| Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Anophthalmia, Microphthalmia |
ORPHA:85275 |
| Microphthalmia, Isolated, With Coloboma 10 |
|
Iris coloboma, Microphthalmia, Microcoria, Chorioretinal coloboma, Anophthalmia |
OMIM:616428 |
| Nanophthalmos 1 |
|
Bilateral microphthalmos |
OMIM:600165 |
| Microphthalmia, Isolated 7 |
|
Microphthalmia |
OMIM:613704 |
| Nanophthalmos 2 |
|
Microphthalmia |
OMIM:609549 |
| Microphthalmia, Isolated, With Coloboma 4 |
|
Microcornea, Microphthalmia, Coloboma |
OMIM:251505 |
| Microphthalmia, Isolated 1 |
|
Anophthalmia, Microphthalmia |
OMIM:251600 |
| Microphthalmia, Isolated, With Coloboma 5 |
|
Iris coloboma, Bilateral microphthalmos, Holoprosencephaly, Microphthalmia, Chorioretinal colobom... |
OMIM:611638 |
| Microphthalmia, Isolated, With Coloboma 3 |
|
Cataract, Iris coloboma, Microphthalmia |
OMIM:610092 |
| Microphthalmia, Isolated, With Cataract 1 |
|
Cataract, Microphthalmia |
OMIM:156850 |
| Microphthalmia, Isolated, With Coloboma 7 |
|
Inferior chorioretinal coloboma, Iris coloboma, Microphthalmia |
OMIM:614497 |
| Anterior Segment Dysgenesis 8 |
|
Cataract, Ectopia pupillae, Ectopia lentis, Iridodonesis, Microphakia, Persistent pupillary membr... |
OMIM:617319 |
| Anencephaly 2 |
|
Median cleft palate, Anencephaly, Cleft maxillary alveolar ridge, Median cleft lip, Anophthalmia |
OMIM:619452 |
| Microphthalmia, Isolated, With Coloboma 6 |
|
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia, Coloboma |
OMIM:613703 |
| Congenital Primary Aphakia |
|
Congenital aphakia, Sclerocornea, Aplasia/Hypoplasia affecting the anterior segment of the eye, M... |
ORPHA:83461 |
| Anterior Segment Dysgenesis 2 |
|
Cataract, Congenital aphakia, Anterior segment of eye aplasia, Microphthalmia, Posterior synechia... |
OMIM:610256 |
| Cataract 9, Multiple Types |
|
Cataract, Iris coloboma, Microphthalmia, Developmental cataract, Progressive cataract, Microcornea |
OMIM:604219 |
| Leber Hereditary Optic Neuropathy, Modifier Of |
|
Optic atrophy, Leber optic atrophy |
OMIM:308905 |
| Cataract 11, Multiple Types |
|
Cataract, Developmental cataract, Microphthalmia |
OMIM:610623 |
| Cataract 4, Multiple Types |
|
Developmental cataract |
OMIM:115700 |
| Cataract 13 With Adult I Phenotype |
|
Developmental cataract |
OMIM:116700 |
| Cataract 37 |
|
Developmental cataract |
OMIM:614422 |
| Cataract 45 |
|
Developmental cataract |
OMIM:616851 |
| Cataract 38 |
|
Developmental cataract |
OMIM:614691 |
| Ectopia Lentis 2, Isolated, Autosomal Recessive |
|
Ectopia lentis |
OMIM:225100 |
| Ectopia Lentis 1, Isolated, Autosomal Dominant |
|
Ectopia lentis |
OMIM:129600 |
| Microphthalmia, Syndromic 16 |
|
Sclerocornea, Anophthalmia, Microphthalmia |
OMIM:611038 |
| Microphthalmia, Isolated 2 |
|
Opacification of the corneal stroma, Microphthalmia |
OMIM:610093 |
| Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Cataract, Chorioretinal coloboma, Iris coloboma, Microphthalmia |
OMIM:120433 |
| Microphthalmia, Isolated 4 |
|
Microphthalmia, Coloboma |
OMIM:613094 |
| Microphthalmia, Isolated 8 |
|
Retinal detachment, Microphthalmia, Retinal coloboma, Optic nerve hypoplasia, True anophthalmia, ... |
OMIM:615113 |
| Premature Ovarian Failure 12 |
|
Microphthalmia |
OMIM:616947 |
| Fryns Microphthalmia Syndrome |
|
Neural tube defect, Anophthalmia, Bilateral cleft lip and palate, Microphthalmia |
OMIM:600776 |
| Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Ocular anterior segment dysgenesis, Iris coloboma, Microphthalmia, Peters anomaly, Coloboma |
OMIM:610023 |
| Blindness-Scoliosis-Arachnodactyly Syndrome |
|
Cataract, Lens subluxation, Microphakia |
ORPHA:171844 |
| Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Iris coloboma, Microphthalmia, Chorioretinal coloboma, Posterior lenticonus, Remnants of the hyal... |
ORPHA:231736 |
| Hereditary Hyperferritinemia-Cataract Syndrome |
|
Cataract |
ORPHA:163 |
| Cataract 29 |
|
Cataract |
OMIM:115800 |
| Cataract 35 |
|
Cataract |
OMIM:609376 |
| Cataract 36 |
|
Cataract |
OMIM:613887 |
| Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome |
|
Aplasia/Hypoplasia of the lens, Cataract |
ORPHA:1381 |
| Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Microcornea, Corneal opacity, Microphthalmia |
ORPHA:2432 |
| Orofacial Cleft 11 |
|
Cleft palate, Cleft lip |
OMIM:600625 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 3 |
|
Microphthalmia |
OMIM:616335 |
| Foveal Hypoplasia 2 |
|
Hypoplasia of the fovea, Astigmatism, Microphthalmia, Posterior embryotoxon, Axenfeld anomaly |
OMIM:609218 |
| Autosomal Dominant Keratitis |
|
Cataract, Hypoplasia of the fovea, Bilateral microphthalmos, Hypoplastic iris stroma, Limbal stem... |
ORPHA:2334 |
| Gombo Syndrome |
|
Microphthalmia |
OMIM:233270 |
| Microphthalmia, Syndromic 12 |
|
Microphthalmia, Cleft palate, Neonatal death, Intestinal malrotation, Anophthalmia |
OMIM:615524 |
| Anterior Segment Dysgenesis 7 |
|
Cataract, Iris coloboma, Microphthalmia, Buphthalmos, Anterior synechiae of the anterior chamber,... |
OMIM:269400 |
| Congenital Varicella Syndrome |
|
Cataract, Microphthalmia |
ORPHA:291 |
| Facial Clefting, Oblique, 1 |
|
Microphthalmia, Coloboma |
OMIM:600251 |
| Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
Microphthalmia |
OMIM:251700 |
| Oculoauricular Syndrome |
|
Cataract, Iris cyst, Iris coloboma, Microphthalmia, Microphakia, Retinal coloboma, Phthisis bulbi... |
OMIM:612109 |
| Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Developmental cataract, Coloboma, Microphthalmia, Ocular anterior segment dysgenesis |
ORPHA:324416 |
| Microphthalmia, Syndromic 13 |
|
Microcornea, Chorioretinal coloboma, Iris coloboma, Microphthalmia |
OMIM:300915 |
| Anterior Segment Dysgenesis 5 |
|
Hypoplasia of the fovea, Microphthalmia, Hypoplasia of the iris, Anterior synechiae of the anteri... |
OMIM:604229 |
| Cataract 12, Multiple Types |
|
Developmental cataract, Progressive cataract |
OMIM:611597 |
| Anophthalmia Plus Syndrome |
|
Iris coloboma, Bilateral cleft lip and palate, Spina bifida, Cleft palate, Non-midline cleft lip,... |
ORPHA:1104 |
| Weill-Marchesani Syndrome 3 |
|
Shallow anterior chamber, Ectopia lentis, Microspherophakia |
OMIM:614819 |
| Microphthalmia With Brain And Digit Anomalies |
|
Cataract, Iris coloboma, Microphthalmia, Sclerocornea, Chorioretinal coloboma, Anophthalmia, Micr... |
ORPHA:139471 |
| Retinitis Pigmentosa 36 |
|
Macular degeneration, Optic disc pallor, Bone spicule pigmentation of the retina, Attenuation of ... |
OMIM:610599 |
| Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma |
|
Ectopia lentis, Megalocornea, Iridodonesis, Microspherophakia, Buphthalmos, Deep anterior chamber |
OMIM:251750 |
| Microphthalmia, Syndromic 5 |
|
Cataract, Microphthalmia, Optic nerve hypoplasia, Anophthalmia, Microcornea, Coloboma |
OMIM:610125 |
| Leber Congenital Amaurosis 13 |
|
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... |
OMIM:612712 |
| Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Cataract, Iris coloboma, Microphthalmia, Chorioretinal coloboma, Corneal opacity, Posterior embry... |
ORPHA:1473 |
| Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract |
|
Cataract, Aniridia, Microcornea |
OMIM:106230 |
| Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Cataract, Microcornea, Microphthalmia |
ORPHA:2528 |
| Microphthalmia, Isolated 6 |
|
Microcornea, Microphthalmia |
OMIM:613517 |
| Solitary Median Maxillary Central Incisor |
|
