Gene Summary

Name:
forkhead box E3
Synonyms:
FREAC8,  rct

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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.

Phenotype System Allele Zyg Sex Life Stage P Value
hyperactivity Foxe3em1(IMPC)Mbp HOM   Early adult 2.77×10-07
anophthalmia Foxe3em1(IMPC)Mbp HOM Early adult 0.00
abnormal testis morphology Foxe3em1(IMPC)Mbp HOM Early adult 0.00
abnormal skin morphology Foxe3em1(IMPC)Mbp HOM Early adult 0.00
abnormal eye morphology Foxe3em1(IMPC)Mbp HOM Early adult 0.00
small testis Foxe3em1(IMPC)Mbp HOM Early adult 0.00
corneal opacity Foxe3em1(IMPC)Mbp HOM Early adult 7.92×10-06
microphthalmia Foxe3em1(IMPC)Mbp HOM Early adult 0.00

Download data as:  TSV  XLS

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Viewing: all phenotypes

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.

X-ray

XRay Images Whole Body Dorso Ventral

60 Images

X-ray

XRay Images Whole Body Lateral Orientation

20 Images

Human diseases caused by Foxe3 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.

The table below shows human diseases predicted to be associated to Foxe3 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Cataract 4, Multiple Types
Developmental cataract OMIM:115700
Cataract 39, Multiple Types
Developmental cataract OMIM:615188
Cataract 45
Developmental cataract OMIM:616851
Cataract 38
Developmental cataract OMIM:614691
Cataract 13 With Adult I Phenotype
Developmental cataract OMIM:116700
Cataract 37
Developmental cataract OMIM:614422
Cataract 20, Multiple Types
Cataract, Membranous cataract OMIM:116100
Cataract 35
Cataract OMIM:609376
Cataract 36
Cataract OMIM:613887
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 29
Cataract OMIM:115800
Cataract 18
Cataract OMIM:610019
Hypertrophic Neuropathy And Cataract
Cataract OMIM:239900
Facial Paresis, Hereditary Congenital, 1
Decreased corneal reflex OMIM:601471
Cataract 44
Developmental cataract OMIM:616509
Iris Pigment Epithelium Anomalies
Iris cyst OMIM:601616
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Corneal Dystrophy, Subepithelial Mucinous
Corneal dystrophy OMIM:612867
Spondyloepiphyseal Dysplasia With Punctate Corneal Dystrophy
Punctate corneal dystrophy OMIM:183850
Megalocornea
Megalocornea OMIM:249300
Corneal Dystrophy, Band-Shaped
Band-shaped corneal dystrophy OMIM:217500
Cochleosaccular Degeneration With Progressive Cataracts
Progressive cataract OMIM:120040
Corneal Dystrophy, Lisch Epithelial
Corneal dystrophy OMIM:300778
Corneal Dystrophy, Fuchs Endothelial, 8
Corneal dystrophy OMIM:615523
Corneal Degeneration, Band-Shaped Spheroid
Corneal degeneration OMIM:217520
Pupillary Membrane, Persistence Of
Persistent pupillary membrane, Developmental cataract, Megalocornea OMIM:178900
Aniridia 3
Cataract OMIM:617142
Cataract 15, Multiple Types
Developmental cataract, Nuclear cataract, Cataract, Lamellar cataract, Cortical cataract OMIM:615274
Anterior Segment Dysgenesis 5
Developmental cataract, Rieger anomaly, Posterior embryotoxon, Hypoplasia of the iris, Peters ano... OMIM:604229
Cataract 14, Multiple Types
Zonular cataract OMIM:601885
Cornea Guttata With Anterior Polar Cataracts
Anterior polar cataract OMIM:121390
Anterior Segment Dysgenesis 3
Rieger anomaly, Axenfeld anomaly, Posterior embryotoxon, Ectopia pupillae, Peters anomaly, Abnorm... OMIM:601631
Edict Syndrome
Keratoconus, Developmental cataract, Hypoplasia of the iris, Microcornea, Astigmatism OMIM:614303
Autosomal Dominant Keratitis
Aniridia, Coloboma, Bilateral microphthalmos, Macular hypoplasia, Cataract, Keratitis, Microcorne... ORPHA:2334
Cataract 24
Anterior polar cataract OMIM:601202
Microphthalmia, Isolated, With Cataract 1
Cataract, Microphthalmia OMIM:156850
Cataract 5, Multiple Types
Anterior polar cataract, Pulverulent cataract, Nuclear cataract, Lamellar cataract, Zonular cataract OMIM:116800
Bilateral Acute Depigmentation Of The Iris
Abnormal iris pigmentation, Iris pigment dispersion, Pigment deposition in the trabecular meshwor... ORPHA:69736
Cataract 19, Multiple Types
Cortical pulverulent cataract OMIM:615277
Anterior Segment Dysgenesis 8
Persistent pupillary membrane, Uveal ectropion, Ectopia lentis, Microphakia, Hypoplasia of the ir... OMIM:617319
Hydrocephaly-Cerebellar Agenesis Syndrome
Cataract ORPHA:1397
Peters Anomaly
Developmental glaucoma, Peters anomaly, Opacification of the corneal stroma, Subcapsular cataract... ORPHA:708
Anterior Segment Dysgenesis 4
Iris hypopigmentation, Hypoplastic iris stroma OMIM:137600
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome
Cataract ORPHA:73245
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal opacity, Corneal dystrophy OMIM:609140
Microcornea, Glaucoma, And Absent Frontal Sinuses
Microcornea OMIM:156700
Cataract 8, Multiple Types
Developmental cataract, Nuclear cataract OMIM:115665
Oculoauricular Syndrome
Coloboma, Microphakia, Macular hypoplasia, Cataract, Ocular anterior segment dysgenesis, Microcor... OMIM:612109
Cataract 41
Developmental cataract, Nuclear cataract OMIM:116400
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Cataract 22, Multiple Types
Developmental cataract, Nuclear cataract OMIM:609741
Corneal Dystrophy-Perceptive Deafness Syndrome
Corneal opacity, Corneal dystrophy ORPHA:1490
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Cataract, Persistent pupillary membrane, Aplasia/Hypoplasia of the iris, Corneal opacity ORPHA:1067
Coats Disease
Abnormal anterior chamber morphology, Cataract, Aplasia/Hypoplasia of the iris ORPHA:190
Dermochondrocorneal Dystrophy
Corneal dystrophy ORPHA:79149
Cataract 32, Multiple Types
Anterior polar cataract OMIM:115650
Microphthalmia, Isolated, With Coloboma 4
