Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
Attention Deficit-Hyperactivity Disorder 8 |
|
Attention deficit hyperactivity disorder |
OMIM:619957 |
Nanophthalmos 1 |
|
Bilateral microphthalmos |
OMIM:600165 |
Microphthalmia, Isolated 7 |
|
Microphthalmia |
OMIM:613704 |
Nanophthalmos 2 |
|
Microphthalmia |
OMIM:609549 |
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 13 With Adult I Phenotype |
|
Developmental cataract |
OMIM:116700 |
Cataract 37 |
|
Developmental cataract |
OMIM:614422 |
Cataract 45 |
|
Developmental cataract |
OMIM:616851 |
Cataract 38 |
|
Developmental cataract |
OMIM:614691 |
Cataract 44 |
|
Developmental cataract |
OMIM:616509 |
Hypertrophic Neuropathy And Cataract |
|
Cataract |
OMIM:239900 |
Microphthalmia, Isolated, With Cataract 1 |
|
Microphthalmia, Cataract |
OMIM:156850 |
Anterior Segment Dysgenesis 8 |
|
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Hypoplasia of the iris, Iris transillumi... |
OMIM:617319 |
22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
Hereditary Hyperferritinemia-Cataract Syndrome |
|
Cataract |
ORPHA:163 |
Cataract 29 |
|
Cataract |
OMIM:115800 |
Cataract 35 |
|
Cataract |
OMIM:609376 |
Cataract 36 |
|
Cataract |
OMIM:613887 |
Microphthalmia, Isolated, With Coloboma 3 |
|
Microphthalmia, Cataract, Iris coloboma |
OMIM:610092 |
Glaucoma-Ectopia Lentis-Microspherophakia-Stiff Joints-Short Stature Syndrome |
|
Ectopia lentis |
ORPHA:2084 |
Autism, Susceptibility To, X-Linked 4 |
|
Motor tics, Attention deficit hyperactivity disorder, Impulsivity, Aggressive behavior |
OMIM:300830 |
Attention Deficit-Hyperactivity Disorder, Susceptibility To, 7 |
|
Attention deficit hyperactivity disorder |
OMIM:613003 |
Gilles De La Tourette Syndrome |
|
Aggressive behavior, Phonic tics, Attention deficit hyperactivity disorder, Compulsive behaviors,... |
OMIM:137580 |
Cataract And Congenital Ichthyosis |
|
Cataract |
OMIM:212400 |
Cochleosaccular Degeneration With Progressive Cataracts |
|
Progressive cataract |
OMIM:120040 |
Edict Syndrome |
|
Keratoconus, Hypoplasia of the iris, Microcornea, Astigmatism, Anterior polar cataract |
OMIM:614303 |
Cornea Guttata With Anterior Polar Cataracts |
|
Anterior polar cataract |
OMIM:121390 |
Cataract 7 |
|
Developmental cataract |
OMIM:115660 |
Cataract 24 |
|
Anterior polar cataract |
OMIM:601202 |
Microphthalmia, Isolated 2 |
|
Microphthalmia, Opacification of the corneal stroma |
OMIM:610093 |
Cataract 11, Multiple Types |
|
Microphthalmia, Cataract, Developmental cataract |
OMIM:610623 |
Congenital Primary Aphakia |
|
Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Sclerocornea, Conge... |
ORPHA:83461 |
Autism, Susceptibility To, 20 |
|
Attention deficit hyperactivity disorder, Compulsive behaviors |
OMIM:618830 |
Cataract 39, Multiple Types |
|
Lamellar cataract, Anterior polar cataract, Developmental cataract |
OMIM:615188 |
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:85275 |
Microphthalmia, Isolated, With Coloboma 4 |
|
Microcornea, Microphthalmia |
OMIM:251505 |
Hydrocephaly-Cerebellar Agenesis Syndrome |
|
Cataract |
ORPHA:1397 |
Cataract 32, Multiple Types |
|
Anterior polar cataract |
OMIM:115650 |
Foveal Hypoplasia 1 |
|
Hypoplasia of the fovea, Presenile cataracts |
OMIM:136520 |
Cataract 9, Multiple Types |
|
Progressive cataract, Cataract, Developmental cataract, Microcornea, Microphthalmia, Iris coloboma |
OMIM:604219 |
Microphthalmia, Isolated, With Coloboma 7 |
|
Microphthalmia, Iris coloboma, Inferior chorioretinal coloboma |
OMIM:614497 |
Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity |
DECIPHER:19 |
Cataract-Ataxia-Deafness-Retardation Syndrome |
|
Developmental cataract |
OMIM:212710 |
Cataract 12, Multiple Types |
|
Progressive cataract, Developmental cataract |
OMIM:611597 |
Microphthalmia, Isolated, With Coloboma 10 |
|
Anophthalmia, Chorioretinal coloboma, Microphthalmia, Microcoria, Iris coloboma |
OMIM:616428 |
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome |
|
Cataract |
ORPHA:73245 |
Aldh18A1-Related De Barsy Syndrome |
|
Cataract |
ORPHA:35664 |
Cataract 6, Multiple Types |
|
Posterior polar cataract, Choroideremia, Developmental cataract |
OMIM:116600 |
Cataract 5, Multiple Types |
|
Pulverulent cataract, Nuclear cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract |
OMIM:116800 |
Cataract 42 |
|
Cataract, Developmental cataract |
OMIM:115900 |
Blindness-Scoliosis-Arachnodactyly Syndrome |
|
Abnormality of retinal pigmentation, Cataract, Lens subluxation, Microphakia |
ORPHA:171844 |
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities |
|
Abnormality of skin pigmentation, Cataract |
OMIM:300719 |
Pupillary Membrane, Persistence Of |
|
Developmental cataract, Megalocornea, Persistent pupillary membrane |
OMIM:178900 |
Trichomegaly |
|
Cataract |
OMIM:190330 |
Anterior Segment Dysgenesis 2 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber... |
OMIM:610256 |
Anterior Segment Dysgenesis 1 |
|
Microcornea, Opacification of the corneal stroma, Peters anomaly, Posterior polar cataract, Ocula... |
OMIM:107250 |
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness |
|
Cataract, Chorioretinal coloboma |
OMIM:274205 |
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Microphthalmia, Cataract, Iris coloboma, Chorioretinal coloboma |
OMIM:120433 |
Corneal Dystrophy, Groenouw Type I |
|
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy |
OMIM:121900 |
Nathalie Syndrome |
|
Cataract |
ORPHA:2663 |
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome |
|
Aplasia/Hypoplasia of the lens, Cataract |
ORPHA:1381 |
Iris Pigment Epithelium Anomalies |
|
Iris cyst |
OMIM:601616 |
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy |
|
Juvenile cataract |
OMIM:212500 |
Intellectual Developmental Disorder, Autosomal Recessive 3 |
|
Hyperactivity |
OMIM:608443 |
Foveal Hypoplasia-Presenile Cataract Syndrome |
|
Generalized hyperpigmentation, Cataract |
ORPHA:2253 |
Premature Ovarian Failure 12 |
|
Microphthalmia |
OMIM:616947 |
Congenital Varicella Syndrome |
|
Microphthalmia, Cataract |
ORPHA:291 |
Galactosemia Iv |
|
Cataract |
OMIM:618881 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 3 |
|
Cataract |
ORPHA:79281 |
Uncombable Hair Syndrome 2 |
|
Juvenile cataract |
OMIM:617251 |
X-Linked Retinoschisis |
|
Cataract |
ORPHA:792 |
Microphthalmia, Isolated 1 |
|
Microphthalmia, Anophthalmia |
OMIM:251600 |
Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Microcornea, Microphthalmia, Corneal opacity |
ORPHA:2432 |
Intellectual Developmental Disorder, Autosomal Recessive 2 |
|
Self-injurious behavior, Attention deficit hyperactivity disorder |
OMIM:607417 |
Spinocerebellar Degeneration With Macular Corneal Dystrophy, Congenital Cataracts, And Myopia |
|
Corneal dystrophy, Developmental cataract |
OMIM:271320 |
Microphthalmia, Isolated, With Coloboma 5 |
|
Anophthalmia, Bilateral microphthalmos, Chorioretinal coloboma, Microphthalmia, Iris coloboma |
OMIM:611638 |
Cataract 30, Multiple Types |
|
Posterior polar cataract, Diffuse nuclear cataract, Pulverulent cataract |
OMIM:116300 |
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay |
|
Cataract, Developmental cataract |
OMIM:613076 |
Chorea, Remitting, With Nystagmus And Cataract |
|
Cataract |
OMIM:601372 |
Cataract 16, Multiple Types |
|
Posterior polar cataract, Lenticonus, Developmental cataract |
OMIM:613763 |
Foveal Hypoplasia 2 |
|
Hypoplasia of the fovea, Astigmatism, Axenfeld anomaly, Microphthalmia, Posterior embryotoxon |
OMIM:609218 |
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma |
|
Iridodonesis, Ectopia lentis, Deep anterior chamber, Microspherophakia, Buphthalmos, Megalocornea |
OMIM:251750 |
Galactosemia Ii |
|
Cataract |
OMIM:230200 |
Microphthalmia, Isolated, With Coloboma 6 |
|
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia |
OMIM:613703 |
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract |
|
Aniridia, Microcornea, Cataract |
OMIM:106230 |
Cataract-Microcornea Syndrome |
|
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma |
ORPHA:1377 |
Intellectual Developmental Disorder, Autosomal Recessive 37 |
|
Hyperactivity, Bruxism, Aggressive behavior |
OMIM:615493 |
Weill-Marchesani Syndrome 3 |
|
Shallow anterior chamber, Microspherophakia, Ectopia lentis |
OMIM:614819 |
Glaucoma 3, Primary Congenital, D |
|
Corneal opacity, Primary congenital glaucoma, Ectopia lentis |
OMIM:613086 |
Anterior Segment Dysgenesis 7 |
|
Cataract, Corneal opacity, Sclerocornea, Buphthalmos, Microcornea, Anterior synechiae of the ante... |
OMIM:269400 |
Neutropenia, Severe Congenital, 9, Autosomal Dominant |
|
Cataract |
OMIM:619813 |
Xeroderma Pigmentosum, Complementation Group G |
|
Microphthalmia, Cataract |
OMIM:278780 |
Smith-Magenis syndrome |
|
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation |
DECIPHER:8 |
Spinocerebellar Ataxia, Autosomal Recessive 24 |
|
Cataract |
OMIM:617133 |
Spastic Paraparesis And Deafness |
|
Cataract |
OMIM:312910 |
