Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
major intrinsic protein of lens fiber
Synonyms:
Aqp0,  lens opacity,  aquaporin 0,  Cts,  MIP26,  Lop,  Svl,  shrivelled

IMPC Data Collections

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

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.

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Mip 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 associated to Mip by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Cataract 15, Multiple Types
Nuclear cataract, Lamellar cataract, Cataract, Developmental cataract, Cortical cataract OMIM:615274

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 29
Cataract OMIM:115800
Cataract 35
Cataract OMIM:609376
Cataract 36
Cataract OMIM:613887
Cataract 18
Cataract OMIM:610019
Cataract 20, Multiple Types
Membranous cataract, Cataract OMIM:116100
Cataract 4, Multiple Types
Developmental cataract OMIM:115700
Cataract 39, Multiple Types
Developmental cataract OMIM:615188
Cataract 13 With Adult I Phenotype
Developmental cataract OMIM:116700
Cataract 37
Developmental cataract OMIM:614422
Cataract 45
Developmental cataract OMIM:616851
Cataract 38
Developmental cataract OMIM:614691
Ectopia Lentis 2, Isolated, Autosomal Recessive
Ectopia lentis OMIM:225100
Ectopia Lentis 1, Isolated, Autosomal Dominant
Ectopia lentis OMIM:129600
Cataract 44
Developmental cataract OMIM:616509
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Hypertrophic Neuropathy And Cataract
Cataract OMIM:239900
Cochleosaccular Degeneration With Progressive Cataracts
Progressive cataract OMIM:120040
Microphthalmia, Isolated, With Coloboma 3
Iris coloboma, Cataract, Microphthalmia OMIM:610092
Microphthalmia, Isolated, With Coloboma 4
Microphthalmia, Microcornea, Coloboma OMIM:251505
Aniridia 3
Cataract OMIM:617142
Microphthalmia, Isolated, With Cataract 1
Cataract, Microphthalmia OMIM:156850
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Anterior Segment Dysgenesis 8
Microphakia, Ectopia pupillae, Uveal ectropion, Hypoplasia of the iris, Cataract, Iris transillum... OMIM:617319
Cataract 12, Multiple Types
Developmental cataract, Progressive cataract OMIM:611597
Microphthalmia, Isolated, With Coloboma 7
Microphthalmia, Coloboma OMIM:614497
Cataract 7
Developmental cataract OMIM:115660
Trichomegaly
Cataract OMIM:190330
Glaucoma-Ectopia Lentis-Microspherophakia-Stiff Joints-Short Stature Syndrome
Ectopia lentis ORPHA:2084
Congenital Primary Aphakia
Congenital aphakia, Microphthalmia, Sclerocornea, Aplasia/Hypoplasia affecting the anterior segme... ORPHA:83461
Cataract 10, Multiple Types
Posterior Y-sutural cataract, Developmental cataract, Zonular cataract OMIM:600881
Aldh18A1-Related De Barsy Syndrome
Cataract ORPHA:35664
Cataract 3, Multiple Types
Developmental cataract, Nuclear pulverulent cataract, Cerulean cataract, Sutural cataract OMIM:601547
Hydrocephaly-Cerebellar Agenesis Syndrome
Cataract ORPHA:1397
Microphthalmia, Isolated, With Coloboma 10
Anophthalmia, Iris coloboma, Microphthalmia, Microcoria, Chorioretinal coloboma OMIM:616428
Corneal Dystrophy, Groenouw Type I
Nodular corneal dystrophy, Granular corneal dystrophy, Cataract, Punctate corneal dystrophy OMIM:121900
Foveal Hypoplasia 1
Presenile cataracts, Hypoplasia of the fovea OMIM:136520
Pupillary Membrane, Persistence Of
Megalocornea, Developmental cataract, Persistent pupillary membrane OMIM:178900
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy
Juvenile cataract OMIM:212500
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome
Cataract ORPHA:73245
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma
Microspherophakia, Megalocornea, Iridodonesis, Deep anterior chamber, Ectopia lentis OMIM:251750
Cataract 11, Multiple Types
Cataract, Microphthalmia OMIM:610623
Corneal Degeneration, Band-Shaped Spheroid
Corneal degeneration OMIM:217520
Corneal Dystrophy, Lisch Epithelial
Corneal dystrophy OMIM:300778
Corneal Dystrophy, Fuchs Endothelial, 8
Corneal dystrophy OMIM:615523
Galactosemia Iv
Cataract OMIM:618881
Nathalie Syndrome
Cataract ORPHA:2663
Microphthalmia, Isolated, With Coloboma 6
Bilateral microphthalmos, Optic disc hypoplasia, Hypoplasia of the fovea, Coloboma OMIM:613703
Cataract 9, Multiple Types
Progressive cataract, Microcornea, Iris coloboma, Cataract, Developmental cataract, Microphthalmia OMIM:604219
Uncombable Hair Syndrome 2
Juvenile cataract OMIM:617251
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Cataract, Microcornea, Aniridia OMIM:106230
Microspherophakia With Hernia
Microspherophakia, Superior lens subluxation OMIM:157150
Cataract 14, Multiple Types
Zonular cataract OMIM:601885
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Cataract OMIM:300719
Cataract-Ataxia-Deafness-Retardation Syndrome
Developmental cataract OMIM:212710
Cataract 42
Developmental cataract OMIM:115900
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cataract, Chorioretinal coloboma OMIM:274205
Chorea, Remitting, With Nystagmus And Cataract
Cataract OMIM:601372
Cataract 40
Nuclear cataract, Sutural cataract OMIM:302200
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Cataract, Developmental cataract OMIM:613076
Anterior Segment Dysgenesis 2
Congenital aphakia, Corneal opacity, Microcornea, Peters anomaly, Cataract, Microphthalmia, Poste... OMIM:610256
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Cataract ORPHA:79281
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Anophthalmia, Microphthalmia ORPHA:85275
Microphthalmia, Isolated, With Coloboma 5
Anophthalmia, Iris coloboma, Bilateral microphthalmos, Microphthalmia, Chorioretinal coloboma OMIM:611638
Aniridia-Intellectual Disability Syndrome
Optic nerve hypoplasia, Cataract, Ectopia lentis, Aniridia ORPHA:1068
Anterior Segment Dysgenesis 7
