Anterior Segment Dysgenesis 8 |
|
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Hypoplasia of the iris, Iris transillumi... |
OMIM:617319 |
Microphthalmia, Isolated, With Cataract 1 |
|
Microphthalmia, Cataract |
OMIM:156850 |
Microphthalmia, Isolated, With Coloboma 4 |
|
Microcornea, Microphthalmia, Coloboma |
OMIM:251505 |
Sub-Cortical Nodular Heterotopia |
|
Polymicrogyria, Subcortical heterotopia, Agenesis of corpus callosum, Abnormality of neuronal mig... |
ORPHA:101029 |
Lissencephaly, X-Linked, 1 |
|
Gray matter heterotopia, Lissencephaly, Pachygyria, Agenesis of corpus callosum, Agyria |
OMIM:300067 |
Congenital Primary Aphakia |
|
Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Sclerocornea, Conge... |
ORPHA:83461 |
Microphthalmia, Isolated, With Coloboma 10 |
|
Anophthalmia, Chorioretinal coloboma, Microphthalmia, Microcoria, Iris coloboma |
OMIM:616428 |
Lissencephaly 3 |
|
Periventricular laminar heterotopia, Pachygyria, Gray matter heterotopia, Lissencephaly, Polymicr... |
OMIM:611603 |
Microphthalmia, Isolated, With Coloboma 3 |
|
Microphthalmia, Cataract, Iris coloboma |
OMIM:610092 |
Chudley-Mccullough Syndrome |
|
Gray matter heterotopia, Dysplastic corpus callosum, Partial agenesis of the corpus callosum, Pol... |
OMIM:604213 |
Cortical Dysplasia, Complex, With Other Brain Malformations 3 |
|
Subcortical band heterotopia, Gray matter heterotopia, Lissencephaly, Pachygyria, Agyria |
OMIM:615411 |
Microphthalmia, Isolated, With Coloboma 6 |
|
Hypoplasia of the fovea, Coloboma, Bilateral microphthalmos, Optic disc hypoplasia |
OMIM:613703 |
Anterior Segment Dysgenesis 2 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Coloboma, Posterior synechiae of the anteri... |
OMIM:610256 |
Microphthalmia, Isolated, With Coloboma 7 |
|
Microphthalmia, Iris coloboma, Inferior chorioretinal coloboma |
OMIM:614497 |
Cataract 11, Multiple Types |
|
Microphthalmia, Cataract, Developmental cataract |
OMIM:610623 |
Cataract 9, Multiple Types |
|
Progressive cataract, Cataract, Developmental cataract, Microcornea, Microphthalmia, Iris coloboma |
OMIM:604219 |
Mismatch Repair Cancer Syndrome 4 |
|
Gray matter heterotopia, Agenesis of corpus callosum |
OMIM:619101 |
Lissencephaly 1 |
|
Subcortical band heterotopia, Gray matter heterotopia, Lissencephaly, Pachygyria, Agyria |
OMIM:607432 |
Blindness-Scoliosis-Arachnodactyly Syndrome |
|
Cataract, Lens subluxation, Microphakia |
ORPHA:171844 |
Band Heterotopia |
|
Subcortical band heterotopia, Gray matter heterotopia, Lateral ventricle dilatation, Polymicrogyr... |
OMIM:600348 |
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome |
|
Aplasia/Hypoplasia of the lens, Cataract |
ORPHA:1381 |
Microphthalmia, Isolated, With Coloboma 5 |
|
Anophthalmia, Bilateral microphthalmos, Chorioretinal coloboma, Microphthalmia, Iris coloboma |
OMIM:611638 |
Nodular Neuronal Heterotopia |
|
Abnormality of neuronal migration |
ORPHA:2149 |
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Seizure, Abnormal social behavior |
ORPHA:436151 |
Nanophthalmos 1 |
|
Bilateral microphthalmos |
OMIM:600165 |
Microphthalmia, Isolated 7 |
|
Microphthalmia |
OMIM:613704 |
Nanophthalmos 2 |
|
Microphthalmia |
OMIM:609549 |
Microphthalmia, Isolated 4 |
|
Microphthalmia, Coloboma |
OMIM:613094 |
Microlissencephaly |
|
Subcortical heterotopia, Periventricular heterotopia, Simplified gyral pattern, Lissencephaly, Pa... |
ORPHA:1083 |
Microphthalmia, Isolated 2 |
|
Microphthalmia, Opacification of the corneal stroma |
OMIM:610093 |
Xeroderma Pigmentosum, Complementation Group G |
|
Microphthalmia, Cataract, Infantile spasms |
OMIM:278780 |
Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Microcornea, Microphthalmia, Corneal opacity |
ORPHA:2432 |
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Microphthalmia, Cataract, Iris coloboma, Chorioretinal coloboma |
OMIM:120433 |
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Coloboma, Peters anomaly, Microphthalmia, Ocular anterior segment dysgenesis, Iris coloboma |
OMIM:610023 |
Female Restricted Epilepsy With Intellectual Disability |
|
Bilateral tonic-clonic seizure, Generalized clonic seizure, Focal-onset seizure, Generalized non-... |
ORPHA:101039 |
Foveal Hypoplasia 2 |
|
Hypoplasia of the fovea, Astigmatism, Axenfeld anomaly, Microphthalmia, Posterior embryotoxon |
OMIM:609218 |
Oculoauricular Syndrome |
|
Cataract, Sclerocornea, Phthisis bulbi, Developmental cataract, Microcornea, Iris cyst, Macular h... |
OMIM:612109 |
Hereditary Geniospasm |
|
Abnormal social behavior, Chin myoclonus |
ORPHA:53372 |
Isolated Lissencephaly Type 1 Without Known Genetic Defects |
|
Gray matter heterotopia, Pachygyria, Agyria |
ORPHA:1084 |
Weill-Marchesani Syndrome 3 |
|
Shallow anterior chamber, Microspherophakia, Ectopia lentis |
OMIM:614819 |
Periventricular Heterotopia With Microcephaly, Autosomal Recessive |
|
Periventricular nodular heterotopia, Periventricular heterotopia |
OMIM:608097 |
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Remnants of the hyaloid vascular system, Microcornea, Posterior lenticonus, Chorioretinal colobom... |
ORPHA:231736 |
Anterior Segment Dysgenesis 5 |
|
Hypoplasia of the fovea, Rieger anomaly, Sclerocornea, Developmental cataract, Hypoplasia of the ... |
OMIM:604229 |
Autosomal Dominant Keratitis |
|
Hypoplasia of the fovea, Cataract, Keratitis, Bilateral microphthalmos, Abnormal corneal limbus m... |
ORPHA:2334 |
Congenital Varicella Syndrome |
|
Microphthalmia, Cataract |
ORPHA:291 |
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma |
|
Iridodonesis, Ectopia lentis, Deep anterior chamber, Microspherophakia, Buphthalmos, Megalocornea |
OMIM:251750 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3 |
|
Microphthalmia |
OMIM:616335 |
Facial Clefting, Oblique, 1 |
|
Microphthalmia, Coloboma |
OMIM:600251 |
2Q24 Microdeletion Syndrome |
|
Cataract, Abnormality iris morphology, Seizure, Coloboma, Microphthalmia |
ORPHA:1617 |
Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Microcornea, Microphthalmia, Cataract |
ORPHA:2528 |
Anterior Segment Dysgenesis 7 |
|
Cataract, Corneal opacity, Sclerocornea, Buphthalmos, Microcornea, Anterior synechiae of the ante... |
OMIM:269400 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Microphthalmia, Seizure, Coloboma |
OMIM:274270 |
Spondylo-Ocular Syndrome |
|
Cataract, Microphthalmia, Aplasia/Hypoplasia of the lens, Iris hypopigmentation |
ORPHA:85194 |
Gombo Syndrome |
|
Microphthalmia |
OMIM:233270 |
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Microphthalmia, Ocular anterior segment dysgenesis, Coloboma, Developmental cataract |
ORPHA:324416 |
Microphthalmia, Syndromic 13 |
|
Microcornea, Microphthalmia, Iris coloboma, Chorioretinal coloboma |
OMIM:300915 |
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:85275 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Cataract, Corneal opacity, Chorioretinal coloboma, Microphthalmia, Posterior embryotoxon, Iris co... |
ORPHA:1473 |
Microphthalmia, Isolated 6 |
|
Microcornea, Microphthalmia |
OMIM:613517 |
Polymicrogyria Due To Tubb2B Mutation |
|
Perisylvian polymicrogyria, Gray matter heterotopia, Lateral ventricle dilatation, Lissencephaly,... |
ORPHA:300573 |
Microphthalmia, Syndromic 16 |
|
Microphthalmia, Anophthalmia, Sclerocornea |
OMIM:611038 |
Polymicrogyria With Optic Nerve Hypoplasia |
|
Dysplastic corpus callosum, Colpocephaly, Polymicrogyria, Agenesis of corpus callosum |