Anterior Segment Dysgenesis 5 |
|
Hypoplasia of the fovea, Rieger anomaly, Sclerocornea, Developmental cataract, Hypoplasia of the ... |
OMIM:604229 |
Microphthalmia, Syndromic 16 |
|
Microphthalmia, Anophthalmia, Sclerocornea |
OMIM:611038 |
Asperger Syndrome, Susceptibility To, 1 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:608638 |
Asperger Syndrome, Susceptibility To, 2 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:608631 |
Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Microcornea, Microphthalmia, Cataract |
ORPHA:2528 |
Iris Pigment Layer, Cleavage Of |
|
Cataract |
OMIM:147610 |
Hypoalphalipoproteinemia, Primary, 2 |
|
Corneal arcus, Cataract |
OMIM:618463 |
Intellectual Developmental Disorder, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Microphthalmia, Ocular anterior segment dysgenesis, Iris coloboma, Peters anomaly |
OMIM:610023 |
Microphthalmia, Isolated 6 |
|
Microcornea, Microphthalmia |
OMIM:613517 |
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism |
|
Cataract |
OMIM:254000 |
Aniridia-Intellectual Disability Syndrome |
|
Aniridia, Cataract, Optic nerve hypoplasia, Ectopia lentis |
ORPHA:1068 |
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Hyperactivity, Bruxism, Aggressive behavior |
ORPHA:356996 |
Blepharoptosis, Myopia, And Ectopia Lentis |
|
Increased axial length of the globe, Ectopia lentis |
OMIM:110150 |
Oculoauricular Syndrome |
|
Cataract, Sclerocornea, Phthisis bulbi, Chorioretinal atrophy, Developmental cataract, Microcorne... |
OMIM:612109 |
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Microcornea, Posterior lenticonus, Chorioretinal coloboma, Microphthalmia, Iris coloboma |
ORPHA:231736 |
Bilateral Acute Depigmentation Of The Iris |
|
Iris pigment dispersion, Abnormal corneal endothelium morphology, Abnormal iris pigmentation, Pig... |
ORPHA:69736 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3 |
|
Microphthalmia |
OMIM:616335 |
Cataract 50 With Or Without Glaucoma |
|
Cataract, Persistent pupillary membrane |
OMIM:620253 |
Cataract-Deafness-Hypogonadism Syndrome |
|
Developmental cataract |
ORPHA:1383 |
Hypomyelination-Congenital Cataract Syndrome |
|
Developmental cataract |
ORPHA:85163 |
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
Microphthalmia |
OMIM:251700 |
Cataract-Hypertrichosis-Intellectual Disability Syndrome |
|
Developmental cataract |
ORPHA:1375 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Cataract, Corneal opacity, Chorioretinal coloboma, Microphthalmia, Posterior embryotoxon, Iris co... |
ORPHA:1473 |
Gombo Syndrome |
|
Microphthalmia |
OMIM:233270 |
Autosomal Dominant Keratitis |
|
Hypoplasia of the fovea, Cataract, Keratitis, Bilateral microphthalmos, Abnormal corneal limbus m... |
ORPHA:2334 |
Nathalie Syndrome |
|
Cataract |
OMIM:255990 |
Isolated Aniridia |
|
Aniridia, Cataract, Aplasia/Hypoplasia of the macula, Peters anomaly |
ORPHA:250923 |
Microphthalmia, Syndromic 13 |
|
Microcornea, Microphthalmia, Iris coloboma, Chorioretinal coloboma |
OMIM:300915 |
Megalocornea |
|
Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d... |
OMIM:309300 |
Cataract-Nephropathy-Encephalopathy Syndrome |
|
Cataract |
ORPHA:1380 |
Albinism, Oculocutaneous, Type Iv |
|
Hypopigmentation of hair, Macular hypoplasia, Blue irides, Albinism |
OMIM:606574 |
Coats Disease |
|
Aplasia/Hypoplasia of the iris, Cataract, Abnormal anterior chamber morphology |
ORPHA:190 |
Aniridia 2 |
|
Aniridia, Iris coloboma, Cataract, Lens subluxation |
OMIM:617141 |
Spondylo-Ocular Syndrome |
|
Cataract, Microphthalmia, Aplasia/Hypoplasia of the lens, Iris hypopigmentation |
ORPHA:85194 |
Cataract 8, Multiple Types |
|
Nuclear cataract, Developmental cataract |
OMIM:115665 |
Optic Atrophy 3, Autosomal Dominant |
|
Cataract |
OMIM:165300 |
Microphthalmia, Isolated, With Corectopia |
|
Microphthalmia, Ectopia pupillae |
OMIM:156900 |
Anterior Segment Dysgenesis 4 |
|
Hypoplastic iris stroma, Iris hypopigmentation |
OMIM:137600 |
Cataract 47 |
|
Microcornea, Cataract |
OMIM:612018 |
Cornea Plana 2, Autosomal Recessive |
|
Flat cornea, Corneal opacity, Sclerocornea, Corneal arcus, Decreased corneal thickness, Microphth... |
OMIM:217300 |
Tietz Albinism-Deafness Syndrome |
|
White eyelashes, White eyebrow, Blue irides, Generalized hypopigmentation, Heterochromia iridis |
OMIM:103500 |
Dilution, Pigmentary |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
OMIM:126070 |
Cataract 22, Multiple Types |
|
Nuclear cataract, Developmental cataract |
OMIM:609741 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Hypopigmentation of hair, Cataract, Corneal opacity, Aplasia/Hypoplasia of the iris, Persistent p... |
ORPHA:1067 |
Intellectual Developmental Disorder, X-Linked 72 |
|
Hyperactivity, Abnormal repetitive mannerisms |
OMIM:300271 |
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Microphthalmia, Ocular anterior segment dysgenesis, Developmental cataract |
ORPHA:324416 |
Microphthalmia, Isolated 4 |
|
Microphthalmia |
OMIM:613094 |
Hemolytic Anemia Due To Glutathione Reductase Deficiency |
|
Cataract |
OMIM:618660 |
Griscelli Syndrome Type 3 |
|
Hypopigmentation of hair, Partial albinism, Iris hypopigmentation |
ORPHA:79478 |
Oculocutaneous Albinism, Type Viii |
|
Hypoplasia of the fovea, Hypopigmentation of hair, Iris transillumination defect, Chorioretinal h... |
OMIM:619165 |
Microphthalmia, Isolated 5 |
|
Microphthalmia, Bone spicule pigmentation of the retina, Cataract |
OMIM:611040 |
Exfoliation Syndrome |
|
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab... |
OMIM:177650 |
Peroxisome Biogenesis Disorder 2B |
|
Polar cataract |
OMIM:202370 |
Anterior Segment Dysgenesis 3 |
|
Rieger anomaly, Ectopia pupillae, Hypoplastic iris stroma, Axenfeld anomaly, Peters anomaly, Post... |
OMIM:601631 |
Retinitis Pigmentosa 40 |
|
Bone spicule pigmentation of the retina, Cataract |
OMIM:613801 |
Aniridia 3 |
|
Aniridia, Cataract |
OMIM:617142 |
Nanophthalmos 4 |
|
Microphthalmia |
OMIM:615972 |
Bardet-Biedl Syndrome 18 |
|
Cataract |
OMIM:615995 |
X-Linked Intellectual Disability-Retinitis Pigmentosa Syndrome |
|
Iris hypopigmentation |
ORPHA:85332 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Abnormality of retinal pigmentation, Cataract, Chorioretinal dysplasia, Abnormality of skin pigme... |
OMIM:251270 |
Waardenburg Syndrome, Type 2B |
|
Premature graying of hair, White forelock, Heterochromia iridis |
OMIM:600193 |
Ectopia Lentis Et Pupillae |
|
Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Persistent pupillary m... |
OMIM:225200 |
Leg, Absence Deformity Of, With Congenital Cataract |
|
Progressive cataract, Developmental cataract |
OMIM:246000 |
Nanophthalmos |
|
Microphthalmia |
ORPHA:35612 |
Oculocutaneous Albinism Type 6 |
|
Abnormal iris pigmentation, Aplasia/Hypoplasia of the macula |
ORPHA:370097 |
Retinitis Pigmentosa 74 |
|
Posterior polar cataract, Pigmentary retinopathy |
OMIM:616562 |
Cataract 21, Multiple Types |
|
Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent cataract, Macular hypoplasi... |
OMIM:610202 |
Aniridia And Absent Patella |
|
Aniridia, Cataract |
OMIM:106220 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Microphthalmia, Cataract |
OMIM:601794 |
Intellectual Developmental Disorder, Autosomal Recessive 50 |
|
Heterochromia iridis |
OMIM:616460 |
Myopia 17, Autosomal Dominant |
|
Presenile cataracts |
OMIM:608367 |
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Cataract, Corneal scarring, Buphthalmos, Chorioretinal coloboma, Microphthalmia, Iris coloboma |
OMIM:212550 |
Intellectual Developmental Disorder, X-Linked 109 |
|
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... |
OMIM:309548 |
2Q24 Microdeletion Syndrome |
|
Microphthalmia, Cataract, Abnormality iris morphology |
ORPHA:1617 |
Proximal Myotonic Myopathy |
|
Cataract |
ORPHA:606 |
Cataract 14, Multiple Types |
|
Zonular cataract |
OMIM:601885 |
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Microphthalmia, Cataract |
ORPHA:363741 |
X-Linked Corneal Dermoid |
|
Abnormal pupil morphology, Corneal opacity |
ORPHA:1661 |
Fraxe Intellectual Disability |
|
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... |
ORPHA:100973 |
Waardenburg Syndrome, Type 2F |
|
Hypopigmentation of the skin, Hypermelanotic macule, White hair, Blue irides, Premature graying o... |
OMIM:619947 |
Intellectual Developmental Disorder, Autosomal Dominant 33 |
|
Hyperactivity |
OMIM:616311 |
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma |
|
Microphthalmia, Shallow anterior chamber |
OMIM:267760 |
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1 |
|
Microcornea, Cataract |
OMIM:619082 |
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Self-injurious behavior, Hyperactivity, Aggressive behavior |
OMIM:619031 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder |
OMIM:301008 |
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome |
|
Cataract |
ORPHA:2278 |
Leber Congenital Amaurosis 7 |
|
Keratoconus, Cataract |
