis, Corneal opacity, Mitral regurgitation, Opacification of the corneal stroma |
OMIM:253010 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Brushfield spots, Cataract, Opacification of the corneal stroma |
OMIM:214110 |
Distal Triplication 15Q |
|
Patent ductus arteriosus, Telecanthus, Hypoplastic aortic arch, Corneal dystrophy |
ORPHA:314588 |
1Q21.1 Microdeletion Syndrome |
|
Epicanthus, Cataract, Patent ductus arteriosus, Interrupted aortic arch, Microphthalmia, Iris col... |
ORPHA:250989 |
Anophthalmia Plus Syndrome |
|
Anophthalmia, Iris coloboma |
ORPHA:1104 |
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Microphthalmia, Corneal opacity |
ORPHA:364577 |
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction |
|
Cataract |
OMIM:268315 |
Glycine Encephalopathy 1 |
|
Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Irritability |
OMIM:605899 |
Retinitis Pigmentosa 82 With Or Without Situs Inversus |
|
Posterior subcapsular cataract |
OMIM:615434 |
3-Methylglutaconic Aciduria, Type Viib |
|
Cataract, Zonular cataract |
OMIM:616271 |
Incontinentia Pigmenti |
|
Cataract, Corneal opacity, Abnormal chorioretinal morphology, Telangiectasia of the skin, Keratit... |
ORPHA:464 |
Hartnup Disorder |
|
Emotional lability, Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:234500 |
Microphthalmia, Syndromic 3 |
|
Optic nerve aplasia, Anophthalmia, Cataract, Optic nerve hypoplasia, Sclerocornea, Coloboma, Micr... |
OMIM:206900 |
Mucolipidosis Iii Alpha/Beta |
|
Aortic regurgitation, Opacification of the corneal stroma, Hyperopic astigmatism |
OMIM:252600 |
Trichothiodystrophy 1, Photosensitive |
|
Cataract, Telangiectasia, Microcornea, Keratoconjunctivitis sicca, Microphthalmia |
OMIM:601675 |
Epidermolysis Bullosa Dystrophica, Autosomal Recessive |
|
Cataract, Conjunctivitis, Corneal scarring |
OMIM:226600 |
8p23.1 deletion syndrome |
|
Cryptorchidism, Hyperactivity |
DECIPHER:39 |
Posterior Column Ataxia With Retinitis Pigmentosa |
|
Cataract |
OMIM:609033 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Exaggerated startle response, Cataract, Dilated cardiomyopathy, Pulmonic stenosis, Microphthalmia |
OMIM:253800 |
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction |
|
Cardiomyopathy, Cataract |
OMIM:620089 |
3Q29 Microdeletion Syndrome |
|
Microphthalmia, Cataract, Pulmonary arterial hypertension |
ORPHA:65286 |
Monosomy 13Q14 |
|
Microphthalmia, Cataract, Iris coloboma |
ORPHA:1587 |
Congenital Tufting Enteropathy |
|
Optic disc coloboma, Corneal erosion, Cataract, Punctate keratitis |
ORPHA:92050 |
Hereditary Cryohydrocytosis With Reduced Stomatin |
|
Cataract, Zonular cataract |
ORPHA:168577 |
Multiple Epiphyseal Dysplasia, Beighton Type |
|
Cataract |
ORPHA:166011 |
Classic Galactosemia |
|
Dystonia, Cataract, Postural tremor, Action tremor |
ORPHA:79239 |
Cardiofaciocutaneous Syndrome 4 |
|
Cataract, Optic nerve hypoplasia, Pulmonic stenosis |
OMIM:615280 |
De Barsy Syndrome |
|
Epicanthus, Cataract, Corneal opacity, Patent ductus arteriosus, Hypoplastic aortic arch, Promine... |
ORPHA:2962 |
Acro-Renal-Ocular Syndrome |
|
Cataract, Optic disc hypoplasia, Optic disc coloboma, Microcornea, Coloboma, Chorioretinal colobo... |
ORPHA:959 |
Severe Oculo-Renal-Cerebellar Syndrome |
|
Choreoathetosis, Cataract |
ORPHA:2715 |
Chondrodysplasia Punctata, Autosomal Dominant |
|
Cataract |
OMIM:118650 |
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies |
|
Patent ductus arteriosus, Pseudocoarctation of the aorta |
OMIM:604381 |
Charcot-Marie-Tooth Disease Type 4B2 |
|
Buphthalmos, Developmental glaucoma, Cataract, Tremor |
ORPHA:99956 |
Papillorenal Syndrome |
|
Cataract, Lens luxation, Optic disc coloboma, Chorioretinal atrophy, Hypertension, Retinal colobo... |
OMIM:120330 |
Hypercholesterolemia, Familial, 2 |
|
Corneal arcus |
OMIM:144010 |
Blau Syndrome |
|
Nongranulomatous uveitis, Pericarditis, Cataract, Band keratopathy, Uveitis, Hypertension, Iritis |
OMIM:186580 |
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects |
|
Nuclear cataract, Cataract |
OMIM:608885 |
Retinitis Pigmentosa 10 |
|
Posterior subcapsular cataract |
OMIM:180105 |
Charcot-Marie-Tooth Disease Type 4C |
|
Anisocoria, Head tremor |
ORPHA:99949 |
Neuroocular Syndrome |
|
Hypoplasia of the fovea, Cataract, Remnants of the hyaloid vascular system, Brushfield spots, Len... |
OMIM:619539 |
Fanconi Anemia, Complementation Group I |
|
Microphthalmia, Astigmatism, Optic nerve hypoplasia |
OMIM:609053 |
Koolen-De Vries Syndrome |
|
Epicanthus, Cataract, Iris hypopigmentation, Patent ductus arteriosus, Upslanted palpebral fissur... |
OMIM:610443 |
Alport Syndrome 1, X-Linked |
|
Corneal erosion, Developmental cataract, Hypertension, Anterior lenticonus, Lenticonus |
OMIM:301050 |
Linear Nevus Sebaceus Syndrome |
|
Microphthalmia, Iris coloboma |
ORPHA:2612 |
Intellectual Developmental Disorder And Retinitis Pigmentosa |
|
Posterior subcapsular cataract |
OMIM:618195 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Cardiomyopathy, Cataract, Congestive heart failure |
ORPHA:52430 |
Borjeson-Forssman-Lehmann Syndrome |
|
Cataract |
ORPHA:127 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Nongranulomatous uveitis, Anterior uveitis, Cataract, Choroidal neovascularization, Anterior cham... |
ORPHA:91500 |
Gomez-Lopez-Hernandez Syndrome |
|
Opacification of the corneal stroma |
OMIM:601853 |
Alacrima, Congenital, Autosomal Recessive |
|
Punctate corneal epithelial erosions |
OMIM:601549 |
Mucopolysaccharidosis Type 6 |
|
Opacification of the corneal stroma |
ORPHA:583 |
Aorta Coarctation |
|
Pseudocoarctation of the aorta, Congestive heart failure, Patent ductus arteriosus, Hypoplastic a... |
ORPHA:1457 |
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Cataract |
OMIM:614376 |
Adams-Oliver Syndrome |
|
Gastrointestinal hemorrhage, Cataract, Portal hypertension, Pulmonary arterial hypertension, Micr... |
ORPHA:974 |
Cerebrooculofacioskeletal Syndrome 3 |
|
Microphthalmia |
OMIM:616570 |
Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Epicanthus, Atrial flutter, Overriding aorta, Telecanthus, Patent ductus arteriosus, Vascular rin... |
OMIM:601927 |
Cronkhite-Canada Syndrome |
|
Cataract |
ORPHA:2930 |
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Unilateral microphthalmos, Iris coloboma |
OMIM:618874 |
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Truncal titubation, Cataract |
ORPHA:88628 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Keratitis, Hypertension, Opacification of the corneal stroma, Recurrent corneal erosions, Corneal... |
OMIM:308205 |
Harrod Syndrome |
|
Cataract |
ORPHA:2115 |
Usher Syndrome |
|
Cataract, Vestibular areflexia, Abnormal cardiovascular system physiology, Astigmatism, Hypertrop... |
ORPHA:886 |
Aortic Arch Anomaly With Peculiar Facies And Mental Retardation |
|
Right aortic arch with mirror image branching |
OMIM:107500 |
Kenny-Caffey Syndrome, Type 2 |
|
Microphthalmia, Developmental cataract |
OMIM:127000 |
Congenital-Onset Steinert Myotonic Dystrophy |
|
Bundle branch block, Cataract, First degree atrioventricular block |
ORPHA:589821 |
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome |
|
Microphthalmia, Ocular albinism |
ORPHA:1352 |
Tangier Disease |
|
Corneal opacity |
ORPHA:31150 |
Marinesco-Sjögren Syndrome |
|
Cataract |
ORPHA:559 |
Pelvis-Shoulder Dysplasia |
|
Microcornea, Bilateral microphthalmos, Retinal coloboma, Iris coloboma |
ORPHA:2839 |
Steinfeld Syndrome |
|
Microphthalmia, Retinal coloboma, Iris coloboma |
OMIM:184705 |
Atelis Syndrome 2 |
|
Epicanthus, Remnants of the hyaloid vascular system, Patent ductus arteriosus, Supravalvar pulmon... |
OMIM:620185 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Hyperactivity, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, Irritability, Macro... |
ORPHA:3077 |
Sturge-Weber Syndrome |
|
Conjunctival telangiectasia, Retinal detachment, Corneal dystrophy, Abnormal cerebral vascular mo... |
ORPHA:3205 |
Pai Syndrome |
|
Iris coloboma |
ORPHA:1993 |
Codas Syndrome |
|
Cataract |
ORPHA:1458 |
Retinoblastoma |
|
Vitreous hemorrhage, Leukocoria |
OMIM:180200 |
Acute Radiation Syndrome |
|
Cataract, Hypotension, Telangiectasia |
ORPHA:454831 |
Congenital Heart Defects, Multiple Types, 4 |
|
Aortic valve stenosis, Left ventricular outflow tract obstruction, Tetralogy of Fallot, Coarctati... |
OMIM:615779 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Pterygium, Cataract |
OMIM:224410 |
Igg4-Related Aortitis |
|
Thoracic aortic aneurysm, Abnormal aortic arch morphology, Ascending tubular aorta aneurysm, Dila... |
ORPHA:449400 |
Oculoectodermal Syndrome |
|
Epicanthus, Transient ischemic attack, Patent ductus arteriosus, Chorioretinal atrophy, Coarctati... |
OMIM:600268 |
Retinoblastoma |
|
Subretinal pigment epithelium hemorrhage, Hyphema, Leukocoria, Uveitis, Vitreous hemorrhage, Hypo... |
ORPHA:790 |
Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Optic disc pallor, Highly arched eyebrow, Pulmonary arterial hypertension, Microphthalmia, Tetral... |
OMIM:300887 |
Martsolf Syndrome 1 |
|
Cataract, Cardiac arrest, Congestive heart failure, Developmental cataract, Cardiomyopathy, Micro... |
OMIM:212720 |
Gm1 Gangliosidosis |
|
Generalized dystonia, Corneal opacity, Tremor, Congestive heart failure, Cardiomyopathy, Dystonia |
ORPHA:354 |
Lymphedema-Distichiasis Syndrome |
|
Corneal erosion, Cataract, Conjunctivitis, Arrhythmia |
ORPHA:33001 |
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation |
|
Cataract |
OMIM:618797 |
Mosaic Trisomy 8 |
|
Corneal opacity |
ORPHA:96061 |
Acrofrontofacionasal Dysostosis 1 |
|
Microphthalmia, Iris atrophy |
OMIM:201180 |
Vici Syndrome |
|
Cardiomyopathy, Cataract |
ORPHA:1493 |
Leiomyomatosis, Diffuse, With Alport Syndrome |
|
Cataract, Lenticonus, Anterior lenticonus |
OMIM:308940 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder |
OMIM:301008 |
Schimke Immuno-Osseous Dysplasia |
|
Corneal opacity, Transient ischemic attack, Congestive heart failure, Hypertension, Ischemic stro... |
ORPHA:1830 |
Aortic Valve Disease 3 |
|
Aortic valve stenosis, Ascending aortic dissection, Aortic root aneurysm |
OMIM:618496 |
Retinitis Pigmentosa 43 |
|
Posterior subcapsular cataract |
OMIM:613810 |
Tyrosinemia, Type Ii |
|
Herpetiform corneal ulceration |
OMIM:276600 |
Cutis Laxa, Autosomal Recessive, Type Iiia |
|
Athetosis, Corneal arcus, Cataract |
OMIM:219150 |
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Epicanthus, Highly arched eyebrow, Arteria lusoria, Heart murmur, Anisocoria, Narrow palpebral fi... |
OMIM:618653 |
Aortic Aneurysm, Familial Thoracic 12 |
|
Aortic regurgitation, Ascending tubular aorta aneurysm, Aortic root aneurysm, Ascending aortic di... |
OMIM:619825 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Abnormally large globe, Vascular ring, Mitral regurgitation, Long palpebral fissure, Ptosis |
OMIM:603387 |
Multiple System Atrophy 1, Susceptibility To |
|
Tremor, Iris atrophy, Orthostatic hypotension |
OMIM:146500 |
Transketolase Deficiency |
|
Cataract, Conjunctivitis, Uveitis |
ORPHA:488618 |
Fabry Disease |
|
