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Gene: Foxe3 MGI:1353569

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Gene Summary

Name:
forkhead box E3
Synonyms:
FREAC8,  rct

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IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
hyperactivity Foxe3em1(IMPC)Mbp HOM   Early adult 3.45×10-07
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 4.69×10-06
increased vertical activity Foxe3em1(IMPC)Mbp HOM   Early adult 3.80×10-06
microphthalmia Foxe3em1(IMPC)Mbp HOM Early adult 0.00
anophthalmia Foxe3em1(IMPC)Mbp HOM Early adult 0.00
abnormal skin morphology Foxe3em1(IMPC)Mbp HOM Early adult 0.00
abnormal testis morphology Foxe3em1(IMPC)Mbp HOM Early adult 0.00
increased exploration in new environment Foxe3em1(IMPC)Mbp HOM   Early adult 8.49×10-05

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 Lateral Orientation

20 Images

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X-ray

XRay Images Whole Body Dorso Ventral

60 Images

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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
Ectopia Lentis 2, Isolated, Autosomal Recessive
Ectopia lentis OMIM:225100
Ectopia Lentis 1, Isolated, Autosomal Dominant
Ectopia lentis OMIM:129600
Cataract 4, Multiple Types
Developmental cataract OMIM:115700
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 35
Cataract OMIM:609376
Cataract 36
Cataract OMIM:613887
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 29
Cataract OMIM:115800
Hypertrophic Neuropathy And Cataract
Cataract OMIM:239900
Cataract 44
Developmental cataract OMIM:616509
Iris Pigment Epithelium Anomalies
Iris cyst OMIM:601616
Glaucoma-Ectopia Lentis-Microspherophakia-Stiff Joints-Short Stature Syndrome
Ectopia lentis ORPHA:2084
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Spondyloepiphyseal Dysplasia With Punctate Corneal Dystrophy
Punctate corneal dystrophy OMIM:183850
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
Pupillary Membrane, Persistence Of
Megalocornea, Developmental cataract, Persistent pupillary membrane OMIM:178900
Anterior Segment Dysgenesis 5
Hypoplasia of the fovea, Microphthalmia, Anterior synechiae of the anterior chamber, Hypoplasia o... 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
Ectopia pupillae, Abnormal iris vasculature, Hypoplastic iris stroma, Posterior embryotoxon, Axen... OMIM:601631
Anterior Segment Dysgenesis 8
Cataract, Ectopia pupillae, Ectopia lentis, Iridodonesis, Microphakia, Persistent pupillary membr... OMIM:617319
Autosomal Dominant Keratitis
Cataract, Hypoplasia of the fovea, Bilateral microphthalmos, Hypoplastic iris stroma, Limbal stem... ORPHA:2334
Microphthalmia, Isolated, With Cataract 1
Cataract, Microphthalmia OMIM:156850
Bilateral Acute Depigmentation Of The Iris
Hypoplastic iris stroma, Abnormal corneal endothelium morphology, Abnormal anterior chamber morph... ORPHA:69736
Cataract 24
Anterior polar cataract OMIM:601202
Cataract 5, Multiple Types
Zonular cataract, Pulverulent cataract, Lamellar cataract, Anterior polar cataract, Nuclear cataract OMIM:116800
Hydrocephaly-Cerebellar Agenesis Syndrome
Cataract ORPHA:1397
Anterior Segment Dysgenesis 7
Cataract, Iris coloboma, Microphthalmia, Buphthalmos, Anterior synechiae of the anterior chamber,... OMIM:269400
Cataract 19, Multiple Types
Cortical pulverulent cataract OMIM:615277
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome
Cataract ORPHA:73245
Cataract 39, Multiple Types
Developmental cataract, Anterior polar cataract, Lamellar cataract OMIM:615188
Peters Anomaly
Subcapsular cataract, Thinning of Descemet membrane, Anterior synechiae of the anterior chamber, ... ORPHA:708
Microcornea, Glaucoma, And Absent Frontal Sinuses
Microcornea OMIM:156700
Anterior Segment Dysgenesis 4
Hypoplastic iris stroma, Iris hypopigmentation OMIM:137600
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal opacity, Corneal dystrophy OMIM:609140
Dermochondrocorneal Dystrophy
Corneal dystrophy ORPHA:79149
Cataract 8, Multiple Types
Developmental cataract, Nuclear cataract OMIM:115665
Cataract 20, Multiple Types
Membranous cataract, Cortical cataract, Sutural cataract, Lamellar cataract OMIM:116100
Corneal Dystrophy-Perceptive Deafness Syndrome
Corneal opacity, Corneal dystrophy ORPHA:1490
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Cataract-Microcornea Syndrome
Cataract, Iris coloboma, Corneal dystrophy, Corneal opacity, Microcornea ORPHA:1377
Cataract 22, Multiple Types
Developmental cataract, Nuclear cataract OMIM:609741
Coats Disease
Cataract, Abnormal anterior chamber morphology, Aplasia/Hypoplasia of the iris ORPHA:190
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Cataract, Corneal opacity, Persistent pupillary membrane, Aplasia/Hypoplasia of the iris ORPHA:1067
Cataract 32, Multiple Types
Anterior polar cataract OMIM:115650
Microphthalmia, Isolated, With Coloboma 4
Microcornea, Microphthalmia, Coloboma OMIM:251505
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Cataract, Aniridia, Microcornea OMIM:106230
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cataract, Chorioretinal coloboma OMIM:274205
Galactosialidosis
Corneal opacity ORPHA:351
Corneal Dystrophy, Endothelial, X-Linked
Band keratopathy, Corneal opacity, Corneal dystrophy OMIM:300779
Cataract 7
Developmental cataract OMIM:115660
Cataract 10, Multiple Types
Zonular cataract, Nuclear cataract, Posterior Y-sutural cataract, Developmental cataract OMIM:600881
Aldh18A1-Related De Barsy Syndrome
Cataract ORPHA:35664
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Cataract OMIM:300719
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microcornea, Corneal opacity, Microphthalmia ORPHA:2432
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome
Corneal opacity, Corneal dystrophy ORPHA:3177