Buphthalmos, Microcornea, Cataract, Ocular anterior segment dysgenesis, Microphthalmia, Sclerocornea OMIM:269400
Blindness-Scoliosis-Arachnodactyly Syndrome
Microphakia, Lens subluxation, Cataract ORPHA:171844
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Microphthalmia, Cataract, Coloboma OMIM:120433
Galactosemia Ii
Cataract OMIM:230200
Cataract-Microcornea Syndrome
Corneal opacity, Microcornea, Iris coloboma, Cataract, Corneal dystrophy ORPHA:1377
Foveal Hypoplasia-Presenile Cataract Syndrome
Cataract ORPHA:2253
X-Linked Retinoschisis
Cataract ORPHA:792
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Remnants of the hyaloid vascular system, Posterior lenticonus, Microcornea, Iris coloboma, Microp... ORPHA:231736
Microspherophakia-Metaphyseal Dysplasia
Microspherophakia, Lens subluxation, Lens coloboma OMIM:157151
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Cataract OMIM:254000
Iris Pigment Layer, Cleavage Of
Cataract OMIM:147610
Genetic Hyperferritinemia Without Iron Overload
Cataract ORPHA:254704
Microphthalmia, Isolated 4
Microphthalmia, Coloboma OMIM:613094
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Cataract, Aplasia/Hypoplasia of the lens ORPHA:1381
Congenital Varicella Syndrome
Cataract, Microphthalmia ORPHA:291
Microphthalmia, Isolated 3
Anophthalmia, Sclerocornea, Microphthalmia OMIM:611038
Spinocerebellar Degeneration With Macular Corneal Dystrophy, Congenital Cataracts, And Myopia
Developmental cataract, Corneal dystrophy OMIM:271320
Cataract 47
Cataract, Microcornea OMIM:612018
Foveal Hypoplasia 2
Axenfeld anomaly, Posterior embryotoxon, Hypoplasia of the fovea, Microphthalmia OMIM:609218
Hypoalphalipoproteinemia, Primary, 2
Cataract, Corneal arcus OMIM:618463
Glaucoma 3, Primary Congenital, D
Corneal opacity, Primary congenital glaucoma, Ectopia lentis OMIM:613086
Cataract 1, Multiple Types
Nuclear cataract, Posterior subcapsular cataract, Microcornea, Pulverulent cataract, Developmenta... OMIM:116200
Cataract 8, Multiple Types
Nuclear cataract, Developmental cataract OMIM:115665
Macrosomia With Microphthalmia, Lethal
Microphthalmia OMIM:248110
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Corneal opacity, Microcornea, Microphthalmia ORPHA:2432
Spastic Paraparesis And Deafness
Cataract OMIM:312910
Cataract 22, Multiple Types
Nuclear cataract, Developmental cataract OMIM:609741
Nanophthalmos 4
Microphthalmia OMIM:615972
Proximal Myotonic Myopathy
Cataract ORPHA:606
Spinocerebellar Ataxia, Autosomal Recessive 24
Cataract OMIM:617133
Cataract 15, Multiple Types
Nuclear cataract, Lamellar cataract, Cataract, Developmental cataract, Cortical cataract OMIM:615274
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Iris coloboma, Microphthalmia, Cataract, Chorioretinal coloboma OMIM:212550
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Cataract OMIM:618660
Anterior Segment Dysgenesis 5
Posterior embryotoxon, Hypoplasia of the fovea, Microcornea, Peters anomaly, Rieger anomaly, Hypo... OMIM:604229
Microphthalmia, Isolated 6
Microcornea, Microphthalmia OMIM:613517
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Coloboma, Peters anomaly, Iris coloboma, Ocular anterior segment dysgenesis, Microphthalmia OMIM:610023
Weill-Marchesani Syndrome 3
Microspherophakia, Shallow anterior chamber, Ectopia lentis OMIM:614819
Microphthalmia, Isolated 1
Anophthalmia, Microphthalmia OMIM:251600
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal opacity, Corneal dystrophy OMIM:609140
Retinitis Pigmentosa 84
Macular coloboma, Cataract OMIM:618220
Isolated Aniridia
Peters anomaly, Aniridia, Aplasia/Hypoplasia of the macula, Cataract ORPHA:250923
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Cataract OMIM:619813
Cortical Dysplasia, Complex, With Other Brain Malformations 4
Cataract OMIM:615412
Autosomal Dominant Keratitis
Keratitis, Hypoplastic iris stroma, Corneal neovascularization, Macular hypoplasia, Opacification... ORPHA:2334
Nathalie Syndrome
Cataract OMIM:255990
Aniridia 2
Iris coloboma, Lens subluxation, Cataract, Aniridia OMIM:617141
Cataract-Nephropathy-Encephalopathy Syndrome
Cataract ORPHA:1380
Ectopia Lentis Et Pupillae
Cataract, Ectopia lentis, Persistent pupillary membrane OMIM:225200
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Cataract OMIM:610156
Cataract, Age-Related Nuclear
Nuclear cataract OMIM:601371
Cataract 41
Nuclear cataract OMIM:116400
Cataract 21, Multiple Types
Cerulean cataract, Microcornea, Cortical pulverulent cataract, Iris coloboma, Macular hypoplasia OMIM:610202
Xeroderma Pigmentosum, Complementation Group G
Cataract, Microphthalmia OMIM:278780
Hypomyelination-Congenital Cataract Syndrome
Developmental cataract ORPHA:85163
Microphthalmia, Isolated, With Corectopia
Ectopia pupillae, Microphthalmia OMIM:156900
Microcephaly-Microcornea Syndrome, Seemanova Type
Cataract, Microcornea, Microphthalmia ORPHA:2528
Myopia 17, Autosomal Dominant
Presenile cataracts OMIM:608367
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Encephalopathy, Axonal, With Necrotizing Myopathy, Cardiomyopathy, And Cataracts
Cataract OMIM:225740
Blepharoptosis, Myopia, And Ectopia Lentis
Ectopia lentis, Increased axial length of the globe OMIM:110150
Gombo Syndrome
Microphthalmia OMIM:233270
Cataract-Deafness-Hypogonadism Syndrome
Developmental cataract ORPHA:1383
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Corneal opacity, Posterior embryotoxon, Iris coloboma, Cataract, Microphthalmia, Chorioretinal co... ORPHA:1473
Dermoids Of Cornea
Corneal opacity OMIM:304730
Aniridia And Absent Patella
Cataract, Aniridia OMIM:106220
Coats Disease
Abnormal anterior chamber morphology, Aplasia/Hypoplasia of the iris, Cataract ORPHA:190
Kyrle Disease
Posterior subcapsular cataract OMIM:149500
Cataract 43
Posterior subcapsular cataract OMIM:616279