Conjunctival telangiectasia, Bundle branch block, Cataract, Corneal opacity, Corneal dystrophy, A... |
ORPHA:324 |
Microphthalmia, Syndromic 2 |
|
Retinal detachment, Anophthalmia, Remnants of the hyaloid vascular system, Patent ductus arterios... |
OMIM:300166 |
Osteoporosis-Pseudoglioma Syndrome |
|
Iris atrophy, Cataract, Phthisis bulbi, Absent anterior chamber of the eye, Microphthalmia |
OMIM:259770 |
Retinitis Pigmentosa 72 |
|
Posterior subcapsular cataract |
OMIM:616469 |
Agel Amyloidosis |
|
Cataract, Cardiomyopathy, Keratoconjunctivitis sicca, Arrhythmia, Lattice corneal dystrophy, Corn... |
ORPHA:85448 |
Chromosome 6Pter-P24 Deletion Syndrome |
|
Telangiectasia, Axenfeld anomaly, Opacification of the corneal stroma, Peters anomaly, Ocular ant... |
OMIM:612582 |
Scalp-Ear-Nipple Syndrome |
|
Cataract, Congestive heart failure, Developmental cataract, Anisocoria, Hypertension, Supraventri... |
OMIM:181270 |
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Cataract, Macular coloboma |
OMIM:619260 |
Malignant Atrophic Papulosis |
|
Gastrointestinal hemorrhage, Cataract, Telangiectasia of the skin, Myocardial infarction, Ischemi... |
ORPHA:679 |
Pseudohypoparathyroidism, Type Ic |
|
Cataract |
OMIM:612462 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Hematochezia, Cataract |
OMIM:175500 |
Deafness-Intellectual Disability Syndrome, Martin-Probst Type |
|
Cataract, Telangiectasia of the skin |
ORPHA:85321 |
Albinism-Deafness Syndrome |
|
Heterochromia iridis |
ORPHA:998 |
Hurler Syndrome |
|
Aortic regurgitation, Corneal opacity, Cardiomyopathy, Mitral regurgitation, Opacification of the... |
OMIM:607014 |
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome |
|
Microphthalmia, Iris coloboma |
ORPHA:1236 |
Farber Disease |
|
Abnormal conjunctiva morphology, Corneal opacity, Opacification of the corneal stroma |
ORPHA:333 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Telangiectasia of the oral mucosa, Telangiectasia of the skin, Lip telangiectasia, Opacification ... |
ORPHA:79280 |
Cerebrooculonasal Syndrome |
|
Hypoplasia of penis, Anophthalmia |
ORPHA:66625 |
Jaberi-Elahi Syndrome |
|
Tremor, Cataract, Choreoathetosis, Dystonia |
OMIM:617988 |
Congenital Heart Defects, Multiple Types, 7 |
|
Aortopulmonary collateral arteries, Right aortic arch, Pulmonic stenosis, Pulmonary artery atresi... |
OMIM:618780 |
Zimmermann-Laband Syndrome 1 |
|
Aortic arch aneurysm, Cataract, Highly arched eyebrow, Synophrys, Patent ductus arteriosus, Cardi... |
OMIM:135500 |
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome |
|
Resting tremor, Cataract, Head tremor |
ORPHA:314404 |
Dysbetalipoproteinemia |
|
Accelerated atherosclerosis, Angina pectoris, Type IV atherosclerotic lesion, Peripheral arterial... |
ORPHA:412 |
Cach Syndrome |
|
Cataract |
ORPHA:135 |
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy |
|
Cataract |
ORPHA:544503 |
Short Stature-Micrognathia Syndrome |
|
Astigmatism, Cataract |
OMIM:617164 |
Congenital Heart Defects, Multiple Types, 6 |
|
Hypoplastic pulmonary veins, Left ventricular outflow tract obstruction, Coarctation of aorta, Ri... |
OMIM:613854 |
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome |
|
Dilated cardiomyopathy, Cataract |
ORPHA:70595 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Ectopia pupillae, Pulmonic stenosis |
OMIM:618223 |
19Q13.11 Microdeletion Syndrome |
|
Microcornea, Cataract |
ORPHA:217346 |
Mucopolysaccharidosis Type 1 |
|
Congestive heart failure, Hypertrophic cardiomyopathy, Corneal opacity |
ORPHA:579 |
Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Microphthalmia, Cataract |
OMIM:302960 |
Moebius Syndrome |
|
Corneal opacity |
ORPHA:570 |
Dyggve-Melchior-Clausen Disease |
|
Corneal opacity |
ORPHA:239 |
Noonan Syndrome 10 |
|
Epicanthus, Mitral stenosis, Prominent corneal nerve fibers, Sparse eyebrow, Patent ductus arteri... |
OMIM:616564 |
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome |
|
Telecanthus, Tricuspid regurgitation, Synophrys, Coarctation of aorta, Peters anomaly, Downslante... |
OMIM:618929 |
Sifrim-Hitz-Weiss Syndrome |
|
Epicanthus, Patent ductus arteriosus, Coarctation of aorta, Upslanted palpebral fissure, Astigmat... |
OMIM:617159 |
Microphthalmia With Limb Anomalies |
|
Microphthalmia, Anophthalmia, Unilateral cryptorchidism |
OMIM:206920 |
Atrioventricular Septal Defect, Susceptibility To, 2 |
|
Pulmonary artery atresia, Right aortic arch with mirror image branching |
OMIM:606217 |
Pseudohypoparathyroidism, Type Ia |
|
Cataract |
OMIM:103580 |
Testicular Regression Syndrome |
|
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... |
ORPHA:983 |
Autosomal Dominant Optic Atrophy, Classic Form |
|
Cataract |
ORPHA:98673 |
3-Methylglutaconic Aciduria Type 7 |
|
Choreoathetosis, Cardiomyopathy, Cataract, Opisthotonus |
ORPHA:445038 |
Cat Eye Syndrome |
|
Epicanthus, Patent ductus arteriosus, Total anomalous pulmonary venous return, Pulmonic stenosis,... |
OMIM:115470 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Papilledema, Atrioventricular block, Double outlet right ventricle, Abnormality of the orbital re... |
ORPHA:371428 |
Retinitis Pigmentosa 60 |
|
Posterior subcapsular cataract |
OMIM:613983 |
Solitary Median Maxillary Central Incisor |
|
Microphthalmia, Anterior hypopituitarism, Anophthalmia, Decreased response to growth hormone stim... |
OMIM:147250 |
Genitopalatocardiac Syndrome |
|
Right aortic arch, Double outlet right ventricle, Transposition of the great arteries |
OMIM:231060 |
Werner Syndrome |
|
Cataract |
OMIM:277700 |
Facial Clefting, Oblique, 1 |
|
Microphthalmia, Coloboma |
OMIM:600251 |
Trisomy 1Q |
|
Ambiguous genitalia, Cryptorchidism, Anophthalmia, Small scrotum |
ORPHA:261344 |
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Arteriovenous malformation, Overriding aorta, Downslanted palpebral fissures, Abnormal aortic arc... |
ORPHA:1110 |
Xk Aprosencephaly Syndrome |
|
Microphthalmia, Abnormal external genitalia |
ORPHA:3469 |
Superficial Siderosis |
|
Anisocoria, Internal hemorrhage, Subarachnoid hemorrhage |
ORPHA:247245 |
Mevalonic Aciduria |
|
Nuclear cataract, Cataract |
OMIM:610377 |
Gaucher Disease, Type Iiic |
|
Mitral stenosis, Opacification of the corneal stroma |
OMIM:231005 |
Adams-Oliver Syndrome 4 |
|
Microphthalmia, Patent ductus arteriosus |
OMIM:615297 |
Premature Aging Syndrome, Penttinen Type |
|
Corneal stromal edema, Microphthalmia, Corneal opacity |
OMIM:601812 |
Curry-Jones Syndrome |
|
Microphthalmia, Iris coloboma |
OMIM:601707 |
Mednik Syndrome |
|
Cataract |
OMIM:609313 |
Mycophenolate Mofetil Embryopathy |
|
Coarctation of aorta, Eyelid coloboma, Chorioretinal coloboma, Microphthalmia, Iris coloboma |
ORPHA:268249 |
Albinism, Oculocutaneous, Type Ia |
|
Hypoplasia of the fovea, Astigmatism, Blue irides, Ocular albinism |
OMIM:203100 |
Mosaic Variegated Aneuploidy Syndrome |
|
Aortic regurgitation, Microphthalmia, Cataract, Corneal opacity |
ORPHA:1052 |
Mosaic Trisomy 9 |
|
Microphthalmia, Corneal opacity |
ORPHA:99776 |
Hurler Syndrome |
|
Cardiomyopathy, Corneal opacity, Angina pectoris, Hypertension |
ORPHA:93473 |
Baraitser-Winter Syndrome 2 |
|
Telecanthus, Highly arched eyebrow, Coloboma, Long palpebral fissure, Microphthalmia, Ptosis |
OMIM:614583 |
Vacterl With Hydrocephalus |
|
Microcornea, Microphthalmia, Anophthalmia |
ORPHA:3412 |
Jacobsen Syndrome |
|
Nasolacrimal duct obstruction, Microcornea, Macular hypoplasia, Chorioretinal coloboma, Microphth... |
OMIM:147791 |
Cowden Syndrome 5 |
|
Cataract, Intention tremor |
OMIM:615108 |
Ciliary Dyskinesia, Primary, 1 |
|
Abnormal cornea morphology |
OMIM:244400 |
Duane-Radial Ray Syndrome |
|
Cataract, Optic disc hypoplasia, Retinal coloboma, Microphthalmia, Iris coloboma |
OMIM:607323 |
Bickerstaff Brainstem Encephalitis |
|
Anisocoria, Mydriasis |
ORPHA:79138 |
Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Hyperactivity, Aggressive behavior, Blue irides, Diminished ability to concentrate, Recurrent han... |
OMIM:615516 |
Cerebrotendinous Xanthomatosis |
|
Cataract, Angina pectoris, Myocardial infarction |
OMIM:213700 |
Joubert Syndrome 14 |
|
Epicanthus, Highly arched eyebrow, Morning glory anomaly, Optic atrophy, Intracranial hemorrhage,... |
OMIM:614424 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Peripheral opacification of the cornea, Corneal opacity |
OMIM:259600 |
Sponastrime Dysplasia |
|
Microcoria, Cataract, Congenital aphakia |
ORPHA:93357 |
Neurocardiofaciodigital Syndrome |
|
Cataract, Sclerocornea |
OMIM:619869 |
Bosma Arhinia Microphthalmia Syndrome |
|
Microphthalmia, Coloboma, Cataract |
OMIM:603457 |
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome |
|
Cataract |
ORPHA:543470 |
Mowat-Wilson Syndrome |
|
Cataract, Pulmonary artery sling, Patent ductus arteriosus, Pulmonary artery stenosis, Microcorne... |
OMIM:235730 |
Familial Adenomatous Polyposis Due To 5Q22.2 Microdeletion |
|
Posterior polar cataract |
ORPHA:261584 |
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome |
|
Corneal opacity, Optic nerve hypoplasia, Corneal dystrophy, Buphthalmos, Keratoconjunctivitis sicca |
ORPHA:495875 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant |
|
Keratitis, Corneal scarring, Keratoconjunctivitis sicca, Recurrent corneal erosions, Corneal ulce... |
OMIM:148210 |
Cutis Laxa, Autosomal Recessive, Type Iiib |
|
Athetosis, Developmental glaucoma, Cataract |
OMIM:614438 |
Tatton-Brown-Rahman Syndrome |
|
Tricuspid regurgitation, Supraventricular tachycardia with an accessory connection mediated pathw... |
ORPHA:404443 |
Autoimmune Polyendocrine Syndrome, Type Ii |
|
Cataract, Keratoconjunctivitis, Band keratopathy |
OMIM:269200 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Hypertension, Arrhythmia, Abnormal aortic morphology, Cardiomyopathy |
ORPHA:3222 |
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Epicanthus, Cataract, Sparse eyelashes, Sparse eyebrow, Eyelid coloboma, Microphthalmia, Tetralog... |
ORPHA:306542 |
Neu-Laxova Syndrome 2 |
|
Cataract |
OMIM:616038 |
Rabin-Pappas Syndrome |
|
Cataract, Optic nerve hypoplasia, Retinal telangiectasia |
OMIM:620155 |
Oculodentodigital Dysplasia |
|
Cataract, Uveitis, Microcornea, Microphthalmia, Arrhythmia |
OMIM:164200 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Thoracic aortic aneurysm, Patent ductus arteriosus, Bidirectional shunt, Elevated pulmonary arter... |
OMIM:619351 |
Mucopolysaccharidosis, Type Vii |
|
Cardiomyopathy, Corneal opacity |
OMIM:253220 |
Aortic Aneurysm, Familial Thoracic 10 |
|
Aortic arch aneurysm, Thoracic aortic aneurysm, Fusiform ascending tubular aorta aneurysm, Ascend... |
OMIM:617168 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Epicanthus, Tricuspid regurgitation, Lacrimal duct stenosis, Optic nerve hypoplasia, Highly arche... |
OMIM:617506 |
Trisomy 18 |
|
Cataract, Microcornea, Microphthalmia, Cyclopia, Iris coloboma |
ORPHA:3380 |
Hallermann-Streiff Syndrome |
|
Cataract, Optic disc coloboma, Telangiectasia, Choreoathetosis, Hypertension, Pulmonary arterial ... |
OMIM:234100 |
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Nail-biting, Hyperactivity, Aggressive behavior, Self-biting, Self-injurious behavior, Inappropri... |