Cataract 12, Multiple Types
Developmental cataract, Progressive cataract OMIM:611597
Hyperferritinemia With Or Without Cataract
Nuclear cataract, Pulverulent cataract OMIM:600886
Edict Syndrome
Astigmatism, Anterior polar cataract, Hypoplasia of the iris, Keratoconus, Microcornea OMIM:614303
Nathalie Syndrome
Cataract, Arrhythmia ORPHA:2663
Cataract 9, Multiple Types
Cataract, Iris coloboma, Microphthalmia, Developmental cataract, Progressive cataract, Microcornea OMIM:604219
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Cataract, Hypertrophic cardiomyopathy ORPHA:79281
Cataract 15, Multiple Types
Nuclear cataract, Cortical cataract, Lamellar cataract OMIM:615274
Cataract 33, Multiple Types
Nuclear cataract, Cortical cataract, Lamellar cataract OMIM:611391
Cataract-Ataxia-Deafness-Retardation Syndrome
Developmental cataract OMIM:212710
Foveal Hypoplasia 1
Presenile cataracts, Hypoplasia of the fovea OMIM:136520
X-Linked Retinoschisis
Cataract ORPHA:792
Dermoids Of Cornea
Corneal opacity OMIM:304730
Anterior Segment Dysgenesis 6
Posterior synechiae of the anterior chamber, Corneal opacity, Developmental glaucoma, Abnormal De... OMIM:617315
Trichomegaly
Cataract OMIM:190330
Foveal Hypoplasia-Presenile Cataract Syndrome
Cataract ORPHA:2253
Cataract 42
Cataract, Developmental cataract OMIM:115900
Cataract 50 With Or Without Glaucoma
Cataract, Persistent pupillary membrane OMIM:620253
Glaucoma 3, Primary Congenital, D
Primary congenital glaucoma, Ectopia lentis, Corneal opacity OMIM:613086
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy
Juvenile cataract, Arrhythmia, Sudden cardiac death OMIM:212500
Cataract 1, Multiple Types
Nuclear cataract, Pulverulent cataract, Microcornea, Posterior subcapsular cataract OMIM:116200
Corneal Dystrophy, Groenouw Type I
Cataract, Granular corneal dystrophy, Punctate corneal dystrophy, Nodular corneal dystrophy OMIM:121900
Spastic Paraparesis And Deafness
Cataract, Tremor OMIM:312910
Cortical Dysplasia, Complex, With Other Brain Malformations 4
Cataract OMIM:615412
Microphthalmia, Isolated, With Coloboma 3
Cataract, Iris coloboma, Microphthalmia OMIM:610092
Mucous Membrane Pemphigoid
Corneal opacity ORPHA:46486
Microphthalmia, Isolated, With Coloboma 10
Iris coloboma, Microphthalmia, Microcoria, Chorioretinal coloboma, Anophthalmia OMIM:616428
Anterior Segment Dysgenesis 2
Cataract, Congenital aphakia, Anterior segment of eye aplasia, Microphthalmia, Posterior synechia... OMIM:610256
Cataract 30, Multiple Types
Posterior polar cataract, Pulverulent cataract, Diffuse nuclear cataract OMIM:116300
Vernal Keratoconjunctivitis
Abnormal conjunctiva morphology, Corneal neovascularization, Abnormal cornea morphology, Punctate... ORPHA:70476
Corneal Dystrophy, Posterior Polymorphous, 1
Ectopia pupillae, Abnormal Descemet membrane morphology, Abnormal corneal endothelium morphology,... OMIM:122000
Corneal Dystrophy, Avellino Type
Lattice corneal dystrophy OMIM:607541
Microcoria, Congenital
Hypoplasia of the iris dilator muscle, Microcoria OMIM:156600
Iridocorneal Endothelial Syndrome
Ectopia pupillae, Abnormal migration of corneal endothelium, Central heterochromia, Hypoplastic i... ORPHA:64734
Cataract 17, Multiple Types
Developmental cataract, Nuclear cataract, Pulverulent cataract, Microcornea OMIM:611544
Cataract 11, Multiple Types
Cataract, Developmental cataract, Microphthalmia OMIM:610623
Glaucoma, Primary Closed-Angle
Anterior synechiae of the anterior chamber OMIM:618880
Cornea Plana 1, Autosomal Dominant
Flat cornea OMIM:121400
Galactosemia Iv
Cataract OMIM:618881
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Cataract, Aplasia/Hypoplasia of the lens ORPHA:1381
Posterior Polymorphous Corneal Dystrophy
Ectopia pupillae, Astigmatism, Anterior synechiae of the anterior chamber, Corneal stromal edema,... ORPHA:98973
Isolated Aniridia
Cataract, Aniridia, Aplasia/Hypoplasia of the macula, Peters anomaly ORPHA:250923
Congenital Primary Aphakia
Congenital aphakia, Sclerocornea, Aplasia/Hypoplasia affecting the anterior segment of the eye, M... ORPHA:83461
Spinocerebellar Degeneration With Macular Corneal Dystrophy, Congenital Cataracts, And Myopia
Developmental cataract, Corneal dystrophy OMIM:271320
Limbal Stem Cell Deficiency
Corneal perforation, Blepharospasm, Opacification of the corneal epithelium, Corneal scarring, Co... ORPHA:171673
Spinocerebellar Ataxia, Autosomal Recessive 24
Cataract OMIM:617133
Aniridia 2
Cataract, Lens subluxation, Aniridia, Iris coloboma OMIM:617141
Morquio Syndrome C
Corneal opacity OMIM:252300
Xeroderma Pigmentosum, Complementation Group G
Cataract, Microphthalmia, Tremor OMIM:278780
Cataract 3, Multiple Types
Cerulean cataract, Sutural cataract, Developmental cataract, Nuclear pulverulent cataract OMIM:601547
Dysequilibrium Syndrome
Cataract ORPHA:1766
Optic Atrophy 3, Autosomal Dominant
Cataract, Tremor OMIM:165300
Obsolete: Isolated Optic Nerve Hypoplasia/Aplasia
Optic disc hypoplasia, Optic nerve hypoplasia, Unilateral microphthalmos, Chorioretinal coloboma,... ORPHA:137902
Aniridia-Intellectual Disability Syndrome
Cataract, Ectopia lentis, Aniridia, Optic nerve hypoplasia ORPHA:1068
Cataract 2, Multiple Types
Nuclear pulverulent cataract, Aculeiform cataract, Developmental cataract, Nuclear cataract, Micr... OMIM:604307
Cataract 21, Multiple Types
Cerulean cataract, Cortical pulverulent cataract, Iris coloboma, Corneal opacity, Macular hypopla... OMIM:610202
Corneal Dystrophy, Lattice Type I
Recurrent corneal erosions, Lattice corneal dystrophy OMIM:122200
Cataract, Age-Related Nuclear
Nuclear cataract OMIM:601371
Cataract 41
Nuclear cataract OMIM:116400
Cataract 18
Nuclear cataract OMIM:610019
Corneal Dystrophy, Epithelial Basement Membrane
Recurrent corneal erosions, Map-dot-fingerprint corneal dystrophy, Corneal dystrophy OMIM:121820
