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Gene: Sox1 MGI:98357

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
SRY (sex determining region Y)-box 1
Synonyms:
Sox-1

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Sox1 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Sox1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Anterior Segment Dysgenesis 8
Cataract, Ectopia lentis, Ectopia pupillae, Hypoplasia of the iris, Uveal ectropion, Corneal stro... OMIM:617319
Microphthalmia, Isolated, With Cataract 1
Cataract, Microphthalmia OMIM:156850
Microphthalmia/Coloboma 4
Microcornea, Coloboma, Microphthalmia OMIM:251505
Sub-Cortical Nodular Heterotopia
Abnormality of neuronal migration, Polymicrogyria, Subcortical heterotopia, Agenesis of corpus ca... ORPHA:101029
Lissencephaly, X-Linked, 1
Agenesis of corpus callosum, Pachygyria, Agyria, Gray matter heterotopia, Lissencephaly OMIM:300067
Microphthalmia/Coloboma 10
Chorioretinal coloboma, Anophthalmia, Microcoria, Microphthalmia, Iris coloboma OMIM:616428
Microphthalmia/Coloboma 3
Cataract, Iris coloboma, Microphthalmia OMIM:610092
Lissencephaly 3
Polymicrogyria, Periventricular laminar heterotopia, Agenesis of corpus callosum, Pachygyria, Agy... OMIM:611603
Cortical Dysplasia, Complex, With Other Brain Malformations 3
Pachygyria, Agyria, Gray matter heterotopia, Subcortical band heterotopia, Lissencephaly OMIM:615411
Chudley-Mccullough Syndrome
Dysplastic corpus callosum, Partial agenesis of the corpus callosum, Gray matter heterotopia, Pol... OMIM:604213
Microphthalmia/Coloboma 6
Hypoplasia of the fovea, Coloboma, Optic disc hypoplasia, Bilateral microphthalmos OMIM:613703
Anterior Segment Dysgenesis 2
Cataract, Microcornea, Peters anomaly, Posterior synechiae of the anterior chamber, Aniridia, Col... OMIM:610256
Microphthalmia/Coloboma 7
Inferior chorioretinal coloboma, Iris coloboma, Microphthalmia OMIM:614497
Cataract 11, Multiple Types
Cataract, Developmental cataract, Microphthalmia OMIM:610623
Cataract 9, Multiple Types
Cataract, Microcornea, Progressive cataract, Developmental cataract, Microphthalmia, Iris coloboma OMIM:604219
Lissencephaly 1
Pachygyria, Agyria, Gray matter heterotopia, Subcortical band heterotopia, Lissencephaly OMIM:607432
Mismatch Repair Cancer Syndrome 4
Gray matter heterotopia, Agenesis of corpus callosum OMIM:619101
Blindness-Scoliosis-Arachnodactyly Syndrome
Lens subluxation, Cataract, Microphakia ORPHA:171844
Intellectual Developmental Disorder, Autosomal Recessive 64
Reduced social reciprocity, Seizure OMIM:618103
Hereditary Geniospasm
Chin myoclonus, Abnormal social behavior ORPHA:53372
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Cataract, Aplasia/Hypoplasia of the lens ORPHA:1381
Nodular Neuronal Heterotopia
Abnormality of neuronal migration ORPHA:2149
Microphthalmia/Coloboma 5
Chorioretinal coloboma, Bilateral microphthalmos, Anophthalmia, Microphthalmia, Iris coloboma OMIM:611638
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Abnormal social behavior, Seizure ORPHA:436151
Congenital Primary Aphakia
Corneal perforation, Optic disc coloboma, Aniridia, Congenital aphakia, Aplasia/Hypoplasia affect... ORPHA:83461
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Band Heterotopia
Lateral ventricle dilatation, Polymicrogyria, Agenesis of corpus callosum, Gray matter heterotopi... OMIM:600348
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Microphthalmia, Isolated 4
Coloboma, Microphthalmia OMIM:613094
Microlissencephaly
Polymicrogyria, Periventricular heterotopia, Pachygyria, Subcortical heterotopia, Lissencephaly, ... ORPHA:1083
Microphthalmia, Isolated 2
Opacification of the corneal stroma, Microphthalmia OMIM:610093
Xeroderma Pigmentosum, Complementation Group G
Cataract, Infantile spasms, Microphthalmia OMIM:278780
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microphthalmia, Microcornea, Corneal opacity ORPHA:2432
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Cataract, Iris coloboma, Chorioretinal coloboma, Microphthalmia OMIM:120433
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Peters anomaly, Coloboma, Ocular anterior segment dysgenesis, Microphthalmia, Iris coloboma OMIM:610023
Female Restricted Epilepsy With Intellectual Disability
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... ORPHA:101039
Oculoauricular Syndrome
Cataract, Microcornea, Posterior synechiae of the anterior chamber, Chorioretinal coloboma, Retin... OMIM:612109
Foveal Hypoplasia 2
Astigmatism, Axenfeld anomaly, Hypoplasia of the fovea, Posterior embryotoxon, Microphthalmia OMIM:609218
Autism, Susceptibility To, 20
Reduced social reciprocity OMIM:618830
Isolated Lissencephaly Type 1 Without Known Genetic Defects
Pachygyria, Agyria, Gray matter heterotopia ORPHA:1084
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Microcornea, Chorioretinal coloboma, Remnants of the hyaloid vascular system, Microphthalmia, Pos... ORPHA:231736
Chromosome 15Q11-Q13 Duplication Syndrome
Bilateral tonic-clonic seizure, Impaired ability to form peer relationships, Reduced social recip... OMIM:608636
Anterior Segment Dysgenesis 5
Microcornea, Peters anomaly, Hypoplasia of the iris, Rieger anomaly, Microphthalmia, Hypoplasia o... OMIM:604229
Weill-Marchesani Syndrome 3
Microspherophakia, Shallow anterior chamber, Ectopia lentis OMIM:614819
Periventricular Heterotopia With Microcephaly, Autosomal Recessive
Periventricular nodular heterotopia, Periventricular heterotopia OMIM:608097
Autosomal Dominant Keratitis
Cataract, Microcornea, Keratitis, Bilateral microphthalmos, Abnormal corneal limbus morphology, A... ORPHA:2334
Congenital Varicella Syndrome
Cataract, Microphthalmia ORPHA:291
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma
Microspherophakia, Ectopia lentis, Megalocornea, Iridodonesis, Buphthalmos, Deep anterior chamber OMIM:251750
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
2Q24 Microdeletion Syndrome
Cataract, Abnormality iris morphology, Seizure, Coloboma, Microphthalmia ORPHA:1617
Microcephaly-Microcornea Syndrome, Seemanova Type
Cataract, Microcornea, Microphthalmia ORPHA:2528
Anterior Segment Dysgenesis 7
Cataract, Microcornea, Anterior synechiae of the anterior chamber, Sclerocornea, Ocular anterior ... OMIM:269400
Spondylo-Ocular Syndrome
Iris hypopigmentation, Cataract, Aplasia/Hypoplasia of the lens, Microphthalmia ORPHA:85194
Intellectual Developmental Disorder, Autosomal Recessive 6
Myoclonus, Reduced social reciprocity, Atonic seizure OMIM:611092
Facial Clefting, Oblique, 1
Coloboma, Microphthalmia OMIM:600251
Gombo Syndrome