Microphthalmia, Microcornea, Coloboma OMIM:251505
Cataract-Microcornea Syndrome
Iris coloboma, Corneal opacity, Cataract, Microcornea, Corneal dystrophy ORPHA:1377
Cataract 10, Multiple Types
Developmental cataract, Zonular cataract, Posterior Y-sutural cataract OMIM:600881
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Cataract, Microcornea, Aniridia OMIM:106230
Corneal Dystrophy, Endothelial, X-Linked
Band keratopathy, Corneal opacity, Corneal dystrophy OMIM:300779
Galactosialidosis
Corneal opacity ORPHA:351
Cataract 1, Multiple Types
Developmental cataract, Pulverulent cataract, Nuclear cataract, Posterior subcapsular cataract, M... OMIM:116200
Aldh18A1-Related De Barsy Syndrome
Cataract ORPHA:35664
Hyperferritinemia With Or Without Cataract
Pulverulent cataract, Nuclear cataract OMIM:600886
Cataract 12, Multiple Types
Developmental cataract, Progressive cataract OMIM:611597
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microphthalmia, Microcornea, Corneal opacity ORPHA:2432
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome
Corneal opacity, Corneal dystrophy ORPHA:3177
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Cataract OMIM:300719
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Chorioretinal coloboma, Cataract OMIM:274205
Cataract-Nephropathy-Encephalopathy Syndrome
Cataract ORPHA:1380
Cataract 33, Multiple Types
Lamellar cataract, Cortical cataract, Nuclear cataract OMIM:611391
Cataract 16, Multiple Types
Developmental cataract, Posterior polar cataract OMIM:613763
Cataract 7
Developmental cataract OMIM:115660
Dermoids Of Cornea
Corneal opacity OMIM:304730
Nathalie Syndrome
Cataract, Arrhythmia ORPHA:2663
Cataract 9, Multiple Types
Developmental cataract, Iris coloboma, Cataract, Microcornea, Microphthalmia, Progressive cataract OMIM:604219
Trichomegaly
Cataract OMIM:190330
Ataxia-Microcephaly-Cataract Syndrome
Developmental cataract OMIM:208870
Foveal Hypoplasia 1
Hypoplasia of the fovea, Presenile cataracts OMIM:136520
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma
Ectopia lentis, Microspherophakia, Deep anterior chamber, Iridodonesis, Megalocornea OMIM:251750
Corneal Dystrophy, Groenouw Type I
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy OMIM:121900
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Cataract, Hypertrophic cardiomyopathy ORPHA:79281
Cataract-Ataxia-Deafness-Retardation Syndrome
Developmental cataract OMIM:212710
X-Linked Retinoschisis
Cataract ORPHA:792
Cataract 30, Multiple Types
Diffuse nuclear cataract, Posterior polar cataract, Pulverulent cataract OMIM:116300
Cataract 21, Multiple Types
Cortical pulverulent cataract, Microcornea, Iris coloboma, Cerulean cataract OMIM:610202
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy
Sudden cardiac death, Arrhythmia, Juvenile cataract OMIM:212500
Foveal Hypoplasia-Presenile Cataract Syndrome
Cataract ORPHA:2253
Winchester Syndrome
Corneal opacity OMIM:277950
Corneal Dystrophy, Posterior Polymorphous, 1
Uveal ectropion, Corneal opacity, Ectopia pupillae, Iris atrophy, Polymorphous posterior corneal ... OMIM:122000
Microphthalmia, Isolated, With Coloboma 3
Cataract, Iris coloboma, Microphthalmia OMIM:610092
Anterior Segment Dysgenesis 6
Developmental glaucoma, Corneal opacity, Corneal neovascularization, Posterior synechiae of the a... OMIM:617315
Mucous Membrane Pemphigoid
Corneal opacity ORPHA:46486
Corneal Hypesthesia, Familial
Decreased corneal sensation, Recurrent corneal erosions OMIM:122450
Vernal Keratoconjunctivitis
Corneal neovascularization, Abnormal cornea morphology, Abnormal conjunctiva morphology, Punctate... ORPHA:70476
Microcoria, Congenital
Microcoria, Hypoplasia of the iris dilator muscle OMIM:156600
Cataract 17, Multiple Types
Microcornea, Developmental cataract, Pulverulent cataract, Nuclear cataract OMIM:611544
Cataract 3, Multiple Types
Sutural cataract, Developmental cataract, Cerulean cataract, Nuclear pulverulent cataract OMIM:601547
Corneal Dystrophy, Epithelial Basement Membrane
Map-dot-fingerprint corneal dystrophy, Recurrent corneal erosions, Corneal dystrophy OMIM:121820
Microcephaly, Cataracts, Impaired Intellectual Development, And Dystonia With Abnormal Striatum
Developmental cataract OMIM:618284
Anterior Segment Dysgenesis 2
Aniridia, Congenital aphakia, Anterior segment of eye aplasia, Coloboma, Cataract, Peters anomaly... OMIM:610256
Spastic Paraparesis And Deafness
Cataract, Tremor OMIM:312910
Genetic Hyperferritinemia Without Iron Overload
Cataract ORPHA:254704
Microphthalmia, Isolated, With Coloboma 10
Chorioretinal coloboma, Microcoria, Iris coloboma, Microphthalmia, Anophthalmia OMIM:616428
Norrie Disease
Shallow anterior chamber, Hypoplasia of the iris, Cataract, Opacification of the corneal stroma, ... OMIM:310600
Corneal Dystrophy, Avellino Type
Lattice corneal dystrophy OMIM:607541
Glaucoma, Primary Closed-Angle
Anterior synechiae of the anterior chamber OMIM:618880
Galactosemia Iv
Cataract OMIM:618881
Xeroderma Pigmentosum, Complementation Group G
Cataract, Tremor, Microphthalmia OMIM:278780
Posterior Polymorphous Corneal Dystrophy
Increased corneal curvature, Uveal ectropion, Corneal opacity, Ectopia pupillae, Corneal stromal ... ORPHA:98973
Dwarfism, Mental Retardation, And Eye Abnormality
Hypoplasia of the iris, Nuclear cataract OMIM:223540
Apolipoprotein A-I Deficiency
Corneal opacity ORPHA:425
Morquio Syndrome C
Corneal opacity OMIM:252300
Iris Hypoplasia With Glaucoma
Hypoplasia of the iris, Iris atrophy OMIM:308500
Cataract 6, Multiple Types
Developmental cataract, Posterior polar cataract OMIM:116600
Isolated Aniridia
Aniridia, Peters anomaly, Cataract, Aplasia/Hypoplasia of the macula ORPHA:250923