OMIM:619827 |
Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Testicular atrophy, Decreased fertility, Dysphagia |
OMIM:313200 |
Aortic Aneurysm, Familial Thoracic 7 |
|
Descending aortic dissection, Aortic aneurysm, Ascending aortic dissection, Aortic rupture |
OMIM:613780 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Tachycardia, Cataract, Generalized dystonia, Dilated cardiomyopathy, Dystonia |
OMIM:618321 |
20Q13.33 Microdeletion Syndrome |
|
Epicanthus, Dilation of Virchow-Robin spaces, Highly arched eyebrow, Hypoplastic aortic arch, Hem... |
ORPHA:261311 |
Lathosterolosis |
|
Microcornea, Cataract, Opacification of the corneal stroma |
ORPHA:46059 |
Incontinentia Pigmenti |
|
Hypoplasia of the fovea, Cataract, Keratitis, Retinal hemorrhage, Uveitis, Microphthalmia |
OMIM:308300 |
Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Hyperactivity, Impulsivity, Aggressive behavior, Myopic astigmatism, Developmental cataract, Atte... |
OMIM:620141 |
Hypoplastic Left Heart Syndrome 1 |
|
Aortic valve stenosis, Coarctation of aorta |
OMIM:241550 |
Arthrogryposis And Ectodermal Dysplasia |
|
Nuclear cataract |
OMIM:601701 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Corneal opacity |
ORPHA:79396 |
Basal Cell Nevus Syndrome 1 |
|
Microphthalmia, Cataract, Iris coloboma |
OMIM:109400 |
Ciliary Dyskinesia, Primary, 40 |
|
Right aortic arch, Patent ductus arteriosus, Interrupted inferior vena cava with azygous continua... |
OMIM:618300 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Carotid artery stenosis, Bilateral ptosis, Prominent veins on trunk, Varicose veins, Keratoconjun... |
ORPHA:536532 |
Cowden Syndrome 6 |
|
Cataract, Intention tremor |
OMIM:615109 |
Mucopolysaccharidosis, Type Vi |
|
Tricuspid regurgitation, Corneal opacity, Cardiomyopathy, Mitral regurgitation, Pulmonary arteria... |
OMIM:253200 |
Brittle Cornea Syndrome |
|
Corneal dystrophy, Corneal erosion, Corneal scarring, Keratoglobus, Decreased corneal thickness, ... |
ORPHA:90354 |
Coarctation Of Aorta |
|
Coarctation of aorta |
OMIM:120000 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Epicanthus, Sparse eyebrow, Developmental cataract, Microcornea, Left superior vena cava draining... |
ORPHA:464738 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Microphthalmia |
OMIM:614830 |
Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Hypertension, Long eyelashes, Coarctation of aorta |
OMIM:616069 |
Monosomy 9Q22.3 |
|
Microphthalmia, Cataract |
ORPHA:77301 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Epicanthus, Aortic valve stenosis, Cataract, Coarctation of aorta |
ORPHA:2780 |
Alg8-Cdg |
|
Cataract |
ORPHA:79325 |
Corneodermatoosseous Syndrome |
|
Corneal dystrophy |
ORPHA:3194 |
Oculocerebrorenal Syndrome Of Lowe |
|
Cataract, Corneal opacity, Chorioretinal dysplasia, Abnormal pupil morphology, Buphthalmos, Lenti... |
ORPHA:534 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2 |
|
Cataract, Tremor, Hypertension, Arrhythmia, Hypertrophic cardiomyopathy, Intention tremor |
OMIM:614052 |
Pheochromocytoma |
|
Tachycardia, Cerebral hemorrhage, Congestive heart failure, Developmental cataract, Episodic hype... |
OMIM:171300 |
Manitoba Oculotrichoanal Syndrome |
|
Microphthalmia, Anophthalmia, Vaginal atresia |
OMIM:248450 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Cataract, Buphthalmos, Coloboma, Hypoplasia of the retina, Opacification of the corneal stroma, M... |
OMIM:253280 |
Kallmann Syndrome-Heart Disease Syndrome |
|
Aortic regurgitation, Anomalous origin of left coronary artery from the pulmonary artery, Congest... |
ORPHA:2326 |
Zimmermann-Laband Syndrome |
|
Cataract |
ORPHA:3473 |
Rothmund-Thomson Syndrome, Type 2 |
|
Cataract, Telangiectasia, Microcornea, Microphthalmia, Zonular cataract |
OMIM:268400 |
Cap Myopathy |
|
Aortic root aneurysm, Reduced systolic function, Sinus tachycardia |
ORPHA:171881 |
Pituitary Apoplexy |
|
Hypertension, Hypotension, Mydriasis |
ORPHA:95613 |
Behcet Syndrome |
|
Raynaud phenomenon, Iridocyclitis, Chorioretinitis, Iritis, Hypopyon |
OMIM:109650 |
22Q11.2 Duplication Syndrome |
|
Epicanthus, Transposition of the great arteries, Interrupted aortic arch, Tetralogy of Fallot, Do... |
ORPHA:1727 |
47,Xyy Syndrome |
|
Male infertility, Hyperactivity, Hypospadias, Impulsivity, Cryptorchidism, Increased circulating ... |
ORPHA:8 |
Axial Spondylometaphyseal Dysplasia |
|
Cataract |
ORPHA:168549 |
Cocaine Intoxication |
|
Prolonged QT interval, Tachycardia, Prolonged QRS complex, Myocardial infarction, Diffuse alveola... |
ORPHA:90068 |
Kennedy Disease |
|
Type II diabetes mellitus, Testicular atrophy, Decreased fertility, Erectile dysfunction |
ORPHA:481 |
Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Microphthalmia, Corneal opacity |
OMIM:608670 |
Tetraamelia Syndrome 1 |
|
Microphthalmia, Cataract |
OMIM:273395 |
Skraban-Deardorff Syndrome |
|
Right aortic arch, Sparse lateral eyebrow |
OMIM:617616 |
Kniest Dysplasia |
|
Cataract |
OMIM:156550 |
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Cataract |
OMIM:220500 |
Arrhinia-Choanal Atresia-Microphthalmia Syndrome |
|
Microphthalmia, Hypogonadotropic hypogonadism |
ORPHA:1135 |
Autosomal Dominant Coarctation Of Aorta |
|
Aortic arch aneurysm, Patent ductus arteriosus, Abnormal aortic arch morphology |
ORPHA:1455 |
Hermansky-Pudlak Syndrome |
|
Gastrointestinal hemorrhage, Cataract, Epistaxis, Ocular albinism, Cardiomyopathy, Astigmatism, I... |
ORPHA:79430 |
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma |
|
Presenile cataracts |
OMIM:112250 |
Developmental And Epileptic Encephalopathy 1 |
|
Microphthalmia, Micropenis, Dysphagia |
OMIM:308350 |
Alternating Hemiplegia Of Childhood |
|
Cardiac conduction abnormality, Tremor, Choreoathetosis, Cardiomyopathy, Dystonia, Abnormal T-wav... |
ORPHA:2131 |
Lowe Oculocerebrorenal Syndrome |
|
Dense posterior cortical cataract, Corneal scarring, Developmental cataract |
OMIM:309000 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Retinal detachment, Epicanthus, Cataract, Abnormal nasolacrimal system morphology, Anophthalmia, ... |
ORPHA:2526 |
Wolf-Hirschhorn Syndrome |
|
Ectopia pupillae, Iris coloboma, Rieger anomaly |
OMIM:194190 |
Cockayne Syndrome Type 1 |
|
Anophthalmia, Cataract, Cryptorchidism, Conjunctivitis, Male hypogonadism |
ORPHA:90321 |
Fixed Subaortic Stenosis |
|
Aortic regurgitation, Paroxysmal atrial fibrillation, Angina pectoris, Congestive heart failure, ... |
ORPHA:3092 |
Limb Body Wall Complex |
|
Lens subluxation, Corneal opacity, Iris coloboma |
ORPHA:2369 |
Joubert Syndrome 22 |
|
Microphthalmia, Coloboma, Retinal dysplasia |
OMIM:615665 |
Fragile X Syndrome |
|
Macroorchidism, postpubertal, Hyperactivity, Self-biting, Recurrent hand flapping, Congenital mac... |
OMIM:300624 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Resting tremor, Cataract, Hand tremor |
OMIM:157640 |
Mend Syndrome |
|
Microphthalmia, Aortic valve stenosis, Cataract |
ORPHA:401973 |
Stevenson-Carey Syndrome |
|
Microphthalmia, Coloboma, Downslanted palpebral fissures, Left superior vena cava draining to cor... |
OMIM:611961 |
Aortic Aneurysm, Familial Thoracic 9 |
|
Ascending aortic dissection, Atrial fibrillation, Thoracic aortic aneurysm, Aortic tortuosity |
OMIM:616166 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Ocular anterior segment dysgenesis, Bilateral microphthalmos |
ORPHA:369891 |
Mosaic Trisomy 1 |
|
Coarctation of aorta, Congenital bilateral ptosis, Opacification of the corneal stroma, Pulmonary... |
ORPHA:1692 |
Fanconi Anemia |
|
Cataract, Aplasia/Hypoplasia of the iris, Astigmatism, Microphthalmia, Hypertrophic cardiomyopathy |
ORPHA:84 |
Neurofibromatosis Type 1 |
|
Cataract, Corneal opacity, Hypertension, Chorioretinal coloboma, Lisch nodules, Heterochromia iridis |
ORPHA:636 |
Alpha-Mannosidosis, Infantile Form |
|
Aortic regurgitation, Cataract, Corneal opacity, Mitral regurgitation, Astigmatism |
ORPHA:309282 |
Bone Fragility With Contractures, Arterial Rupture, And Deafness |
|
Cataract, Arterial rupture |
OMIM:612394 |
Stickler Syndrome, Type I |
|
Cataract |
OMIM:108300 |
Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Microphthalmia |
OMIM:615771 |
Tbck-Related Intellectual Disability Syndrome |
|
Corneal opacity, Pulmonic stenosis |
ORPHA:488632 |
Ablepharon Macrostomia Syndrome |
|
Corneal erosion, Corneal opacity |
ORPHA:920 |
Oculotrichoanal Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2717 |
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type) |
|
Cataract, Choreoathetosis, Arrhythmia, Dystonia, Hypertrophic cardiomyopathy |
OMIM:615471 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Microphthalmia, Cyclopia, Iris coloboma |
ORPHA:3186 |
Schimke Immunoosseous Dysplasia |
|
Transient ischemic attack, Hypertension, Astigmatism, Cerebral ischemia, Opacification of the cor... |
OMIM:242900 |
Isolated Congenital Alacrima |
|
Keratitis, Lacrimal gland hypoplasia, Corneal erosion, Conjunctivitis |
ORPHA:91416 |
Microphthalmia, Syndromic 1 |
|
Anophthalmia, Optic disc coloboma, Microcornea, Ciliary body coloboma, Chorioretinal coloboma, Mi... |
OMIM:309800 |
Cousin Syndrome |
|
Microcornea, Microphthalmia |
OMIM:260660 |
Chime Syndrome |
|
Corneal opacity, Retinal coloboma |
ORPHA:3474 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Cataract, Highly arched eyebrow, Congestive heart failure, Synophrys, Patent ductus arteriosus, A... |
ORPHA:444077 |
Pseudohypoparathyroidism Type 1B |
|
Laryngeal dystonia, Cataract, Conjunctivitis, Prolonged QT interval |
ORPHA:94089 |
Cohen Syndrome |
|
Microphthalmia, Chorioretinal dystrophy, Iris coloboma |
ORPHA:193 |
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome |
|
Hyperactivity, Hypospadias, Optic nerve hypoplasia, Hyperopic astigmatism, Astigmatism, Tics, Low... |
ORPHA:363686 |
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... |
OMIM:308700 |
Vascular Ehlers-Danlos Syndrome |
|
Abnormal pupil morphology, Internal hemorrhage, Keratoconus, Peripheral arteriovenous fistula, Ab... |
ORPHA:286 |
Isotretinoin-Like Syndrome |
|
Patent ductus arteriosus, Abnormal aortic arch morphology, Conotruncal defect, Upslanted palpebra... |
ORPHA:2306 |
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency |
|
Retinal detachment, Congestive heart failure, Arterial rupture, Microcornea, Aortic dissection, A... |
ORPHA:1900 |
Oculodentodigital Dysplasia |
|
Microcornea, Arrhythmia, Cataract, Abnormality iris morphology |
ORPHA:2710 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Anophthalmia, Corneal opacity, Chorioretinal dysplasia, Sclerocornea, Tricuspid regurgitation, Di... |
ORPHA:2556 |
Fanconi Anemia, Complementation Group G |
|
Microphthalmia |
OMIM:614082 |
Classical Ehlers-Danlos Syndrome |
|
Orthostatic hypotension, Epicanthus, Dermatochalasis, Arterial rupture, Mitral regurgitation, Ble... |
ORPHA:287 |
Trisomy 17P |
|
Aortic valve stenosis, Cataract |
ORPHA:261290 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Aortic regurgitation, Aortic valve stenosis, Astigmatism, Corneal opacity |
