Microphthalmia/Coloboma 10 |
|
Iris coloboma, Microcoria, Anophthalmia, Microphthalmia |
OMIM:616428 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 3 |
|
Hepatomegaly, Cataract |
ORPHA:79281 |
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Anophthalmia, Microphthalmia |
ORPHA:85275 |
Microphthalmia/Coloboma 5 |
|
Iris coloboma, Anophthalmia, Bilateral microphthalmos, Microphthalmia |
OMIM:611638 |
Microphthalmia, Isolated 1 |
|
Anophthalmia, Microphthalmia |
OMIM:251600 |
Galactosemia Iv |
|
Hepatomegaly, Cataract, Prolonged neonatal jaundice |
OMIM:618881 |
Microphthalmia, Isolated, With Cataract 1 |
|
Cataract, Microphthalmia |
OMIM:156850 |
Microphthalmia, Syndromic 16 |
|
Sclerocornea, Anophthalmia, Microphthalmia |
OMIM:611038 |
Microphthalmia, Isolated 8 |
|
Retinal coloboma, True anophthalmia, Anophthalmia, Retinal detachment, Microphthalmia, Optic nerv... |
OMIM:615113 |
Cataract 9, Multiple Types |
|
Cataract, Microcornea, Progressive cataract, Developmental cataract, Microphthalmia, Iris coloboma |
OMIM:604219 |
Corneal Dystrophy, Groenouw Type I |
|
Cataract, Punctate corneal dystrophy, Nodular corneal dystrophy, Granular corneal dystrophy |
OMIM:121900 |
Cataract 11, Multiple Types |
|
Cataract, Developmental cataract, Microphthalmia |
OMIM:610623 |
Microphthalmia/Coloboma 3 |
|
Cataract, Iris coloboma, Microphthalmia |
OMIM:610092 |
Cataract 42 |
|
Cataract, Developmental cataract |
OMIM:115900 |
Galactosemia Ii |
|
Prolonged neonatal jaundice, Cataract |
OMIM:230200 |
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Microcornea, Remnants of the hyaloid vascular system, Microphthalmia, Posterior lenticonus, Iris ... |
ORPHA:231736 |
Anterior Segment Dysgenesis 8 |
|
Cataract, Ectopia lentis, Ectopia pupillae, Hypoplasia of the iris, Uveal ectropion, Optic nerve ... |
OMIM:617319 |
Microphthalmia, Syndromic 12 |
|
Anophthalmia, Microphthalmia |
OMIM:615524 |
Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Hepatomegaly, Cataract, Jaundice, Elevated circulating aspartate aminotransferase concentration |
OMIM:614876 |
Microphthalmia With Brain And Digit Anomalies |
|
Cataract, Microcornea, Anophthalmia, Microphthalmia, Sclerocornea, Iris coloboma |
ORPHA:139471 |
Cataract-Microcornea Syndrome |
|
Cataract, Microcornea, Corneal opacity, Iris coloboma, Corneal dystrophy |
ORPHA:1377 |
Microphthalmia, Isolated 5 |
|
Cataract, Optic disc drusen, Optic disc pallor, Bone spicule pigmentation of the retina, Micropht... |
OMIM:611040 |
Iris Pigment Layer, Cleavage Of |
|
Cataract, Peripheral retinal detachment |
OMIM:147610 |
Microphthalmia, Syndromic 5 |
|
Cataract, Microcornea, Anophthalmia, Microphthalmia, Optic nerve hypoplasia |
OMIM:610125 |
Megalocornea |
|
Cataract, Deep anterior chamber, Megalocornea, Lens subluxation, Astigmatism, Iridodonesis, Retin... |
OMIM:309300 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Cataract, Optic atrophy, Posterior embryotoxon, Retinal detachment, Corneal opacity, Microphthalm... |
ORPHA:1473 |
Fryns Microphthalmia Syndrome |
|
Anophthalmia, Microphthalmia |
OMIM:600776 |
Coats Disease |
|