Microphthalmia OMIM:233270
Dihydropyrimidine Dehydrogenase Deficiency
Coloboma, Seizure, Microphthalmia OMIM:274270
Lissencephaly 8
Cataract, Delayed early-childhood social milestone development, Seizure, Microphthalmia OMIM:617255
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Coloboma, Ocular anterior segment dysgenesis, Developmental cataract, Microphthalmia ORPHA:324416
Microphthalmia, Syndromic 13
Microcornea, Iris coloboma, Chorioretinal coloboma, Microphthalmia OMIM:300915
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Cataract, Chorioretinal coloboma, Posterior embryotoxon, Corneal opacity, Microphthalmia, Iris co... ORPHA:1473
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Anophthalmia, Microphthalmia ORPHA:85275
Microphthalmia, Isolated 6
Microcornea, Microphthalmia OMIM:613517
Pupillary Membrane, Persistence Of
Persistent pupillary membrane, Developmental cataract, Megalocornea OMIM:178900
Polymicrogyria Due To Tubb2B Mutation
Lateral ventricle dilatation, Polymicrogyria, Agenesis of corpus callosum, Pachygyria, Gray matte... ORPHA:300573
Polymicrogyria With Optic Nerve Hypoplasia
Dysplastic corpus callosum, Polymicrogyria, Colpocephaly, Agenesis of corpus callosum ORPHA:250972
Microphthalmia, Syndromic 16
Sclerocornea, Anophthalmia, Microphthalmia OMIM:611038
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Cataract, Microcornea, Seizure, Microphthalmia 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
Polymicrogyria, Abnormality of neuronal migration, Pachygyria, Gray matter heterotopia, Lissencep... OMIM:604317
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Microphthalmia, Isolated 1
Anophthalmia, Microphthalmia OMIM:251600
Cornea Plana 2, Autosomal Recessive
Corneal opacity, Microphthalmia, Sclerocornea, Flat cornea, Corneal arcus, Decreased corneal thic... OMIM:217300
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia OMIM:251700
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Cataract, Seizure, Microphthalmia OMIM:251270
Lissencephaly 6 With Microcephaly
Polymicrogyria, Periventricular heterotopia, Microlissencephaly, Pachygyria, Partial agenesis of ... OMIM:616212
Cofs Syndrome
Cataract, Seizure, Microphthalmia ORPHA:1466
Nanophthalmos
Microphthalmia ORPHA:35612
Biemond Syndrome Type 2
Coloboma, Microphthalmia ORPHA:141333
Idiopathic Uveal Effusion Syndrome
Abnormal anterior eye segment morphology, Microphthalmia ORPHA:209956
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Abnormality of neuronal migration OMIM:618709
Otodental Syndrome
Cataract, Microcornea, Retinal coloboma, Microphthalmia, Lens coloboma, Iris coloboma ORPHA:2791
Nail-Patella Syndrome
Keratoconus, Microcornea, Cataract, Lester's sign, Antecubital pterygium, Microphakia OMIM:161200
Microphthalmia With Brain And Digit Anomalies
Cataract, Microcornea, Seizure, Chorioretinal coloboma, Anophthalmia, Microphthalmia, Sclerocorne... ORPHA:139471
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Cataract, Seizure, Microphthalmia OMIM:613730
Microphthalmia, Isolated 5
Cataract, Microphthalmia OMIM:611040
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
Maternal Hyperthermia-Induced Birth Defects
Abnormality of neuronal migration ORPHA:2216
Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome
Cataract, Retinal coloboma, Microphthalmia OMIM:601794
Norrie Disease
Cataract, Seizure, Hypoplasia of the iris, Opacification of the corneal stroma, Leukocoria, Corne... OMIM:310600
Chromosome 11P13 Deletion Syndrome, Distal
Aniridia, Seizure OMIM:616902
Nanophthalmos 4
Microphthalmia OMIM:615972
Microphthalmia, Syndromic 5
Cataract, Microcornea, Seizure, Anophthalmia, Coloboma, Microphthalmia, Optic nerve hypoplasia OMIM:610125
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Shallow anterior chamber, Microphthalmia OMIM:267760
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Cataract, Retinal coloboma, Microphthalmia ORPHA:363741
Glutathionuria
Gray matter heterotopia, Agenesis of corpus callosum OMIM:231950
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Cataract, Chorioretinal coloboma, Corneal scarring, Microphthalmia, Buphthalmos, Iris coloboma OMIM:212550
Subependymal Nodular Heterotopia
Abnormality of neuronal migration, Partial agenesis of the corpus callosum, Gray matter heterotop... ORPHA:101030
Cat-Eye Syndrome
Iris coloboma, Chorioretinal coloboma, Microphthalmia ORPHA:195
Developmental Delay With Variable Neurologic And Brain Abnormalities
Cataract, Astigmatism, Seizure, Microphthalmia OMIM:619694
Developmental And Epileptic Encephalopathy 1
Infantile spasms, Focal-onset seizure, Tonic seizure, Microphthalmia, Focal motor seizure, Errati... OMIM:308350
Bilateral Striopallidodentate Calcinosis
Abnormality of neuronal migration ORPHA:1980
Anterior Segment Dysgenesis 3
Peters anomaly, Ectopia pupillae, Rieger anomaly, Abnormal iris vasculature, Axenfeld anomaly, Po... OMIM:601631
Myoclonic-Astatic Epilepsy
Atonic seizure, Generalized non-motor (absence) seizure, Focal-onset seizure, Reduced social reci... ORPHA:1942
Ectopia Lentis 1, Isolated, Autosomal Dominant
Microspherophakia, Shallow anterior chamber, Ectopia lentis OMIM:129600
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Type II lissencephaly, Gray matter heterotopia, Dysgyria ORPHA:352682
Microphthalmia, Isolated, With Corectopia
Microphthalmia, Ectopia pupillae OMIM:156900
Microphthalmia/Coloboma 12
Peters anomaly, Optic disc coloboma, Chorioretinal coloboma, Optic nerve aplasia, Corneal opacity... OMIM:120200
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Cataract, Aniridia, Microcornea OMIM:106230
Aniridia-Intellectual Disability Syndrome
Cataract, Aniridia, Ectopia lentis, Optic nerve hypoplasia ORPHA:1068
Microphthalmia, Isolated 8
Retinal coloboma, True anophthalmia, Anophthalmia, Microphthalmia, Optic nerve hypoplasia OMIM:615113
Joubert Syndrome 30
Gray matter heterotopia, Polymicrogyria, Agenesis of corpus callosum OMIM:617622
Cerebrooculofacioskeletal Syndrome 3
Microphthalmia OMIM:616570
Persistent Hyperplastic Primary Vitreous
Cataract, Microcornea, Hyaloid vascular remnant and retrolental mass, Persistent pupillary membra... ORPHA:91495
Neurooculocardiogenitourinary Syndrome
Coloboma, Peters anomaly, Seizure, Microphthalmia OMIM:618652
Congenital Rubella Syndrome
Cataract, Seizure, Aplasia/Hypoplasia of the iris, Corneal opacity, Microphthalmia ORPHA:290
Symmetrical Thalamic Calcifications
Abnormality of neuronal migration ORPHA:1314
Lissencephaly Syndrome, Norman-Roberts Type
Abnormality of neuronal migration, Microlissencephaly, 4-layered lissencephaly, Agenesis of corpu... ORPHA:89844