ORPHA:250972 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Microcornea, Microphthalmia, Seizure, Cataract |
OMIM:616171 |
Autosomal Recessive Primary Microcephaly |
|
Gray matter heterotopia, Pachygyria, Agenesis of corpus callosum |
ORPHA:2512 |
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations |
|
Pachygyria, Simplified gyral pattern, Abnormality of neuronal migration, Gray matter heterotopia,... |
OMIM:604317 |
Premature Ovarian Failure 12 |
|
Microphthalmia |
OMIM:616947 |
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
Microphthalmia |
OMIM:251700 |
Microphthalmia, Isolated 1 |
|
Microphthalmia, Anophthalmia |
OMIM:251600 |
Cornea Plana 2, Autosomal Recessive |
|
Flat cornea, Corneal opacity, Sclerocornea, Corneal arcus, Decreased corneal thickness, Microphth... |
OMIM:217300 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Microphthalmia, Seizure, Cataract |
OMIM:251270 |
Lissencephaly 6 With Microcephaly |
|
Periventricular heterotopia, Partial agenesis of the corpus callosum, Simplified gyral pattern, M... |
OMIM:616212 |
Nanophthalmos |
|
Microphthalmia |
ORPHA:35612 |
Biemond Syndrome Type 2 |
|
Microphthalmia, Coloboma |
ORPHA:141333 |
Cofs Syndrome |
|
Microphthalmia, Seizure, Cataract |
ORPHA:1466 |
Otodental Syndrome |
|
Cataract, Lens coloboma, Microcornea, Retinal coloboma, Microphthalmia, Iris coloboma |
ORPHA:2791 |
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Abnormality of neuronal migration |
OMIM:618709 |
Nail-Patella Syndrome |
|
Keratoconus, Cataract, Antecubital pterygium, Microcornea, Microphakia, Lester's sign |
OMIM:161200 |
Microphthalmia With Brain And Digit Anomalies |
|
Anophthalmia, Cataract, Sclerocornea, Microcornea, Seizure, Chorioretinal coloboma, Microphthalmi... |
ORPHA:139471 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Microphthalmia, Seizure, Cataract |
OMIM:613730 |
Microphthalmia, Isolated 5 |
|
Microphthalmia, Cataract |
OMIM:611040 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Microphthalmia, Cataract, Retinal coloboma |
OMIM:601794 |
Norrie Disease |
|
Cataract, Corneal opacity, Leukocoria, Hypoplasia of the iris, Seizure, Shallow anterior chamber,... |
OMIM:310600 |
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Microphthalmia |
ORPHA:1574 |
Nanophthalmos 4 |
|
Microphthalmia |
OMIM:615972 |
Glutathionuria |
|
Gray matter heterotopia, Agenesis of corpus callosum |
OMIM:231950 |
Microphthalmia, Syndromic 5 |
|
Anophthalmia, Cataract, Optic nerve hypoplasia, Microcornea, Seizure, Coloboma, Microphthalmia |
OMIM:610125 |
Chromosome 11P13 Deletion Syndrome, Distal |
|
Aniridia, Seizure |
OMIM:616902 |
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma |
|
Microphthalmia, Shallow anterior chamber |
OMIM:267760 |
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Microphthalmia, Cataract, Retinal coloboma |
ORPHA:363741 |
Lissencephaly 8 |
|
Microphthalmia, Seizure, Cataract |
OMIM:617255 |
Subependymal Nodular Heterotopia |
|
Gray matter heterotopia, Partial agenesis of the corpus callosum, Polymicrogyria, Abnormality of ... |
ORPHA:101030 |
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Cataract, Corneal scarring, Buphthalmos, Chorioretinal coloboma, Microphthalmia, Iris coloboma |
OMIM:212550 |
Myoclonic-Astatic Epilepsy |
|
Epileptic spasm, Bilateral tonic-clonic seizure with generalized onset, Simple febrile seizure, F... |
ORPHA:1942 |
Cat-Eye Syndrome |
|
Microphthalmia, Iris coloboma, Chorioretinal coloboma |
ORPHA:195 |
Developmental Delay With Variable Neurologic And Brain Abnormalities |
|
Microphthalmia, Seizure, Astigmatism, Cataract |
OMIM:619694 |
Bilateral Striopallidodentate Calcinosis |
|
Abnormality of neuronal migration |
ORPHA:1980 |
Developmental And Epileptic Encephalopathy 1 |
|
Infantile spasms, Tonic seizure, Focal-onset seizure, Focal motor seizure, Erratic myoclonus, Gen... |
OMIM:308350 |
Anterior Segment Dysgenesis 3 |
|
Rieger anomaly, Ectopia pupillae, Hypoplastic iris stroma, Axenfeld anomaly, Peters anomaly, Post... |
OMIM:601631 |
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement |
|
Gray matter heterotopia, Type II lissencephaly, Dysgyria |
ORPHA:352682 |
Coloboma, Ocular, Autosomal Dominant |
|
Optic nerve aplasia, Corneal opacity, Remnants of the hyaloid vascular system, Optic disc colobom... |
OMIM:120200 |
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract |
|
Aniridia, Microcornea, Cataract |
OMIM:106230 |
Microphthalmia, Isolated, With Corectopia |
|
Microphthalmia, Ectopia pupillae |
OMIM:156900 |
Microphthalmia, Isolated 8 |
|
Anophthalmia, Optic nerve hypoplasia, Retinal coloboma, Microphthalmia, True anophthalmia |
OMIM:615113 |
Aniridia-Intellectual Disability Syndrome |
|
Aniridia, Cataract, Optic nerve hypoplasia, Ectopia lentis |
ORPHA:1068 |
Cerebrooculofacioskeletal Syndrome 3 |
|
Microphthalmia |
OMIM:616570 |
Congenital Rubella Syndrome |
|
Cataract, Corneal opacity, Aplasia/Hypoplasia of the iris, Seizure, Microphthalmia |
ORPHA:290 |
Symmetrical Thalamic Calcifications |
|
Abnormality of neuronal migration |
ORPHA:1314 |
Persistent Hyperplastic Primary Vitreous |
|
Glial remnants anterior to the optic disc, Hyaloid vascular remnant and retrolental mass, Corneal... |
ORPHA:91495 |
Neurooculocardiogenitourinary Syndrome |
|
Microphthalmia, Seizure, Coloboma, Peters anomaly |
OMIM:618652 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
4-layered lissencephaly, Agenesis of corpus callosum, Abnormality of neuronal migration, Microlis... |
ORPHA:89844 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Cataract, Tonic seizure, Abnormally large globe, Seizure, Coloboma, Microphthalmia |
OMIM:615249 |
Microphthalmia, Isolated, With Coloboma 9 |
|
Macular coloboma, Sclerocornea, Microcornea, Microphthalmia, Ocular anterior segment dysgenesis, ... |
OMIM:615145 |
Maternal Hyperthermia-Induced Birth Defects |
|
Abnormality of neuronal migration |
ORPHA:2216 |
Microphthalmia-Brain Atrophy Syndrome |
|
Generalized-onset seizure, Focal hyperkinetic seizure, Multifocal seizures, Bilateral microphthal... |
ORPHA:77299 |
Baraitser-Winter Syndrome 2 |
|
Microphthalmia, Seizure, Coloboma |
OMIM:614583 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Microcornea, Microphthalmia, Cataract |
ORPHA:48431 |
Kniest Dysplasia |
|
Cataract, Aplasia/Hypoplasia of the lens, Lens luxation |
ORPHA:485 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Cataract, Corneal opacity, Remnants of the hyaloid vascular system, Phthisis bulbi, Leukocoria, B... |
OMIM:221900 |
Temtamy Syndrome |
|
Lens luxation, Ectopia lentis, Seizure, Chorioretinal coloboma, Microphthalmia, Iris coloboma |
OMIM:218340 |
Temtamy Syndrome |
|
Microphthalmia, Iris coloboma, Chorioretinal coloboma |
ORPHA:1777 |
Aniridia 2 |
|
Aniridia, Iris coloboma, Cataract, Lens subluxation |
OMIM:617141 |
Mmep Syndrome |
|
Microphthalmia |
ORPHA:3434 |
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
|
Cataract, Corneal opacity, Myopic astigmatism, Myoclonic seizure, Microcornea, Astigmatism, Micro... |
OMIM:152950 |
Warburg Micro Syndrome 1 |
|
Microcornea, Microphthalmia, Developmental cataract |
OMIM:600118 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Microphthalmia, Developmental cataract |
OMIM:613155 |
3-Hydroxyisobutyric Aciduria |
|
Abnormality of neuronal migration |
OMIM:236795 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Microphthalmia, Cataract, Optic nerve hypoplasia |
OMIM:615181 |
Microphthalmia, Syndromic 8 |
|