Uncombable Hair Syndrome 2
Juvenile cataract OMIM:617251
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Cataract OMIM:619813
Cataract 6, Multiple Types
Developmental cataract, Posterior polar cataract OMIM:116600
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features
Iris cyst, Hypoplasia of the fovea OMIM:620086
Blindness-Scoliosis-Arachnodactyly Syndrome
Cataract, Lens subluxation, Microphakia ORPHA:171844
Aniridia 3
Cataract, Aniridia OMIM:617142
Deafness, Cataract, Impaired Intellectual Development, And Polyneuropathy
Developmental cataract OMIM:619354
Winchester Syndrome
Corneal opacity OMIM:277950
Anterior Segment Dysgenesis 1
Opacification of the corneal stroma, Posterior polar cataract, Microcornea, Peters anomaly, Ocula... OMIM:107250
Galactosemia Ii
Cataract OMIM:230200
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Cataract, Iris coloboma, Microphthalmia, Chorioretinal coloboma, Corneal opacity, Posterior embry... ORPHA:1473
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Cataract, Chorioretinal coloboma, Iris coloboma, Microphthalmia OMIM:120433
Central Cloudy Dystrophy Of Francois
Central corneal dystrophy, Corneal dystrophy OMIM:217600
Schnyder Corneal Dystrophy
Crystalline corneal dystrophy, Corneal dystrophy OMIM:121800
Cataract 49
Posterior cortical cataract OMIM:619593
Chorea, Remitting, With Nystagmus And Cataract
Cataract OMIM:601372
Bilateral Striopallidodentate Calcinosis
Corneal opacity ORPHA:1980
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Cataract, Developmental cataract OMIM:613076
Microphthalmia, Isolated, With Coloboma 7
Inferior chorioretinal coloboma, Iris coloboma, Microphthalmia OMIM:614497
Hypoalphalipoproteinemia, Primary, 2
Cataract, Corneal arcus OMIM:618463
Microcephaly-Microcornea Syndrome, Seemanova Type
Cataract, Microcornea, Microphthalmia ORPHA:2528
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Hypoplasia of the iris, Anterior synechiae of the anterior chamber, Band keratopathy, Ocular ante... OMIM:614195
Congenital Varicella Syndrome
Cataract, Microphthalmia ORPHA:291
Spastic Paraparesis-Deafness Syndrome
Cataract ORPHA:2815
Foveal Hypoplasia 2
Hypoplasia of the fovea, Astigmatism, Microphthalmia, Posterior embryotoxon, Axenfeld anomaly OMIM:609218
Aniridia 1
Cataract, Ectopia pupillae, Hypoplasia of the fovea, Ectopia lentis, Chorioretinal hypopigmentati... OMIM:106210
Nathalie Syndrome
Cataract, Abnormal EKG OMIM:255990
Peroxisome Biogenesis Disorder 10A (Zellweger)
Cataract OMIM:614882
Dermochondrocorneal Dystrophy
Subepithelial corneal opacities, Anterior cortical cataract, Corneal dystrophy OMIM:221800
Aniridia And Absent Patella
Cataract, Aniridia OMIM:106220
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma
Ectopia lentis, Megalocornea, Iridodonesis, Microspherophakia, Buphthalmos, Deep anterior chamber OMIM:251750
Retinal Dystrophy And Iris Coloboma With Or Without Congenital Cataract
Developmental cataract, Posterior synechiae of the anterior chamber, Iris coloboma OMIM:616722
Exfoliation Syndrome
Cataract, Mydriasis, Phakodonesis, Abnormal lens morphology, Iris hypoperfusion, Anisocoria, Pigm... OMIM:177650
Stickler Syndrome Type 2
Cataract, Corneal opacity ORPHA:90654
Ring Dermoid Of Cornea
Abnormal corneal limbus morphology, Abnormal conjunctiva morphology, Corneal astigmatism, Abnorma... OMIM:180550
Corneal Dystrophy, Punctiform And Polychromatic Pre-Descemet
Posterior corneal stroma punctiform multicolored opacities OMIM:619871
Autosomal Recessive Spastic Paraplegia Type 69
Cataract, Hand tremor ORPHA:401830
Cataract 16, Multiple Types
Developmental cataract, Posterior polar cataract, Lenticonus OMIM:613763
Microphthalmia, Isolated 2
Microphthalmia, Opacification of the corneal stroma OMIM:610093
Gms Syndrome
Tricuspid regurgitation, Rieger anomaly ORPHA:2090
Chromosome 11P13 Deletion Syndrome, Distal
Aniridia OMIM:616902
Norrie Disease
Cataract, Microphthalmia, Buphthalmos, Shallow anterior chamber, Hypoplasia of the iris, Corneal ... OMIM:310600
Microphthalmia, Syndromic 13
Microcornea, Chorioretinal coloboma, Iris coloboma, Microphthalmia OMIM:300915
Oculoauricular Syndrome
Cataract, Iris cyst, Iris coloboma, Microphthalmia, Microphakia, Retinal coloboma, Phthisis bulbi... OMIM:612109
Spinocerebellar Degeneration And Corneal Dystrophy
Corneal stromal edema, Opacification of the corneal stroma, Corneal dystrophy OMIM:271310
Weill-Marchesani Syndrome 3
Ectopia lentis, Pulmonic stenosis, Microspherophakia, Shallow anterior chamber, Aortic valve sten... OMIM:614819
Weill-Marchesani Syndrome 4
Phakodonesis, Ectopia lentis, Iridodonesis, Shallow anterior chamber, Posterior synechiae of the ... OMIM:613195
Macular Dystrophy, Corneal
Recurrent corneal erosions, Punctate opacification of the cornea, Corneal dystrophy OMIM:217800
Megalocornea
Cataract, Megalocornea, Astigmatism, Iridodonesis, Mosaic corneal dystrophy, Decreased corneal th... OMIM:309300
Cataract-Nephropathy-Encephalopathy Syndrome
Cataract ORPHA:1380
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Ocular anterior segment dysgenesis, Iris coloboma, Microphthalmia, Peters anomaly, Coloboma OMIM:610023
Bardet-Biedl Syndrome 18
Cataract OMIM:615995
WAGR 11p13 deletion syndrome
Aniridia DECIPHER:35
2Q24 Microdeletion Syndrome
Cataract, Microphthalmia, Abnormality iris morphology, Coloboma ORPHA:1617
X-Linked Endothelial Corneal Dystrophy
Nuclear cataract, Abnormal corneal endothelium morphology, Corneal opacity, Band keratopathy ORPHA:293621
Corneal Dystrophy And Perceptive Deafness
Opacification of the corneal stroma, Corneal dystrophy OMIM:217400
Xeroderma Pigmentosum, Complementation Group D
Cataract, Keratoconjunctivitis sicca, Conjunctivitis, Microphthalmia, Telangiectasia, Keratitis, ... OMIM:278730
Cataract 40
Nuclear cataract, Sutural cataract OMIM:302200