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Cataract, Abnormally large globe, Seizure, Tonic seizure, Coloboma, Microphthalmia OMIM:615249
Microphthalmia/Coloboma 9
Microcornea, Ocular anterior segment dysgenesis, Microphthalmia, Sclerocornea, Iris coloboma, Mac... OMIM:615145
Kniest Dysplasia
Aplasia/Hypoplasia of the lens, Cataract, Lens luxation ORPHA:485
Baraitser-Winter Syndrome 2
Coloboma, Seizure, Microphthalmia OMIM:614583
Microphthalmia-Brain Atrophy Syndrome
Bilateral microphthalmos, Focal hyperkinetic seizure, Generalized-onset seizure, Multifocal seizu... ORPHA:77299
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Cataract, Microcornea, Posterior synechiae of the anterior chamber, Persistent pupillary membrane... OMIM:221900
Temtamy Syndrome
Ectopia lentis, Seizure, Chorioretinal coloboma, Microphthalmia, Iris coloboma, Lens luxation OMIM:218340
Temtamy Syndrome
Iris coloboma, Chorioretinal coloboma, Microphthalmia ORPHA:1777
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Developmental cataract, Microphthalmia OMIM:613155
Aniridia 2
Lens subluxation, Cataract, Aniridia, Iris coloboma OMIM:617141
Long-Olsen-Distelmaier Syndrome
Cataract, Microspherophakia, Optic nerve hypoplasia OMIM:620609
Warburg Micro Syndrome 1
Microcornea, Developmental cataract, Microphthalmia OMIM:600118
Mmep Syndrome
Microphthalmia ORPHA:3434
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Cataract, Optic nerve hypoplasia, Microphthalmia OMIM:615181
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Cataract, Microcornea, Myoclonic seizure, Myopic astigmatism, Astigmatism, Corneal opacity, Micro... OMIM:152950
Microphthalmia, Syndromic 8
Microcornea, Microphthalmia OMIM:601349
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Cataract, Microcornea, Microphthalmia ORPHA:48431
3-Hydroxyisobutyric Aciduria
Abnormality of neuronal migration OMIM:236795
Joubert Syndrome 22
Coloboma, Microphthalmia OMIM:615665
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Lens coloboma, Microphthalmia OMIM:618914
Adams-Oliver Syndrome 4
Microphthalmia OMIM:615297
Chromosome 17Q12 Duplication Syndrome
Peters anomaly, Seizure, Microphthalmia OMIM:614526
Pierpont Syndrome
Microcornea, Seizure, Microphthalmia OMIM:602342
Cerebrooculofacioskeletal Syndrome 2
Cataract, Developmental cataract, Microphthalmia OMIM:610756
Nance-Horan Syndrome
Cataract, Microcornea, Microphthalmia ORPHA:627
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Cataract, Coloboma, Corneal opacity, Microphthalmia OMIM:613153
Oculocerebrocutaneous Syndrome
Gray matter heterotopia, Agenesis of corpus callosum OMIM:164180
Hsd10 Disease
Myoclonus, Abnormal social behavior, Seizure ORPHA:391417
Triokinase And Fmn Cyclase Deficiency Syndrome
Cataract, Microphthalmia OMIM:618805
Oculogastrointestinal Neurodevelopmental Syndrome
Unilateral microphthalmos, Coloboma, Bilateral microphthalmos OMIM:619318
Pierpont Syndrome
Microcornea, Microphthalmia ORPHA:487825
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Microphthalmia OMIM:614830
Oculopalatocerebral Syndrome
Leukocoria, Remnants of the hyaloid vascular system, Microphthalmia OMIM:257910
Bartsocas-Papas Syndrome 2
Axillary pterygium, Popliteal pterygium, Corneal opacity, Microphthalmia, Antecubital pterygium OMIM:619339
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Cataract, Microphthalmia ORPHA:93267
11Q22.2Q22.3 Microdeletion Syndrome
Abnormal social behavior, Seizure ORPHA:444002
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Cataract, Microcornea, Coloboma, Microphthalmia, Iris transillumination defect OMIM:617306
Pelvis-Shoulder Dysplasia
Opacification of the corneal stroma, Iris coloboma, Optic disc coloboma, Microphthalmia OMIM:169550
Hemimegalencephaly
Pachygyria, Gray matter heterotopia, Polymicrogyria ORPHA:99802
Lissencephaly 5
Type II lissencephaly, Gray matter heterotopia, Subcortical band heterotopia OMIM:615191
Brain Small Vessel Disease 2
Subcortical heterotopia, Polymicrogyria OMIM:614483
Microphthalmia, Syndromic 12
Anophthalmia, Microphthalmia OMIM:615524
3Q29 Microduplication Syndrome
Cataract, Seizure, Aniridia, Microphthalmia, Sclerocornea, Iris coloboma ORPHA:251038
Warburg Micro Syndrome 3
Cataract, Microcornea, Myoclonic seizure, Bilateral tonic-clonic seizure, Microphthalmia, Develop... OMIM:614222
Cataract 10, Multiple Types
Posterior Y-sutural cataract, Developmental cataract, Nuclear cataract, Zonular cataract OMIM:600881
Vitreoretinochoroidopathy
Microphthalmia, Microcornea, Developmental cataract, Pulverulent cataract OMIM:193220
Congenital Muscular Dystrophy With Cerebellar Involvement
Cataract, Abnormality iris morphology, Seizure, Megalocornea, Coloboma, Microphthalmia, Optic ner... ORPHA:370959
Edict Syndrome
Keratoconus, Microcornea, Hypoplasia of the iris, Astigmatism, Anterior polar cataract OMIM:614303
Rodrigues Blindness
Sclerocornea, Microcornea, Microphthalmia OMIM:268320
Adams-Oliver Syndrome 2
Developmental cataract, Seizure, Microphthalmia OMIM:614219
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia OMIM:615771
Phace Syndrome
Cataract, Seizure, Heterochromia iridis, Microphthalmia, Sclerocornea, Lens coloboma, Iris colobo... ORPHA:42775
Norrie Disease
Cataract, Ectopia lentis, Seizure, Hypoplasia of the iris, Abnormal pupil morphology, Corneal opa... ORPHA:649
Histiocytoid Cardiomyopathy
Seizure, Megalocornea, Congenital aphakia, Corneal opacity, Microphthalmia ORPHA:137675
Frontonasal Dysplasia 1
Cataract, Coloboma, Microphthalmia OMIM:136760
Ectodermal Dysplasia-Blindness Syndrome
Cataract, Microcornea, Keratoconjunctivitis sicca, Microphthalmia, Sclerocornea, Corneal dystrophy ORPHA:1806
Congenital Toxoplasmosis
Seizure, Microphthalmia ORPHA:858
Craniotelencephalic Dysplasia
Optic nerve hypoplasia, Microphthalmia OMIM:218670
Stevenson-Carey Syndrome
Coloboma, Seizure, Microphthalmia OMIM:611961
Warburg Micro Syndrome 4
Microcornea, Seizure, Developmental cataract, Microphthalmia, Status epilepticus OMIM:615663
Rere-Related Neurodevelopmental Syndrome
Peters anomaly, Seizure, Chorioretinal coloboma, Astigmatism, Microphthalmia, Iris coloboma ORPHA:494344
Craniotelencephalic Dysplasia
Septo-optic dysplasia, Microphthalmia ORPHA:1528
Frontofacionasal Dysplasia
Cataract, Microcornea, Limbal dermoid, Microphthalmia, Brushfield spots, Iris coloboma ORPHA:1791
Fanconi Anemia, Complementation Group G
Microphthalmia OMIM:614082
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Seizure, Microphthalmia OMIM:602501
Nance-Horan Syndrome