Microcornea, Microphthalmia |
OMIM:601349 |
Joubert Syndrome 22 |
|
Microphthalmia, Coloboma |
OMIM:615665 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Microphthalmia, Lens coloboma |
OMIM:618914 |
Adams-Oliver Syndrome 4 |
|
Microphthalmia |
OMIM:615297 |
Cerebrooculofacioskeletal Syndrome 2 |
|
Microphthalmia, Cataract, Developmental cataract |
OMIM:610756 |
Nance-Horan Syndrome |
|
Microcornea, Microphthalmia, Cataract |
ORPHA:627 |
Pierpont Syndrome |
|
Microcornea, Microphthalmia, Seizure |
OMIM:602342 |
Oculocerebrocutaneous Syndrome |
|
Gray matter heterotopia, Agenesis of corpus callosum |
OMIM:164180 |
Chromosome 17Q12 Duplication Syndrome |
|
Microphthalmia, Seizure, Peters anomaly |
OMIM:614526 |
Hsd10 Disease |
|
Seizure, Abnormal social behavior, Myoclonus |
ORPHA:391417 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Microphthalmia, Cataract, Corneal opacity, Coloboma |
OMIM:613153 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Microphthalmia, Cataract |
OMIM:618805 |
Oculogastrointestinal Neurodevelopmental Syndrome |
|
Coloboma, Bilateral microphthalmos, Unilateral microphthalmos |
OMIM:619318 |
Bartsocas-Papas Syndrome 2 |
|
Corneal opacity, Antecubital pterygium, Popliteal pterygium, Microphthalmia, Axillary pterygium |
OMIM:619339 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Microphthalmia |
OMIM:614830 |
11Q22.2Q22.3 Microdeletion Syndrome |
|
Seizure, Abnormal social behavior |
ORPHA:444002 |
Pierpont Syndrome |
|
Microcornea, Microphthalmia |
ORPHA:487825 |
Oculopalatocerebral Syndrome |
|
Microphthalmia, Remnants of the hyaloid vascular system, Leukocoria |
OMIM:257910 |
Hemimegalencephaly |
|
Gray matter heterotopia, Pachygyria, Polymicrogyria |
ORPHA:99802 |
Fryns Microphthalmia Syndrome |
|
Microphthalmia, Anophthalmia |
OMIM:600776 |
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Cataract, Microcornea, Iris transillumination defect, Coloboma, Microphthalmia |
OMIM:617306 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Microphthalmia, Cataract |
ORPHA:93267 |
Lissencephaly 5 |
|
Gray matter heterotopia, Subcortical band heterotopia, Type II lissencephaly |
OMIM:615191 |
Pelvis-Shoulder Dysplasia |
|
Microphthalmia, Optic disc coloboma, Iris coloboma, Opacification of the corneal stroma |
OMIM:169550 |
Brain Small Vessel Disease 2 |
|
Subcortical heterotopia, Polymicrogyria |
OMIM:614483 |
Microphthalmia, Syndromic 12 |
|
Microphthalmia, Anophthalmia |
OMIM:615524 |
Warburg Micro Syndrome 3 |
|
Cataract, Bilateral tonic-clonic seizure, Myoclonic seizure, Microcornea, Developmental cataract,... |
OMIM:614222 |
Cataract 10, Multiple Types |
|
Nuclear cataract, Zonular cataract, Posterior Y-sutural cataract, Developmental cataract |
OMIM:600881 |
3Q29 Microduplication Syndrome |
|
Cataract, Sclerocornea, Seizure, Aniridia, Microphthalmia, Iris coloboma |
ORPHA:251038 |
Rodrigues Blindness |
|
Microcornea, Microphthalmia, Sclerocornea |
OMIM:268320 |
Vitreoretinochoroidopathy |
|
Microcornea, Microphthalmia, Pulverulent cataract, Developmental cataract |
OMIM:193220 |
Phace Syndrome |
|
Cataract, Optic nerve hypoplasia, Sclerocornea, Lens coloboma, Seizure, Microphthalmia, Heterochr... |
ORPHA:42775 |
Norrie Disease |
|
Aplasia/Hypoplasia of the lens, Corneal opacity, Cataract, Sclerocornea, Ectopia lentis, Remnants... |
ORPHA:649 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Cataract, Optic nerve hypoplasia, Abnormality iris morphology, Seizure, Coloboma, Microphthalmia,... |
ORPHA:370959 |
Adams-Oliver Syndrome 2 |
|
Microphthalmia, Seizure, Developmental cataract |
OMIM:614219 |
Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Microphthalmia |
OMIM:615771 |
Warburg Micro Syndrome 4 |
|
Developmental cataract, Microcornea, Seizure, Status epilepticus, Microphthalmia |
OMIM:615663 |
Ectodermal Dysplasia-Blindness Syndrome |
|
Cataract, Corneal dystrophy, Sclerocornea, Microcornea, Keratoconjunctivitis sicca, Microphthalmia |
ORPHA:1806 |
Histiocytoid Cardiomyopathy |
|
Corneal opacity, Seizure, Microphthalmia, Megalocornea, Congenital aphakia |
ORPHA:137675 |
Frontonasal Dysplasia 1 |
|
Microphthalmia, Cataract, Coloboma |
OMIM:136760 |
Edict Syndrome |
|
Keratoconus, Hypoplasia of the iris, Microcornea, Astigmatism, Anterior polar cataract |
OMIM:614303 |
Congenital Toxoplasmosis |
|
Microphthalmia, Seizure |
ORPHA:858 |
Idiopathic Uveal Effusion Syndrome |
|
Microphthalmia, Abnormal anterior eye segment morphology |
ORPHA:209956 |
Congenital Muscular Dystrophy Without Intellectual Disability |
|
Gray matter heterotopia, Pachygyria |
ORPHA:370980 |
Stevenson-Carey Syndrome |
|
Microphthalmia, Seizure, Coloboma |
OMIM:611961 |
Rere-Related Neurodevelopmental Syndrome |
|
Seizure, Astigmatism, Chorioretinal coloboma, Peters anomaly, Microphthalmia, Iris coloboma |
ORPHA:494344 |
Craniotelencephalic Dysplasia |
|
Microphthalmia, Optic nerve hypoplasia |
OMIM:218670 |
Craniotelencephalic Dysplasia |
|
Microphthalmia, Septo-optic dysplasia |
ORPHA:1528 |
Fanconi Anemia, Complementation Group G |
|
Microphthalmia |
OMIM:614082 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Microphthalmia, Seizure |
OMIM:602501 |
Frontofacionasal Dysplasia |
|
Cataract, Brushfield spots, Microcornea, Limbal dermoid, Microphthalmia, Iris coloboma |
ORPHA:1791 |
Childhood Absence Epilepsy |
|
Bilateral tonic-clonic seizure, Typical absence seizure, Limb myoclonus, Febrile seizure (within ... |
ORPHA:64280 |
Nance-Horan Syndrome |
|
Microcornea, Microphthalmia, Posterior Y-sutural cataract, Developmental cataract |
OMIM:302350 |
Cataract 3, Multiple Types |
|
Nuclear pulverulent cataract, Sutural cataract, Cerulean cataract, Developmental cataract |
OMIM:601547 |
Trisomy 13 |
|
Anophthalmia, Cataract, Aplasia/Hypoplasia of the iris, Seizure, Microphthalmia, Iris coloboma |
ORPHA:3378 |
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Abnormality of neuronal migration |
ORPHA:2204 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Microphthalmia, Conjunctival hyperemia, Coloboma |
OMIM:167730 |
Congenital Disorder Of Glycosylation, Type Iq |
|
Microphthalmia, Cataract, Coloboma |
OMIM:612379 |
Xk Aprosencephaly Syndrome |
|
Microphthalmia |
ORPHA:3469 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Anophthalmia, Cataract, Sclerocornea, Microcornea, Coloboma, Ectopia pupillae, Microphthalmia |
OMIM:615877 |
17Q12 Microduplication Syndrome |
|
Microphthalmia, Seizure |
ORPHA:261272 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6 |
|
Pachygyria, Abnormality of neuronal migration |
OMIM:608840 |
Solitary Median Maxillary Central Incisor |
|
Microphthalmia, Cyclopia, Anophthalmia, Coloboma |
OMIM:147250 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Microphthalmia, Seizure, Cataract |
OMIM:214150 |
Gracile Bone Dysplasia |
|
Aniridia, Microphthalmia, Seizure |
OMIM:602361 |
Walker-Warburg Syndrome |
|
Abnormal cortical gyration, Pachygyria, Abnormality of neuronal migration, Macrogyria, Lissenceph... |
ORPHA:899 |
Pyruvate Dehydrogenase E1-Beta Deficiency |
|
Pachygyria, Agenesis of corpus callosum, Periventricular heterotopia |
ORPHA:255138 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Cataract, Corneal opacity, Bilateral microphthalmos, Coloboma, Microphthalmia, Conjunctival hyper... |
ORPHA:2399 |
Periventricular Nodular Heterotopia 1 |
|
Gray matter heterotopia, Abnormality of neuronal migration |