ORPHA:464311 |
Yuan-Harel-Lupski Syndrome |
|
Epicanthus, Upslanted palpebral fissure, Aortic root aneurysm, Double outlet right ventricle, Dow... |
OMIM:616652 |
Holoprosencephaly |
|
Epicanthus, Anophthalmia, Cyclopia, Highly arched eyebrow, Synophrys, Optic atrophy, Upslanted pa... |
ORPHA:2162 |
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia |
|
Nuclear cataract |
ORPHA:1010 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Absent eyebrow, Absent eyelashes, Congestive heart failure, Intracranial hemorrhage, Hypertension... |
ORPHA:363618 |
Craniotelencephalic Dysplasia |
|
Microphthalmia, Optic nerve hypoplasia |
OMIM:218670 |
Craniotelencephalic Dysplasia |
|
Microphthalmia, Septo-optic dysplasia |
ORPHA:1528 |
Tetrasomy 15Q26 |
|
Patent ductus arteriosus, Hypoplastic aortic arch, Downslanted palpebral fissures |
OMIM:614846 |
Congenital Disorder Of Deglycosylation 1 |
|
Athetosis, Corneal ulceration, Corneal opacity, Action tremor |
OMIM:615273 |
Cerebellofaciodental Syndrome |
|
Cataract |
OMIM:616202 |
Congenital Toxoplasmosis |
|
Microphthalmia, Cognitive impairment |
ORPHA:858 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Cataract, Prolonged QRS complex, Left axis deviation, Congestive heart failure, ST segment elevat... |
OMIM:261740 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Iridocyclitis, Cataract, Keratoconjunctivitis |
OMIM:240300 |
Intellectual Developmental Disorder, X-Linked 21 |
|
Macroorchidism, Hyperactivity, Impulsivity |
OMIM:300143 |
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked |
|
Corneal scarring |
OMIM:301220 |
Autosomal Dominant Kenny-Caffey Syndrome |
|
Bilateral microphthalmos, Developmental cataract |
ORPHA:93325 |
Cenani-Lenz Syndrome |
|
Cataract |
ORPHA:3258 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Cataract |
ORPHA:90153 |
Joubert Syndrome 37 |
|
Microphthalmia, Micropenis, Decreased testicular size, Cryptorchidism |
OMIM:619185 |
Mucopolysaccharidosis, Type Iva |
|
Opacification of the corneal stroma |
OMIM:253000 |
Kaufman Oculocerebrofacial Syndrome |
|
Optic disc pallor, Epicanthus, Telecanthus, Sparse eyebrow, Coarctation of aorta, Upslanted palpe... |
OMIM:244450 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Abnormally large globe, Developmental glaucoma, Aortic root aneurysm, Downslanted palpebral fissu... |
OMIM:245600 |
Microcephaly 20, Primary, Autosomal Recessive |
|
Optic nerve hypoplasia, Hypoplasia of the uterus, Attention deficit hyperactivity disorder, Micro... |
OMIM:617914 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
Tremor, Athetosis, Cataract, Dystonia |
OMIM:615356 |
Retinitis Punctata Albescens |
|
Retinal atrophy, Macular atrophy, Retinal pigment epithelial mottling, Absent foveal reflex, Pigm... |
ORPHA:52427 |
Knobloch Syndrome |
|
Cataract, Ectopia lentis |
ORPHA:1571 |
Hereditary Fructose Intolerance |
|
Cataract |
ORPHA:469 |
Teebi Hypertelorism Syndrome 1 |
|
Highly arched eyebrow, Bilateral ptosis, Upslanted palpebral fissure, Aortic root aneurysm, Downs... |
OMIM:145420 |
Partial Atrioventricular Septal Defect |
|
Atrial flutter, Angina pectoris, Transient ischemic attack, Patent ductus arteriosus, Tetralogy o... |
ORPHA:1330 |
Saul-Wilson Syndrome |
|
Cataract |
OMIM:618150 |
Aortic Aneurysm, Familial Thoracic 8 |
|
Coronary artery dissection, Descending aortic dissection, Coronary artery aneurysm, Ascending aor... |
OMIM:615436 |
Arachnoid Cyst |
|
Subarachnoid hemorrhage, Mydriasis |
ORPHA:2356 |
Hypoplastic Left Heart Syndrome |
|
Patent ductus arteriosus, Mitral stenosis, Hypoplastic aortic arch |
ORPHA:2248 |
Juvenile Xanthogranuloma |
|
Uveitis, Hyphema, Iritis, Asymmetry of iris pigmentation |
ORPHA:158000 |
Microphthalmia, Syndromic 11 |
|
Microphthalmia, Agenesis of pineal gland |
OMIM:614402 |
2Q31.1 Microdeletion Syndrome |
|
Microphthalmia, Coloboma, Optic disc coloboma, Iris coloboma |
ORPHA:251014 |
Microphthalmia, Syndromic 9 |
|
Anophthalmia, Cryptorchidism, Bilateral microphthalmos, Hypoplasia of the uterus, Bicornuate uterus |
OMIM:601186 |
Ehlers-Danlos Syndrome, Classic-Like, 2 |
|
Prominent superficial veins, Carotid artery stenosis, Bilateral ptosis, Aortic root aneurysm, Thi... |
OMIM:618000 |
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development |
|
Megalocornea, Cataract |
OMIM:601353 |
Chromosome 13Q14 Deletion Syndrome |
|
Microphthalmia, Iris coloboma, Chorioretinal coloboma |
OMIM:613884 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Aortic regurgitation, Unilateral ptosis, Optic nerve hypoplasia, Almond-shaped palpebral fissure,... |
ORPHA:508498 |
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Abnormality of the pulmonary artery, Tetralogy of Fallot, Abnormal aortic morphology |
ORPHA:1166 |
Otospondylomegaepiphyseal Dysplasia |
|
Cataract |
ORPHA:1427 |
Craniotubular Dysplasia, Ikegawa Type |
|
Phthisis bulbi, Mydriasis |
OMIM:619727 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Cataract, Supraventricular arrhythmia, Band keratopathy |
ORPHA:2959 |
Larsen Syndrome |
|
Corneal opacity |
OMIM:150250 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Corneal opacity, Optic nerve hypoplasia, Posterior subcapsular cataract, Optic disc coloboma, Aor... |
ORPHA:536471 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type |
|
Mitral regurgitation, Aortic root aneurysm |
OMIM:301039 |
Hallermann-Streiff Syndrome |
|
Microphthalmia, Congestive heart failure, Uveitis, Developmental cataract |
ORPHA:2108 |
Intellectual Developmental Disorder, Autosomal Dominant 66 |
|
Aortic root aneurysm, Transposition of the great arteries, Cerebral cavernous malformation |
OMIM:619910 |
Progeroid Short Stature With Pigmented Nevi |
|
Allergic conjunctivitis, Cataract, Aortic valve stenosis |
OMIM:176690 |
Marshall Syndrome |
|
Cataract, Ectopia lentis |
ORPHA:560 |
Kindler Epidermolysis Bullosa |
|
Conjunctivitis, Corneal opacity |
ORPHA:2908 |
Truncus Arteriosus |
|
Aortic regurgitation, Tachycardia, Single coronary artery origin, Abnormal coronary artery morpho... |
ORPHA:3384 |
Treacher-Collins Syndrome |
|
Blepharospasm, Microphthalmia, Cataract, Iris coloboma |
ORPHA:861 |
Myoclonic-Astatic Epilepsy |
|
Microphthalmia, Hyperactivity, Abnormal emotion, Attention deficit hyperactivity disorder |
ORPHA:1942 |
Alkuraya-Kucinskas Syndrome |
|
Cataract |
OMIM:617822 |
Cowden Syndrome 1 |
|
Cataract, Intention tremor |
OMIM:158350 |
Scorpion Envenomation |
|
Bundle branch block, Tachycardia, Cardiac conduction abnormality, Tremor, Congestive heart failur... |
ORPHA:466677 |
X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Keratitis, Cataract, Anterior lenticonus |
ORPHA:1018 |
Graves Disease, Susceptibility To, 1 |
|
Decreased thyroid-stimulating hormone level, Hyperactivity, Increased circulating free T4 concent... |
OMIM:275000 |
Classic Homocystinuria |
|
Gastrointestinal hemorrhage, Cataract, Pulmonary embolism, Ectopia lentis, Intracranial hemorrhag... |
ORPHA:394 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Aortic regurgitation, Aortic valve stenosis, Astigmatism, Corneal opacity |
ORPHA:464306 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Thoracic aortic aneurysm, Microcornea, Ascending tubular aorta aneurysm, Aortic root aneurysm, St... |
ORPHA:536467 |
Intellectual Developmental Disorder, Autosomal Dominant 21 |
|
Patent ductus arteriosus, Epicanthus, Long eyelashes, Coarctation of aorta |
OMIM:615502 |
Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Microphthalmia, Hypoplasia of penis |
ORPHA:2547 |
Mucopolysaccharidosis Type 3 |
|
Cataract, Corneal opacity, Atrioventricular block, Reduced left ventricular ejection fraction, Op... |
ORPHA:581 |
Tricuspid Atresia |
|
Pulmonary artery atresia, Persistent left superior vena cava, Transposition of the great arteries... |
ORPHA:1209 |
Autosomal Dominant Cutis Laxa |
|
Aortic regurgitation, Corneal opacity, Congestive heart failure, Developmental cataract, Mitral r... |
ORPHA:90348 |
Xeroderma Pigmentosum |
|
Conjunctival telangiectasia, Cataract, Telangiectasia of the skin, Keratitis, Telangiectasia, Opa... |
ORPHA:910 |
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome |
|
Blepharophimosis, Truncus arteriosus, Abnormal aortic morphology |
ORPHA:2516 |
Osteopetrosis, Autosomal Recessive 5 |
|
Mydriasis |
OMIM:259720 |
3-Methylglutaconic Aciduria, Type Viii |
|
Tremor, Cataract, Bradycardia, Dystonia |
OMIM:617248 |
Infantile Nephropathic Cystinosis |
|
Abnormal cornea morphology, Corneal crystals |
ORPHA:411629 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Brushfield spots, Cataract, Opacification of the corneal stroma |
OMIM:214100 |
14Q22Q23 Microdeletion Syndrome |
|
Optic nerve aplasia, Anophthalmia, Small scrotum, Anterior pituitary hypoplasia, Adrenal hypoplas... |
ORPHA:264200 |
Carpenter Syndrome 1 |
|
Microcornea, Pulmonic stenosis, Opacification of the corneal stroma |
OMIM:201000 |
Alagille Syndrome 1 |
|
Cataract, Band keratopathy, Abnormal anterior chamber morphology, Tetralogy of Fallot, Chorioreti... |
OMIM:118450 |
Moebius Syndrome |
|
Hypogonadotropic hypogonadism, Dysphagia, Microphthalmia, Micropenis, Decreased testicular size |
OMIM:157900 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Noncompaction cardiomyopathy, Tricuspid regurgitation, Cataract, Congestive heart failure |
ORPHA:508542 |
Aicardi Syndrome |
|
Microphthalmia, Optic disc coloboma, Cataract, Chorioretinal lacunae |
OMIM:304050 |
Atrial Septal Defect 4 |
|
Coarctation of aorta |
OMIM:611363 |
Down Syndrome |
|
Cataract |
ORPHA:870 |
Absence Of The Pulmonary Artery |
|
Abnormal EKG, Atrial flutter, Atrial fibrillation, Tachycardia, Abnormal coronary artery morpholo... |
ORPHA:980 |
Ciliary Dyskinesia, Primary, 37 |
|
Right aortic arch |
OMIM:617577 |
Fanconi Anemia, Complementation Group J |
|
Microphthalmia |
OMIM:609054 |
Transaldolase Deficiency |
|
Coarctation of aorta, Telangiectasia |
ORPHA:101028 |
Heterotaxy, Visceral, 4, Autosomal |
|
Dextrotransposition of the great arteries, Right aortic arch, Interrupted inferior vena cava with... |
OMIM:613751 |
17Q12 Microduplication Syndrome |
|
Microphthalmia, Self-injurious behavior |
ORPHA:261272 |
Oculogastrointestinal Neurodevelopmental Syndrome |
|
Unilateral ptosis, Coloboma, Bilateral microphthalmos, Unilateral microphthalmos |
OMIM:619318 |
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Microphthalmia, Small scrotum, Hypogonadism, Cryptorchidism |
ORPHA:228390 |
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
|
Decreased serum insulin-like growth factor 1, Hyperactivity, Elevated circulating growth hormone ... |
ORPHA:85327 |
Mucopolysaccharidosis Type 2, Severe Form |
|
Papilledema, Abnormality of retinal pigmentation, Corneal opacity, Abnormal foveal morphology, Pe... |
ORPHA:217085 |
Chondrodysplasia, Blomstrand Type |
|
Preductal coarctation of the aorta |
OMIM:215045 |
X Small Rings |
|
Epicanthus, Congenital stationary night blindness, Aortic root aneurysm, Long palpebral fissure, ... |
ORPHA:96201 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Aortic regurgitation, Cataract, Tricuspid regurgitation, Brushfield spots, Heart murmur, Athetosi... |