Spinocerebellar Degeneration With Macular Corneal Dystrophy, Congenital Cataracts, And Myopia
Developmental cataract, Corneal dystrophy OMIM:271320
Aniridia 2
Cataract, Aniridia OMIM:617141
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Cataract, Aplasia/Hypoplasia of the lens ORPHA:1381
Anterior Segment Dysgenesis 1
Posterior polar cataract, Ocular anterior segment dysgenesis, Peters anomaly, Opacification of th... OMIM:107250
Congenital Primary Aphakia
Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia, Microphthalmia,... ORPHA:83461
Corneal Dystrophy, Lattice Type I
Lattice corneal dystrophy, Recurrent corneal erosions OMIM:122200
Cornea Plana 1, Autosomal Dominant
Flat cornea OMIM:121400
Cataract, Age-Related Nuclear
Nuclear cataract OMIM:601371
Uncombable Hair Syndrome 2
Juvenile cataract OMIM:617251
Limbal Stem Cell Deficiency
Decreased corneal reflex, Generalized opacification of the cornea, Opacification of the corneal e... ORPHA:171673
Cataract 11, Multiple Types
Cataract, Microphthalmia OMIM:610623
Microspherophakia With Hernia
Microspherophakia, Superior lens subluxation OMIM:157150
Optic Atrophy 3, Autosomal Dominant
Cataract, Tremor OMIM:165300
Isolated Optic Nerve Hypoplasia/Aplasia
Chorioretinal coloboma, Unilateral microphthalmos, Optic disc hypoplasia, Aplasia/Hypoplasia of t... ORPHA:137902
Spinocerebellar Ataxia, Autosomal Recessive 24
Cataract OMIM:617133
Central Cloudy Dystrophy Of Francois
Central corneal dystrophy, Corneal dystrophy OMIM:217600
Schnyder Corneal Dystrophy
Crystalline corneal dystrophy, Corneal dystrophy OMIM:121800
Microspherophakia-Metaphyseal Dysplasia
Microspherophakia, Lens subluxation, Lens coloboma OMIM:157151
Gillespie Syndrome
Hypoplasia of the iris, Aniridia OMIM:206700
Dysequilibrium Syndrome
Cataract ORPHA:1766
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Chorioretinal coloboma, Posterior embryotoxon, Iris coloboma, Corneal opacity, Cataract, Micropht... ORPHA:1473
Galactosemia Ii
Cataract OMIM:230200
Foveal Hypoplasia 2
Axenfeld anomaly, Posterior embryotoxon, Microphthalmia, Hypoplasia of the fovea OMIM:609218
Blindness-Scoliosis-Arachnodactyly Syndrome
Cataract, Microphakia, Lens subluxation ORPHA:171844
Cortical Dysplasia, Complex, With Other Brain Malformations 4
Cataract OMIM:615412
Chorea, Remitting, With Nystagmus And Cataract
Cataract OMIM:601372
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Cataract OMIM:610156
Cataract 2, Multiple Types
Developmental cataract, Microcornea, Nuclear cataract OMIM:604307
Congenital Disorder Of Glycosylation, Type Ii
Cataract, Coloboma OMIM:607906
Alg2-Cdg
Cataract, Iris coloboma ORPHA:79326
Congenital Varicella Syndrome
Cataract, Microphthalmia ORPHA:291
Corneal Degeneration, Ribbonlike, With Deafness
Band keratopathy, Ribbonlike corneal degeneration OMIM:121450
Bilateral Striopallidodentate Calcinosis
Corneal opacity ORPHA:1980
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Cataract, Developmental cataract OMIM:613076
Encephalopathy, Axonal, With Necrotizing Myopathy, Cardiomyopathy, And Cataracts
Cataract, Cardiomyopathy OMIM:225740
Aniridia And Absent Patella
Aniridia, Cataract OMIM:106220
Microcephaly-Microcornea Syndrome, Seemanova Type
Cataract, Microcornea, Microphthalmia ORPHA:2528
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Chorioretinal coloboma, Cataract, Iris coloboma, Microphthalmia OMIM:212550
Dermochondrocorneal Dystrophy
Subepithelial corneal opacities, Anterior cortical cataract, Corneal dystrophy OMIM:221800
Aniridia 1
Aniridia, Anterior subcapsular cataract, Corneal erosion, Macular agenesis, Chorioretinal hypopig... OMIM:106210
Aniridia-Intellectual Disability Syndrome
Aniridia, Cataract, Ectopia lentis, Optic nerve hypoplasia ORPHA:1068
Stickler Syndrome Type 2
Cataract, Corneal opacity ORPHA:90654
Spastic Paraparesis-Deafness Syndrome
Cataract ORPHA:2815
Retinal Dystrophy And Iris Coloboma With Or Without Congenital Cataract
Posterior synechiae of the anterior chamber, Developmental cataract OMIM:616722
Gms Syndrome
Rieger anomaly, Tricuspid regurgitation ORPHA:2090
Cataract 42
Developmental cataract OMIM:115900
Ehlers-Danlos Syndrome, Beasley-Cohen Type
Cataract, Bilateral microphthalmos OMIM:608763
Macular Dystrophy, Corneal
Corneal dystrophy, Punctate opacification of the cornea, Recurrent corneal erosions OMIM:217800
Nathalie Syndrome
Cataract, Abnormal EKG OMIM:255990
Chromosome 11P13 Deletion Syndrome, Distal
Aniridia OMIM:616902
Peroxisome Biogenesis Disorder 10A (Zellweger)
Cataract OMIM:614882
Axenfeld-Rieger Syndrome, Type 3
Hypoplasia of the iris, Ectopia pupillae, Posterior embryotoxon OMIM:602482
Ring Dermoid Of Cornea
Abnormal conjunctiva morphology, Corneal astigmatism, Abnormal cornea morphology, Conjunctival de... OMIM:180550
Spinocerebellar Degeneration And Corneal Dystrophy
Opacification of the corneal stroma, Corneal dystrophy OMIM:271310
Exfoliation Syndrome
Anisocoria, Pigment deposition in the trabecular meshwork, Cataract, Pseudoexfoliation, Abnormali... OMIM:177650
X-Linked Endothelial Corneal Dystrophy
Band keratopathy, Corneal opacity, Nuclear cataract, Abnormal corneal endothelium morphology ORPHA:293621
Corneal Dystrophy And Perceptive Deafness
Opacification of the corneal stroma, Corneal dystrophy OMIM:217400
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Cataract OMIM:254000
Microphthalmia, Isolated 6
Microcornea, Microphthalmia OMIM:613517
Weill-Marchesani Syndrome 3
Shallow anterior chamber, Ectopia lentis, Microspherophakia, Pulmonic stenosis, Aortic valve sten... OMIM:614819
Cataract 40
Sutural cataract, Nuclear cataract OMIM:302200
Bardet-Biedl Syndrome 18
Cataract OMIM:615995
Autosomal Recessive Spastic Paraplegia Type 69