OMIM:613829 |
Cataract 17, Multiple Types |
|
Microcornea, Nuclear cataract, Pulverulent cataract, Developmental cataract |
OMIM:611544 |
Cataract 10, Multiple Types |
|
Nuclear cataract, Zonular cataract, Posterior Y-sutural cataract, Developmental cataract |
OMIM:600881 |
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Microphthalmia |
ORPHA:1574 |
Alport Syndrome 3A, Autosomal Dominant |
|
Anterior polar cataract, Lenticonus |
OMIM:104200 |
Insulinomatosis And Diabetes Mellitus |
|
Developmental glaucoma, Developmental cataract |
OMIM:147630 |
Myopia 28, Autosomal Recessive |
|
Cataract |
OMIM:619781 |
Pellagra-Like Syndrome |
|
Cataract |
OMIM:260650 |
Thanatophoric Dysplasia, Glasgow Variant |
|
Cataract |
OMIM:273680 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Microcornea, Microphthalmia, Cataract |
OMIM:616171 |
Cataract 3, Multiple Types |
|
Nuclear pulverulent cataract, Sutural cataract, Cerulean cataract, Developmental cataract |
OMIM:601547 |
Otodental Syndrome |
|
Cataract, Lens coloboma, Microcornea, Microphthalmia, Iris coloboma |
ORPHA:2791 |
Cerebral Amyloid Angiopathy, Itm2B-Related, 2 |
|
Posterior polar cataract |
OMIM:117300 |
Norrie Disease |
|
Cataract, Corneal opacity, Leukocoria, Hypoplasia of the iris, Buphthalmos, Shallow anterior cham... |
OMIM:310600 |
Cataract 2, Multiple Types |
|
Aculeiform cataract, Nuclear pulverulent cataract, Developmental cataract, Microcornea, Nuclear c... |
OMIM:604307 |
Retinitis Pigmentosa 9 |
|
Bone spicule pigmentation of the retina, Cataract |
OMIM:180104 |
Cofs Syndrome |
|
Microphthalmia, Cataract, Abnormality of retinal pigmentation |
ORPHA:1466 |
Horner Syndrome, Congenital |
|
Heterochromia iridis |
OMIM:143000 |
Cochleosaccular Degeneration-Cataract Syndrome |
|
Cataract |
ORPHA:3233 |
Cataract 48 |
|
Cataract |
OMIM:618415 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Microphthalmia, Cataract |
OMIM:613730 |
Leber Congenital Amaurosis 6 |
|
Keratoconus, Cataract |
OMIM:613826 |
Nail-Patella Syndrome |
|
Keratoconus, Cataract, Antecubital pterygium, Microcornea, Microphakia, Lester's sign |
OMIM:161200 |
Waardenburg Syndrome, Type 4B |
|
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai... |
OMIM:613265 |
Microphthalmia With Brain And Digit Anomalies |
|
Anophthalmia, Cataract, Sclerocornea, Microcornea, Chorioretinal coloboma, Microphthalmia, Iris c... |
ORPHA:139471 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Cataract, Corneal opacity, Phthisis bulbi, Leukocoria, Uveitis, Buphthalmos, Microcornea, Shallow... |
OMIM:221900 |
Microcephaly-Albinism-Digital Anomalies Syndrome |
|
Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:2513 |
Hypogonadism-Cataract Syndrome |
|
Cataract |
OMIM:240950 |
Cat-Eye Syndrome |
|
Microphthalmia, Iris coloboma, Chorioretinal coloboma |
ORPHA:195 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type |
|
Hyperactivity, Inflexible adherence to routines |
OMIM:301076 |
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness |
|
Anterior polar cataract |
OMIM:250420 |
Cataract 1, Multiple Types |
|
Microcornea, Posterior subcapsular cataract, Nuclear cataract, Pulverulent cataract |
OMIM:116200 |
Peters Anomaly |
|
Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c... |
ORPHA:708 |
Adult-Onset Foveomacular Vitelliform Dystrophy |
|
Choroideremia, Iris hypopigmentation |
ORPHA:99000 |
Stickler Syndrome Type 2 |
|
Cataract, Corneal opacity |
ORPHA:90654 |
Usher Syndrome Type 3 |
|
Cataract, Astigmatism, Iris hypopigmentation |
ORPHA:231183 |
Hyperferritinemia With Or Without Cataract |
|
Nuclear cataract, Pulverulent cataract |
OMIM:600886 |
Nance-Horan Syndrome |
|
Microcornea, Microphthalmia, Cataract |
ORPHA:627 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Microphthalmia, Cataract, Optic nerve hypoplasia |
OMIM:615181 |
Mend Syndrome |
|
Anterior polar cataract, Macular hypoplasia, Spotty hypopigmentation, Cataract |
OMIM:300960 |
Retinal Dystrophy And Iris Coloboma With Or Without Cataract |
|
Posterior synechiae of the anterior chamber, Iris coloboma, Developmental cataract |
OMIM:616722 |
Developmental And Epileptic Encephalopathy 104 |
|
Self-injurious behavior, Hyperactivity, Agitation |
OMIM:619970 |
Microphthalmia, Syndromic 8 |
|
Microcornea, Microphthalmia |
OMIM:601349 |
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts |
|
Cataract |
OMIM:183800 |
Leber Congenital Amaurosis 8 |
|
Keratoconus, Cataract, Chorioretinal atrophy, Nummular pigmentation of the fundus, Pigmentary ret... |
OMIM:613835 |
Lissencephaly 8 |
|
Microphthalmia, Cataract |
OMIM:617255 |
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Hyperactivity |
ORPHA:436151 |
Vitreoretinochoroidopathy |
|
Pulverulent cataract, Developmental cataract, Microcornea, Pigmentary retinopathy, Microphthalmia... |
OMIM:193220 |
Facial Clefting, Oblique, 1 |
|
Microphthalmia |
OMIM:600251 |
Cerebrooculofacioskeletal Syndrome 2 |
|
Microphthalmia, Cataract, Developmental cataract |
OMIM:610756 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Microphthalmia, Cataract |
OMIM:618805 |
Chromosome 11P13 Deletion Syndrome, Distal |
|
Aniridia |
OMIM:616902 |
Retinitis Pigmentosa 4 |
|
Pigmentary retinopathy, Bone spicule pigmentation of the retina, Cataract |
OMIM:613731 |
Supernumerary Nostril |
|
Microcornea, Developmental cataract |
ORPHA:141096 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Microcornea, Microphthalmia, Cataract |
ORPHA:48431 |
Neurofacioskeletal Syndrome With Or Without Renal Agenesis |
|
Hypoplasia of the iris, Anterior polar cataract, Posterior embryotoxon |
OMIM:619194 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Microphthalmia, Developmental cataract |
OMIM:613155 |
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome |
|
Premature graying of hair, Heterochromia iridis |
ORPHA:66633 |
Myopia, High, With Cataract And Vitreoretinal Degeneration |
|
Cataract, Lens subluxation |
OMIM:614292 |
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts |
|
Developmental cataract |
OMIM:600559 |
Waardenburg Syndrome, Type 2A |
|
White eyelashes, White eyebrow, Partial albinism, Albinism, Premature graying of hair, Numerous p... |
OMIM:193510 |
3-Methylglutaconic Aciduria Type 4 |
|
Cataract, Iris hypopigmentation |
ORPHA:67048 |
Microphthalmia, Syndromic 5 |
|
Anophthalmia, Cataract, Optic nerve hypoplasia, Microcornea, Microphthalmia |
OMIM:610125 |
Retinitis Pigmentosa 84 |
|
Bone spicule pigmentation of the retina, Cataract |
OMIM:618220 |
Fryns Microphthalmia Syndrome |
|
Microphthalmia, Anophthalmia |
OMIM:600776 |
Developmental Delay With Variable Neurologic And Brain Abnormalities |
|
Microphthalmia, Astigmatism, Cataract |
OMIM:619694 |
Oculopalatocerebral Syndrome |
|
Microphthalmia, Leukocoria |
OMIM:257910 |
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Cataract, Microcornea, Iris transillumination defect, Microphthalmia, Generalized hypopigmentation |
OMIM:617306 |
Microphthalmia, Isolated, With Coloboma 9 |
|
Sclerocornea, Microcornea, Microphthalmia, Ocular anterior segment dysgenesis, Iris coloboma |
OMIM:615145 |
Developmental And Epileptic Encephalopathy 43 |
|
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder |
OMIM:617113 |
Congenital Rubella Syndrome |
|
Abnormality of retinal pigmentation, Cataract, Corneal opacity, Aplasia/Hypoplasia of the iris, M... |
ORPHA:290 |
Coloboma, Ocular, Autosomal Dominant |
|
Optic nerve aplasia, Corneal opacity, Chorioretinal coloboma, Peters anomaly, Microphthalmia |
OMIM:120200 |
Blepharoptosis-Myopia-Ectopia Lentis Syndrome |
|
Abnormality of retinal pigmentation, Iris coloboma, Ectopia lentis |
ORPHA:1259 |
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Anterior polar cataract |
OMIM:619575 |
Amoebic Keratitis |
|
Iris atrophy, Anterior uveitis, Cataract, Abnormal corneal epithelium morphology, Abnormal anteri... |
ORPHA:67043 |
Iridocorneal Endothelial Syndrome |
|
Iris atrophy, Central heterochromia, Uveal ectropion, Abnormal migration of corneal endothelium, ... |
ORPHA:64734 |
Aniridia-Absent Patella Syndrome |
|
Aniridia, Cataract |
ORPHA:1069 |
Albinism, Oculocutaneous, Type Ii |
|
Hypoplasia of the fovea, Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Blue ... |
OMIM:203200 |
Bartsocas-Papas Syndrome 2 |
|
Corneal opacity, Antecubital pterygium, Popliteal pterygium, Microphthalmia, Axillary pterygium |
OMIM:619339 |
Rodrigues Blindness |
|
Microcornea, Microphthalmia, Sclerocornea |
OMIM:268320 |
Idiopathic Uveal Effusion Syndrome |
|
Microphthalmia, Abnormal anterior eye segment morphology |
ORPHA:209956 |
Ectodermal Dysplasia-Blindness Syndrome |
|
Cataract, Corneal dystrophy, Sclerocornea, Microcornea, Abnormality of skin pigmentation, Keratoc... |
ORPHA:1806 |
WAGR 11p13 deletion syndrome |
|
Aniridia |
DECIPHER:35 |
Microcoria, Congenital |
|
Microcoria, Hypoplasia of the iris dilator muscle |
OMIM:156600 |
Temtamy Syndrome |
|
Microphthalmia, Iris coloboma, Chorioretinal coloboma |
ORPHA:1777 |