Cataract, Retinal detachment, Abnormal anterior chamber morphology, Aplasia/Hypoplasia of the iris |
ORPHA:190 |
Walker-Warburg Syndrome |
|
Cataract, Microcornea, Optic atrophy, Anophthalmia, Retinal detachment, Corneal opacity, Micropht... |
ORPHA:899 |
Cataract 50 With Or Without Glaucoma |
|
Cataract, Persistent pupillary membrane, Retinal detachment |
OMIM:620253 |
Trisomy 13 |
|
Cataract, Optic atrophy, Aplasia/Hypoplasia of the iris, Anophthalmia, Microphthalmia, Iris coloboma |
ORPHA:3378 |
Oculocerebrocutaneous Syndrome |
|
Anophthalmia, Microphthalmia |
OMIM:164180 |
Galactose Epimerase Deficiency |
|
Hepatomegaly, Cataract, Jaundice, Splenomegaly |
ORPHA:79238 |
Galactose Mutarotase Deficiency |
|
Cholestasis, Cataract, Decreased liver function, Hepatomegaly |
ORPHA:570422 |
Persistent Hyperplastic Primary Vitreous |
|
Cataract, Microcornea, Hyaloid vascular remnant and retrolental mass, Persistent pupillary membra... |
ORPHA:91495 |
Autosomal Dominant Keratitis |
|
Cataract, Microcornea, Keratitis, Bilateral microphthalmos, Abnormal corneal limbus morphology, A... |
ORPHA:2334 |
Anencephaly 2 |
|
Anophthalmia |
OMIM:619452 |
Cockayne Syndrome Type 2 |
|
Hepatomegaly, Conjunctivitis, Anophthalmia, Developmental cataract |
ORPHA:90322 |
Meckel Syndrome, Type 8 |
|
Anophthalmia, Microphthalmia |
OMIM:613885 |
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Anophthalmia |
ORPHA:411986 |
Anterior Segment Dysgenesis 7 |
|
Cataract, Microcornea, Sclerocornea, Corneal opacity, Ocular anterior segment dysgenesis, Anterio... |
OMIM:269400 |
Aniridia 2 |
|
Cataract, Optic atrophy, Aniridia, Lens subluxation, Iris coloboma |
OMIM:617141 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Hepatomegaly, Cataract, Optic disc pallor, Microphthalmia |
OMIM:613730 |
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Cataract, Iris coloboma, Microphthalmia |
OMIM:120433 |
Leber Congenital Amaurosis 1 |
|
Keratoconus, Pigmentary retinopathy, Cataract, Optic disc drusen, Hepatomegaly |
OMIM:204000 |
Aniridia-Intellectual Disability Syndrome |
|
Cataract, Aniridia, Ectopia lentis, Optic nerve hypoplasia |
ORPHA:1068 |
Anophthalmia Plus Syndrome |
|
Iris coloboma, Anophthalmia |
ORPHA:1104 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Cataract, Microcornea, Retinal nonattachment, Posterior synechiae of the anterior chamber, Persis... |
OMIM:221900 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Cataract, Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Pancrea... |
OMIM:618805 |
Congenital Varicella Syndrome |
|
Cataract, Microphthalmia |
ORPHA:291 |
Matthew-Wood Syndrome |
|
Annular pancreas, Anophthalmia, Abnormal spleen morphology, Microphthalmia, Aplasia/Hypoplasia of... |
ORPHA:2470 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Cataract, Microcornea, Ectopia pupillae, Anophthalmia, Microphthalmia, Sclerocornea |
OMIM:615877 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Sclerocornea, Iris coloboma, Anophthalmia, Microphthalmia |
ORPHA:77298 |
Myopia, High, With Cataract And Vitreoretinal Degeneration |
|
Lens subluxation, Cataract, Retinal detachment, Lattice retinal degeneration |