Iris Pigment Layer, Cleavage Of
Cataract OMIM:147610
Microphthalmia, Isolated 6
Microcornea, Microphthalmia OMIM:613517
Wagr Syndrome
Cataract, Aplasia/Hypoplasia of the iris ORPHA:893
Woolly Hair
Cataract, Abnormal pupil morphology ORPHA:170
Axenfeld-Rieger Syndrome, Type 3
Ectopia pupillae, Hypoplasia of the iris, Posterior embryotoxon, Posterior synechiae of the anter... OMIM:602482
Spastic Ataxia-Corneal Dystrophy Syndrome
Developmental cataract, Corneal dystrophy ORPHA:2572
Cataract-Hypertrichosis-Intellectual Disability Syndrome
Developmental cataract ORPHA:1375
Microcephaly, Cataracts, Impaired Intellectual Development, And Dystonia With Abnormal Striatum
Developmental cataract, Dystonia OMIM:618284
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Cataract OMIM:254000
Thiel-Behnke Corneal Dystrophy
Central corneal dystrophy, Subepithelial corneal opacities, Recurrent corneal erosions, Astigmati... ORPHA:98960
Glaucoma 1, Open Angle, A
Abnormal iris vasculature OMIM:137750
Retinitis Pigmentosa 86
Cortical cataract OMIM:618613
Microphthalmia, Isolated, With Coloboma 5
Bilateral microphthalmos, Iris coloboma, Microphthalmia, Chorioretinal coloboma, Anophthalmia OMIM:611638
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
Cataract ORPHA:2278
Keratitis, Hereditary
Keratitis, Opacification of the corneal stroma OMIM:148190
Spondylo-Ocular Syndrome
Aplasia/Hypoplasia of the lens, Cataract, Iris hypopigmentation, Microphthalmia ORPHA:85194
Charcot-Marie-Tooth Disease Type 1B
Abnormal pupil morphology ORPHA:101082
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Cataract OMIM:609115
Ectopia Lentis Et Pupillae
Cataract, Ectopia pupillae, Ectopia lentis, Persistent pupillary membrane, Iris transillumination... OMIM:225200
Familial Pterygium Of The Conjunctiva
Opacification of the corneal stroma ORPHA:2989
Corneal Dystrophy, Lattice Type Iiia
Corneal erosion, Lattice corneal dystrophy OMIM:608471
Corneal Dystrophy, Posterior Amorphous
Ectopia pupillae, Iris coloboma, Corneal dystrophy OMIM:612868
Aniridia, Partial, With Unilateral Renal Agenesis And Psychomotor Retardation
Aniridia, Developmental glaucoma OMIM:206750
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Microcornea, Anterior synechiae of the anterior chamber, Iris hypopigmentation, Iris coloboma ORPHA:3214
Nance-Horan Syndrome
Developmental cataract, Posterior Y-sutural cataract, Microcornea, Microphthalmia OMIM:302350
Isolated Ectopia Lentis
Cataract, Hypertension, Ectopia pupillae, Ectopia lentis ORPHA:1885
Atopic Keratoconjunctivitis
Chemosis, Keratoconjunctivitis sicca, Corneal opacity, Keratitis, Corneal neovascularization ORPHA:163934
Waardenburg Syndrome, Type 2A
Hypoplastic iris stroma, Heterochromia iridis OMIM:193510
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Iris coloboma, Microphthalmia, Chorioretinal coloboma, Posterior lenticonus, Remnants of the hyal... ORPHA:231736
Aniridia-Cerebellar Ataxia-Intellectual Disability Syndrome
Aniridia ORPHA:1065
Gillespie Syndrome
Hypoplasia of the iris, Aniridia OMIM:206700
Corneal Dystrophy, Fuchs Endothelial, 3
Corneal guttata, Corneal stromal edema, Corneal opacity OMIM:613267
Leber Congenital Amaurosis 7
Cataract, Keratoconus OMIM:613829
Cornea Plana 2, Autosomal Recessive
Decreased corneal thickness, Microphthalmia, Corneal arcus, Sclerocornea, Corneal opacity, Flat c... OMIM:217300
Optic Atrophy 10 With Or Without Ataxia, Impaired Intellectual Development, And Seizures
Cerulean cataract OMIM:616732
Intellectual Developmental Disorder With Poor Growth And With Or Without Seizures Or Ataxia
Developmental cataract OMIM:618808
Cataract-Deafness-Hypogonadism Syndrome
Developmental cataract ORPHA:1383
Corneal Dystrophy, Posterior Polymorphous, 3
Ectopia pupillae, Corneal guttata, Keratoconus, Corneal dystrophy OMIM:609141
Myopathy, Tubular Aggregate, 1
Abnormal pupil morphology OMIM:160565
Lattice Corneal Dystrophy Type I
Subepithelial corneal opacities, Central posterior corneal opacity, Recurrent corneal erosions, C... ORPHA:98964
Congenital Microcoria
Iris hypopigmentation, Megalocornea, Astigmatism, Hypoplastic iris stroma, Corneal stromal edema,... ORPHA:566
Aniridia-Absent Patella Syndrome
Cataract, Aniridia ORPHA:1069
Gómez-López-Hernández Syndrome
Corneal opacity ORPHA:1532
Kahrizi Syndrome
Cataract, Iris coloboma OMIM:612713
Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type
Cataract OMIM:300261
X-Linked Intellectual Disability, Stocco Dos Santos Type
Cataract ORPHA:85288
Exudative Vitreoretinopathy 6
Cataract, Cortical cataract, Nuclear cataract OMIM:616468
Cataract 47
Cataract, Microcornea OMIM:612018
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Developmental cataract, Coloboma, Microphthalmia, Ocular anterior segment dysgenesis ORPHA:324416
Loose Anagen Syndrome
Iris coloboma ORPHA:168
Corneal Dystrophy, Gelatinous Drop-Like
Corneal dystrophy OMIM:204870
Immunodeficiency 10
Hypoplasia of the iris OMIM:612783
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Bradycardia, Corneal opacity, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Developmental ... OMIM:618815
Retinitis Pigmentosa 40
Cataract OMIM:613801
Developmental And Epileptic Encephalopathy 35
Cataract, Limb tremor, Cardiomyopathy OMIM:616647
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Cataract, Iris coloboma, Uveitis, Microphthalmia, Buphthalmos, Persistent pupillary membrane, Sha... OMIM:221900
Leg, Absence Deformity Of, With Congenital Cataract
Developmental cataract, Progressive cataract OMIM:246000
X-Linked Recessive Ocular Albinism
Hypoplasia of the fovea, Iris hypopigmentation, Astigmatism, Abnormal pupil morphology, Ocular al... ORPHA:54
Corneal Dystrophy, Reis-Bucklers Type
Corneal erosion, Opacification of the corneal stroma, Corneal opacity, Corneal dystrophy OMIM:608470