Cataract, Hand tremor ORPHA:401830
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Mental Retardation
Microphthalmia, Cataract, Coloboma OMIM:120433
Iris Pigment Layer, Cleavage Of
Cataract OMIM:147610
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Coloboma, Iris coloboma, Ocular anterior segment dysgenesis, Peters anomaly, Microphthalmia OMIM:610023
Ectopia Lentis Et Pupillae
Cataract, Persistent pupillary membrane, Ectopia lentis OMIM:225200
WAGR 11p13 deletion syndrome
Aniridia DECIPHER:35
Wagr Syndrome
Cataract, Aplasia/Hypoplasia of the iris ORPHA:893
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Cataract, Microcornea, Microphthalmia OMIM:616171
Megalocornea
Decreased corneal thickness, Mosaic corneal dystrophy, Deep anterior chamber, Iridodonesis, Catar... OMIM:309300
Keratitis, Hereditary
Keratitis, Opacification of the corneal stroma OMIM:148190
Woolly Hair
Cataract, Abnormal pupil morphology ORPHA:170
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Coloboma, Ectopia pupillae, Cataract, Microcornea, Microphthalmia, Sclerocornea, Anophthalmia OMIM:615877
Microphthalmia, Isolated, With Coloboma 5
Chorioretinal coloboma, Iris coloboma, Bilateral microphthalmos, Microphthalmia, Anophthalmia OMIM:611638
Retinitis Pigmentosa 86
Cortical cataract OMIM:618613
Corneal Dystrophy, Reis-Bucklers Type
Corneal dystrophy, Opacification of the corneal stroma, Corneal erosion OMIM:608470
Waardenburg Syndrome, Type 2A
Heterochromia iridis, Hypoplastic iris stroma OMIM:193510
Glaucoma 1, Open Angle, A
Abnormal iris vasculature OMIM:137750
Anterior Segment Dysgenesis 7
Buphthalmos, Cataract, Ocular anterior segment dysgenesis, Microcornea, Microphthalmia, Sclerocornea OMIM:269400
Spastic Ataxia-Corneal Dystrophy Syndrome
Developmental cataract, Corneal dystrophy ORPHA:2572
Familial pterygium of the conjunctiva
Opacification of the corneal stroma ORPHA:2989
2Q24 Microdeletion Syndrome
Microphthalmia, Cataract, Abnormality iris morphology, Coloboma ORPHA:1617
Glaucoma 3, Primary Congenital, D
Primary congenital glaucoma, Ectopia lentis, Corneal opacity OMIM:613086
Xeroderma Pigmentosum, Complementation Group D
Cataract, Conjunctivitis, Keratoconjunctivitis sicca, Keratitis, Microphthalmia, Corneal neovascu... OMIM:278730
Thiel-Behnke Corneal Dystrophy
Subepithelial corneal opacities, Central corneal dystrophy, Opacification of the corneal stroma, ... ORPHA:98960
Corneal Dystrophy, Lattice Type Iiia
Lattice corneal dystrophy, Corneal erosion OMIM:608471
Cataract, Microcephaly, Failure To Thrive, Kyphoscoliosis Syndrome
Cataract OMIM:212540
Spondylo-Ocular Syndrome
Iris hypopigmentation, Cataract, Microphthalmia, Aplasia/Hypoplasia of the lens ORPHA:85194
Cataract-Hypertrichosis-Intellectual Disability Syndrome
Developmental cataract ORPHA:1375
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Iris hypopigmentation, Microcornea, Iris coloboma, Anterior synechiae of the anterior chamber ORPHA:3214
Atopic Keratoconjunctivitis
Chemosis, Corneal opacity, Keratitis, Keratoconjunctivitis sicca, Corneal neovascularization ORPHA:163934
Charcot-Marie-Tooth Disease Type 1B
Abnormal pupil morphology ORPHA:101082
Retinal Dystrophy With Or Without Macular Staphyloma
Nuclear cataract OMIM:617547
Corneal Dystrophy, Posterior Amorphous
Ectopia pupillae, Iris coloboma, Corneal dystrophy OMIM:612868
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Cataract OMIM:609115
Aniridia, Partial, With Unilateral Renal Agenesis And Psychomotor Retardation
Aniridia, Developmental glaucoma OMIM:206750
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Chorioretinal coloboma, Remnants of the hyaloid vascular system, Posterior lenticonus, Iris colob... ORPHA:231736
Myopathy, Tubular Aggregate, 1
Abnormal pupil morphology OMIM:160565
Optic Atrophy 10 With Or Without Ataxia, Mental Retardation, And Seizures
Cerulean cataract OMIM:616732
Leber Congenital Amaurosis 7
Keratoconus, Cataract OMIM:613829
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
Cataract ORPHA:2278
Aniridia-Cerebellar Ataxia-Intellectual Disability Syndrome
Aniridia ORPHA:1065
Congenital Corneal Opacities, Cornea Guttata, And Corectopia
Ectopia pupillae, Corneal opacity OMIM:608484
Microphthalmia, Syndromic 13
Microphthalmia, Microcornea, Coloboma OMIM:300915
Cataract 47
Cataract, Microcornea OMIM:612018
Lattice Corneal Dystrophy Type I
Decreased corneal sensation, Recurrent corneal erosions, Central posterior corneal opacity, Subep... ORPHA:98964
Ichthyosis, X-Linked
Opacification of the corneal stroma OMIM:308100
Gms Syndrome
Rieger anomaly, Tricuspid regurgitation OMIM:138770
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Microphthalmia, Ocular anterior segment dysgenesis, Developmental cataract, Coloboma ORPHA:324416
Aniridia-Absent Patella Syndrome
Aniridia, Cataract ORPHA:1069
Cataract 31, Multiple Types
Posterior subcapsular cataract, Nuclear cataract, Anterior subcapsular cataract OMIM:605387
Intellectual Developmental Disorder With Poor Growth And With Or Without Seizures Or Ataxia
Developmental cataract OMIM:618808
Gómez-López-Hernández Syndrome
Corneal opacity ORPHA:1532
Isolated Ectopia Lentis
Cataract, Hypertension, Ectopia lentis, Ectopia pupillae ORPHA:1885
Immunodeficiency 10
Hypoplasia of the iris OMIM:612783
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Buphthalmos, Shallow anterior chamber, Remnants of the hyaloid vascular system, Persistent pupill... OMIM:221900
Loose Anagen Syndrome
Iris coloboma ORPHA:168
X-Linked Recessive Ocular Albinism
Iris hypopigmentation, Ocular albinism, Astigmatism, Abnormal pupil morphology, Hypoplasia of the... ORPHA:54
Corneal Dystrophy, Gelatinous Drop-Like
Corneal dystrophy OMIM:204870