OMIM:300049 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Subcortical heterotopia, Agyria, Partial agenesis of the corpus callosum, Gray matter heterotopia... |
OMIM:614643 |
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Simplified gyral pattern, Gray matter heterotopia, Colpocephaly, Lissencephaly, Agenesis of corpu... |
OMIM:615219 |
Fanconi Anemia, Complementation Group J |
|
Microphthalmia |
OMIM:609054 |
Osteoporosis-Pseudoglioma Syndrome |
|
Microphthalmia, Corneal opacity |
ORPHA:2788 |
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Microphthalmia, Seizure, Optic nerve hypoplasia |
OMIM:614833 |
Acalvaria |
|
Abnormality of neuronal migration |
ORPHA:945 |
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies |
|
Cataract, Seizure, Astigmatism, Retinal coloboma, Microphthalmia |
OMIM:618571 |
Baraitser-Winter Syndrome 1 |
|
Microphthalmia, Seizure, Iris coloboma, Chorioretinal coloboma |
OMIM:243310 |
Weill-Marchesani Syndrome 1 |
|
Shallow anterior chamber, Microspherophakia, Ectopia lentis, Cataract |
OMIM:277600 |
Bresek Syndrome |
|
Microphthalmia, Iris coloboma, Optic nerve hypoplasia |
ORPHA:85284 |
Curry-Jones Syndrome |
|
Microphthalmia, Optic disc coloboma, Iris coloboma |
ORPHA:1553 |
Pseudo-Torch Syndrome 2 |
|
Gray matter heterotopia, Lateral ventricle dilatation, Polymicrogyria |
OMIM:617397 |
Kapur-Toriello Syndrome |
|
Cataract, Seizure, Retinal coloboma, Microphthalmia, Iris coloboma |
OMIM:244300 |
Microphthalmia, Lenz Type |
|
Cataract, Optic disc coloboma, Microcornea, Seizure, Chorioretinal coloboma, Microphthalmia, Iris... |
ORPHA:568 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Microphthalmia, Anophthalmia, Iris coloboma, Sclerocornea |
ORPHA:77298 |
Chiari Malformation Type Ii |
|
Gray matter heterotopia, Agenesis of corpus callosum |
OMIM:207950 |
Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations |
|
Simplified gyral pattern, Periventricular heterotopia |
OMIM:618273 |
Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Microphthalmia, Cataract |
OMIM:614105 |
Ring Chromosome 10 Syndrome |
|
Microphthalmia, Seizure |
ORPHA:1438 |
Leber Congenital Amaurosis |
|
Abnormality of neuronal migration |
ORPHA:65 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Cataract, Peters anomaly, Buphthalmos, Seizure, Persistent pupillary membrane, Microphthalmia |
OMIM:613150 |
Xeroderma Pigmentosum, Complementation Group D |
|
Cataract, Keratitis, Keratoconjunctivitis sicca, Conjunctivitis, Microphthalmia, Corneal neovascu... |
OMIM:278730 |
Weill-Marchesani Syndrome 2 |
|
Iridodonesis, Cataract, Lens luxation, Ectopia lentis, Microspherophakia, Shallow anterior chambe... |
OMIM:608328 |
Micro Syndrome |
|
Cataract, Microcornea, Seizure, Retinal coloboma, Microphthalmia |
ORPHA:2510 |
Encephalocraniocutaneous Lipomatosis |
|
Sclerocornea, Hypoplasia of the iris, Seizure, Limbal dermoid, Microphthalmia |
OMIM:613001 |
Trichothiodystrophy 3, Photosensitive |
|
Microphthalmia, Cataract, Developmental cataract |
OMIM:616395 |
Sandestig-Stefanova Syndrome |
|
Microphthalmia, Developmental cataract |
OMIM:618804 |
Desmosterolosis |
|
Abnormal cortical gyration, Pachygyria, Abnormality of neuronal migration, Macrogyria, Lissenceph... |
ORPHA:35107 |
Meckel Syndrome, Type 8 |
|
Microphthalmia, Anophthalmia |
OMIM:613885 |
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 |
Oculofaciocardiodental Syndrome |
|
Cataract, Ectopia lentis, Microcornea, Microphthalmia, Iris coloboma |
ORPHA:2712 |
Arrhinia-Choanal Atresia-Microphthalmia Syndrome |
|
Microphthalmia |
ORPHA:1135 |
Warburg Micro Syndrome 2 |
|
Microcornea, Microphthalmia, Cataract, Developmental cataract |
OMIM:614225 |
Congenital Disorder Of Deglycosylation 2 |
|
Gray matter heterotopia, Partial agenesis of the corpus callosum, Polymicrogyria, Hypothalamic ha... |
OMIM:619775 |
Microphthalmia, Syndromic 11 |
|
Microphthalmia |
OMIM:614402 |
Kapur-Toriello Syndrome |
|
Microphthalmia, Retinal coloboma, Iris coloboma |
ORPHA:2328 |
Ritscher-Schinzel Syndrome 3 |
|
Microphthalmia, Focal impaired awareness seizure, Chorioretinal coloboma |
OMIM:619135 |
Exudative Vitreoretinopathy 2, X-Linked |
|
Microphthalmia, Shallow anterior chamber |
OMIM:305390 |
Congenital Fibrinogen Deficiency |
|
Microphthalmia, Developmental cataract |
ORPHA:335 |
Phace Association |
|
Microphthalmia, Seizure, Optic nerve hypoplasia, Developmental cataract |
OMIM:606519 |
Pierson Syndrome |
|
Rieger anomaly, Hypoplasia of the ciliary body, Cataract, Remnants of the hyaloid vascular system... |
OMIM:609049 |
Periventricular Nodular Heterotopia 7 |
|
Gray matter heterotopia, Periventricular nodular heterotopia, Polymicrogyria |
OMIM:617201 |
Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Microphthalmia |
OMIM:300887 |
Tetraamelia-Multiple Malformations Syndrome |
|
Septo-optic dysplasia, Cataract, Microcornea, Microphthalmia, Iris coloboma |
ORPHA:3301 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Microphthalmia, Cataract |
ORPHA:163649 |
Stromme Syndrome |
|
Cataract, Optic nerve hypoplasia, Sclerocornea, Microcornea, Peters anomaly, Microphthalmia, Iris... |
OMIM:243605 |
Hartsfield Syndrome |
|
Microphthalmia |
ORPHA:2117 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Ocular anterior segment dysgenesis, Bilateral microphthalmos, Overfriendliness |
ORPHA:369891 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Abnormality of neuronal migration |
ORPHA:2772 |
Cataract 16, Multiple Types |
|
Posterior polar cataract, Lenticonus, Developmental cataract |
OMIM:613763 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Buphthalmos, Microphthalmia, Cataract |
OMIM:616538 |
Hypomelanosis Of Ito |
|
Gray matter heterotopia |
OMIM:300337 |
Braddock-Carey Syndrome 2 |
|
Microphthalmia |
OMIM:619981 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Microcornea, Microphthalmia, Seizure, Cataract |
OMIM:616449 |
Tetrasomy 18P |
|
Abnormality of neuronal migration |
ORPHA:3307 |
Cerebral Palsy, Spastic Quadriplegic, 3 |
|
Gray matter heterotopia |
OMIM:617008 |
Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Microphthalmia |
ORPHA:2547 |
Familial Exudative Vitreoretinopathy |
|
Microphthalmia, Cataract |
ORPHA:891 |
Lamb-Shaffer Syndrome |
|
Seizure, Abnormal social behavior |
ORPHA:530983 |
Papillorenal Syndrome |
|
Cataract, Lens luxation, Optic disc coloboma, Seizure, Retinal coloboma, Microphthalmia |
OMIM:120330 |
Refsum Disease |
|
Microphthalmia, Cataract |
ORPHA:773 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Cataract, Corneal opacity, Optic nerve hypoplasia, Buphthalmos, Seizure, Coloboma, Peters anomaly... |
OMIM:236670 |
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Microphthalmia, Ectopia pupillae, Astigmatism, Cataract |
OMIM:618727 |
Cataract 39, Multiple Types |
|
Lamellar cataract, Anterior polar cataract, Developmental cataract |
OMIM:615188 |
8Q21.11 Microdeletion Syndrome |
|
Cataract, Corneal opacity, Sclerocornea, Microphthalmia, Iris hypopigmentation |
ORPHA:284160 |
Deafness, X-Linked 7 |
|
Unilateral microphthalmos |
OMIM:301018 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Polymicrogyria, Pachygyria, Agenesis of corpus callosum, Abnormality of neuronal migration |
ORPHA:157 |
Frontonasal Dysplasia 3 |
|
Microphthalmia |
OMIM:613456 |
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome |
|
Microphthalmia, Ocular albinism, Myoclonus |
ORPHA:1352 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Microphthalmia, Seizure, Sclerocornea |
OMIM:300952 |
Vici Syndrome |
|