Yemenite Deaf-Blind Hypopigmentation Syndrome
Microcornea, Chorioretinal coloboma, Iris coloboma OMIM:601706
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome
Cataract, Corneal dystrophy, Hypertrophic cardiomyopathy ORPHA:1369
Hypomyelination-Congenital Cataract Syndrome
Developmental cataract ORPHA:85163
Cataract 31, Multiple Types
Nuclear cataract, Anterior subcapsular cataract, Posterior subcapsular cataract OMIM:605387
Corneal Dystrophy, Fleck
Speckled corneal dystrophy OMIM:121850
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Cataract, Microcornea OMIM:619082
Hec Syndrome
Developmental cataract, Arrhythmia, Abnormal pupil morphology, Cardiomyopathy ORPHA:2119
D-Lactic Aciduria With Gout
Aniridia OMIM:245450
Peroxisome Biogenesis Disorder 8A (Zellweger)
Cataract OMIM:614876
Hyperlysinemia, Type I
Ectopia lentis OMIM:238700
Keratoendotheliitis Fugax Hereditaria
Conjunctival hyperemia, Keratitis, Opacification of the corneal stroma OMIM:148200
Distal Deletion 6P
Ectopia pupillae, Abnormal anterior chamber morphology, Hypoplasia of the iris, Anterior synechia... ORPHA:96125
Absence Deformity Of Leg-Cataract Syndrome
Cataract ORPHA:2310
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Cataract OMIM:618660
Palmoplantar Carcinoma, Multiple Self-Healing
Limbal stem cell deficiency, Corneal neovascularization OMIM:615225
Microphthalmia, Syndromic 16
Anophthalmia, Sclerocornea, Microphthalmia OMIM:611038
Uveal Melanoma
Zonular cataract, Mydriasis, Ciliary body melanoma, Iris melanoma, Vitreous hemorrhage, Inferior ... ORPHA:39044
Upper Limb Defect-Eye And Ear Abnormalities Syndrome
Cataract, Chorioretinal coloboma ORPHA:2489
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Cataract, Retinal coloboma, Microphthalmia ORPHA:363741
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Corneal opacity ORPHA:2370
Spastic Paraplegia 64, Autosomal Recessive
Developmental cataract OMIM:615683
Leber Congenital Amaurosis 6
Cataract, Keratoconus OMIM:613826
N Syndrome
Megalocornea ORPHA:2608
Microphthalmia, Isolated 5
Cataract, Microphthalmia OMIM:611040
Short Syndrome
Megalocornea, Abnormal pupil morphology, Abnormal anterior chamber morphology, Hypoplasia of the ... ORPHA:3163
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Cataract, Microcornea, Microphthalmia OMIM:616171
Microphthalmia, Isolated, With Corectopia
Ectopia pupillae, Microphthalmia OMIM:156900
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Cataract, Retinal coloboma, Microphthalmia OMIM:601794
Corneal Dystrophy, Meesmann, 1
Punctate opacification of the cornea, Corneal dystrophy OMIM:122100
Blue Cone Monochromatism
Corneal dystrophy ORPHA:16
Mucolipidosis Iv
Dystonia, Corneal opacity, Opacification of the corneal stroma OMIM:252650
Cahmr Syndrome
Lamellar cataract OMIM:211770
Congenital Rubella Syndrome
Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Microphthalmia ORPHA:290
Non Rare In Europe: Idiopathic Anterior Uveitis
Nuclear cataract, Posterior synechiae of the anterior chamber, Posterior subcapsular cataract ORPHA:280914
Otodental Syndrome
Cataract, Lens coloboma, Iris coloboma, Microphthalmia, Retinal coloboma, Microcornea ORPHA:2791
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Abnormally prominent line of Schwalbe, Rieger anomaly OMIM:109120
Mucolipidosis Type Iii
Corneal opacity ORPHA:577
Deafness, Autosomal Recessive 108
Iris coloboma OMIM:617654
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Cataract, Chorioretinal dysplasia, Microphthalmia OMIM:251270
Pellagra-Like Syndrome
Cataract OMIM:260650
Persistent Hyperplastic Primary Vitreous
Cataract, Hyaloid vascular remnant and retrolental mass, Microphthalmia, Buphthalmos, Persistent ... ORPHA:91495
Axenfeld-Rieger Syndrome
Aplasia/Hypoplasia of the iris, Posterior embryotoxon, Abnormal anterior chamber morphology ORPHA:782
Myopia 17, Autosomal Dominant
Presenile cataracts OMIM:608367
Proximal Myotonic Myopathy
Cataract ORPHA:606
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Cataract, Iris coloboma, Corneal scarring, Microphthalmia, Buphthalmos, Chorioretinal coloboma OMIM:212550
Thanatophoric Dysplasia, Glasgow Variant
Cataract OMIM:273680
Wagner Vitreoretinopathy
Cataract, Chorioretinal atrophy OMIM:143200
Cataract 48
Cataract OMIM:618415
Microphthalmia With Brain And Digit Anomalies
Cataract, Iris coloboma, Microphthalmia, Sclerocornea, Chorioretinal coloboma, Anophthalmia, Micr... ORPHA:139471
Congenital Hereditary Endothelial Dystrophy Type Ii
Irregular astigmatism, Corneal stromal edema, Increased corneal thickness, Corneal opacity, Abnor... ORPHA:293603
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Cataract OMIM:610156
Cardiomyopathy, Dilated, 1Ii
Cataract, Ventricular tachycardia, Mitral regurgitation, Moderately reduced left ventricular ejec... OMIM:615184
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts
Cataract OMIM:183800
Corneal Dystrophy, Congenital Stromal
Corneal erosion, Increased corneal thickness, Band-shaped corneal dystrophy, Corneal dystrophy OMIM:610048
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs
Cataract, Phakodonesis, Ectopia lentis, Microphthalmia, Spontaneous conjunctival filtering bleb, ... OMIM:601552
Biemond Syndrome Ii
Iris coloboma OMIM:210350
Alexander Disease
Microcoria OMIM:203450
Axenfeld-Rieger Syndrome, Type 1
Ectopia pupillae, Abnormally prominent line of Schwalbe, Megalocornea, Rieger anomaly, Hypoplasia... OMIM:180500
Corneal Dystrophy, Fuchs Endothelial, 1
Descemet Membrane Folds, Corneal guttata, Corneal dystrophy, Corneal stromal edema, Corneal degen... OMIM:136800
Autoinflammation With Arthritis And Dyskeratosis
Uveitis, Keratoconjunctivitis sicca, Corneal neovascularization, Punctate keratitis OMIM:617388
Cataract 23, Multiple Types
Lamellar cataract OMIM:610425
Scheie Syndrome