Posterior Y-sutural cataract, Microcornea, Developmental cataract, Microphthalmia OMIM:302350
Fryns Microphthalmia Syndrome
Anophthalmia, Microphthalmia OMIM:600776
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Abnormality of neuronal migration ORPHA:2204
Nasopalpebral Lipoma-Coloboma Syndrome
Conjunctival hyperemia, Coloboma, Microphthalmia OMIM:167730
Trisomy 13
Cataract, Seizure, Anophthalmia, Aplasia/Hypoplasia of the iris, Microphthalmia, Iris coloboma ORPHA:3378
Cataract 3, Multiple Types
Developmental cataract, Sutural cataract, Nuclear pulverulent cataract, Cerulean cataract OMIM:601547
Childhood Absence Epilepsy
Myoclonic absence seizure, Typical absence seizure, Limb myoclonus, Febrile seizure (within the a... ORPHA:64280
Congenital Disorder Of Glycosylation, Type Iq
Cataract, Coloboma, Microphthalmia OMIM:612379
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1
Cataract, Microphthalmia OMIM:301108
17Q12 Microduplication Syndrome
Seizure, Microphthalmia ORPHA:261272
Xk Aprosencephaly Syndrome
Microphthalmia ORPHA:3469
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Cataract, Microcornea, Ectopia pupillae, Anophthalmia, Coloboma, Microphthalmia, Sclerocornea OMIM:615877
Gracile Bone Dysplasia
Aniridia, Seizure, Microphthalmia OMIM:602361
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6
Abnormality of neuronal migration, Pachygyria OMIM:608840
Cerebrooculofacioskeletal Syndrome 1
Cataract, Seizure, Microphthalmia OMIM:214150
Solitary Median Maxillary Central Incisor
Cyclopia, Coloboma, Anophthalmia, Microphthalmia OMIM:147250
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Agenesis of corpus callosum, Colpocephaly, Gray matter heterotopia, Lissencephaly, Simplified gyr... OMIM:615219
Nasopalpebral Lipoma-Coloboma Syndrome
Cataract, Bilateral microphthalmos, Conjunctival hyperemia, Coloboma, Corneal opacity, Microphtha... ORPHA:2399
Pyruvate Dehydrogenase E1-Beta Deficiency
Pachygyria, Periventricular heterotopia, Agenesis of corpus callosum ORPHA:255138
Periventricular Nodular Heterotopia 1
Abnormality of neuronal migration, Gray matter heterotopia OMIM:300049
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Subcortical heterotopia, Polymicrogyria, Type II lissencephaly, Pachygyria, Partial agenesis of t... OMIM:614643
Fanconi Anemia, Complementation Group J
Microphthalmia OMIM:609054
Osteoporosis-Pseudoglioma Syndrome
Corneal opacity, Microphthalmia ORPHA:2788
Baraitser-Winter Syndrome 1
Iris coloboma, Chorioretinal coloboma, Seizure, Microphthalmia OMIM:243310
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Cataract, Seizure, Retinal coloboma, Astigmatism, Microphthalmia OMIM:618571
Curry-Jones Syndrome
Iris coloboma, Optic disc coloboma, Microphthalmia ORPHA:1553
Acalvaria
Abnormality of neuronal migration ORPHA:945
Walker-Warburg Syndrome
Cataract, Microcornea, Seizure, Anophthalmia, Corneal opacity, Microphthalmia, Iris coloboma ORPHA:899
Weill-Marchesani Syndrome 1
Cataract, Microspherophakia, Shallow anterior chamber, Ectopia lentis OMIM:277600
Pseudo-Torch Syndrome 2
Gray matter heterotopia, Lateral ventricle dilatation, Polymicrogyria OMIM:617397
Microphthalmia, Lenz Type
Cataract, Microcornea, Seizure, Chorioretinal coloboma, Optic disc coloboma, Microphthalmia, Iris... ORPHA:568
Bresek Syndrome
Optic nerve hypoplasia, Iris coloboma, Microphthalmia ORPHA:85284
Kapur-Toriello Syndrome
Cataract, Seizure, Retinal coloboma, Microphthalmia, Iris coloboma OMIM:244300
Pitt-Hopkins-Like Syndrome 1
Status epilepticus, Generalized-onset seizure, Bilateral tonic-clonic seizure with focal onset, R... OMIM:610042
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Sclerocornea, Iris coloboma, Anophthalmia, Microphthalmia ORPHA:77298
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Optic nerve hypoplasia, Seizure, Microphthalmia OMIM:614833
Chiari Malformation Type Ii
Gray matter heterotopia, Agenesis of corpus callosum OMIM:207950
Leber Congenital Amaurosis
Abnormality of neuronal migration ORPHA:65
Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations
Periventricular heterotopia, Simplified gyral pattern OMIM:618273
Ring Chromosome 10 Syndrome
Seizure, Microphthalmia ORPHA:1438
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Microphthalmia ORPHA:1135
Encephalocraniocutaneous Lipomatosis
Seizure, Hypoplasia of the iris, Microphthalmia, Sclerocornea, Limbal dermoid OMIM:613001
Congenital Muscular Dystrophy Without Intellectual Disability
Pachygyria, Gray matter heterotopia ORPHA:370980
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Cataract, Peters anomaly, Seizure, Microphthalmia, Buphthalmos, Persistent pupillary membrane OMIM:613150
Xeroderma Pigmentosum, Complementation Group D
Cataract, Keratitis, Corneal neovascularization, Keratoconjunctivitis sicca, Microphthalmia, Conj... OMIM:278730
Micro Syndrome
Cataract, Microcornea, Seizure, Retinal coloboma, Microphthalmia ORPHA:2510
Sandestig-Stefanova Syndrome
Developmental cataract, Microphthalmia OMIM:618804
Weill-Marchesani Syndrome 2
Cataract, Microspherophakia, Ectopia lentis, Astigmatism, Iridodonesis, Shallow anterior chamber,... OMIM:608328
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Cataract, Microphthalmia OMIM:614105
Trichothiodystrophy 3, Photosensitive
Cataract, Developmental cataract, Microphthalmia OMIM:616395
Traboulsi Syndrome
Cataract, Ectopia lentis, Phakodonesis, Microphthalmia, Iris atrophy, Spherophakia, Anterior syne... OMIM:601552
Meckel Syndrome, Type 8
Anophthalmia, Microphthalmia OMIM:613885
Microphthalmia, Syndromic 11
Microphthalmia OMIM:614402
Oculofaciocardiodental Syndrome
Cataract, Microcornea, Ectopia lentis, Microphthalmia, Iris coloboma ORPHA:2712
Warburg Micro Syndrome 2
Cataract, Microcornea, Developmental cataract, Microphthalmia OMIM:614225
Exudative Vitreoretinopathy 2, X-Linked
Shallow anterior chamber, Microphthalmia OMIM:305390
Congenital Fibrinogen Deficiency
Developmental cataract, Microphthalmia ORPHA:335
Kapur-Toriello Syndrome
Retinal coloboma, Iris coloboma, Microphthalmia ORPHA:2328
Ritscher-Schinzel Syndrome 3
Focal impaired awareness seizure, Chorioretinal coloboma, Microphthalmia OMIM:619135
Periventricular Nodular Heterotopia 7
Gray matter heterotopia, Periventricular nodular heterotopia, Polymicrogyria OMIM:617201
Congenital Disorder Of Deglycosylation 2
Gray matter heterotopia, Partial agenesis of the corpus callosum, Hypothalamic hamartoma, Polymic... OMIM:619775
Phace Association
Developmental cataract, Optic nerve hypoplasia, Seizure, Microphthalmia OMIM:606519
Pierson Syndrome