Palmoplantar Carcinoma, Multiple Self-Healing
Limbal stem cell deficiency, Corneal neovascularization OMIM:615225
Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type
Cataract OMIM:300261
Leber Congenital Amaurosis 8
Keratoconus, Choriocapillaris atrophy, Cataract OMIM:613835
Retinitis Pigmentosa 84
Cataract, Macular coloboma OMIM:618220
Corneal Dystrophy, Fleck
Speckled corneal dystrophy OMIM:121850
Retinitis Pigmentosa 74
Posterior polar cataract OMIM:616562
Intellectual Disability-Cataracts-Kyphosis Syndrome
Cataract, Iris coloboma ORPHA:171860
Distal Monosomy 6P
Anterior synechiae of the anterior chamber, Posterior embryotoxon, Corneal opacity, Hypoplasia of... ORPHA:96125
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Leg, Absence Deformity Of, With Congenital Cataract
Developmental cataract, Progressive cataract OMIM:246000
Yemenite Deaf-Blind Hypopigmentation Syndrome
Chorioretinal coloboma, Microcornea, Iris coloboma OMIM:601706
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Developmental cataract, Corneal opacity, Dilated cardiomyopathy, Bradycardia, Hypertrophic cardio... OMIM:618815
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Cataract OMIM:617393
Kahrizi Syndrome
Cataract, Iris coloboma OMIM:612713
X-Linked Intellectual Disability, Stocco Dos Santos Type
Cataract ORPHA:85288
Weill-Marchesani Syndrome 4
Iridodonesis, Phakodonesis, Ectopia lentis OMIM:613195
D-Lactic Aciduria With Gout
Aniridia OMIM:245450
Cataract-Deafness-Hypogonadism Syndrome
Developmental cataract ORPHA:1383
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome
Cataract, Hypertrophic cardiomyopathy, Corneal dystrophy ORPHA:1369
Microphthalmia, Isolated 3
Microphthalmia, Sclerocornea, Anophthalmia OMIM:611038
Short Syndrome
Posterior embryotoxon, Corneal opacity, Hypoplasia of the iris, Megalocornea, Abnormal anterior c... ORPHA:3163
Developmental And Epileptic Encephalopathy 35
Cataract, Cardiomyopathy, Limb tremor OMIM:616647
Absence Deformity Of Leg-Cataract Syndrome
Cataract ORPHA:2310
Hec Syndrome
Developmental cataract, Arrhythmia, Abnormal pupil morphology, Cardiomyopathy ORPHA:2119
Exudative Vitreoretinopathy 6
Cataract, Chorioretinal atrophy OMIM:616468
Microphthalmia, Isolated, With Corectopia
Ectopia pupillae, Microphthalmia OMIM:156900
N Syndrome
Megalocornea ORPHA:2608
Nivelon-Nivelon-Mabille Syndrome
Hypoplasia of the iris OMIM:600092
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Cataract OMIM:618660
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Cataract, Microcornea OMIM:619082
Pierson Syndrome
Hypoplasia of the ciliary body, Microcoria, Posterior lenticonus, Hypoplasia of the iris OMIM:609049
Microphthalmia, Isolated 2
Opacification of the corneal stroma OMIM:610093
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Corneal opacity ORPHA:2370
Corneal Dystrophy, Meesmann, 1
Punctate opacification of the cornea, Corneal dystrophy OMIM:122100
Heterochromia Iridis
Asymmetry of iris pigmentation, Heterochromia iridis OMIM:142500
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Cataract, Hypertrophic cardiomyopathy OMIM:615418
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Rieger anomaly, Abnormally prominent line of Schwalbe OMIM:109120
Keratoendotheliitis Fugax Hereditaria
Keratitis, Opacification of the corneal stroma, Conjunctival hyperemia OMIM:148200
Thanatophoric Dysplasia, Glasgow Variant
Cataract OMIM:273680
Upper Limb Defect-Eye And Ear Abnormalities Syndrome
Chorioretinal coloboma, Cataract ORPHA:2489
Congenital Rubella Syndrome
Microphthalmia, Cataract, Aplasia/Hypoplasia of the iris, Corneal opacity ORPHA:290
Peroxisome Biogenesis Disorder 8A (Zellweger)
Cataract OMIM:614876
Leber Congenital Amaurosis 6
Keratoconus, Cataract OMIM:613826
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Retinal coloboma, Cataract, Microphthalmia ORPHA:363741
Blue Cone Monochromatism
Corneal dystrophy ORPHA:16
Cahmr Syndrome
Lamellar cataract OMIM:211770
Proximal Myotonic Myopathy
Cataract ORPHA:606
Hypomyelination-Congenital Cataract Syndrome
Developmental cataract ORPHA:85163
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Retinal coloboma, Cataract, Microphthalmia OMIM:601794
Deafness, Autosomal Recessive 108
Iris coloboma OMIM:617654
Amoebic Keratitis
Decreased corneal sensation, Abnormal corneal epithelium morphology, Corneal perforation, Catarac... ORPHA:67043
Mucolipidosis Type Iii
Corneal opacity ORPHA:577
Uveal Melanoma
Inferior lens subluxation, Mydriasis, Vitreous hemorrhage, Ciliary body melanoma, Zonular catarac... ORPHA:39044
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Microphthalmia, Cataract, Chorioretinal dysplasia OMIM:251270
3-Methylglutaconic Aciduria, Type Vii
Cataract OMIM:616271
Axenfeld-Rieger Syndrome
Abnormal anterior chamber morphology, Posterior embryotoxon, Aplasia/Hypoplasia of the iris ORPHA:782
Idiopathic Anterior Uveitis
Posterior synechiae of the anterior chamber, Posterior subcapsular cataract, Nuclear cataract ORPHA:280914
Spastic Paraplegia 64, Autosomal Recessive
Developmental cataract OMIM:615683
Coloboma, Ocular, Autosomal Dominant
Chorioretinal coloboma, Remnants of the hyaloid vascular system, Corneal opacity, Peters anomaly,... OMIM:120200
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Microphthalmia, Cataract, Corneal opacity, Coloboma OMIM:613153
Otodental Syndrome
Retinal coloboma, Iris coloboma, Lens coloboma, Cataract, Microcornea, Microphthalmia ORPHA:2791
Mucoepithelial Dysplasia, Hereditary
Melena, Cataract, Opacification of the corneal stroma, Corneal neovascularization, Keratoconjunct... OMIM:158310
X-Linked Intellectual Disability-Retinitis Pigmentosa Syndrome
Iris hypopigmentation ORPHA:85332