Aortic valve stenosis, Corneal opacity, Aortic regurgitation OMIM:607016
Glaucoma 3, Primary Congenital, E
Megalocornea, Corneal stromal edema OMIM:617272
Bartsocas-Papas Syndrome 2
Microphthalmia, Axillary pterygium, Popliteal pterygium, Corneal opacity, Antecubital pterygium OMIM:619339
Megalocornea-Intellectual Disability Syndrome
Megalocornea, Astigmatism, Iridodonesis, Abnormal anterior chamber morphology, Hypoplasia of the ... ORPHA:2479
Amoebic Keratitis
Cataract, Corneal perforation, Corneal ulceration, Abnormal corneal epithelium morphology, Puncta... ORPHA:67043
X-Linked Intellectual Disability-Retinitis Pigmentosa Syndrome
Iris hypopigmentation ORPHA:85332
Mucoepithelial Dysplasia, Hereditary
Cataract, Keratoconjunctivitis, Melena, Opacification of the corneal stroma, Corneal neovasculari... OMIM:158310
Retinitis Pigmentosa 9
Cataract OMIM:180104
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Cataract, Intention tremor, Microcornea, Microphthalmia ORPHA:48431
Woolly Hair Nevus
Persistent pupillary membrane, Heterochromia iridis ORPHA:79414
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Cataract ORPHA:1875
Cataract-Aberrant Oral Frenula-Growth Delay Syndrome
Cataract ORPHA:1373
Galactose Epimerase Deficiency
Cataract ORPHA:79238
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Cataract, Ectopia pupillae, Microphthalmia, Sclerocornea, Anophthalmia, Microcornea, Coloboma OMIM:615877
Fish-Eye Disease
Opacification of the corneal stroma OMIM:136120
Coloboma, Ocular, Autosomal Dominant
Optic nerve aplasia, Microphthalmia, Chorioretinal coloboma, Corneal opacity, Optic disc coloboma... OMIM:120200
Unilateral Ocular Duplication
Microcornea, Abnormal pupil morphology, Iris coloboma ORPHA:3374
Blepharoptosis, Myopia, And Ectopia Lentis
Ectopia lentis, Increased axial length of the globe OMIM:110150
Cochleosaccular Degeneration-Cataract Syndrome
Cataract ORPHA:3233
Erythrokeratodermia Variabilis
Cataract, Corneal opacity ORPHA:317
X-Linked Immunoneurologic Disorder
Cataract ORPHA:2571
Fuchs Endothelial Corneal Dystrophy
Abnormal Descemet membrane morphology, Abnormal corneal endothelium morphology, Corneal opacity, ... ORPHA:98974
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of
Cardiomyopathy, Sutural cataract OMIM:201470
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Arrhythmia, Abnormal pupil morphology, Prolonged QT interval ORPHA:2151
Nail-Patella Syndrome
Cataract, Lester's sign, Microphakia, Keratoconus, Microcornea, Antecubital pterygium OMIM:161200
Isolated Split Hand-Split Foot Malformation
Aniridia ORPHA:2440
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Anophthalmia, Microphthalmia ORPHA:85275
Xp22.3 Microdeletion Syndrome
Aplasia/Hypoplasia affecting the eye, Opacification of the corneal stroma ORPHA:1643
Peroxisome Biogenesis Disorder 2B
Polar cataract OMIM:202370
Oculopalatocerebral Syndrome
Remnants of the hyaloid vascular system, Microphthalmia, Leukocoria OMIM:257910
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14
Cataract, Cardiomyopathy OMIM:615352
Cat-Eye Syndrome
Chorioretinal coloboma, Iris coloboma, Microphthalmia ORPHA:195
Cofs Syndrome
Cataract, Microphthalmia ORPHA:1466
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Cataract, Corneal opacity, Microphthalmia, Coloboma OMIM:613153
Peroxisome Biogenesis Disorder 11B
Cataract OMIM:614885
Leber Congenital Amaurosis 16
Cataract OMIM:614186
Nance-Horan Syndrome
Cataract, Microcornea, Microphthalmia ORPHA:627
Severe Neurodevelopmental Disorder With Feeding Difficulties-Stereotypic Hand Movement-Bilateral Cataract
Juvenile cataract ORPHA:500545
Intermediate Uveitis
Cataract, Vasculitis, Band keratopathy, Posterior synechiae of the anterior chamber, Anterior uve... ORPHA:279914
Intellectual Developmental Disorder, Autosomal Recessive 50
Heterochromia iridis OMIM:616460
Chromosome 16Q12 Duplication Syndrome
Cataract, Anisocoria OMIM:619649
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Cataract OMIM:608227
Morm Syndrome
Cataract ORPHA:75858
Corneal Dystrophy, Fuchs Endothelial, 2
Corneal guttata, Corneal dystrophy, Corneal degeneration OMIM:610158
Idiopathic Panuveitis
Cataract, Choroidal neovascularization, Conjunctival hyperemia, Posterior synechiae of the anteri... ORPHA:280921
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Cataract, Microphthalmia OMIM:613730
Microphthalmia, Isolated, With Coloboma 9
Iris coloboma, Microphthalmia, Macular coloboma, Sclerocornea, Microcornea, Ocular anterior segme... OMIM:615145
Microphthalmia, Syndromic 8
Microcornea, Microphthalmia OMIM:601349
Corneal Dystrophy, Posterior Polymorphous, 4
Ectopia pupillae OMIM:618031
Pierson Syndrome
Cataract, Retinal hemorrhage, Hypoplasia of the ciliary body, Hypertension, Microcoria, Microphth... OMIM:609049
3-Methylglutaconic Aciduria Type 4
Cataract, Cardiomyopathy, Iris hypopigmentation ORPHA:67048
Intestinal Dysmotility Syndrome
Cataract OMIM:620045
Megalocornea-Mental Retardation Syndrome
Megalocornea, Hypoplasia of the iris, Iridodonesis OMIM:249310
Hurler-Scheie Syndrome
Cardiomyopathy, Corneal opacity ORPHA:93476
Hypogonadism-Cataract Syndrome
Cataract OMIM:240950
Corneal Dystrophy, Fuchs Endothelial, 4
Corneal guttata, Corneal dystrophy OMIM:613268
Peroxisomal Fatty Acyl-Coa Reductase 1 Disorder
Cataract OMIM:616154
Sveinsson Chorioretinal Atrophy
Astigmatism, Peripapillary chorioretinal atrophy OMIM:108985
Epithelial Recurrent Erosion Dystrophy
Corneal erosion OMIM:122400
Harel-Yoon Syndrome
Developmental cataract, Corneal opacity, Dystonia, Hypertrophic cardiomyopathy OMIM:617183
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Cataract, Congenital, With Mental Impairment And Dentate Gyrus Atrophy
Developmental cataract OMIM:607674
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Aniridia, Corneal opacity, Developmental glaucoma ORPHA:1064