Optic Atrophy 3, Autosomal Dominant
Cataract OMIM:165300
Dysequilibrium Syndrome
Cataract ORPHA:1766
Cataract 16, Multiple Types
Posterior polar cataract, Developmental cataract OMIM:613763
Hyperferritinemia With Or Without Cataract
Pulverulent cataract, Nuclear cataract OMIM:600886
Oculoauricular Syndrome
Microphakia, Phthisis bulbi, Microphthalmia, Posterior embryotoxon, Microcornea, Iris coloboma, C... OMIM:612109
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Microphthalmia, Developmental cataract, Ocular anterior segment dysgenesis, Coloboma ORPHA:324416
Megalocornea
Lens subluxation, Mosaic corneal dystrophy, Megalocornea, Astigmatism, Iridodonesis, Cataract, Ir... OMIM:309300
Glaucoma 3, Primary Infantile, B
Primary congenital glaucoma OMIM:600975
Bardet-Biedl Syndrome 18
Cataract OMIM:615995
Edict Syndrome
Microcornea, Astigmatism, Hypoplasia of the iris, Keratoconus, Developmental cataract OMIM:614303
Ehlers-Danlos Syndrome, Beasley-Cohen Type
Cataract, Bilateral microphthalmos OMIM:608763
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Cataract, Microcornea OMIM:619082
Myopia, High, With Cataract And Vitreoretinal Degeneration
Lens subluxation, Cataract OMIM:614292
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia OMIM:615771
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia OMIM:251700
Myopia 28, Autosomal Recessive
Cataract OMIM:619781
Nance-Horan Syndrome
Developmental cataract, Microcornea, Posterior Y-sutural cataract, Microphthalmia OMIM:302350
Anterior Segment Dysgenesis 3
Hypoplastic iris stroma, Abnormal iris vasculature, Ectopia pupillae, Axenfeld anomaly, Posterior... OMIM:601631
Microphthalmia, Syndromic 13
Microphthalmia, Microcornea, Coloboma OMIM:300915
Cataract 17, Multiple Types
Pulverulent cataract, Developmental cataract, Nuclear cataract, Microcornea OMIM:611544
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Retinal coloboma, Cataract, Microphthalmia OMIM:601794
Spondylo-Ocular Syndrome
Iris hypopigmentation, Cataract, Aplasia/Hypoplasia of the lens, Microphthalmia ORPHA:85194
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Cataract, Microcornea, Microphthalmia OMIM:616171
Spastic Paraparesis-Deafness Syndrome
Cataract ORPHA:2815
Leber Congenital Amaurosis 7
Keratoconus, Cataract OMIM:613829
Leg, Absence Deformity Of, With Congenital Cataract
Developmental cataract, Progressive cataract OMIM:246000
Cataract 30, Multiple Types
Diffuse nuclear cataract, Pulverulent cataract, Posterior polar cataract OMIM:116300
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Corneal opacity, Aplasia/Hypoplasia of the iris, Cataract, Persistent pupillary membrane ORPHA:1067
Cataract 5, Multiple Types
Nuclear cataract, Zonular cataract, Anterior polar cataract, Lamellar cataract, Pulverulent cataract OMIM:116800
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Retinal coloboma, Cataract, Microphthalmia ORPHA:363741
Anterior Segment Dysgenesis 1
Posterior polar cataract, Opacification of the corneal stroma, Microcornea, Peters anomaly, Ocula... OMIM:107250
Cataract 32, Multiple Types
Anterior polar cataract OMIM:115650
Thanatophoric Dysplasia, Glasgow Variant
Cataract OMIM:273680
Retinitis Pigmentosa 40
Cataract OMIM:613801
Pellagra-Like Syndrome
Cataract OMIM:260650
2Q24 Microdeletion Syndrome
Microphthalmia, Abnormality iris morphology, Cataract, Coloboma ORPHA:1617
Peters Anomaly
Subcapsular cataract, Central opacification of the cornea, Thinning of Descemet membrane, Opacifi... ORPHA:708
Exfoliation Syndrome
Lens subluxation, Anisocoria, Mydriasis, Pseudoexfoliation, Cataract, Phakodonesis, Pigment depos... OMIM:177650
Cataract, Microcephaly, Failure To Thrive, Kyphoscoliosis Syndrome
Cataract OMIM:212540
Nanophthalmos
Microphthalmia ORPHA:35612
Cataract 31, Multiple Types
Nuclear cataract, Posterior subcapsular cataract, Anterior subcapsular cataract OMIM:605387
Retinitis Pigmentosa 23
Posterior subcapsular cataract OMIM:300424
Idiopathic Uveal Effusion Syndrome
Abnormal anterior eye segment morphology, Microphthalmia ORPHA:209956
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
Cataract ORPHA:2278
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Shallow anterior chamber, Microphthalmia OMIM:267760
Cochleosaccular Degeneration-Cataract Syndrome
Cataract ORPHA:3233
Leber Congenital Amaurosis 6
Keratoconus, Cataract OMIM:613826
Cornea Guttata With Anterior Polar Cataracts
Anterior polar cataract OMIM:121390
Autosomal Recessive Spastic Paraplegia Type 69
Cataract ORPHA:401830
Cataract 6, Multiple Types
Posterior polar cataract, Developmental cataract OMIM:116600
Insulinomatosis And Diabetes Mellitus
Developmental cataract, Developmental glaucoma OMIM:147630
Kahrizi Syndrome
Iris coloboma, Cataract OMIM:612713
Cataract 33, Multiple Types
Cortical cataract, Lamellar cataract, Nuclear cataract OMIM:611391
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
Hypogonadism-Cataract Syndrome
Cataract OMIM:240950
Cataract 2, Multiple Types
Developmental cataract, Nuclear cataract, Microcornea OMIM:604307
Bilateral Acute Depigmentation Of The Iris
Hypoplastic iris stroma, Iris pigment dispersion, Abnormal anterior chamber morphology, Pigment d... ORPHA:69736
Stickler Syndrome Type 2
Corneal opacity, Cataract ORPHA:90654
Biemond Syndrome Type 2
Microphthalmia, Coloboma ORPHA:141333
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Cataract OMIM:609115
Isolated Optic Nerve Hypoplasia/Aplasia
Corneal opacity, Optic nerve hypoplasia, Unilateral microphthalmos, Optic disc hypoplasia, Aplasi... ORPHA:137902
Cataract 24
Anterior polar cataract OMIM:601202
Intellectual Developmental Disorder And Retinitis Pigmentosa
Cataract OMIM:618195
Exudative Vitreoretinopathy 6
Cataract OMIM:616468
Coloboma, Ocular, Autosomal Dominant