OMIM:614292 |
Thanatophoric Dysplasia, Glasgow Variant |
|
Cataract, Hepatosplenomegaly |
OMIM:273680 |
Microphthalmia/Coloboma 12 |
|
Peters anomaly, Optic disc coloboma, Optic nerve aplasia, Remnants of the hyaloid vascular system... |
OMIM:120200 |
Cockayne Syndrome Type 1 |
|
Cataract, Optic atrophy, Elevated circulating hepatic transaminase concentration, Pigmentary reti... |
ORPHA:90321 |
Meckel Syndrome |
|
Accessory spleen, Cataract, Microcornea, Optic atrophy, Aplasia/Hypoplasia of the iris, Anophthal... |
ORPHA:564 |
Exfoliation Syndrome |
|
Cataract, Mydriasis, Pseudoexfoliation, Abnormal lens morphology, Phakodonesis, Pigment depositio... |
OMIM:177650 |
Stickler Syndrome Type 2 |
|
Cataract, Retinal detachment, Corneal opacity |
ORPHA:90654 |
Congenital Rubella Syndrome |
|
Cataract, Microphthalmia, Aplasia/Hypoplasia of the iris, Splenomegaly, Abnormality of retinal pi... |
ORPHA:290 |
Anterior Segment Dysgenesis 2 |
|
Cataract, Microcornea, Peters anomaly, Posterior synechiae of the anterior chamber, Aniridia, Con... |
OMIM:610256 |
Norrie Disease |
|
Cataract, Optic atrophy, Hypoplasia of the iris, Opacification of the corneal stroma, Leukocoria,... |
OMIM:310600 |
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Cataract, Corneal scarring, Macular atrophy, Retinal detachment, Microphthalmia, Buphthalmos, Iri... |
OMIM:212550 |
Ectopia Lentis Et Pupillae |
|
Cataract, Ectopia lentis, Ectopia pupillae, Retinal detachment, Iris transillumination defect, Pe... |
OMIM:225200 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Cataract, Persistent pupillary membrane, Aplasia/Hypoplasia of the iris, Corneal opacity |
ORPHA:1067 |
Retinitis Pigmentosa 84 |
|
Cataract, Bone spicule pigmentation of the retina, Macular coloboma, Macular atrophy |
OMIM:618220 |
Oculopalatocerebral Syndrome |
|
Leukocoria, Remnants of the hyaloid vascular system, Microphthalmia |
OMIM:257910 |
Myopia 28, Autosomal Recessive |
|
Cataract, Retinal detachment |
OMIM:619781 |
Blindness-Scoliosis-Arachnodactyly Syndrome |
|
Cataract, Abnormality of retinal pigmentation, Retinal detachment, Lens subluxation, Microphakia |
ORPHA:171844 |
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract |
|
Cataract, Aniridia, Microcornea |
OMIM:106230 |
Isolated Aniridia |
|
Cataract, Aniridia, Peters anomaly, Aplasia/Hypoplasia of the macula |
ORPHA:250923 |
Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome |
|
Cataract, Retinal coloboma, Microphthalmia |
OMIM:601794 |
Hydrolethalus |
|
Anophthalmia, Microphthalmia |
ORPHA:2189 |
Cerebrooculonasal Syndrome |
|
Anophthalmia |
ORPHA:66625 |
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Cataract, Retinal coloboma, Microphthalmia |
ORPHA:363741 |
Vitreoretinal Degeneration, Snowflake Type |
|
Corneal guttata, Cataract, Retinal detachment, Snowflake vitreoretinal degeneration |
OMIM:193230 |
Solitary Median Maxillary Central Incisor |
|
Anophthalmia, Microphthalmia |
OMIM:147250 |
Microphthalmia With Limb Anomalies |
|
Anophthalmia, Microphthalmia |
OMIM:206920 |
Microphthalmia, Syndromic 3 |
|