Persistent Hyperplastic Primary Vitreous |
|
Cataract, Corneal opacity, Phthisis bulbi, Leukocoria, Developmental cataract, Buphthalmos, Micro... |
ORPHA:91495 |
Vitreoretinal Degeneration, Snowflake Type |
|
Cataract, Corneal guttata |
OMIM:193230 |
X-Linked Recessive Ocular Albinism |
|
Hypoplasia of the fovea, Abnormal pupil morphology, Ocular albinism, Astigmatism, Giant melanosom... |
ORPHA:54 |
Corneal Dystrophy, Posterior Amorphous |
|
Ectopia pupillae, Iris coloboma, Corneal dystrophy |
OMIM:612868 |
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
|
Cataract, Corneal opacity, Chorioretinal dysplasia, Chorioretinal lacunae, Myopic astigmatism, Mi... |
OMIM:152950 |
Weill-Marchesani Syndrome 4 |
|
Iridodonesis, Ectopia lentis, Shallow anterior chamber, Posterior synechiae of the anterior chamb... |
OMIM:613195 |
Cryptophthalmos, Unilateral Or Bilateral, Isolated |
|
Microphthalmia |
OMIM:123570 |
Cardiomyopathy, Dilated, 1Ii |
|
Cataract |
OMIM:615184 |
Usher Syndrome Type 1 |
|
Cataract, Iris hypopigmentation |
ORPHA:231169 |
Mmep Syndrome |
|
Microphthalmia |
ORPHA:3434 |
Warburg Micro Syndrome 1 |
|
Microcornea, Microphthalmia, Developmental cataract |
OMIM:600118 |
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 |
Oculocutaneous Albinism Type 1 |
|
Hypoplasia of the fovea, White eyelashes, White eyebrow, Blue irides, Iris transillumination defe... |
ORPHA:352731 |
Cerebrooculofacioskeletal Syndrome 3 |
|
Microphthalmia |
OMIM:616570 |
Waardenburg Syndrome, Type 4A |
|
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai... |
OMIM:277580 |
Morning Glory Disc Anomaly |
|
Abnormality of retinal pigmentation, Cataract |
ORPHA:35737 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Microphthalmia, Cataract |
ORPHA:93267 |
Kniest Dysplasia |
|
Cataract, Aplasia/Hypoplasia of the lens, Lens luxation |
ORPHA:485 |
Cataract, Age-Related Nuclear |
|
Nuclear cataract |
OMIM:601371 |
Cataract 18 |
|
Nuclear cataract |
OMIM:610019 |
Cataract 41 |
|
Nuclear cataract |
OMIM:116400 |
Microphthalmia, Isolated 8 |
|
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia |
OMIM:615113 |
Intellectual Developmental Disorder, Autosomal Dominant 67 |
|
Motor tics, Hyperactivity, Compulsive behaviors, Attention deficit hyperactivity disorder |
OMIM:619927 |
Hartnup Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:234500 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Microphthalmia |
OMIM:614830 |
Hyperprolinemia, Type I |
|
Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior |
OMIM:239500 |
Glycine Encephalopathy 1 |
|
Restlessness, Hyperactivity, Impulsivity, Aggressive behavior |
OMIM:605899 |
Frontofacionasal Dysplasia |
|
Cataract, Brushfield spots, Microcornea, Limbal dermoid, Microphthalmia, Iris coloboma |
ORPHA:1791 |
Temtamy Syndrome |
|
Ectopia lentis, Lens luxation, Chorioretinal coloboma, Microphthalmia, Iris coloboma |
OMIM:218340 |
Intellectual Developmental Disorder, X-Linked 111 |
|
Hyperactivity, Phonic tics, Compulsive behaviors, Aggressive behavior |
OMIM:301107 |
Pelvis-Shoulder Dysplasia |
|
Microphthalmia, Iris coloboma, Opacification of the corneal stroma |
OMIM:169550 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Microphthalmia, Cataract, Corneal opacity |
OMIM:613153 |
Isolated Ectopia Lentis |
|
Ectopia pupillae, Cataract, Ectopia lentis |
ORPHA:1885 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Microphthalmia, Lens coloboma |
OMIM:618914 |
Methionine Malabsorption Syndrome |
|
White hair, Blue irides |
OMIM:250900 |
Cataract 20, Multiple Types |
|
Lamellar cataract, Membranous cataract, Sutural cataract, Cortical cataract |
OMIM:116100 |
X-Linked Endothelial Corneal Dystrophy |
|
Abnormal corneal endothelium morphology, Nuclear cataract, Corneal opacity, Band keratopathy |
ORPHA:293621 |
Phenylketonuria |
|
Fair hair, Generalized hypopigmentation, Cataract, Blue irides |
OMIM:261600 |
Oculocutaneous Albinism Type 4 |
|
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,... |
ORPHA:79435 |
Congenital Microcoria |
|
Developmental cataract, Corneal stromal edema, Iris transillumination defect, Nuclear cataract, A... |
ORPHA:566 |
Fanconi Anemia, Complementation Group J |
|
Microphthalmia |
OMIM:609054 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Anophthalmia, Cataract, Sclerocornea, Microcornea, Ectopia pupillae, Microphthalmia |
OMIM:615877 |
Kyrle Disease |
|
Posterior subcapsular cataract |
OMIM:149500 |
Cataract 43 |
|
Posterior subcapsular cataract |
OMIM:616279 |
Albinism-Deafness Syndrome |
|
Partial albinism, Piebaldism, Hypopigmented skin patches, Irregular hyperpigmentation, Heterochro... |
ORPHA:998 |
Adams-Oliver Syndrome 4 |
|
Microphthalmia |
OMIM:615297 |
Crome Syndrome |
|
Developmental cataract |
OMIM:218900 |
Corneal Dystrophy, Posterior Polymorphous, 3 |
|
Keratoconus, Ectopia pupillae, Corneal dystrophy, Corneal guttata |
OMIM:609141 |
Craniotelencephalic Dysplasia |
|
Microphthalmia, Optic nerve hypoplasia |
OMIM:218670 |
Griscelli Syndrome Type 1 |
|
Premature graying of hair, White hair, Partial albinism, Iris hypopigmentation |
ORPHA:79476 |
Peroxisome Biogenesis Disorder 14B |
|
Developmental cataract |
OMIM:614920 |
Corneal Dystrophy, Posterior Polymorphous, 1 |
|
Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ... |
OMIM:122000 |
Coloboma, Ocular, Autosomal Recessive |
|
Iris coloboma, Cataract, Lens subluxation |
OMIM:216820 |
Pierpont Syndrome |
|
Microcornea, Microphthalmia |
ORPHA:487825 |
Albinism, Oculocutaneous, Type Vii |
|
Iris transillumination defect, Albinism |
OMIM:615179 |
Microphthalmia, Syndromic 11 |
|
Microphthalmia |
OMIM:614402 |
Chromosome 17Q12 Duplication Syndrome |
|
Microphthalmia, Peters anomaly |
OMIM:614526 |
Congenital Disorder Of Glycosylation, Type Iq |
|
Abnormality of skin pigmentation, Microphthalmia, Cataract |
OMIM:612379 |
Genetic Hyperferritinemia Without Iron Overload |
|
Cataract |
ORPHA:254704 |
Phace Syndrome |
|
Cataract, Optic nerve hypoplasia, Sclerocornea, Lens coloboma, Microphthalmia, Heterochromia irid... |
ORPHA:42775 |
3Q29 Microduplication Syndrome |
|
Cataract, Sclerocornea, Aniridia, Microphthalmia, Iris coloboma |
ORPHA:251038 |
8p23.1 deletion syndrome |
|
Hyperactivity |
DECIPHER:39 |
Xeroderma Pigmentosum, Complementation Group D |
|
Cataract, Keratitis, Keratoconjunctivitis sicca, Conjunctivitis, Microphthalmia, Corneal neovascu... |
OMIM:278730 |
Oculocutaneous Albinism Type 3 |
|
White eyelashes, White eyebrow, Freckling, Absent skin pigmentation, Blue irides, Red hair, Gener... |
ORPHA:79433 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Microphthalmia, Cataract, Abnormally large globe |
OMIM:615249 |
Frontonasal Dysplasia 1 |
|
Microphthalmia, Cataract |
OMIM:136760 |
Anterior Segment Dysgenesis 6 |
|
Corneal opacity, Abnormal Descemet membrane morphology, Developmental glaucoma, Posterior synechi... |
OMIM:617315 |
Biemond Syndrome Type 2 |
|
Microphthalmia |
ORPHA:141333 |
Fanconi Anemia, Complementation Group G |
|
Microphthalmia |
OMIM:614082 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Microphthalmia |
OMIM:274270 |
Aniridia 1 |
|
Hypoplasia of the fovea, Anterior subcapsular cataract, Cataract, Optic nerve hypoplasia, Ectopia... |
OMIM:106210 |
Neurooculocardiogenitourinary Syndrome |
|
Microphthalmia, Peters anomaly |
OMIM:618652 |
Microphthalmia, Syndromic 12 |
|
Microphthalmia, Anophthalmia |
OMIM:615524 |
Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Microphthalmia |
OMIM:615771 |
Familial Adenomatous Polyposis Due To 5Q22.2 Microdeletion |
|
Posterior polar cataract, Optic disc hypoplasia |
ORPHA:261584 |
Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Microphthalmia, Cataract, Retinal pigment epithelial mottling |
OMIM:614105 |
Cataract 40 |
|
Nuclear cataract, Sutural cataract |
OMIM:302200 |
Craniotelencephalic Dysplasia |
|
Microphthalmia, Septo-optic dysplasia |
ORPHA:1528 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Microphthalmia, Anophthalmia, Iris coloboma, Sclerocornea |
ORPHA:77298 |
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 |
Corneal Dystrophy, Posterior Polymorphous, 4 |
|
Ectopia pupillae |
OMIM:618031 |
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 |
Pierpont Syndrome |
|
Microcornea, Microphthalmia |
OMIM:602342 |
Familial Exudative Vitreoretinopathy |
|
Microphthalmia, Cataract, Chorioretinal atrophy |
ORPHA:891 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Cataract, Corneal opacity, Bilateral microphthalmos, Microphthalmia, Conjunctival hyperemia |
ORPHA:2399 |
Weill-Marchesani Syndrome 1 |
|
Shallow anterior chamber, Microspherophakia, Ectopia lentis, Cataract |
OMIM:277600 |
Ermine Phenotype |
|
Hypopigmentation of hair, Ocular albinism, Hypopigmented skin patches, Astigmatism, Irregular hyp... |
ORPHA:999 |
Chromosome 16Q12 Duplication Syndrome |
|
Anisocoria, Retinal pigment epithelial mottling, Cataract |
OMIM:619649 |
Woolly Hair Nevus |
|