Remnants of the hyaloid vascular system, Corneal opacity, Optic disc coloboma, Peters anomaly, Mi... OMIM:120200
Cerebrooculofacioskeletal Syndrome 3
Microphthalmia OMIM:616570
Retinitis Pigmentosa 4
Cataract OMIM:613731
Intellectual Disability-Cataracts-Kyphosis Syndrome
Iris coloboma, Cataract ORPHA:171860
Martsolf Syndrome 2
Cataract, Developmental cataract OMIM:619420
Dihydropyrimidine Dehydrogenase Deficiency
Microphthalmia, Coloboma OMIM:274270
Chromosome 11P13 Deletion Syndrome, Distal
Aniridia OMIM:616902
Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type
Cataract OMIM:300261
Microphthalmia, Isolated 8
Retinal coloboma, Optic nerve hypoplasia, Anophthalmia, True anophthalmia, Microphthalmia OMIM:615113
Oculopalatocerebral Syndrome
Remnants of the hyaloid vascular system, Microphthalmia, Leukocoria OMIM:257910
Nail-Patella Syndrome
Microphakia, Microcornea, Keratoconus, Cataract, Lester's sign, Antecubital pterygium OMIM:161200
Cat-Eye Syndrome
Iris coloboma, Microphthalmia, Chorioretinal coloboma ORPHA:195
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome
Cataract, Corneal dystrophy ORPHA:1369
Otodental Syndrome
Microcornea, Iris coloboma, Cataract, Microphthalmia, Lens coloboma ORPHA:2791
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts
Cataract OMIM:183800
Norrie Disease
Corneal opacity, Shallow anterior chamber, Buphthalmos, Opacification of the corneal stroma, Hypo... OMIM:310600
Absence Deformity Of Leg-Cataract Syndrome
Cataract ORPHA:2310
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Corneal opacity, Remnants of the hyaloid vascular system, Shallow anterior chamber, Microphthalmi... OMIM:221900
Persistent Hyperplastic Primary Vitreous
Corneal opacity, Remnants of the hyaloid vascular system, Shallow anterior chamber, Microphthalmi... ORPHA:91495
Upper Limb Defect-Eye And Ear Abnormalities Syndrome
Cataract, Chorioretinal coloboma ORPHA:2489
Supernumerary Nostril
Developmental cataract, Microcornea ORPHA:141096
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Cataract, Microphthalmia OMIM:251270
Microphthalmia With Brain And Digit Anomalies
Anophthalmia, Microcornea, Iris coloboma, Cataract, Microphthalmia, Sclerocornea, Chorioretinal c... ORPHA:139471
Cataract 23, Multiple Types
Lamellar cataract OMIM:610425
Microphthalmia, Syndromic 5
Optic nerve hypoplasia, Anophthalmia, Microcornea, Coloboma, Cataract, Microphthalmia OMIM:610125
Leber Congenital Amaurosis 16
Cataract OMIM:614186
Morm Syndrome
Cataract ORPHA:75858
Congenital Cataracts, Hearing Loss, And Neurodegeneration
Cataract, Developmental cataract OMIM:614482
Vitreoretinal Degeneration, Snowflake Type
Corneal guttata, Cataract OMIM:193230
Polycystic Kidney, Cataract, And Congenital Blindness
Hypoplasia of the retina, Microcoria, Cataract OMIM:263100
Microphthalmia, Isolated 5
Cataract, Microphthalmia OMIM:611040
X-Linked Endothelial Corneal Dystrophy
Corneal opacity, Nuclear cataract, Band keratopathy, Abnormal corneal endothelium morphology ORPHA:293621
Peroxisome Biogenesis Disorder 8A (Zellweger)
Cataract OMIM:614876
Retinitis Pigmentosa 9
Cataract OMIM:180104
Retinal Dystrophy And Iris Coloboma With Or Without Congenital Cataract
Posterior synechiae of the anterior chamber, Iris coloboma, Developmental cataract OMIM:616722
Amoebic Keratitis
Corneal perforation, Corneal ulceration, Abnormal cornea morphology, Abnormal anterior chamber mo... ORPHA:67043
Retinitis Pigmentosa 37
Cataract OMIM:611131
Cardiomyopathy, Dilated, 1Ii
Cataract OMIM:615184
Cofs Syndrome
Cataract, Microphthalmia ORPHA:1466
Coloboma, Ocular, Autosomal Recessive
Lens subluxation, Retinal coloboma, Optic disc coloboma, Iris coloboma, Cataract OMIM:216820
Nance-Horan Syndrome
Cataract, Microcornea, Microphthalmia ORPHA:627
Cataract-Aberrant Oral Frenula-Growth Delay Syndrome
Cataract ORPHA:1373
Microphthalmia, Syndromic 8
Microcornea, Microphthalmia OMIM:601349
Iris Hypoplasia With Glaucoma
Hypoplasia of the iris, Iris atrophy OMIM:308500
Mmep Syndrome
Microphthalmia ORPHA:3434
Microphthalmia, Isolated, With Coloboma 9
Microcornea, Iris coloboma, Ocular anterior segment dysgenesis, Microphthalmia, Sclerocornea OMIM:615145
Cerebrooculofacioskeletal Syndrome 2
Cataract, Developmental cataract, Microphthalmia OMIM:610756
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Optic nerve hypoplasia, Cataract, Microphthalmia OMIM:615181
Fryns Microphthalmia Syndrome
Anophthalmia, Microphthalmia OMIM:600776
Aniridia-Absent Patella Syndrome
Aniridia, Cataract ORPHA:1069
WAGR 11p13 deletion syndrome
Aniridia DECIPHER:35
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Cataract, Microcornea, Microphthalmia ORPHA:48431
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts
Developmental cataract OMIM:600559
X-Linked Immunoneurologic Disorder
Cataract ORPHA:2571
Triokinase And Fmn Cyclase Deficiency Syndrome
Cataract, Microphthalmia OMIM:618805
Achromatopsia 3
Cataract OMIM:262300
Faciothoracogenital Syndrome
Microphthalmia OMIM:227320
Lissencephaly 8
Cataract, Microphthalmia OMIM:617255
Wagner Vitreoretinopathy
Cataract OMIM:143200
Dwarfism, Mental Retardation, And Eye Abnormality
Hypoplasia of the iris, Nuclear cataract OMIM:223540
Dextrocardia With Unusual Facies And Microphthalmia
Anophthalmia, Microphthalmia OMIM:221950
Temtamy Syndrome
Iris coloboma, Microphthalmia, Chorioretinal coloboma ORPHA:1777
Developmental Delay With Variable Neurologic And Brain Abnormalities
Astigmatism, Cataract, Microphthalmia OMIM:619694
Galactose Epimerase Deficiency
Cataract ORPHA:79238
Bartsocas-Papas Syndrome 2
Corneal opacity, Microphthalmia, Popliteal pterygium, Axillary pterygium, Antecubital pterygium OMIM:619339
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Microphthalmia OMIM:614830
Rodrigues Blindness
Microcornea, Sclerocornea, Microphthalmia OMIM:268320