Cyclopia, Solitary median maxillary central incisor, Decreased response to growth hormone stimula... |
OMIM:147250 |
| Nanophthalmos 4 |
|
Microphthalmia |
OMIM:615972 |
| Xeroderma Pigmentosum, Complementation Group G |
|
Cataract, Microphthalmia |
OMIM:278780 |
| Nanophthalmos |
|
Microphthalmia |
ORPHA:35612 |
| Corneal Dystrophy, Groenouw Type I |
|
Cataract, Granular corneal dystrophy, Punctate corneal dystrophy, Nodular corneal dystrophy |
OMIM:121900 |
| Aniridia-Intellectual Disability Syndrome |
|
Cataract, Aniridia, Ectopia lentis, Optic nerve hypoplasia |
ORPHA:1068 |
| 2Q24 Microdeletion Syndrome |
|
Cataract, Abnormality iris morphology, Microphthalmia, Coloboma |
ORPHA:1617 |
| Meckel Syndrome, Type 8 |
|
Encephalocele, Occipital encephalocele, Microphthalmia, Cleft palate, Cleft upper lip, Anophthalmia |
OMIM:613885 |
| Cataract-Microcornea Syndrome |
|
Cataract, Iris coloboma, Corneal dystrophy, Corneal opacity, Microcornea |
ORPHA:1377 |
| Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Cataract, Retinal coloboma, Microphthalmia |
OMIM:601794 |
| Cornea Plana 2, Autosomal Recessive |
|
Decreased corneal thickness, Microphthalmia, Corneal arcus, Sclerocornea, Corneal opacity, Flat c... |
OMIM:217300 |
| Spondylo-Ocular Syndrome |
|
Aplasia/Hypoplasia of the lens, Cataract, Iris hypopigmentation, Microphthalmia |
ORPHA:85194 |
| Oculocerebrocutaneous Syndrome |
|
Orbital encephalocele, Anophthalmia, Microphthalmia, Cleft palate |
OMIM:164180 |
| Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Cataract, Retinal coloboma, Microphthalmia |
ORPHA:363741 |
| Pupillary Membrane, Persistence Of |
|
Megalocornea, Developmental cataract, Persistent pupillary membrane |
OMIM:178900 |
| Isolated Aniridia |
|
Cataract, Aniridia, Aplasia/Hypoplasia of the macula, Peters anomaly |
ORPHA:250923 |
| Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Microphthalmia |
ORPHA:1574 |
| Hydrolethalus |
|
Bifid uvula, Unilateral cleft lip, Hydrocephalus, Submucous cleft hard palate, Microphthalmia, Cl... |
ORPHA:2189 |
| Obsolete: Isolated Optic Nerve Hypoplasia/Aplasia |
|
Optic disc hypoplasia, Optic nerve hypoplasia, Unilateral microphthalmos, Chorioretinal coloboma,... |
ORPHA:137902 |
| Blepharoptosis, Myopia, And Ectopia Lentis |
|
Ectopia lentis, Increased axial length of the globe |
OMIM:110150 |
| Aniridia 2 |
|
Cataract, Lens subluxation, Aniridia, Iris coloboma |
OMIM:617141 |
| Retinitis Pigmentosa 71 |
|
Optic disc pallor, Attenuation of retinal blood vessels, Perifoveal ring of hyperautofluorescence... |
OMIM:616394 |
| Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Cataract, Iris coloboma, Corneal scarring, Microphthalmia, Buphthalmos, Chorioretinal coloboma |
OMIM:212550 |
| Biemond Syndrome Type 2 |
|
Microphthalmia, Coloboma |
ORPHA:141333 |
| Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Cataract, Ectopia pupillae, Microphthalmia, Sclerocornea, Anophthalmia, Microcornea, Coloboma |
OMIM:615877 |
| Cataract 21, Multiple Types |
|
Cerulean cataract, Cortical pulverulent cataract, Peters anomaly, Iris coloboma, Corneal opacity,... |
OMIM:610202 |
| Dihydropyrimidine Dehydrogenase Deficiency |
|
Microphthalmia, Coloboma |
OMIM:274270 |
| Microphthalmia, Isolated, With Corectopia |
|
Ectopia pupillae, Microphthalmia |
OMIM:156900 |
| Omphalocele-Cleft Palate Syndrome, Lethal |
|
Death in infancy, Hydrocephalus, Bifid uvula, Cleft palate |
OMIM:258320 |
| Duplication Of The Pituitary Gland |
|
Encephalocele, Abnormality of the pituitary gland, Abnormal hypothalamus morphology, Volvulus, Ab... |
ORPHA:314621 |
| Coloboma, Ocular, Autosomal Dominant |
|
Optic nerve aplasia, Microphthalmia, Chorioretinal coloboma, Corneal opacity, Optic disc coloboma... |
OMIM:120200 |
| Otodental Syndrome |
|
Lens coloboma, Cataract, Iris coloboma, Microphthalmia, Retinal coloboma, Microcornea |
ORPHA:2791 |
| Glaucoma 3, Primary Congenital, D |
|
Primary congenital glaucoma, Ectopia lentis, Corneal opacity |
OMIM:613086 |
| Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma |
|
Shallow anterior chamber, Microphthalmia |
OMIM:267760 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Neural tube defect |
OMIM:615041 |
| Microphthalmia, Isolated 5 |
|
Cataract, Microphthalmia |
OMIM:611040 |
| Cat-Eye Syndrome |
|
Chorioretinal coloboma, Iris coloboma, Microphthalmia |
ORPHA:195 |
| Walker-Warburg Syndrome |
|
Abnormal cortical gyration, Polymicrogyria, Macrogyria, Iris coloboma, Bifid uvula, Hydrocephalus... |
ORPHA:899 |
| Coats Disease |
|
Aplasia/Hypoplasia of the iris, Cataract, Abnormal anterior chamber morphology |
ORPHA:190 |
| Anterior Segment Dysgenesis 3 |
|
Ectopia pupillae, Abnormal iris vasculature, Hypoplastic iris stroma, Posterior embryotoxon, Axen... |
OMIM:601631 |
| Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Sclerocornea, Anophthalmia, Iris coloboma, Microphthalmia |
ORPHA:77298 |
| Aniridia 3 |
|
Cataract, Aniridia |
OMIM:617142 |
| Leptin Receptor Deficiency |
|
Pituitary hypothyroidism, Decreased response to growth hormone stimulation test, Abnormal hypotha... |
OMIM:614963 |
| Otodental Dysplasia |
|
Agenesis of premolar, Tooth ankylosis, Taurodontia, Enamel hypoplasia, Long philtrum, Delayed eru... |
OMIM:166750 |
| Oculopalatocerebral Syndrome |
|
Remnants of the hyaloid vascular system, Microphthalmia, Leukocoria |
OMIM:257910 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Cataract, Microcornea, Microphthalmia |
OMIM:616171 |
| Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Hypoplasia of the pons, Everted lower lip vermilion, Abnormal spaced incisors, Thick vermilion bo... |
ORPHA:411986 |
| Cerebrooculonasal Syndrome |
|
High palate, Widely spaced teeth, Solitary median maxillary central incisor, Microdontia, U-Shape... |
ORPHA:66625 |
| Aniridia And Absent Patella |
|
Cataract, Aniridia |
OMIM:106220 |
| Persistent Hyperplastic Primary Vitreous |
|
Cataract, Hyaloid vascular remnant and retrolental mass, Microphthalmia, Buphthalmos, Persistent ... |
ORPHA:91495 |
| Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome |
|
High palate, Long philtrum, Smooth philtrum, Interhypothalamic adhesion, Short philtrum, Thin upp... |
OMIM:618929 |
| Trisomy 13 |
|
Abnormality of the dentition, Iris coloboma, Microphthalmia, Cleft palate, High, narrow palate, L... |
ORPHA:3378 |
| Microphthalmia, Isolated, With Coloboma 9 |
|
Iris coloboma, Microphthalmia, Macular coloboma, Sclerocornea, Microcornea, Ocular anterior segme... |
OMIM:615145 |
| Nail-Patella Syndrome |
|
Cataract, Lester's sign, Microphakia, Keratoconus, Microcornea, Antecubital pterygium |
OMIM:161200 |
| Orofacial Cleft 1 |
|
Cleft upper lip, Cleft palate |
OMIM:119530 |
| Orofacial Cleft 5 |
|
Cleft upper lip, Cleft palate |
OMIM:608874 |
| Orofacial Cleft 6, Susceptibility To |
|
Cleft upper lip, Cleft palate |
OMIM:608864 |
| Palatopharyngeal Incompetence |
|
Velopharyngeal insufficiency, Cleft palate |
OMIM:167500 |
| Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Aplasia/Hypoplasia of the iris, Corneal opacity, Cataract, Persistent pupillary membrane |
ORPHA:1067 |
| Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Cataract, Iris coloboma, Microphthalmia, Buphthalmos, Persistent pupillary membrane, Shallow ante... |
OMIM:221900 |
| Neurodevelopmental Disorder With Seizures And Brain Atrophy |
|
High palate, Simplified gyral pattern, Decreased thalamic volume, Long philtrum, Hypoplasia of th... |
OMIM:619072 |
| Mmep Syndrome |
|
Microphthalmia |
ORPHA:3434 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Death in childhood, Type II lissencephaly, Hydrocephalus, Hypoplasia of the pons, Simplified gyra... |
OMIM:613153 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Cataract, Microphthalmia |
OMIM:251270 |
| Cerebrooculofacioskeletal Syndrome 3 |
|
Microphthalmia |
OMIM:616570 |
| Holoprosencephaly-Caudal Dysgenesis Syndrome |
|
Cyclopia, Holoprosencephaly, Cleft palate, Median cleft lip, Abnormality of the diencephalon |
ORPHA:2165 |
| Megalocornea |
|
Cataract, Megalocornea, Astigmatism, Iridodonesis, Mosaic corneal dystrophy, Decreased corneal th... |
OMIM:309300 |
| Chromosome 11P13 Deletion Syndrome, Distal |
|
Aniridia |
OMIM:616902 |
| Cofs Syndrome |
|
Cataract, Microphthalmia |
ORPHA:1466 |
| Temtamy Syndrome |
|
Chorioretinal coloboma, Iris coloboma, Microphthalmia |
ORPHA:1777 |
| Bilateral Acute Depigmentation Of The Iris |
|
Hypoplastic iris stroma, Abnormal corneal endothelium morphology, Abnormal anterior chamber morph... |
ORPHA:69736 |
| Abruzzo-Erickson Syndrome |
|
Coloboma, Cleft palate |
OMIM:302905 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Microphthalmia |
OMIM:614830 |
| Exfoliation Syndrome |
|
Cataract, Mydriasis, Phakodonesis, Abnormal lens morphology, Iris hypoperfusion, Anisocoria, Pigm... |
OMIM:177650 |
| Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Macroglossia, Type II lissencephaly, Polymicrogyria, Hydrocephalus, Olivopontocerebellar hypoplas... |
ORPHA:370959 |
| Norrie Disease |
|
Cataract, Microphthalmia, Buphthalmos, Hypoplasia of the iris, Shallow anterior chamber, Corneal ... |
OMIM:310600 |
| Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Cataract, Microphthalmia |
OMIM:613730 |
| Cerebrooculonasal Syndrome |
|
Encephalocele, High palate, Iris coloboma, Hydrocephalus, Broad philtrum, Solitary median maxilla... |
OMIM:605627 |
| Microphthalmia, Syndromic 8 |
|
Microcornea, Microphthalmia |
OMIM:601349 |
| Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Cataract, Microphthalmia, Iris transillumination defect, Microcornea, Coloboma |
OMIM:617306 |
| Oculotrichoanal Syndrome |
|
Anophthalmia, Microphthalmia |
ORPHA:2717 |
| Joubert Syndrome 22 |
|
Microphthalmia, Coloboma |
OMIM:615665 |
| Cryptophthalmos, Unilateral Or Bilateral, Isolated |
|
Microphthalmia |
OMIM:123570 |
| Pelvis-Shoulder Dysplasia |
|
Optic disc coloboma, Opacification of the corneal stroma, Iris coloboma, Microphthalmia |
OMIM:169550 |
| Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Cataract, Microcornea, Microphthalmia |
ORPHA:48431 |
| Nance-Horan Syndrome |
|
Cataract, Microcornea, Microphthalmia |
ORPHA:627 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Cataract, Microphthalmia, Optic nerve hypoplasia |
OMIM:615181 |
| Adams-Oliver Syndrome 4 |
|
Microphthalmia |
OMIM:615297 |
| Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Tooth malposition, Iris coloboma, Bifid uvula, Submucous cleft hard palate, Microphthalmia, Cleft... |
ORPHA:2250 |
| WAGR 11p13 deletion syndrome |
|
Aniridia |
DECIPHER:35 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Developmental cataract, Microphthalmia |
OMIM:613155 |
| Holoprosencephaly 9 |
|
Abnormal cortical gyration, Bilateral cleft lip and palate, Anterior pituitary agenesis, Short ha... |
OMIM:610829 |
| Cerebrooculofacioskeletal Syndrome 2 |
|
Cataract, Developmental cataract, Microphthalmia |
OMIM:610756 |
| Fanconi Anemia, Complementation Group J |
|
Microphthalmia |
OMIM:609054 |
| Developmental Delay With Variable Neurologic And Brain Abnormalities |
|
Cataract, Astigmatism, Microphthalmia |
OMIM:619694 |
| Edict Syndrome |
|
Astigmatism, Anterior polar cataract, Hypoplasia of the iris, Keratoconus, Microcornea |
OMIM:614303 |
| Holoprosencephaly |
|
Tooth agenesis, Median cleft lip and palate, Solitary median maxillary central incisor, Intestina... |
ORPHA:2162 |
| Pallister-Hall-Like Syndrome |
|
Hydrocephalus, Occipital encephalocele, Death in infancy, Cleft palate, Hypothalamic hamartoma, M... |
OMIM:241800 |
| Cataract 8, Multiple Types |
|
Developmental cataract, Nuclear cataract |
OMIM:115665 |
| Oculogastrointestinal Neurodevelopmental Syndrome |
|
Unilateral microphthalmos, Bilateral microphthalmos, Coloboma |
OMIM:619318 |
| Lissencephaly 8 |
|
Cataract, Microphthalmia |
OMIM:617255 |
| Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Lens coloboma, Microphthalmia |
OMIM:618914 |
| Neurooculocardiogenitourinary Syndrome |
|
Peters anomaly, Microphthalmia, Coloboma |
OMIM:618652 |
| Bartsocas-Papas Syndrome 2 |
|
Axillary pterygium, Microphthalmia, Popliteal pterygium, Corneal opacity, Antecubital pterygium |
OMIM:619339 |
| Cockayne Syndrome Type 2 |
|
Developmental cataract, Conjunctivitis, Anophthalmia |
ORPHA:90322 |
| Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Cataract, Microphthalmia |
OMIM:618805 |
| Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Spina bifida, Anencephaly, Cleft palate, Ectopic anus, Non-midline cleft lip |
ORPHA:2476 |
| Baraitser-Winter Syndrome 2 |
|
Microphthalmia, Long philtrum, Pachygyria, Lissencephaly, Thin upper lip vermilion, Wide mouth, O... |
OMIM:614583 |
| Dystonia 30 |
|
Hypothalamic hamartoma |
OMIM:619291 |
| Cataract 22, Multiple Types |
|
Developmental cataract, Nuclear cataract |
OMIM:609741 |
| Warburg Micro Syndrome 1 |
|
Developmental cataract, Microcornea, Microphthalmia |
OMIM:600118 |
| Coloboma Of Macula With Type B Brachydactyly |
|
Coloboma |
OMIM:120400 |
| Rodrigues Blindness |
|
Sclerocornea, Microcornea, Microphthalmia |
OMIM:268320 |
| Kniest Dysplasia |
|
Aplasia/Hypoplasia of the lens, Cataract, Lens luxation |
ORPHA:485 |
| Fanconi Anemia, Complementation Group G |
|
Microphthalmia |
OMIM:614082 |
| Temtamy Syndrome |
|
Ectopia lentis, Iris coloboma, Lens luxation, Microphthalmia, Chorioretinal coloboma |
OMIM:218340 |
| Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Anterior encephalocele, Holoprosencephaly, Bilateral cleft lip, Bilateral cleft palate, Cleft upp... |
OMIM:601357 |
| Familial Exudative Vitreoretinopathy |
|
Abnormal optic disc morphology, Peripheral retinal avascularization, Vitreous floaters, Rhegmatog... |
ORPHA:891 |
| Microphthalmia, Syndromic 3 |
|
Cataract, Optic nerve aplasia, Microphthalmia, Optic nerve hypoplasia, Sclerocornea, Anophthalmia... |
OMIM:206900 |
| Microphthalmia With Limb Anomalies |
|
High palate, Deep philtrum, Microphthalmia, Cleft palate, Cleft upper lip, Anophthalmia |
OMIM:206920 |
| Craniopharyngioma |
|
Hypopituitarism, Increased circulating prolactin concentration, Abnormal hypothalamus morphology,... |
ORPHA:54595 |
| Van Der Woude Syndrome 1 |
|
Bifid uvula, Cleft palate, Hypodontia, Cleft upper lip, Lower lip pit |
OMIM:119300 |
| Aniridia, Partial, With Unilateral Renal Agenesis And Psychomotor Retardation |
|
Aniridia, Developmental glaucoma |
OMIM:206750 |
| Microphthalmia, Syndromic 11 |
|
Microphthalmia |
OMIM:614402 |
| Congenital Rubella Syndrome |
|
Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Microphthalmia |
ORPHA:290 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Microphthalmia |
OMIM:615771 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Cataract, Microphthalmia, Abnormally large globe, Coloboma |
OMIM:615249 |
| Idiopathic Uveal Effusion Syndrome |
|
Abnormal anterior eye segment morphology, Microphthalmia |
ORPHA:209956 |
| Frontonasal Dysplasia 1 |
|
Cataract, Microphthalmia, Coloboma |
OMIM:136760 |
| Cataract 10, Multiple Types |
|
Zonular cataract, Nuclear cataract, Posterior Y-sutural cataract, Developmental cataract |
OMIM:600881 |
| Joubert Syndrome 16 |
|
Encephalocele, Molar tooth sign on MRI, Coloboma |
OMIM:614465 |
| Craniotelencephalic Dysplasia |
|
Microphthalmia, Optic nerve hypoplasia |
OMIM:218670 |
| Vitreoretinochoroidopathy |
|
Developmental cataract, Pulverulent cataract, Microcornea, Microphthalmia |
OMIM:193220 |
| Congenital Disorder Of Glycosylation, Type Iq |
|
Cataract, Microphthalmia, Coloboma |
OMIM:612379 |
| Splenogonadal Fusion With Limb Defects And Micrognathia |
|
Stillbirth, Multiple unerupted teeth, Crowded maxillary incisors |
OMIM:183300 |
| Ectodermal Dysplasia-Blindness Syndrome |
|
Cataract, Keratoconjunctivitis sicca, Corneal dystrophy, Microphthalmia, Sclerocornea, Microcornea |
ORPHA:1806 |
| Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
|
Anophthalmia, Corneal dystrophy, Aniridia, Megalocornea |
ORPHA:1101 |
| Septopreoptic Holoprosencephaly |
|
Anteriorly placed anus, Hypoplasia of the pons, Ethmoidal encephalocele, Anterior hypopituitarism... |
ORPHA:280195 |
| Diprosopus |
|
Anencephaly, Non-midline cleft lip, Cleft palate |
ORPHA:1681 |
| Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Cataract, Microphthalmia |
ORPHA:93267 |
| Nasopalpebral Lipoma-Coloboma Syndrome |
|
Conjunctival hyperemia, Microphthalmia, Coloboma |
OMIM:167730 |
| Frontofacionasal Dysplasia |
|
Cataract, Brushfield spots, Iris coloboma, Microphthalmia, Limbal dermoid, Microcornea |
ORPHA:1791 |
| Meckel Syndrome, Type 5 |
|
Occipital encephalocele, Microphthalmia, Anencephaly, Cleft palate, Cleft upper lip |
OMIM:611561 |
| Tubulinopathy-Associated Dysgyria |
|
Hypoplasia of the pons, Abnormal brainstem morphology, Dysgyria, Pachygyria, Agyria, Abnormality ... |
ORPHA:467166 |
| Trisomy 1Q |
|
Anal atresia, Hydrocephalus, Cleft palate, Narrow mouth, Anophthalmia |
ORPHA:261344 |
| Nasopalpebral Lipoma-Coloboma Syndrome |
|
Cataract, Bilateral microphthalmos, Microphthalmia, Conjunctival hyperemia, Corneal opacity, Colo... |
ORPHA:2399 |
| Nance-Horan Syndrome |
|
Developmental cataract, Posterior Y-sutural cataract, Microcornea, Microphthalmia |
OMIM:302350 |
| Joubert Syndrome 15 |
|
Molar tooth sign on MRI, Exencephaly, Coloboma |
OMIM:614464 |
| Manitoba Oculotrichoanal Syndrome |
|
Anophthalmia, Microphthalmia |
OMIM:248450 |
| Joubert Syndrome 14 |
|
Encephalocele, Open mouth, Hydrocephalus, Meningocele, Microphthalmia, Cleft palate, Tented upper... |
OMIM:614424 |
| Cleft Lip/Palate |
|
Abnormality of dental eruption, Unilateral cleft palate, Abnormal number of permanent teeth, Clef... |
ORPHA:199306 |
| Holoprosencephaly 7 |
|
Unilateral cleft lip, Median cleft lip and palate, Solitary median maxillary central incisor, Cle... |
OMIM:610828 |
| Cataract 3, Multiple Types |
|
Cerulean cataract, Sutural cataract, Developmental cataract, Nuclear pulverulent cataract |
OMIM:601547 |
| Xk Aprosencephaly Syndrome |
|
Microphthalmia |
ORPHA:3469 |
| Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
|
Cataract, Astigmatism, Microphthalmia, Corneal opacity, Myopic astigmatism, Microcornea |
OMIM:152950 |
| Pierpont Syndrome |
|
Microcornea, Microphthalmia |
ORPHA:487825 |
| Amoebiasis Due To Free-Living Amoebae |
|
Abnormal brainstem MRI signal intensity, Abnormal pons morphology, Abnormal hypothalamus morpholo... |
ORPHA:68 |
| Aniridia-Absent Patella Syndrome |
|
Cataract, Aniridia |
ORPHA:1069 |
| Matthew-Wood Syndrome |
|
Anophthalmia, Microphthalmia |
ORPHA:2470 |
| Curry-Jones Syndrome |
|
Optic disc coloboma, Iris coloboma, Microphthalmia |
ORPHA:1553 |
| Abruzzo-Erickson Syndrome |
|
Abnormal palate morphology, Iris coloboma, Cleft palate, Chorioretinal coloboma, Coloboma |
ORPHA:921 |
| Vacterl With Hydrocephalus |
|
Esophageal atresia, Anal atresia, Spina bifida, Arrhinencephaly, Hydrocephalus, Aqueductal stenos... |
ORPHA:3412 |
| Pierpont Syndrome |
|
Microcornea, Microphthalmia |
OMIM:602342 |
| Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Bifid uvula, Deep philtrum, Microphthalmia, Cleft palate, Downturned corners of mouth, Long philt... |
ORPHA:404440 |
| Hydrolethalus Syndrome 2 |
|
Molar tooth sign on MRI, Anencephaly, Hydrocephalus, Cleft palate |
OMIM:614120 |
| 3Q29 Microduplication Syndrome |
|
Cataract, Iris coloboma, Microphthalmia, Sclerocornea, Aniridia |
ORPHA:251038 |
| Schisis Association |
|
Encephalocele, Anal atresia, Unilateral cleft lip, Spina bifida, Cleft palate, Anencephaly, Trach... |
ORPHA:63862 |
| Craniotelencephalic Dysplasia |
|
Septo-optic dysplasia, Microphthalmia |
ORPHA:1528 |
| Phace Syndrome |
|
Lens coloboma, Cataract, Iris coloboma, Microphthalmia, Optic nerve hypoplasia, Sclerocornea, Het... |
ORPHA:42775 |
| Pai Syndrome |
|
Encephalocele, Iris coloboma, Bifid uvula, Cleft palate, Abnormal oral frenulum morphology, Media... |
ORPHA:1993 |
| Proboscis Lateralis |
|
Cataract, Cyclopia, Iris coloboma, Microphthalmia, Optic nerve hypoplasia, Chorioretinal coloboma... |
ORPHA:141099 |
| Diffuse Gastric And Lobular Breast Cancer Syndrome |
|
Stomach cancer, Atrophic gastritis, Cleft upper lip, Cleft palate |
OMIM:137215 |
| Chromosome 17Q12 Duplication Syndrome |
|
Peters anomaly, Microphthalmia |
OMIM:614526 |
| Cataract 16, Multiple Types |
|
Developmental cataract, Posterior polar cataract, Lenticonus |
OMIM:613763 |
| Coasy Protein-Associated Neurodegeneration |
|
Peripheral axonal neuropathy, Abnormality of thalamus morphology |
ORPHA:397725 |
| Bresek Syndrome |
|
Microphthalmia, Iris coloboma, Optic nerve hypoplasia |
ORPHA:85284 |
| Coach Syndrome 2 |
|
Molar tooth sign on MRI, Chorioretinal coloboma, Hydrocephalus, Coloboma |
OMIM:619111 |
| Norrie Disease |
|
Cataract, Anterior chamber synechiae, Ectopia lentis, Abnormal pupil morphology, Microphthalmia, ... |
ORPHA:649 |
| Ectopia Lentis Et Pupillae |
|
Cataract, Ectopia pupillae, Ectopia lentis, Persistent pupillary membrane, Iris transillumination... |
OMIM:225200 |
| Van Der Woude Syndrome 2 |
|
Anodontia, Cleft palate, Dental malocclusion, Hypodontia, Lip pit, Cleft upper lip |
OMIM:606713 |
| Retinal Dystrophy And Iris Coloboma With Or Without Congenital Cataract |
|
Developmental cataract, Posterior synechiae of the anterior chamber, Iris coloboma |
OMIM:616722 |
| Meckel Syndrome, Type 4 |
|
Encephalocele, Hydrocephalus, Meningocele, Microphthalmia, Cleft palate, Anencephaly, Molar tooth... |
OMIM:611134 |
| Osteoporosis-Pseudoglioma Syndrome |
|
Corneal opacity, Microphthalmia |
ORPHA:2788 |
| Kapur-Toriello Syndrome |
|
Iris coloboma, Microphthalmia, Retinal coloboma |
ORPHA:2328 |
| Meckel Syndrome, Type 2 |
|
Encephalocele, Meningocele, Microphthalmia, Cleft palate, Anencephaly, Intestinal malrotation |
OMIM:603194 |
| Rere-Related Neurodevelopmental Syndrome |
|
Iris coloboma, Astigmatism, Microphthalmia, Chorioretinal coloboma, Peters anomaly |
ORPHA:494344 |
| Deafness, X-Linked 7 |
|
Unilateral microphthalmos |
OMIM:301018 |
| Xeroderma Pigmentosum, Complementation Group D |
|
Cataract, Keratitis, Keratoconjunctivitis sicca, Microphthalmia, Conjunctivitis, Corneal neovascu... |
OMIM:278730 |
| Congenital Disorder Of Deglycosylation 2 |
|
Macroglossia, High palate, Polymicrogyria, Gray matter heterotopia, Hamartoma of tongue, Hypothal... |
OMIM:619775 |
| Arrhinia-Choanal Atresia-Microphthalmia Syndrome |
|
Microphthalmia |
ORPHA:1135 |
| Cockayne Syndrome Type 1 |
|
Cataract, Conjunctivitis, Anophthalmia |
ORPHA:90321 |
| Anterior Segment Dysgenesis 1 |
|
Opacification of the corneal stroma, Posterior polar cataract, Microcornea, Peters anomaly, Ocula... |
OMIM:107250 |
| Microcephaly, Postnatal Progressive, With Seizures And Brain Atrophy |
|
Hypoplasia of the brainstem, Decreased thalamic volume |
OMIM:613668 |
| Histiocytoid Cardiomyopathy |
|
Megalocornea, Congenital aphakia, Corneal opacity, Microphthalmia |
ORPHA:137675 |
| Autosomal Recessive Spastic Paraplegia Type 11 |
|
Hypothalamic atrophy, Abnormal substantia nigra morphology |
ORPHA:2822 |
| Van Der Woude Syndrome |
|
Abnormal salivary gland morphology, Cleft palate, Hypodontia, Lip pit, Cleft upper lip, Lower lip... |
ORPHA:888 |
| 15Q24 Microdeletion Syndrome |
|
Anal atresia, Abnormality of the dentition, Abnormal palate morphology, Myelomeningocele, Decreas... |
ORPHA:94065 |
| Oculofaciocardiodental Syndrome |
|
Cataract, Ectopia lentis, Iris coloboma, Microphthalmia, Microcornea |
ORPHA:2712 |
| Tetraamelia-Multiple Malformations Syndrome |
|
Cataract, Iris coloboma, Septo-optic dysplasia, Microphthalmia, Microcornea |
ORPHA:3301 |
| Pierson Syndrome |
|
Cataract, Hypoplasia of the ciliary body, Uveal ectropion, Microphthalmia, Microcoria, Hypoplasia... |
OMIM:609049 |
| Weill-Marchesani Syndrome 1 |
|
Cataract, Shallow anterior chamber, Ectopia lentis, Microspherophakia |
OMIM:277600 |
| Meckel Syndrome |
|
Encephalocele, Aplasia/Hypoplasia of the tongue, Hydrocephalus, Lobar holoprosencephaly, Micropht... |
ORPHA:564 |
| Exudative Vitreoretinopathy 2, X-Linked |
|
Shallow anterior chamber, Microphthalmia |
OMIM:305390 |
| 3P25.3 Microdeletion Syndrome |
|
Pyloric stenosis, Deep philtrum, Microphthalmia, Cleft palate, High, narrow palate, Downturned co... |
ORPHA:435638 |
| Adams-Oliver Syndrome 2 |
|
Developmental cataract, Microphthalmia |
OMIM:614219 |
| Oculo-Palato-Cerebral Syndrome |
|
Cataract, Remnants of the hyaloid vascular system, Microphthalmia, Leukocoria |
ORPHA:2714 |
| Aniridia 1 |
|
Cataract, Hypoplasia of the fovea, Ectopia pupillae, Ectopia lentis, Macular agenesis, Corneal er... |
OMIM:106210 |
| Warburg Micro Syndrome 3 |
|
Cataract, Microphthalmia, Shallow anterior chamber, Developmental cataract, Microcornea |
OMIM:614222 |
| Stromme Syndrome |
|
Cataract, Iris coloboma, Microphthalmia, Optic nerve hypoplasia, Sclerocornea, Microcornea, Peter... |
OMIM:243605 |
| Stevenson-Carey Syndrome |
|
Microphthalmia, Coloboma |
OMIM:611961 |
| Verheij Syndrome |
|
Optic nerve hypoplasia, Cleft palate, Long philtrum, Branchial cyst, Thin upper lip vermilion, Co... |
OMIM:615583 |
| Braddock-Carey Syndrome 2 |
|
Microphthalmia |
OMIM:619981 |
| Gracile Bone Dysplasia |
|
Aniridia, Microphthalmia |
OMIM:602361 |
| Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Cataract, Microphthalmia |
OMIM:614105 |
| Orofaciodigital Syndrome Vi |
|
High palate, Polymicrogyria, Periventricular nodular heterotopia, Arrhinencephaly, Incomplete cle... |
OMIM:277170 |
| Nonarteritic Anterior Ischemic Optic Neuropathy, Susceptibility To |
|
Nonarteritic anterior ischemic optic neuropathy |
OMIM:258660 |
| Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development |
|
Hypoplasia of the pons, Midline brainstem cleft, Fusion of the left and right thalami, Hydrocephalus |
OMIM:617542 |
| Congenital Toxoplasmosis |
|
Microphthalmia |
ORPHA:858 |
| Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies |
|
Cataract, Astigmatism, Retinal coloboma, Microphthalmia |
OMIM:618571 |
| Trichothiodystrophy 3, Photosensitive |
|
Cataract, Developmental cataract, Microphthalmia |
OMIM:616395 |
| Warburg Micro Syndrome 2 |
|
Cataract, Developmental cataract, Microcornea, Microphthalmia |
OMIM:614225 |
| Charge Syndrome |
|
Abnormal soft palate morphology, Iris coloboma, Aqueductal stenosis, Holoprosencephaly, Microphth... |
ORPHA:138 |
| Microgastria-Limb Reduction Defect Syndrome |
|
Abnormal cortical gyration, Esophageal atresia, Anal atresia, Intestinal malrotation, Rectal atre... |
ORPHA:2538 |
| Sandestig-Stefanova Syndrome |
|
Developmental cataract, Microphthalmia |
OMIM:618804 |
| Congenital Fibrinogen Deficiency |
|
Developmental cataract, Microphthalmia |
ORPHA:335 |
| Amoebic Keratitis |
|
Cataract, Corneal perforation, Corneal ulceration, Abnormal corneal epithelium morphology, Puncta... |
ORPHA:67043 |
| Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs |
|
Cataract, Phakodonesis, Ectopia lentis, Microphthalmia, Spontaneous conjunctival filtering bleb, ... |
OMIM:601552 |
| Cleft Palate With Or Without Ankyloglossia, X-Linked |
|
Ankyloglossia, Bifid uvula, Cleft palate |
OMIM:303400 |
| Non Rare In Europe: Central Precocious Puberty |
|
Hypothalamic hamartoma, Increased circulating gonadotropin level, Hydrocephalus |
ORPHA:759 |
| Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Microphthalmia |
OMIM:602501 |
| Kapur-Toriello Syndrome |
|
Cataract, Iris coloboma, Microphthalmia, Retinal coloboma |
OMIM:244300 |
| Microphthalmia, Lenz Type |
|
Cataract, Iris coloboma, Microphthalmia, Chorioretinal coloboma, Optic disc coloboma, Microcornea |
ORPHA:568 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Type II lissencephaly, Anal atresia, Polymicrogyria, Hydrocephalus, Occipital encephalocele, Micr... |
OMIM:236670 |
| Hartsfield Syndrome |
|
Microphthalmia |
ORPHA:2117 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Cataract, Microphthalmia, Buphthalmos |
OMIM:616538 |
| Cerebrooculofacioskeletal Syndrome 1 |
|
Cataract, Microphthalmia |
OMIM:214150 |
| Microphthalmia, Syndromic 2 |
|
Oligodontia, Iris coloboma, Bifid uvula, Umbilical hernia, Persistence of primary teeth, Submucou... |
OMIM:300166 |
| Fibular Hemimelia |
|
Abnormal anterior chamber morphology, Anophthalmia |
ORPHA:93323 |
| Frontonasal Dysplasia 3 |
|
Microphthalmia |
OMIM:613456 |
| Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Microphthalmia |
ORPHA:2547 |
| Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome |
|
Abnormality of the diencephalon, Holoprosencephaly, Hydranencephaly |
ORPHA:2570 |
| Weill-Marchesani Syndrome 2 |
|
Cataract, Ectopia lentis, Astigmatism, Iridodonesis, Lens luxation, Microspherophakia, Shallow an... |
OMIM:608328 |
| Focal Dermal Hypoplasia |
|
Oligodontia, Anteriorly placed anus, Iris coloboma, Myelomeningocele, Hydrocephalus, Hiatus herni... |
OMIM:305600 |
| Baraitser-Winter Syndrome 1 |
|
Chorioretinal coloboma, Iris coloboma, Microphthalmia |
OMIM:243310 |
| Joubert Syndrome With Renal Defect |
|
Encephalocele, Polymicrogyria, Iris coloboma, Hydrocephalus, Aganglionic megacolon, Cleft palate,... |
ORPHA:220497 |
| Developmental And Epileptic Encephalopathy 1 |
|
Microphthalmia |
OMIM:308350 |
| Warburg Micro Syndrome 4 |
|
Developmental cataract, Microcornea, Microphthalmia |
OMIM:615663 |
| Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Microphthalmia |
OMIM:300887 |
| Cataract 39, Multiple Types |
|
Developmental cataract, Anterior polar cataract, Lamellar cataract |
OMIM:615188 |
| Microphthalmia With Limb Anomalies |
|
High palate, Hydrocephalus, Death in infancy, Microphthalmia, Cleft palate, Macrodontia, Long phi... |
ORPHA:1106 |
| Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Chorioretinal dysplasia, Retinal detachment, Retinopathy, Microphthalmia, Abnormality of retinal ... |
ORPHA:2526 |
| Fraser Syndrome |
|
Encephalocele, Anal atresia, High palate, Myelomeningocele, Umbilical hernia, Death in infancy, M... |
ORPHA:2052 |
| Joubert Syndrome With Ocular Defect |
|
Encephalocele, Polymicrogyria, Iris coloboma, Hydrocephalus, Aganglionic megacolon, Cleft palate,... |
ORPHA:220493 |
| Micro Syndrome |
|
Cataract, Microcornea, Microphthalmia, Retinal coloboma |
ORPHA:2510 |
| Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Cataract, Microphthalmia |
ORPHA:163649 |
| 17Q12 Microduplication Syndrome |
|
Microphthalmia |
ORPHA:261272 |
| Ritscher-Schinzel Syndrome 1 |
|
Anal atresia, Hydrocephalus, Decreased response to growth hormone stimulation test, Cleft palate,... |
OMIM:220210 |
| Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Type II lissencephaly, High palate, Polymicrogyria, Simplified gyral pattern, Optic nerve hypopla... |
ORPHA:300570 |
| Joubert Syndrome 2 |
|
Encephalocele, Thickened superior cerebellar peduncle, High palate, Hydrocephalus, Elongated supe... |
OMIM:608091 |
| Joubert Syndrome 21 |
|
Retinopathy, Megalopapilla, Anophthalmia, Optic atrophy |
OMIM:615636 |
| Frontorhiny |
|
Cataract, Iris coloboma, Microphthalmia |
ORPHA:391474 |
| Seckel Syndrome 2 |
|
Microphthalmia |
OMIM:606744 |
| Fraser Syndrome 1 |
|
Encephalocele, Abnormal cortical gyration, Bilateral microphthalmos, Difficulty in tongue movemen... |
OMIM:219000 |
| Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Cataract, Astigmatism, Ectopia pupillae, Microphthalmia |
OMIM:618727 |
| Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2 |
|
Decreased thalamic volume |
OMIM:618646 |
| Iridocorneal Endothelial Syndrome |
|
Ectopia pupillae, Abnormal migration of corneal endothelium, Central heterochromia, Hypoplastic i... |
ORPHA:64734 |
| Blepharocheilodontic Syndrome 1 |
|
Conical tooth, Anal atresia, Hypodontia, Neural tube defect, Cleft upper lip |
OMIM:119580 |
| Refsum Disease |
|
Cataract, Microphthalmia |
ORPHA:773 |
| Microphthalmia-Brain Atrophy Syndrome |
|
Bilateral microphthalmos |
ORPHA:77299 |
| Microphthalmia, Syndromic 9 |
|
Anophthalmia, Bilateral microphthalmos, Neonatal death |
OMIM:601186 |
| 8Q21.11 Microdeletion Syndrome |
|
Cataract, Iris hypopigmentation, Microphthalmia, Sclerocornea, Corneal opacity |
ORPHA:284160 |
| Cataract 5, Multiple Types |
|
Zonular cataract, Pulverulent cataract, Lamellar cataract, Anterior polar cataract, Nuclear cataract |
OMIM:116800 |
| Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Abnormality of the diencephalon, Abnormal brainstem morphology, High palate, Hydrocephalus |
ORPHA:2720 |
| Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Microphthalmia, Optic nerve hypoplasia |
OMIM:614833 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Cataract, Microphthalmia, Optic nerve hypoplasia, Remnants of the hyaloid vascular system, Peters... |
OMIM:614643 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Cataract, Microphthalmia, Buphthalmos, Persistent pupillary membrane, Peters anomaly |
OMIM:613150 |
| Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Ectopia pupillae, Microphthalmia, Lens subluxation, Corneal opacity, Coloboma |
ORPHA:85167 |
| Branchio-Oculo-Facial Syndrome |
|
High palate, Tooth agenesis, Iris coloboma, Upper lip pit, Deep philtrum, Microdontia, Everted lo... |
ORPHA:1297 |
| 14Q22Q23 Microdeletion Syndrome |
|
Anophthalmia, Anterior pituitary hypoplasia, Optic nerve aplasia |
ORPHA:264200 |
| Charge Syndrome |
|
Anal atresia, Esophageal atresia, Iris coloboma, Duodenal atresia, Arrhinencephaly, Umbilical her... |
OMIM:214800 |
| Orofaciodigital Syndrome I |
|
Abnormal cortical gyration, High palate, Agenesis of permanent teeth, Myelomeningocele, Hydroceph... |
OMIM:311200 |
| Encephalocraniocutaneous Lipomatosis |
|
Limbal dermoid, Hypoplasia of the iris, Sclerocornea, Microphthalmia |
OMIM:613001 |
| Oculoskeletodental Syndrome |
|
Oligodontia, Abnormality of the dentition, Enamel hypoplasia, Microdontia, Abnormality of thalamu... |
ORPHA:557003 |
| Xeroderma Pigmentosum, Complementation Group B |
|
Cataract, Microphthalmia |
OMIM:610651 |
| Alexander Disease Type I |
|
Abnormal thalamic MRI signal intensity, Hydrocephalus |
ORPHA:363717 |
| Orofaciodigital Syndrome Type 6 |
|
High palate, Tongue nodules, Cleft palate, Hamartoma of tongue, Hypothalamic hamartoma, Midline n... |
ORPHA:2754 |
| Cataract 20, Multiple Types |
|
Membranous cataract, Cortical cataract, Sutural cataract, Lamellar cataract |
OMIM:116100 |
| Lethal Omphalocele-Cleft Palate Syndrome |
|
Bifid uvula, Hydrocephalus, Unilateral cleft lip, Cleft palate, Cleft soft palate |
ORPHA:2736 |
| Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Polymicrogyria, Hydrocephalus, Accessory oral frenulum, Cleft palate, Occipital meningocele, Hama... |
OMIM:616546 |
| Neuroocular Syndrome |
|
Lens coloboma, Hypoplasia of the fovea, Blue irides, Cataract, Brushfield spots, Iris coloboma, S... |
OMIM:619539 |
| Marcus-Gunn Syndrome |
|
Coloboma, Cleft lip, Cleft palate |
ORPHA:91412 |
| Trichothiodystrophy 4, Nonphotosensitive |
|
Keratoconjunctivitis sicca, Microcornea, Microphthalmia |
OMIM:234050 |
| Ritscher-Schinzel Syndrome 3 |
|
Chorioretinal coloboma, Microphthalmia |
OMIM:619135 |
| Ring Chromosome 10 Syndrome |
|
Microphthalmia |
ORPHA:1438 |
| Microphthalmia, Syndromic 6 |
|
High palate, Bifid uvula, Microphthalmia, Cleft palate, Microglossia, Anophthalmia, Anterior hypo... |
OMIM:607932 |
| Acro-Renal-Ocular Syndrome |
|
Cataract, Iris coloboma, Optic disc hypoplasia, Microphthalmia, Chorioretinal coloboma, Optic dis... |
ORPHA:959 |
| Papillorenal Syndrome |
|
Cataract, Lens luxation, Microphthalmia, Optic disc coloboma, Retinal coloboma |
OMIM:120330 |
| Acrocallosal Syndrome |
|
Bifid uvula, Cleft palate, Narrow mouth, Prominent palatine ridges, Smooth philtrum, Thin vermili... |
OMIM:200990 |
| Steinfeld Syndrome |
|
Iris coloboma, Microphthalmia, Retinal coloboma |
OMIM:184705 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia |
|
Optic disc hypoplasia, Long philtrum, Smooth philtrum, Hypoplasia of the brainstem, Molar tooth s... |
OMIM:619306 |
| Osteopetrosis, Autosomal Recessive 8 |
|
Unilateral microphthalmos |
OMIM:615085 |
| Phace Association |
|
Developmental cataract, Microphthalmia, Optic nerve hypoplasia |
OMIM:606519 |
| Subaortic Stenosis-Short Stature Syndrome |
|
Microphthalmia |
ORPHA:3191 |
| Coach Syndrome 1 |
|
Encephalocele, Occipital encephalocele, Esophageal varix, Molar tooth sign on MRI, Wide mouth, Co... |
OMIM:216360 |
| Fanconi Anemia, Complementation Group I |
|
Astigmatism, Microphthalmia, Optic nerve hypoplasia |
OMIM:609053 |
| Multiple Benign Circumferential Skin Creases On Limbs |
|
Microcornea, Microphthalmia |
ORPHA:2505 |
| Rhombencephalosynapsis |
|
Esophageal atresia, Anal atresia, Hydrocephalus, Septo-optic dysplasia, Aganglionic megacolon, Na... |
ORPHA:59315 |
| Holoprosencephaly 3 |
|
Cyclopia, Bifid uvula, Cleft lip, Solitary median maxillary central incisor, Holoprosencephaly, C... |
OMIM:142945 |
| Microphthalmia With Linear Skin Defects Syndrome |
|
Microphthalmia, Sclerocornea, Corneal opacity, Posterior embryotoxon, Anophthalmia |
ORPHA:2556 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 10 |
|
Microphthalmia |
OMIM:619053 |
| X-Linked Dominant Chondrodysplasia Punctata |
|
Cataract, Microcornea, Microphthalmia |
ORPHA:35173 |
| Cach Syndrome |
|
T2 hypointense thalamus, Atrophy/Degeneration affecting the brainstem, Dysgyria, Abnormal pons mo... |
ORPHA:135 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Cataract, Microcornea, Microphthalmia |
OMIM:616449 |
| Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive |
|
Thalamic calcification |
OMIM:618824 |