Cataract, Hypoplasia of the iris, Rieger anomaly, Uveal ectropion, Hypoplasia of the ciliary body... OMIM:609049
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Overfriendliness, Ocular anterior segment dysgenesis, Bilateral microphthalmos ORPHA:369891
Linear Skin Defects With Multiple Congenital Anomalies 2
Microphthalmia OMIM:300887
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Cataract, Microphthalmia ORPHA:163649
Tetraamelia-Multiple Malformations Syndrome
Cataract, Microcornea, Iris coloboma, Microphthalmia, Septo-optic dysplasia ORPHA:3301
Stromme Syndrome
Cataract, Microcornea, Peters anomaly, Microphthalmia, Sclerocornea, Iris coloboma, Optic nerve h... OMIM:243605
Hartsfield Syndrome
Microphthalmia ORPHA:2117
Desmosterolosis
Abnormal cortical gyration, Polymicrogyria, Agenesis of corpus callosum, Abnormality of neuronal ... ORPHA:35107
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Cataract, Buphthalmos, Microphthalmia OMIM:616538
Cataract 16, Multiple Types
Posterior polar cataract, Lenticonus, Developmental cataract OMIM:613763
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Abnormality of neuronal migration ORPHA:2772
Braddock-Carey Syndrome 2
Microphthalmia OMIM:619981
Cerebral Palsy, Spastic Quadriplegic, 3
Gray matter heterotopia OMIM:617008
Hypomelanosis Of Ito
Gray matter heterotopia OMIM:300337
Basel-Vanagaite-Smirin-Yosef Syndrome
Cataract, Microcornea, Seizure, Microphthalmia OMIM:616449
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Microphthalmia ORPHA:2547
Tetrasomy 18P
Abnormality of neuronal migration ORPHA:3307
Familial Exudative Vitreoretinopathy
Cataract, Microphthalmia ORPHA:891
Papillorenal Syndrome
Cataract, Optic disc coloboma, Seizure, Retinal coloboma, Microphthalmia, Lens luxation OMIM:120330
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Microphthalmia, Cataract, Astigmatism, Ectopia pupillae OMIM:618727
Refsum Disease
Cataract, Microphthalmia ORPHA:773
Lamb-Shaffer Syndrome
Abnormal social behavior, Seizure ORPHA:530983
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Cataract, Peters anomaly, Seizure, Megalocornea, Coloboma, Corneal opacity, Microphthalmia, Bupht... OMIM:236670
Cataract 39, Multiple Types
Lamellar cataract, Developmental cataract, Anterior polar cataract OMIM:615188
8Q21.11 Microdeletion Syndrome
Iris hypopigmentation, Cataract, Microphthalmia, Corneal opacity, Sclerocornea ORPHA:284160
Oculo-Palato-Cerebral Syndrome
Cataract, Leukocoria, Remnants of the hyaloid vascular system, Microphthalmia ORPHA:2714
Kenny-Caffey Syndrome, Type 2
Developmental cataract, Seizure, Microphthalmia OMIM:127000
Deafness, X-Linked 7
Unilateral microphthalmos OMIM:301018
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Ocular albinism, Myoclonus, Microphthalmia ORPHA:1352
Carnitine Palmitoyltransferase Ii Deficiency
Abnormality of neuronal migration, Polymicrogyria, Pachygyria, Agenesis of corpus callosum ORPHA:157
Frontonasal Dysplasia 3
Microphthalmia OMIM:613456
Linear Skin Defects With Multiple Congenital Anomalies 3
Sclerocornea, Seizure, Microphthalmia OMIM:300952
Vici Syndrome
Gray matter heterotopia, Agenesis of corpus callosum ORPHA:1493
Neonatal Adrenoleukodystrophy
Abnormality of neuronal migration ORPHA:44
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Seizure, Microphthalmia OMIM:618494
Neuroocular Syndrome 1
Cataract, Microcornea, Stellate iris, Peters anomaly, Hypoplasia of the fovea, Blue irides, Remna... OMIM:619539
Cryptophthalmos, Unilateral Or Bilateral, Isolated
Microphthalmia OMIM:123570
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Microphthalmia, Seizure, Febrile seizure (within the age range of 3 months to 6 years) ORPHA:404440
Edinburgh Malformation Syndrome
Abnormality of neuronal migration ORPHA:1895
Poretti-Boltshauser Syndrome
Gray matter heterotopia OMIM:615960
Mend Syndrome
Cataract, Abnormal social behavior, Seizure, Microphthalmia ORPHA:401973
Adams-Oliver Syndrome
Cataract, Seizure, Microphthalmia ORPHA:974
Trichothiodystrophy 4, Nonphotosensitive
Microcornea, Keratoconjunctivitis sicca, Microphthalmia OMIM:234050
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Interhypothalamic adhesion, Periventricular heterotopia, Agenesis of corpus callosum OMIM:618929
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Unilateral microphthalmos, Iris coloboma, Seizure OMIM:618874
Frontorhiny
Cataract, Iris coloboma, Microphthalmia ORPHA:391474
Linear Skin Defects With Multiple Congenital Anomalies 1
Cataract, Peters anomaly, Seizure, Microphthalmia, Sclerocornea, Iris coloboma OMIM:309801
Early-Onset Autosomal Dominant Alzheimer Disease
Myoclonus, Abnormal social behavior, Seizure ORPHA:1020
Fanconi Anemia, Complementation Group I
Optic nerve hypoplasia, Astigmatism, Microphthalmia OMIM:609053
3P25.3 Microdeletion Syndrome
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Generalized non-motor (absence) se... ORPHA:435638
Intellectual Developmental Disorder, X-Linked 12
Abnormality of neuronal migration OMIM:300957
Linear Nevus Sebaceus Syndrome
Iris coloboma, Seizure, Microphthalmia ORPHA:2612
Dihydropyrimidine Dehydrogenase Deficiency
Microcornea, Seizure, Febrile seizure (within the age range of 3 months to 6 years), Astigmatism,... ORPHA:1675
X-Linked Dominant Chondrodysplasia Punctata
Cataract, Microcornea, Microphthalmia ORPHA:35173
Seckel Syndrome 2
Microphthalmia OMIM:606744
Subaortic Stenosis-Short Stature Syndrome
Microphthalmia ORPHA:3191
Marfan Syndrome
Cataract, Microspherophakia, Increased axial length of the globe, Ectopia lentis, Hypoplasia of t... OMIM:154700
Xeroderma Pigmentosum, Complementation Group B
Cataract, Microphthalmia OMIM:610651
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Ectopia pupillae, Coloboma, Corneal opacity, Microphthalmia, Lens subluxation ORPHA:85167
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Colpocephaly, Periventricular heterotopia OMIM:619833
Oculodentodigital Dysplasia, Autosomal Recessive
Cataract, Microcornea, Persistent pupillary membrane, Microphthalmia OMIM:257850
Atelis Syndrome 2
Developmental cataract, Remnants of the hyaloid vascular system, Seizure, Microphthalmia OMIM:620185
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Iris coloboma, Seizure, Microphthalmia ORPHA:1236
Joubert Syndrome 14
Coloboma, Microphthalmia OMIM:614424
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Cataract, Seizure, Microphthalmia OMIM:253800
Li-Ghorbani-Weisz-Hubshman Syndrome
Periventricular heterotopia OMIM:618974
1Q21.1 Microdeletion Syndrome
Cataract, Iris coloboma, Seizure, Microphthalmia ORPHA:250989