Gray matter heterotopia, Agenesis of corpus callosum |
ORPHA:1493 |
Neonatal Adrenoleukodystrophy |
|
Abnormality of neuronal migration |
ORPHA:44 |
Oculo-Palato-Cerebral Syndrome |
|
Microphthalmia, Cataract, Remnants of the hyaloid vascular system, Leukocoria |
ORPHA:2714 |
Edinburgh Malformation Syndrome |
|
Abnormality of neuronal migration |
ORPHA:1895 |
Cryptophthalmos, Unilateral Or Bilateral, Isolated |
|
Microphthalmia |
OMIM:123570 |
Neuroocular Syndrome |
|
Hypoplasia of the fovea, Cataract, Remnants of the hyaloid vascular system, Brushfield spots, Len... |
OMIM:619539 |
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Microphthalmia, Seizure |
OMIM:618494 |
Seckel Syndrome 2 |
|
Microphthalmia |
OMIM:606744 |
Kenny-Caffey Syndrome, Type 2 |
|
Microphthalmia, Seizure, Developmental cataract |
OMIM:127000 |
Poretti-Boltshauser Syndrome |
|
Gray matter heterotopia |
OMIM:615960 |
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Seizure, Iris coloboma, Unilateral microphthalmos |
OMIM:618874 |
Joubert Syndrome 30 |
|
Gray matter heterotopia |
OMIM:617622 |
Early-Onset Autosomal Dominant Alzheimer Disease |
|
Seizure, Abnormal social behavior, Myoclonus |
ORPHA:1020 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Microphthalmia, Febrile seizure (within the age range of 3 months to 6 years), Seizure |
ORPHA:404440 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Focal motor seizure, Microcornea, Seizure, Astigmatism, Macular hypoplasia, Febrile seizure (with... |
ORPHA:1675 |
Adams-Oliver Syndrome |
|
Microphthalmia, Seizure, Cataract |
ORPHA:974 |
Trichothiodystrophy 4, Nonphotosensitive |
|
Microcornea, Microphthalmia, Keratoconjunctivitis sicca |
OMIM:234050 |
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome |
|
Interhypothalamic adhesion, Agenesis of corpus callosum, Periventricular heterotopia |
OMIM:618929 |
Frontorhiny |
|
Microphthalmia, Cataract, Iris coloboma |
ORPHA:391474 |
Mend Syndrome |
|
Abnormal social behavior, Microphthalmia, Seizure, Cataract |
ORPHA:401973 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Cataract, Sclerocornea, Seizure, Peters anomaly, Microphthalmia, Iris coloboma |
OMIM:309801 |
Fanconi Anemia, Complementation Group I |
|
Microphthalmia, Astigmatism, Optic nerve hypoplasia |
OMIM:609053 |
3P25.3 Microdeletion Syndrome |
|
Generalized myoclonic seizure, Microphthalmia, Bilateral tonic-clonic seizure, Generalized non-mo... |
ORPHA:435638 |
Linear Nevus Sebaceus Syndrome |
|
Microphthalmia, Seizure, Iris coloboma |
ORPHA:2612 |
Intellectual Developmental Disorder, X-Linked 12 |
|
Abnormality of neuronal migration |
OMIM:300957 |
X-Linked Dominant Chondrodysplasia Punctata |
|
Microcornea, Microphthalmia, Cataract |
ORPHA:35173 |
Subaortic Stenosis-Short Stature Syndrome |
|
Microphthalmia |
ORPHA:3191 |
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
|
Colpocephaly, Periventricular heterotopia |
OMIM:619833 |
Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Abnormal cortical gyration, Pachygyria, Abnormality of neuronal migration, Macrogyria, Lissenceph... |
ORPHA:2211 |
Atelis Syndrome 2 |
|
Microphthalmia, Seizure, Remnants of the hyaloid vascular system, Developmental cataract |
OMIM:620185 |
Li-Ghorbani-Weisz-Hubshman Syndrome |
|
Periventricular heterotopia |
OMIM:618974 |
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome |
|
Microphthalmia, Seizure, Iris coloboma |
ORPHA:1236 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Microcornea, Microphthalmia, Cataract, Persistent pupillary membrane |
OMIM:257850 |
Joubert Syndrome 14 |
|
Microphthalmia, Coloboma |
OMIM:614424 |
Xeroderma Pigmentosum, Complementation Group B |
|
Microphthalmia, Cataract |
OMIM:610651 |
Thanatophoric Dysplasia Type 2 |
|
Abnormality of neuronal migration |
ORPHA:93274 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Corneal opacity, Coloboma, Ectopia pupillae, Lens subluxation, Microphthalmia |
ORPHA:85167 |
Heart And Brain Malformation Syndrome |
|
Microphthalmia, Seizure |
OMIM:616920 |
1Q21.1 Microdeletion Syndrome |
|
Microphthalmia, Seizure, Iris coloboma, Cataract |
ORPHA:250989 |
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, 4 |
|
Microphthalmia, Seizure, Cataract |
OMIM:253800 |
Multiple Benign Circumferential Skin Creases On Limbs |
|
Microcornea, Microphthalmia |
ORPHA:2505 |
Joubert Syndrome 37 |
|
Microphthalmia |
OMIM:619185 |
Radio-Tartaglia Syndrome |
|
Gray matter heterotopia, Agenesis of corpus callosum |
OMIM:619312 |
Acro-Renal-Ocular Syndrome |
|
Cataract, Optic disc hypoplasia, Optic disc coloboma, Microcornea, Coloboma, Chorioretinal colobo... |
ORPHA:959 |
Microphthalmia, Syndromic 3 |
|
Optic nerve aplasia, Anophthalmia, Cataract, Optic nerve hypoplasia, Sclerocornea, Coloboma, Micr... |
OMIM:206900 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Polymicrogyria, Pachygyria, Agenesis of corpus callosum, Abnormality of neuronal migration |
ORPHA:228308 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Microphthalmia, Seizure, Hypocalcemic seizures |
OMIM:241410 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Microphthalmia, Anophthalmia, Iris coloboma, Cataract |
ORPHA:2250 |
Galloway-Mowat Syndrome 1 |
|
Cataract, Hypoplasia of the iris, Seizure, Opacification of the corneal stroma, Microphthalmia |
OMIM:251300 |
Martsolf Syndrome 1 |
|
Microphthalmia, Cataract, Developmental cataract |
OMIM:212720 |
Monosomy 18P |
|
Microphthalmia |
ORPHA:1598 |
Joubert Syndrome 2 |
|
Microphthalmia, Seizure, Chorioretinal coloboma, Optic disc coloboma |
OMIM:608091 |
Trichothiodystrophy 1, Photosensitive |
|
Microcornea, Microphthalmia, Keratoconjunctivitis sicca, Cataract |
OMIM:601675 |
16P13.11 Microdeletion Syndrome |
|
Agenesis of corpus callosum, Abnormality of neuronal migration |
ORPHA:261236 |
Chromosome 8Q21.11 Deletion Syndrome |
|
Microphthalmia, Cataract, Sclerocornea |
OMIM:614230 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Polymicrogyria, Agenesis of corpus callosum, Abnormality of neuronal migration |
OMIM:608836 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Microphthalmia |
OMIM:300863 |
Hydrolethalus |
|
Microphthalmia, Anophthalmia |
ORPHA:2189 |
6Q Terminal Deletion Syndrome |
|
Periventricular heterotopia, Abnormality of neuronal migration, Gray matter heterotopia, Colpocep... |
ORPHA:75857 |
Marden-Walker Syndrome |
|
Microphthalmia, Seizure |
OMIM:248700 |
Moebius Syndrome |
|
Microphthalmia |
OMIM:157900 |
Fragile X Syndrome |
|
Periventricular heterotopia |
OMIM:300624 |
Meckel Syndrome, Type 5 |
|
Microphthalmia |
OMIM:611561 |
Acrofrontofacionasal Dysostosis 1 |
|
Microphthalmia, Seizure, Iris atrophy |
OMIM:201180 |
2Q31.1 Microdeletion Syndrome |
|
Optic disc coloboma, Seizure, Coloboma, Microphthalmia, Iris coloboma |
ORPHA:251014 |
Fanconi Anemia, Complementation Group S |
|
Microphthalmia |
OMIM:617883 |
Thanatophoric Dysplasia |
|
Gray matter heterotopia |
ORPHA:2655 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 10 |
|
Microphthalmia |
OMIM:619053 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Microcornea, Microphthalmia, Seizure, Developmental cataract |
ORPHA:464738 |
Osteoporosis-Pseudoglioma Syndrome |
|
Iris atrophy, Cataract, Phthisis bulbi, Focal impaired awareness seizure, Absent anterior chamber... |
OMIM:259770 |
Osteopetrosis, Autosomal Recessive 8 |
|
Unilateral microphthalmos |
OMIM:615085 |
Sponastrime Dysplasia |
|
Microcoria, Cataract, Congenital aphakia |
ORPHA:93357 |