Patchy hypopigmentation of hair, Heterochromia iridis, Persistent pupillary membrane |
ORPHA:79414 |
Prader-Willi Syndrome Due To Imprinting Mutation |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:177910 |
Osteoporosis-Pseudoglioma Syndrome |
|
Microphthalmia, Corneal opacity |
ORPHA:2788 |
Curry-Jones Syndrome |
|
Microphthalmia, Hypopigmented skin patches, Iris coloboma |
ORPHA:1553 |
Xeroderma Pigmentosum, Complementation Group B |
|
Microphthalmia, Cataract, Freckling, Pigmentary retinopathy |
OMIM:610651 |
Exudative Vitreoretinopathy 2, X-Linked |
|
Microphthalmia, Shallow anterior chamber |
OMIM:305390 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Buphthalmos, Microphthalmia, Cataract |
OMIM:616538 |
Norrie Disease |
|
Aplasia/Hypoplasia of the lens, Corneal opacity, Cataract, Sclerocornea, Ectopia lentis, Abnormal... |
ORPHA:649 |
Female Restricted Epilepsy With Intellectual Disability |
|
Hyperactivity, Impulsivity, Abnormal eating behavior, Aggressive behavior, Compulsive behaviors |
ORPHA:101039 |
Adams-Oliver Syndrome 2 |
|
Microphthalmia, Developmental cataract |
OMIM:614219 |
Piebald Trait |
|
Absent pigmentation of the ventral chest, Partial albinism, Piebaldism, White forelock, Heterochr... |
OMIM:172800 |
Xk Aprosencephaly Syndrome |
|
Microphthalmia |
ORPHA:3469 |
Warburg Micro Syndrome 2 |
|
Microcornea, Microphthalmia, Cataract, Developmental cataract |
OMIM:614225 |
Congenital Fibrinogen Deficiency |
|
Microphthalmia, Developmental cataract |
ORPHA:335 |
Tetraamelia-Multiple Malformations Syndrome |
|
Septo-optic dysplasia, Cataract, Microcornea, Microphthalmia, Iris coloboma |
ORPHA:3301 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Cataract, Optic nerve hypoplasia, Abnormality iris morphology, Microphthalmia, Megalocornea |
ORPHA:370959 |
Warburg Micro Syndrome 3 |
|
Cataract, Developmental cataract, Microcornea, Shallow anterior chamber, Microphthalmia |
OMIM:614222 |
Oculocutaneous Albinism Type 2 |
|
Hypoplasia of the fovea, Hypopigmentation of the skin, Hypopigmentation of hair, Abnormality of r... |
ORPHA:79432 |
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Microphthalmia, Ectopia pupillae, Astigmatism, Cataract |
OMIM:618727 |
Trichothiodystrophy 3, Photosensitive |
|
Microphthalmia, Cataract, Developmental cataract |
OMIM:616395 |
Cataract 31, Multiple Types |
|
Posterior subcapsular cataract, Anterior subcapsular cataract, Nuclear cataract |
OMIM:605387 |
Fuchs Heterochromic Iridocyclitis |
|
Anterior chamber inflammatory cells, Iris atrophy, Cataract, Anisocoria, Posterior synechiae of t... |
ORPHA:263479 |
Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior |
OMIM:615541 |
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:617182 |
Bresek Syndrome |
|
Microphthalmia, Iris coloboma, Optic nerve hypoplasia |
ORPHA:85284 |
Sandestig-Stefanova Syndrome |
|
Microphthalmia, Developmental cataract |
OMIM:618804 |
Refsum Disease |
|
Microphthalmia, Cataract, Abnormality of retinal pigmentation |
ORPHA:773 |
Oculofaciocardiodental Syndrome |
|
Cataract, Ectopia lentis, Microcornea, Microphthalmia, Iris coloboma |
ORPHA:2712 |
Stromme Syndrome |
|
Cataract, Optic nerve hypoplasia, Sclerocornea, Microcornea, Peters anomaly, Microphthalmia, Iris... |
OMIM:243605 |
Oculocutaneous Albinism Type 1B |
|
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,... |
ORPHA:79434 |
Histiocytoid Cardiomyopathy |
|
Microphthalmia, Megalocornea, Corneal opacity, Congenital aphakia |
ORPHA:137675 |
Oculo-Palato-Cerebral Syndrome |
|
Microphthalmia, Cataract, Leukocoria |
ORPHA:2714 |
Trisomy 13 |
|
Anophthalmia, Cataract, Aplasia/Hypoplasia of the iris, Microphthalmia, Iris coloboma |
ORPHA:3378 |
Ectopia Pupillae |
|
Ectopia pupillae |
OMIM:129750 |
Warburg Micro Syndrome 4 |
|
Microcornea, Microphthalmia, Developmental cataract |
OMIM:615663 |
Cataract 15, Multiple Types |
|
Lamellar cataract, Nuclear cataract, Cortical cataract |
OMIM:615274 |
Cataract 33, Multiple Types |
|
Lamellar cataract, Nuclear cataract, Cortical cataract |
OMIM:611391 |
Weill-Marchesani Syndrome 2 |
|
Iridodonesis, Cataract, Lens luxation, Ectopia lentis, Microspherophakia, Shallow anterior chambe... |
OMIM:608328 |
Deaf Blind Hypopigmentation Syndrome, Yemenite Type |
|
Hypopigmentation of hair, Hypopigmented skin patches, Microcornea, Anterior synechiae of the ante... |
ORPHA:3214 |
Albinism, Oculocutaneous, Type Ia |
|
Hypoplasia of the fovea, Hypopigmentation of hair, Albinism, Absent skin pigmentation, White hair... |
OMIM:203100 |
8Q21.11 Microdeletion Syndrome |
|
Cataract, Corneal opacity, Sclerocornea, Microphthalmia, Iris hypopigmentation |
ORPHA:284160 |
Rere-Related Neurodevelopmental Syndrome |
|
Astigmatism, Chorioretinal coloboma, Peters anomaly, Microphthalmia, Iris coloboma |
ORPHA:494344 |
Visual Impairment And Progressive Phthisis Bulbi |
|
Phthisis bulbi, Flat cornea |
OMIM:618283 |
Walker-Warburg Syndrome |
|
Anophthalmia, Corneal opacity, Cataract, Chorioretinal dysplasia, Microcornea, Microphthalmia, Ir... |
ORPHA:899 |
Hermansky-Pudlak Syndrome 11 |
|
Hypoplasia of the fovea, Albinism, Ocular albinism, Melanocytic nevus, Iris transillumination def... |
OMIM:619172 |
Pierson Syndrome |
|
Rieger anomaly, Hypoplasia of the ciliary body, Cataract, Microcoria, Uveal ectropion, Hypoplasia... |
OMIM:609049 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Microphthalmia, Cataract |
OMIM:214150 |
Waardenburg Syndrome, Type 2E |
|
White eyelashes, White eyebrow, Ocular albinism, Blue irides, Hypopigmented skin patches, Hypopla... |
OMIM:611584 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Microphthalmia, Cataract |
ORPHA:163649 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Cataract, Buphthalmos, Persistent pupillary membrane, Peters anomaly, Microphthalmia |
OMIM:613150 |
Oculocutaneous Albinism Type 1A |
|
Hypoplasia of the fovea, Hypopigmentation of hair, Albinism, Ocular albinism, Freckling, Hypopigm... |
ORPHA:79431 |
Enhanced S-Cone Syndrome |
|
Pigmentary retinopathy, Cataract |
OMIM:268100 |
Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Hyperactivity, Recurrent hand flapping, Self-mutilation, Aggressive behavior |
OMIM:615516 |
Frontorhiny |
|
Microphthalmia, Cataract, Iris coloboma |
ORPHA:391474 |
Oculocerebrocutaneous Syndrome |
|
Microphthalmia, Anophthalmia |
OMIM:164180 |
Facial Spasm |
|
Anisocoria |
OMIM:134300 |
Deafness, X-Linked 7 |
|
Unilateral microphthalmos |
OMIM:301018 |
Kapur-Toriello Syndrome |
|
Microphthalmia, Cataract, Iris coloboma |
OMIM:244300 |
Usher Syndrome Type 2 |
|
Cataract, Iris hypopigmentation |
ORPHA:231178 |
Encephalocraniocutaneous Lipomatosis |
|
Linear hyperpigmentation, Sclerocornea, Hypoplasia of the iris, Limbal dermoid, Microphthalmia |
OMIM:613001 |
Gracile Bone Dysplasia |
|
Aniridia, Microphthalmia |
OMIM:602361 |
Cahmr Syndrome |
|
Lamellar cataract |
OMIM:211770 |
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies |
|
Microphthalmia, Astigmatism, Cataract |
OMIM:618571 |
Arrhinia-Choanal Atresia-Microphthalmia Syndrome |
|
Microphthalmia |
ORPHA:1135 |
Kapur-Toriello Syndrome |
|
Microphthalmia, Iris coloboma |
ORPHA:2328 |
Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Hyperactivity, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Freque... |
OMIM:620141 |
Microphthalmia, Lenz Type |
|
Cataract, Microcornea, Chorioretinal coloboma, Microphthalmia, Iris coloboma |
ORPHA:568 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Microphthalmia, Anophthalmia, Iris coloboma, Cataract |
ORPHA:2250 |
Micro Syndrome |
|
Microcornea, Microphthalmia, Cataract, Abnormality of retinal pigmentation |
ORPHA:2510 |
Phace Association |
|
Microphthalmia, Optic nerve hypoplasia, Developmental cataract |
OMIM:606519 |
Congenital Toxoplasmosis |
|
Microphthalmia, Abnormality of retinal pigmentation |
ORPHA:858 |
Histidinemia |
|
Hyperactivity |
ORPHA:2157 |
Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Cataract, White hair, Ocular albinism, Generalized hypopigmentation, Iris hypopigmentation |
ORPHA:2720 |
Multiple Benign Circumferential Skin Creases On Limbs |
|
Microcornea, Microphthalmia, Irregular hyperpigmentation |
ORPHA:2505 |
Braddock-Carey Syndrome 2 |
|
Microphthalmia |
OMIM:619981 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Microphthalmia, Conjunctival hyperemia |
OMIM:167730 |
Baraitser-Winter Syndrome 1 |
|
Microphthalmia, Iris coloboma, Chorioretinal coloboma |
OMIM:243310 |
Trichothiodystrophy 4, Nonphotosensitive |
|
Microcornea, Microphthalmia, Keratoconjunctivitis sicca |
OMIM:234050 |
Hermansky-Pudlak Syndrome 5 |
|
Hypoplasia of the fovea, Iris transillumination defect, Ocular albinism, Albinism |
OMIM:614074 |
Meckel Syndrome, Type 8 |
|
Microphthalmia, Anophthalmia |
OMIM:613885 |
Chromosome 8Q21.11 Deletion Syndrome |
|
Microphthalmia, Cataract, Pigmentary retinopathy, Sclerocornea |
OMIM:614230 |
Intellectual Developmental Disorder, X-Linked 107 |
|
Hyperactivity, Attention deficit hyperactivity disorder, Aggressive behavior |