| Oculodentodigital Dysplasia, Autosomal Recessive |
|
Persistent pupillary membrane, Cataract, Microcornea, Microphthalmia |
OMIM:257850 |
| Familial Acute Necrotizing Encephalopathy |
|
Abnormal brainstem MRI signal intensity, Abnormal brainstem morphology, Abnormality of thalamus m... |
ORPHA:88619 |
| Holoprosencephaly 14 |
|
Cyclopia, Cleft lip, Hydrocephalus, Aqueductal stenosis, Alobar holoprosencephaly, Holoprosenceph... |
OMIM:619895 |
| Frontofacionasal Dysplasia |
|
Cataract, Microcornea, Iris coloboma, Microphthalmia |
OMIM:229400 |
| Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome |
|
Ocular albinism, Microphthalmia |
ORPHA:1352 |
| Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Microphthalmia |
OMIM:300863 |
| Branchiooculofacial Syndrome |
|
Malrotation of colon, Abnormality of the dentition, Iris coloboma, Pyloric stenosis, Microphthalm... |
OMIM:113620 |
| Combined Oxidative Phosphorylation Deficiency 51 |
|
Focal T2 hyperintense thalamic lesion |
OMIM:619057 |
| Joubert Syndrome 37 |
|
Microphthalmia |
OMIM:619185 |
| Pallister-Hall Syndrome |
|
Anal atresia, Anteriorly placed anus, Holoprosencephaly, Decreased response to growth hormone sti... |
OMIM:146510 |
| Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Cataract, Iris coloboma, Microphthalmia, Sclerocornea, Peters anomaly |
OMIM:309801 |
| Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive |
|
Thalamic calcification |
OMIM:618317 |
| Microphthalmia, Syndromic 1 |
|
Anal atresia, High palate, Tooth malposition, Iris coloboma, Pyloric stenosis, Optic disc colobom... |
OMIM:309800 |
| Basal Ganglia Calcification, Idiopathic, 5 |
|
Thalamic calcification |
OMIM:615483 |
| Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2 |
|
T2 hypointense thalamus |
OMIM:618193 |
| Marfan Syndrome |
|
Cataract, Ectopia lentis, Astigmatism, Microspherophakia, Hypoplasia of the iris, Increased axial... |
OMIM:154700 |
| Chromosome 8Q21.11 Deletion Syndrome |
|
Cataract, Sclerocornea, Microphthalmia |
OMIM:614230 |
| Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Unilateral microphthalmos, Iris coloboma |
OMIM:618874 |
| Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Encephalocele, Anal atresia, Cleft lip, Incomplete cleft of the upper lip, Microphthalmia, Cleft ... |
OMIM:616300 |
| Leukoencephalopathy With Dystonia And Motor Neuropathy |
|
Focal T2 hyperintense thalamic lesion |
OMIM:613724 |
| Monosomy 18P |
|
Microphthalmia |
ORPHA:1598 |
| Panhypophysitis |
|
Abnormal thalamic MRI signal intensity, Increased circulating prolactin concentration, Gonadotrop... |
ORPHA:95513 |
| Trichothiodystrophy 1, Photosensitive |
|
Cataract, Keratoconjunctivitis sicca, Microcornea, Microphthalmia |
OMIM:601675 |
| Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Bilateral microphthalmos, Ocular anterior segment dysgenesis |
ORPHA:369891 |
| Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Selective tooth agenesis, Fragile teeth, Bifid uvula, Dental malocclusion, Hypodontia, Abnormalit... |
ORPHA:2959 |
| Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Microcornea, Microphthalmia |
OMIM:110100 |
| Fanconi Anemia, Complementation Group S |
|
Microphthalmia |
OMIM:617883 |
| Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type |
|
Miscarriage, T2 hypointense thalamus |
ORPHA:1947 |
| Linear Nevus Sebaceus Syndrome |
|
Iris coloboma, Microphthalmia |
ORPHA:2612 |
| Martsolf Syndrome 1 |
|
Cataract, Developmental cataract, Microphthalmia |
OMIM:212720 |
| Myoclonic-Astatic Epilepsy |
|
Microphthalmia |
ORPHA:1942 |
| Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Abnormal thalamic MRI signal intensity, Optic atrophy, Decreased nerve conduction velocity, Optic... |
ORPHA:485421 |
| Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Sclerocornea, Microphthalmia |
OMIM:300952 |
| Pelvis-Shoulder Dysplasia |
|
Microcornea, Iris coloboma, Bilateral microphthalmos, Retinal coloboma |
ORPHA:2839 |
| Skin Creases, Congenital Symmetric Circumferential, 1 |
|
Microcornea, Microphthalmia |
OMIM:156610 |
| Mycophenolate Mofetil Embryopathy |
|
Chorioretinal coloboma, Iris coloboma, Microphthalmia |
ORPHA:268249 |
| Duane-Radial Ray Syndrome |
|
Cataract, Iris coloboma, Optic disc hypoplasia, Microphthalmia, Retinal coloboma |
OMIM:607323 |
| Atelis Syndrome 2 |
|
Developmental cataract, Remnants of the hyaloid vascular system, Microphthalmia |
OMIM:620185 |
| Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
Bilateral microphthalmos, Optic nerve hypoplasia |
OMIM:607597 |
| Adams-Oliver Syndrome |
|
Cataract, Microphthalmia |
ORPHA:974 |
| Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Microphthalmia |
ORPHA:228390 |
| Kenny-Caffey Syndrome, Type 2 |
|
Developmental cataract, Microphthalmia |
OMIM:127000 |
| Moebius Syndrome |
|
Microphthalmia |
OMIM:157900 |
| Lymphedema-Distichiasis Syndrome |
|
Recurrent corneal erosions, Conjunctivitis, Corneal ulceration, Microphthalmia |
OMIM:153400 |
| Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome |
|
Iris coloboma, Microphthalmia |
ORPHA:1236 |
| Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Microphthalmia |
OMIM:618494 |
| X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Microphthalmia |
ORPHA:163966 |
| Bosma Arhinia Microphthalmia Syndrome |
|
Cataract, Microphthalmia, Coloboma |
OMIM:603457 |
| 1Q21.1 Microdeletion Syndrome |
|
Cataract, Iris coloboma, Microphthalmia |
ORPHA:250989 |
| Adenohypophysitis |
|
Abnormal thalamic MRI signal intensity, Increased circulating prolactin concentration, Gonadotrop... |
ORPHA:95512 |
| Focal Dermal Hypoplasia |
|
Ectopia lentis, Iris coloboma, Microphthalmia, Hypoplasia of the iris, Chorioretinal coloboma, Co... |
ORPHA:2092 |
| Monosomy 13Q14 |
|
Cataract, Iris coloboma, Microphthalmia |
ORPHA:1587 |
| Sponastrime Dysplasia |
|
Cataract, Congenital aphakia, Microcoria |
ORPHA:93357 |
| 3Q29 Microdeletion Syndrome |
|
Cataract, Microphthalmia |
ORPHA:65286 |
| Fanconi Anemia, Complementation Group R |
|
Microphthalmia |
OMIM:617244 |
| Microcephaly 20, Primary, Autosomal Recessive |
|
Microphthalmia, Optic nerve hypoplasia |
OMIM:617914 |
| Curry-Jones Syndrome |
|
Iris coloboma, Microphthalmia |
OMIM:601707 |
| Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Cataract, Microphthalmia |
OMIM:302960 |
| Trisomy 18 |
|
Cataract, Cyclopia, Iris coloboma, Microphthalmia, Microcornea |
ORPHA:3380 |
| Orofaciodigital Syndrome Xiv |
|
Polymicrogyria, Anteriorly placed anus, Cleft lip, Simplified gyral pattern, Occipital encephaloc... |
OMIM:615948 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Cataract, Microphthalmia |
OMIM:253800 |
| 2Q31.1 Microdeletion Syndrome |
|
Optic disc coloboma, Iris coloboma, Microphthalmia, Coloboma |
ORPHA:251014 |
| Combined Oxidative Phosphorylation Defect Type 7 |
|
Abnormal thalamic MRI signal intensity, Abnormal brainstem MRI signal intensity, Paralytic ileus |
ORPHA:254930 |
| Jacobsen Syndrome |
|
Iris coloboma, Microphthalmia, Chorioretinal coloboma, Microcornea, Macular hypoplasia |
OMIM:147791 |
| Cat Eye Syndrome |
|
Chorioretinal coloboma, Iris coloboma, Microphthalmia |
OMIM:115470 |
| Galloway-Mowat Syndrome 1 |
|
Cataract, Hypoplasia of the iris, Opacification of the corneal stroma, Microphthalmia |
OMIM:251300 |
| Fetal Alcohol Syndrome |
|
Microphthalmia |
ORPHA:1915 |
| Heart And Brain Malformation Syndrome |
|
Microphthalmia |
OMIM:616920 |
| Pseudotrisomy 13 Syndrome |
|
Cyclopia, Microphthalmia |