Manitoba Oculotrichoanal Syndrome
Corneopalpebral synechiae, Anophthalmia, Microphthalmia OMIM:248450
Thanatophoric Dysplasia Type 2
Abnormality of neuronal migration ORPHA:93274
Multiple Benign Circumferential Skin Creases On Limbs
Microcornea, Microphthalmia ORPHA:2505
Heart And Brain Malformation Syndrome
Seizure, Microphthalmia OMIM:616920
Joubert Syndrome 37
Microphthalmia OMIM:619185
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hypocalcemic seizures, Seizure, Microphthalmia OMIM:241410
Joubert Syndrome 2
Optic disc coloboma, Chorioretinal coloboma, Seizure, Microphthalmia OMIM:608091
Martsolf Syndrome 1
Cataract, Developmental cataract, Microphthalmia OMIM:212720
Acro-Renal-Ocular Syndrome
Cataract, Microcornea, Optic disc hypoplasia, Chorioretinal coloboma, Optic disc coloboma, Colobo... ORPHA:959
Radio-Tartaglia Syndrome
Gray matter heterotopia, Agenesis of corpus callosum OMIM:619312
Microphthalmia, Syndromic 3
Cataract, Optic nerve aplasia, Anophthalmia, Coloboma, Microphthalmia, Sclerocornea, Optic nerve ... OMIM:206900
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Cataract, Iris coloboma, Anophthalmia, Microphthalmia ORPHA:2250
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Abnormality of neuronal migration, Polymicrogyria, Pachygyria, Agenesis of corpus callosum ORPHA:228308
Monosomy 18P
Microphthalmia ORPHA:1598
Trichothiodystrophy 1, Photosensitive
Cataract, Microcornea, Keratoconjunctivitis sicca, Microphthalmia OMIM:601675
Galloway-Mowat Syndrome 1
Cataract, Seizure, Hypoplasia of the iris, Microphthalmia, Opacification of the corneal stroma OMIM:251300
6Q Terminal Deletion Syndrome
Polymicrogyria, Periventricular heterotopia, Abnormality of neuronal migration, Colpocephaly, Gra... ORPHA:75857
Chromosome 8Q21.11 Deletion Syndrome
Sclerocornea, Cataract, Microphthalmia OMIM:614230
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Microphthalmia OMIM:300863
16P13.11 Microdeletion Syndrome
Abnormality of neuronal migration, Agenesis of corpus callosum ORPHA:261236
Fragile X Syndrome
Periventricular heterotopia OMIM:300624
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Abnormality of neuronal migration, Polymicrogyria, Agenesis of corpus callosum OMIM:608836
Hydrolethalus
Anophthalmia, Microphthalmia ORPHA:2189
Acrofrontofacionasal Dysostosis 1
Iris atrophy, Seizure, Microphthalmia OMIM:201180
Moebius Syndrome
Microphthalmia OMIM:157900
2Q31.1 Microdeletion Syndrome
Optic disc coloboma, Seizure, Coloboma, Microphthalmia, Iris coloboma ORPHA:251014
Marden-Walker Syndrome
Seizure, Microphthalmia OMIM:248700
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Microphthalmia OMIM:619053
Basel-Vanagaite-Smirin-Yosef Syndrome
Microcornea, Developmental cataract, Seizure, Microphthalmia ORPHA:464738
Meckel Syndrome, Type 5
Microphthalmia OMIM:611561
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies
Seizure, Microphthalmia OMIM:620098
Fanconi Anemia, Complementation Group S
Microphthalmia OMIM:617883
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Abnormal cortical gyration, Polymicrogyria, Abnormality of neuronal migration, Pachygyria, Lissen... ORPHA:2211
Osteoporosis-Pseudoglioma Syndrome
Cataract, Iris atrophy, Phthisis bulbi, Absent anterior chamber of the eye, Microphthalmia, Focal... OMIM:259770
Thanatophoric Dysplasia
Gray matter heterotopia ORPHA:2655
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Optic disc coloboma, Ectopia pupillae, Corneal opacity, Microphthalmia, Lens subluxation OMIM:608940
Sponastrime Dysplasia
Cataract, Microcoria, Congenital aphakia ORPHA:93357
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Microcornea, Seizure, Ectopia pupillae, Hypoplasia of the iris, Astigmatism, Corneal neovasculari... OMIM:175780
Skin Creases, Congenital Symmetric Circumferential, 1
Microcornea, Microphthalmia OMIM:156610
Osteopetrosis, Autosomal Recessive 8
Unilateral microphthalmos OMIM:615085
Chromosome 1Q41-Q42 Deletion Syndrome
Seizure, Microphthalmia OMIM:612530
Hallermann-Streiff Syndrome
Cataract, Chorioretinal coloboma, Optic disc coloboma, Bilateral tonic-clonic seizure, Microphtha... OMIM:234100
Incontinentia Pigmenti
Cataract, Keratitis, Seizure, Hypoplasia of the fovea, Microphthalmia OMIM:308300
Cohen Syndrome
Iris coloboma, Seizure, Microphthalmia ORPHA:193
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Microphthalmia ORPHA:228390
3Q29 Microdeletion Syndrome
Cataract, Microphthalmia ORPHA:65286
Momo Syndrome
Bilateral microphthalmos, Seizure, Chorioretinal coloboma ORPHA:2563
Oculotrichoanal Syndrome
Anophthalmia, Microphthalmia ORPHA:2717
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Cataract, Seizure, Megalocornea, Myoclonus, Hypoplasia of the retina, Coloboma, Microphthalmia, B... OMIM:253280
Duane-Radial Ray Syndrome
Cataract, Optic disc hypoplasia, Retinal coloboma, Microphthalmia, Iris coloboma OMIM:607323
Periventricular Nodular Heterotopia
Periventricular heterotopia ORPHA:98892
Focal Dermal Hypoplasia
Ectopia lentis, Chorioretinal coloboma, Hypoplasia of the iris, Corneal opacity, Microphthalmia, ... ORPHA:2092
Cerebrofacioarticular Syndrome
Dysplastic corpus callosum, Gray matter heterotopia, Agenesis of corpus callosum ORPHA:314679
Pelvis-Shoulder Dysplasia
Microcornea, Iris coloboma, Bilateral microphthalmos, Retinal coloboma ORPHA:2839
Lymphedema-Distichiasis Syndrome
Recurrent corneal erosions, Conjunctivitis, Corneal ulceration, Microphthalmia OMIM:153400
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome
Abnormality of neuronal migration ORPHA:2518
Fryns Syndrome
Corneal opacity, Seizure, Microphthalmia ORPHA:2059
Chondrodysplasia Punctata 2, X-Linked Dominant
Cataract, Microphthalmia 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
Monosomy 9Q22.3
Cataract, Seizure, Microphthalmia ORPHA:77301
Microcephaly 20, Primary, Autosomal Recessive
Optic nerve hypoplasia, Microphthalmia OMIM:617914
Incontinentia Pigmenti
Cataract, Keratitis, Seizure, Corneal opacity, Microphthalmia ORPHA:464
Steinfeld Syndrome
Retinal coloboma, Iris coloboma, Microphthalmia OMIM:184705
Garg-Mishra Progeroid Syndrome
Microphthalmia OMIM:620601
Trichothiodystrophy
Microcornea, Bilateral microphthalmos, Generalized-onset seizure, Astigmatism, Reduced social rec... ORPHA:33364
Microphthalmia With Limb Anomalies
Anophthalmia, Microphthalmia OMIM:206920
Frontofacionasal Dysplasia
Cataract, Microcornea, Iris coloboma, Microphthalmia OMIM:229400
Oculodentodigital Dysplasia
Cataract, Microcornea, Seizure, Microphthalmia OMIM:164200
Van Maldergem Syndrome 1