Cataract, Optic nerve aplasia, Anophthalmia, Microphthalmia, Sclerocornea, Optic nerve hypoplasia |
OMIM:206900 |
Manitoba Oculotrichoanal Syndrome |
|
Corneopalpebral synechiae, Anophthalmia, Microphthalmia |
OMIM:248450 |
Reese Retinal Dysplasia |
|
Retinal dysplasia, Remnants of the hyaloid vascular system |
OMIM:266400 |
Morning Glory Disc Anomaly |
|
Cataract, Retinal detachment, Abnormality of retinal pigmentation, Optic disc coloboma |
ORPHA:35737 |
Trisomy 1Q |
|
Anophthalmia |
ORPHA:261344 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Cataract, Iris coloboma, Anophthalmia, Microphthalmia |
ORPHA:2250 |
Oculotrichoanal Syndrome |
|
Anophthalmia, Microphthalmia |
ORPHA:2717 |
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
|
Aniridia, Corneal dystrophy, Anophthalmia, Megalocornea |
ORPHA:1101 |
Cataract 47 |
|
Cataract, Microcornea |
OMIM:612018 |
Coloboma, Ocular, Autosomal Recessive |
|
Cataract, Optic disc coloboma, Retinal coloboma, Lens subluxation, Iris coloboma |
OMIM:216820 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Cataract, Optic atrophy, Anophthalmia, Abnormality of retinal pigmentation, Retinal detachment, M... |
ORPHA:2526 |
Pierson Syndrome |
|
Cataract, Hypoplasia of the iris, Rieger anomaly, Uveal ectropion, Macular hypoplasia, Hypoplasia... |
OMIM:609049 |
Cataract 10, Multiple Types |
|
Posterior Y-sutural cataract, Developmental cataract, Nuclear cataract, Zonular cataract |
OMIM:600881 |
Microphthalmia, Syndromic 9 |
|
Multilobulated spleen, Hypoplastic spleen, Anophthalmia, Bilateral microphthalmos |
OMIM:601186 |
Oculo-Palato-Cerebral Syndrome |
|
Cataract, Leukocoria, Retinal detachment, Remnants of the hyaloid vascular system, Microphthalmia |
ORPHA:2714 |
Aniridia 1 |
|
Cataract, Ectopia lentis, Hypoplasia of the iris, Ectopia pupillae, Aniridia, Corneal neovascular... |
OMIM:106210 |
Amoebic Keratitis |
|
Cataract, Corneal perforation, Abnormal cornea morphology, Punctate opacification of the cornea, ... |
ORPHA:67043 |
Vacterl With Hydrocephalus |
|
Microcornea, Anophthalmia, Microphthalmia |
ORPHA:3412 |
Holoprosencephaly |
|
Optic atrophy, Abnormality of the spleen, Anophthalmia, Microphthalmia, Iris coloboma |
ORPHA:2162 |
Optic Nerve Hypoplasia, Bilateral |
|
Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia |
OMIM:165550 |
Oculoauricular Syndrome |
|
Cataract, Microcornea, Posterior synechiae of the anterior chamber, Retinal coloboma, Iris cyst, ... |
OMIM:612109 |
Aniridia 3 |
|
Cataract, Aniridia |
OMIM:617142 |
Fibular Hemimelia |
|
Abnormal anterior chamber morphology, Anophthalmia |
ORPHA:93323 |
Proboscis Lateralis |
|
Cataract, Microcornea, Optic disc coloboma, Anophthalmia, Corneal opacity, Microphthalmia, Iris c... |
ORPHA:141099 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Cataract, Peters anomaly, Retinal detachment, Remnants of the hyaloid vascular system, Microphtha... |
OMIM:614643 |
Microgastria-Limb Reduction Defect Syndrome |
|
Hepatomegaly, Abnormality of the spleen, Anophthalmia, Microphthalmia |
ORPHA:2538 |
Cerebrooculonasal Syndrome |
|
Iris coloboma, Anophthalmia, Optic nerve hypoplasia |