Oculocerebral Hypopigmentation Syndrome Of Preus
Cataract OMIM:257790
Galactose Mutarotase Deficiency
Cataract ORPHA:570422
Aniridia, Partial, With Unilateral Renal Agenesis And Psychomotor Retardation
Aniridia, Developmental glaucoma OMIM:206750
Microphthalmia, Syndromic 12
Anophthalmia, Microphthalmia OMIM:615524
Warburg Micro Syndrome 1
Developmental cataract, Microcornea, Microphthalmia OMIM:600118
Kniest Dysplasia
Cataract, Aplasia/Hypoplasia of the lens, Lens luxation ORPHA:485
Pelvis-Shoulder Dysplasia
Iris coloboma, Opacification of the corneal stroma, Optic disc coloboma, Microphthalmia OMIM:169550
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Microphthalmia, Coloboma OMIM:617306
Adams-Oliver Syndrome 4
Microphthalmia OMIM:615297
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Cataract, Microphthalmia OMIM:614105
Combined Oxidative Phosphorylation Deficiency 31
Cataract OMIM:617228
Congenital Rubella Syndrome
Corneal opacity, Aplasia/Hypoplasia of the iris, Cataract, Microphthalmia ORPHA:290
Adams-Oliver Syndrome 2
Developmental cataract, Microphthalmia OMIM:614219
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Corneal opacity, Microphthalmia, Cataract, Coloboma OMIM:613153
Ectodermal Dysplasia-Blindness Syndrome
Microcornea, Cataract, Corneal dystrophy, Microphthalmia, Keratoconjunctivitis sicca, Sclerocornea ORPHA:1806
Peroxisome Biogenesis Disorder 11B
Cataract OMIM:614885
Cahmr Syndrome
Lamellar cataract OMIM:211770
Usher Syndrome Type 3
Iris hypopigmentation, Cataract, Astigmatism ORPHA:231183
Oculogastrointestinal Neurodevelopmental Syndrome
Bilateral microphthalmos, Unilateral microphthalmos, Coloboma OMIM:619318
Joubert Syndrome 22
Microphthalmia, Coloboma OMIM:615665
Anterior Segment Dysgenesis 6
Corneal opacity, Abnormal Descemet membrane morphology, Corneal neovascularization, Developmental... OMIM:617315
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Cataract, Microphthalmia ORPHA:93267
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Lens coloboma, Microphthalmia OMIM:618914
Morning Glory Disc Anomaly
Cataract, Optic disc coloboma ORPHA:35737
Dermatitis, Atopic
Keratoconus, Cataract, Conjunctivitis OMIM:603165
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Ectopia pupillae, Anophthalmia, Microcornea, Coloboma, Cataract, Microphthalmia, Sclerocornea OMIM:615877
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Cataract OMIM:613154
Isolated Ectopia Lentis
Ectopia pupillae, Cataract, Ectopia lentis ORPHA:1885
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation
Corneal opacity, Myopic astigmatism, Microcornea, Astigmatism, Cataract, Microphthalmia OMIM:152950
Wagr Syndrome
Aplasia/Hypoplasia of the iris, Cataract ORPHA:893
Fanconi Anemia, Complementation Group J
Microphthalmia OMIM:609054
Cataracts, Spastic Paraparesis, And Speech Delay
Cataract OMIM:619338
Microphthalmia, Syndromic 11
Microphthalmia OMIM:614402
Fanconi Anemia, Complementation Group G
Microphthalmia OMIM:614082
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Abnormally large globe, Microphthalmia, Cataract, Coloboma OMIM:615249
Leber Congenital Amaurosis 8
Macular coloboma, Keratoconus, Cataract OMIM:613835
Frontofacionasal Dysplasia
Limbal dermoid, Microcornea, Iris coloboma, Cataract, Brushfield spots, Microphthalmia ORPHA:1791
Frontonasal Dysplasia 1
Microphthalmia, Cataract, Coloboma OMIM:136760
Dwarfism With Stiff Joints And Ocular Abnormalities
Cataract OMIM:127200
Aniridia 1
Corneal neovascularization, Optic nerve hypoplasia, Ectopia pupillae, Opacification of the cornea... OMIM:106210
Peroxisome Biogenesis Disorder 9B
Cataract OMIM:614879
Pierpont Syndrome
Microcornea, Microphthalmia ORPHA:487825
Neurooculocardiogenitourinary Syndrome
Peters anomaly, Microphthalmia, Coloboma OMIM:618652
Microcephaly 20, Primary, Autosomal Recessive
Optic nerve hypoplasia, Microphthalmia OMIM:617914
Vitreoretinochoroidopathy
Pulverulent cataract, Microcornea, Microphthalmia OMIM:193220
Leber Congenital Amaurosis
Keratoconus, Cataract ORPHA:65
Xk Aprosencephaly Syndrome
Microphthalmia ORPHA:3469
Craniotelencephalic Dysplasia
Optic nerve hypoplasia, Microphthalmia OMIM:218670
Cryptophthalmos, Unilateral Or Bilateral, Isolated
Microphthalmia OMIM:123570
Congenital Disorder Of Glycosylation, Type Iq
Microphthalmia, Cataract, Coloboma OMIM:612379
Chromosome 17Q12 Duplication Syndrome
Peters anomaly, Microphthalmia OMIM:614526
Nasopalpebral Lipoma-Coloboma Syndrome
Corneal opacity, Coloboma, Cataract, Bilateral microphthalmos, Microphthalmia, Conjunctival hyper... ORPHA:2399
Meckel Syndrome, Type 8
Anophthalmia, Microphthalmia OMIM:613885
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Cataract OMIM:613730
Stiff Skin Syndrome
Cataract OMIM:184900
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia
Cataract ORPHA:1366
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Cataract ORPHA:1345
Warburg Micro Syndrome 2
Developmental cataract, Cataract, Microcornea, Microphthalmia OMIM:614225
Pierpont Syndrome
Microcornea, Microphthalmia OMIM:602342
Woolly Hair
Abnormal pupil morphology, Cataract ORPHA:170
Xeroderma Pigmentosum, Complementation Group D
Keratitis, Corneal neovascularization, Cataract, Microphthalmia, Keratoconjunctivitis sicca, Conj... OMIM:278730
Warburg Micro Syndrome 3
Shallow anterior chamber, Microcornea, Cataract, Developmental cataract, Microphthalmia OMIM:614222
Nasopalpebral Lipoma-Coloboma Syndrome
Coloboma, Microphthalmia, Conjunctival hyperemia OMIM:167730
Baraitser-Winter Syndrome 2
Microphthalmia, Coloboma OMIM:614583
Solitary Median Maxillary Central Incisor
Microphthalmia, Cyclopia, Anophthalmia, Coloboma OMIM:147250
Weill-Marchesani Syndrome
Cataract, Ectopia lentis ORPHA:3449
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Iris coloboma, Anophthalmia, Sclerocornea, Microphthalmia ORPHA:77298