Periventricular nodular heterotopia, Pachygyria, Gray matter heterotopia, Subcortical band hetero... OMIM:601390
Neu-Laxova Syndrome
Abnormal cortical gyration, Polymicrogyria, Abnormality of neuronal migration, Pachygyria, Lissen... ORPHA:2671
Proboscis Lateralis
Cataract, Microcornea, Chorioretinal coloboma, Optic disc coloboma, Anophthalmia, Corneal opacity... ORPHA:141099
Mycophenolate Mofetil Embryopathy
Iris coloboma, Chorioretinal coloboma, Microphthalmia ORPHA:268249
Joubert Syndrome
Abnormality of neuronal migration, Polymicrogyria ORPHA:475
16Q24.3 Microdeletion Syndrome
Colpocephaly, Periventricular heterotopia ORPHA:261250
Trisomy 18
Cataract, Microcornea, Microphthalmia, Cyclopia, Iris coloboma ORPHA:3380
Aicardi Syndrome
Cataract, Seizure, Optic disc coloboma, Epileptic spasm, Infantile spasms, Microphthalmia OMIM:304050
Neurocutaneous Melanocytosis
Abnormality of neuronal migration ORPHA:2481
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Abnormality of neuronal migration ORPHA:2063
Neuromuscular Oculoauditory Syndrome
Periventricular heterotopia, Agenesis of corpus callosum OMIM:618733
Meckel Syndrome, Type 2
Microphthalmia OMIM:603194
Galloway-Mowat Syndrome
Abnormality of neuronal migration, Pachygyria ORPHA:2065
Blepharophimosis, Ptosis, And Epicanthus Inversus
Microcornea, Microphthalmia OMIM:110100
Matthew-Wood Syndrome
Anophthalmia, Microphthalmia ORPHA:2470
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Periventricular heterotopia, Agenesis of corpus callosum OMIM:618476
Mismatch Repair Cancer Syndrome 1
Gray matter heterotopia, Agenesis of corpus callosum OMIM:276300
Fanconi Anemia, Complementation Group R
Microphthalmia OMIM:617244
Pseudotrisomy 13 Syndrome
Cyclopia, Microphthalmia OMIM:264480
Fetal Alcohol Syndrome
Microphthalmia ORPHA:1915
3C Syndrome
Abnormality of neuronal migration ORPHA:7
Man1B1-Cdg
Periventricular heterotopia ORPHA:397941
Cat Eye Syndrome
Iris coloboma, Chorioretinal coloboma, Microphthalmia OMIM:115470
Fg Syndrome Type 1
Abnormal social behavior, Seizure, Optic nerve hypoplasia ORPHA:93932
Bohring-Opitz Syndrome
Gray matter heterotopia, Agenesis of corpus callosum OMIM:605039
Jacobsen Syndrome
Microcornea, Chorioretinal coloboma, Macular hypoplasia, Microphthalmia, Iris coloboma OMIM:147791
Curry-Jones Syndrome
Iris coloboma, Microphthalmia OMIM:601707
Chromosome 13Q33-Q34 Deletion Syndrome
Seizure, Microphthalmia OMIM:619148
Vacterl With Hydrocephalus
Microcornea, Anophthalmia, Microphthalmia ORPHA:3412
Cockayne Syndrome Type 3
Lentiglobus, Cataract, Microcornea, Seizure, Keratoconjunctivitis sicca, Microphthalmia, Corneal ... ORPHA:90324
Metachromatic Leukodystrophy, Late Infantile Form
Abnormal social behavior, Seizure ORPHA:309256
Mosaic Variegated Aneuploidy Syndrome
Cataract, Corneal opacity, Seizure, Microphthalmia ORPHA:1052
Meckel Syndrome, Type 4
Microphthalmia OMIM:611134
Meckel Syndrome
Cataract, Microcornea, Aplasia/Hypoplasia of the iris, Anophthalmia, Microphthalmia, Sclerocornea ORPHA:564
48,Xxxy Syndrome
Abnormal social behavior, Seizure ORPHA:96263
Metachromatic Leukodystrophy, Juvenile Form
Abnormal social behavior, Seizure ORPHA:309263
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Cataract, Seizure, Anophthalmia, Microphthalmia, Status epilepticus ORPHA:2526
Mosaic Trisomy 1
Opacification of the corneal stroma, Microphthalmia ORPHA:1692
Peroxisome Biogenesis Disorder 13A (Zellweger)
Gray matter heterotopia, Polymicrogyria OMIM:614887
Premature Aging Syndrome, Penttinen Type
Corneal stromal edema, Corneal opacity, Microphthalmia OMIM:601812
Cockayne Syndrome B
Microcornea, Seizure, Hypoplasia of the iris, Developmental cataract, Microphthalmia, Opacificati... OMIM:133540
Holoprosencephaly
Seizure, Chorioretinal coloboma, Anophthalmia, Microphthalmia, Cyclopia, Iris coloboma ORPHA:2162
Alkuraya-Kucinskas Syndrome
Gray matter heterotopia, Lissencephaly OMIM:617822
Dubowitz Syndrome
Microphthalmia, Hypoplasia of the iris, Iris coloboma, Megalocornea OMIM:223370
Bosma Arhinia Microphthalmia Syndrome
Cataract, Coloboma, Microphthalmia OMIM:603457
Mosaic Trisomy 9
Corneal opacity, Microphthalmia ORPHA:99776
Monosomy 13Q14
Cataract, Iris coloboma, Microphthalmia ORPHA:1587
Galloway-Mowat Syndrome 3
Seizure, Microphthalmia OMIM:617729
9Q21.13 Microdeletion Syndrome
Gray matter heterotopia ORPHA:531151
Basal Cell Nevus Syndrome 1
Cataract, Iris coloboma, Microphthalmia OMIM:109400
Rothmund-Thomson Syndrome, Type 2
Cataract, Microcornea, Zonular cataract, Microphthalmia OMIM:268400
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Coloboma, Peters anomaly, Seizure, Microphthalmia OMIM:616975
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Corneal opacity, Microphthalmia ORPHA:364577
Joubert Syndrome With Oculorenal Defect
Abnormality of neuronal migration ORPHA:2318
Aicardi Syndrome
Infantile spasms, Optic disc coloboma, Chorioretinal coloboma, Microphthalmia ORPHA:50
Holoprosencephaly 14
Gray matter heterotopia, Partial agenesis of the corpus callosum, Periventricular heterotopia OMIM:619895
Cerebrooculofacioskeletal Syndrome 4
Bilateral microphthalmos OMIM:610758
Genitourinary And/Or Brain Malformation Syndrome
Polymicrogyria, Agenesis of corpus callosum, Dysplastic corpus callosum, Colpocephaly, Gray matte... OMIM:618820
Coffin-Lowry Syndrome
Abnormality of neuronal migration ORPHA:192
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Microphthalmia ORPHA:2728
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Polymicrogyria, Periventricular heterotopia, Agenesis of corpus callosum, Pachygyria, Lissencepha... ORPHA:468631
Ohdo Syndrome, X-Linked
Seizure, Microphthalmia OMIM:300895
Thanatophoric Dysplasia, Type I
Gray matter heterotopia OMIM:187600
Prader-Willi Syndrome Due To Translocation
Iris hypopigmentation, Seizure, Reduced social reciprocity, Stellate iris, Abnormal social behavior ORPHA:177907
Alg11-Cdg
Gray matter heterotopia ORPHA:280071
Microphthalmia, Syndromic 2
Microcornea, Seizure, Anophthalmia, Phthisis bulbi, Developmental cataract, Microphthalmia, Remna... OMIM:300166
Cntnap2-Related Developmental And Epileptic Encephalopathy
Abnormality of neuronal migration ORPHA:163681
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation
Gray matter heterotopia OMIM:618797
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Cyclopia, Iris coloboma, Microphthalmia ORPHA:3186
Cousin Syndrome
Microcornea, Microphthalmia OMIM:260660
Microphthalmia With Linear Skin Defects Syndrome
Seizure, Anophthalmia, Posterior embryotoxon, Corneal opacity, Microphthalmia, Sclerocornea, Stat... ORPHA:2556
Miller-Dieker Lissencephaly Syndrome