OMIM:605627 |
Aniridia And Absent Patella |
|
Cataract, Aniridia |
OMIM:106220 |
Joubert Syndrome 21 |
|
Splenomegaly, Optic atrophy, Anophthalmia, Megalopapilla |
OMIM:615636 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Microphthalmia, Anophthalmia, Abnormality of retinal pigmentation, Posterior embryotoxon, Corneal... |
ORPHA:2556 |
Microphthalmia, Syndromic 2 |
|
Microcornea, Anophthalmia, Retinal detachment, Developmental cataract, Microphthalmia, Remnants o... |
OMIM:300166 |
Exudative Vitreoretinopathy 6 |
|
Cataract, Nuclear cataract, Tractional retinal detachment, Retinal detachment, Cortical cataract,... |
OMIM:616468 |
Cataract 5, Multiple Types |
|
Nuclear cataract, Pulverulent cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract |
OMIM:116800 |
14Q22Q23 Microdeletion Syndrome |
|
Optic nerve aplasia, Anophthalmia |
ORPHA:264200 |
Charge Syndrome |
|
Optic atrophy, Webbed neck, Anophthalmia, Microphthalmia, Iris coloboma |
ORPHA:138 |
Hyperferritinemia With Or Without Cataract |
|
Cataract, Nuclear cataract, Anterior subcapsular cataract, Pulverulent cataract |
OMIM:600886 |
Autoimmune Polyendocrine Syndrome, Type Ii |
|
Cataract, Band keratopathy, Hepatitis, Exocrine pancreatic insufficiency, Keratoconjunctivitis, C... |
OMIM:269200 |
Focal Dermal Hypoplasia |
|
Optic atrophy, Ectopia lentis, Aniridia, Anophthalmia, Microphthalmia, Iris coloboma |
OMIM:305600 |
Charge Syndrome |
|
Webbed neck, Cataract, Retinal coloboma, Unilateral microphthalmos, Anophthalmia, Microphthalmia,... |
OMIM:214800 |
Fraser Syndrome 1 |
|
Anophthalmia, Bilateral microphthalmos, Corneal opacity |
OMIM:219000 |
Atelis Syndrome 2 |
|
Remnants of the hyaloid vascular system, Developmental cataract, Microphthalmia |
OMIM:620185 |
Holoprosencephaly 9 |
|
Optic nerve hypoplasia, Anophthalmia, Microphthalmia |
OMIM:610829 |
Microphthalmia With Limb Anomalies |
|
Optic atrophy, True anophthalmia, Microphthalmia |
ORPHA:1106 |
Branchiooculofacial Syndrome |
|
Cataract, Retinal coloboma, Anophthalmia, Microphthalmia, Iris coloboma |
OMIM:113620 |
Norrie Disease |
|
Cataract, Optic atrophy, Ectopia lentis, Hypoplasia of the iris, Abnormal pupil morphology, Retin... |
ORPHA:649 |
Microphthalmia, Syndromic 6 |
|
Sclerocornea, Microcornea, Anophthalmia, Microphthalmia |
OMIM:607932 |
Neuroocular Syndrome 1 |
|
Cataract, Microcornea, Stellate iris, Peters anomaly, Hypoplasia of the fovea, Blue irides, Remna... |
OMIM:619539 |
Microphthalmia, Syndromic 1 |
|
Webbed neck, Microcornea, Optic disc coloboma, Ciliary body coloboma, Anophthalmia, Microphthalmi... |
OMIM:309800 |
Fraser Syndrome |
|
Anophthalmia, Microphthalmia |
ORPHA:2052 |
Full Nf2-Related Schwannomatosis |
|
Posterior subcapsular cataract, Cortical cataract, Remnants of the hyaloid vascular system |
ORPHA:637 |
Craniofacial Microsomia 1 |
|
Limbal dermoid, Anophthalmia, Microphthalmia |
OMIM:164210 |
Acromelic Frontonasal Dysostosis |
|
Remnants of the hyaloid vascular system, Optic nerve hypoplasia |
OMIM:603671 |
Holoprosencephaly 2 |
|
Iris coloboma, Remnants of the hyaloid vascular system, Microphthalmia |
OMIM:157170 |