OMIM:301013 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Abnormality of retinal pigmentation, Corneal opacity, Ectopia pupillae, Lens subluxation, Microph... |
ORPHA:85167 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Microcornea, Microphthalmia, Cataract, Persistent pupillary membrane |
OMIM:257850 |
Joubert Syndrome 22 |
|
Microphthalmia |
OMIM:615665 |
Cataract 23, Multiple Types |
|
Lamellar cataract |
OMIM:610425 |
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome |
|
Microphthalmia, Ocular albinism |
ORPHA:1352 |
Late-Onset Retinal Degeneration |
|
Iris atrophy, Choroidal neovascularization, Abnormal anterior eye segment morphology, Chorioretin... |
ORPHA:67042 |
Oculogastrointestinal Neurodevelopmental Syndrome |
|
Bilateral microphthalmos, Unilateral microphthalmos |
OMIM:619318 |
X-Linked Dominant Chondrodysplasia Punctata |
|
Microcornea, Microphthalmia, Cataract |
ORPHA:35173 |
Frontonasal Dysplasia 3 |
|
Microphthalmia |
OMIM:613456 |
Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Microphthalmia |
ORPHA:2547 |
Frontofacionasal Dysplasia |
|
Microcornea, Microphthalmia, Cataract, Iris coloboma |
OMIM:229400 |
Neuroocular Syndrome |
|
Hypoplasia of the fovea, Cataract, Brushfield spots, Lens coloboma, Blue irides, Microcornea, Pet... |
OMIM:619539 |
Hartsfield Syndrome |
|
Microphthalmia |
ORPHA:2117 |
Complex Regional Pain Syndrome |
|
Allodynia |
ORPHA:83452 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Cataract, Sclerocornea, Pigmentary retinopathy, Peters anomaly, Microphthalmia, Iris coloboma |
OMIM:309801 |
Hermansky-Pudlak Syndrome 8 |
|
Hypoplasia of the fovea, Albinism, Silver-gray hair, Myopic astigmatism, Blue irides, Ocular albi... |
OMIM:614077 |
Fanconi Anemia, Complementation Group I |
|
Microphthalmia, Cafe-au-lait spot, Astigmatism, Optic nerve hypoplasia |
OMIM:609053 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Microcornea, Microphthalmia, Cataract |
OMIM:616449 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Microphthalmia, Hyperpigmented streaks, Sclerocornea |
OMIM:300952 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Microphthalmia, Cataract, Optic nerve hypoplasia, Peters anomaly |
OMIM:614643 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Microphthalmia |
OMIM:602501 |
Kenny-Caffey Syndrome, Type 2 |
|
Microphthalmia, Developmental cataract |
OMIM:127000 |
Coats Disease |
|
Leukocoria |
OMIM:300216 |
3Q29 Microdeletion Syndrome |
|
Abnormality of skin pigmentation, Microphthalmia, Cataract |
ORPHA:65286 |
17Q12 Microduplication Syndrome |
|
Microphthalmia |
ORPHA:261272 |
Trichothiodystrophy 1, Photosensitive |
|
Cataract, Freckling, Microcornea, Keratoconjunctivitis sicca, Microphthalmia |
OMIM:601675 |
Developmental And Epileptic Encephalopathy 1 |
|
Microphthalmia |
OMIM:308350 |
Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Microphthalmia |
OMIM:300887 |
Oculotrichoanal Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2717 |
Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Microcornea, Microphthalmia |
OMIM:110100 |
Seckel Syndrome 2 |
|
Microphthalmia |
OMIM:606744 |
Linear Nevus Sebaceus Syndrome |
|
Microphthalmia, Irregular hyperpigmentation, Iris coloboma, Melanocytic nevus |
ORPHA:2612 |
Waardenburg Syndrome, Type 4C |
|
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai... |
OMIM:613266 |
Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Hypopigmentation of hair, Cataract, Corneal opacity, Ocular albinism, Choroideremia, Aplasia/Hypo... |
ORPHA:2719 |
Microphthalmia-Brain Atrophy Syndrome |
|
Bilateral microphthalmos |
ORPHA:77299 |
Papillorenal Syndrome |
|
Microphthalmia, Cataract, Chorioretinal atrophy, Lens luxation |
OMIM:120330 |
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Microphthalmia, Optic nerve hypoplasia |
OMIM:614833 |
Baraitser-Winter Syndrome 2 |
|
Microphthalmia |
OMIM:614583 |
Microphthalmia, Syndromic 3 |
|
Optic nerve aplasia, Anophthalmia, Cataract, Optic nerve hypoplasia, Sclerocornea, Microphthalmia |
OMIM:206900 |
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Iris coloboma, Cafe-au-lait spot, Unilateral microphthalmos |
OMIM:618874 |
Monosomy 13Q14 |
|
Microphthalmia, Cataract, Iris coloboma |
ORPHA:1587 |
Meckel Syndrome, Type 5 |
|
Microphthalmia |
OMIM:611561 |
Skin Creases, Congenital Symmetric Circumferential, 1 |
|
Microcornea, Microphthalmia |
OMIM:156610 |
Adams-Oliver Syndrome |
|
Microphthalmia, Cataract |
ORPHA:974 |
Martsolf Syndrome 1 |
|
Microphthalmia, Cataract, Developmental cataract |
OMIM:212720 |
Lymphedema-Distichiasis Syndrome |
|
Microphthalmia, Corneal ulceration, Conjunctivitis, Recurrent corneal erosions |
OMIM:153400 |
Marfan Syndrome |
|
Cataract, Ectopia lentis, Microspherophakia, Increased axial length of the globe, Hypoplasia of t... |
OMIM:154700 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Cataract, Corneal opacity, Optic nerve hypoplasia, Buphthalmos, Peters anomaly, Microphthalmia, M... |
OMIM:236670 |
Osteoporosis-Pseudoglioma Syndrome |
|
Iris atrophy, Cataract, Phthisis bulbi, Absent anterior chamber of the eye, Microphthalmia |
OMIM:259770 |
1Q21.1 Microdeletion Syndrome |
|
Microphthalmia, Cataract, Iris coloboma |
ORPHA:250989 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Ocular anterior segment dysgenesis, Bilateral microphthalmos |
ORPHA:369891 |
Axenfeld-Rieger Syndrome, Type 1 |
|
Rieger anomaly, Polycoria, Hypoplasia of the iris, Microcornea, Ectopia pupillae, Aniridia, Megal... |
OMIM:180500 |
Juvenile Xanthogranuloma |
|
Multiple cafe-au-lait spots, Uveitis, Iritis, Asymmetry of iris pigmentation |
ORPHA:158000 |
Acro-Renal-Ocular Syndrome |
|
Cataract, Optic disc hypoplasia, Microcornea, Chorioretinal coloboma, Microphthalmia, Iris coloboma |
ORPHA:959 |
Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Microphthalmia, Cataract |
OMIM:302960 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Microphthalmia, Cataract |
OMIM:253800 |
Osteopetrosis, Autosomal Recessive 8 |
|
Unilateral microphthalmos |
OMIM:615085 |
Galloway-Mowat Syndrome 1 |
|
Cataract, Hypoplasia of the iris, Opacification of the corneal stroma, Microphthalmia, Hypopigmen... |
OMIM:251300 |
Steinfeld Syndrome |
|
Microphthalmia, Iris coloboma |
OMIM:184705 |
Ring Chromosome 10 Syndrome |
|
Microphthalmia |
ORPHA:1438 |
Sponastrime Dysplasia |
|
Microcoria, Cataract, Congenital aphakia |
ORPHA:93357 |
Incontinentia Pigmenti |
|
Hypoplasia of the fovea, Cataract, Keratitis, Uveitis, Abnormality of skin pigmentation, Micropht... |
OMIM:308300 |
Acrofrontofacionasal Dysostosis 1 |
|
Microphthalmia, Iris atrophy |
OMIM:201180 |
Incontinentia Pigmenti |
|
Cataract, Corneal opacity, Abnormal chorioretinal morphology, Keratitis, Hypopigmented skin patch... |
ORPHA:464 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 10 |
|
Microphthalmia |
OMIM:619053 |
Focal Dermal Hypoplasia |
|
Corneal opacity, Ectopia lentis, Hypoplasia of the iris, Abnormality of skin pigmentation, Chorio... |
ORPHA:2092 |
Waardenburg Syndrome, Type 1 |
|
White eyelashes, Partial albinism, White eyebrow, Blue irides, Premature graying of hair, White f... |
OMIM:193500 |
Meckel Syndrome |
|
Anophthalmia, Cataract, Abnormal chorioretinal morphology, Sclerocornea, Aplasia/Hypoplasia of th... |
ORPHA:564 |
Subaortic Stenosis-Short Stature Syndrome |
|
Microphthalmia |
ORPHA:3191 |
Duane-Radial Ray Syndrome |
|
Microphthalmia, Cataract, Optic disc hypoplasia, Iris coloboma |
OMIM:607323 |
Mycophenolate Mofetil Embryopathy |
|
Microphthalmia, Iris coloboma, Chorioretinal coloboma |
ORPHA:268249 |
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome |
|
Microphthalmia, Iris coloboma |
ORPHA:1236 |
Atelis Syndrome 2 |
|
Microphthalmia, Developmental cataract |
OMIM:620185 |
Aortic Aneurysm, Familial Thoracic 4 |
|
Abnormal iris pigmentation |
OMIM:132900 |
Vacterl With Hydrocephalus |
|
Microcornea, Microphthalmia, Anophthalmia |
ORPHA:3412 |
Pelvis-Shoulder Dysplasia |
|
Microcornea, Bilateral microphthalmos, Iris coloboma |
ORPHA:2839 |
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
|
Hyperactivity, Aggressive behavior |
ORPHA:85327 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Corneal opacity, Polycoria, Developmental cataract, Hypoplasia of the iris, Microcornea, Ectopia ... |
OMIM:175780 |
Solitary Median Maxillary Central Incisor |
|
Microphthalmia, Anophthalmia |
OMIM:147250 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Microphthalmia |
OMIM:300863 |
Cohen Syndrome |
|
Abnormality of retinal pigmentation, Chorioretinal dystrophy, Abnormality of skin pigmentation, M... |
ORPHA:193 |
Trisomy 18 |
|
Abnormality of retinal pigmentation, Cataract, Microcornea, Microphthalmia, Iris coloboma |
ORPHA:3380 |
Curry-Jones Syndrome |
|
Microphthalmia, Iris coloboma |
OMIM:601707 |
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Microphthalmia, Cafe-au-lait spot, Corneal opacity |
ORPHA:364577 |
Manitoba Oculotrichoanal Syndrome |
|