OMIM:264480 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Cataract, Megalocornea, Microphthalmia, Buphthalmos, Hypoplasia of the retina, Opacification of t... |
OMIM:253280 |
| Combined Oxidative Phosphorylation Defect Type 23 |
|
Abnormal thalamic MRI signal intensity, Abnormal brainstem MRI signal intensity |
ORPHA:444013 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 3 |
|
Death in infancy, Focal T2 hyperintense thalamic lesion |
OMIM:619046 |
| Hallermann-Streiff Syndrome |
|
Cataract, Iris coloboma, Microphthalmia, Chorioretinal coloboma, Optic disc coloboma |
OMIM:234100 |
| Semilobar Holoprosencephaly |
|
High palate, Cyclopia, Bifid uvula, Hydrocephalus, Abnormal brainstem morphology, Solitary median... |
ORPHA:220386 |
| Alobar Holoprosencephaly |
|
High palate, Cyclopia, Bifid uvula, Hydrocephalus, Abnormal brainstem morphology, Solitary median... |
ORPHA:93925 |
| Midline Interhemispheric Variant Of Holoprosencephaly |
|
High palate, Cyclopia, Bifid uvula, Hydrocephalus, Abnormal brainstem morphology, Solitary median... |
ORPHA:93926 |
| Lobar Holoprosencephaly |
|
High palate, Cyclopia, Bifid uvula, Hydrocephalus, Abnormal brainstem morphology, Solitary median... |
ORPHA:93924 |
| Osteoporosis-Pseudoglioma Syndrome |
|
Cataract, Absent anterior chamber of the eye, Microphthalmia, Phthisis bulbi, Iris atrophy |
OMIM:259770 |
| Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Cyclopia, Iris coloboma, Microphthalmia |
ORPHA:3186 |
| Joubert Syndrome 5 |
|
Thickened superior cerebellar peduncle, Occipital encephalocele, Cleft palate, Molar tooth sign o... |
OMIM:610188 |
| Cohen Syndrome |
|
Iris coloboma, Microphthalmia |
ORPHA:193 |
| Japanese Encephalitis |
|
Abnormal pons morphology, Abnormal substantia nigra morphology, Focal T2 hyperintense thalamic le... |
ORPHA:79139 |
| Marden-Walker Syndrome |
|
Microphthalmia |
OMIM:248700 |
| Basal Cell Nevus Syndrome 1 |
|
Cataract, Iris coloboma, Microphthalmia |
OMIM:109400 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Developmental cataract, Microcornea, Microphthalmia |
ORPHA:464738 |
| Incontinentia Pigmenti |
|
Cataract, Hypoplasia of the fovea, Keratitis, Microphthalmia |
OMIM:308300 |
| Leigh Syndrome With Cardiomyopathy |
|
Abnormal brainstem morphology, Abnormality of thalamus morphology |
ORPHA:70474 |
| Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Microphthalmia |
ORPHA:2728 |
| Dubowitz Syndrome |
|
Megalocornea, Hypoplasia of the iris, Iris coloboma, Microphthalmia |
OMIM:223370 |
| Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Microphthalmia |
OMIM:241410 |
| Neurodevelopmental Disorder With Language Delay And Seizures |
|
Hypothalamic hamartoma |
OMIM:619908 |
| Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies |
|
Microphthalmia |
OMIM:620098 |
| Chromosome 1Q41-Q42 Deletion Syndrome |
|
Microphthalmia |
OMIM:612530 |
| Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Corneal opacity, Microphthalmia |
ORPHA:364577 |
| Momo Syndrome |
|
Chorioretinal coloboma, Bilateral microphthalmos |
ORPHA:2563 |
| Acrofrontofacionasal Dysostosis 1 |
|
Iris atrophy, Microphthalmia |
OMIM:201180 |
| Rothmund-Thomson Syndrome, Type 2 |
|
Cataract, Zonular cataract, Microcornea, Microphthalmia |
OMIM:268400 |
| Mosaic Trisomy 1 |
|
Opacification of the corneal stroma, Microphthalmia |
ORPHA:1692 |
| Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Ectopia pupillae, Astigmatism, Microphthalmia, Hypoplasia of the iris, Corneal opacity, Developme... |
OMIM:175780 |
| Craniofacial Microsomia |
|
Transverse facial cleft, Hydrocephalus, Occipital encephalocele, Microphthalmia, Cleft palate, Br... |
OMIM:164210 |
| Fryns Syndrome |
|
Corneal opacity, Microphthalmia |
ORPHA:2059 |
| Neuroferritinopathy |
|
Iron accumulation in substantia nigra, Abnormal thalamic MRI signal intensity, T2 hypointense tha... |
ORPHA:157846 |
| Juvenile Neuronal Ceroid Lipofuscinosis |
|
Focal T2 hyperintense thalamic lesion |
ORPHA:79264 |
| Incontinentia Pigmenti |
|
Cataract, Keratitis, Corneal opacity, Microphthalmia |
ORPHA:464 |
| Cerebrooculofacioskeletal Syndrome 4 |
|
Bilateral microphthalmos |
OMIM:610758 |
| Premature Aging Syndrome, Penttinen Type |
|
Corneal stromal edema, Corneal opacity, Microphthalmia |
OMIM:601812 |
| Mosaic Trisomy 9 |
|
Corneal opacity, Microphthalmia |
ORPHA:99776 |
| Monosomy 9Q22.3 |
|
Cataract, Microphthalmia |
ORPHA:77301 |
| New-Onset Refractory Status Epilepticus |
|
Abnormal thalamic MRI signal intensity |
ORPHA:363558 |
| Orofaciodigital Syndrome Type 14 |
|
Accessory oral frenulum, Cleft palate, Hamartoma of tongue, Supernumerary tooth, Bifid tongue, Lo... |
ORPHA:434179 |
| Oculodentodigital Dysplasia |
|
Cataract, Microcornea, Microphthalmia |
OMIM:164200 |
| Chromosome 13Q14 Deletion Syndrome |
|
Chorioretinal coloboma, Iris coloboma, Microphthalmia |
OMIM:613884 |
| Slc35A2-Cdg |
|
Elevated circulating thyroid-stimulating hormone concentration, Atrophy/Degeneration affecting th... |
ORPHA:356961 |
| Cousin Syndrome |
|
Microcornea, Microphthalmia |
OMIM:260660 |
| Hydranencephaly |
|
Thalamic edema, Atrophic pituitary gland, Optic nerve hypoplasia, Dysgenesis of the thalamus, Cho... |
ORPHA:2177 |
| Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Iris coloboma, Microphthalmia, Optic nerve hypoplasia, Retinal coloboma, Coloboma |
ORPHA:508498 |
| Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Cyclopia, Microphthalmia |
ORPHA:2166 |
| Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Peters anomaly, Microphthalmia, Coloboma |
OMIM:616975 |
| Meningioma |
|
Brain stem compression, Focal T2 hypointense thalamic lesion, Increased circulating prolactin con... |
ORPHA:2495 |
| Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Cataract, Microphthalmia |
ORPHA:306542 |
| Treacher-Collins Syndrome |
|
Cataract, Iris coloboma, Microphthalmia |
ORPHA:861 |
| Cockayne Syndrome Type 3 |
|
Cataract, Corneal ulceration, Lentiglobus, Keratoconjunctivitis sicca, Microphthalmia, Microcornea |
ORPHA:90324 |
| Tetraamelia Syndrome 1 |
|
Cataract, Microphthalmia |
OMIM:273395 |
| Chromosome 13Q33-Q34 Deletion Syndrome |
|
Microphthalmia |
OMIM:619148 |
| Isolated Arrhinia |
|
Microphthalmia |
ORPHA:1134 |
| Aicardi Syndrome |
|
Cataract, Optic disc coloboma, Microphthalmia |
OMIM:304050 |
| Microcephaly-Micromelia Syndrome |
|
Microphthalmia |
OMIM:251230 |
| Diarrhea 10, Protein-Losing Enteropathy Type |
|
Elevated circulating thyroid-stimulating hormone concentration, Protein-losing enteropathy, Death... |
OMIM:618183 |
| Mosaic Variegated Aneuploidy Syndrome |
|
Cataract, Corneal opacity, Microphthalmia |
ORPHA:1052 |
| Hallermann-Streiff Syndrome |
|
Developmental cataract, Microphthalmia |
ORPHA:2108 |
| Frontonasal Dysplasia 2 |
|
Microphthalmia |
OMIM:613451 |
| Mend Syndrome |
|
Cataract, Microphthalmia |
ORPHA:401973 |
| Holoprosencephaly 2 |
|
Cyclopia, Iris coloboma, Microphthalmia, Chorioretinal coloboma, Remnants of the hyaloid vascular... |
OMIM:157170 |
| Adult Krabbe Disease |
|
Abnormal medulla oblongata morphology, Abnormal pons morphology, Abnormal midbrain morphology |
ORPHA:206448 |
| Cockayne Syndrome B |
|
Microphthalmia, Hypoplasia of the iris, Opacification of the corneal stroma, Developmental catara... |
OMIM:133540 |
| Aicardi Syndrome |
|
Optic disc coloboma, Chorioretinal coloboma, Microphthalmia |
ORPHA:50 |
| Leigh Syndrome |
|
Focal T2 hyperintense brainstem lesion, Abnormal thalamic MRI signal intensity, Abnormal brainste... |
ORPHA:506 |