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies |
|
Microphthalmia, Seizure |
OMIM:620098 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Corneal opacity, Focal-onset seizure, Polycoria, Developmental cataract, Hypoplasia of the iris, ... |
OMIM:175780 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Cataract, Buphthalmos, Seizure, Hypoplasia of the retina, Coloboma, Myoclonus, Opacification of t... |
OMIM:253280 |
Chromosome 1Q41-Q42 Deletion Syndrome |
|
Microphthalmia, Seizure |
OMIM:612530 |
Skin Creases, Congenital Symmetric Circumferential, 1 |
|
Microcornea, Microphthalmia |
OMIM:156610 |
Neu-Laxova Syndrome |
|
Abnormal cortical gyration, Pachygyria, Abnormality of neuronal migration, Macrogyria, Lissenceph... |
ORPHA:2671 |
Incontinentia Pigmenti |
|
Hypoplasia of the fovea, Cataract, Keratitis, Seizure, Microphthalmia |
OMIM:308300 |
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Microphthalmia |
ORPHA:228390 |
3Q29 Microdeletion Syndrome |
|
Microphthalmia, Cataract |
ORPHA:65286 |
Steinfeld Syndrome |
|
Microphthalmia, Retinal coloboma, Iris coloboma |
OMIM:184705 |
Hallermann-Streiff Syndrome |
|
Cataract, Bilateral tonic-clonic seizure, Optic disc coloboma, Chorioretinal coloboma, Microphtha... |
OMIM:234100 |
Cohen Syndrome |
|
Microphthalmia, Seizure, Iris coloboma |
ORPHA:193 |
Periventricular Nodular Heterotopia |
|
Periventricular heterotopia |
ORPHA:98892 |
Oculotrichoanal Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2717 |
Duane-Radial Ray Syndrome |
|
Cataract, Optic disc hypoplasia, Retinal coloboma, Microphthalmia, Iris coloboma |
OMIM:607323 |
Momo Syndrome |
|
Seizure, Bilateral microphthalmos, Chorioretinal coloboma |
ORPHA:2563 |
Cerebrofacioarticular Syndrome |
|
Gray matter heterotopia, Dysplastic corpus callosum, Agenesis of corpus callosum |
ORPHA:314679 |
Focal Dermal Hypoplasia |
|
Corneal opacity, Ectopia lentis, Hypoplasia of the iris, Chorioretinal coloboma, Microphthalmia, ... |
ORPHA:2092 |
Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Microcornea, Microphthalmia |
OMIM:110100 |
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome |
|
Abnormality of neuronal migration |
ORPHA:2518 |
Lymphedema-Distichiasis Syndrome |
|
Microphthalmia, Corneal ulceration, Conjunctivitis, Recurrent corneal erosions |
OMIM:153400 |
Pelvis-Shoulder Dysplasia |
|
Microcornea, Bilateral microphthalmos, Retinal coloboma, Iris coloboma |
ORPHA:2839 |
Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Microphthalmia, Cataract |
OMIM:302960 |
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
Bilateral microphthalmos, Optic nerve hypoplasia |
OMIM:607597 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Microphthalmia |
ORPHA:163966 |
Microcephaly 20, Primary, Autosomal Recessive |
|
Microphthalmia, Optic nerve hypoplasia |
OMIM:617914 |
Fryns Syndrome |
|
Microphthalmia, Seizure, Corneal opacity |
ORPHA:2059 |
Monosomy 9Q22.3 |
|
Microphthalmia, Seizure, Cataract |
ORPHA:77301 |
Trichothiodystrophy |
|
Generalized-onset seizure, Bilateral microphthalmos, Developmental cataract, Microcornea, Keratoc... |
ORPHA:33364 |
Incontinentia Pigmenti |
|
Cataract, Corneal opacity, Keratitis, Seizure, Microphthalmia |
ORPHA:464 |
Microphthalmia With Limb Anomalies |
|
Microphthalmia, Anophthalmia |
OMIM:206920 |
Van Maldergem Syndrome 1 |
|
Subcortical band heterotopia, Simplified gyral pattern, Gray matter heterotopia, Periventricular ... |
OMIM:601390 |
Mycophenolate Mofetil Embryopathy |
|
Microphthalmia, Iris coloboma, Chorioretinal coloboma |
ORPHA:268249 |
Proboscis Lateralis |
|
Anophthalmia, Corneal opacity, Optic nerve hypoplasia, Cataract, Optic disc coloboma, Microcornea... |
ORPHA:141099 |
Frontofacionasal Dysplasia |
|
Microcornea, Microphthalmia, Cataract, Iris coloboma |
OMIM:229400 |
16Q24.3 Microdeletion Syndrome |
|
Colpocephaly, Periventricular heterotopia |
ORPHA:261250 |
Joubert Syndrome |
|
Polymicrogyria, Abnormality of neuronal migration |
ORPHA:475 |
Neurocutaneous Melanocytosis |
|
Abnormality of neuronal migration |
ORPHA:2481 |
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome |
|
Abnormality of neuronal migration |
ORPHA:2063 |
Oculodentodigital Dysplasia |
|
Microcornea, Microphthalmia, Seizure, Cataract |
OMIM:164200 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Agenesis of corpus callosum, Periventricular heterotopia |
OMIM:618476 |
Trisomy 18 |
|
Cataract, Microcornea, Microphthalmia, Cyclopia, Iris coloboma |
ORPHA:3380 |
Aicardi Syndrome |
|
Epileptic spasm, Cataract, Infantile spasms, Optic disc coloboma, Seizure, Microphthalmia |
OMIM:304050 |
Meckel Syndrome, Type 2 |
|
Microphthalmia |
OMIM:603194 |
Mismatch Repair Cancer Syndrome 1 |
|
Gray matter heterotopia, Agenesis of corpus callosum |
OMIM:276300 |
Matthew-Wood Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2470 |
Neuromuscular Oculoauditory Syndrome |
|
Agenesis of corpus callosum, Periventricular heterotopia |
OMIM:618733 |
Galloway-Mowat Syndrome |
|
Pachygyria, Abnormality of neuronal migration |
ORPHA:2065 |
Pseudotrisomy 13 Syndrome |
|
Microphthalmia, Cyclopia |
OMIM:264480 |
Fg Syndrome Type 1 |
|
Seizure, Abnormal social behavior, Optic nerve hypoplasia |
ORPHA:93932 |
3C Syndrome |
|
Abnormality of neuronal migration |
ORPHA:7 |
Fetal Alcohol Syndrome |
|
Microphthalmia |
ORPHA:1915 |
Man1B1-Cdg |
|
Periventricular heterotopia |
ORPHA:397941 |
Fanconi Anemia, Complementation Group R |
|
Microphthalmia |
OMIM:617244 |
Bohring-Opitz Syndrome |
|
Gray matter heterotopia, Agenesis of corpus callosum |
OMIM:605039 |
Jacobsen Syndrome |
|
Microcornea, Macular hypoplasia, Chorioretinal coloboma, Microphthalmia, Iris coloboma |
OMIM:147791 |
Curry-Jones Syndrome |
|
Microphthalmia, Iris coloboma |
OMIM:601707 |
Metachromatic Leukodystrophy, Late Infantile Form |
|
Seizure, Abnormal social behavior |
ORPHA:309256 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Microphthalmia, Seizure |
OMIM:619148 |
Cat Eye Syndrome |
|
Microphthalmia, Iris coloboma, Chorioretinal coloboma |
OMIM:115470 |
48,Xxxy Syndrome |
|
Seizure, Abnormal social behavior |
ORPHA:96263 |
Vacterl With Hydrocephalus |
|
Microcornea, Microphthalmia, Anophthalmia |
ORPHA:3412 |
Meckel Syndrome, Type 4 |
|
Microphthalmia |
OMIM:611134 |
Manitoba Oculotrichoanal Syndrome |
|
Microphthalmia, Anophthalmia |
OMIM:248450 |
Metachromatic Leukodystrophy, Juvenile Form |
|
Seizure, Abnormal social behavior |
ORPHA:309263 |
Mosaic Variegated Aneuploidy Syndrome |
|
Microphthalmia, Seizure, Corneal opacity, Cataract |
ORPHA:1052 |
Meckel Syndrome |
|
Anophthalmia, Cataract, Sclerocornea, Aplasia/Hypoplasia of the iris, Microcornea, Microphthalmia |
ORPHA:564 |
Cockayne Syndrome Type 3 |
|
Cataract, Microcornea, Seizure, Keratoconjunctivitis sicca, Lentiglobus, Microphthalmia, Corneal ... |
ORPHA:90324 |
Acromelic Frontonasal Dysostosis |
|
Gray matter heterotopia, Periventricular nodular heterotopia, Agenesis of corpus callosum |
OMIM:603671 |
Peroxisome Biogenesis Disorder 13A (Zellweger) |
|
Gray matter heterotopia, Polymicrogyria |
OMIM:614887 |
Alkuraya-Kucinskas Syndrome |
|
Gray matter heterotopia, Lissencephaly |
OMIM:617822 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Anophthalmia, Cataract, Seizure, Status epilepticus, Microphthalmia |
ORPHA:2526 |
Mosaic Trisomy 1 |
|
Microphthalmia, Opacification of the corneal stroma |
ORPHA:1692 |
Holoprosencephaly |
|
Anophthalmia, Seizure, Chorioretinal coloboma, Microphthalmia, Cyclopia, Iris coloboma |