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts
Cataract OMIM:183800
Marsili Syndrome
Decreased corneal reflex OMIM:147430
Pellagra-Like Syndrome
Cataract OMIM:260650
Waardenburg Syndrome, Type 2D
Heterochromia iridis OMIM:608890
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Glaucoma-Ectopia Lentis-Microspherophakia-Stiff Joints-Short Stature Syndrome
Ectopia lentis ORPHA:2084
Congenital Hereditary Endothelial Dystrophy Type Ii
Irregular astigmatism, Corneal opacity, Increased corneal thickness, Corneal stromal edema, Abnor... ORPHA:293603
Biemond Syndrome Ii
Iris coloboma OMIM:210350
Leber Congenital Amaurosis 2
Keratoconus, Cataract OMIM:204100
Polycystic Kidney, Cataract, And Congenital Blindness
Microcoria, Cataract, Hypoplasia of the retina OMIM:263100
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation
Cataract, Band keratopathy OMIM:604278
Corneal Dystrophy, Fuchs Endothelial, 1
Descemet Membrane Folds, Corneal degeneration, Corneal stromal edema, Corneal guttata, Corneal dy... OMIM:136800
Fish-Eye Disease
Opacification of the corneal stroma OMIM:136120
Wagner Vitreoretinopathy
Cataract, Chorioretinal atrophy OMIM:143200
Bartsocas-Papas Syndrome 2
Axillary pterygium, Corneal opacity, Microphthalmia, Antecubital pterygium, Popliteal pterygium OMIM:619339
Megalocornea-Intellectual Disability Syndrome
Hypoplasia of the iris, Iridodonesis, Megalocornea, Abnormal anterior chamber morphology, Astigma... ORPHA:2479
Autoinflammation With Arthritis And Dyskeratosis
Keratoconjunctivitis sicca, Corneal neovascularization, Uveitis, Punctate keratitis OMIM:617388
Corneal Dystrophy, Congenital Stromal
Increased corneal thickness, Congenital corneal dystrophy OMIM:610048
Microphthalmia With Brain And Digit Anomalies
Chorioretinal coloboma, Iris coloboma, Cataract, Microcornea, Microphthalmia, Sclerocornea, Anoph... ORPHA:139471
Axenfeld-Rieger Syndrome, Type 1
Aniridia, Polycoria, Rieger anomaly, Posterior embryotoxon, Hypoplasia of the iris, Megalocornea,... OMIM:180500
Cataract 23, Multiple Types
Lamellar cataract OMIM:610425
Mental Retardation, Autosomal Dominant 52
Cryptorchidism, Hyperactivity OMIM:617796
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Cataract ORPHA:1875
Mucolipidosis Iv
Opacification of the corneal stroma, Corneal opacity OMIM:252650
Peroxisome Biogenesis Disorder 2B
Polar cataract OMIM:202370
Neurofibromatosis, Type Ii
Juvenile posterior subcapsular lenticular opacities, Cortical cataract OMIM:101000
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Arrhythmia, Abnormal pupil morphology, Prolonged QT interval ORPHA:2151
Microphthalmia, Syndromic 12
Cryptorchidism, Bicornuate uterus, Microphthalmia, Anophthalmia OMIM:615524
Combined Oxidative Phosphorylation Deficiency 31
Cataract, Hypertrophic cardiomyopathy OMIM:617228
Cochleosaccular Degeneration-Cataract Syndrome
Cataract ORPHA:3233
Triopia
Abnormal pupil morphology, Microcornea, Iris coloboma ORPHA:3374
Retinitis Pigmentosa 2
Cataract, Chorioretinal degeneration OMIM:312600
Isolated Split Hand-Split Foot Malformation
Aniridia ORPHA:2440
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome
Microcornea, Iris coloboma OMIM:615147
Retinitis Pigmentosa 37
Cataract OMIM:611131
Microphthalmia, Isolated, With Coloboma 9
Iris coloboma, Ocular anterior segment dysgenesis, Microcornea, Microphthalmia, Sclerocornea OMIM:615145
Alg8-Cdg
Cataract ORPHA:79325
Retinitis Pigmentosa 4
Cataract OMIM:613731
Glaucoma 3, Primary Congenital, E
Megalocornea OMIM:617272
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Cataract, Microcornea, Microphthalmia, Intention tremor ORPHA:48431
Xp22.3 Microdeletion Syndrome
Aplasia/Hypoplasia affecting the eye, Opacification of the corneal stroma ORPHA:1643
Scheie Syndrome
Aortic valve stenosis, Corneal opacity, Aortic regurgitation OMIM:607016
Ectopia Lentis 2, Isolated, Autosomal Recessive
Ectopia lentis OMIM:225100
Myopia 17, Autosomal Dominant
Presenile cataracts OMIM:608367
Ectopia Lentis 1, Isolated, Autosomal Dominant
Ectopia lentis OMIM:129600
Leber Congenital Amaurosis 16
Cataract OMIM:614186
Encephalocraniocutaneous Lipomatosis
Hypoplasia of the iris, Microphthalmia, Sclerocornea, Abnormal anterior chamber morphology, Limba... OMIM:613001
Oculopalatocerebral Syndrome
Leukocoria, Remnants of the hyaloid vascular system, Microphthalmia OMIM:257910
Galactose Epimerase Deficiency
Cataract ORPHA:79238
Erythrokeratodermia Variabilis
Cataract, Corneal opacity ORPHA:317
Cat-Eye Syndrome
Chorioretinal coloboma, Iris coloboma, Microphthalmia ORPHA:195
Corneal Dystrophy, Fuchs Endothelial, 2
Corneal guttata, Corneal degeneration, Corneal dystrophy OMIM:610158
Megalocornea-Mental Retardation Syndrome
Hypoplasia of the iris, Megalocornea, Iridodonesis OMIM:249310
Sjogren-Larsson Syndrome
Opacification of the corneal epithelium OMIM:270200
Corneal Dystrophy, Posterior Polymorphous, 4
Ectopia pupillae OMIM:618031
Microphthalmia, Syndromic 8
Microcornea, Microphthalmia OMIM:601349
Intellectual Developmental Disorder And Retinitis Pigmentosa
Cataract OMIM:618195
Nance-Horan Syndrome
Cataract, Microcornea, Microphthalmia ORPHA:627
Retinitis Pigmentosa 9
Cataract OMIM:180104
Peroxisome Biogenesis Disorder 11B
Cataract OMIM:614885
Corneal Dystrophy, Fuchs Endothelial, 4
Corneal guttata, Corneal dystrophy OMIM:613268
Congenital Cataracts, Hearing Loss, And Neurodegeneration
Cataract, Developmental cataract OMIM:614482
Dilution, Pigmentary
Iris hypopigmentation OMIM:126070
X-Linked Immunoneurologic Disorder
Cataract ORPHA:2571
Nail-Patella Syndrome
Keratoconus, Microphakia, Cataract, Microcornea, Antecubital pterygium, Lester's sign OMIM:161200
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability
Cataract OMIM:617404
Intermediate Uveitis
Cataract, Anterior uveitis, Posterior synechiae of the anterior chamber, Band keratopathy, Vascul... ORPHA:279914
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation
Chorioretinal lacunae, Chorioretinal dysplasia, Corneal opacity, Cataract, Microcornea, Microphth... OMIM:152950
Chondrodysplasia-Disorder Of Sex Development Syndrome
Hypoplasia of the iris, Chorioretinal coloboma ORPHA:1422
Idiopathic Uveal Effusion Syndrome
Abnormal anterior eye segment morphology, Microphthalmia ORPHA:209956
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Aniridia, Developmental glaucoma, Corneal opacity ORPHA:1064
Microphthalmia, Isolated 5
Cataract, Microphthalmia OMIM:611040
Cofs Syndrome
Cataract, Microphthalmia ORPHA:1466
Rutherfurd Syndrome
Opacification of the corneal stroma, Corneal dystrophy OMIM:180900
3-Methylglutaconic Aciduria Type 4
Iris hypopigmentation, Cataract, Cardiomyopathy ORPHA:67048
Myopathy, Myofibrillar, 2
Cataract, Hypertrophic cardiomyopathy OMIM:608810
Hurler-Scheie Syndrome
Corneal opacity, Cardiomyopathy ORPHA:93476
Epithelial Recurrent Erosion Dystrophy
Corneal erosion OMIM:122400
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Idiopathic Panuveitis
Posterior synechiae of the anterior chamber, Cataract, Choroidal neovascularization, Conjunctival... ORPHA:280921
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Arrhythmia, Hypertension, Cataract, Pulmonary embolism, Congestive heart failure, Hypertrophic ca... ORPHA:1345
Oculocerebral Hypopigmentation Syndrome Of Preus
Cataract OMIM:257790
Lcat Deficiency
Corneal opacity, Hypertension ORPHA:650
Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, And Cerebellar Atrophy
Developmental cataract OMIM:608278
Peroxisomal Fatty Acyl-Coa Reductase 1 Disorder
Cataract OMIM:616154
Nasopalpebral Lipoma-Coloboma Syndrome
Coloboma, Corneal opacity, Bilateral microphthalmos, Cataract, Microphthalmia, Conjunctival hyper... ORPHA:2399
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14
Cataract, Cardiomyopathy OMIM:615352
Sveinsson Chorioretinal Atrophy
Peripapillary chorioretinal atrophy, Astigmatism OMIM:108985
Cataract 43
Subcapsular cataract OMIM:616279
Donnai-Barrow Syndrome
Hypoplasia of the iris, Cataract, Iris coloboma OMIM:222448
Nephroblastoma
Aniridia, Hypertension ORPHA:654
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Cataract OMIM:608227
Pelvis-Shoulder Dysplasia
Opacification of the corneal stroma, Iris coloboma, Microphthalmia OMIM:169550
Microcephaly-Brachydactyly-Kyphoscoliosis Syndrome
Cataract ORPHA:3433
Microphthalmia, Isolated 4
Absent testis, Microphthalmia OMIM:613094
Ophthalmomandibulomelic Dysplasia
Megalocornea, Corneal opacity ORPHA:2741
Olmsted Syndrome 1
Opacification of the corneal stroma, Corneal opacity OMIM:614594
Cataract, Congenital, With Mental Impairment And Dentate Gyrus Atrophy
Developmental cataract OMIM:607674
Ophthalmoplegia, Familial Static
Anisocoria OMIM:165000
Oculocutaneous Albinism Type 6
Abnormal iris pigmentation, Aplasia/Hypoplasia of the macula ORPHA:370097
Albinism, Oculocutaneous, Type Iv
Macular hypoplasia, Blue irides OMIM:606574
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Cataract OMIM:613154
Corneal Hypesthesia With Retinal Abnormalities, Sensorineural Deafness, Unusual Facies, Persistent Ductus Arteriosus, And Mental Retardation
Decreased corneal sensation, Keratitis OMIM:122430
Corneal Dystrophy, Fuchs Endothelial, 6
Corneal stromal edema, Keratitis, Corneal guttata, Abnormal Descemet membrane morphology, Corneal... OMIM:613270
Cataract-Aberrant Oral Frenula-Growth Delay Syndrome
Cataract ORPHA:1373
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type
Cataract ORPHA:85172
Adult-Onset Multiple Mitochondrial Dna Deletion Syndrome Due To Dguok Deficiency
Cataract ORPHA:329314
Moebius Syndrome-Axonal Neuropathy-Hypogonadotropic Hypogonadism Syndrome
Decreased corneal reflex ORPHA:2560
Peroxisome Biogenesis Disorder 9B
Cataract, Cardiomyopathy OMIM:614879
Usher Syndrome Type 3
Iris hypopigmentation, Astigmatism, Cataract ORPHA:231183
Hemochromatosis, Type 4
Cataract, Arrhythmia, Cardiomyopathy OMIM:606069
Griscelli Syndrome Type 3
Iris hypopigmentation ORPHA:79478
Temtamy Syndrome
Chorioretinal coloboma, Iris coloboma, Telecanthus, Microphthalmia, Aortic aneurysm ORPHA:1777
Hypogonadism-Cataract Syndrome
Cataract OMIM:240950
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Rodrigues Blindness
Microcornea, Microphthalmia, Sclerocornea OMIM:268320
Waardenburg Syndrome, Type 2B
Heterochromia iridis OMIM:600193
Alport Syndrome 3, Autosomal Dominant
Anterior polar cataract, Lenticonus OMIM:104200
Severe Neurodevelopmental Disorder With Feeding Difficulties-Stereotypic Hand Movement-Bilateral Cataract
Juvenile cataract ORPHA:500545
Vitreoretinochoroidopathy
Retinal arteriolar occlusion, Pigmentary retinopathy, Abnormality of chorioretinal pigmentation, ... OMIM:193220
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Developmental cataract, Ischemic stroke, Polycoria, Corneal opacity, Hypoplasia of the iris, Ecto... OMIM:175780
Fish-Eye Disease
Angina pectoris, Corneal opacity ORPHA:79292
Short Syndrome
Cataract, Megalocornea, Rieger anomaly OMIM:269880
Mucopolysaccharidoses, Unclassified Types
Opacification of the corneal stroma OMIM:252700
Epithelial Recurrent Erosion Dystrophy
Irregular astigmatism, Recurrent corneal erosions, Subepithelial corneal opacities, Corneal scarr... ORPHA:293381
Cataract-Ataxia-Deafness Syndrome
Developmental cataract, Tremor ORPHA:1368
Leber Congenital Amaurosis 1
Keratoconus, Cataract OMIM:204000
Sialidosis Type 2
Tremor, Corneal opacity ORPHA:87876