OMIM:614866 |
Kallmann Syndrome With Spastic Paraplegia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Cryptorchi... |
OMIM:308750 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Microphthalmia, Compulsive behaviors, Attention deficit hyperactivity disorder, Cryptorchidism |
ORPHA:404440 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Microphthalmia, Cataract, Pulmonary arterial hypertension, Portal hypertension |
OMIM:620005 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 |
|
Epicanthus, Tricuspid regurgitation, Patent ductus arteriosus, Aortic rupture, Microcornea, Mitra... |
OMIM:614557 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Partial anomalous pulmonary venous return, Right aortic arch, Interrupted aortic arch, Truncus ar... |
OMIM:617478 |
Holoprosencephaly 9 |
|
Anophthalmia, Anterior pituitary hypoplasia, Optic nerve hypoplasia, Decreased response to growth... |
OMIM:610829 |
Microphthalmia-Brain Atrophy Syndrome |
|
Bilateral microphthalmos, Tongue thrusting |
ORPHA:77299 |
Scalp-Ear-Nipple Syndrome |
|
Hypertension, Cataract |
ORPHA:2036 |
Mucopolysaccharidosis Type 2, Attenuated Form |
|
Papilledema, Abnormality of retinal pigmentation, Corneal opacity, Abnormal foveal morphology, Pe... |
ORPHA:217093 |
Seckel Syndrome 2 |
|
Microphthalmia, Hypospadias |
OMIM:606744 |
Cockayne Syndrome |
|
Abnormality of retinal pigmentation, Optic disc pallor, Cataract, Retinal atrophy, Retinal dystro... |
ORPHA:191 |
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Microphthalmia, Epicanthus, Persistent left superior vena cava, Coarctation of aorta |
OMIM:618494 |
Marshall Syndrome |
|
Cataract, Lens luxation |
OMIM:154780 |
Werner Syndrome |
|
Cataract, Telangiectasia of the skin, Myocardial infarction, Congestive heart failure, Hypertension |
ORPHA:902 |
Charge Syndrome |
|
Aortic arch aneurysm, Epicanthus, Anophthalmia, Highly arched eyebrow, Patent ductus arteriosus, ... |
ORPHA:138 |
Roberts Syndrome |
|
Microphthalmia, Cataract |
ORPHA:3103 |
Monosomy 18Q |
|
Epicanthus, Left-to-right shunt, Abnormal retinal morphology, Congestive heart failure, Patent du... |
ORPHA:1600 |
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Astigmatism, Cataract |
OMIM:300968 |
Aortic Valve Disease 2 |
|
Aortic regurgitation, Calcification of the aorta, Coarctation of aorta, Mitral regurgitation, Asc... |
OMIM:614823 |
Heart And Brain Malformation Syndrome |
|
Microphthalmia, Interrupted aortic arch |
OMIM:616920 |
X-Linked Adrenoleukodystrophy |
|
Hyperactivity, Aggressive behavior, Increased circulating ACTH level, Impotence, Dementia, Adrena... |
ORPHA:43 |
8P23.1 Microdeletion Syndrome |
|
Epicanthus, Patent ductus arteriosus, Pulmonary artery stenosis, Upslanted palpebral fissure, Abn... |
ORPHA:251071 |
Mucopolysaccharidosis Type 2 |
|
Papilledema, Abnormality of retinal pigmentation, Corneal opacity, Abnormal foveal morphology, Pe... |
ORPHA:580 |
Boudin-Mortier Syndrome |
|
Aortic root aneurysm |
OMIM:619543 |
3P25.3 Microdeletion Syndrome |
|
Epicanthus, Patent ductus arteriosus, Pulmonic stenosis, Blepharophimosis, Microphthalmia, Downsl... |
ORPHA:435638 |
16P13.11 Microduplication Syndrome |
|
Tetralogy of Fallot, Transposition of the great arteries, Coarctation of aorta |
ORPHA:261243 |
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Hypertension, Cataract |
OMIM:617913 |
Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Medial flaring of the eyebrow, Aortic root aneurysm, Upslanted palpebral fissure, Coarctation of ... |
OMIM:617602 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Cataract, Optic disc hypoplasia, Optic nerve hypoplasia |
ORPHA:79345 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Abnormal pupil morphology, Microcornea, Abnormality of the pulmonary artery, Iris coloboma, Iris ... |
ORPHA:261552 |
Skin Creases, Congenital Symmetric Circumferential, 2 |
|
Microcornea, Microphthalmia |
OMIM:616734 |
Lathosterolosis |
|
Cataract, Opacification of the corneal stroma |
OMIM:607330 |
Williams Syndrome |
|
Flat cornea, Corneal opacity, Cataract, Sudden cardiac death, Myocardial infarction, Congestive h... |
ORPHA:904 |
Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Dilated cardiomyopathy, Cataract |
OMIM:616541 |
Double Outlet Right Ventricle |
|
Tachycardia, Double outlet right ventricle, Heart murmur, Coarctation of aorta, Narrow palpebral ... |
ORPHA:3426 |
Myhre Syndrome |
|
Cataract, Patent ductus arteriosus, Coarctation of aorta, Hypertension, Narrow palpebral fissure,... |
OMIM:139210 |
Cutis Laxa, Autosomal Recessive, Type Ib |
|
Arterial tortuosity, Narrow palpebral fissure, Aortic root aneurysm, Generalized arterial tortuos... |
OMIM:614437 |
Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Short attention span, Hyperactivity, Diabetes mellitus, Hyperthyroidism, Aggressive behavior, Abn... |
ORPHA:449291 |
Alacrima, Congenital, Autosomal Dominant |
|
Lacrimal gland hypoplasia, Punctate corneal epithelial erosions |
OMIM:103420 |
Trichothiodystrophy |
|
Bilateral microphthalmos, Developmental cataract, Microcornea, Cardiomyopathy, Keratoconjunctivit... |
ORPHA:33364 |
Hartsfield Syndrome |
|
Microphthalmia, Telecanthus, Downslanted palpebral fissures, Ptosis |
ORPHA:2117 |
Craniofaciofrontodigital Syndrome |
|
Gastrointestinal hemorrhage, Persistent fetal circulation, Epicanthus, Prominent superficial vein... |
ORPHA:363705 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Microphthalmia, Epicanthus, Downslanted palpebral fissures |
OMIM:602501 |
Acute Zonal Occult Outer Retinopathy |
|
Marcus Gunn pupil, Abnormal choroid morphology |
ORPHA:284454 |
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe |
|
Right aortic arch, Coarctation of aorta |
OMIM:140850 |
Gaucher Disease |
|
Tremor, Pulmonary arterial hypertension, Corneal opacity |
ORPHA:355 |
Spondyloocular Syndrome |
|
Posterior subcapsular cataract, Cataract |
OMIM:605822 |
Diaphragmatic Hernia 4, With Cardiovascular Defects |
|
Optic nerve hypoplasia, Aortopulmonary collateral arteries, Aortopulmonary window, Pulmonary arte... |
OMIM:620025 |
Thrombocytopenia-Absent Radius Syndrome |
|
Cataract, Corneal opacity |
OMIM:274000 |
Legius Syndrome |
|
Cataract, Paroxysmal atrial tachycardia, Lisch nodules, Pulmonic stenosis, Dystonia |
ORPHA:137605 |
Wilson Disease |
|
Limb dystonia, Tremor, Hand tremor, Kayser-Fleischer ring, Dystonia |
OMIM:277900 |
Cerebrooculonasal Syndrome |
|
Iris coloboma, Anophthalmia, Optic nerve hypoplasia, Hypoplastic male external genitalia |
OMIM:605627 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Noncompaction cardiomyopathy, Epicanthus, Cataract, Optic disc pallor, Synophrys, Dilated cardiom... |
OMIM:607872 |
Loeys-Dietz Syndrome 5 |
|
Mitral regurgitation, Aortic root aneurysm, Ascending aortic dissection, Long palpebral fissure, ... |
OMIM:615582 |
Diabetic Embryopathy |
|
Tetralogy of Fallot, Abnormal aortic morphology, Transposition of the great arteries, Aplasia/Hyp... |
ORPHA:1926 |
Chops Syndrome |
|
Cataract |
OMIM:616368 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Epicanthus, Patent ductus arteriosus, Optic atrophy, Upslanted palpebral fissure, Coloboma, Peter... |
OMIM:616975 |
Jacobsen Syndrome |
|
Epicanthus, Ectropion, Cataract, Coarctation of aorta, Microcornea, Eyelid coloboma, Aortic valve... |
ORPHA:2308 |
Peters Plus Syndrome |
|
Cataract, Corneal opacity, Microcornea, Pulmonic stenosis, Peters anomaly, Iris coloboma, Anterio... |
ORPHA:709 |
Fraser Syndrome 1 |
|
Anophthalmia, Corneal opacity, Bilateral microphthalmos |
OMIM:219000 |
Charge Syndrome |
|
Cataract, Anophthalmia, Overriding aorta, Patent ductus arteriosus, Unilateral microphthalmos, Ri... |
OMIM:214800 |
Bartsocas-Papas Syndrome 1 |
|
Absent eyebrow, Ablepharon, Cicatricial lagophthalmos, Absent eyelashes, Lower eyelid coloboma, A... |
OMIM:263650 |
Holt-Oram Syndrome |
|
Paroxysmal atrial fibrillation, First degree atrioventricular block, Patent ductus arteriosus, At... |
ORPHA:392 |
Relapsing Polychondritis |
|
Pericarditis, Cataract, Keratitis, Myocarditis, Uveitis, Large vessel vasculitis, Conjunctivitis |
ORPHA:728 |
Cardiac Diverticulum |
|
Ventricular tachycardia, Pulmonary artery hypoplasia, Abnormal EKG, Patent ductus arteriosus, Pul... |
ORPHA:1686 |
Hereditary Acrokeratotic Poikiloderma |
|
Telangiectasia of the skin, Opacification of the corneal stroma, Keratoconjunctivitis |
ORPHA:2907 |
Scimitar Syndrome |
|
Left-to-right shunt, Anomalous origin of left coronary artery from the pulmonary artery, Heart bl... |
ORPHA:185 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Spontaneous, recurrent epistaxis, Corneal opacity, Pulmonary arterial hypertension |
ORPHA:2072 |
Codas Syndrome |
|
Cataract, Developmental cataract |
OMIM:600373 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Cataract, Cardiac conduction abnormality, Patent ductus arteriosus, Coarctation of aorta, Vascula... |
ORPHA:353281 |
Miller-Dieker Lissencephaly Syndrome |
|
Cataract |
OMIM:247200 |
Van Den Ende-Gupta Syndrome |
|
Sclerocornea |
OMIM:600920 |
Aarskog-Scott Syndrome |
|
Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Cryptorchidism, Elevate... |
OMIM:305400 |
Focal Dermal Hypoplasia |
|
Anophthalmia, Ectopia lentis, Telangiectasia, Chorioretinal coloboma, Aniridia, Microphthalmia, I... |
OMIM:305600 |
Fibular Hemimelia |
|
Anophthalmia, Abnormal anterior chamber morphology |
ORPHA:93323 |
Holoprosencephaly 2 |
|
Remnants of the hyaloid vascular system, Chorioretinal coloboma, Microphthalmia, Cyclopia, Iris c... |
OMIM:157170 |
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
|
Patent ductus arteriosus, Coarctation of aorta |
OMIM:601612 |
Blomstrand Lethal Chondrodysplasia |
|
Telecanthus, Cataract, Coarctation of aorta |
ORPHA:50945 |
Autosomal Recessive Cutis Laxa Type 1 |
|
Abnormal cardiac ventricular function, Cataract, Congestive heart failure, Dystonia, Supravalvula... |
ORPHA:90349 |
Witteveen-Kolk Syndrome |
|
Cataract, Anisocoria, Intracranial hemorrhage, Microphthalmia, Iris coloboma |
OMIM:613406 |
Au-Kline Syndrome |
|
Lagophthalmos, Hypertension, Aortic root aneurysm, Shallow orbits, Long palpebral fissure, Downsl... |
OMIM:616580 |
Aortic Aneurysm, Familial Thoracic 11, Susceptibility To |
|
Descending aortic dissection, Ascending aortic dissection, Aortic aneurysm |
OMIM:617349 |
Renpenning Syndrome 1 |
|
Microphthalmia, Coloboma, Cataract |
OMIM:309500 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type |
|
Hyperactivity, Small scrotum, Cryptorchidism, Microphallus, Low frustration tolerance, Micropenis... |
OMIM:300486 |
Vici Syndrome |
|
Cataract, Congestive heart failure, Dilated cardiomyopathy, Ocular albinism, Developmental catara... |
OMIM:242840 |
Bardet-Biedl Syndrome 1 |
|
Hypertension, Astigmatism, Cataract |
OMIM:209900 |
Subaortic Stenosis-Short Stature Syndrome |
|
Microphthalmia, Epicanthus, Arrhythmia |
ORPHA:3191 |
Heterotaxy, Visceral, 12, Autosomal |
|
Patent ductus arteriosus, Partial anomalous pulmonary venous return, Hypoplastic aortic arch, Dex... |
OMIM:619702 |