Cataract 49
Posterior cortical cataract OMIM:619593
Curry-Jones Syndrome
Iris coloboma, Optic disc coloboma, Microphthalmia ORPHA:1553
Craniolenticulosutural Dysplasia
Posterior Y-sutural cataract ORPHA:50814
3Q29 Microduplication Syndrome
Iris coloboma, Cataract, Microphthalmia, Aniridia, Sclerocornea ORPHA:251038
Craniotelencephalic Dysplasia
Septo-optic dysplasia, Microphthalmia ORPHA:1528
Oculocerebrocutaneous Syndrome
Anophthalmia, Microphthalmia OMIM:164180
Phace Syndrome
Heterochromia iridis, Optic nerve hypoplasia, Iris coloboma, Cataract, Microphthalmia, Lens colob... ORPHA:42775
Osteoporosis-Pseudoglioma Syndrome
Corneal opacity, Microphthalmia ORPHA:2788
Manitoba Oculotrichoanal Syndrome
Anophthalmia, Microphthalmia OMIM:248450
Craniolenticulosutural Dysplasia
Punctate cataract, Posterior Y-sutural cataract OMIM:607812
Weill-Marchesani Syndrome 1
Shallow anterior chamber, Microspherophakia, Cataract, Ectopia lentis OMIM:277600
Bresek Syndrome
Optic nerve hypoplasia, Iris coloboma, Microphthalmia ORPHA:85284
Congenital Muscular Dystrophy With Cerebellar Involvement
Microphthalmia, Optic nerve hypoplasia, Megalocornea, Coloboma, Cataract, Abnormality iris morpho... ORPHA:370959
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Buphthalmos, Cataract, Microphthalmia OMIM:616538
Hereditary Leiomyomatosis And Renal Cell Cancer
Cataract ORPHA:523
Peroxisome Biogenesis Disorder 10B
Cataract OMIM:617370
Exudative Vitreoretinopathy 2, X-Linked
Shallow anterior chamber, Microphthalmia OMIM:305390
Iridocorneal Endothelial Syndrome
Hypoplastic iris stroma, Polycoria, Corneal stromal edema, Ectopia pupillae, Iris nevus, Uveal ec... ORPHA:64734
Norrie Disease
Corneal opacity, Abnormal pupil morphology, Anterior chamber synechiae, Aplasia/Hypoplasia of the... ORPHA:649
Histiocytoid Cardiomyopathy
Congenital aphakia, Corneal opacity, Megalocornea, Microphthalmia ORPHA:137675
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs
Spherophakia, Shallow anterior chamber, Spontaneous conjunctival filtering bleb, Cataract, Anteri... OMIM:601552
Joubert Syndrome 9
Cataract, Astigmatism OMIM:612285
Osteoporosis-Pseudoglioma Syndrome
Phthisis bulbi, Cataract, Absent anterior chamber of the eye, Microphthalmia, Iris atrophy OMIM:259770
Trisomy 13
Anophthalmia, Iris coloboma, Cataract, Microphthalmia, Aplasia/Hypoplasia of the iris ORPHA:3378
Monilethrix
Cataract ORPHA:573
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Microphthalmia ORPHA:1135
Oculofaciocardiodental Syndrome
Microcornea, Iris coloboma, Cataract, Microphthalmia, Ectopia lentis ORPHA:2712
Trichothiodystrophy 3, Photosensitive
Cataract, Developmental cataract, Microphthalmia OMIM:616395
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation
Band keratopathy, Cataract OMIM:604278
Kapur-Toriello Syndrome
Retinal coloboma, Iris coloboma, Microphthalmia ORPHA:2328
Congenital Fibrinogen Deficiency
Developmental cataract, Microphthalmia ORPHA:335
Tetraamelia-Multiple Malformations Syndrome
Microcornea, Iris coloboma, Cataract, Septo-optic dysplasia, Microphthalmia ORPHA:3301
Stromme Syndrome
Optic nerve hypoplasia, Microcornea, Peters anomaly, Iris coloboma, Cataract, Microphthalmia, Scl... OMIM:243605
Cerebrooculofacioskeletal Syndrome 1
Cataract, Microphthalmia OMIM:214150
Rere-Related Neurodevelopmental Syndrome
Astigmatism, Peters anomaly, Iris coloboma, Microphthalmia, Chorioretinal coloboma ORPHA:494344
Weill-Marchesani Syndrome 2
Microspherophakia, Shallow anterior chamber, Lens luxation, Astigmatism, Iridodonesis, Cataract, ... OMIM:608328
Familial Exudative Vitreoretinopathy
Cataract, Microphthalmia ORPHA:891
Sandestig-Stefanova Syndrome
Developmental cataract, Microphthalmia OMIM:618804
Oculo-Palato-Cerebral Syndrome
Remnants of the hyaloid vascular system, Microphthalmia, Cataract, Leukocoria ORPHA:2714
Male Pseudohermaphroditism/Mental Retardation Syndrome, Verloes Type
Bilateral microphthalmos, Chorioretinal coloboma OMIM:600122
Encephalocraniocutaneous Lipomatosis
Abnormal anterior chamber morphology, Limbal dermoid, Hypoplasia of the iris, Microphthalmia, Scl... OMIM:613001
Warburg Micro Syndrome 4
Developmental cataract, Microcornea, Microphthalmia OMIM:615663
Joubert Syndrome 14
Microphthalmia, Coloboma OMIM:614424
Hypoparathyroidism, Familial Isolated, 1
Cataract OMIM:146200
Braddock-Carey Syndrome 2
Microphthalmia OMIM:619981
Gyrate Atrophy Of Choroid And Retina
Subcapsular cataract, Cataract ORPHA:414
Frontonasal Dysplasia 3
Microphthalmia OMIM:613456
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Microphthalmia OMIM:602501
Walker-Warburg Syndrome
Corneal opacity, Anophthalmia, Microcornea, Iris coloboma, Cataract, Microphthalmia ORPHA:899
Congenital Toxoplasmosis
Microphthalmia ORPHA:858
Pierson Syndrome
Remnants of the hyaloid vascular system, Macular hypoplasia, Uveal ectropion, Posterior lenticonu... OMIM:609049
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Ectopia pupillae, Astigmatism, Cataract, Microphthalmia OMIM:618727
Hartsfield Syndrome
Microphthalmia ORPHA:2117
Kapur-Toriello Syndrome
Retinal coloboma, Iris coloboma, Cataract, Microphthalmia OMIM:244300
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Retinal coloboma, Microphthalmia, Cataract, Astigmatism OMIM:618571
Ifap Syndrome 2
Keratitis, Keratoconjunctivitis sicca, Cataract OMIM:619016
Premature Aging Syndrome, Okamoto Type
Cataract OMIM:601811
Refsum Disease
Cataract, Microphthalmia ORPHA:773
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Microphthalmia ORPHA:2547
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Cataract, Microphthalmia ORPHA:163649
Microphthalmia, Lenz Type
Microcornea, Optic disc coloboma, Iris coloboma, Cataract, Microphthalmia, Chorioretinal coloboma ORPHA:568