Microphthalmia, Anophthalmia |
OMIM:248450 |
Joubert Syndrome 37 |
|
Microphthalmia |
OMIM:619185 |
Bosma Arhinia Microphthalmia Syndrome |
|
Microphthalmia, Cataract |
OMIM:603457 |
Hydrolethalus |
|
Microphthalmia, Anophthalmia |
ORPHA:2189 |
Basal Cell Nevus Syndrome 1 |
|
Microphthalmia, Cataract, Iris coloboma |
OMIM:109400 |
Proboscis Lateralis |
|
Anophthalmia, Corneal opacity, Optic nerve hypoplasia, Cataract, Microcornea, Chorioretinal colob... |
ORPHA:141099 |
Monosomy 9Q22.3 |
|
Microphthalmia, Cataract |
ORPHA:77301 |
Rothmund-Thomson Syndrome, Type 2 |
|
Cataract, Microcornea, Premature graying of hair, Microphthalmia, Zonular cataract |
OMIM:268400 |
Oculodentodigital Dysplasia |
|
Microcornea, Microphthalmia, Cataract, Uveitis |
OMIM:164200 |
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Microphthalmia, Cataract |
ORPHA:306542 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Microcornea, Microphthalmia, Developmental cataract |
ORPHA:464738 |
Tetraamelia Syndrome 1 |
|
Microphthalmia, Cataract |
OMIM:273395 |
Jacobsen Syndrome |
|
Microcornea, Macular hypoplasia, Chorioretinal coloboma, Microphthalmia, Iris coloboma |
OMIM:147791 |
Monosomy 18P |
|
Microphthalmia |
ORPHA:1598 |
Cat Eye Syndrome |
|
Microphthalmia, Iris coloboma, Chorioretinal coloboma |
OMIM:115470 |
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
Bilateral microphthalmos, Optic nerve hypoplasia |
OMIM:607597 |
Stevenson-Carey Syndrome |
|
Microphthalmia |
OMIM:611961 |
Meckel Syndrome, Type 2 |
|
Microphthalmia |
OMIM:603194 |
Fanconi Anemia, Complementation Group S |
|
Microphthalmia |
OMIM:617883 |
Microcephaly 20, Primary, Autosomal Recessive |
|
Microphthalmia, Optic nerve hypoplasia |
OMIM:617914 |
Hallermann-Streiff Syndrome |
|
Microphthalmia, Cataract, Iris coloboma, Chorioretinal coloboma |
OMIM:234100 |
Matthew-Wood Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2470 |
Myoclonic-Astatic Epilepsy |
|
Microphthalmia |
ORPHA:1942 |
Mend Syndrome |
|
Microphthalmia, Cataract, Spotty hypopigmentation |
ORPHA:401973 |
Fanconi Anemia, Complementation Group R |
|
Microphthalmia |
OMIM:617244 |
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Microphthalmia |
OMIM:618494 |
Primrose Syndrome |
|
Posterior polar cataract |
OMIM:259050 |
Moebius Syndrome |
|
Microphthalmia |
OMIM:157900 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Microphthalmia |
ORPHA:163966 |
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Microphthalmia |
ORPHA:228390 |
Fryns Syndrome |
|
Microphthalmia, Corneal opacity |
ORPHA:2059 |
Mosaic Variegated Aneuploidy Syndrome |
|
Cataract, Corneal opacity, Abnormality of skin pigmentation, Multiple cafe-au-lait spots, Microph... |
ORPHA:1052 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Cataract, Buphthalmos, Hypoplasia of the retina, Opacification of the corneal stroma, Microphthal... |
OMIM:253280 |
Mosaic Trisomy 1 |
|
Microphthalmia, Opacification of the corneal stroma |
ORPHA:1692 |
Premature Aging Syndrome, Penttinen Type |
|
Corneal stromal edema, Microphthalmia, Corneal opacity |
OMIM:601812 |
Hallermann-Streiff Syndrome |
|
Microphthalmia, Uveitis, Developmental cataract |
ORPHA:2108 |
Mosaic Trisomy 9 |
|
Microphthalmia, Corneal opacity |
ORPHA:99776 |
Dubowitz Syndrome |
|
Hypoplasia of the iris, Microphthalmia, Megalocornea, Iris coloboma |
OMIM:223370 |
Autosomal Dominant Kenny-Caffey Syndrome |
|
Bilateral microphthalmos, Developmental cataract |
ORPHA:93325 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Abnormality of retinal pigmentation, Anophthalmia, Cataract, Chorioretinal dysplasia, Microphthalmia |
ORPHA:2526 |
Cousin Syndrome |
|
Microcornea, Microphthalmia |
OMIM:260660 |
Meckel Syndrome, Type 4 |
|
Microphthalmia |
OMIM:611134 |
Ritscher-Schinzel Syndrome 3 |
|
Microphthalmia, Chorioretinal coloboma |
OMIM:619135 |
Cockayne Syndrome Type 3 |
|
Cataract, Microcornea, Premature graying of hair, Keratoconjunctivitis sicca, Lentiglobus, Microp... |
ORPHA:90324 |
Cockayne Syndrome B |
|
Developmental cataract, Hypoplasia of the iris, Microcornea, Abnormality of skin pigmentation, Pi... |
OMIM:133540 |
Microphthalmia With Limb Anomalies |
|
Microphthalmia, Anophthalmia |
OMIM:206920 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Microphthalmia |
ORPHA:404440 |
Fetal Alcohol Syndrome |
|
Microphthalmia |
ORPHA:1915 |
Treacher-Collins Syndrome |
|
Microphthalmia, Cataract, Iris coloboma |
ORPHA:861 |
Heart And Brain Malformation Syndrome |
|
Microphthalmia |
OMIM:616920 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Microphthalmia, Iris coloboma |
ORPHA:3186 |
2Q31.1 Microdeletion Syndrome |
|
Microphthalmia, Iris coloboma |
ORPHA:251014 |
Aicardi Syndrome |
|
Microphthalmia, Cataract, Chorioretinal lacunae |
OMIM:304050 |
Chromosome 13Q14 Deletion Syndrome |
|
Microphthalmia, Iris coloboma, Chorioretinal coloboma |
OMIM:613884 |
3P25.3 Microdeletion Syndrome |
|
Microphthalmia |
ORPHA:435638 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Abnormality of retinal pigmentation, Anophthalmia, Corneal opacity, Chorioretinal dysplasia, Scle... |
ORPHA:2556 |
Marden-Walker Syndrome |
|
Microphthalmia |
OMIM:248700 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
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Microphthalmia, Cataract |
OMIM:620005 |
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
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Microphthalmia |
ORPHA:2728 |
Roberts Syndrome |
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Microphthalmia, Cataract |
ORPHA:3103 |
Trichothiodystrophy |
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Bilateral microphthalmos, Developmental cataract, Microcornea, Keratoconjunctivitis sicca, Astigm... |
ORPHA:33364 |
Joubert Syndrome 14 |
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Microphthalmia |
OMIM:614424 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
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Microphthalmia |
OMIM:241410 |
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies |
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Microphthalmia |
OMIM:620098 |
Cockayne Syndrome |
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Abnormality of retinal pigmentation, Cataract, Band keratopathy, Developmental cataract, Pigmenta... |
ORPHA:191 |
Chromosome 1Q41-Q42 Deletion Syndrome |
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Microphthalmia |
OMIM:612530 |
Bartsocas-Papas Syndrome 1 |
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Popliteal pterygium, Opacification of the corneal stroma, Microphthalmia, Pterygium, Corneal ulce... |
OMIM:263650 |
Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
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Microphthalmia, Cafe-au-lait spot, Corneal opacity |
OMIM:608670 |
Fanconi Anemia |
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Cataract, Hypopigmented skin patches, Aplasia/Hypoplasia of the iris, Abnormality of skin pigment... |
ORPHA:84 |
Cerebrooculofacioskeletal Syndrome 4 |
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Bilateral microphthalmos |
OMIM:610758 |
Microphthalmia, Syndromic 2 |
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Anophthalmia, Phthisis bulbi, Developmental cataract, Microcornea, Microphthalmia, Iris coloboma |
OMIM:300166 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
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Multiple cafe-au-lait spots, Microphthalmia, Peters anomaly |
OMIM:616975 |
Holoprosencephaly |
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Microphthalmia, Anophthalmia, Iris coloboma, Chorioretinal coloboma |
ORPHA:2162 |
Oculocerebrorenal Syndrome Of Lowe |
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Cataract, Corneal opacity, Chorioretinal dysplasia, Abnormal pupil morphology, Buphthalmos, Lenti... |
ORPHA:534 |
Lowe Oculocerebrorenal Syndrome |
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Microphthalmia, Dense posterior cortical cataract, Corneal scarring, Developmental cataract |
OMIM:309000 |
Chromosome 13Q33-Q34 Deletion Syndrome |
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Microphthalmia, Cafe-au-lait spot |
OMIM:619148 |
Holoprosencephaly 7 |
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Microphthalmia, Bilateral microphthalmos, Iris coloboma |
OMIM:610828 |
Isolated Arrhinia |
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Microphthalmia |
ORPHA:1134 |
Skin Creases, Congenital Symmetric Circumferential, 2 |
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Microcornea, Microphthalmia |
OMIM:616734 |
Myhre Syndrome |
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Microphthalmia, Cataract |
OMIM:139210 |
Joubert Syndrome 2 |
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Microphthalmia, Chorioretinal coloboma |
OMIM:608091 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
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Microphthalmia, Iris coloboma, Optic nerve hypoplasia |