Gray matter heterotopia, Agyria, Lissencephaly, Pachygyria OMIM:247200
Thanatophoric Dysplasia Type 1
Gray matter heterotopia ORPHA:1860
Holoprosencephaly 1
Cyclopia, Seizure, Microphthalmia OMIM:236100
Cockayne Syndrome
Lentiglobus, Cataract, Band keratopathy, Abnormal cornea morphology, Seizure, Keratoconjunctiviti... ORPHA:191
Thrombocytopenia 8, With Dysmorphic Features And Developmental Delay
Gray matter heterotopia OMIM:620475
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Periventricular heterotopia OMIM:618870
Orofaciodigital Syndrome Xvi
Gray matter heterotopia OMIM:617563
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia
Gray matter heterotopia OMIM:608624
Holoprosencephaly 7
Bilateral microphthalmos, Iris coloboma, Seizure, Microphthalmia OMIM:610828
Orofaciodigital Syndrome Type 6
Abnormality of neuronal migration, Hypothalamic hamartoma ORPHA:2754
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Retinal coloboma, Coloboma, Microphthalmia, Iris coloboma, Optic nerve hypoplasia ORPHA:508498
Hallermann-Streiff Syndrome
Developmental cataract, Microphthalmia ORPHA:2108
Autosomal Dominant Kenny-Caffey Syndrome
Developmental cataract, Hypocalcemic seizures, Bilateral microphthalmos ORPHA:93325
Orofaciodigital Syndrome I
Gray matter heterotopia, Abnormal cortical gyration, Hypothalamic hamartoma, Agenesis of corpus c... OMIM:311200
Frontonasal Dysplasia 2
Microphthalmia OMIM:613451
Van Maldergem Syndrome 2
Gray matter heterotopia, Periventricular nodular heterotopia, Subcortical band heterotopia OMIM:615546
Microcephaly-Micromelia Syndrome
Microphthalmia OMIM:251230
Holoprosencephaly 2
Chorioretinal coloboma, Seizure, Remnants of the hyaloid vascular system, Microphthalmia, Cyclopi... OMIM:157170
Opitz-Kaveggia Syndrome
Gray matter heterotopia, Partial agenesis of the corpus callosum OMIM:305450
Holoprosencephaly-Postaxial Polydactyly Syndrome
Cyclopia, Microphthalmia ORPHA:2166
Multiple Acyl-Coa Dehydrogenase Deficiency
Gray matter heterotopia ORPHA:26791
Treacher-Collins Syndrome
Cataract, Iris coloboma, Microphthalmia ORPHA:861
Metachromatic Leukodystrophy, Adult Form
Abnormal social behavior, Seizure ORPHA:309271
Skin Creases, Congenital Symmetric Circumferential, 2
Microcornea, Seizure, Microphthalmia OMIM:616734
Renpenning Syndrome 1
Cataract, Coloboma, Seizure, Microphthalmia OMIM:309500
Bartsocas-Papas Syndrome 1
Axillary pterygium, Popliteal pterygium, Pterygium, Microphthalmia, Opacification of the corneal ... OMIM:263650
Lowe Oculocerebrorenal Syndrome
Seizure, Corneal scarring, Dense posterior cortical cataract, Developmental cataract, Microphthalmia OMIM:309000
Koolen-De Vries Syndrome Due To A Point Mutation
Seizure, Generalized-onset seizure, Inappropriate laughter, Overfriendliness, Focal hemiclonic se... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Seizure, Generalized-onset seizure, Inappropriate laughter, Overfriendliness, Focal hemiclonic se... ORPHA:363958
Oculocerebrorenal Syndrome Of Lowe
Lentiglobus, Cataract, Seizure, Abnormal pupil morphology, Corneal opacity, Microphthalmia, Bupht... ORPHA:534
Myhre Syndrome
Cataract, Seizure, Microphthalmia OMIM:139210
Joubert Syndrome With Hepatic Defect
Abnormality of neuronal migration ORPHA:1454
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Pachygyria, Gray matter heterotopia, Frontal polymicrogyria OMIM:620024
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Cataract, Microphthalmia ORPHA:306542
Chromosome 13Q14 Deletion Syndrome
Iris coloboma, Chorioretinal coloboma, Microphthalmia OMIM:613884
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Cataract, Microphthalmia OMIM:620005
Ventriculomegaly With Cystic Kidney Disease
Gray matter heterotopia OMIM:219730
Fanconi Anemia, Complementation Group N
Microphthalmia OMIM:610832
Peroxisome Biogenesis Disorder 1A (Zellweger)
Gray matter heterotopia, Polymicrogyria OMIM:214100
Fanconi Anemia, Complementation Group F
Microphthalmia OMIM:603467
Meckel Syndrome 14
Microphthalmia OMIM:619879
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Abnormal cortical gyration, Lateral ventricle dilatation, Polymicrogyria, Pachygyria, Agenesis of... OMIM:210710
Vici Syndrome
Gray matter heterotopia, Agenesis of corpus callosum OMIM:242840
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Cataract, Seizure, Generalized non-motor (absence) seizure, Nuclear pulverulent cataract, Sutural... OMIM:612474
Pallister-Hall Syndrome
Seizure, Microphthalmia OMIM:146510
Fryns Syndrome
Opacification of the corneal stroma, Seizure, Microphthalmia OMIM:229850
Tetraamelia Syndrome 1
Cataract, Microphthalmia OMIM:273395
Acromelic Frontonasal Dysostosis
Gray matter heterotopia, Periventricular nodular heterotopia, Agenesis of corpus callosum OMIM:603671
Koolen-De Vries Syndrome
Gray matter heterotopia OMIM:610443
Fanconi Anemia, Complementation Group E
Microphthalmia OMIM:600901
Roberts Syndrome
Cataract, Microphthalmia ORPHA:3103
Fanconi Anemia
Cataract, Aplasia/Hypoplasia of the iris, Astigmatism, Microphthalmia ORPHA:84
Bilateral Perisylvian Polymicrogyria
Abnormality of neuronal migration, Bilateral perisylvian polymicrogyria, Perisylvian predominant ... ORPHA:98889
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Type II lissencephaly, Gray matter heterotopia, Agenesis of corpus callosum OMIM:615287
22Q11.2 Deletion Syndrome
Cataract, Seizure, Corneal neovascularization, Posterior embryotoxon, Microphthalmia ORPHA:567
Fanconi Anemia, Complementation Group A
Microphthalmia OMIM:227650
Teebi-Shaltout Syndrome
Microphthalmia OMIM:272950
Mowat-Wilson Syndrome
Cataract, Microcornea, Seizure, Ectopia pupillae, Chorioretinal coloboma, Microphthalmia, Iris co... OMIM:235730
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies
Gray matter heterotopia OMIM:620654
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Microphthalmia OMIM:616300
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Corneal opacity, Microphthalmia OMIM:608670
Tuberous Sclerosis Complex
Seizure, Epileptic spasm, Infantile spasms, Focal-onset seizure, Status epilepticus, Abnormal soc... ORPHA:805
Fanconi Anemia, Complementation Group C
Microphthalmia OMIM:227645
Isolated Arrhinia
Microphthalmia ORPHA:1134
Monosomy 9P
Seizure, Microphthalmia ORPHA:261112
Periventricular Nodular Heterotopia 9
Gray matter heterotopia, Periventricular nodular heterotopia, Polymicrogyria OMIM:618918
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
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Iris coloboma, Optic disc coloboma, Microphthalmia OMIM:620186
Charge Syndrome