Gracile Bone Dysplasia
Aniridia, Microphthalmia OMIM:602361
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Cataract, Corneal erosion OMIM:614878
Chromosome 16Q12 Duplication Syndrome
Anisocoria, Cataract OMIM:619649
Stevenson-Carey Syndrome
Microphthalmia, Coloboma OMIM:611961
Baraitser-Winter Syndrome 1
Iris coloboma, Microphthalmia, Chorioretinal coloboma OMIM:243310
Alport Syndrome 2, Autosomal Recessive
Cataract, Corneal erosion, Anterior lenticonus OMIM:203780
8Q21.11 Microdeletion Syndrome
Corneal opacity, Iris hypopigmentation, Cataract, Microphthalmia, Sclerocornea ORPHA:284160
Developmental And Epileptic Encephalopathy 1
Microphthalmia OMIM:308350
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Buphthalmos, Peters anomaly, Cataract, Microphthalmia, Persistent pupillary membrane OMIM:613150
17Q12 Microduplication Syndrome
Microphthalmia ORPHA:261272
Xeroderma Pigmentosum, Complementation Group B
Cataract, Microphthalmia OMIM:610651
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Keratitis, Cataract, Conjunctivitis OMIM:612843
Micro Syndrome
Retinal coloboma, Cataract, Microcornea, Microphthalmia ORPHA:2510
Seckel Syndrome 2
Microphthalmia OMIM:606744
Curry-Jones Syndrome
Microphthalmia, Coloboma OMIM:601707
Frontorhiny
Iris coloboma, Cataract, Microphthalmia ORPHA:391474
Trichothiodystrophy 4, Nonphotosensitive
Keratoconjunctivitis sicca, Microcornea, Microphthalmia OMIM:234050
Familial Isolated Hypoparathyroidism
Cataract ORPHA:2238
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Optic nerve hypoplasia, Microphthalmia OMIM:614833
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Iris coloboma, Cataract, Anophthalmia, Microphthalmia ORPHA:2250
Oculodentodigital Dysplasia, Autosomal Recessive
Cataract, Microcornea, Persistent pupillary membrane, Microphthalmia OMIM:257850
Phace Association
Optic nerve hypoplasia, Developmental cataract, Microphthalmia OMIM:606519
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Peters anomaly, Cataract, Microp... OMIM:614643
Enhanced S-Cone Syndrome
Cataract OMIM:268100
Skin Creases, Congenital Symmetric Circumferential, 2
Microcornea, Microphthalmia OMIM:616734
X-Linked Dominant Chondrodysplasia Punctata
Cataract, Microcornea, Microphthalmia ORPHA:35173
Oculotrichoanal Syndrome
Anophthalmia, Microphthalmia ORPHA:2717
Fanconi Anemia, Complementation Group I
Optic nerve hypoplasia, Astigmatism, Microphthalmia OMIM:609053
Microphthalmia, Syndromic 3
Optic nerve hypoplasia, Anophthalmia, Coloboma, Cataract, Microphthalmia, Optic nerve aplasia, Sc... OMIM:206900
Ring Chromosome 10 Syndrome
Microphthalmia ORPHA:1438
Acro-Renal-Ocular Syndrome
Microcornea, Optic disc coloboma, Coloboma, Iris coloboma, Cataract, Optic disc hypoplasia, Micro... ORPHA:959
Multiple Benign Circumferential Skin Creases On Limbs
Microcornea, Microphthalmia ORPHA:2505
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Corneal opacity, Lens subluxation, Ectopia pupillae, Coloboma, Microphthalmia ORPHA:85167
Meckel Syndrome, Type 5
Microphthalmia OMIM:611561
Subaortic Stenosis-Short Stature Syndrome
Microphthalmia ORPHA:3191
Chromosome 8Q21.11 Deletion Syndrome
Cataract, Sclerocornea, Microphthalmia OMIM:614230
Papillorenal Syndrome
Lens luxation, Retinal coloboma, Optic disc coloboma, Cataract, Microphthalmia OMIM:120330
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Ocular albinism, Microphthalmia ORPHA:1352
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Corneal opacity, Buphthalmos, Optic nerve hypoplasia, Megalocornea, Coloboma, Peters anomaly, Cat... OMIM:236670
Marfan Syndrome
Microspherophakia, Increased axial length of the globe, Astigmatism, Hypoplasia of the iris, Cata... OMIM:154700
Trichothiodystrophy 1, Photosensitive
Keratoconjunctivitis sicca, Cataract, Microcornea, Microphthalmia OMIM:601675
Steinfeld Syndrome
Retinal coloboma, Iris coloboma, Microphthalmia OMIM:184705
Neuroocular Syndrome
Blue irides, Stellate iris, Microcornea, Hypoplasia of the fovea, Peters anomaly, Iris coloboma, ... OMIM:619539
Skin Creases, Congenital Symmetric Circumferential, 1
Microcornea, Microphthalmia OMIM:156610
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Microphthalmia OMIM:300863
Frontofacionasal Dysplasia
Iris coloboma, Cataract, Microcornea, Microphthalmia OMIM:229400
Ritscher-Schinzel Syndrome 3
Microphthalmia, Chorioretinal coloboma OMIM:619135
Joubert Syndrome 37
Microphthalmia OMIM:619185
Martsolf Syndrome 1
Cataract, Developmental cataract, Microphthalmia OMIM:212720
Fanconi Anemia, Complementation Group S
Microphthalmia OMIM:617883
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Microphthalmia OMIM:619053
Monosomy 18P
Microphthalmia ORPHA:1598
Adams-Oliver Syndrome
Cataract, Microphthalmia ORPHA:974
Subaortic Stenosis--Short Stature Syndrome
Opacification of the corneal stroma, Microcornea, Microphthalmia OMIM:271960
Microphthalmia-Brain Atrophy Syndrome
Bilateral microphthalmos ORPHA:77299
Blepharophimosis, Ptosis, And Epicanthus Inversus
Microcornea, Microphthalmia OMIM:110100
Microphthalmia With Limb Anomalies
Anophthalmia, Microphthalmia OMIM:206920
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Bilateral microphthalmos, Ocular anterior segment dysgenesis ORPHA:369891
Hydrolethalus
Anophthalmia, Microphthalmia ORPHA:2189
Myoclonic-Astatic Epilepsy
Microphthalmia ORPHA:1942
Kenny-Caffey Syndrome, Type 2
Developmental cataract, Microphthalmia OMIM:127000
3Q29 Microdeletion Syndrome
Cataract, Microphthalmia ORPHA:65286
Craniosynostosis With Ocular Abnormalities And Hallucal Defects
Cataract, Microcornea OMIM:608279
Sponastrime Dysplasia
Congenital aphakia, Microcoria, Cataract ORPHA:93357
Linear Skin Defects With Multiple Congenital Anomalies 1
Peters anomaly, Iris coloboma, Cataract, Microphthalmia, Sclerocornea OMIM:309801