ORPHA:2162 |
Mosaic Trisomy 9 |
|
Microphthalmia, Corneal opacity |
ORPHA:99776 |
Dubowitz Syndrome |
|
Hypoplasia of the iris, Microphthalmia, Megalocornea, Iris coloboma |
OMIM:223370 |
Premature Aging Syndrome, Penttinen Type |
|
Corneal stromal edema, Microphthalmia, Corneal opacity |
OMIM:601812 |
Monosomy 13Q14 |
|
Microphthalmia, Cataract, Iris coloboma |
ORPHA:1587 |
9Q21.13 Microdeletion Syndrome |
|
Gray matter heterotopia |
ORPHA:531151 |
Rothmund-Thomson Syndrome, Type 2 |
|
Microcornea, Microphthalmia, Cataract, Zonular cataract |
OMIM:268400 |
Joubert Syndrome With Oculorenal Defect |
|
Abnormality of neuronal migration |
ORPHA:2318 |
Bosma Arhinia Microphthalmia Syndrome |
|
Microphthalmia, Cataract, Coloboma |
OMIM:603457 |
Cockayne Syndrome B |
|
Developmental cataract, Hypoplasia of the iris, Seizure, Microcornea, Opacification of the cornea... |
OMIM:133540 |
Basal Cell Nevus Syndrome 1 |
|
Microphthalmia, Cataract, Iris coloboma |
OMIM:109400 |
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Microphthalmia, Corneal opacity |
ORPHA:364577 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Microphthalmia, Seizure, Coloboma, Peters anomaly |
OMIM:616975 |
Galloway-Mowat Syndrome 3 |
|
Microphthalmia, Seizure |
OMIM:617729 |
Holoprosencephaly 14 |
|
Gray matter heterotopia, Partial agenesis of the corpus callosum, Periventricular heterotopia |
OMIM:619895 |
Aicardi Syndrome |
|
Microphthalmia, Optic disc coloboma, Infantile spasms, Chorioretinal coloboma |
ORPHA:50 |
Genitourinary And/Or Brain Malformation Syndrome |
|
Dysplastic corpus callosum, Gray matter heterotopia, Colpocephaly, Polymicrogyria, Agenesis of co... |
OMIM:618820 |
Coffin-Lowry Syndrome |
|
Abnormality of neuronal migration |
ORPHA:192 |
Prader-Willi Syndrome Due To Translocation |
|
Abnormal social behavior, Seizure, Impaired social interactions, Stellate iris, Iris hypopigmenta... |
ORPHA:177907 |
Cerebrooculofacioskeletal Syndrome 4 |
|
Bilateral microphthalmos |
OMIM:610758 |
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Microphthalmia |
ORPHA:2728 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Periventricular heterotopia, Pachygyria, Simplified gyral pattern, Lissencephaly, Polymicrogyria,... |
ORPHA:468631 |
Thanatophoric Dysplasia, Type I |
|
Gray matter heterotopia |
OMIM:187600 |
Alg11-Cdg |
|
Gray matter heterotopia |
ORPHA:280071 |
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation |
|
Gray matter heterotopia |
OMIM:618797 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Abnormality of neuronal migration |
ORPHA:163681 |
Ohdo Syndrome, X-Linked |
|
Microphthalmia, Seizure |
OMIM:300895 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Microphthalmia, Cyclopia, Iris coloboma |
ORPHA:3186 |
Holoprosencephaly 1 |
|
Microphthalmia, Cyclopia, Seizure |
OMIM:236100 |
Thanatophoric Dysplasia Type 1 |
|
Gray matter heterotopia |
ORPHA:1860 |
Cousin Syndrome |
|
Microcornea, Microphthalmia |
OMIM:260660 |
Orofaciodigital Syndrome Xvi |
|
Gray matter heterotopia |
OMIM:617563 |
Orofaciodigital Syndrome Type 6 |
|
Abnormality of neuronal migration, Hypothalamic hamartoma |
ORPHA:2754 |
Miller-Dieker Lissencephaly Syndrome |
|
Gray matter heterotopia, Pachygyria, Lissencephaly, Agyria |
OMIM:247200 |
Microphthalmia, Syndromic 2 |
|
Anophthalmia, Remnants of the hyaloid vascular system, Phthisis bulbi, Developmental cataract, Mi... |
OMIM:300166 |
Holoprosencephaly 2 |
|
Remnants of the hyaloid vascular system, Seizure, Chorioretinal coloboma, Microphthalmia, Cyclopi... |
OMIM:157170 |
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia |
|
Gray matter heterotopia |
OMIM:608624 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Optic nerve hypoplasia, Coloboma, Retinal coloboma, Microphthalmia, Iris coloboma |
ORPHA:508498 |
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
|
Periventricular heterotopia |
OMIM:618870 |
Holoprosencephaly 7 |
|
Microphthalmia, Bilateral microphthalmos, Iris coloboma, Seizure |
OMIM:610828 |
Cockayne Syndrome |
|
Cataract, Band keratopathy, Developmental cataract, Seizure, Abnormal cornea morphology, Lentiglo... |
ORPHA:191 |
Autosomal Dominant Kenny-Caffey Syndrome |
|
Bilateral microphthalmos, Hypocalcemic seizures, Developmental cataract |
ORPHA:93325 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Anophthalmia, Corneal opacity, Sclerocornea, Seizure, Status epilepticus, Microphthalmia, Posteri... |
ORPHA:2556 |
Van Maldergem Syndrome 2 |
|
Gray matter heterotopia, Periventricular nodular heterotopia, Subcortical band heterotopia |
OMIM:615546 |
Frontonasal Dysplasia 2 |
|
Microphthalmia |
OMIM:613451 |
Orofaciodigital Syndrome I |
|
Gray matter heterotopia, Agenesis of corpus callosum, Abnormal cortical gyration, Hypothalamic ha... |
OMIM:311200 |
Opitz-Kaveggia Syndrome |
|
Gray matter heterotopia, Partial agenesis of the corpus callosum |
OMIM:305450 |
Metachromatic Leukodystrophy, Adult Form |
|
Seizure, Abnormal social behavior |
ORPHA:309271 |
Hallermann-Streiff Syndrome |
|
Microphthalmia, Developmental cataract |
ORPHA:2108 |
Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Microphthalmia, Cyclopia |
ORPHA:2166 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Gray matter heterotopia |
ORPHA:26791 |
Microcephaly-Micromelia Syndrome |
|
Microphthalmia |
OMIM:251230 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Generalized-onset seizure, Focal hemiclonic seizure, Focal-onset seizure, Developmental cataract,... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Generalized-onset seizure, Focal hemiclonic seizure, Focal-onset seizure, Developmental cataract,... |
ORPHA:363958 |
Treacher-Collins Syndrome |
|
Microphthalmia, Cataract, Iris coloboma |
ORPHA:861 |
Bartsocas-Papas Syndrome 1 |
|
Popliteal pterygium, Opacification of the corneal stroma, Microphthalmia, Pterygium, Corneal ulce... |
OMIM:263650 |
Lowe Oculocerebrorenal Syndrome |
|
Corneal scarring, Developmental cataract, Seizure, Microphthalmia, Dense posterior cortical cataract |
OMIM:309000 |
Oculocerebrorenal Syndrome Of Lowe |
|
Cataract, Corneal opacity, Abnormal pupil morphology, Buphthalmos, Seizure, Lentiglobus, Micropht... |
ORPHA:534 |
Skin Creases, Congenital Symmetric Circumferential, 2 |
|
Microcornea, Microphthalmia, Seizure |
OMIM:616734 |
Renpenning Syndrome 1 |
|
Microphthalmia, Seizure, Coloboma, Cataract |
OMIM:309500 |
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities |
|
Gray matter heterotopia, Frontal polymicrogyria, Pachygyria |
OMIM:620024 |
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Microphthalmia, Cataract |
ORPHA:306542 |
Joubert Syndrome With Hepatic Defect |
|
Abnormality of neuronal migration |
ORPHA:1454 |
Chromosome 13Q14 Deletion Syndrome |
|
Microphthalmia, Iris coloboma, Chorioretinal coloboma |
OMIM:613884 |
Myhre Syndrome |
|
Microphthalmia, Seizure, Cataract |
OMIM:139210 |
Pallister-Hall Syndrome |
|
Microphthalmia, Seizure |
OMIM:146510 |
Ventriculomegaly With Cystic Kidney Disease |
|
Gray matter heterotopia |
OMIM:219730 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Gray matter heterotopia, Polymicrogyria |
OMIM:214100 |
Tetraamelia Syndrome 1 |
|
Microphthalmia, Cataract |
OMIM:273395 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Abnormal cortical gyration, Partial agenesis of the corpus callosum, Microlissencephaly, Gray mat... |
OMIM:210710 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Microphthalmia, Cataract |
OMIM:620005 |
Vici Syndrome |
|
Gray matter heterotopia, Agenesis of corpus callosum |
OMIM:242840 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Gray matter heterotopia, Agenesis of corpus callosum, Type II lissencephaly |
OMIM:615287 |
Fanconi Anemia, Complementation Group F |
|
Microphthalmia |
OMIM:603467 |
Meckel Syndrome 14 |
|
Microphthalmia |
OMIM:619879 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Cataract, Bilateral tonic-clonic seizure, Sutural cataract, Nuclear pulverulent cataract, General... |
OMIM:612474 |
Holoprosencephaly 9 |
|
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, Seizure |
OMIM:610829 |
Fryns Syndrome |
|
Microphthalmia, Seizure, Opacification of the corneal stroma |
OMIM:229850 |
Fanconi Anemia, Complementation Group E |
|
Microphthalmia |
OMIM:600901 |
Roberts Syndrome |
|
Microphthalmia, Cataract |
ORPHA:3103 |
Bilateral Perisylvian Polymicrogyria |
|
Perisylvian predominant thick cortex pachygyria, Abnormality of neuronal migration, Bilateral per... |
ORPHA:98889 |
22Q11.2 Deletion Syndrome |
|
Cataract, Seizure, Microphthalmia, Posterior embryotoxon, Corneal neovascularization |
ORPHA:567 |
Koolen-De Vries Syndrome |
|
Gray matter heterotopia |
OMIM:610443 |
Mowat-Wilson Syndrome |
|
Cataract, Microcornea, Seizure, Ectopia pupillae, Chorioretinal coloboma, Microphthalmia, Iris co... |
OMIM:235730 |
Fanconi Anemia, Complementation Group A |
|
Microphthalmia |
OMIM:227650 |
Fanconi Anemia |
|
Aplasia/Hypoplasia of the iris, Microphthalmia, Astigmatism, Cataract |
ORPHA:84 |
Teebi-Shaltout Syndrome |
|
Microphthalmia |
OMIM:272950 |
Tuberous Sclerosis Complex |
|
Epileptic spasm, Infantile spasms, Focal-onset seizure, Seizure, Status epilepticus, Abnormal soc... |
ORPHA:805 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Microphthalmia |
OMIM:616300 |
Isolated Arrhinia |
|
Microphthalmia |
ORPHA:1134 |
Fanconi Anemia, Complementation Group C |
|
Microphthalmia |
OMIM:227645 |
Periventricular Nodular Heterotopia 9 |
|
Gray matter heterotopia, Periventricular nodular heterotopia, Polymicrogyria |
OMIM:618918 |
Monosomy 9P |
|
Microphthalmia, Seizure |
ORPHA:261112 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Gray matter heterotopia, Agenesis of corpus callosum |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Gray matter heterotopia, Agenesis of corpus callosum |
ORPHA:352665 |
Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Microphthalmia, Corneal opacity |
OMIM:608670 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Microphthalmia, Optic disc coloboma, Iris coloboma |
OMIM:620186 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Abnormality of neuronal migration |
ORPHA:464311 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Gray matter heterotopia |
ORPHA:453499 |
Focal Dermal Hypoplasia |
|
Anophthalmia, Ectopia lentis, Chorioretinal coloboma, Aniridia, Microphthalmia, Iris coloboma |
OMIM:305600 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Popliteal pterygium, Microphthalmia, Antecubital pterygium |
OMIM:609945 |
Charge Syndrome |
|
Microphthalmia, Anophthalmia, Iris coloboma, Chorioretinal coloboma |
ORPHA:138 |
Microphthalmia, Syndromic 9 |
|
Anophthalmia, Bilateral microphthalmos |
OMIM:601186 |
Fanconi Anemia, Complementation Group L |
|
Microphthalmia |
OMIM:614083 |
Meckel Syndrome, Type 1 |
|
Microphthalmia, Iris coloboma |
OMIM:249000 |
Yunis-Varon Syndrome |
|
Microphthalmia, Bilateral microphthalmos, Sclerocornea, Cataract |
ORPHA:3472 |
Niemann-Pick Disease Type C |
|
Generalized-onset seizure, Focal-onset seizure, Seizure, Status epilepticus, Myoclonus, Abnormal ... |
ORPHA:646 |
Fanconi Anemia, Complementation Group D2 |
|
Microphthalmia |
OMIM:227646 |
Microgastria-Limb Reduction Defect Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2538 |
Fraser Syndrome 2 |
|
Microphthalmia |
OMIM:617666 |
Branchiooculofacial Syndrome |
|
Anophthalmia, Cataract, Seizure, Retinal coloboma, Microphthalmia, Iris coloboma |
OMIM:113620 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Microphthalmia |
OMIM:617925 |
Hydrolethalus Syndrome 1 |
|
Gray matter heterotopia, Agenesis of corpus callosum, Abnormal cortical gyration |
OMIM:236680 |
Microphthalmia, Syndromic 6 |
|
Anophthalmia, Sclerocornea, Microcornea, Coloboma, Microphthalmia |
OMIM:607932 |
Adams-Oliver Syndrome 1 |
|
Microphthalmia, Seizure |
OMIM:100300 |
Microphthalmia With Limb Anomalies |
|
Microphthalmia, True anophthalmia |
ORPHA:1106 |
Orofaciodigital Syndrome Xiv |
|
Partial agenesis of the corpus callosum, Polymicrogyria, Simplified gyral pattern, Periventricula... |
OMIM:615948 |
Witteveen-Kolk Syndrome |
|
Cataract, Anisocoria, Seizure, Microphthalmia, Iris coloboma |
OMIM:613406 |
Mowat-Wilson Syndrome |
|
Cataract, Focal-onset seizure, Seizure, Astigmatism, Status epilepticus, Axenfeld anomaly, Atypic... |
ORPHA:2152 |
Neu-Laxova Syndrome 1 |
|
Microphthalmia, Pterygium, Cataract |
OMIM:256520 |
Non-Progressive Cerebellar Ataxia With Intellectual Disability |
|
Abnormal social behavior, Focal myoclonic seizure |
ORPHA:314647 |
Charge Syndrome |
|
Anophthalmia, Cataract, Unilateral microphthalmos, Coloboma, Retinal coloboma, Microphthalmia, Ir... |
OMIM:214800 |
Fraser Syndrome 1 |
|
Seizure, Anophthalmia, Corneal opacity, Bilateral microphthalmos |
OMIM:219000 |
Nijmegen Breakage Syndrome |
|
Abnormality of neuronal migration |
ORPHA:647 |
Microphthalmia, Syndromic 1 |
|
Anophthalmia, Optic disc coloboma, Microcornea, Seizure, Ciliary body coloboma, Chorioretinal col... |
OMIM:309800 |
Townes-Brocks Syndrome |
|
Cataract, Chorioretinal coloboma, Limbal dermoid, Microphthalmia, Iris coloboma |
ORPHA:857 |
Smith-Lemli-Opitz Syndrome |
|
Partial agenesis of the corpus callosum, Colpocephaly, Periventricular heterotopia |
OMIM:270400 |
Genitopatellar Syndrome |
|
Colpocephaly, Pachygyria, Agenesis of corpus callosum, Periventricular heterotopia |
OMIM:606170 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Iris atrophy, Cataract, Focal-onset seizure, Abnormal pupil morphology, Microcornea, Seizure, Ect... |
ORPHA:261552 |
Williams Syndrome |
|
Posterior embryotoxon, Cataract, Flat cornea, Corneal opacity, Blue irides, Aplasia/Hypoplasia of... |
ORPHA:904 |
Degcags Syndrome |
|
Microphthalmia |
OMIM:619488 |
Orofaciodigital Syndrome Type 14 |
|
Partial agenesis of the corpus callosum, Periventricular heterotopia |
ORPHA:434179 |
Pagod Syndrome |
|
Abnormality of neuronal migration |
ORPHA:991 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Cataract, Focal-onset seizure, Seizure, Astigmatism, Retinal coloboma, Axenfeld anomaly, Atypical... |
ORPHA:261537 |
Fontaine Progeroid Syndrome |
|
Microphthalmia |
OMIM:612289 |
Pallister-Hall Syndrome |
|
Microphthalmia, Paroxysmal bursts of laughter, Focal emotional seizure with laughing |
ORPHA:672 |
8Q24.3 Microdeletion Syndrome |
|
Seizure, Bilateral microphthalmos, Retinal coloboma, Optic nerve hypoplasia |
ORPHA:508488 |
Arima Syndrome |
|
Gray matter heterotopia |
OMIM:243910 |
Roberts-Sc Phocomelia Syndrome |
|
Cataract, Corneal opacity, Coloboma, Opacification of the corneal stroma, Microphthalmia |
OMIM:268300 |
Fraser Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2052 |
Treacher Collins Syndrome 1 |
|
Bilateral microphthalmos |
OMIM:154500 |
Proteus Syndrome |
|
Gray matter heterotopia |
ORPHA:744 |
Craniofacial Microsomia 1 |
|
Limbal dermoid, Microphthalmia, Anophthalmia |
OMIM:164210 |