Giant Cell Arteritis |
|
Pericarditis, Epistaxis, Sudden cardiac death, Vasculitis, Optic atrophy, Cerebral ischemia, Aort... |
ORPHA:397 |
Proximal Renal Tubular Acidosis |
|
Coloboma, Cataract, Hypovolemia, Band keratopathy |
ORPHA:47159 |
Cerebellar-Facial-Dental Syndrome |
|
Abnormal T-wave, Cataract |
ORPHA:444072 |
Pseudohypoparathyroidism Type 1C |
|
Laryngeal dystonia, Cataract, Conjunctivitis, Prolonged QT interval |
ORPHA:79444 |
Heterotaxy, Visceral, 6, Autosomal |
|
Right aortic arch, Double outlet right ventricle, Total anomalous pulmonary venous return, Transp... |
OMIM:614779 |
Wolf-Hirschhorn Syndrome |
|
Megalocornea, Iris coloboma, Sclerocornea |
ORPHA:280 |
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies |
|
Supernumerary nipple, Aggressive behavior, Attention deficit hyperactivity disorder, Compulsive b... |
OMIM:620098 |
Holoprosencephaly 7 |
|
Microphthalmia, Bilateral microphthalmos, Iris coloboma |
OMIM:610828 |
Juvenile Nephropathic Cystinosis |
|
Abnormal cornea morphology, Hypovolemia, Corneal crystals |
ORPHA:411634 |
Distal Deletion 15Q |
|
Double outlet right ventricle with doubly committed ventricular septal defect and pulmonary steno... |
ORPHA:1596 |
Hemochromatosis, Type 1 |
|
Diabetes mellitus, Hypogonadotropic hypogonadism, Azoospermia, Impotence, Testicular atrophy, Ame... |
OMIM:235200 |
Braddock-Carey Syndrome 2 |
|
Microphthalmia |
OMIM:619981 |
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome |
|
Upslanted palpebral fissure, Patent ductus arteriosus, Abnormal aortic morphology |
ORPHA:2001 |
Immunodeficiency 23 |
|
Aortic root aneurysm, Vasculitis in the skin |
OMIM:615816 |
Monosomy 18P |
|
Microphthalmia, Hypertension, Epicanthus, Ptosis |
ORPHA:1598 |
Microphthalmia, Syndromic 6 |
|
Anophthalmia, Small scrotum, Female hypogonadism, Sclerocornea, Adrenal hypoplasia, Cryptorchidis... |
OMIM:607932 |
8Q24.3 Microdeletion Syndrome |
|
Gastrointestinal hemorrhage, Epicanthus, Optic nerve hypoplasia, Highly arched eyebrow, Patent du... |
ORPHA:508488 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Corneal opacity, Keratitis, Corneal erosion, Uveitis, Astigmatism, Conjunctivitis |
ORPHA:2273 |
You-Hoover-Fong Syndrome |
|
Coarctation of aorta, Double aortic arch, Vascular ring |
OMIM:616954 |
Autosomal Dominant Polycystic Kidney Disease |
|
Hypertension, Aortic root aneurysm, Abnormal systemic arterial morphology, Dilatation of the cere... |
ORPHA:730 |
Rubinstein-Taybi Syndrome 1 |
|
Broad eyebrow, Epicanthus, Cataract, Highly arched eyebrow, Patent ductus arteriosus, Nasolacrima... |
OMIM:180849 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Decreased response to growth hormone stimulation test, Decreased circulating parathyroid hormone ... |
OMIM:241410 |
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Microphthalmia, Small scrotum, Cryptorchidism |
ORPHA:2728 |
Kabuki Syndrome |
|
Ptosis, Highly arched eyebrow, Coarctation of aorta, Microcornea, Coloboma, Long eyelashes, Evers... |
ORPHA:2322 |
Pseudotrisomy 13 Syndrome |
|
Upslanted palpebral fissure, Microphthalmia, Cyclopia, Coarctation of aorta |
OMIM:264480 |
Congenital Heart Defects, Multiple Types, 9 |
|
Aortopulmonary collateral arteries, Arteria lusoria, Double outlet right ventricle, Transposition... |
OMIM:620294 |
Cardiomyopathy, Dilated, 1S |
|
Tricuspid regurgitation, Sudden cardiac death, Congestive heart failure, Dilated cardiomyopathy, ... |
OMIM:613426 |
Alzahrani-Kuwahara Syndrome |
|
Astigmatism, Cataract |
OMIM:619268 |
Myhre Syndrome |
|
Hypertension, Cataract |
ORPHA:2588 |
Blau Syndrome |
|
Pericarditis, Cataract, Keratitis, Iridocyclitis, Large vessel vasculitis, Hypertension, Posterio... |
ORPHA:90340 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Cataract, Cardiac conduction abnormality, Highly arched eyebrow, Trichiasis, Patent ductus arteri... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Cataract, Cardiac conduction abnormality, Highly arched eyebrow, Trichiasis, Patent ductus arteri... |
ORPHA:353277 |
X-Linked Intellectual Disability, Armfield Type |
|
Cataract |
ORPHA:85276 |
Ritscher-Schinzel Syndrome 3 |
|
Microphthalmia, Downslanted palpebral fissures, Highly arched eyebrow, Chorioretinal coloboma |
OMIM:619135 |
Conotruncal Heart Malformations |
|
Truncus arteriosus, Transposition of the great arteries, Double outlet right ventricle, Coarctati... |
OMIM:217095 |
Fanconi Anemia, Complementation Group S |
|
Microphthalmia, Ovarian carcinoma, Ovarian neoplasm |
OMIM:617883 |
Aymé-Gripp Syndrome |
|
Megalocornea, Cataract, Pericarditis, Developmental cataract |
ORPHA:1272 |
Otopalatodigital Syndrome Type 2 |
|
Developmental glaucoma, Cataract |
ORPHA:90652 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Epicanthus, Synophrys, Patent ductus arteriosus, Upslanted palpebral fissure, Aortic root aneurys... |
ORPHA:280633 |
Hutchinson-Gilford Progeria Syndrome |
|
Aortic regurgitation, Corneal opacity, Mitral stenosis, Angina pectoris, Myocardial infarction, L... |
ORPHA:740 |
Cutis Laxa, Autosomal Recessive, Type Iid |
|
Right bundle branch block, Congestive heart failure, Hypertrophic cardiomyopathy, Cataract |
OMIM:617403 |
Heterotaxy, Visceral, 7, Autosomal |
|
Right aortic arch, Pulmonary artery hypoplasia, Interrupted inferior vena cava with azygous conti... |
OMIM:616749 |
Myofibrillar Myopathy 11 |
|
Coarctation of aorta |
OMIM:619178 |
Pseudohypoparathyroidism Type 1A |
|
Prolonged QT interval, Cataract, Band keratopathy, Choreoathetosis, Hypertension, Conjunctivitis,... |
ORPHA:79443 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Pulmonary artery stenosis, Patent ductus arteriosus, Pulmonary lymphangiectasia, Right-to-left sh... |
OMIM:265380 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Bilateral ptosis, Patent ductus arteriosus, Heart murmur, Intracranial hemorrhage, Upslanted palp... |
ORPHA:163979 |
Smith-Lemli-Opitz Syndrome |
|
Aplasia/Hypoplasia affecting the eye, Cataract, Iris coloboma, Sclerocornea |
ORPHA:818 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Wolff-Parkinson-White syndrome, First degree atrioventricular block, Heart block, Ventricular tac... |
ORPHA:216694 |
Aortic Arch Interruption |
|
Aortic regurgitation, Shock, Tricuspid regurgitation, Blood pressure substantially higher in arms... |
ORPHA:2299 |
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Coarctation of aorta |
OMIM:620210 |
Dent Disease |
|
Cataract |
ORPHA:1652 |
Yunis-Varon Syndrome |
|
Cataract, Sclerocornea, Bilateral microphthalmos, Renovascular hypertension, Pulmonary arterial h... |
ORPHA:3472 |
Galloway-Mowat Syndrome 3 |
|
Epicanthus, Coarctation of aorta, Hypertension, Microphthalmia, Downslanted palpebral fissures |
OMIM:617729 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Bifid scrotum, Hyperactivity, Hypospadias, Aggressive behavior, Cryptorchidism, Penoscrotal trans... |
OMIM:619148 |
Osteogenesis Imperfecta |
|
Aortic regurgitation, Corneal opacity, Cerebral hemorrhage, Aortic root aneurysm, Aortic dissecti... |
ORPHA:666 |
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome |
|
Cataract |
ORPHA:3042 |
Deafness, X-Linked 7 |
|
Telecanthus, Unilateral microphthalmos, Thick eyebrow, Ptosis |
OMIM:301018 |
Malignant Migrating Focal Seizures Of Infancy |
|
Aortopulmonary collateral arteries |
ORPHA:293181 |
Frontonasal Dysplasia 3 |
|
Microphthalmia, Absent eyebrow, Sparse eyelashes, Upper eyelid coloboma |
OMIM:613456 |
Septopreoptic Holoprosencephaly |
|
Coarctation of aorta |
ORPHA:280195 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Pulmonary arterial hypertension, Patent ductus arteriosus, Coarctation of aorta |
OMIM:614857 |
Fraser Syndrome |
|
Hypoplasia of penis, Anophthalmia, Small scrotum, Hypospadias, Cryptorchidism, Bicornuate uterus,... |
ORPHA:2052 |
Cockayne Syndrome A |
|
Cataract, Tremor, Hypertension, Opacification of the corneal stroma, Arrhythmia |
OMIM:216400 |
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Testicular atrophy |
OMIM:601163 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Opacification of the corneal stroma |
OMIM:615287 |
Ctcf-Related Neurodevelopmental Disorder |
|
Epicanthus, Highly arched eyebrow, Synophrys, Patent ductus arteriosus, Coarctation of aorta, Mic... |
ORPHA:363611 |
Meckel Syndrome, Type 5 |
|
Microphthalmia, Bile duct proliferation |
OMIM:611561 |
Plague |
|
Tachycardia, Hematemesis, Hypotension, Arrhythmia, Conjunctival hyperemia, Mydriasis |
ORPHA:707 |
Loeys-Dietz Syndrome 2 |
|
Aortic arch aneurysm, Arterial tortuosity, Descending thoracic aorta aneurysm, Patent ductus arte... |
OMIM:610168 |
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies |
|
Epicanthus, Telecanthus, Patent ductus arteriosus, Coarctation of aorta, Upslanted palpebral fiss... |
OMIM:617260 |
Microgastria-Limb Reduction Defect Syndrome |
|
Microphthalmia, Anophthalmia, Rectovaginal fistula, Perineal fistula |
ORPHA:2538 |
Loeys-Dietz Syndrome 3 |
|
Tortuous cerebral arteries, Cataract, Atrial fibrillation, Thoracic aortic aneurysm, Subarachnoid... |
OMIM:613795 |
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
|
Cataract |
OMIM:300990 |
Opitz Gbbb Syndrome |
|
Telecanthus, Patent ductus arteriosus, Coarctation of aorta, Aortic root aneurysm, Downslanted pa... |
ORPHA:2745 |
Marden-Walker Syndrome |
|
Microphthalmia, Micropenis, Hypospadias, Cryptorchidism |
OMIM:248700 |
Digeorge Syndrome |
|
Sclerocornea, Patent ductus arteriosus, Tetralogy of Fallot, Interrupted aortic arch, Blepharophi... |
OMIM:188400 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Astigmatism, Retinal coloboma, Cataract |
ORPHA:500095 |
Roberts-Sc Phocomelia Syndrome |
|
Cataract, Corneal opacity, Coloboma, Opacification of the corneal stroma, Microphthalmia |
OMIM:268300 |
Fryns Syndrome |
|
Microphthalmia, Opacification of the corneal stroma |
OMIM:229850 |
Transaldolase Deficiency |
|
Patent ductus arteriosus, Synophrys, Coarctation of aorta, Telangiectasia |
OMIM:606003 |
Cardiac, Facial, And Digital Anomalies With Developmental Delay |
|
Epicanthus, Patent ductus arteriosus, Optic atrophy, Double outlet right ventricle, Supravalvar p... |
OMIM:618164 |
Behçet Disease |
|
Aortic regurgitation, Gastrointestinal hemorrhage, Pericarditis, Cataract, Myocardial infarction,... |
ORPHA:117 |
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Microphthalmia, Optic nerve hypoplasia |
OMIM:614833 |
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development |
|
Laterally extended eyebrow, Highly arched eyebrow, Sparse eyebrow, Coarctation of aorta, Upslante... |
OMIM:600987 |
Noonan Syndrome 2 |
|
Epicanthus, Abnormal coronary artery origin, Mitral stenosis, Sparse eyebrow, Patent ductus arter... |
OMIM:605275 |
Mucolipidosis Ii Alpha/Beta |
|
Aortic regurgitation, Congestive heart failure, Heart murmur, Hypertrophic cardiomyopathy, Mitral... |
OMIM:252500 |
Cohen-Gibson Syndrome |
|
Cataract |
OMIM:617561 |
Spondylocarpotarsal Synostosis Syndrome |
|
Cataract |
OMIM:272460 |
Cryptophthalmos, Unilateral Or Bilateral, Isolated |
|
Microphthalmia |
OMIM:123570 |
Methimazole Embryofetopathy |
|