ORPHA:508498 |
Fanconi Anemia, Complementation Group F |
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Microphthalmia, Cafe-au-lait spot, Hyperpigmentation of the skin |
OMIM:603467 |
Microcephaly-Micromelia Syndrome |
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Microphthalmia |
OMIM:251230 |
Mowat-Wilson Syndrome |
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Cataract, Microcornea, Ectopia pupillae, Chorioretinal coloboma, Microphthalmia, Iris coloboma |
OMIM:235730 |
Focal Dermal Hypoplasia |
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Linear hyperpigmentation, Anophthalmia, Ectopia lentis, Reticular hyperpigmentation, Chorioretina... |
OMIM:305600 |
Renpenning Syndrome 1 |
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Microphthalmia, Cataract |
OMIM:309500 |
Fanconi Anemia, Complementation Group E |
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Microphthalmia, Cafe-au-lait spot, Hyperpigmentation of the skin |
OMIM:600901 |
Nail-Patella Syndrome |
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Antecubital pterygium, Abnormal iris pigmentation, Primary congenital glaucoma, Lester's sign |
ORPHA:2614 |
Frontonasal Dysplasia 2 |
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Microphthalmia |
OMIM:613451 |
Fanconi Anemia, Complementation Group A |
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Abnormality of skin pigmentation, Microphthalmia, Cafe-au-lait spot |
OMIM:227650 |
Momo Syndrome |
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Bilateral microphthalmos, Chorioretinal coloboma |
ORPHA:2563 |
Pseudotrisomy 13 Syndrome |
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Microphthalmia |
OMIM:264480 |
Ohdo Syndrome, X-Linked |
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Microphthalmia, Cafe-au-lait spot |
OMIM:300895 |
Galloway-Mowat Syndrome 3 |
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Microphthalmia |
OMIM:617729 |
Fryns Syndrome |
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Microphthalmia, Opacification of the corneal stroma |
OMIM:229850 |
22Q11.2 Deletion Syndrome |
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Cataract, Hypopigmented skin patches, Microphthalmia, Posterior embryotoxon, Corneal neovasculari... |
ORPHA:567 |
Meckel Syndrome 14 |
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Microphthalmia |
OMIM:619879 |
Neu-Laxova Syndrome 1 |
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Microphthalmia, Pterygium, Cataract |
OMIM:256520 |
Fanconi Anemia, Complementation Group C |
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Microphthalmia, Cafe-au-lait spot, Hyperpigmentation of the skin |
OMIM:227645 |
Yunis-Varon Syndrome |
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Microphthalmia, Bilateral microphthalmos, Sclerocornea, Cataract |
ORPHA:3472 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
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Microphthalmia, Cataract, Sutural cataract, Nuclear pulverulent cataract |
OMIM:612474 |
Holoprosencephaly 2 |
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Microphthalmia, Iris coloboma, Chorioretinal coloboma |
OMIM:157170 |
Aicardi Syndrome |
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Abnormality of skin pigmentation, Microphthalmia, Abnormality of retinal pigmentation, Chorioreti... |
ORPHA:50 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
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Microphthalmia, Iris coloboma |
OMIM:620186 |
Townes-Brocks Syndrome |
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Cataract, Chorioretinal coloboma, Limbal dermoid, Microphthalmia, Iris coloboma |
ORPHA:857 |
Meckel Syndrome, Type 1 |
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Microphthalmia, Iris coloboma |
OMIM:249000 |
Teebi-Shaltout Syndrome |
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Microphthalmia |
OMIM:272950 |
Charge Syndrome |
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Microphthalmia, Anophthalmia, Iris coloboma, Chorioretinal coloboma |
ORPHA:138 |
Branchiooculofacial Syndrome |
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Anophthalmia, Cataract, Premature graying of hair, White forelock, Microphthalmia, Iris coloboma |
OMIM:113620 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
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Popliteal pterygium, Microphthalmia, Antecubital pterygium |
OMIM:609945 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
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Microphthalmia |
OMIM:616300 |
Fanconi Anemia, Complementation Group D2 |
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Abnormality of skin pigmentation, Microphthalmia, Cafe-au-lait spot |
OMIM:227646 |
Microphthalmia, Syndromic 6 |
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Microcornea, Microphthalmia, Anophthalmia, Sclerocornea |
OMIM:607932 |
Fanconi Anemia, Complementation Group L |
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Microphthalmia, Cafe-au-lait spot |
OMIM:614083 |
Pallister-Hall Syndrome |
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Microphthalmia |
OMIM:146510 |
Witteveen-Kolk Syndrome |
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Anisocoria, Microphthalmia, Cataract, Iris coloboma |
OMIM:613406 |
Fraser Syndrome 2 |
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Microphthalmia |
OMIM:617666 |
Holoprosencephaly 9 |
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Microphthalmia, Anophthalmia, Optic nerve hypoplasia |
OMIM:610829 |
Microphthalmia, Syndromic 9 |
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Anophthalmia, Bilateral microphthalmos |
OMIM:601186 |
Charge Syndrome |
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Anophthalmia, Cataract, Unilateral microphthalmos, Microphthalmia, Iris coloboma |
OMIM:214800 |
Microgastria-Limb Reduction Defect Syndrome |
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Microphthalmia, Anophthalmia |
ORPHA:2538 |
Fraser Syndrome 1 |
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Anophthalmia, Corneal opacity, Bilateral microphthalmos |
OMIM:219000 |
Holoprosencephaly-Postaxial Polydactyly Syndrome |
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Microphthalmia |
ORPHA:2166 |
Roberts-Sc Phocomelia Syndrome |
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Cataract, Corneal opacity, Opacification of the corneal stroma, Microphthalmia, Cafe-au-lait spot |
OMIM:268300 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
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Microphthalmia |
OMIM:617925 |
Microphthalmia With Limb Anomalies |
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Microphthalmia, True anophthalmia |
ORPHA:1106 |
Microphthalmia, Syndromic 1 |
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Anophthalmia, Microcornea, Ciliary body coloboma, Chorioretinal coloboma, Microphthalmia, Iris co... |
OMIM:309800 |
Monosomy 9P |
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Microphthalmia |
ORPHA:261112 |
Degcags Syndrome |
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Hypopigmentation of hair, Abnormality of skin pigmentation, Premature graying of hair, Microphtha... |
OMIM:619488 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
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Iris atrophy, Cataract, Abnormal pupil morphology, Microcornea, Ectopia pupillae, Astigmatism, Ax... |
ORPHA:261552 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
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Bilateral microphthalmos, Optic nerve hypoplasia |
ORPHA:468631 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
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Cataract, Astigmatism, Axenfeld anomaly, Microphthalmia, Iris coloboma |
ORPHA:261537 |
Fontaine Progeroid Syndrome |
|
Microphthalmia |
OMIM:612289 |
Adams-Oliver Syndrome 1 |
|
Microphthalmia |
OMIM:100300 |
Mowat-Wilson Syndrome |
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Cataract, Astigmatism, Axenfeld anomaly, Microphthalmia, Iris coloboma |
ORPHA:2152 |
Holoprosencephaly 1 |
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Microphthalmia |
OMIM:236100 |
Fraser Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2052 |
Treacher Collins Syndrome 1 |
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Bilateral microphthalmos |
OMIM:154500 |
Hydrolethalus Syndrome 1 |
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Microphthalmia |
OMIM:236680 |
Craniofacial Microsomia 1 |
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Limbal dermoid, Microphthalmia, Anophthalmia |
OMIM:164210 |
Pallister-Hall Syndrome |
|
Microphthalmia |
ORPHA:672 |
8Q24.3 Microdeletion Syndrome |
|
Bilateral microphthalmos, Optic nerve hypoplasia |
ORPHA:508488 |
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures |
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OMIM:620224 |