Chondrodysplasia Punctata 2, X-Linked Dominant
Cataract, Microphthalmia OMIM:302960
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Optic nerve hypoplasia, Bilateral microphthalmos OMIM:607597
Leiomyomatosis, Diffuse, With Alport Syndrome
Lenticonus, Cataract, Anterior lenticonus OMIM:308940
Proboscis Lateralis
Corneal opacity, Optic nerve hypoplasia, Anophthalmia, Microcornea, Optic disc coloboma, Iris col... ORPHA:141099
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Microphthalmia ORPHA:228390
Moebius Syndrome
Microphthalmia OMIM:157900
Duane-Radial Ray Syndrome
Retinal coloboma, Iris coloboma, Cataract, Optic disc hypoplasia, Microphthalmia OMIM:607323
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Iris coloboma, Unilateral microphthalmos OMIM:618874
Matthew-Wood Syndrome
Anophthalmia, Microphthalmia ORPHA:2470
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Microphthalmia ORPHA:163966
Pelvis-Shoulder Dysplasia
Retinal coloboma, Bilateral microphthalmos, Iris coloboma, Microcornea ORPHA:2839
Meckel Syndrome, Type 2
Microphthalmia OMIM:603194
1Q21.1 Microdeletion Syndrome
Iris coloboma, Cataract, Microphthalmia ORPHA:250989
Galloway-Mowat Syndrome 1
Opacification of the corneal stroma, Hypoplasia of the iris, Cataract, Microphthalmia OMIM:251300
Linear Nevus Sebaceus Syndrome
Iris coloboma, Microphthalmia ORPHA:2612
Mycophenolate Mofetil Embryopathy
Iris coloboma, Microphthalmia, Chorioretinal coloboma ORPHA:268249
Monosomy 13Q14
Iris coloboma, Cataract, Microphthalmia ORPHA:1587
Focal Dermal Hypoplasia
Corneal opacity, Iris coloboma, Hypoplasia of the iris, Microphthalmia, Ectopia lentis, Chorioret... ORPHA:2092
Trisomy 18
Microcornea, Iris coloboma, Cyclopia, Cataract, Microphthalmia ORPHA:3380
Bosma Arhinia Microphthalmia Syndrome
Microphthalmia, Cataract, Coloboma OMIM:603457
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Cataract, Microphthalmia OMIM:253800
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Microphthalmia ORPHA:404440
Meckel Syndrome
Anophthalmia, Microcornea, Cataract, Microphthalmia, Aplasia/Hypoplasia of the iris, Sclerocornea ORPHA:564
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Iris coloboma, Microphthalmia ORPHA:1236
Atrioventricular Septal Defect With Blepharophimosis And Anal And Radial Defects
Microphthalmia OMIM:600123
Fetal Alcohol Syndrome
Microphthalmia ORPHA:1915
Heart And Brain Malformation Syndrome
Microphthalmia OMIM:616920
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Hypoplasia of the retina, Buphthalmos, Megalocornea, Opacification of the corneal stroma, Colobom... OMIM:253280
Meckel Syndrome, Type 4
Microphthalmia OMIM:611134
Jacobsen Syndrome
Macular hypoplasia, Microcornea, Iris coloboma, Microphthalmia, Chorioretinal coloboma OMIM:147791
Oculodentodigital Dysplasia
Cataract, Microcornea, Microphthalmia OMIM:164200
Basel-Vanagaite-Smirin-Yosef Syndrome
Developmental cataract, Microcornea, Microphthalmia ORPHA:464738
Cousin Syndrome
Microcornea, Microphthalmia OMIM:260660
Incontinentia Pigmenti
Keratitis, Cataract, Hypoplasia of the fovea, Microphthalmia OMIM:308300
Hallermann-Streiff Syndrome
Optic disc coloboma, Iris coloboma, Cataract, Microphthalmia, Chorioretinal coloboma OMIM:234100
Cat Eye Syndrome
Iris coloboma, Microphthalmia, Chorioretinal coloboma OMIM:115470
3P25.3 Microdeletion Syndrome
Microphthalmia ORPHA:435638
Marden-Walker Syndrome
Microphthalmia OMIM:248700
Vacterl With Hydrocephalus
Anophthalmia, Microcornea, Microphthalmia ORPHA:3412
Rothmund-Thomson Syndrome, Type 2
Cataract, Microcornea, Zonular cataract, Microphthalmia OMIM:268400
2Q31.1 Microdeletion Syndrome
Iris coloboma, Microphthalmia, Optic disc coloboma, Coloboma ORPHA:251014
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Polycoria, Corneal opacity, Corneal neovascularization, Ectopia pupillae, Microcornea, Astigmatis... OMIM:175780
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Microphthalmia ORPHA:2728
Acrofrontofacionasal Dysostosis 1
Iris atrophy, Microphthalmia OMIM:201180
Incontinentia Pigmenti
Keratitis, Corneal opacity, Cataract, Microphthalmia ORPHA:464
Pseudotrisomy 13 Syndrome
Cyclopia, Microphthalmia OMIM:264480
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Corneal opacity, Microphthalmia ORPHA:364577
Basal Cell Nevus Syndrome
Iris coloboma, Cataract, Microphthalmia OMIM:109400
Mosaic Trisomy 1
Opacification of the corneal stroma, Microphthalmia ORPHA:1692
Chromosome 1Q41-Q42 Deletion Syndrome
Microphthalmia OMIM:612530
Microcephaly-Micromelia Syndrome
Microphthalmia OMIM:251230
Joubert Syndrome 2
Microphthalmia, Optic disc coloboma, Chorioretinal coloboma OMIM:608091
Mosaic Trisomy 9
Corneal opacity, Microphthalmia ORPHA:99776
Monosomy 9Q22.3
Cataract, Microphthalmia ORPHA:77301
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Iris coloboma, Cyclopia, Microphthalmia ORPHA:3186
Fryns Syndrome
Corneal opacity, Microphthalmia ORPHA:2059
Cohen Syndrome
Iris coloboma, Microphthalmia ORPHA:193
Dubowitz Syndrome
Iris coloboma, Hypoplasia of the iris, Megalocornea, Microphthalmia OMIM:223370
Cerebrooculofacioskeletal Syndrome 4
Bilateral microphthalmos OMIM:610758
Tetraamelia Syndrome 1
Cataract, Microphthalmia OMIM:273395
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Cataract, Microphthalmia ORPHA:306542
Cockayne Syndrome Type 3
Corneal ulceration, Microcornea, Cataract, Lentiglobus, Microphthalmia, Keratoconjunctivitis sicca ORPHA:90324
Momo Syndrome
Bilateral microphthalmos, Chorioretinal coloboma ORPHA:2563
Mosaic Variegated Aneuploidy Syndrome
Corneal opacity, Cataract, Microphthalmia ORPHA:1052
Chromosome 13Q33-Q34 Deletion Syndrome
Microphthalmia OMIM:619148
Hallermann-Streiff Syndrome
Developmental cataract, Microphthalmia ORPHA:2108
Holoprosencephaly