Usher Syndrome Type 3
Cataract, Astigmatism, Iris hypopigmentation ORPHA:231183
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Cataract OMIM:618392
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Cataract, Chorioretinal dysplasia, Astigmatism, Microphthalmia, Chorioretinal lacunae, Corneal op... OMIM:152950
Ichthyosis, X-Linked
Opacification of the corneal stroma OMIM:308100
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Ectopia pupillae, Retinal hemorrhage, Limb dystonia, Cerebral hemorrhage, Astigmatism, Ischemic s... OMIM:175780
Chondrodysplasia-Difference Of Sex Development Syndrome
Hypoplasia of the iris, Chorioretinal coloboma ORPHA:1422
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Cataract, Arrhythmia, Hypertension, Pulmonary embolism, Congestive heart failure, Hypertrophic ca... ORPHA:1345
Leber Congenital Amaurosis 8
Cataract, Macular coloboma, Keratoconus, Choriocapillaris atrophy, Chorioretinal atrophy OMIM:613835
Phacoanaphylactic Uveitis
Retinal arteritis, Panuveitis, Anterior chamber flare grade 1+, Abnormal pupil morphology, Poster... ORPHA:209959
Myopia 28, Autosomal Recessive
Cataract OMIM:619781
Dilution, Pigmentary
Iris hypopigmentation OMIM:126070
Fish-Eye Disease
Angina pectoris, Corneal opacity ORPHA:79292
1Q21.1 Microduplication Syndrome
Cataract ORPHA:250994
Adult-Onset Multiple Mitochondrial Dna Deletion Syndrome Due To Dguok Deficiency
Cataract ORPHA:329314
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Developmental cataract, Cardiomyopathy, Abnormal left ventricular function, Microphthalmia OMIM:613155
Combined Oxidative Phosphorylation Deficiency 13
Cataract, Choreoathetosis, Dystonia OMIM:614932
Nephroblastoma
Hypertension, Aniridia ORPHA:654
Retinitis Pigmentosa 84
Cataract, Macular coloboma OMIM:618220
Cataract-Ataxia-Deafness Syndrome
Developmental cataract, Tremor ORPHA:1368
Galactose Mutarotase Deficiency
Cataract ORPHA:570422
Developmental Delay With Variable Neurologic And Brain Abnormalities
Cataract, Astigmatism, Microphthalmia OMIM:619694
Sialidosis Type 2
Tremor, Corneal opacity ORPHA:87876
Rutherfurd Syndrome
Opacification of the corneal stroma, Corneal dystrophy OMIM:180900
Encephalocraniocutaneous Lipomatosis
Limbal dermoid, Hypoplasia of the iris, Sclerocornea, Microphthalmia OMIM:613001
Triokinase And Fmn Cyclase Deficiency Syndrome
Cataract, Microphthalmia, Reduced systolic function, Dilated cardiomyopathy OMIM:618805
Nivelon-Nivelon-Mabille Syndrome
Optic disc coloboma, Hypoplasia of the iris OMIM:600092
Corneal Dystrophy, Fuchs Endothelial, 8
Corneal guttata, Corneal dystrophy OMIM:615523
Microcephaly-Brachydactyly-Kyphoscoliosis Syndrome
Cataract ORPHA:3433
Myopia, High, With Cataract And Vitreoretinal Degeneration
Cataract, Lens subluxation OMIM:614292
Leber Congenital Amaurosis 2
Cataract, Keratoconus OMIM:204100
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Cataract, Microphthalmia, Iris transillumination defect, Microcornea, Coloboma OMIM:617306
Achromatopsia 3
Cataract OMIM:262300
Microphthalmia, Isolated 1
Anophthalmia, Microphthalmia OMIM:251600
Lissencephaly 8
Cataract, Microphthalmia OMIM:617255
Vitreoretinochoroidopathy
Abnormality of chorioretinal pigmentation, Pulverulent cataract, Microphthalmia, Vitreous hemorrh... OMIM:193220
Rodrigues Blindness
Sclerocornea, Microcornea, Microphthalmia OMIM:268320
Neurofibromatosis, Type Ii
Cortical cataract, Juvenile posterior subcapsular lenticular opacities OMIM:101000
Corneal Dystrophy, Fuchs Endothelial, 6
Corneal guttata, Corneal dystrophy, Corneal stromal edema, Abnormal Descemet membrane morphology,... OMIM:613270
Developmental And Epileptic Encephalopathy 73
Cataract OMIM:618379
Ophthalmoplegia, Familial Static
Anisocoria OMIM:165000
Stickler Syndrome, Type V
Cataract OMIM:614284
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Corneal arcus OMIM:620058
Insulinomatosis And Diabetes Mellitus
Developmental cataract, Developmental glaucoma OMIM:147630
Hereditary Bullous Dystrophy, Macular Type
Cataract, Heart murmur, Corneal opacity ORPHA:1867
Martsolf Syndrome 2
Cataract, Developmental cataract OMIM:619420
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Cataract, Microphthalmia, Optic nerve hypoplasia OMIM:615181
Epithelial Recurrent Erosion Dystrophy
Subepithelial corneal opacities, Recurrent corneal erosions, Corneal scarring, Keratoconjunctivit... ORPHA:293381
Oculocutaneous Albinism Type 6
Abnormal iris pigmentation, Aplasia/Hypoplasia of the macula ORPHA:370097
Ophthalmomandibulomelic Dysplasia
Megalocornea, Corneal opacity ORPHA:2741
Albinism, Oculocutaneous, Type Iv
Blue irides, Macular hypoplasia OMIM:606574
Granular Corneal Dystrophy Type Ii
Subepithelial corneal opacities, Granular corneal dystrophy, Recurrent corneal erosions, Corneal ... ORPHA:98963
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability
Cataract OMIM:617404
Cerebrooculofacioskeletal Syndrome 2
Cataract, Developmental cataract, Microphthalmia OMIM:610756
Retinitis Pigmentosa 4
Cataract OMIM:613731
Aortic Aneurysm, Familial Thoracic 4
Stroke, Descending aortic dissection, Posterior cerebral artery stenosis, Thoracic aortic aneurys... OMIM:132900
Waardenburg Syndrome, Type 2B
Heterochromia iridis OMIM:600193
Autosomal Recessive Spastic Paraplegia Type 26
Cataract, Dystonia ORPHA:101006
Temtamy Syndrome
Chorioretinal coloboma, Iris coloboma, Microphthalmia ORPHA:1777
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type
Cataract ORPHA:85172
Griscelli Syndrome Type 3
Iris hypopigmentation ORPHA:79478
Myopathy, Distal, 7, Adult-Onset, X-Linked
Cataract, Cardiomyopathy OMIM:301075
Corneal Endothelial Dystrophy
Abnormal Descemet membrane morphology, Increased corneal thickness, Opacification of the corneal ... OMIM:217700
Granular Corneal Dystrophy Type I
Central corneal dystrophy, Subepithelial corneal opacities, Abnormal corneal epithelium morpholog... ORPHA:98962
Tietz Albinism-Deafness Syndrome
Blue irides, Heterochromia iridis OMIM:103500
Brachyolmia Type 1, Toledo Type
Opacification of the corneal stroma OMIM:271630
Familial Exudative Vitreoretinopathy
Cataract, Peripheral retinal avascularization, Vitreous floaters, Abnormal optic disc morphology,... ORPHA:891
Maternally-Inherited Diabetes And Deafness
Cataract, Arrhythmia, Hypertension, Congestive heart failure, Hypertrophic cardiomyopathy, Abnorm... ORPHA:225
Brittle Cornea Syndrome 2
Corneal perforation, Megalocornea, Keratoglobus, Decreased corneal thickness, Keratoconus, Sclero... OMIM:614170
Microphthalmia, Syndromic 5
Cataract, Optic nerve hypoplasia, Microphthalmia, Anophthalmia, Microcornea, Coloboma OMIM:610125
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Cataract OMIM:617393
Cone-Rod Dystrophy 16
Cataract OMIM:614500
Leber Congenital Amaurosis
Cataract, Keratoconus ORPHA:65
Multicentric Carpotarsal Osteolysis Syndrome
Hypertension, Corneal opacity OMIM:166300
Linear Verrucous Nevus Syndrome
Cataract, Abnormal cornea morphology, Iris coloboma, Aplasia/Hypoplasia of the fovea ORPHA:2611
Ectodermal Dysplasia-Blindness Syndrome
Cataract, Keratoconjunctivitis sicca, Corneal dystrophy, Microphthalmia, Sclerocornea, Microcornea ORPHA:1806
Oculomaxillofacial Dysostosis
Aplasia/Hypoplasia affecting the eye, Corneal opacity ORPHA:1794
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome
Microcornea, Iris coloboma OMIM:615147
Autosomal Recessive Spastic Paraplegia Type 25
Developmental cataract, Developmental glaucoma ORPHA:101005
Microphthalmia, Syndromic 12
Cryptorchidism, Anophthalmia, Microphthalmia, Bicornuate uterus OMIM:615524
Retinitis Pigmentosa 74
Posterior polar cataract OMIM:616562
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Cataract, Astigmatism, Ectopia pupillae, Microphthalmia OMIM:618727
Donnai-Barrow Syndrome
Cataract, Hypoplasia of the iris, Iris coloboma OMIM:222448
Pelvis-Shoulder Dysplasia
Optic disc coloboma, Microphthalmia, Iris coloboma, Opacification of the corneal stroma OMIM:169550
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 1
Cataract, Intention tremor OMIM:224050
Gm1-Gangliosidosis, Type Iii
Dystonia, Opacification of the corneal stroma OMIM:230650
Microcornea, Myopic Chorioretinal Atrophy, And Telecanthus
Microcornea, Posterior subcapsular cataract, Chorioretinal degeneration OMIM:615458
Mevalonic Aciduria
Cataract ORPHA:29
Alpha-Methylacyl-Coa Racemase Deficiency
Cataract, Intention tremor, Tremor OMIM:614307
Cat-Eye Syndrome (Type I)
Iris coloboma DECIPHER:42
Klippel-Feil Syndrome 3, Autosomal Dominant
Chorioretinal coloboma, Iris coloboma OMIM:613702
Waardenburg Syndrome, Type 2E
Blue irides, Iris hypopigmentation, Hypoplasia of the iris, Ocular albinism, Heterochromia iridis OMIM:611584
Usher Syndrome Type 1
Cataract, Iris hypopigmentation ORPHA:231169
Vitreoretinal Degeneration, Snowflake Type
Cataract, Corneal guttata OMIM:193230
Dermatitis, Atopic
Cataract, Keratoconus, Conjunctivitis OMIM:603165
Oculo-Palato-Cerebral Syndrome
Cataract, Remnants of the hyaloid vascular system, Microphthalmia, Leukocoria ORPHA:2714
Horner Syndrome, Congenital
Heterochromia iridis OMIM:143000
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Cataract OMIM:616108
Recessive X-Linked Ichthyosis
Opacification of the corneal stroma ORPHA:461
Warburg Micro Syndrome 1
Developmental cataract, Microcornea, Microphthalmia OMIM:600118
Alg2-Cdg
Cataract, Iris coloboma ORPHA:79326
Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome
Developmental cataract ORPHA:330054
Syndromic Recessive X-Linked Ichthyosis
Corneal opacity ORPHA:281090
Senior-Loken Syndrome
Cataract, Hypertension ORPHA:3156
Osteoporosis-Pseudoglioma Syndrome
Corneal opacity, Microphthalmia ORPHA:2788
Temtamy Syndrome
Ectopia lentis, Iris coloboma, Aortic aneurysm, Downslanted palpebral fissures, Lens luxation, Mi... OMIM:218340
Oculocutaneous Albinism, Type Viii
Hypoplasia of the fovea, Iris transillumination defect, Chorioretinal hypopigmentation OMIM:619165
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hypoplasia of the iris ORPHA:169090
Supernumerary Nostril
Developmental cataract, Microcornea ORPHA:141096
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Cataract, Corneal opacity, Optic nerve hypoplasia, Hypertrophic cardiomyopathy ORPHA:496790
Kleeblattschaedel
Recurrent corneal erosions OMIM:148800
Weill-Marchesani Syndrome
Cataract, Ectopia lentis, Mitral regurgitation, Pulmonic stenosis, Aortic valve stenosis ORPHA:3449
Leber Congenital Amaurosis 1
Cataract, Keratoconus OMIM:204000
Macrophthalmia, Colobomatous, With Microcornea
Iris coloboma, Increased axial length of the globe, Shallow anterior chamber, Chorioretinal colob... OMIM:602499
Blepharoptosis-Myopia-Ectopia Lentis Syndrome
Ectopia lentis, Iris coloboma ORPHA:1259
Coloboma, Ocular, Autosomal Recessive
Cataract, Iris coloboma, Lens subluxation, Optic disc coloboma, Retinal coloboma OMIM:216820
Infantile Spasms-Broad Thumbs Syndrome
Cataract, Hypertrophic cardiomyopathy ORPHA:3173
Nasopalpebral Lipoma-Coloboma Syndrome
Cataract, Bilateral microphthalmos, Microphthalmia, Conjunctival hyperemia, Corneal opacity, Colo... ORPHA:2399
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
X-Linked Intellectual Disability, Miles-Carpenter Type
Microcornea ORPHA:85283
Herpes Simplex Virus Stromal Keratitis
Corneal perforation, Descemet Membrane Folds, Herpetiform corneal ulceration, Corneal stromal ede... ORPHA:137599
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia
Cataract ORPHA:1366
Generalized Eruptive Keratoacanthoma
Keratoconjunctivitis sicca, Abnormal cornea morphology, Conjunctivitis ORPHA:411777
Alport Syndrome 3, Autosomal Dominant