Abnormal aortic morphology, Coarctation of aorta |
ORPHA:1923 |
Townes-Brocks Syndrome |
|
Cataract, Chorioretinal coloboma, Limbal dermoid, Microphthalmia, Iris coloboma |
ORPHA:857 |
Ring Chromosome 10 Syndrome |
|
Microphthalmia |
ORPHA:1438 |
Neu-Laxova Syndrome 1 |
|
Microphthalmia, Pterygium, Cataract |
OMIM:256520 |
Meester-Loeys Syndrome |
|
Ascending tubular aorta aneurysm, Aortic root aneurysm, Dilatation of the cerebral artery, Aortic... |
OMIM:300989 |
Meacham Syndrome |
|
Patent ductus arteriosus, Partial anomalous pulmonary venous return, Coarctation of aorta, Right ... |
OMIM:608978 |
Heterotaxy, Visceral, 1, X-Linked |
|
Patent ductus arteriosus, Hypoplastic aortic arch, Double outlet right ventricle, Dextrotransposi... |
OMIM:306955 |
Feingold Syndrome 1 |
|
Epicanthus, Tricuspid stenosis, Patent ductus arteriosus, Upslanted palpebral fissure, Narrow pal... |
OMIM:164280 |
Stuve-Wiedemann Syndrome 1 |
|
Pulmonary arterial hypertension, Opacification of the corneal stroma |
OMIM:601559 |
Neurooculorenal Syndrome |
|
Iris atrophy |
OMIM:620305 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Patent ductus arteriosus, Tricuspid regurgitation, Anomalous pulmonary venous return, Coarctation... |
ORPHA:1120 |
Kabuki Syndrome 2 |
|
Epicanthus, Highly arched eyebrow, Coarctation of aorta, Long eyelashes, Pulmonic stenosis, Long ... |
OMIM:300867 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Patent ductus arteriosus, Coarctation of aorta, Interrupted aortic arch, Hypertrophic cardiomyopa... |
ORPHA:17 |
Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Aortic regurgitation, Highly arched eyebrow, Synophrys, Conotruncal defect, Coarctation of aorta,... |
ORPHA:96147 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 |
|
Aortic root aneurysm |
OMIM:615349 |
Cherubism |
|
Marcus Gunn pupil |
OMIM:118400 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Microphthalmia, Optic disc coloboma, Iris coloboma, Pulmonary arterial hypertension |
OMIM:620186 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Gastrointestinal hemorrhage, Cataract |
ORPHA:247598 |
Heterotaxy, Visceral, 8, Autosomal |
|
Aortopulmonary collateral arteries, Right aortic arch, Pulmonary artery atresia, Double outlet ri... |
OMIM:617205 |
Frontometaphyseal Dysplasia |
|
Abnormal cornea morphology, Astigmatism |
ORPHA:1826 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Hypoplastic aortic arch, Optic nerve hypoplasia, Upper eyelid entropion |
ORPHA:457284 |
Joubert Syndrome 21 |
|
Anophthalmia, Dysphagia |
OMIM:615636 |
Chromosome 1Q41-Q42 Deletion Syndrome |
|
Microphthalmia, Supernumerary nipple, Cryptorchidism |
OMIM:612530 |
Branchiooculofacial Syndrome |
|
Anophthalmia, Cataract, Nasolacrimal duct obstruction, Retinal coloboma, Microphthalmia, Iris col... |
OMIM:113620 |
Cardiac Septal Defects With Coarctation Of The Aorta |
|
Coarctation of aorta |
OMIM:212090 |
Aneurysm Of Sinus Of Valsalva |
|
Aortic regurgitation, Congestive heart failure, Heart murmur, Stroke, Dilatation of the sinus of ... |
ORPHA:1054 |
Craniofacioskeletal Syndrome |
|
Patent ductus arteriosus, Interrupted aortic arch, Blepharophimosis, Downslanted palpebral fissur... |
OMIM:300712 |
Fetal Alcohol Syndrome |
|
Microphthalmia, Cognitive impairment |
ORPHA:1915 |
Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Abnormal aortic morphology |
ORPHA:3405 |
2Q37 Microdeletion Syndrome |
|
Sparse eyebrow, Upslanted palpebral fissure, Highly arched eyebrow, Abnormal aortic morphology |
ORPHA:1001 |
Meckel Syndrome, Type 1 |
|
Patent ductus arteriosus, Coarctation of aorta, Microphthalmia, Epicanthus inversus, Iris colobom... |
OMIM:249000 |
Cowden Syndrome |
|
Cataract, Conjunctival hamartoma, Mucosal telangiectasiae |
ORPHA:201 |
Mosaic Variegated Aneuploidy Syndrome 2 |
|
Aortic regurgitation, Epicanthus, Coarctation of aorta, Blepharophimosis, Downslanted palpebral f... |
OMIM:614114 |
Elsahy-Waters Syndrome |
|
Megalocornea, Cataract, Phthisis bulbi |
OMIM:211380 |
Primrose Syndrome |
|
Posterior polar cataract |
OMIM:259050 |
Viss Syndrome |
|
Ptosis, Epidural hemorrhage, Tortuous cerebral arteries, Retinal detachment, Abnormal branching p... |
OMIM:619472 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Epicanthus, Peripheral retinal avascularization, Pulmonary artery stenosis, Abnormal aortic arch ... |
ORPHA:96334 |
Meckel Syndrome, Type 2 |
|
Microphthalmia, Bile duct proliferation |
OMIM:603194 |
Congenital Tracheomalacia |
|
Patent ductus arteriosus, Partial anomalous pulmonary venous return, Right aortic arch, Abnormal ... |
ORPHA:95430 |
Homozygous Familial Hypercholesterolemia |
|
Angina pectoris, Sudden cardiac death, Myocardial infarction, Precocious atherosclerosis, Abnorma... |
ORPHA:391665 |
Loeys-Dietz Syndrome 1 |
|
Arterial tortuosity, Descending thoracic aorta aneurysm, Patent ductus arteriosus, Aortic root an... |
OMIM:609192 |
Feingold Syndrome Type 1 |
|
Patent ductus arteriosus, Interrupted aortic arch, Tricuspid stenosis, Short palpebral fissure |
ORPHA:391641 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Microphthalmia |
OMIM:300863 |
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome |
|
Epistaxis, Cerebral arteriovenous malformation, Pulmonary arteriovenous malformation, Telangiecta... |
OMIM:175050 |
Microphthalmia With Limb Anomalies |
|
Microphthalmia, True anophthalmia, Cryptorchidism |
ORPHA:1106 |
Diamond-Blackfan Anemia |
|
Radial artery aplasia, Epicanthus, Developmental glaucoma, Developmental cataract, Coarctation of... |
ORPHA:124 |
Wiedemann-Rautenstrauch Syndrome |
|
Cataract, Optic disc hypoplasia, Corneal opacity, Tremor, Pulmonic stenosis, Action tremor |
ORPHA:3455 |
Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Pulmonic stenosis, Coarctation of aorta |
OMIM:614300 |
1P36 Deletion Syndrome |
|
Aortic arch aneurysm, Abnormal eyebrow morphology, Epicanthus, Cataract, Patent ductus arteriosus... |
ORPHA:1606 |
Momo Syndrome |
|
Epicanthus, Bilateral microphthalmos, Eyelid coloboma, Chorioretinal coloboma, Downslanted palpeb... |
ORPHA:2563 |
Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Epicanthus, Highly arched eyebrow, Patent ductus arteriosus, Optic disc coloboma, Coarctation of ... |
OMIM:618454 |
Familial Bicuspid Aortic Valve |
|
Aortic regurgitation, Aortic arch aneurysm, Heart murmur, Coarctation of aorta, Hypertension, Asc... |
ORPHA:402075 |
Bone Marrow Failure Syndrome 5 |
|
Hypogonadism, Testicular atrophy |
OMIM:618165 |
Diamond-Blackfan Anemia 1 |
|
Epicanthus, Tricuspid stenosis, Congestive heart failure, Primary congenital glaucoma, Coarctatio... |
OMIM:105650 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 10 |
|
Microphthalmia |
OMIM:619053 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Hypertrophic cardiomyopathy, Cataract |
OMIM:124000 |
Kleefstra Syndrome |
|
Highly arched eyebrow, Pulmonary artery stenosis, Synophrys, Coarctation of aorta, Upslanted palp... |
ORPHA:261494 |
Osteopetrosis, Autosomal Recessive 8 |
|
Unilateral microphthalmos |
OMIM:615085 |
Aspartylglucosaminuria |
|
Mitral regurgitation, Cataract |
OMIM:208400 |
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
Eyelid coloboma, Bilateral microphthalmos, Optic nerve hypoplasia, Telecanthus |
OMIM:607597 |
Fanconi Anemia, Complementation Group F |
|
Microphthalmia, Microphallus, Decreased response to growth hormone stimulation test, Cryptorchidism |
OMIM:603467 |
Cardiospondylocarpofacial Syndrome |
|
Epicanthus, Telecanthus, Hypoplastic aortic arch, Upslanted palpebral fissure, Mitral regurgitati... |
OMIM:157800 |
Fg Syndrome Type 1 |
|
Pulmonary arterial hypertension, Downslanted palpebral fissures, Optic nerve hypoplasia, Coarctat... |
ORPHA:93932 |
Meckel Syndrome, Type 4 |
|
Microphthalmia, Bile duct proliferation |
OMIM:611134 |
Laubry-Pezzi Syndrome |
|
Aortic regurgitation, Mildly reduced left ventricular ejection fraction, Abnormal coronary artery... |
ORPHA:99094 |
Craniofacial Microsomia 1 |
|
Anophthalmia, Blepharophimosis, Patent ductus arteriosus, Upper eyelid coloboma, Coarctation of a... |
OMIM:164210 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Tachycardia, Tricuspid regurgitation, Right ventricular failure, Patent ductus arteriosus, Pulmon... |
ORPHA:99125 |
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome |
|
Upslanted palpebral fissure, Varicose veins, Pulmonic stenosis, Aortic dissection, Vascular dilat... |
OMIM:618343 |
Fanconi Anemia, Complementation Group A |
|
Male infertility, Microphthalmia, Hypergonadotropic hypogonadism, Cryptorchidism |
OMIM:227650 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Diabetes mellitus, Hypogonadotropic hypogonadism, Hypothyroidism, Infertility, Erectile dysfuncti... |
ORPHA:465508 |
Fanconi Anemia, Complementation Group E |
|
Microphthalmia, Hypergonadotropic hypogonadism, Cryptorchidism |
OMIM:600901 |
Lipodystrophy, Familial Partial, Type 7 |
|
Orthostatic hypotension, Cataract, Developmental cataract, Hypertension, Pulmonary arterial hyper... |
OMIM:606721 |
Frontonasal Dysplasia 2 |
|
Telecanthus, Sparse eyelashes, Sparse eyebrow, Upslanted palpebral fissure, Blepharophimosis, Mic... |
OMIM:613451 |
Fanconi Anemia, Complementation Group D2 |
|
Hypergonadotropic hypogonadism, Cryptorchidism, Annular pancreas, Attention deficit hyperactivity... |
OMIM:227646 |
Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Testicular atrophy |
OMIM:613987 |
Ohdo Syndrome, X-Linked |
|
Small scrotum, Cryptorchidism, Shawl scrotum, Microphthalmia, Micropenis |
OMIM:300895 |
Joubert Syndrome 2 |
|
Microphthalmia, Optic disc coloboma, Chorioretinal coloboma |
OMIM:608091 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Microphthalmia |
ORPHA:163966 |
Microcephaly, Developmental Delay, And Brittle Hair Syndrome |
|
Aortic root aneurysm |
OMIM:618891 |
Dyskeratosis Congenita, X-Linked |
|
Pterygium, Cataract, Conjunctivitis |
OMIM:305000 |
Steinert Myotonic Dystrophy |
|
Decreased response to growth hormone stimulation test, Oral-pharyngeal dysphagia, Non-medullary t... |
ORPHA:273 |
Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Hypoplasia of penis, Hypospadias, Adrenal hypoplasia, Cryptorchidism, Ambiguous genitalia, Microp... |
ORPHA:2166 |
Right Atrial Isomerism |
|
Aortopulmonary collateral arteries, Total anomalous pulmonary venous return, Transposition of the... |
OMIM:208530 |
Congenital Disorder Of Glycosylation, Type It |
|
Tachycardia, Sudden cardiac death, Dilated cardiomyopathy, Coarctation of aorta, Aborted sudden c... |
OMIM:614921 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Epicanthus, Antecubital pterygium, Popliteal pterygium, Total anomalous pulmonary venous return, ... |
OMIM:609945 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Medial flaring of the eyebrow, Congenital Horner syndrome, Telecanthus, Portal hypertension, Asce... |
OMIM:619503 |
Lesch-Nyhan Syndrome |
|
Self-injurious behavior, Testicular atrophy, Dysphagia |
OMIM:300322 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Prolonged QT interval, Epicanthus, Tachycardia, Developmental glaucoma, Coarctation of aorta |
ORPHA:1772 |
Acrocardiofacial Syndrome |
|
Truncus arteriosus, Coarctation of aorta, Long eyelashes, Mitral stenosis, Tetralogy of Fallot |
ORPHA:2008 |
Toriello-Carey Syndrome |
|
Telecanthus, Sparse eyebrow, Patent ductus arteriosus, Coarctation of aorta, Cardiomyopathy, Pulm... |
ORPHA:3338 |
Pallister-Hall Syndrome |
|
Thyroid dysgenesis, Decreased circulating cortisol level, Decreased response to growth hormone st... |
OMIM:146510 |
Fanconi Anemia, Complementation Group B |
|
Patent ductus arteriosus, Optic disc hypoplasia, Coarctation of aorta |
OMIM:300514 |
Gabriele-De Vries Syndrome |
|
Telecanthus, Aortopulmonary collateral arteries, Sparse eyebrow, Epiblepharon, Downslanted palpeb... |
OMIM:617557 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Abnormal cornea morphology, Dilated cardiomyopathy, Bradycardia |
ORPHA:79404 |
Cerebrooculofacioskeletal Syndrome 4 |
|
Blepharophimosis, Bilateral microphthalmos, Abnormal retinal morphology |
OMIM:610758 |
17Q11 Microdeletion Syndrome |
|
Telangiectasia of the skin, Cerebral artery stenosis, Abnormal internal carotid artery morphology... |
ORPHA:97685 |
Aicardi Syndrome |
|
Retinal detachment, Abnormality of retinal pigmentation, Optic disc coloboma, Optic atrophy, Chor... |
ORPHA:50 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Aortic regurgitation, Tricuspid regurgitation, First degree atrioventricular block, Congestive he... |
OMIM:620066 |
Cardiac Valvular Dysplasia 1 |
|
Tricuspid regurgitation, Tricuspid stenosis, Valvular pulmonary stenosis, Arteria lusoria, Left a... |
OMIM:212093 |
Fanconi Anemia, Complementation Group L |
|
Microphthalmia, Micropenis, Aplasia of the uterus, Attention deficit hyperactivity disorder |
OMIM:614083 |
15Q11.2 Microdeletion Syndrome |
|
Tetralogy of Fallot, Total anomalous pulmonary venous return, Coarctation of aorta |
ORPHA:261183 |
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly |
|
Coarctation of aorta |
OMIM:217085 |
Pagod Syndrome |
|
Sudden cardiac death, Optic atrophy, Pulmonary artery hypoplasia, Abnormal aortic morphology, Arr... |
ORPHA:991 |
Fanconi Anemia, Complementation Group R |
|
Microphthalmia |
OMIM:617244 |
Ehlers-Danlos Syndrome, Vascular Type |
|
Keratoconus, Recurrent intrapulmonary hemorrhage, Diffuse alveolar hemorrhage, Descending aortic ... |
OMIM:130050 |
Fanconi Anemia, Complementation Group C |
|
Microphthalmia, Hypergonadotropic hypogonadism, Cryptorchidism |
OMIM:227645 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Pulmonary artery stenosis, Patent ductus arteriosus, Transposition of the great arteries, Pulmoni... |
OMIM:600001 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Telecanthus, Cataract, Pulmonary artery sling, Tetralogy of Fallot, Coarctation of aorta, Astigma... |
ORPHA:261537 |
Smith-Lemli-Opitz Syndrome |
|
Epicanthus, Cataract, Patent ductus arteriosus, Coarctation of aorta, Hypertension, Hypertrophic ... |
OMIM:270400 |
Autosomal Recessive Robinow Syndrome |
|
Epicanthus, Upslanted palpebral fissure, Abnormal aortic morphology, Long eyelashes, Long palpebr... |
ORPHA:1507 |
Maternal Phenylketonuria |
|
Epicanthus, Bilateral ptosis, Coarctation of aorta, Double outlet right ventricle, Tetralogy of F... |
ORPHA:2209 |
Cystinosis, Nephropathic |
|
Recurrent corneal erosions, Corneal crystals |
OMIM:219800 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Ambiguous genitalia, Microphthalmia, Cryptorchidism |
OMIM:616300 |
Meckel Syndrome 14 |
|
Ambiguous genitalia, Microphthalmia, Aplasia of the uterus |
OMIM:619879 |
Teebi-Shaltout Syndrome |
|
Telecanthus, Highly arched eyebrow, Microphthalmia, Aortic valve stenosis, Ptosis |
OMIM:272950 |
Meacham Syndrome |
|
Patent ductus arteriosus, Anomalous pulmonary venous return, Conotruncal defect, Coarctation of a... |
ORPHA:3097 |
Gaucher Disease, Type Ii |
|
Double aortic arch |
OMIM:230900 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Pulmonary artery stenosis, Patent ductus arteriosus, Transposition of the great arteries, Pulmoni... |
ORPHA:2255 |
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
|
Right aortic arch, Increased axial length of the globe, Sparse lateral eyebrow |
ORPHA:513456 |
Mowat-Wilson Syndrome |
|
Telecanthus, Cataract, Pulmonary artery sling, Patent ductus arteriosus, Coarctation of aorta, As... |
ORPHA:2152 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Aortic regurgitation, Tricuspid regurgitation, Left-to-right shunt, Cardiac arrest, Portal hypert... |
OMIM:619534 |
Tetrasomy 9P |
|
Pericarditis, Epicanthus, Juxtaductal coarctation of the aorta, Abnormal chorioretinal morphology... |
ORPHA:3310 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Cataract |
ORPHA:93271 |
Fontaine Progeroid Syndrome |
|
Prominent superficial veins, Tricuspid regurgitation, Aplastic/hypoplastic lacrimal glands, Synop... |
OMIM:612289 |
Perlman Syndrome |
|
Interrupted aortic arch |
OMIM:267000 |
Adams-Oliver Syndrome 1 |
|
Pulmonary artery stenosis, Hypertension, Pulmonary arterial hypertension, Pulmonic stenosis, Micr... |
OMIM:100300 |
Cardiac-Urogenital Syndrome |
|
Tachycardia, Patent ductus arteriosus, Partial anomalous pulmonary venous return, Interrupted aor... |
OMIM:618280 |
Aneurysm-Osteoarthritis Syndrome |
|
Aortic regurgitation, Atrial fibrillation, Arterial tortuosity, Patent ductus arteriosus, Mitral ... |
ORPHA:284984 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Hypospadias, Optic nerve hypoplasia, Cryptorchidism, Bilateral microphthalmos, Self-injurious beh... |
ORPHA:468631 |
Loeys-Dietz Syndrome |
|
Cardiac arrest, Arterial tortuosity, Patent ductus arteriosus, Aortic dissection, Arterial dissec... |
ORPHA:60030 |
Congenital Tracheal Stenosis |
|
Ascending aorta hypoplasia, Patent ductus arteriosus, Preductal coarctation of the aorta, Pulmona... |
ORPHA:141127 |
Generalized Arterial Calcification Of Infancy |
|
Medial calcification of large arteries, Transient ischemic attack, Choroidal neovascularization, ... |
ORPHA:51608 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Prolonged QT interval, Aortic arch aneurysm, Epicanthus, Myocardial infarction, Neck pterygia, Ga... |
ORPHA:99413 |
Mosaic Monosomy X |
|
Prolonged QT interval, Aortic arch aneurysm, Epicanthus, Myocardial infarction, Neck pterygia, Ga... |
ORPHA:99228 |
Monosomy X |
|
Prolonged QT interval, Aortic arch aneurysm, Epicanthus, Myocardial infarction, Neck pterygia, Ga... |
ORPHA:99226 |
Turner Syndrome |
|
Prolonged QT interval, Aortic arch aneurysm, Epicanthus, Myocardial infarction, Neck pterygia, Ga... |
ORPHA:881 |
Microcephaly-Micromelia Syndrome |
|
Microphthalmia |
OMIM:251230 |
Right Pulmonary Artery, Anomalous Origin Of, Familial |
|
Patent ductus arteriosus, Anomalous origin of right pulmonary artery from ascending aorta, Coarct... |
OMIM:610338 |
Monosomy 9P |
|
Epicanthus, Highly arched eyebrow, Synophrys, Upslanted palpebral fissure, Blepharophimosis, Micr... |
ORPHA:261112 |
Yunis-Varon Syndrome |
|
Cataract, Sclerocornea, Heart murmur, Cardiomyopathy, Pulmonary arterial hypertension |
OMIM:216340 |
Degcags Syndrome |
|
Abnormal eyebrow morphology, Tachycardia, Abnormal eyelash morphology, Synophrys, Patent ductus a... |
OMIM:619488 |
Hardikar Syndrome |
|
Lacrimal duct stenosis, Portal hypertension, Hematemesis, Patent ductus arteriosus, Pulmonary art... |
OMIM:301068 |
Heterotaxy, Visceral, 5, Autosomal |
|
Atrial reentry tachycardia, Patent ductus arteriosus, Partial anomalous pulmonary venous return, ... |
OMIM:270100 |
Fraser Syndrome 2 |
|
Ambiguous genitalia, Microphthalmia, Hypoplasia of the thymus |
OMIM:617666 |
Otopalatodigital Syndrome, Type Ii |
|
Dilatation of the sinus of Valsalva, Cataract, Downslanted palpebral fissures |
OMIM:304120 |
Pallister-Hall Syndrome |
|
Small scrotum, Adrenal hypoplasia, Gonadotropin deficiency, Micropenis, Paroxysmal bursts of laug... |
ORPHA:672 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Absent gallbladder, Septate vagina, Uterus didelphys, Microphthalmia, Micropenis |
OMIM:617925 |
Nicolaides-Baraitser Syndrome |
|
Absent eyebrow, Coarctation of aorta, Narrow palpebral fissure, Long eyelashes, Unilateral narrow... |
OMIM:601358 |
Esophageal Atresia |
|
Coloboma, Tetralogy of Fallot, Coarctation of aorta |
ORPHA:1199 |
X-Linked Intellectual Disability, Snyder Type |
|
Cryptorchidism, Hypospadias, Abnormality of the Leydig cells, Testicular atrophy |
ORPHA:3063 |
Orofaciodigital Syndrome Vi |
|
Epicanthus, Coarctation of aorta |
OMIM:277170 |
Floating-Harbor Syndrome |
|
Abnormal anterior chamber morphology, Persistent left superior vena cava, Tetralogy of Fallot, Co... |
ORPHA:2044 |
Catel-Manzke Syndrome |
|
Overriding aorta, Nasolacrimal duct obstruction, Coarctation of aorta, Upslanted palpebral fissur... |
OMIM:616145 |
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly |
|
Absent pulmonary artery, Patent ductus arteriosus, Tetralogy of Fallot, Coarctation of aorta |
OMIM:600460 |
Isolated Arrhinia |
|
Microphthalmia |
ORPHA:1134 |
Noonan Syndrome 1 |
|
Epicanthus, Patent ductus arteriosus, Coarctation of aorta, Pulmonic stenosis, Hypertrophic cardi... |
OMIM:163950 |
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities |
|
Tetralogy of Fallot, Coarctation of aorta, Ptosis |
OMIM:618748 |
Treacher Collins Syndrome 1 |
|
Cryptorchidism, Bilateral microphthalmos, Abnormal parotid gland morphology |
OMIM:154500 |
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum |
|
Patent ductus arteriosus, Epicanthus, Downslanted palpebral fissures, Coarctation of aorta |
OMIM:619480 |
Igg4-Related Kidney Disease |
|
Dacryocystitis, Pericarditis, Abnormal aortic morphology, Arteritis |
ORPHA:449395 |
Mosaic Trisomy 16 |
|
Patent ductus arteriosus, Single coronary artery origin, Coarctation of aorta |
ORPHA:1708 |
Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Patent ductus arteriosus, Epicanthus, Downslanted palpebral fissures, Coarctation of aorta |
OMIM:617088 |
Kabuki Syndrome 1 |
|
Highly arched eyebrow, Sparse eyebrow, Bilateral ptosis, Prominent eyelashes, Coarctation of aort... |
OMIM:147920 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Highly arched eyebrow, Coarctation of aorta, Hypertension, Mitral regurgitation, Hypertrophic car... |
OMIM:220111 |
Pallister-Killian Syndrome |
|
Telecanthus, Epicanthus, Sparse eyelashes, Cataract, Sparse eyebrow, Patent ductus arteriosus, Co... |
OMIM:601803 |
Mullegama-Klein-Martinez Syndrome |
|
Curly eyelashes, Coarctation of aorta |
OMIM:301022 |
Holoprosencephaly 1 |
|
Microphthalmia, Micropenis, Diabetes insipidus, Adrenal hypoplasia |
OMIM:236100 |
Robinow Syndrome |
|
Pulmonic stenosis, Coarctation of aorta |
ORPHA:97360 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Sparse eyelashes, Sparse eyebrow, Coarctation of aorta, Hypertension, Tetralogy of Fallot |
OMIM:210710 |
Hydrolethalus Syndrome 1 |
|
Hypospadias, Bifid uterus, Adrenal gland dysgenesis, Microphthalmia, Abnormal vagina morphology |
OMIM:236680 |
Floating-Harbor Syndrome |
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Persistent left superior vena cava, Long eyelashes, Coarctation of aorta |
OMIM:136140 |