Microcornea, Myopic Chorioretinal Atrophy, And Telecanthus
Posterior subcapsular cataract, Chorioretinal degeneration, Microcornea OMIM:615458
Triokinase And Fmn Cyclase Deficiency Syndrome
Dilated cardiomyopathy, Cataract, Microphthalmia, Reduced systolic function OMIM:618805
Amyloidosis Of Gingiva And Conjunctiva, With Mental Retardation
Opacification of the corneal stroma OMIM:204850
Developmental And Epileptic Encephalopathy 73
Cataract OMIM:618379
Galactose Mutarotase Deficiency
Cataract ORPHA:570422
Insulinomatosis And Diabetes Mellitus
Developmental glaucoma, Developmental cataract OMIM:147630
Achromatopsia 3
Cataract OMIM:262300
Gombo Syndrome
Delayed puberty, Microphthalmia OMIM:233270
X-Linked Dominant Chondrodysplasia Punctata
Cataract, Microcornea, Microphthalmia ORPHA:35173
Brachyolmia Type 1, Toledo Type
Opacification of the corneal stroma OMIM:271630
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia, Ataxia OMIM:615771
Aortic Aneurysm, Familial Thoracic 4
Abnormal iris pigmentation, Ascending aortic dissection, Aortic regurgitation, Patent ductus arte... OMIM:132900
Microphthalmia, Isolated, With Coloboma 7
Microphthalmia, Coloboma OMIM:614497
Cerebrooculofacioskeletal Syndrome 2
Cataract, Developmental cataract, Microphthalmia OMIM:610756
Dwarfism With Stiff Joints And Ocular Abnormalities
Cataract OMIM:127200
Macular Corneal Dystrophy
Decreased corneal sensation, Decreased corneal thickness, Opacification of the corneal stroma, Co... ORPHA:98969
Supernumerary Nostril
Developmental cataract, Microcornea ORPHA:141096
Retinopathy, Pigmentary, And Mental Retardation
Cataract OMIM:268050
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1
Cataract, Intention tremor OMIM:224050
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Cataract, Optic nerve hypoplasia, Microphthalmia OMIM:615181
Herpes Simplex Virus Stromal Keratitis
Descemet Membrane Folds, Decreased corneal sensation, Corneal perforation, Deep anterior chamber,... ORPHA:137599
Microphthalmia, Syndromic 5
Coloboma, Cataract, Microcornea, Microphthalmia, Optic nerve hypoplasia, Anophthalmia OMIM:610125
1Q21.1 Microduplication Syndrome
Cataract ORPHA:250994
Maternally-Inherited Diabetes And Deafness
Abnormal chorioretinal morphology, Arrhythmia, Hypertension, Cataract, Congestive heart failure, ... ORPHA:225
Ceroid Lipofuscinosis, Neuronal, 3
Cataract, Concentric hypertrophic cardiomyopathy OMIM:204200
Corneal Endothelial Dystrophy
Increased corneal thickness, Congenital corneal dystrophy, Opacification of the corneal stroma, A... OMIM:217700
Horner Syndrome, Congenital
Heterochromia iridis OMIM:143000
Oculomaxillofacial Dysostosis
Aplasia/Hypoplasia affecting the eye, Corneal opacity ORPHA:1794
Microcornea-Glaucoma-Absent Frontal Sinuses Syndrome
Microcornea ORPHA:2536
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs
Iris atrophy, Ectopia lentis, Microphthalmia OMIM:601552
Mental Retardation, Autosomal Dominant 45
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617600
Klippel-Feil Syndrome 3, Autosomal Dominant
Chorioretinal coloboma, Iris coloboma OMIM:613702
Linear Verrucous Nevus Syndrome
Cataract, Aplasia/Hypoplasia of the fovea, Abnormal cornea morphology, Iris coloboma ORPHA:2611
Neovascular Glaucoma
Retinal vein occlusion, Abnormal posterior eye segment morphology, Iris neovascularization, Abnor... ORPHA:94058
Transgrediens Et Progrediens Palmoplantar Keratoderma
Corneal dystrophy ORPHA:495
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Ectopia pupillae, Astigmatism, Cataract, Microphthalmia OMIM:618727
Leber Congenital Amaurosis
Keratoconus, Cataract ORPHA:65
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Attention deficit hyperactivity disorder, Hyperactivity OMIM:301008
Cat-Eye Syndrome (Type I)
Iris coloboma DECIPHER:42
Macrophthalmia, Colobomatous, With Microcornea
Microcornea, Coloboma OMIM:602499
Oculocutaneous Albinism, Type Viii
Hypoplasia of the fovea, Chorioretinal hypopigmentation, Iris transillumination defect OMIM:619165
Ectodermal Dysplasia-Blindness Syndrome
Cataract, Keratoconjunctivitis sicca, Microcornea, Microphthalmia, Sclerocornea, Corneal dystrophy ORPHA:1806
Recessive X-Linked Ichthyosis
Opacification of the corneal stroma ORPHA:461
Anisocoria
Anisocoria OMIM:106240
Dermatitis, Atopic
Keratoconus, Cataract, Conjunctivitis OMIM:603165
Hereditary Bullous Dystrophy, Macular Type
Cataract, Heart murmur, Corneal opacity ORPHA:1867
Brittle Cornea Syndrome 2
Keratoconus, Decreased corneal thickness, Keratoglobus, Megalocornea, Flat cornea, Sclerocornea OMIM:614170
Kleeblattschaedel
Recurrent corneal erosions OMIM:148800
Autosomal Recessive Spastic Paraplegia Type 25
Developmental glaucoma, Developmental cataract ORPHA:101005
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Cataract OMIM:613730
Myopia, High, With Cataract And Vitreoretinal Degeneration
Cataract, Lens subluxation OMIM:614292
Corneal Dystrophy, Posterior Polymorphous, 3
Corneal guttata, Corneal dystrophy OMIM:609141
Coloboma, Ocular, Autosomal Recessive
Retinal coloboma, Cataract, Iris coloboma, Lens subluxation OMIM:216820
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Cataract, Microphthalmia OMIM:614105
Lecithin:Cholesterol Acyltransferase Deficiency
Opacification of the corneal stroma OMIM:245900
Cutis Laxa, Autosomal Dominant 3
Developmental cataract, Corneal opacity, Aortic regurgitation OMIM:616603
Vitreoretinal Degeneration, Snowflake Type
Cataract, Corneal guttata OMIM:193230
Macrosomia With Microphthalmia, Lethal
Microphthalmia OMIM:248110
Cornea Plana 2, Autosomal Recessive
Flat cornea, Decreased corneal thickness, Corneal arcus OMIM:217300
Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome